#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
SAMD11	148398	broad.mit.edu	37	1	879424	879425	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:879424_879425CC>TT	ENST00000342066.3	+	14	2020_2021	c.1937_1938CC>TT	c.(1936-1938)tCC>tTT	p.S646F		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	646					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.S646F(2)|p.S646S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCCACGTCCCCCTATGGAG	0.678																																						uc001abw.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1936-1938)TCC>TTC|c.(1936-1938)TCC>TCT		sterile alpha motif domain containing 11																																				SO:0001583	missense	148398					nucleus		g.chr1:879424C>T|g.chr1:879425C>T	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	Exception_encountered	1.37:g.879424_879425delinsTT	ENSP00000342313:p.Ser646Phe					SAMD11_uc001abx.1_Missense_Mutation_p.S509F|SAMD11_uc001abx.1_Silent_p.S509S	p.S646F|p.S646S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	2017|2018	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	646					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation|Silent	SNP	ENST00000342066.3	37	c.1937C>T|c.1938C>T	CCDS2.2																																																																																				PASS	0.678	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		17	28	17	28	---	---	---	---
NOC2L	26155	broad.mit.edu	37	1	891504	891504	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:891504G>A	ENST00000327044.6	-	5	627	c.578C>T	c.(577-579)gCc>gTc	p.A193V	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	193					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A193V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAATTTGTTGGCCTCAGCACT	0.592																																						uc001abz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(577-579)GCC>GTC		nucleolar complex associated 2 homolog							131.0	119.0	123.0					1																	891504		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:891504G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.578C>T	1.37:g.891504G>A	ENSP00000317992:p.Ala193Val					NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.A193V	p.A193V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	5	637	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	193					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.578C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061987	0.36373	.	.	ENSG00000188976	ENST00000327044	T	0.65916	-0.18	5.15	-0.347	0.12617	.	0.655088	0.16210	N	0.224540	T	0.46600	0.1401	L	0.50333	1.59	0.22858	N	0.998647	B;B	0.28439	0.212;0.212	B;B	0.21546	0.035;0.035	T	0.31081	-0.9956	10	0.44086	T	0.13	-2.1629	3.483	0.07609	0.144:0.2657:0.4675:0.1227	.	193;193	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	V	193	ENSP00000317992:A193V	ENSP00000317992:A193V	A	-	2	0	NOC2L	881367	0.037000	0.19845	0.007000	0.13788	0.794000	0.44872	-0.109000	0.10840	-0.337000	0.08426	0.511000	0.50034	GCC		PASS	0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		20	30	20	30	---	---	---	---
PRKCZ	5590	broad.mit.edu	37	1	2105397	2105397	+	Silent	SNP	C	C	T	rs372528398		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:2105397C>T	ENST00000400921.2	+	11	1481	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.S266S	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.S449S(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)	CCGGGCGCTCCCCGTTCGACA	0.622											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aiq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|large_intestine(2)	6						c.(1345-1347)TCC>TCT		protein kinase C, zeta isoform 1		C	,,,	1,4405	2.1+/-5.4	0,1,2202	149.0	126.0	134.0		798,798,1035,1347	-1.8	0.8	1		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKCZ	NM_001033581.1,NM_001033582.1,NM_001242874.1,NM_002744.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	266/410,266/410,345/489,449/593	2105397	1,13005	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.chr1:2105397C>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.798C>T	1.37:g.2105397C>T			OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	601	PRKCZ_uc001air.2_Silent_p.S266S|PRKCZ_uc010nyw.1_Silent_p.S345S|PRKCZ_uc001ais.2_Silent_p.S266S|PRKCZ_uc009vla.2_Silent_p.S273S|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.S297S	p.S449S	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)	14	1508	+	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)	449			Protein kinase.		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.1347C>T	CCDS41229.1																																																																																				PASS	0.622	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		21	20	21	20	---	---	---	---
MMEL1	79258	broad.mit.edu	37	1	2527475	2527475	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:2527475C>T	ENST00000378412.3	-	15	1634	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	MMEL1_ENST00000502556.1_Silent_p.E334E|MMEL1_ENST00000288709.6_Silent_p.E482E			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	491						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E482E(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TCTTGGACTCCTCGTCCATCC	0.627																																						uc001ajy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1471-1473)GAG>GAA		membrane metallo-endopeptidase-like 1							234.0	192.0	206.0					1																	2527475		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2527475C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1473G>A	1.37:g.2527475C>T						MMEL1_uc009vlg.1_RNA	p.E491E	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	15	1687	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	491			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.1473G>A	CCDS30569.2																																																																																				PASS	0.627	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		37	53	37	53	---	---	---	---
ACTRT2	140625	broad.mit.edu	37	1	2938400	2938400	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:2938400G>A	ENST00000378404.2	+	1	355	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	50						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E50E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCTCAGCAGAGGCCAACCAGA	0.627																																						uc001ajz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)GAG>GAA		actin-related protein M2							42.0	42.0	42.0					1																	2938400		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938400G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.150G>A	1.37:g.2938400G>A							p.E50E	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	355	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	50					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.150G>A	CCDS45.1																																																																																				PASS	0.627	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		15	15	15	15	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3679830	3679830	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:3679830G>A	ENST00000294600.2	+	7	1197	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	371	Glu-rich.							p.E371E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		agggaagcgaggaggaggaag	0.657																																						uc001akv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1111-1113)GAG>GAA		coiled-coil domain containing 27							68.0	70.0	69.0					1																	3679830		2199	4299	6498	SO:0001819	synonymous_variant	148870							g.chr1:3679830G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1113G>A	1.37:g.3679830G>A							p.E371E	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1194	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	371			Glu-rich.		Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1113G>A	CCDS50.1																																																																																				PASS	0.657	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		4	12	4	12	---	---	---	---
CEP104	9731	broad.mit.edu	37	1	3753130	3753130	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:3753130C>T	ENST00000378230.3	-	10	1570	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	416						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.E416K(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGCTCTGGCTCCCCTAACATG	0.493																																						uc001aky.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)GAG>AAG		glycine-, glutamate-,							120.0	104.0	109.0					1																	3753130		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3753130C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1246G>A	1.37:g.3753130C>T	ENSP00000367476:p.Glu416Lys					KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.E416K	p.E416K	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	10	1605	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	416					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1246G>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755963	0.49362	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.21361	2.01;2.01	5.68	4.75	0.60458	.	0.255070	0.38381	N	0.001709	T	0.34948	0.0915	M	0.77616	2.38	0.80722	D	1	P;P	0.50369	0.934;0.649	P;B	0.49829	0.623;0.254	T	0.22138	-1.0225	10	0.18710	T	0.47	.	15.5744	0.76365	0.0:0.8617:0.1383:0.0	.	416;416	O60308-3;O60308	.;CE104_HUMAN	K	416;110	ENSP00000367476:E416K;ENSP00000411927:E110K	ENSP00000367476:E416K	E	-	1	0	CEP104	3742990	0.997000	0.39634	0.074000	0.20217	0.074000	0.17049	3.480000	0.53172	1.352000	0.45808	0.650000	0.86243	GAG		PASS	0.493	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		8	57	8	57	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6202664	6202664	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:6202664G>A	ENST00000262450.3	-	14	2144	c.2045C>T	c.(2044-2046)cCc>cTc	p.P682L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P682L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTGACCGTGGGCTGCAGGGG	0.607																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2044-2046)CCC>CTC		chromodomain helicase DNA binding protein 5							95.0	68.0	77.0					1																	6202664		2203	4300	6503	SO:0001630	splice_region_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202664G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2044-1C>T	1.37:g.6202664G>A						CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	p.P682L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2145	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	682					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2045C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000149	0.35320	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.92911	-3.13	3.3	3.3	0.37823	.	0.000000	0.64402	D	0.000001	D	0.91462	0.7305	N	0.21583	0.68	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.88548	0.3114	10	0.16896	T	0.51	-21.1036	15.1126	0.72372	0.0:0.0:1.0:0.0	.	682	Q8TDI0	CHD5_HUMAN	L	682;198;90;90	ENSP00000262450:P682L	ENSP00000262450:P682L	P	-	2	0	CHD5	6125251	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.528000	0.98046	1.824000	0.53156	0.462000	0.41574	CCC		PASS	0.607	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	Missense_Mutation	20	18	20	18	---	---	---	---
CHD5	26038	broad.mit.edu	37	1	6212538	6212538	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:6212538C>T	ENST00000262450.3	-	6	903	c.804G>A	c.(802-804)ggG>ggA	p.G268G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G268G(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGTCTTTTTCCCTTTGCCCT	0.542																																						uc001amb.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(802-804)GGG>GGA		chromodomain helicase DNA binding protein 5							155.0	133.0	141.0					1																	6212538		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6212538C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.804G>A	1.37:g.6212538C>T							p.G268G	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	6	904	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	268			Lys-rich.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.804G>A	CCDS57.1																																																																																				PASS	0.542	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		13	21	13	21	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7700505	7700505	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:7700505G>A	ENST00000303635.7	+	7	763	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGCCATCGAGGACTGCGG	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(556-558)GAG>AAG		calmodulin-binding transcription activator 1							139.0	113.0	121.0					1																	7700505		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700505G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.556G>A	1.37:g.7700505G>A	ENSP00000306522:p.Glu186Lys						p.E186K	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	763	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	186			CG-1.		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.556G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656932	0.88154	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25912	1.77;1.77	5.36	5.36	0.76844	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.06844	-1.0804	10	0.25751	T	0.34	-24.0721	19.0961	0.93251	0.0:0.0:1.0:0.0	.	186	Q9Y6Y1	CMTA1_HUMAN	K	186	ENSP00000306522:E186K;ENSP00000402561:E186K	ENSP00000306522:E186K	E	+	1	0	CAMTA1	7623092	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.764000	0.98949	2.506000	0.84524	0.462000	0.41574	GAG		PASS	0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		26	29	26	29	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7724082	7724082	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:7724082C>T	ENST00000303635.7	+	9	1682	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P492L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P492L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTAATAACCCAAAGCAGGGC	0.592			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1474-1476)CCA>CTA		calmodulin-binding transcription activator 1							71.0	82.0	78.0					1																	7724082		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724082C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1475C>T	1.37:g.7724082C>T	ENSP00000306522:p.Pro492Leu						p.P492L	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1682	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	492					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1475C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.937605	0.73557	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.54675	0.56;0.56	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74799	-0.3542	10	0.87932	D	0	-7.2541	18.3768	0.90438	0.0:1.0:0.0:0.0	.	492	Q9Y6Y1	CMTA1_HUMAN	L	492	ENSP00000306522:P492L;ENSP00000402561:P492L	ENSP00000306522:P492L	P	+	2	0	CAMTA1	7646669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.349000	0.79799	0.543000	0.68304	CCA		PASS	0.592	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		14	36	14	36	---	---	---	---
RERE	473	broad.mit.edu	37	1	8418356	8418356	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:8418356G>A	ENST00000337907.3	-	21	4873	c.4239C>T	c.(4237-4239)ccC>ccT	p.P1413P	RERE_ENST00000400908.2_Silent_p.P1413P|RERE_ENST00000377464.1_Silent_p.P1145P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P859P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1413					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1413P(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCGGGCCAGGGGATCGCTGG	0.652																																						uc001ape.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4237-4239)CCC>CCT		atrophin-1 like protein isoform a							114.0	91.0	99.0					1																	8418356		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418356G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4239C>T	1.37:g.8418356G>A						RERE_uc001apf.2_Silent_p.P1413P|RERE_uc001apd.2_Silent_p.P859P	p.P1413P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	5049	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1413					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.4239C>T	CCDS95.1																																																																																				PASS	0.652	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			6	7	6	7	---	---	---	---
SLC25A33	84275	broad.mit.edu	37	1	9642481	9642481	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:9642481C>T	ENST00000302692.6	+	7	1098	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	296					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.I296I(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGCTTATCCGGCAGATCC	0.478																																						uc001apw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(886-888)ATC>ATT		mitochondrial carrier protein MGC4399							75.0	69.0	71.0					1																	9642481		2203	4300	6503	SO:0001819	synonymous_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9642481C>T	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.888C>T	1.37:g.9642481C>T						SLC25A33_uc001apx.2_Silent_p.I229I	p.I296I	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	7	1111	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	296			Solcar 3.			Silent	SNP	ENST00000302692.6	37	c.888C>T	CCDS103.1																																																																																				PASS	0.478	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		11	17	11	17	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9804666	9804666	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:9804666G>A	ENST00000377298.4	-	8	1813	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	CLSTN1_ENST00000361311.4_Missense_Mutation_p.P331S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.P341S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	341					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.P341S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATCCACTCGGGGATGGCAGC	0.652																																						uc001aqh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1021-1023)CCG>TCG		calsyntenin 1 isoform 1							55.0	40.0	45.0					1																	9804666		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804666G>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1021C>T	1.37:g.9804666G>A	ENSP00000366513:p.Pro341Ser					CLSTN1_uc001aqi.2_Missense_Mutation_p.P331S|CLSTN1_uc010oag.1_Missense_Mutation_p.P341S	p.P341S	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	8	1780	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	341			Extracellular (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1021C>T	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694684	0.68386	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.8	5.8	0.92144	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	D	0.93523	0.7933	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.93404	0.6763	10	0.59425	D	0.04	-29.7811	20.0589	0.97667	0.0:0.0:1.0:0.0	.	341;331;341	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	S	341;331;161;341;341	ENSP00000366513:P341S;ENSP00000354997:P331S;ENSP00000401934:P161S;ENSP00000366502:P341S	ENSP00000354997:P331S	P	-	1	0	CLSTN1	9727253	1.000000	0.71417	0.162000	0.22713	0.005000	0.04900	9.790000	0.99075	2.732000	0.93576	0.650000	0.86243	CCG		PASS	0.652	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			6	6	6	6	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10384043	10384043	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:10384043C>T	ENST00000377086.1	+	25	2662	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	KIF1B_ENST00000377081.1_Silent_p.F820F|KIF1B_ENST00000263934.6_Silent_p.F774F			O60333	KIF1B_HUMAN	kinesin family member 1B	820					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.F774F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACAGGCCTTTCCCTCGCACAG	0.443																																						uc001aqx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2458-2460)TTC>TTT		kinesin family member 1B isoform b							139.0	140.0	140.0					1																	10384043		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10384043C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2460C>T	1.37:g.10384043C>T						KIF1B_uc001aqw.3_Silent_p.F774F|KIF1B_uc001aqy.2_Silent_p.F794F|KIF1B_uc001aqz.2_Silent_p.F820F|KIF1B_uc001ara.2_Silent_p.F780F|KIF1B_uc001arb.2_Silent_p.F806F	p.F820F	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	25	2662	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	820					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2460C>T																																																																																					PASS	0.443	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			33	41	33	41	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11561098	11561098	+	Missense_Mutation	SNP	G	G	A	rs559089505	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:11561098G>A	ENST00000294484.6	+	2	187	c.49G>A	c.(49-51)Gag>Aag	p.E17K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E17K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	17					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.E234K(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTAGAGGAGGAGCAGGAGGA	0.617																																						uc001ash.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(49-51)GAG>AAG		patched domain containing 2							51.0	57.0	55.0					1																	11561098		1996	4152	6148	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561098G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.49G>A	1.37:g.11561098G>A	ENSP00000294484:p.Glu17Lys					PTCHD2_uc001asi.1_Missense_Mutation_p.E17K	p.E17K	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	187	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	17			Cytoplasmic (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.49G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575447	0.45902	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25085	1.82;1.82	5.48	5.48	0.80851	.	0.695406	0.12936	U	0.427020	T	0.20780	0.0500	L	0.27053	0.805	0.39922	D	0.974179	B	0.34015	0.435	B	0.27262	0.078	T	0.09796	-1.0658	10	0.49607	T	0.09	-5.8515	16.872	0.86042	0.0:0.0:1.0:0.0	.	17	Q9P2K9	PTHD2_HUMAN	K	17	ENSP00000294484:E17K;ENSP00000374226:E17K	ENSP00000294484:E17K	E	+	1	0	PTCHD2	11483685	1.000000	0.71417	0.996000	0.52242	0.180000	0.23129	7.285000	0.78660	2.724000	0.93272	0.563000	0.77884	GAG		PASS	0.617	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	19	9	19	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11584057	11584057	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:11584057G>A	ENST00000294484.6	+	11	2559	c.2421G>A	c.(2419-2421)aaG>aaA	p.K807K	PTCHD2_ENST00000389575.3_Silent_p.K807K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	807					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.K1024K(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGGAGAAGAAGAGGCGAG	0.657																																						uc001ash.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2419-2421)AAG>AAA		patched domain containing 2							41.0	48.0	46.0					1																	11584057		1907	4118	6025	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11584057G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2421G>A	1.37:g.11584057G>A						PTCHD2_uc001asi.1_Silent_p.K807K	p.K807K	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	11	2559	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	807			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.2421G>A	CCDS41247.1																																																																																				PASS	0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		6	16	6	16	---	---	---	---
PTCHD2	57540	broad.mit.edu	37	1	11595632	11595632	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:11595632G>A	ENST00000294484.6	+	20	3885	c.3747G>A	c.(3745-3747)gtG>gtA	p.V1249V	PTCHD2_ENST00000304391.6_Missense_Mutation_p.G136R|PTCHD2_ENST00000389575.3_Silent_p.V1249V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1249					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.V1466V(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTCCTCCGTGGATTACTGCG	0.652																																						uc001ash.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3745-3747)GTG>GTA		patched domain containing 2							68.0	80.0	76.0					1																	11595632		2133	4232	6365	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11595632G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3747G>A	1.37:g.11595632G>A							p.V1249V	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	20	3885	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1249			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.3747G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385151	0.42308	.	.	ENSG00000204624	ENST00000304391	.	.	.	5.44	4.47	0.54385	.	.	.	.	.	T	0.59321	0.2185	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63959	-0.6519	5	0.87932	D	0	-24.6787	4.1192	0.10098	0.0837:0.2596:0.5079:0.1489	.	.	.	.	R	136	.	ENSP00000303400:G136R	G	+	1	0	PTCHD2	11518219	0.991000	0.36638	1.000000	0.80357	0.762000	0.43233	0.160000	0.16462	2.547000	0.85894	0.655000	0.94253	GGA		PASS	0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		4	36	4	36	---	---	---	---
CLCN6	1185	broad.mit.edu	37	1	11887200	11887200	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:11887200C>T	ENST00000346436.6	+	10	814	c.762C>T	c.(760-762)ttC>ttT	p.F254F	CLCN6_ENST00000376496.3_Silent_p.F254F|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Silent_p.F254F|CLCN6_ENST00000376487.3_Silent_p.F232F	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	254					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.F254F(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCTTTCGGGGCGCCAA	0.557																																						uc001ate.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)TTC>TTT		chloride channel 6 isoform ClC-6a							46.0	53.0	50.0					1																	11887200		2203	4300	6503	SO:0001819	synonymous_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11887200C>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.762C>T	1.37:g.11887200C>T						CLCN6_uc009vnf.1_Missense_Mutation_p.R258W|CLCN6_uc009vng.1_Missense_Mutation_p.R246W|CLCN6_uc009vnh.1_Silent_p.F254F|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.F232F	p.F254F	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	10	875	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	254					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.762C>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659398	0.29515	.	.	ENSG00000011021	ENST00000376490;ENST00000376491	.	.	.	5.19	-6.1	0.02138	.	.	.	.	.	T	0.53367	0.1792	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15954	-1.0419	7	0.62326	D	0.03	-23.5252	17.872	0.88813	0.0:0.1023:0.0:0.8977	.	246;258	P51797-4;P51797-2	.;.	W	258;246	.	ENSP00000365673:R258W	R	+	1	2	CLCN6	11809787	0.425000	0.25498	0.788000	0.31933	0.798000	0.45092	-0.379000	0.07437	-1.526000	0.01760	-1.075000	0.02238	CGG		PASS	0.557	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		5	12	5	12	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024743	12024743	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:12024743C>T	ENST00000196061.4	+	13	1398	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	PLOD1_ENST00000376369.3_Silent_p.I504I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	457					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.I457I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TCTACTTGATCAAGGGCAGTG	0.582																																						uc001atm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1369-1371)ATC>ATT		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						103.0	106.0	105.0					1																	12024743		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024743C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1371C>T	1.37:g.12024743C>T						PLOD1_uc010obb.1_Silent_p.I504I	p.I457I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	13	1462	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	457					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.1371C>T	CCDS142.1																																																																																				PASS	0.582	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		30	33	30	33	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12403072	12403072	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:12403072C>T	ENST00000358136.3	+	42	8979	c.8849C>T	c.(8848-8850)cCc>cTc	p.P2950L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P2925L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P2950L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGAGATTCCCTTTGAATTT	0.408																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(8848-8850)CCC>CTC		vacuolar protein sorting 13D isoform 1							100.0	92.0	94.0					1																	12403072		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12403072C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8849C>T	1.37:g.12403072C>T	ENSP00000350854:p.Pro2950Leu					VPS13D_uc001atw.2_Missense_Mutation_p.P2925L|VPS13D_uc001atx.2_Missense_Mutation_p.P2137L	p.P2950L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	42	8990	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2949						Missense_Mutation	SNP	ENST00000358136.3	37	c.8849C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998345|3.998345	0.74818|0.74818	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|T	0.50813|0.52057	0.73;0.73|0.68	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56934|0.56934	0.2019|0.2019	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	B;B|.	0.29835|.	0.246;0.258|.	B;B|.	0.32980|.	0.156;0.11|.	T|T	0.47249|0.47249	-0.9132|-0.9132	10|8	0.56958|0.30078	D|T	0.05|0.28	.|.	19.4553|19.4553	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2925;2949|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	L|S	2925;2950|1772	ENSP00000348666:P2925L;ENSP00000350854:P2950L|ENSP00000011700:P1772S	ENSP00000348666:P2925L|ENSP00000011700:P1772S	P|P	+|+	2|1	0|0	VPS13D|VPS13D	12325659|12325659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.816000|0.816000	0.46133|0.46133	7.417000|7.417000	0.80156|0.80156	2.619000|2.619000	0.88677|0.88677	0.650000|0.650000	0.86243|0.86243	CCC|CCT		PASS	0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		12	26	12	26	---	---	---	---
HNRNPCL1	343069	broad.mit.edu	37	1	12907391	12907391	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:12907391C>T	ENST00000317869.6	-	2	977	c.752G>A	c.(751-753)gGg>gAg	p.G251E		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	251						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G251E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGTGGGTCCCCCTCCTCAGC	0.502																																						uc009vno.2																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)GGG>GAG		heterogeneous nuclear ribonucleoprotein C-like							104.0	107.0	106.0					1																	12907391		2202	4297	6499	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12907391C>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.752G>A	1.37:g.12907391C>T	ENSP00000365370:p.Gly251Glu					HNRNPCL1_uc010obf.1_Missense_Mutation_p.G251E	p.G251E	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	847	-			251					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.752G>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	10.47	1.358069	0.24598	.	.	ENSG00000179172	ENST00000317869	T	0.10477	2.87	0.55	0.55	0.17219	.	0.143968	0.44688	U	0.000438	T	0.14270	0.0345	L	0.47190	1.495	0.39377	D	0.966187	D	0.65815	0.995	P	0.54140	0.743	T	0.05402	-1.0887	10	0.46703	T	0.11	.	6.9469	0.24524	0.0:0.9999:0.0:1.0E-4	.	251	O60812	HNRCL_HUMAN	E	251	ENSP00000365370:G251E	ENSP00000365370:G251E	G	-	2	0	HNRNPCL1	12829978	0.999000	0.42202	0.124000	0.21820	0.006000	0.05464	0.776000	0.26704	0.572000	0.29383	0.416000	0.27883	GGG		PASS	0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		26	33	26	33	---	---	---	---
KAZN	23254	broad.mit.edu	37	1	15428226	15428226	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:15428226C>T	ENST00000376030.2	+	11	2029	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	579	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.L26L(1)|p.L579L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GGTCAGCATCCTGCTGGGGAT	0.592																																						uc001avm.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1735-1737)CTG>TTG		kazrin isoform E							75.0	48.0	57.0					1																	15428226		2203	4299	6502	SO:0001819	synonymous_variant	23254				keratinization	cornified envelope|cytoplasm|desmosome|nucleus		g.chr1:15428226C>T	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1735C>T	1.37:g.15428226C>T						KAZ_uc001avs.3_Silent_p.L26L	p.L579L	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN			11	2016	+			579			SAM 2.		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	c.1735C>T	CCDS152.2																																																																																				PASS	0.592	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999		6	4	6	4	---	---	---	---
TMEM51	55092	broad.mit.edu	37	1	15546138	15546138	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:15546138C>T	ENST00000428417.1	+	3	1107	c.661C>T	c.(661-663)Cca>Tca	p.P221S	TMEM51_ENST00000376008.2_Missense_Mutation_p.P221S|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Missense_Mutation_p.P221S|TMEM51_ENST00000400796.3_Missense_Mutation_p.P221S	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	221						integral component of membrane (GO:0016021)		p.P221S(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GATCAACCTCCCAGACAAAAA	0.522																																						uc001avw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)CCA>TCA		transmembrane protein 51							71.0	85.0	80.0					1																	15546138		2203	4300	6503	SO:0001583	missense	55092					integral to membrane		g.chr1:15546138C>T	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.661C>T	1.37:g.15546138C>T	ENSP00000394899:p.Pro221Ser					TMEM51_uc010obk.1_Missense_Mutation_p.P221S|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Missense_Mutation_p.P221S|TMEM51_uc001avx.2_Missense_Mutation_p.P221S	p.P221S	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	4	1180	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	221					A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	c.661C>T	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594214	0.46214	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.53	4.62	0.57501	.	0.282188	0.39834	N	0.001249	T	0.19604	0.0471	L	0.35414	1.06	0.27675	N	0.946639	B	0.15473	0.013	B	0.14578	0.011	T	0.17531	-1.0366	10	0.18276	T	0.48	-7.4067	6.4255	0.21768	0.0:0.6744:0.1624:0.1632	.	221	Q9NW97	TMM51_HUMAN	S	221	ENSP00000394899:P221S;ENSP00000365182:P221S;ENSP00000383600:P221S;ENSP00000365176:P221S	ENSP00000303666:P221S	P	+	1	0	TMEM51	15418725	0.060000	0.20803	0.989000	0.46669	0.923000	0.55619	0.917000	0.28665	1.340000	0.45581	0.555000	0.69702	CCA		PASS	0.522	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		30	39	30	39	---	---	---	---
RSC1A1	6248	broad.mit.edu	37	1	15987280	15987280	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:15987280C>T	ENST00000345034.1	+	1	917	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	306					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.S306F(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATTCCATTTCCACTCAGGAT	0.383																																						uc010obn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(916-918)TCC>TTC		regulatory solute carrier protein, family 1,							71.0	70.0	71.0					1																	15987280		2203	4300	6503	SO:0001583	missense	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987280C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.917C>T	1.37:g.15987280C>T	ENSP00000341963:p.Ser306Phe						p.S306F	NM_006511	NP_006502	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	917	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	306					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.917C>T	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601077	0.46423	.	.	ENSG00000215695	ENST00000345034	T	0.28255	1.62	5.61	1.63	0.23807	.	0.960161	0.08584	N	0.924134	T	0.19366	0.0465	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.18871	0.023	T	0.29027	-1.0025	10	0.52906	T	0.07	-6.8989	5.2836	0.15688	0.0:0.5917:0.1572:0.2512	.	306	Q92681	RSCA1_HUMAN	F	306	ENSP00000341963:S306F	ENSP00000341963:S306F	S	+	2	0	RSC1A1	15859867	0.002000	0.14202	0.936000	0.37596	0.836000	0.47400	1.539000	0.36104	0.045000	0.15804	0.561000	0.74099	TCC		PASS	0.383	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		17	23	17	23	---	---	---	---
TMEM82	388595	broad.mit.edu	37	1	16074105	16074105	+	Missense_Mutation	SNP	C	C	T	rs371025105		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16074105C>T	ENST00000375782.1	+	6	1148	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	337						integral component of membrane (GO:0016021)		p.S337F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCCAGTCCCAGAGTTCG	0.602																																						uc001axc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1009-1011)TCC>TTC		transmembrane protein 82		C	PHE/SER	0,4406		0,0,2203	82.0	83.0	83.0		1010	2.9	0.2	1		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM82	NM_001013641.1	155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	337/344	16074105	1,13005	2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16074105C>T		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.1010C>T	1.37:g.16074105C>T	ENSP00000364938:p.Ser337Phe						p.S337F	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	6	1148	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	337					B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.1010C>T	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745032	0.30865	0.0	1.16E-4	ENSG00000162460	ENST00000375782	T	0.50548	0.74	3.91	2.94	0.34122	.	1.265900	0.05972	N	0.642553	T	0.28863	0.0716	N	0.08118	0	0.09310	N	1	B	0.33448	0.412	B	0.28385	0.089	T	0.19063	-1.0317	10	0.72032	D	0.01	-15.606	9.4049	0.38455	0.0:0.7832:0.2168:0.0	.	337	A0PJX8	TMM82_HUMAN	F	337	ENSP00000364938:S337F	ENSP00000364938:S337F	S	+	2	0	TMEM82	15946692	0.007000	0.16637	0.190000	0.23270	0.036000	0.12997	1.944000	0.40263	2.020000	0.59435	0.563000	0.77884	TCC		PASS	0.602	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		9	31	9	31	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16261660	16261661	+	Missense_Mutation	DNP	GG	GG	AA	rs150393064		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16261660_16261661GG>AA	ENST00000375759.3	+	11	9129_9130	c.8925_8926GG>AA	c.(8923-8928)ccGGcc>ccAAcc	p.A2976T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2976					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2976T(2)|p.P2975P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCTTCAGCCGGCCAACCTGGG	0.599																																						uc001axk.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8923-8925)CCG>CCA|c.(8926-8928)GCC>ACC		spen homolog, transcriptional regulator																																				SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261660G>A|g.chr1:16261661G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	Exception_encountered	1.37:g.16261660_16261661delinsAA	ENSP00000364912:p.Ala2976Thr					SPEN_uc010obp.1_Silent_p.P2934P|SPEN_uc010obp.1_Missense_Mutation_p.A2935T	p.P2975P|p.A2976T	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9129|9130	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2975|2976					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent|Missense_Mutation	SNP	ENST00000375759.3	37	c.8925G>A|c.8926G>A	CCDS164.1																																																																																				PASS	0.599	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		6	25|23	6	23	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16261936	16261936	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16261936C>T	ENST00000375759.3	+	11	9405	c.9201C>T	c.(9199-9201)ttC>ttT	p.F3067F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3067					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.F3067F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCCCCAGTTCATCTCCAGCA	0.607																																						uc001axk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(9199-9201)TTC>TTT		spen homolog, transcriptional regulator							107.0	88.0	94.0					1																	16261936		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261936C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9201C>T	1.37:g.16261936C>T						SPEN_uc010obp.1_Silent_p.F3026F	p.F3067F	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9405	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3067					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.9201C>T	CCDS164.1																																																																																				PASS	0.607	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	32	8	32	---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16456870	16456870	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16456870C>T	ENST00000358432.5	-	15	2674	c.2520G>A	c.(2518-2520)atG>atA	p.M840I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	840	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M840I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGGGGCAGTCCATGGGTGTGG	0.622																																						uc001aya.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2518-2520)ATG>ATA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						48.0	51.0	50.0					1																	16456870		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456870C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2520G>A	1.37:g.16456870C>T	ENSP00000351209:p.Met840Ile						p.M840I	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2657	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	840			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2520G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347418	0.95807	.	.	ENSG00000142627	ENST00000358432	D	0.82433	-1.61	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.72985	0.3529	N	0.02539	-0.55	0.80722	D	1	P	0.34892	0.474	B	0.42495	0.389	T	0.78314	-0.2252	10	0.87932	D	0	.	18.8981	0.92432	0.0:1.0:0.0:0.0	.	840	P29317	EPHA2_HUMAN	I	840	ENSP00000351209:M840I	ENSP00000351209:M840I	M	-	3	0	EPHA2	16329457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	2.822000	0.97130	0.650000	0.86243	ATG		PASS	0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		7	7	7	7	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577480	16577480	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16577480G>A	ENST00000375592.3	-	10	2055	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	613								p.S613S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGGGAGGTAAGGAATGTCCAT	0.577																																						uc001ayg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1837-1839)TCC>TCT		F-box protein 42							98.0	99.0	98.0					1																	16577480		2203	4300	6503	SO:0001819	synonymous_variant	54455							g.chr1:16577480G>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1839C>T	1.37:g.16577480G>A						FBXO42_uc001aye.3_Silent_p.S331S|FBXO42_uc001ayf.2_Silent_p.S520S	p.S613S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	2055	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	613					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	c.1839C>T	CCDS30613.1																																																																																				PASS	0.577	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			8	55	8	55	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16895700	16895700	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16895700G>A	ENST00000430580.2	-	23	3369	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	828	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTCCTGGGGGACTTCCTCC	0.478																																						uc009vos.1																			0					0						c.(2482-2484)CCC>TCC		hypothetical protein LOC55672							41.0	39.0	40.0					1																	16895700		1508	3219	4727	SO:0001583	missense	55672					cytoplasm		g.chr1:16895700G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2482C>T	1.37:g.16895700G>A	ENSP00000474456:p.Pro828Ser					NBPF1_uc009vot.1_Missense_Mutation_p.P286S|NBPF1_uc001ayz.1_Missense_Mutation_p.P286S|NBPF1_uc010oce.1_Missense_Mutation_p.P557S	p.P828S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3370	-			828			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2482C>T																																																																																					PASS	0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		14	148	14	148	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17257888	17257888	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:17257888G>A	ENST00000375541.5	+	8	1021	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.E318K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GATGTTCACTGAGAGGTGAGG	0.587																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(952-954)GAG>AAG		ciliary rootlet coiled-coil							73.0	63.0	67.0					1																	17257888		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257888G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.952G>A	1.37:g.17257888G>A	ENSP00000364691:p.Glu318Lys					CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.E81K	p.E318K	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	8	1021	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	318			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.952G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114852	0.56505	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14766	2.48	4.6	4.6	0.57074	.	.	.	.	.	T	0.28896	0.0717	L	0.45352	1.415	0.44660	D	0.99764	D;D	0.89917	0.996;1.0	P;D	0.85130	0.894;0.997	T	0.00948	-1.1504	9	0.27082	T	0.32	.	16.5069	0.84274	0.0:0.0:1.0:0.0	.	181;318	A1L0S8;Q5TZA2	.;CROCC_HUMAN	K	318;199	ENSP00000364691:E318K	ENSP00000364691:E318K	E	+	1	0	CROCC	17130475	1.000000	0.71417	0.540000	0.28089	0.192000	0.23643	6.920000	0.75799	2.532000	0.85374	0.561000	0.74099	GAG		PASS	0.587	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	16	7	16	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18661419	18661419	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:18661419C>T	ENST00000251296.1	+	4	722	c.339C>T	c.(337-339)ccC>ccT	p.P113P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	113	Ig-like 1.					extracellular region (GO:0005576)		p.P113P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACAATGGTCCCTATGAGTGCC	0.617																																						uc001bau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(337-339)CCC>CCT		immunoglobin superfamily, member 21 precursor							93.0	73.0	80.0					1																	18661419		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18661419C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.339C>T	1.37:g.18661419C>T							p.P113P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	4	722	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	113			Ig-like 1.		Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.339C>T	CCDS184.1																																																																																				PASS	0.617	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		7	24	7	24	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18691905	18691905	+	Silent	SNP	G	G	T	rs371864848		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:18691905G>T	ENST00000251296.1	+	6	1112	c.729G>T	c.(727-729)acG>acT	p.T243T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	243						extracellular region (GO:0005576)		p.T243T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GACCCTACACGGAGCGCCCCT	0.637																																						uc001bau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(727-729)ACG>ACT		immunoglobin superfamily, member 21 precursor							83.0	90.0	88.0					1																	18691905		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18691905G>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.729G>T	1.37:g.18691905G>T						IGSF21_uc001bav.1_Silent_p.T64T	p.T243T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1112	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	243					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.729G>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262170	0.23051	.	.	ENSG00000117154	ENST00000412684	.	.	.	4.81	-7.52	0.01341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.423	8.024	0.30425	0.1058:0.0856:0.7236:0.085	.	.	.	.	X	196	.	.	G	+	1	0	IGSF21	18564492	0.002000	0.14202	0.888000	0.34837	0.988000	0.76386	-1.666000	0.01963	-1.269000	0.02436	0.561000	0.74099	GGA		PASS	0.637	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		18	43	18	43	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18692001	18692001	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:18692001C>T	ENST00000251296.1	+	6	1208	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	275						extracellular region (GO:0005576)		p.P275P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GTGAGTTTCCCCGCTGGGTCC	0.657																																						uc001bau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(823-825)CCC>CCT		immunoglobin superfamily, member 21 precursor							114.0	115.0	115.0					1																	18692001		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18692001C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.825C>T	1.37:g.18692001C>T						IGSF21_uc001bav.1_Silent_p.P96P	p.P275P	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1208	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	275					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.825C>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085300	0.20390	.	.	ENSG00000117154	ENST00000412684	D	0.89681	-2.55	4.28	2.38	0.29361	.	0.050428	0.85682	D	0.000000	D	0.86590	0.5969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81508	-0.0901	7	0.48119	T	0.1	-16.7154	1.6256	0.02722	0.1639:0.4715:0.1771:0.1875	.	.	.	.	S	228	ENSP00000388681:P228S	ENSP00000388681:P228S	P	+	1	0	IGSF21	18564588	0.676000	0.27567	1.000000	0.80357	0.989000	0.77384	-0.252000	0.08806	0.552000	0.29026	-0.224000	0.12420	CCG		PASS	0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		16	54	16	54	---	---	---	---
TMCO4	255104	broad.mit.edu	37	1	20009544	20009544	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:20009544C>T	ENST00000294543.6	-	16	2135	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R	TMCO4_ENST00000375122.2_Missense_Mutation_p.G592R|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	632						integral component of membrane (GO:0016021)		p.G632R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTCCAGCCCCGTGCTGGGG	0.642																																						uc001bcn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1894-1896)GGG>AGG		transmembrane and coiled-coil domains 4							52.0	64.0	60.0					1																	20009544		2201	4297	6498	SO:0001583	missense	255104					integral to membrane		g.chr1:20009544C>T		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1894G>A	1.37:g.20009544C>T	ENSP00000294543:p.Gly632Arg					TMCO4_uc001bcm.2_Missense_Mutation_p.G463R|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	p.G632R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	2136	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	632					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.1894G>A	CCDS198.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737124	0.49045	.	.	ENSG00000162542	ENST00000294543;ENST00000375122	T;T	0.36340	1.33;1.26	5.26	4.35	0.52113	.	0.379051	0.22233	N	0.062795	T	0.25382	0.0617	L	0.27053	0.805	0.22903	N	0.99859	B;B	0.27498	0.011;0.18	B;B	0.23150	0.012;0.044	T	0.17992	-1.0351	10	0.52906	T	0.07	-13.5244	11.09	0.48110	0.0:0.9131:0.0:0.0869	.	632;592	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	R	632;592	ENSP00000294543:G632R;ENSP00000364264:G592R	ENSP00000294543:G632R	G	-	1	0	TMCO4	19882131	0.020000	0.18652	0.772000	0.31596	0.255000	0.26057	1.272000	0.33109	1.373000	0.46208	0.655000	0.94253	GGG		PASS	0.642	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		20	26	20	26	---	---	---	---
PINK1	65018	broad.mit.edu	37	1	20970992	20970992	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:20970992G>A	ENST00000321556.4	+	4	880	c.786G>A	c.(784-786)aaG>aaA	p.K262K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K262K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAAATCCAAGAGAGGTCCCA	0.552																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(784-786)AAG>AAA		PTEN induced putative kinase 1 precursor							119.0	114.0	116.0					1																	20970992		2203	4300	6503	SO:0001819	synonymous_variant	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20970992G>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.786G>A	1.37:g.20970992G>A							p.K262K	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	880	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	262			Protein kinase.|Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	c.786G>A	CCDS211.1																																																																																				PASS	0.552	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		22	69	22	69	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21014322	21014322	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:21014322C>T	ENST00000247986.2	-	8	1807	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.K499K|KIF17_ENST00000375044.1_Silent_p.K399K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	499					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.K499K(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGAGAAGACCTTGGGTTTCA	0.557																																						uc001bdr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1495-1497)AAG>AAA		kinesin family member 17 isoform a							89.0	81.0	84.0					1																	21014322		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014322C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1497G>A	1.37:g.21014322C>T						KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Silent_p.K499K	p.K499K	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1615	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	499					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1497G>A	CCDS213.1																																																																																				PASS	0.557	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		30	47	30	47	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21889736	21889737	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:21889736_21889737GG>AA	ENST00000374840.3	+	5	681_682	c.431_432GG>AA	c.(430-432)gGG>gAA	p.G144E	ALPL_ENST00000540617.1_Missense_Mutation_p.G89E|ALPL_ENST00000539907.1_Missense_Mutation_p.G67E|ALPL_ENST00000425315.2_Missense_Mutation_p.G144E|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Missense_Mutation_p.G144E	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	144					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G144E(2)|p.G144G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	ACCACCCAGGGGAACGAGGTCA	0.683																																						uc001bet.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(430-432)GGG>GAG|c.(430-432)GGG>GGA		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)																																			SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889736G>A|g.chr1:21889737G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	Exception_encountered	1.37:g.21889736_21889737delinsAA	ENSP00000363973:p.Gly144Glu					ALPL_uc010odn.1_Missense_Mutation_p.G92E|ALPL_uc010odo.1_Missense_Mutation_p.G89E|ALPL_uc010odp.1_Missense_Mutation_p.G67E|ALPL_uc001beu.3_Missense_Mutation_p.G144E|ALPL_uc010odn.1_Silent_p.G92G|ALPL_uc010odo.1_Silent_p.G89G|ALPL_uc010odp.1_Silent_p.G67G|ALPL_uc001beu.3_Silent_p.G144G	p.G144E|p.G144G	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	688|689	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	144					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation|Silent	SNP	ENST00000374840.3	37	c.431G>A|c.432G>A	CCDS217.1																																																																																				PASS	0.683	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		9|10	34	9	34	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22179315	22179315	+	Missense_Mutation	SNP	G	G	A	rs201562074		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:22179315G>A	ENST00000374695.3	-	52	6681	c.6602C>T	c.(6601-6603)tCg>tTg	p.S2201L	HSPG2_ENST00000430507.1_Missense_Mutation_p.S147L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2201	Ig-like C2-type 7.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S2201L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCGCAGCAGCGAGCCGTGGGT	0.682																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6601-6603)TCG>TTG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	G	LEU/SER	0,4250		0,0,2125	20.0	23.0	22.0		6602	5.8	1.0	1		22	1,8325		0,1,4162	no	missense	HSPG2	NM_005529.5	145	0,1,6287	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	2201/4392	22179315	1,12575	2125	4163	6288	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22179315G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6602C>T	1.37:g.22179315G>A	ENSP00000363827:p.Ser2201Leu					HSPG2_uc009vqd.2_Missense_Mutation_p.S2202L	p.S2201L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	52	6642	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2201			Ig-like C2-type 7.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.6602C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246891	0.80024	0.0	1.2E-4	ENSG00000142798	ENST00000374695;ENST00000430507	T;T	0.21932	2.24;1.98	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.252775	0.20824	N	0.085014	T	0.36220	0.0959	M	0.84433	2.695	0.38872	D	0.956727	P;P	0.49090	0.724;0.919	B;P	0.44394	0.311;0.448	T	0.36335	-0.9752	10	0.33141	T	0.24	.	17.6216	0.88083	0.0:0.0:1.0:0.0	.	141;2201	Q59EG0;P98160	.;PGBM_HUMAN	L	2201;147	ENSP00000363827:S2201L;ENSP00000416385:S147L	ENSP00000363827:S2201L	S	-	2	0	HSPG2	22051902	0.708000	0.27876	0.976000	0.42696	0.894000	0.52154	4.972000	0.63756	2.768000	0.95171	0.561000	0.74099	TCG		PASS	0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	14	4	14	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22924242	22924242	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:22924242C>T	ENST00000166244.3	+	11	2076	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A668A(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCAAGGCCCTCAAAGCCG	0.662																																						uc001bfx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2002-2004)GCC>GCT		ephrin receptor EphA8 isoform 1 precursor							66.0	71.0	69.0					1																	22924242		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924242C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2004C>T	1.37:g.22924242C>T							p.A668A	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	2129	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	668			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2004C>T	CCDS225.1																																																																																				PASS	0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		17	23	17	23	---	---	---	---
C1QA	712	broad.mit.edu	37	1	22965797	22965797	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:22965797G>A	ENST00000374642.3	+	3	839	c.635G>A	c.(634-636)gGt>gAt	p.G212D	C1QA_ENST00000402322.1_Missense_Mutation_p.G212D	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	212	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.G212D(1)		autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGCAGCAGGGTGACCAGGTC	0.597																																						uc001bfy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GGT>GAT		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						59.0	65.0	63.0					1																	22965797		2203	4300	6503	SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965797G>A	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.635G>A	1.37:g.22965797G>A	ENSP00000363773:p.Gly212Asp					C1QA_uc001bfz.2_Missense_Mutation_p.G212D	p.G212D	NM_015991	NP_057075	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	720	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	212			C1q.		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	c.635G>A	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.520|8.520	0.868555|0.868555	0.17322|0.17322	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000374642;ENST00000438241;ENST00000402322|ENST00000339353	D;D;D|.	0.82167|.	-1.58;-1.58;-1.58|.	5.82|5.82	2.95|2.95	0.34219|0.34219	Tumour necrosis factor-like (2);Complement C1q protein (4);|.	.|2.035180	.|0.02819	.|N	.|0.125285	T|T	0.60637|0.60637	0.2284|0.2284	M|M	0.80616|0.80616	2.505|2.505	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.64237|.	0.923|.	T|T	0.41805|0.41805	-0.9488|-0.9488	9|7	0.25751|0.87932	T|D	0.34|0	4.1866|4.1866	5.612|5.612	0.17410|0.17410	0.2332:0.1442:0.6225:0.0|0.2332:0.1442:0.6225:0.0	.|.	212|.	P02745|.	C1QA_HUMAN|.	D|M	212|207	ENSP00000363773:G212D;ENSP00000416841:G212D;ENSP00000385564:G212D|.	ENSP00000363773:G212D|ENSP00000341271:V207M	G|V	+|+	2|1	0|0	C1QA|C1QA	22838384|22838384	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.022000|0.022000	0.10575|0.10575	1.127000|1.127000	0.31357|0.31357	0.810000|0.810000	0.34279|0.34279	-0.258000|-0.258000	0.10820|0.10820	GGT|GTG		PASS	0.597	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		8	37	8	37	---	---	---	---
C1QB	713	broad.mit.edu	37	1	22987772	22987772	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:22987772G>A	ENST00000314933.6	+	3	787	c.655G>A	c.(655-657)Ggg>Agg	p.G219R	C1QB_ENST00000509305.1_Missense_Mutation_p.G217R	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	219	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.G219R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTGGAGCAGGGGGAGAACGT	0.582																																						uc001bgd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(655-657)GGG>AGG		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						67.0	63.0	64.0					1																	22987772		2203	4300	6503	SO:0001583	missense	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987772G>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.655G>A	1.37:g.22987772G>A	ENSP00000313967:p.Gly219Arg						p.G219R	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	787	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	219			C1q.		Q5T959|Q96H17	Missense_Mutation	SNP	ENST00000314933.6	37	c.655G>A	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403644	0.42613	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	D;D;D	0.83591	-1.74;-1.74;-1.74	4.67	4.67	0.58626	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.611839	0.16406	N	0.215830	D	0.89608	0.6764	M	0.84773	2.715	0.09310	N	1	D	0.60160	0.987	P	0.59221	0.854	T	0.82627	-0.0364	9	.	.	.	.	11.1203	0.48287	0.0899:0.0:0.9101:0.0	.	219	P02746	C1QB_HUMAN	R	217;217;219	ENSP00000423689:G217R;ENSP00000404606:G217R;ENSP00000313967:G219R	.	G	+	1	0	C1QB	22860359	0.120000	0.22244	0.014000	0.15608	0.183000	0.23260	2.772000	0.47678	2.596000	0.87737	0.561000	0.74099	GGG		PASS	0.582	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		21	27	21	27	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23107970	23107970	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:23107970C>T	ENST00000400191.3	+	2	136	c.118C>T	c.(118-120)Cca>Tca	p.P40S	EPHB2_ENST00000374630.3_Missense_Mutation_p.P40S|EPHB2_ENST00000374632.3_Missense_Mutation_p.P40S|EPHB2_ENST00000544305.1_Missense_Mutation_p.P40S|EPHB2_ENST00000374627.1_Missense_Mutation_p.P34S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	40	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.P40S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGTGCATCCTCCATCAGGGGT	0.597																																						uc009vqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(118-120)CCA>TCA		ephrin receptor EphB2 isoform 1 precursor							110.0	92.0	98.0					1																	23107970		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23107970C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.118C>T	1.37:g.23107970C>T	ENSP00000383053:p.Pro40Ser					EPHB2_uc001bge.2_Missense_Mutation_p.P40S|EPHB2_uc001bgf.2_Missense_Mutation_p.P40S|EPHB2_uc010odu.1_Missense_Mutation_p.P40S	p.P40S	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	2	263	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	40			Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.118C>T		.	.	.	.	.	.	.	.	.	.	C	7.253	0.603661	0.14002	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0	4.83	0.775	0.18527	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.382289	0.27270	N	0.020134	T	0.04227	0.0117	N	0.12182	0.205	0.21290	N	0.999733	B;B;B;B	0.15930	0.015;0.001;0.001;0.0	B;B;B;B	0.12837	0.008;0.006;0.004;0.002	T	0.44174	-0.9345	10	0.10111	T	0.7	.	5.3353	0.15955	0.0:0.5365:0.1373:0.3262	.	40;40;58;40	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	S	40;40;40;40;40;34	ENSP00000444174:P40S;ENSP00000363761:P40S;ENSP00000383053:P40S;ENSP00000363763:P40S;ENSP00000363758:P34S	ENSP00000363755:P40S	P	+	1	0	EPHB2	22980557	0.001000	0.12720	0.998000	0.56505	0.997000	0.91878	0.514000	0.22786	0.259000	0.21709	0.491000	0.48974	CCA		PASS	0.597	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		16	15	16	15	---	---	---	---
CNR2	1269	broad.mit.edu	37	1	24201817	24201817	+	Silent	SNP	G	G	A	rs144279977	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24201817G>A	ENST00000374472.4	-	2	452	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CNR2_ENST00000536471.1_Silent_p.F97F	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	97					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.F97F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CCACACCATGGAAAACATGGA	0.547																																						uc001bif.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(289-291)TTC>TTT		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)	G		5,4401	9.9+/-24.2	0,5,2198	90.0	91.0	90.0		291	1.8	0.5	1	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	CNR2	NM_001841.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		97/361	24201817	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201817G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.291C>T	1.37:g.24201817G>A							p.F97F	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	418	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	97			Extracellular (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	c.291C>T	CCDS245.1																																																																																				PASS	0.547	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		24	39	24	39	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24401903	24401903	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24401903G>A	ENST00000374434.3	-	22	2926	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	MYOM3_ENST00000329601.7_Missense_Mutation_p.P922S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.P923S|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	922						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.P922S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGGGCTTCAGGGGCTTCAAAA	0.517																																						uc001bin.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2764-2766)CCT>TCT		myomesin family, member 3							74.0	71.0	72.0					1																	24401903		1867	4100	5967	SO:0001583	missense	127294							g.chr1:24401903G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2764C>T	1.37:g.24401903G>A	ENSP00000363557:p.Pro922Ser					MYOM3_uc001bim.3_Missense_Mutation_p.P579S|MYOM3_uc001bio.2_Missense_Mutation_p.P922S	p.P922S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	22	2927	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	922					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2764C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779227	0.16120	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.51325	0.71;0.71;0.71	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.184033	0.47852	D	0.000212	T	0.59542	0.2201	L	0.42245	1.32	0.38872	D	0.956719	B;D	0.67145	0.198;0.996	B;P	0.62740	0.171;0.906	T	0.46693	-0.9173	10	0.13853	T	0.58	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	922;922	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	S	922;923;922	ENSP00000363557:P922S;ENSP00000332670:P923S;ENSP00000328415:P922S	ENSP00000328415:P922S	P	-	1	0	MYOM3	24274490	1.000000	0.71417	0.997000	0.53966	0.632000	0.37999	4.292000	0.59031	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		9	36	9	36	---	---	---	---
IL22RA1	58985	broad.mit.edu	37	1	24448054	24448054	+	Silent	SNP	G	G	A	rs151086369		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24448054G>A	ENST00000270800.1	-	7	1004	c.966C>T	c.(964-966)tcC>tcT	p.S322S		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	322					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.S322S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGATCTCGGACAGGCTAT	0.637																																						uc001biq.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(964-966)TCC>TCT		interleukin 22 receptor, alpha 1 precursor		G		0,4406		0,0,2203	94.0	90.0	91.0		966	0.4	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL22RA1	NM_021258.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		322/575	24448054	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24448054G>A	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.966C>T	1.37:g.24448054G>A						IL22RA1_uc010oeg.1_Silent_p.S254S|IL22RA1_uc009vrb.1_Silent_p.S186S|IL22RA1_uc010oeh.1_Silent_p.S322S	p.S322S	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1005	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	322			Cytoplasmic (Potential).		A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	c.966C>T	CCDS247.1																																																																																				PASS	0.637	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			8	21	8	21	---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24663599	24663599	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24663599C>T	ENST00000350501.5	+	5	771	c.644C>T	c.(643-645)tCc>tTc	p.S215F	GRHL3_ENST00000361548.4_Missense_Mutation_p.S215F|GRHL3_ENST00000236255.4_Missense_Mutation_p.S220F|GRHL3_ENST00000342072.4_Missense_Mutation_p.S122F|GRHL3_ENST00000356046.2_Missense_Mutation_p.S169F	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	215					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S220F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTGAAAACCTCCCCGGAACCC	0.567																																						uc001biy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)TCC>TTC		sister-of-mammalian grainyhead protein isoform							83.0	81.0	82.0					1																	24663599		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663599C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.644C>T	1.37:g.24663599C>T	ENSP00000288955:p.Ser215Phe					GRHL3_uc001bix.2_Missense_Mutation_p.S215F|GRHL3_uc001biz.2_Missense_Mutation_p.S122F	p.S220F	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	705	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	215					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.659C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905223	0.72868	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.12361	2.9;2.69;2.88;2.9;2.89	6.06	6.06	0.98353	.	0.912106	0.09440	N	0.801923	T	0.14356	0.0347	N	0.14661	0.345	0.30466	N	0.773762	P;P;P	0.42941	0.794;0.755;0.755	P;B;B	0.45998	0.5;0.367;0.367	T	0.08391	-1.0724	10	0.62326	D	0.03	-28.446	13.0756	0.59085	0.2501:0.7499:0.0:0.0	.	169;220;215	A2A297;Q8TE85-2;G3XAF0	.;.;.	F	215;122;215;169;220	ENSP00000354943:S215F;ENSP00000340543:S122F;ENSP00000288955:S215F;ENSP00000348333:S169F;ENSP00000236255:S220F	ENSP00000236255:S220F	S	+	2	0	GRHL3	24536186	0.991000	0.36638	1.000000	0.80357	0.876000	0.50452	3.615000	0.54167	2.882000	0.98803	0.655000	0.94253	TCC		PASS	0.567	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		7	19	7	19	---	---	---	---
RCAN3	11123	broad.mit.edu	37	1	24861622	24861622	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24861622C>T	ENST00000374395.4	+	5	894	c.581C>T	c.(580-582)cCc>cTc	p.P194L	RCAN3_ENST00000538532.1_Missense_Mutation_p.P136L|RCAN3_ENST00000412742.2_Missense_Mutation_p.P137S|RCAN3_ENST00000436717.2_Missense_Mutation_p.P184L|RCAN3_ENST00000374393.2_Missense_Mutation_p.P79S	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	194					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)	p.P194L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GAGTCGACACCCAGCGTGGTG	0.473																																						uc001bjj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)CCC>CTC		Down syndrome critical region gene 1-like 2							44.0	46.0	46.0					1																	24861622		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24861622C>T		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.581C>T	1.37:g.24861622C>T	ENSP00000363516:p.Pro194Leu					RCAN3_uc009vrd.2_Missense_Mutation_p.P184L|RCAN3_uc009vre.2_Missense_Mutation_p.P136L|RCAN3_uc009vrf.2_Missense_Mutation_p.P137S|RCAN3_uc009vrg.2_Missense_Mutation_p.P79S	p.P194L	NM_013441	NP_038469	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	5	894	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	194					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.581C>T	CCDS254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.552103|4.552103	0.86127|0.86127	.|.	.|.	ENSG00000117602|ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532|ENST00000412742;ENST00000374393	T;T;T|.	0.64803|.	-0.12;0.24;0.13|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74207|0.74207	0.3686|0.3686	M|M	0.90759|0.90759	3.145|3.145	0.41210|0.41210	D|D	0.986435|0.986435	D;D;D|B;B	0.89917|0.31548	1.0;0.999;1.0|0.328;0.096	D;D;D|B;B	0.97110|0.28385	0.997;0.976;1.0|0.079;0.089	T|T	0.76358|0.76358	-0.2988|-0.2988	10|9	0.87932|0.45353	D|T	0|0.12	-10.2654|-10.2654	19.6512|19.6512	0.95812|0.95812	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	136;184;194|79;137	A4GU14;Q9UKA8-2;Q9UKA8|E7EWD8;E7ENV1	.;.;RCAN3_HUMAN|.;.	L|S	194;184;136|137;79	ENSP00000363516:P194L;ENSP00000414447:P184L;ENSP00000445401:P136L|.	ENSP00000363516:P194L|ENSP00000363514:P79S	P|P	+|+	2|1	0|0	RCAN3|RCAN3	24734209|24734209	1.000000|1.000000	0.71417|0.71417	0.192000|0.192000	0.23308|0.23308	0.707000|0.707000	0.40811|0.40811	7.445000|7.445000	0.80570|0.80570	2.712000|2.712000	0.92718|0.92718	0.591000|0.591000	0.81541|0.81541	CCC|CCA		PASS	0.473	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			6	26	6	26	---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24993329	24993329	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:24993329C>T	ENST00000323848.9	+	13	1967	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S563F|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.S560F|SRRM1_ENST00000537199.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	551	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S551F(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAAGTCCATCCCCACCACCC	0.522																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1651-1653)TCC>TTC		serine/arginine repetitive matrix 1							54.0	48.0	50.0					1																	24993329		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993329C>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1652C>T	1.37:g.24993329C>T	ENSP00000326261:p.Ser551Phe					SRRM1_uc010oel.1_Missense_Mutation_p.S563F|SRRM1_uc009vrh.1_Missense_Mutation_p.S524F|SRRM1_uc009vri.1_Missense_Mutation_p.S480F|SRRM1_uc010oem.1_RNA	p.S551F	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	1876	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	551			Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1652C>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867242	0.72065	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.59502	0.33;0.26;0.5	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000008	T	0.74291	0.3697	L	0.59436	1.845	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	T	0.75348	-0.3349	10	0.72032	D	0.01	-1.7754	19.3453	0.94361	0.0:1.0:0.0:0.0	.	563;551	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	F	551;563;560	ENSP00000326261:S551F;ENSP00000391430:S563F;ENSP00000363510:S560F	ENSP00000326261:S551F	S	+	2	0	SRRM1	24865916	0.999000	0.42202	0.998000	0.56505	0.935000	0.57460	5.831000	0.69330	2.654000	0.90174	0.650000	0.86243	TCC		PASS	0.522	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	17	5	17	---	---	---	---
RSRP1	57035	broad.mit.edu	37	1	25572955	25572955	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:25572955G>A	ENST00000243189.7	-	2	776	c.500C>T	c.(499-501)cCc>cTc	p.P167L	C1orf63_ENST00000417642.2_Missense_Mutation_p.P160L|C1orf63_ENST00000431849.2_Missense_Mutation_p.P167L|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		167	Arg/Ser-rich.							p.P167L(1)		breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAAGCGAAAGGGGGTTCTGCT	0.547																																						uc001bjw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(499-501)CCC>CTC		hypothetical protein LOC57035							144.0	145.0	145.0					1																	25572955		2203	4300	6503	SO:0001583	missense	57035							g.chr1:25572955G>A																												ENST00000243189.7:c.500C>T	1.37:g.25572955G>A	ENSP00000243189:p.Pro167Leu						p.P167L	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	752	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	167			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	ENST00000243189.7	37	c.500C>T	CCDS260.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669280	0.88348	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849;ENST00000511740	T;T;T	0.70986	-0.13;-0.33;-0.53	4.42	4.42	0.53409	.	0.000000	0.40818	N	0.001002	T	0.82029	0.4948	M	0.66939	2.045	0.39595	D	0.969647	D	0.89917	1.0	D	0.87578	0.998	D	0.84920	0.0853	10	0.87932	D	0	-25.4779	14.6872	0.69057	0.0:0.0:1.0:0.0	.	167	Q9BUV0	CA063_HUMAN	L	167;160;167;99	ENSP00000243189:P167L;ENSP00000411631:P160L;ENSP00000391510:P167L	ENSP00000243189:P167L	P	-	2	0	C1orf63	25445542	0.995000	0.38212	0.520000	0.27837	0.939000	0.58152	3.541000	0.53618	2.446000	0.82766	0.555000	0.69702	CCC		PASS	0.547	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			8	77	8	77	---	---	---	---
PAQR7	164091	broad.mit.edu	37	1	26189845	26189845	+	Silent	SNP	G	G	A	rs146982273	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:26189845G>A	ENST00000374296.3	-	2	1152	c.486C>T	c.(484-486)atC>atT	p.I162I	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	162					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.I162I(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCGGGCTCGATAGCATAGT	0.547													g|||	11	0.00219649	0.0	0.0	5008	,	,		20996	0.0		0.0	False		,,,				2504	0.0112				Esophageal Squamous(111;1206 1556 18433 19151 38418)	uc001bkx.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(484-486)ATC>ATT		progestin and adipoQ receptor family member VII		A		0,4406		0,0,2203	90.0	96.0	94.0		486	-9.7	0.1	1	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PAQR7	NM_178422.5		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		162/347	26189845	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189845G>A		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.486C>T	1.37:g.26189845G>A							p.I162I	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1153	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	162			Extracellular (Potential).		A2A2D3|Q5XKF9|Q86VE4	Silent	SNP	ENST00000374296.3	37	c.486C>T	CCDS267.1																																																																																				PASS	0.547	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		12	65	12	65	---	---	---	---
SLC30A2	7780	broad.mit.edu	37	1	26369942	26369942	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:26369942A>G	ENST00000374278.3	-	3	588	c.372T>C	c.(370-372)atT>atC	p.I124I	SLC30A2_ENST00000374276.3_Silent_p.I173I|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	124					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.I173I(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCCCGTCAATTTCATAGT	0.612																																						uc001blh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)ATT>ATC		solute carrier family 30, member 2 isoform 2							132.0	110.0	117.0					1																	26369942		2203	4300	6503	SO:0001819	synonymous_variant	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26369942A>G	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.372T>C	1.37:g.26369942A>G						SLC30A2_uc001blg.1_Silent_p.I173I	p.I124I	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	3	589	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	124			Vacuolar (Potential).		Q71RC8	Silent	SNP	ENST00000374278.3	37	c.372T>C	CCDS272.1																																																																																				PASS	0.612	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		5	22	5	22	---	---	---	---
CEP85	64793	broad.mit.edu	37	1	26596025	26596025	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:26596025C>T	ENST00000252992.4	+	9	1700	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	CEP85_ENST00000451429.2_Silent_p.T472T|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	523						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.T523T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TGGAGGAGACCCAGGCAATCT	0.502																																						uc001bls.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1567-1569)ACC>ACT		coiled-coil domain containing 21							71.0	70.0	71.0					1																	26596025		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26596025C>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1569C>T	1.37:g.26596025C>T						CCDC21_uc001blr.2_Silent_p.T523T|CCDC21_uc010ofa.1_Silent_p.T472T|CCDC21_uc001blt.1_5'UTR	p.T523T	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	9	1700	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	523			Potential.		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.1569C>T	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	8.774	0.926609	0.18056	.	.	ENSG00000130695	ENST00000453146	.	.	.	5.06	-3.31	0.04988	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.37098	D	0.899773	.	.	.	.	.	.	T	0.35943	-0.9768	4	.	.	.	-7.434	2.8023	0.05418	0.3949:0.2921:0.1931:0.1199	.	.	.	.	L	197	.	.	P	+	2	0	CEP85	26468612	0.878000	0.30173	0.767000	0.31495	0.938000	0.57974	-0.104000	0.10923	-0.886000	0.03966	-0.310000	0.09108	CCC		PASS	0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		7	30	7	30	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27056296	27056296	+	Missense_Mutation	SNP	C	C	A	rs572680423		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27056296C>A	ENST00000324856.7	+	2	1663	c.1292C>A	c.(1291-1293)cCg>cAg	p.P431Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.P48Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.P431Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	431					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.P431Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGGTACCCGATGACCATG	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1291-1293)CCG>CAG		AT rich interactive domain 1A isoform a							43.0	47.0	46.0					1																	27056296		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27056296C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1292C>A	1.37:g.27056296C>A	ENSP00000320485:p.Pro431Gln					ARID1A_uc001bmt.1_Missense_Mutation_p.P431Q|ARID1A_uc001bmu.1_Missense_Mutation_p.P431Q|ARID1A_uc001bmw.1_Missense_Mutation_p.P48Q	p.P431Q	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	2	1665	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	431					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1292C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.674991	0.47781	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	T;T;T;T	0.58797	3.12;2.77;0.31;3.21	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.34521	1.04	0.80722	D	1	B;P;B	0.35226	0.359;0.491;0.359	B;B;B	0.33568	0.08;0.166;0.08	T	0.50701	-0.8797	10	0.54805	T	0.06	-10.7	15.9246	0.79606	0.1356:0.8644:0.0:0.0	.	431;431;85	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	Q	431;431;48;48	ENSP00000320485:P431Q;ENSP00000387636:P431Q;ENSP00000432473:P48Q;ENSP00000363267:P48Q	ENSP00000320485:P431Q	P	+	2	0	ARID1A	26928883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.600000	0.67599	2.824000	0.97209	0.650000	0.86243	CCG		PASS	0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	14	3	14	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27100302	27100302	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27100302C>T	ENST00000324856.7	+	17	4385	c.4014C>T	c.(4012-4014)tcC>tcT	p.S1338S	ARID1A_ENST00000374152.2_Silent_p.S955S|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Silent_p.S1338S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1338	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1338S(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACATGATTCCTATGGCAATC	0.542			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - coding silent(1)	p.S1338fs*106(2)	lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4012-4014)TCC>TCT		AT rich interactive domain 1A isoform a							195.0	195.0	195.0					1																	27100302		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100302C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4014C>T	1.37:g.27100302C>T						ARID1A_uc001bmt.1_Silent_p.S1337S|ARID1A_uc001bmu.1_Silent_p.S1338S|ARID1A_uc001bmw.1_Silent_p.S955S|ARID1A_uc001bmx.1_Silent_p.S184S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.S1338S	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	17	4387	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1338			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.4014C>T	CCDS285.1																																																																																				PASS	0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		79	98	79	98	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27106700	27106700	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27106700C>T	ENST00000324856.7	+	20	6682	c.6311C>T	c.(6310-6312)tCc>tTc	p.S2104F	ARID1A_ENST00000374152.2_Missense_Mutation_p.S1721F|ARID1A_ENST00000540690.1_Missense_Mutation_p.S432F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1887F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2104					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S2104F(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACCCCTTTTCCACCCTGGGC	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6310-6312)TCC>TTC		AT rich interactive domain 1A isoform a							87.0	85.0	85.0					1																	27106700		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106700C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6311C>T	1.37:g.27106700C>T	ENSP00000320485:p.Ser2104Phe					ARID1A_uc001bmu.1_Missense_Mutation_p.S1887F|ARID1A_uc001bmx.1_Missense_Mutation_p.S950F|ARID1A_uc009vsm.1_Missense_Mutation_p.S432F|ARID1A_uc009vsn.1_Missense_Mutation_p.S346F	p.S2104F	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6684	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2104					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6311C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	9.834	1.189136	0.21954	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.07	4.15	0.48705	Armadillo-like helical (1);	0.174357	0.51477	D	0.000098	T	0.19127	0.0459	N	0.19112	0.55	0.40635	D	0.981892	P;B;B	0.36495	0.556;0.427;0.374	B;B;B	0.35073	0.195;0.185;0.116	T	0.08066	-1.0740	10	0.87932	D	0	-9.9738	8.679	0.34196	0.0:0.7715:0.0:0.2285	.	1721;2104;1887	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	F	2104;1887;1721;432	ENSP00000320485:S2104F;ENSP00000387636:S1887F;ENSP00000363267:S1721F;ENSP00000442437:S432F	ENSP00000320485:S2104F	S	+	2	0	ARID1A	26979287	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.661000	0.61518	1.520000	0.48965	0.585000	0.79938	TCC		PASS	0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		25	57	25	57	---	---	---	---
GPATCH3	63906	broad.mit.edu	37	1	27217599	27217599	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27217599G>A	ENST00000361720.5	-	7	1503	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	494							nucleic acid binding (GO:0003676)	p.L494F(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)		TGGCGGCGGAGCAGTGACTCC	0.572																																						uc001bne.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)CTC>TTC		G patch domain containing 3							58.0	51.0	53.0					1																	27217599		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27217599G>A	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.1480C>T	1.37:g.27217599G>A	ENSP00000354645:p.Leu494Phe					GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.L305F	p.L494F	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)	7	1509	-		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)	494					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.1480C>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809919	0.90707	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000450844	T;T	0.50001	1.34;0.76	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	L	0.51422	1.61	0.58432	D	0.999997	D	0.65815	0.995	P	0.60068	0.868	T	0.58250	-0.7669	10	0.59425	D	0.04	-18.5416	11.7334	0.51750	0.0807:0.0:0.9193:0.0	.	494	Q96I76	GPTC3_HUMAN	F	494;476;112	ENSP00000354645:L494F;ENSP00000399036:L112F	ENSP00000354645:L494F	L	-	1	0	GPATCH3	27090186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.236000	0.65354	2.543000	0.85770	0.655000	0.94253	CTC		PASS	0.572	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		8	10	8	10	---	---	---	---
KDF1	126695	broad.mit.edu	37	1	27278630	27278630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27278630C>T	ENST00000320567.5	-	2	330	c.242G>A	c.(241-243)tGg>tAg	p.W81*		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		81	Cys-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)		p.W81*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCCACACCCAGGGTCGCCA	0.672																																						uc001bni.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(241-243)TGG>TAG		hypothetical protein LOC126695							20.0	28.0	25.0					1																	27278630		2200	4297	6497	SO:0001587	stop_gained	126695							g.chr1:27278630C>T																												ENST00000320567.5:c.242G>A	1.37:g.27278630C>T	ENSP00000319179:p.Trp81*						p.W81*	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	331	-		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)	81			Cys-rich.		Q5QP32|Q8N0S7	Nonsense_Mutation	SNP	ENST00000320567.5	37	c.242G>A	CCDS293.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406454	0.83230	.	.	ENSG00000175707	ENST00000320567	.	.	.	5.05	5.05	0.67936	.	0.191853	0.43579	D	0.000558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.556	0.39339	0.0:0.8742:0.0:0.1258	.	.	.	.	X	81	.	ENSP00000319179:W81X	W	-	2	0	C1orf172	27151217	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.579000	0.46059	2.616000	0.88540	0.650000	0.86243	TGG		PASS	0.672	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			6	8	6	8	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27427075	27427075	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:27427075G>T	ENST00000263980.3	-	12	2746	c.2171C>A	c.(2170-2172)cCg>cAg	p.P724Q	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.P385Q	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	724					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.P724Q(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGTGACTGCGGGGAAGCCGG	0.607																																						uc001bnm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2170-2172)CCG>CAG		solute carrier family 9, isoform A1	Amiloride(DB00594)						191.0	187.0	189.0					1																	27427075		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427075G>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2171C>A	1.37:g.27427075G>T	ENSP00000263980:p.Pro724Gln					SLC9A1_uc001bnl.2_Missense_Mutation_p.P228Q|SLC9A1_uc010ofk.1_Missense_Mutation_p.P385Q	p.P724Q	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2797	-			724			Cytoplasmic (Potential).		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2171C>A	CCDS295.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667716	0.88348	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.52295	0.67;0.77	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.45094	0.1325	M	0.65498	2.005	0.80722	D	1	P	0.34629	0.46	B	0.32465	0.146	T	0.40156	-0.9578	10	0.17832	T	0.49	.	15.6662	0.77230	0.0:0.0:1.0:0.0	.	724	P19634	SL9A1_HUMAN	Q	724;228;385;145	ENSP00000263980:P724Q;ENSP00000445520:P385Q	ENSP00000263980:P724Q	P	-	2	0	SLC9A1	27299662	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	6.154000	0.71826	2.365000	0.80145	0.585000	0.79938	CCG		PASS	0.607	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		5	131	5	131	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31437699	31437699	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:31437699G>A	ENST00000257075.5	-	14	2238	c.2145C>T	c.(2143-2145)gaC>gaT	p.D715D	PUM1_ENST00000373742.2_Silent_p.D656D|PUM1_ENST00000440538.2_Silent_p.D689D|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000426105.2_Silent_p.D715D|PUM1_ENST00000373747.3_Silent_p.D716D|PUM1_ENST00000423018.2_Silent_p.D571D|PUM1_ENST00000424085.2_Silent_p.D473D|PUM1_ENST00000373741.4_Silent_p.D751D	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	715	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.D715D(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTATAAAGGTCACTGCTGC	0.507																																						uc001bsi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2143-2145)GAC>GAT		pumilio 1 isoform 2							81.0	84.0	83.0					1																	31437699		2203	4300	6503	SO:0001819	synonymous_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31437699G>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2145C>T	1.37:g.31437699G>A						PUM1_uc001bsf.1_Silent_p.D381D|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.D715D|PUM1_uc001bsj.1_Silent_p.D689D|PUM1_uc010oga.1_Silent_p.D571D|PUM1_uc001bsk.1_Silent_p.D751D|PUM1_uc010ogb.1_Silent_p.D656D	p.D715D	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	14	2258	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	715			Ser-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Silent	SNP	ENST00000257075.5	37	c.2145C>T	CCDS338.1	.	.	.	.	.	.	.	.	.	.	G	4.883	0.164143	0.09287	.	.	ENSG00000134644	ENST00000498419	.	.	.	5.54	4.61	0.57282	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58651	-0.7599	4	.	.	.	-5.2391	9.9844	0.41832	0.0724:0.1391:0.7885:0.0	.	.	.	.	S	427	.	.	P	-	1	0	PUM1	31210286	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.002000	0.40835	1.327000	0.45338	0.655000	0.94253	CCT		PASS	0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			5	29	5	29	---	---	---	---
TINAGL1	64129	broad.mit.edu	37	1	32051059	32051059	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:32051059G>A	ENST00000271064.7	+	9	1142	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	TINAGL1_ENST00000457433.2_Missense_Mutation_p.E325K|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	356					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E356K(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GATCATGAAGGAGCTGATGGA	0.577																																						uc001bta.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GAG>AAG		tubulointerstitial nephritis antigen-like 1							197.0	188.0	191.0					1																	32051059		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32051059G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1066G>A	1.37:g.32051059G>A	ENSP00000271064:p.Glu356Lys					TINAGL1_uc001bsz.2_Missense_Mutation_p.E211K|TINAGL1_uc010ogj.1_Missense_Mutation_p.E325K|TINAGL1_uc010ogk.1_Missense_Mutation_p.E356K	p.E356K	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	9	1192	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	356					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.1066G>A	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	34	5.397762	0.96009	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.85484	-1.99;-1.99	5.31	5.31	0.75309	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92502	0.7619	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	D	0.93119	0.6523	10	0.87932	D	0	.	18.1419	0.89642	0.0:0.0:1.0:0.0	.	325;356	B4DPK6;Q9GZM7	.;TINAL_HUMAN	K	325;356;344	ENSP00000395137:E325K;ENSP00000271064:E356K	ENSP00000271064:E356K	E	+	1	0	TINAGL1	31823646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.389000	0.79806	2.655000	0.90218	0.655000	0.94253	GAG		PASS	0.577	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		37	66	37	66	---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32626221	32626221	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:32626221C>T	ENST00000373625.3	+	7	657	c.564C>T	c.(562-564)gtC>gtT	p.V188V	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.V193V|KPNA6_ENST00000537234.1_Silent_p.V185V	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	188	NLS binding site (major). {ECO:0000250}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.V188V(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TTCAGGCAGTCTGGGCACTGG	0.438																																						uc001bug.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)GTC>GTT		karyopherin alpha 6							201.0	154.0	170.0					1																	32626221		2203	4300	6503	SO:0001819	synonymous_variant	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32626221C>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.564C>T	1.37:g.32626221C>T						KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Silent_p.V185V|KPNA6_uc010ogy.1_Silent_p.V193V|KPNA6_uc009vtz.2_Silent_p.V83V	p.V188V	NM_012316	NP_036448	O60684	IMA7_HUMAN			7	652	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	188			ARM 3.|NLS binding site (major) (By similarity).		B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	ENST00000373625.3	37	c.564C>T	CCDS352.1																																																																																				PASS	0.438	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		8	14	8	14	---	---	---	---
DCDC2B	149069	broad.mit.edu	37	1	32680440	32680440	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:32680440G>A	ENST00000409358.1	+	7	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	TMEM234_ENST00000485689.1_5'Flank	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	253					intracellular signal transduction (GO:0035556)			p.E253K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTCCAAAGGAACCAGACCG	0.557																																						uc001bun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GAA>AAA		doublecortin domain containing 2B							76.0	77.0	77.0					1																	32680440		1965	4137	6102	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32680440G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.757G>A	1.37:g.32680440G>A	ENSP00000386870:p.Glu253Lys					C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA	p.E253K	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			7	757	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	253					B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.757G>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.565882	0.00903	.	.	ENSG00000222046	ENST00000409358	T	0.33654	1.4	3.97	2.1	0.27182	.	.	.	.	.	T	0.24928	0.0605	L	0.51422	1.61	0.53688	D	0.999972	B	0.02656	0.0	B	0.06405	0.002	T	0.05903	-1.0857	9	0.07990	T	0.79	.	6.3463	0.21351	0.224:0.0:0.776:0.0	.	253	A2VCK2	DCD2B_HUMAN	K	253	ENSP00000386870:E253K	ENSP00000386870:E253K	E	+	1	0	DCDC2B	32453027	0.084000	0.21492	0.741000	0.31004	0.177000	0.22998	0.561000	0.23515	0.650000	0.30769	-0.140000	0.14226	GAA		PASS	0.557	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		24	42	24	42	---	---	---	---
RBBP4	5928	broad.mit.edu	37	1	33134917	33134917	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:33134917C>T	ENST00000373493.5	+	7	1006	c.847C>T	c.(847-849)Cct>Tct	p.P283S	RBBP4_ENST00000373485.1_Missense_Mutation_p.P283S|RBBP4_ENST00000544435.1_Missense_Mutation_p.P31S|RBBP4_ENST00000458695.2_Missense_Mutation_p.P248S|RBBP4_ENST00000414241.3_Missense_Mutation_p.P282S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	283					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)	p.P283S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTCTTTCAATCCTTATAGTGA	0.368																																						uc001bvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)CCT>TCT		retinoblastoma binding protein 4 isoform a							77.0	76.0	76.0					1																	33134917		2203	4300	6503	SO:0001583	missense	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33134917C>T	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.847C>T	1.37:g.33134917C>T	ENSP00000362592:p.Pro283Ser					RBBP4_uc001bvs.2_Missense_Mutation_p.P282S|RBBP4_uc010ohj.1_Missense_Mutation_p.P31S|RBBP4_uc010ohk.1_Missense_Mutation_p.P248S	p.P283S	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			7	1006	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	283			WD 4.		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.847C>T	CCDS366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.734126|4.734126	0.89482|0.89482	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000475321	T;T;T;T;T;T|.	0.70399|.	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48|.	5.27|5.27	5.27|5.27	0.74061|0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76421|0.76421	0.3985|0.3985	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.994;0.991|.	D;D|.	0.68192|.	0.926;0.956|.	T|T	0.75903|0.75903	-0.3153|-0.3153	10|5	0.72032|.	D|.	0.01|.	.|.	18.2464|18.2464	0.89988|0.89988	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	282;283|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	S|F	282;283;31;283;248;21|85	ENSP00000398242:P282S;ENSP00000362592:P283S;ENSP00000442384:P31S;ENSP00000362584:P283S;ENSP00000396057:P248S;ENSP00000436565:P21S|.	ENSP00000362584:P283S|.	P|S	+|+	1|2	0|0	RBBP4|RBBP4	32907504|32907504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.634000|2.634000	0.89283|0.89283	0.591000|0.591000	0.81541|0.81541	CCT|TCC		PASS	0.368	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		16	39	16	39	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33236902	33236902	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:33236902C>T	ENST00000373480.1	+	6	2048	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	KIAA1522_ENST00000401073.2_Missense_Mutation_p.P708S|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P660S	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	649	Pro-rich.							p.P708S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGTCCCCTCCCACTCCCCA	0.622																																						uc001bvv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1945-1947)CCC>TCC		hypothetical protein LOC57648							43.0	47.0	46.0					1																	33236902		1936	4140	6076	SO:0001583	missense	57648							g.chr1:33236902C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1945C>T	1.37:g.33236902C>T	ENSP00000362579:p.Pro649Ser					KIAA1522_uc001bvu.1_Missense_Mutation_p.P708S|KIAA1522_uc010ohm.1_Missense_Mutation_p.P660S|KIAA1522_uc010ohn.1_Intron	p.P649S	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	2081	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	649			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1945C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.982614	0.00448	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.12147	2.71;2.73;2.74	3.94	-0.365	0.12549	.	0.491337	0.16590	N	0.207781	T	0.05823	0.0152	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.43621	-0.9380	10	0.02654	T	1	-2.5499	8.2414	0.31662	0.0:0.5776:0.0:0.4224	.	660;649;708	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	S	708;660;649	ENSP00000383851:P708S;ENSP00000362580:P660S;ENSP00000362579:P649S	ENSP00000362579:P649S	P	+	1	0	KIAA1522	33009489	0.002000	0.14202	0.003000	0.11579	0.033000	0.12548	0.716000	0.25836	-0.044000	0.13491	-0.254000	0.11334	CCC		PASS	0.622	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			16	21	16	21	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34066511	34066511	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:34066511G>T	ENST00000373380.1	-	23	3649	c.3429C>A	c.(3427-3429)ttC>ttA	p.F1143L	CSMD2_ENST00000373388.2_Missense_Mutation_p.F369L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F369L|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.F2270L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2272	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2272L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCACGGTGGAACTTGAGCA	0.592																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6814-6816)TTC>TTA		CUB and Sushi multiple domains 2							216.0	186.0	196.0					1																	34066511		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34066511G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3429C>A	1.37:g.34066511G>T	ENSP00000362478:p.Phe1143Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.F2270L|CSMD2_uc001bxo.1_Missense_Mutation_p.F1143L	p.F2272L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			45	6845	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2272			Extracellular (Potential).|CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6816C>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.414679	0.83449	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.87	1.91	0.25777	CUB (5);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.83603	2.65	0.51482	D	0.99992	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.91635	0.992;0.999;0.999	T	0.54337	-0.8309	10	0.37606	T	0.19	.	9.0179	0.36182	0.3516:0.0:0.6484:0.0	.	1143;2272;2270	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	2270;1143;369;369	ENSP00000362479:F2270L;ENSP00000362478:F1143L;ENSP00000362475:F369L;ENSP00000362486:F369L	ENSP00000241312:F2272L	F	-	3	2	CSMD2	33839098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.034000	0.41145	0.397000	0.25310	0.655000	0.94253	TTC		PASS	0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		32	32	32	32	---	---	---	---
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	HMGB4_ENST00000519684.1_Silent_p.P116P|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	116						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567																																						uc001bxp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)CCG>CCA		HMG2 like isoform 1							82.0	86.0	84.0					1																	34330140		2203	4299	6502	SO:0001819	synonymous_variant	127540					nucleus	DNA binding	g.chr1:34330140G>A		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.348G>A	1.37:g.34330140G>A						CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Silent_p.P42P	p.P116P	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	2091	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	116					B2R4X7|Q0QWA4	Silent	SNP	ENST00000522796.1	37	c.348G>A	CCDS30668.1																																																																																				PASS	0.567	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		16	41	16	41	---	---	---	---
GJB4	127534	broad.mit.edu	37	1	35227199	35227199	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:35227199C>T	ENST00000339480.1	+	2	714	c.344C>T	c.(343-345)tCc>tTc	p.S115F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	115					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S115F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATGCCCCGTCCCTGTACGAC	0.617																																						uc001bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(343-345)TCC>TTC		gap junction protein, beta 4							96.0	71.0	80.0					1																	35227199		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227199C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.344C>T	1.37:g.35227199C>T	ENSP00000345868:p.Ser115Phe					GJB4_uc001bxw.3_Missense_Mutation_p.S115F	p.S115F	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	714	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	115			Cytoplasmic (Potential).		B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.344C>T	CCDS383.1	.	.	.	.	.	.	.	.	.	.	C	6.521	0.464409	0.12402	.	.	ENSG00000189433	ENST00000339480	D	0.97850	-4.57	5.56	4.6	0.57074	.	1.535970	0.03854	N	0.272728	D	0.96021	0.8704	L	0.43152	1.355	0.09310	N	1	B	0.24533	0.105	B	0.25140	0.058	D	0.87182	0.2228	10	0.41790	T	0.15	.	10.0256	0.42070	0.2201:0.654:0.1259:0.0	.	115	Q9NTQ9	CXB4_HUMAN	F	115	ENSP00000345868:S115F	ENSP00000345868:S115F	S	+	2	0	GJB4	34999786	0.000000	0.05858	0.275000	0.24674	0.031000	0.12232	0.230000	0.17852	2.640000	0.89533	0.655000	0.94253	TCC		PASS	0.617	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		8	22	8	22	---	---	---	---
AGO3	192669	broad.mit.edu	37	1	36439031	36439031	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:36439031C>T	ENST00000373191.4	+	5	926	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	AGO3_ENST00000324350.5_Silent_p.L193L|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Silent_p.L193L	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	193					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.L193L(1)									TGACCACCCTCTGGGAGGGGG	0.463																																						uc001bzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)CTG>TTG		eukaryotic translation initiation factor 2C, 3							141.0	143.0	142.0					1																	36439031		2203	4300	6503	SO:0001819	synonymous_variant	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36439031C>T	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.577C>T	1.37:g.36439031C>T						EIF2C3_uc001bzn.1_Silent_p.L193L|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_Intron	p.L193L	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			5	833	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	193					B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	c.577C>T	CCDS399.1																																																																																				PASS	0.463	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		35	62	35	62	---	---	---	---
SH3D21	79729	broad.mit.edu	37	1	36785735	36785735	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:36785735T>G	ENST00000426732.2	+	13	1408	c.1123T>G	c.(1123-1125)Tct>Gct	p.S375A	EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Missense_Mutation_p.S491A|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.S380A|SH3D21_ENST00000312808.4_Missense_Mutation_p.S137A			A4FU49	SH321_HUMAN	SH3 domain containing 21	375						extracellular vesicular exosome (GO:0070062)		p.S491A(1)|p.S137A(1)		endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCAGAGCTTTCTGAAGAAGA	0.512																																						uc010oia.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1471-1473)TCT>GCT		SH3 domain-containing protein C1orf113 isoform							54.0	59.0	57.0					1																	36785735		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36785735T>G	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1123T>G	1.37:g.36785735T>G	ENSP00000408613:p.Ser375Ala					C1orf113_uc010oib.1_Missense_Mutation_p.S380A|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.S137A	p.S491A	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN			14	1499	+		Myeloproliferative disorder(586;0.0393)	375					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1471T>G		.	.	.	.	.	.	.	.	.	.	T	7.420	0.636487	0.14386	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.46063	1.35;1.8;0.88;1.78	3.71	-2.9	0.05648	.	43.076900	0.00166	N	0.000000	T	0.25975	0.0633	L	0.38838	1.175	0.09310	N	1	B;B	0.32365	0.367;0.143	B;B	0.22880	0.042;0.019	T	0.03898	-1.0994	10	0.26408	T	0.33	.	1.8916	0.03249	0.1585:0.3913:0.1629:0.2873	.	380;375	A4FU49-3;A4FU49	.;SH321_HUMAN	A	491;375;137;380	ENSP00000403476:S491A;ENSP00000408613:S375A;ENSP00000321936:S137A;ENSP00000421294:S380A	ENSP00000321936:S137A	S	+	1	0	SH3D21	36558322	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.176000	0.09811	-0.600000	0.05790	-0.490000	0.04691	TCT		PASS	0.512	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		9	48	9	48	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38409561	38409561	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:38409561A>T	ENST00000373026.1	-	3	157	c.157T>A	c.(157-159)Ttc>Atc	p.F53I	INPP5B_ENST00000373023.2_Missense_Mutation_p.F53I|INPP5B_ENST00000373021.1_Missense_Mutation_p.F53I|INPP5B_ENST00000373024.3_Missense_Mutation_p.F53I			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	53	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)	p.F90I(1)|p.F53I(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATAGAGGAAGAGACTAAGG	0.602																																						uc001ccg.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)	1						c.(157-159)TTC>ATC		inositol polyphosphate-5-phosphatase, 75kDa							59.0	58.0	58.0					1																	38409561		1983	4154	6137	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38409561A>T	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.157T>A	1.37:g.38409561A>T	ENSP00000362117:p.Phe53Ile					INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR	p.F53I	NM_005540	NP_005531	P32019	I5P2_HUMAN			4	251	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	53					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.157T>A		.	.	.	.	.	.	.	.	.	.	A	27.0	4.790987	0.90367	.	.	ENSG00000204084	ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000373021	D;D;D;T	0.93547	-3.18;-3.18;-3.24;0.14	5.1	5.1	0.69264	.	0.197635	0.42964	D	0.000624	D	0.95579	0.8563	M	0.66939	2.045	0.80722	D	1	D	0.56968	0.978	D	0.75484	0.986	D	0.95251	0.8360	10	0.51188	T	0.08	.	11.5601	0.50772	1.0:0.0:0.0:0.0	.	53	P32019-2	.	I	53	ENSP00000362114:F53I;ENSP00000362117:F53I;ENSP00000362115:F53I;ENSP00000362112:F53I	ENSP00000362112:F53I	F	-	1	0	INPP5B	38182148	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.599000	0.67592	2.038000	0.60285	0.379000	0.24179	TTC		PASS	0.602	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		7	46	7	46	---	---	---	---
RHBDL2	54933	broad.mit.edu	37	1	39361688	39361688	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:39361688C>T	ENST00000289248.2	-	5	1570	c.562G>A	c.(562-564)Gga>Aga	p.G188R	RHBDL2_ENST00000372985.3_Missense_Mutation_p.G268R|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G188R|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G255R			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.G188R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAGACTCCTCCTGAAGCTCCC	0.443																																						uc001ccu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GGA>AGA		rhomboid protease 2							62.0	61.0	61.0					1																	39361688		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39361688C>T	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.562G>A	1.37:g.39361688C>T	ENSP00000289248:p.Gly188Arg					RHBDL2_uc010oin.1_Missense_Mutation_p.G188R|RHBDL2_uc010oio.1_Missense_Mutation_p.G268R	p.G188R	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		5	790	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	188			Helical; (Potential).		B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.562G>A	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164584	0.94727	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.66	5.66	0.87406	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.988;0.989;0.991	T	0.76293	-0.3012	10	0.87932	D	0	-18.0194	18.5318	0.90995	0.0:1.0:0.0:0.0	.	268;255;188	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	R	188;188;255;268	ENSP00000362081:G188R;ENSP00000289248:G188R;ENSP00000439227:G255R;ENSP00000362076:G268R	ENSP00000289248:G188R	G	-	1	0	RHBDL2	39134275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.752000	0.74898	2.675000	0.91044	0.655000	0.94253	GGA		PASS	0.443	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		14	14	14	14	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39800237	39800237	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:39800237G>A	ENST00000372915.3	+	36	8079	c.7992G>A	c.(7990-7992)gtG>gtA	p.V2664V	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.V1099V|MACF1_ENST00000567887.1_Silent_p.V2696V|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Silent_p.V2659V|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2664					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.V1099V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATGGGGTGAGCGACAAAG	0.403																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3295-3297)GTG>GTA		microfilament and actin filament cross-linker							54.0	54.0	54.0					1																	39800237		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800237G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7992G>A	1.37:g.39800237G>A						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.V1099V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3428	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2664					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3297G>A																																																																																					PASS	0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	24	7	24	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39903523	39903523	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:39903523C>T	ENST00000372915.3	+	70	17847	c.17760C>T	c.(17758-17760)atC>atT	p.I5920I	MACF1_ENST00000539005.1_Silent_p.I3832I|MACF1_ENST00000317713.7_Silent_p.I3962I|MACF1_ENST00000361689.2_Silent_p.I3962I|MACF1_ENST00000289893.4_Silent_p.I4464I|MACF1_ENST00000567887.1_Silent_p.I6058I|MACF1_ENST00000545844.1_Silent_p.I3962I|MACF1_ENST00000564288.1_Silent_p.I6021I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5920					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.I3962I(1)|p.I4464I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCACTGATCCCTGCTGAAG	0.463																																						uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(13390-13392)ATC>ATT		microfilament and actin filament cross-linker							178.0	164.0	169.0					1																	39903523		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39903523C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17760C>T	1.37:g.39903523C>T						MACF1_uc010ois.1_Silent_p.I3962I	p.I4464I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		36	13523	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.13392C>T		.	.	.	.	.	.	.	.	.	.	C	9.236	1.037164	0.19669	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.38	-2.05	0.07321	.	.	.	.	.	T	0.64853	0.2636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61657	-0.7018	4	.	.	.	.	13.7286	0.62774	0.0:0.3337:0.0:0.6663	.	.	.	.	S	2966	.	.	P	+	1	0	MACF1	39676110	0.005000	0.15991	0.965000	0.40720	0.998000	0.95712	-1.157000	0.03157	-0.619000	0.05648	0.563000	0.77884	CCC		PASS	0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	88	14	88	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39927685	39927685	+	Silent	SNP	C	C	A	rs116271948	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:39927685C>A	ENST00000372915.3	+	92	21438	c.21351C>A	c.(21349-21351)acC>acA	p.T7117T	MACF1_ENST00000539005.1_Silent_p.T5029T|MACF1_ENST00000317713.7_Silent_p.T5159T|MACF1_ENST00000361689.2_Silent_p.T5159T|MACF1_ENST00000289893.4_Silent_p.T5661T|MACF1_ENST00000567887.1_Silent_p.T7255T|MACF1_ENST00000545844.1_Silent_p.T5159T|MACF1_ENST00000564288.1_Silent_p.T7218T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7117	C-terminal tail. {ECO:0000250}.|GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T5661T(1)|p.T5159T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCAACAACCGATGCAGATA	0.408																																						uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16981-16983)ACC>ACA		microfilament and actin filament cross-linker							141.0	131.0	134.0					1																	39927685		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39927685C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21351C>A	1.37:g.39927685C>A						MACF1_uc010ois.1_Silent_p.T5159T|MACF1_uc001cde.1_Silent_p.T36T|MACF1_uc001cdf.1_Silent_p.T36T	p.T5661T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	17114	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7117			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.16983C>A		.	.	.	.	.	.	.	.	.	.	C	8.313	0.822563	0.16678	.	.	ENSG00000127603	ENST00000360115;ENST00000442046	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	.	1.1103	0.01703	0.2806:0.339:0.1265:0.2539	.	.	.	.	Q	266;60	.	.	P	+	2	0	MACF1	39700272	0.000000	0.05858	0.691000	0.30163	0.976000	0.68499	-6.130000	0.00079	-1.755000	0.01320	-1.317000	0.01298	CCG		PASS	0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	72	4	72	---	---	---	---
NT5C1A	84618	broad.mit.edu	37	1	40131857	40131857	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:40131857G>A	ENST00000235628.1	-	2	186	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	63					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.R63C(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCGTCCATGCGAAACAAGGCT	0.597																																						uc001cdq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)CGC>TGC		5'-nucleotidase, cytosolic IA							101.0	80.0	87.0					1																	40131857		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131857G>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.187C>T	1.37:g.40131857G>A	ENSP00000235628:p.Arg63Cys						p.R63C	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	187	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	63					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.187C>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888867	0.72524	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.56	3.63	0.41609	.	0.314863	0.34386	N	0.004020	T	0.56934	0.2019	L	0.42245	1.32	0.54753	D	0.999985	D	0.62365	0.991	P	0.48677	0.586	T	0.62751	-0.6788	9	0.87932	D	0	-7.6867	14.1594	0.65436	0.0:0.0:0.8489:0.1511	.	63	Q9BXI3	5NT1A_HUMAN	C	63	.	ENSP00000235628:R63C	R	-	1	0	NT5C1A	39904444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.899000	0.56288	1.037000	0.40024	0.650000	0.86243	CGC		PASS	0.597	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		17	22	17	22	---	---	---	---
ZFP69B	65243	broad.mit.edu	37	1	40929061	40929061	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:40929061C>T	ENST00000411995.2	+	6	1780	c.1405C>T	c.(1405-1407)Cat>Tat	p.H469Y	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.H367Y|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	469					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.H367Y(1)|p.H469Y(1)									TCAGAGAGTCCATACTGGAGT	0.393																																						uc001cfn.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1405-1407)CAT>TAT		zinc finger protein 643							91.0	91.0	91.0					1																	40929061		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40929061C>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1405C>T	1.37:g.40929061C>T	ENSP00000399664:p.His469Tyr					ZNF643_uc001cfl.1_Missense_Mutation_p.H367Y|ZNF643_uc001cfm.1_Missense_Mutation_p.H335Y	p.H469Y	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1702	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	469			C2H2-type 7.		Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1405C>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	17.58	3.423813	0.62733	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.67523	-0.27;-0.27	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84306	0.5443	M	0.92219	3.285	0.36923	D	0.891485	D	0.76494	0.999	D	0.79108	0.992	D	0.89751	0.3940	9	0.87932	D	0	.	12.9325	0.58294	0.0:1.0:0.0:0.0	.	469	Q9UJL9	ZN643_HUMAN	Y	400;469;367	ENSP00000399664:H469Y;ENSP00000354547:H367Y	ENSP00000354547:H367Y	H	+	1	0	ZNF643	40701648	1.000000	0.71417	0.868000	0.34077	0.996000	0.88848	3.649000	0.54417	2.158000	0.67659	0.655000	0.94253	CAT		PASS	0.393	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		15	22	15	22	---	---	---	---
KCNQ4	9132	broad.mit.edu	37	1	41285134	41285134	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:41285134G>T	ENST00000347132.5	+	5	906	c.824G>T	c.(823-825)tGg>tTg	p.W275L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.W275L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	275					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.W275L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GACTCGCTCTGGTGGGGGACG	0.617																																						uc001cgh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(823-825)TGG>TTG		potassium voltage-gated channel KQT-like protein							112.0	99.0	103.0					1																	41285134		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285134G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.824G>T	1.37:g.41285134G>T	ENSP00000262916:p.Trp275Leu					KCNQ4_uc001cgi.1_Missense_Mutation_p.W275L	p.W275L	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		5	906	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	275					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.824G>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288009	0.95517	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.97752	-4.52;-4.52	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.99301	1.0901	10	0.87932	D	0	-13.5156	15.9666	0.79979	0.0:0.0:1.0:0.0	.	275;275	P56696-2;P56696	.;KCNQ4_HUMAN	L	275	ENSP00000262916:W275L;ENSP00000423756:W275L	ENSP00000262916:W275L	W	+	2	0	KCNQ4	41057721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.354000	0.79902	0.563000	0.77884	TGG		PASS	0.617	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		25	44	25	44	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42047565	42047565	+	Silent	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:42047565G>C	ENST00000372583.1	-	4	3789	c.2904C>G	c.(2902-2904)ccC>ccG	p.P968P	HIVEP3_ENST00000372584.1_Silent_p.P968P|HIVEP3_ENST00000429157.2_Silent_p.P968P|HIVEP3_ENST00000247584.5_Silent_p.P968P|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	968	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P968P(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGGGGTTTGGGGCGCATGT	0.602																																						uc001cgz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2902-2904)CCC>CCG		human immunodeficiency virus type I enhancer							55.0	59.0	57.0					1																	42047565		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047565G>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2904C>G	1.37:g.42047565G>C						HIVEP3_uc001cha.3_Silent_p.P968P|HIVEP3_uc001cgy.2_RNA	p.P968P	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	4117	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	968			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2904C>G	CCDS463.1																																																																																				PASS	0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	42	6	42	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42047975	42047975	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:42047975G>A	ENST00000372583.1	-	4	3379	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P832S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P832S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P832S|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	832	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P832S(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGCAGGTGGGGGTGATGGG	0.572																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2494-2496)CCA>TCA		human immunodeficiency virus type I enhancer							66.0	71.0	69.0					1																	42047975		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047975G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2494C>T	1.37:g.42047975G>A	ENSP00000361664:p.Pro832Ser					HIVEP3_uc001cha.3_Missense_Mutation_p.P832S|HIVEP3_uc001cgy.2_RNA	p.P832S	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3707	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	832			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.2494C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120979	0.37436	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	4.95	2.98	0.34508	.	0.000000	0.52532	D	0.000075	T	0.14485	0.0350	L	0.27053	0.805	0.33342	D	0.570022	P;P	0.41597	0.756;0.642	B;B	0.40375	0.327;0.175	T	0.19712	-1.0297	10	0.33141	T	0.24	-0.1161	10.1372	0.42715	0.0761:0.1366:0.7873:0.0	.	832;832	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	832	ENSP00000361665:P832S;ENSP00000361664:P832S;ENSP00000247584:P832S;ENSP00000410828:P832S	ENSP00000247584:P832S	P	-	1	0	HIVEP3	41820562	1.000000	0.71417	0.735000	0.30896	0.491000	0.33493	3.039000	0.49791	1.308000	0.44962	0.462000	0.41574	CCA		PASS	0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		10	51	10	51	---	---	---	---
ERMAP	114625	broad.mit.edu	37	1	43300733	43300733	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:43300733C>T	ENST00000372517.2	+	5	702	c.458C>T	c.(457-459)cCc>cTc	p.P153L	ERMAP_ENST00000328249.3_Missense_Mutation_p.P63L|ERMAP_ENST00000372514.3_Missense_Mutation_p.P153L|RP11-342M1.3_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000487556.1_3'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	153			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P153L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTCTCTCCCCCTCAGCAGTG	0.532																																						uc001cic.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)CCC>CTC		erythroblast membrane-associated protein							166.0	131.0	143.0					1																	43300733		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43300733C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.458C>T	1.37:g.43300733C>T	ENSP00000361595:p.Pro153Leu					ERMAP_uc010ojw.1_Missense_Mutation_p.P214L|ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.P153L|ERMAP_uc001cif.1_Missense_Mutation_p.P63L	p.P153L	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			5	728	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	153		Missing (in Sc-3 allele).	Extracellular (Potential).		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.458C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315242	0.23908	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.56103	0.72;0.72;0.48	5.31	5.31	0.75309	.	0.643102	0.13196	N	0.406344	T	0.52773	0.1755	L	0.58810	1.83	0.09310	N	1	P;B	0.48764	0.915;0.335	B;B	0.41764	0.366;0.086	T	0.54337	-0.8309	10	0.62326	D	0.03	.	14.481	0.67582	0.0:1.0:0.0:0.0	.	214;153	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	L	153;153;63	ENSP00000361595:P153L;ENSP00000361592:P153L;ENSP00000332439:P63L	ENSP00000332439:P63L	P	+	2	0	ERMAP	43073320	0.007000	0.16637	0.013000	0.15412	0.014000	0.08584	1.812000	0.38952	2.467000	0.83353	0.467000	0.42956	CCC		PASS	0.532	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		24	44	24	44	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43778105	43778105	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:43778105G>A	ENST00000372476.3	+	12	1839	c.1760G>A	c.(1759-1761)gGg>gAg	p.G587E	TIE1_ENST00000433781.2_Missense_Mutation_p.G232E	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	587	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G587E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTGGGACGGGACACGGGGG	0.692																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1759-1761)GGG>GAG		tyrosine kinase with immunoglobulin-like and							39.0	40.0	40.0					1																	43778105		2202	4298	6500	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778105G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1760G>A	1.37:g.43778105G>A	ENSP00000361554:p.Gly587Glu					TIE1_uc010okd.1_Missense_Mutation_p.G587E|TIE1_uc010oke.1_Missense_Mutation_p.G542E|TIE1_uc009vwq.2_Missense_Mutation_p.G543E|TIE1_uc010okf.1_Missense_Mutation_p.G232E|TIE1_uc010okg.1_Missense_Mutation_p.G232E	p.G587E	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1839	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	587			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1760G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	7.352	0.623029	0.14193	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.54866	0.55;0.55	5.29	3.2	0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.192177	0.25642	N	0.029268	T	0.29749	0.0743	N	0.14661	0.345	0.09310	N	1	B;P;B;B;P	0.39717	0.096;0.684;0.157;0.117;0.684	B;B;B;B;B	0.37780	0.068;0.258;0.163;0.112;0.258	T	0.13522	-1.0506	10	0.12103	T	0.63	.	9.0891	0.36598	0.0:0.2172:0.65:0.1328	.	232;542;587;232;587	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	E	587;232	ENSP00000361554:G587E;ENSP00000411728:G232E	ENSP00000361554:G587E	G	+	2	0	TIE1	43550692	0.986000	0.35501	0.633000	0.29310	0.224000	0.24922	2.286000	0.43496	1.147000	0.42369	0.563000	0.77884	GGG		PASS	0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	10	7	10	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43898414	43898414	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:43898414C>T	ENST00000562955.1	+	38	5375	c.5375C>T	c.(5374-5376)cCc>cTc	p.P1792L	SZT2_ENST00000372442.1_Missense_Mutation_p.P950L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1849					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.P950L(2)|p.P1792L(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGCCTGGGCCCAGCCGGGGA	0.572																																						uc001cjk.1																			3	Substitution - Missense(3)		lung(3)		0						c.(2848-2850)CCC>CTC		hypothetical protein LOC23334							33.0	35.0	35.0					1																	43898414		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43898414C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5375C>T	1.37:g.43898414C>T	ENSP00000457168:p.Pro1792Leu						p.P950L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			24	3311	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	1849					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2849C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566754	0.65651	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.057832	0.64402	D	0.000001	T	0.75752	0.3892	L	0.46157	1.445	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	T	0.74272	-0.3719	9	0.49607	T	0.09	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	1792	Q5T011-5	.	L	950	.	ENSP00000361519:P950L	P	+	2	0	SZT2	43671001	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.451000	0.66632	2.726000	0.93360	0.655000	0.94253	CCC		PASS	0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	13	4	13	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44422081	44422082	+	Missense_Mutation	DNP	CC	CC	TT	rs376746770		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:44422081_44422082CC>TT	ENST00000372343.3	+	3	1573_1574	c.911_912CC>TT	c.(910-912)aCC>aTT	p.T304I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	304					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T304I(2)|p.T304T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GACATGGAGACCTCCCATGGCA	0.589																																						uc001ckx.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(910-912)ACC>ATC|c.(910-912)ACC>ACT		importin 13																																				SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422081C>T|g.chr1:44422082C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	Exception_encountered	1.37:g.44422081_44422082delinsTT	ENSP00000361418:p.Thr304Ile						p.T304I|p.T304T	NM_014652	NP_055467	O94829	IPO13_HUMAN			3	1706|1707	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	304			HEAT 4.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation|Silent	SNP	ENST00000372343.3	37	c.911C>T|c.912C>T	CCDS503.1																																																																																				PASS	0.589	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		9	15	9	15	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44446940	44446940	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:44446940C>T	ENST00000356836.6	+	2	898	c.108C>T	c.(106-108)gcC>gcT	p.A36A	B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000309519.7_Silent_p.A65A|B4GALT2_ENST00000372324.1_Silent_p.A36A	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	36					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.A36A(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACGTCTACGCCCAGCACCTGG	0.657																																						uc001clg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(106-108)GCC>GCT		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						101.0	84.0	90.0					1																	44446940		2203	4300	6503	SO:0001819	synonymous_variant	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446940C>T	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.108C>T	1.37:g.44446940C>T						B4GALT2_uc001clh.2_5'UTR|B4GALT2_uc010okl.1_Silent_p.A65A|B4GALT2_uc001cli.2_Silent_p.A36A	p.A36A	NM_003780	NP_003771	O60909	B4GT2_HUMAN			2	478	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	36			Helical; Signal-anchor for type II membrane protein; (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Silent	SNP	ENST00000356836.6	37	c.108C>T	CCDS506.1																																																																																				PASS	0.657	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		9	32	9	32	---	---	---	---
KIF2C	11004	broad.mit.edu	37	1	45213357	45213357	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:45213357C>T	ENST00000372224.4	+	4	414	c.301C>T	c.(301-303)Cct>Tct	p.P101S	KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.P101S|KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372217.1_Missense_Mutation_p.P47S	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	101	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.P101S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTCCAAAATTCCTGCTCCAAA	0.398																																						uc001cmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)CCT>TCT		kinesin family member 2C							67.0	68.0	68.0					1																	45213357		2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45213357C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.301C>T	1.37:g.45213357C>T	ENSP00000361298:p.Pro101Ser					KIF2C_uc010olb.1_Missense_Mutation_p.P101S|KIF2C_uc010olc.1_5'UTR|KIF2C_uc001cmh.3_Missense_Mutation_p.P47S	p.P101S	NM_006845	NP_006836	Q99661	KIF2C_HUMAN			4	416	+	Acute lymphoblastic leukemia(166;0.155)		101	IP->NN: Loss of interaction with MAPRE1 and association with microtubule growing ends.		Microtubule tip localization signal.|Globular (Potential).		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.301C>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	c	17.21	3.331593	0.60853	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.75477	1.09;-0.9;-0.75;0.77;-0.94	5.86	5.86	0.93980	.	0.278774	0.40728	N	0.001035	T	0.72550	0.3474	L	0.53249	1.67	0.80722	D	1	B;B;B	0.16396	0.008;0.016;0.017	B;B;B	0.17433	0.006;0.018;0.007	T	0.66658	-0.5868	10	0.44086	T	0.13	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	101;47;101	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	S	101;101;101;92;47	ENSP00000410346:P101S;ENSP00000361298:P101S;ENSP00000361292:P101S;ENSP00000395050:P92S;ENSP00000361291:P47S	ENSP00000361291:P47S	P	+	1	0	KIF2C	44985944	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.005000	0.63972	2.775000	0.95449	0.655000	0.94253	CCT		PASS	0.398	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		4	14	4	14	---	---	---	---
RPS8	6202	broad.mit.edu	37	1	45243440	45243441	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:45243440_45243441CC>TT	ENST00000396651.3	+	4	526_527	c.366_367CC>TT	c.(364-369)ggCCgc>ggTTgc	p.R123C	RPS8_ENST00000372209.3_Missense_Mutation_p.R103C|SNORD55_ENST00000581525.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD46_ENST00000364043.1_RNA|SNORD38B_ENST00000384690.1_RNA|SNORD38A_ENST00000365161.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R123C(2)|p.G122G(1)		central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					TGCCCCTGGGCCGCAAGAAGGG	0.579																																						uc001cmi.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(364-366)GGC>GGT|c.(367-369)CGC>TGC		ribosomal protein S8																																				SO:0001583	missense	6202				endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr1:45243440C>T|g.chr1:45243441C>T	BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	Exception_encountered	1.37:g.45243440_45243441delinsTT	ENSP00000379888:p.Arg123Cys					SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank	p.G122G|p.R123C	NM_001012	NP_001003	P62241	RS8_HUMAN			4	389|390	+	Acute lymphoblastic leukemia(166;0.155)		122|123					P09058|Q6IRL7	Silent|Missense_Mutation	SNP	ENST00000396651.3	37	c.366C>T|c.367C>T	CCDS513.1																																																																																				PASS	0.579	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012		4	25|26	4	25	---	---	---	---
BEST4	266675	broad.mit.edu	37	1	45250841	45250841	+	Missense_Mutation	SNP	G	G	T	rs182412775	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:45250841G>T	ENST00000372207.3	-	6	850	c.851C>A	c.(850-852)cCg>cAg	p.P284Q		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	284						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.P284Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GTACATGTCCGGGTCTCCCAG	0.622																																						uc001cmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)CCG>CAG		bestrophin 4							59.0	66.0	64.0					1																	45250841		2203	4300	6503	SO:0001583	missense	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45250841G>T	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.851C>A	1.37:g.45250841G>T	ENSP00000361281:p.Pro284Gln						p.P284Q	NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN			6	900	-	Acute lymphoblastic leukemia(166;0.155)		284			Extracellular (Potential).		Q5JR93	Missense_Mutation	SNP	ENST00000372207.3	37	c.851C>A	CCDS514.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650100	0.47362	.	.	ENSG00000142959	ENST00000372207	D	0.98455	-4.94	4.77	0.988	0.19796	.	0.500312	0.19799	N	0.105791	D	0.94479	0.8223	N	0.11560	0.145	0.24187	N	0.995564	B	0.28820	0.224	B	0.40565	0.333	D	0.90283	0.4316	10	0.72032	D	0.01	-32.2332	7.0405	0.25017	0.7243:0.0:0.2757:0.0	.	284	Q8NFU0	BEST4_HUMAN	Q	284	ENSP00000361281:P284Q	ENSP00000361281:P284Q	P	-	2	0	BEST4	45023428	0.697000	0.27767	1.000000	0.80357	0.922000	0.55478	2.915000	0.48805	0.098000	0.17522	-0.290000	0.09829	CCG		PASS	0.622	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274		4	40	4	40	---	---	---	---
EIF2B3	8891	broad.mit.edu	37	1	45347342	45347342	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:45347342T>A	ENST00000360403.2	-	7	852	c.726A>T	c.(724-726)tcA>tcT	p.S242S	EIF2B3_ENST00000372183.3_Silent_p.S242S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	242					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)	p.S242S(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTCCCTGTTGTGAGGAAGCTG	0.413																																					Colon(26;357 658 2581 11857 12657)	uc001cmt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(724-726)TCA>TCT		eukaryotic translation initiation factor 2B,							184.0	174.0	178.0					1																	45347342		2203	4300	6503	SO:0001819	synonymous_variant	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45347342T>A	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.726A>T	1.37:g.45347342T>A						EIF2B3_uc001cmu.1_Silent_p.S242S|EIF2B3_uc001cmv.1_Silent_p.S242S|EIF2B3_uc001cmw.2_Silent_p.S242S	p.S242S	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			7	853	-	Acute lymphoblastic leukemia(166;0.155)		242					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	ENST00000360403.2	37	c.726A>T	CCDS517.1	.	.	.	.	.	.	.	.	.	.	T	8.832	0.940038	0.18281	.	.	ENSG00000070785	ENST00000439363	.	.	.	6.08	2.34	0.29019	.	.	.	.	.	T	0.46464	0.1394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24621	-1.0155	4	.	.	.	-4.569	3.9288	0.09275	0.2636:0.1505:0.0:0.5859	.	.	.	.	L	63	.	.	H	-	2	0	EIF2B3	45119929	1.000000	0.71417	0.989000	0.46669	0.777000	0.43975	1.163000	0.31798	0.132000	0.18615	-0.256000	0.11100	CAC		PASS	0.413	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		35	45	35	45	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46290251	46290251	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:46290251G>T	ENST00000361297.2	+	2	607	c.324G>T	c.(322-324)tcG>tcT	p.S108S	MAST2_ENST00000372009.2_Splice_Site_p.S108S	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.S108S(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTCTCTATCGGGTAAATATC	0.373																																						uc001cov.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(322-324)TCG>TCT		microtubule associated serine/threonine kinase							130.0	116.0	121.0					1																	46290251		1851	4090	5941	SO:0001630	splice_region_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46290251G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.325+1G>T	1.37:g.46290251G>T						MAST2_uc001cow.2_Silent_p.S108S	p.S108S	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			2	607	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		108						Silent	SNP	ENST00000361297.2	37	c.324G>T	CCDS41326.1																																																																																				PASS	0.373	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112	Silent	4	97	4	97	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46497954	46497954	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:46497954C>T	ENST00000361297.2	+	25	3575	c.3292C>T	c.(3292-3294)Ctt>Ttt	p.L1098F	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L1098F(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTGCCAGCCCTTGGCAGCAT	0.597																																						uc001cov.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(3292-3294)CTT>TTT		microtubule associated serine/threonine kinase							77.0	84.0	82.0					1																	46497954		2125	4251	6376	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497954C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3292C>T	1.37:g.46497954C>T	ENSP00000354671:p.Leu1098Phe					MAST2_uc001cow.2_Missense_Mutation_p.L1098F|MAST2_uc001cpa.2_Intron	p.L1098F	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			25	3575	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1098						Missense_Mutation	SNP	ENST00000361297.2	37	c.3292C>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140630	0.37825	.	.	ENSG00000086015	ENST00000361297	T	0.64260	-0.09	4.83	2.82	0.32997	PDZ/DHR/GLGF (1);	0.399851	0.27227	N	0.020328	T	0.46386	0.1390	L	0.40543	1.245	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.50499	-0.8821	10	0.72032	D	0.01	-9.1162	3.0833	0.06270	0.3121:0.47:0.1266:0.0914	.	1098	Q6P0Q8	MAST2_HUMAN	F	1098	ENSP00000354671:L1098F	ENSP00000354671:L1098F	L	+	1	0	MAST2	46270541	0.842000	0.29525	0.999000	0.59377	0.862000	0.49288	1.046000	0.30354	1.395000	0.46643	0.561000	0.74099	CTT		PASS	0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		21	35	21	35	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46746910	46746910	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:46746910G>A	ENST00000343304.6	-	5	1928	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	548					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.P548L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CCGTAGCAGGGGCAGTGCTCG	0.612																																						uc001cpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(1642-1644)CCC>CTC		MUF1 protein							80.0	65.0	70.0					1																	46746910		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746910G>A	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1643C>T	1.37:g.46746910G>A	ENSP00000343298:p.Pro548Leu					LRRC41_uc010omb.1_Missense_Mutation_p.P548L	p.P548L	NM_006369	NP_006360	Q15345	LRC41_HUMAN			5	1687	-	Acute lymphoblastic leukemia(166;0.155)		548			LRR 3.		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1643C>T	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856843	0.91433	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.75367	-0.93	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.80691	0.4671	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81590	-0.0863	10	0.56958	D	0.05	-16.4931	19.951	0.97199	0.0:0.0:1.0:0.0	.	548;548	Q15345-3;Q15345	.;LRC41_HUMAN	L	548;526	ENSP00000343298:P548L	ENSP00000343298:P548L	P	-	2	0	LRRC41	46519497	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.451000	0.73481	2.723000	0.93209	0.650000	0.86243	CCC		PASS	0.612	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	18	7	18	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47504382	47504382	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:47504382G>A	ENST00000371901.3	+	7	1076	c.826G>A	c.(826-828)Gat>Aat	p.D276N	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.D275N	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	276						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D276N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGTAAAGCAGGATAACACTCC	0.393																																						uc001cqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(826-828)GAT>AAT		cytochrome P450, family 4, subfamily X,							100.0	92.0	95.0					1																	47504382		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47504382G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.826G>A	1.37:g.47504382G>A	ENSP00000360968:p.Asp276Asn					CYP4X1_uc001cqr.2_Missense_Mutation_p.D275N|CYP4X1_uc001cqs.2_Missense_Mutation_p.D211N	p.D276N	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			7	1076	+			276					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.826G>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404793	0.25378	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.80214	-1.35;-0.4	6.03	3.01	0.34805	.	1.637160	0.02842	N	0.128091	T	0.77329	0.4114	L	0.38953	1.18	0.09310	N	1	B;B	0.29270	0.24;0.203	B;B	0.33846	0.171;0.039	T	0.62918	-0.6752	10	0.72032	D	0.01	.	8.5528	0.33462	0.1379:0.0:0.7391:0.1231	.	276;275	Q8N118;G3V1U1	CP4X1_HUMAN;.	N	275;276	ENSP00000445965:D275N;ENSP00000360968:D276N	ENSP00000360968:D276N	D	+	1	0	CYP4X1	47276969	0.791000	0.28800	0.000000	0.03702	0.105000	0.19272	2.320000	0.43797	0.362000	0.24319	-0.150000	0.13652	GAT		PASS	0.393	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		25	40	25	40	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48703480	48703480	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:48703480C>T	ENST00000438567.2	+	11	1474	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SLC5A9_ENST00000533824.1_Silent_p.L495L|SLC5A9_ENST00000236495.5_Silent_p.L499L	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	474					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L492L(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCACCGCTCTCTTCCTGCTGG	0.572																																						uc001cro.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1420-1422)CTC>CTT		solute carrier family 5 (sodium/glucose							111.0	93.0	99.0					1																	48703480		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48703480C>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1422C>T	1.37:g.48703480C>T						SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L499L|SLC5A9_uc010omt.1_Silent_p.L488L|SLC5A9_uc001crp.2_Silent_p.L141L|SLC5A9_uc010omu.1_Silent_p.L141L|SLC5A9_uc009vyt.1_5'Flank	p.L474L	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			11	1474	+			474			Helical; (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1422C>T	CCDS30709.2																																																																																				PASS	0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		15	19	15	19	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48713068	48713068	+	Silent	SNP	G	G	A	rs534802007	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:48713068G>A	ENST00000438567.2	+	14	1951	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	SLC5A9_ENST00000533824.1_Silent_p.P654P|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_Silent_p.P658P	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	633					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P651P(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGAACACCGGAGCAGGCCC	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17807	0.0		0.0	False		,,,				2504	0.0					uc001cro.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1897-1899)CCG>CCA		solute carrier family 5 (sodium/glucose							56.0	55.0	55.0					1																	48713068		2203	4300	6503	SO:0001819	synonymous_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48713068G>A	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1899G>A	1.37:g.48713068G>A						SLC5A9_uc001crn.2_Silent_p.P658P|SLC5A9_uc010omt.1_Silent_p.P647P|SLC5A9_uc001crp.2_Silent_p.P300P|SLC5A9_uc010omu.1_Silent_p.P300P|SLC5A9_uc009vyt.1_RNA	p.P633P	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN			14	1951	+			633			Cytoplasmic (Potential).		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Silent	SNP	ENST00000438567.2	37	c.1899G>A	CCDS30709.2																																																																																				PASS	0.577	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		12	9	12	9	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52769498	52769498	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:52769498C>T	ENST00000371591.1	+	12	3470	c.3339C>T	c.(3337-3339)ttC>ttT	p.F1113F	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Silent_p.F1054F|ZFYVE9_ENST00000287727.3_Silent_p.F1113F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1113					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.F1113F(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCCAGGACTTCAGAAATTACC	0.353																																						uc001cto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(3337-3339)TTC>TTT		zinc finger, FYVE domain containing 9 isoform 3							120.0	122.0	122.0					1																	52769498		2203	4300	6503	SO:0001819	synonymous_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52769498C>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3339C>T	1.37:g.52769498C>T						ZFYVE9_uc001ctp.2_Silent_p.F1054F	p.F1113F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			13	3511	+			1113					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	ENST00000371591.1	37	c.3339C>T	CCDS563.1																																																																																				PASS	0.353	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		18	40	18	40	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53544160	53544160	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:53544160G>A	ENST00000312553.5	+	8	1129	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	PODN_ENST00000371500.3_Silent_p.A355A|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.A232A	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	326					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.A374A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGGACGCGAATGTGCTGA	0.652																																						uc001cuv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1120-1122)GCG>GCA		podocan							57.0	56.0	56.0					1																	53544160		2203	4300	6503	SO:0001819	synonymous_variant	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544160G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1122G>A	1.37:g.53544160G>A						PODN_uc001cuw.2_Silent_p.A355A|PODN_uc010onr.1_Silent_p.A355A|PODN_uc010ons.1_Silent_p.A232A	p.A374A	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			8	1129	+			326			LRR 10.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	c.1122G>A	CCDS573.1																																																																																				PASS	0.652	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		4	23	4	23	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53547779	53547779	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:53547779G>A	ENST00000312553.5	+	10	1939	c.1932G>A	c.(1930-1932)ggG>ggA	p.G644G	PODN_ENST00000371500.3_Silent_p.G625G|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.G502G	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	596					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.G644G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCGCTTggggaaggaaaagg	0.537																																						uc001cuv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1930-1932)GGG>GGA		podocan							57.0	58.0	58.0					1																	53547779		2203	4300	6503	SO:0001819	synonymous_variant	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53547779G>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1932G>A	1.37:g.53547779G>A						PODN_uc001cuw.2_Silent_p.G625G|PODN_uc010onr.1_Silent_p.G625G|PODN_uc010ons.1_Silent_p.G502G	p.G644G	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			10	1939	+			596					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	c.1932G>A	CCDS573.1																																																																																				PASS	0.537	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		6	12	6	12	---	---	---	---
TCEANC2	127428	broad.mit.edu	37	1	54534537	54534537	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:54534537C>T	ENST00000234827.1	+	3	411	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	TCEANC2_ENST00000498272.1_Intron|TCEANC2_ENST00000371331.1_Missense_Mutation_p.P101S	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	71	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P71S(1)		kidney(1)|lung(3)|pancreas(1)	5						GAAGAAAATACCCTCCAGGGA	0.333																																						uc001cwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)CCC>TCC		hypothetical protein LOC127428							42.0	44.0	43.0					1																	54534537		2203	4299	6502	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54534537C>T	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.211C>T	1.37:g.54534537C>T	ENSP00000234827:p.Pro71Ser					C1orf83_uc001cwu.1_Intron	p.P71S	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN			3	411	+			71			TFIIS N-terminal.		Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.211C>T	CCDS587.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568486	0.86439	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	.	.	.	5.79	5.79	0.91817	Transcription factor IIS, N-terminal (4);	0.095941	0.64402	D	0.000001	D	0.85544	0.5721	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86282	0.1668	9	0.52906	T	0.07	-3.3914	20.0081	0.97439	0.0:1.0:0.0:0.0	.	71	Q96MN5	TEAN2_HUMAN	S	71;101	.	ENSP00000234827:P71S	P	+	1	0	TCEANC2	54307125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.404000	0.79996	2.738000	0.93877	0.655000	0.94253	CCC		PASS	0.333	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1	NM_153035		4	29	4	29	---	---	---	---
MRPL37	51253	broad.mit.edu	37	1	54670798	54670798	+	Missense_Mutation	SNP	G	G	A	rs112294124		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:54670798G>A	ENST00000360840.5	+	2	531	c.454G>A	c.(454-456)Gag>Aag	p.E152K	MRPL37_ENST00000605337.1_Missense_Mutation_p.E152K|MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000487096.1_3'UTR	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	152					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E152K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAACCAAGACGAGTGCGTTCT	0.507																																						uc001cxa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GAG>AAG		mitochondrial ribosomal protein L37 precursor							108.0	101.0	103.0					1																	54670798		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54670798G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.454G>A	1.37:g.54670798G>A	ENSP00000354086:p.Glu152Lys					MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Missense_Mutation_p.E152K|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA	p.E152K	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN			2	531	+			152					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.454G>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152118	0.38021	.	.	ENSG00000116221	ENST00000360840;ENST00000329505	T	0.15952	2.38	5.12	2.17	0.27698	.	0.197586	0.52532	N	0.000070	T	0.17916	0.0430	M	0.70275	2.135	0.80722	D	1	P;B	0.46656	0.882;0.252	B;B	0.41723	0.365;0.049	T	0.04333	-1.0959	10	0.27785	T	0.31	-6.4195	7.8594	0.29501	0.1504:0.1377:0.7119:0.0	.	89;152	E9PB99;Q9BZE1	.;RM37_HUMAN	K	152;89	ENSP00000354086:E152K	ENSP00000328799:E89K	E	+	1	0	MRPL37	54443386	1.000000	0.71417	0.228000	0.23943	0.271000	0.26615	6.387000	0.73191	0.171000	0.19730	-0.150000	0.13652	GAG		PASS	0.507	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		30	39	30	39	---	---	---	---
MROH7	374977	broad.mit.edu	37	1	55145664	55145664	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:55145664C>T	ENST00000421030.2	+	13	2612	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S776F|MROH7_ENST00000339553.5_Missense_Mutation_p.S776F|MROH7_ENST00000454855.2_Missense_Mutation_p.S294F|MROH7_ENST00000409996.1_Missense_Mutation_p.S344F|MROH7_ENST00000545244.1_Missense_Mutation_p.S344F|MROH7_ENST00000395690.2_Missense_Mutation_p.S776F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	776						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S776F(2)									CTGGCTAGCTCCTTCATGACC	0.602																																						uc010ooe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2326-2328)TCC>TTC		hypothetical protein LOC374977							109.0	121.0	117.0					1																	55145664		2051	4186	6237	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55145664C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2327C>T	1.37:g.55145664C>T	ENSP00000396622:p.Ser776Phe					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.S344F|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.S294F|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.S776F|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	p.S776F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			13	2651	+			776			Helical; (Potential).		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2327C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.403998	0.62288	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	3.75	3.75	0.43078	.	0.494456	0.15725	N	0.247718	T	0.65176	0.2666	M	0.62723	1.935	0.33180	D	0.549476	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.76575	0.988;0.955;0.928	T	0.67035	-0.5772	10	0.20519	T	0.43	-14.0756	10.9376	0.47253	0.0:1.0:0.0:0.0	.	776;776;344	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	F	776;344;805;776;344;294;776	ENSP00000396622:S776F;ENSP00000442333:S344F;ENSP00000343211:S776F;ENSP00000387048:S344F;ENSP00000401130:S294F;ENSP00000379044:S776F	ENSP00000343211:S776F	S	+	2	0	HEATR8	54918252	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.216000	0.42871	1.927000	0.55829	0.455000	0.32223	TCC		PASS	0.602	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		15	77	15	77	---	---	---	---
PPAP2B	8613	broad.mit.edu	37	1	56962296	56962296	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:56962296G>A	ENST00000371250.3	-	6	1414	c.863C>T	c.(862-864)gCc>gTc	p.A288V	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	288					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.A288V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GATAGCAGGGGCAGGCAGGGA	0.493																																						uc001cyj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)GCC>GTC		phosphatidic acid phosphatase type 2B							127.0	115.0	119.0					1																	56962296		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56962296G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.863C>T	1.37:g.56962296G>A	ENSP00000360296:p.Ala288Val						p.A288V	NM_177414	NP_803133	O14495	LPP3_HUMAN			7	1364	-			288			Cytoplasmic (Potential).		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.863C>T	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	2.211	-0.380725	0.05000	.	.	ENSG00000162407	ENST00000371250	T	0.30714	1.52	4.71	3.78	0.43462	.	0.944519	0.08944	N	0.871158	T	0.22126	0.0533	N	0.14661	0.345	0.35264	D	0.779848	B	0.06786	0.001	B	0.06405	0.002	T	0.10989	-1.0606	10	0.33940	T	0.23	.	14.4129	0.67128	0.0:0.1484:0.8516:0.0	.	288	O14495	LPP3_HUMAN	V	288	ENSP00000360296:A288V	ENSP00000360296:A288V	A	-	2	0	PPAP2B	56734884	1.000000	0.71417	0.291000	0.24904	0.029000	0.11900	6.695000	0.74593	1.348000	0.45733	0.655000	0.94253	GCC		PASS	0.493	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		15	25	15	25	---	---	---	---
C1orf87	127795	broad.mit.edu	37	1	60499186	60499186	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:60499186C>T	ENST00000371201.3	-	7	1098	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	331							calcium ion binding (GO:0005509)	p.E331K(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGCGATCTTCTTTTCGAAAA	0.443																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(991-993)GAA>AAA		hypothetical protein LOC127795							207.0	189.0	195.0					1																	60499186		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60499186C>T	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.991G>A	1.37:g.60499186C>T	ENSP00000360244:p.Glu331Lys						p.E331K	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			7	1083	-			331					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.991G>A	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468780	0.84533	.	.	ENSG00000162598	ENST00000371201	T	0.41758	0.99	5.11	5.11	0.69529	EF-hand-like domain (1);	0.000000	0.56097	D	0.000027	T	0.58892	0.2154	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51482	-0.8700	10	0.22706	T	0.39	-22.72	13.896	0.63773	0.0:1.0:0.0:0.0	.	331	Q8N0U7	CA087_HUMAN	K	331	ENSP00000360244:E331K	ENSP00000360244:E331K	E	-	1	0	C1orf87	60271774	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.775000	0.55349	2.665000	0.90641	0.655000	0.94253	GAA		PASS	0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		18	41	18	41	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62545165	62545165	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:62545165C>T	ENST00000371158.2	+	32	4283	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F	MIR3116-1_ENST00000584654.1_RNA|INADL_ENST00000543708.1_Missense_Mutation_p.S174F|INADL_ENST00000545929.1_Missense_Mutation_p.S63F|INADL_ENST00000316485.6_Missense_Mutation_p.S1390F	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1390					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.S1390F(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACAAAAGTCTCCTTCAGTTCA	0.373																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4168-4170)TCC>TTC		InaD-like							154.0	145.0	148.0					1																	62545165		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62545165C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4169C>T	1.37:g.62545165C>T	ENSP00000360200:p.Ser1390Phe					INADL_uc009waf.1_Missense_Mutation_p.S1390F|INADL_uc001daa.2_Missense_Mutation_p.S1390F|INADL_uc001dad.3_Missense_Mutation_p.S1087F|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.S174F|INADL_uc009wag.2_Missense_Mutation_p.S174F|INADL_uc010oou.1_Missense_Mutation_p.S63F|hsa-mir-3116-2|MI0014129_5'Flank	p.S1390F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			32	4283	+			1390					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4169C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091023	0.55968	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708;ENST00000545929	T;T;T;T;T	0.37915	2.67;2.4;3.15;2.1;1.17	5.4	3.48	0.39840	.	0.166361	0.37136	N	0.002224	T	0.37865	0.1019	L	0.44542	1.39	0.09310	N	1	P;P;P;P;P;P	0.44195	0.731;0.74;0.755;0.797;0.529;0.828	B;P;B;P;P;P	0.50136	0.323;0.62;0.295;0.526;0.498;0.632	T	0.16988	-1.0384	10	0.87932	D	0	.	7.8294	0.29334	0.0:0.7477:0.165:0.0873	.	63;174;849;1390;1390;1390	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	F	1390;1390;1390;1390;174;174;63	ENSP00000360200:S1390F;ENSP00000326199:S1390F;ENSP00000307496:S174F;ENSP00000445790:S174F;ENSP00000440094:S63F	ENSP00000307496:S174F	S	+	2	0	INADL	62317753	0.000000	0.05858	0.296000	0.24974	0.450000	0.32258	0.899000	0.28417	1.247000	0.43917	0.655000	0.94253	TCC		PASS	0.373	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		39	51	39	51	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62550229	62550229	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:62550229C>T	ENST00000371158.2	+	33	4400	c.4286C>T	c.(4285-4287)cCc>cTc	p.P1429L	INADL_ENST00000543708.1_Missense_Mutation_p.P213L|INADL_ENST00000545929.1_Missense_Mutation_p.P102L|INADL_ENST00000316485.6_Missense_Mutation_p.P1429L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1429					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.P1429L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCAACGTGTCCCATTGTCCCT	0.507																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4285-4287)CCC>CTC		InaD-like							95.0	89.0	91.0					1																	62550229		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62550229C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4286C>T	1.37:g.62550229C>T	ENSP00000360200:p.Pro1429Leu					INADL_uc009waf.1_Missense_Mutation_p.P1429L|INADL_uc001daa.2_Missense_Mutation_p.P1429L|INADL_uc001dad.3_Missense_Mutation_p.P1126L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P213L|INADL_uc009wag.2_Missense_Mutation_p.P213L|INADL_uc010oou.1_Missense_Mutation_p.P102L	p.P1429L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			33	4400	+			1429					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4286C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072458	0.76415	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000543708;ENST00000545929	T;T;T;T	0.32515	2.26;1.86;1.45;2.26	5.02	5.02	0.67125	PDZ/DHR/GLGF (1);	0.086790	0.47455	D	0.000230	T	0.59293	0.2183	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;1.0;0.998;0.999	D;P;D;D;D;D	0.85130	0.943;0.855;0.991;0.997;0.97;0.991	T	0.64647	-0.6358	10	0.87932	D	0	.	18.6965	0.91603	0.0:1.0:0.0:0.0	.	102;213;888;1429;1429;1429	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	L	1429;1429;1429;1429;213;102	ENSP00000360200:P1429L;ENSP00000326199:P1429L;ENSP00000445790:P213L;ENSP00000440094:P102L	ENSP00000326199:P1429L	P	+	2	0	INADL	62322817	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	6.409000	0.73289	2.477000	0.83638	0.655000	0.94253	CCC		PASS	0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		21	20	21	20	---	---	---	---
KANK4	163782	broad.mit.edu	37	1	62747221	62747221	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:62747221C>T	ENST00000371153.4	-	2	394	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	KANK4_ENST00000354381.3_Splice_Site_p.E6K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	6						cytoplasm (GO:0005737)		p.A6T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTTGCCTACCATCTGTCTTC	0.478																																						uc001dah.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(16-18)GCC>ACC		ankyrin repeat domain 38							243.0	229.0	234.0					1																	62747221		2203	4300	6503	SO:0001630	splice_region_variant	163782							g.chr1:62747221C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.16+1G>A	1.37:g.62747221C>T						KANK4_uc001dai.3_Missense_Mutation_p.E6K	p.A6T	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			2	393	-			6					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.16G>A	CCDS620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.56|13.56	2.273249|2.273249	0.40194|0.40194	.|.	.|.	ENSG00000132854|ENSG00000132854	ENST00000371153|ENST00000354381	T|T	0.60299|0.51325	0.2|0.71	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	0.496866|.	0.15052|.	N|.	0.283230|.	T|T	0.42494|0.42494	0.1205|0.1205	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|B	0.58268|0.09022	0.982|0.002	P|B	0.52031|0.14578	0.688|0.011	T|T	0.29761|0.29761	-1.0001|-1.0001	9|8	.|.	.|.	.|.	.|.	13.2815|13.2815	0.60216|0.60216	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6|6	Q5T7N3|Q5T7N3-2	KANK4_HUMAN|.	T|K	6|6	ENSP00000360195:A6T|ENSP00000346352:E6K	.|.	A|E	-|-	1|1	0|0	KANK4|KANK4	62519809|62519809	0.989000|0.989000	0.36119|0.36119	0.997000|0.997000	0.53966|0.53966	0.526000|0.526000	0.34562|0.34562	3.650000|3.650000	0.54424|0.54424	2.222000|2.222000	0.72286|0.72286	0.563000|0.563000	0.77884|0.77884	GCC|GAG		PASS	0.478	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	Missense_Mutation	63	80	63	80	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	62943401	62943401	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:62943401G>A	ENST00000340370.5	-	43	5528	c.5511C>T	c.(5509-5511)acC>acT	p.T1837T	DOCK7_ENST00000251157.5_Silent_p.T1857T|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1868	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.T1837T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGCAAGTTTGGTTATTGCAG	0.388																																						uc001daq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(5569-5571)ACC>ACT		dedicator of cytokinesis 7							142.0	138.0	139.0					1																	62943401		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62943401G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5511C>T	1.37:g.62943401G>A						DOCK7_uc001dan.2_Silent_p.T1720T|DOCK7_uc001dao.2_Silent_p.T1718T|DOCK7_uc001dap.2_Silent_p.T1837T|DOCK7_uc001dam.2_Silent_p.T1039T|DOCK7_uc010oov.1_Silent_p.T598T|DOCK7_uc001dar.1_Silent_p.T31T	p.T1857T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			43	5605	-			1868			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.5571C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	8.760	0.923339	0.18056	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.11	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1594	0.20356	0.1514:0.0:0.6308:0.2177	.	.	.	.	X	1031	.	.	Q	-	1	0	DOCK7	62715989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.503000	0.22610	1.275000	0.44379	0.585000	0.79938	CAA		PASS	0.388	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		36	64	36	64	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63113907	63113907	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:63113907G>A	ENST00000340370.5	-	6	619	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_ENST00000251157.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	201					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.S201L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCAGGAAGTGAATTTTTCAA	0.393																																						uc001daq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(601-603)TCA>TTA		dedicator of cytokinesis 7							86.0	88.0	87.0					1																	63113907		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113907G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.602C>T	1.37:g.63113907G>A	ENSP00000340742:p.Ser201Leu					DOCK7_uc001dan.2_Missense_Mutation_p.S93L|DOCK7_uc001dao.2_Missense_Mutation_p.S93L|DOCK7_uc001dap.2_Missense_Mutation_p.S201L|DOCK7_uc009wah.1_Missense_Mutation_p.S201L	p.S201L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			6	636	-			201					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.602C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915079	0.52546	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.18016	2.24;2.24;2.24	4.88	4.88	0.63580	.	0.119530	0.64402	D	0.000015	T	0.09113	0.0225	L	0.33624	1.015	0.80722	D	1	B;B;B;B;B	0.33022	0.394;0.05;0.009;0.004;0.002	B;B;B;B;B	0.34180	0.177;0.075;0.026;0.026;0.003	T	0.10706	-1.0618	10	0.39692	T	0.17	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	201;201;201;201;201	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	L	201	ENSP00000251157:S201L;ENSP00000340742:S201L;ENSP00000384446:S201L	ENSP00000251157:S201L	S	-	2	0	DOCK7	62886495	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.601000	0.98297	2.517000	0.84864	0.563000	0.77884	TCA		PASS	0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		23	40	23	40	---	---	---	---
ITGB3BP	23421	broad.mit.edu	37	1	63920139	63920139	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:63920139C>T	ENST00000271002.10	-	6	420	c.339G>A	c.(337-339)ttG>ttA	p.L113L	ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000283568.8_Silent_p.L113L|ITGB3BP_ENST00000371092.3_Silent_p.L152L	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	113					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.L113L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TACTGCCCTCCAAAGCCTACA	0.343																																						uc001dba.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)TTG>TTA		integrin beta 3 binding protein							89.0	87.0	87.0					1																	63920139		2203	4298	6501	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63920139C>T	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.339G>A	1.37:g.63920139C>T						ITGB3BP_uc001dbb.1_Silent_p.L152L|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.L135L|ITGB3BP_uc001dbe.1_Silent_p.L26L	p.L113L	NM_014288	NP_055103	Q13352	CENPR_HUMAN			6	370	-			113			Potential.		B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.339G>A	CCDS30736.1																																																																																				PASS	0.343	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		15	21	15	21	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65131840	65131840	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:65131840C>T	ENST00000371073.2	+	16	2377	c.2377C>T	c.(2377-2379)Cat>Tat	p.H793Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.H742Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	793	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.H742Y(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCACACAATTCATTCATCCAG	0.363																																						uc001dbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2224-2226)CAT>TAT		cache domain containing 1							132.0	122.0	125.0					1																	65131840		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65131840C>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2377C>T	1.37:g.65131840C>T	ENSP00000360113:p.His793Tyr					CACHD1_uc001dbp.1_Missense_Mutation_p.H497Y|CACHD1_uc001dbq.1_Missense_Mutation_p.H497Y|CACHD1_uc010opa.1_5'UTR	p.H742Y	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			16	2329	+			793			Extracellular (Potential).|Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2224C>T		.	.	.	.	.	.	.	.	.	.	C	6.800	0.516553	0.12944	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.20598	2.06;2.07	5.61	4.69	0.59074	Cache (1);	0.044582	0.85682	N	0.000000	T	0.02848	0.0085	N	0.02539	-0.55	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31888	-0.9927	10	0.09338	T	0.73	-17.5705	14.5674	0.68188	0.0:0.9297:0.0:0.0703	.	793	Q5VU97	CAHD1_HUMAN	Y	793;742	ENSP00000360113:H793Y;ENSP00000290039:H742Y	ENSP00000290039:H742Y	H	+	1	0	CACHD1	64904428	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	7.389000	0.79806	1.509000	0.48786	0.655000	0.94253	CAT		PASS	0.363	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		12	25	12	25	---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65310570	65310570	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:65310570C>T	ENST00000342505.4	-	16	2366	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	706	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.E706E(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGTCTTTATCCTCCTGCAGAG	0.517			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61						c.(2116-2118)GAG>GAA		janus kinase 1							82.0	90.0	87.0					1																	65310570		1982	4148	6130	SO:0001819	synonymous_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310570C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2118G>A	1.37:g.65310570C>T						JAK1_uc009wam.1_Silent_p.E694E|JAK1_uc009wal.1_5'UTR	p.E706E	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2367	-			706			Protein kinase 1.		Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	c.2118G>A	CCDS41346.1																																																																																				PASS	0.517	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		5	36	5	36	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67292639	67292639	+	Nonsense_Mutation	SNP	C	C	A	rs145334513		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:67292639C>A	ENST00000371026.3	-	15	2258	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.E448*|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	735					hematopoietic progenitor cell differentiation (GO:0002244)			p.E735*(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTGACATTCTCCTGTTGCCAT	0.378																																						uc001dcx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2203-2205)GAG>TAG		WD repeat domain 78 isoform 1							136.0	139.0	138.0					1																	67292639		2203	4300	6503	SO:0001587	stop_gained	79819							g.chr1:67292639C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2203G>T	1.37:g.67292639C>A	ENSP00000360065:p.Glu735*					WDR78_uc009waw.2_Nonsense_Mutation_p.E448*|WDR78_uc009wax.2_RNA	p.E735*	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			15	2259	-			735			WD 4.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.2203G>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	45	11.983848	0.99624	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	.	.	.	5.16	4.25	0.50352	.	0.725251	0.14012	N	0.347423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-1.7071	11.6524	0.51297	0.0:0.851:0.0:0.149	.	.	.	.	X	735;448;468	.	ENSP00000360065:E735X	E	-	1	0	WDR78	67065227	1.000000	0.71417	0.962000	0.40283	0.627000	0.37826	1.342000	0.33919	1.171000	0.42768	0.555000	0.69702	GAG		PASS	0.378	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		27	85	27	85	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67792445	67792445	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:67792445C>T	ENST00000262345.1	+	4	1032	c.392C>T	c.(391-393)tCc>tTc	p.S131F	IL12RB2_ENST00000541374.1_Missense_Mutation_p.S131F|IL12RB2_ENST00000371000.1_Missense_Mutation_p.S131F|IL12RB2_ENST00000544434.1_Missense_Mutation_p.S131F	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	131	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.S131F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAAATTTATCCTGCATACAG	0.428																																						uc001ddu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(391-393)TCC>TTC		interleukin 12 receptor, beta 2 precursor							87.0	86.0	86.0					1																	67792445		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67792445C>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.392C>T	1.37:g.67792445C>T	ENSP00000262345:p.Ser131Phe					IL12RB2_uc010oqi.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqj.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqm.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqn.1_RNA	p.S131F	NM_001559	NP_001550	Q99665	I12R2_HUMAN			4	1032	+			131			Extracellular (Potential).|Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.392C>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434088	0.25813	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.89	5.89	0.94794	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.323797	0.38548	N	0.001649	T	0.11793	0.0287	M	0.85197	2.74	0.28128	N	0.930333	B;P;B;B	0.50272	0.309;0.933;0.435;0.203	B;B;B;B	0.41571	0.167;0.36;0.103;0.148	T	0.07731	-1.0757	10	0.87932	D	0	-15.3746	15.7563	0.78030	0.0:1.0:0.0:0.0	.	131;131;131;131	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	F	131	ENSP00000262345:S131F;ENSP00000360039:S131F;ENSP00000445276:S131F;ENSP00000442443:S131F	ENSP00000262345:S131F	S	+	2	0	IL12RB2	67565033	0.987000	0.35691	0.037000	0.18230	0.144000	0.21451	3.994000	0.56994	2.797000	0.96272	0.563000	0.77884	TCC		PASS	0.428	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		5	9	5	9	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67833507	67833507	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:67833507G>A	ENST00000262345.1	+	10	1898		c.e10-1		IL12RB2_ENST00000541374.1_Splice_Site|IL12RB2_ENST00000371000.1_Splice_Site|IL12RB2_ENST00000544434.1_Splice_Site	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GTCCGATAAAGGGTTGCTGGC	0.443																																						uc001ddu.2																			2	Unknown(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.e10-1		interleukin 12 receptor, beta 2 precursor							91.0	94.0	93.0					1																	67833507		2203	4300	6503	SO:0001630	splice_region_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67833507G>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1259-1G>A	1.37:g.67833507G>A						IL12RB2_uc010oqi.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqj.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqm.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqn.1_Splice_Site	p.G420_splice	NM_001559	NP_001550	Q99665	I12R2_HUMAN			10	1899	+								B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Splice_Site	SNP	ENST00000262345.1	37	c.1259_splice	CCDS638.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932828	0.34096	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0548	0.71904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12RB2	67606095	0.983000	0.35010	0.076000	0.20297	0.029000	0.11900	4.682000	0.61671	2.607000	0.88179	0.655000	0.94253	.		PASS	0.443	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	Intron	24	75	24	75	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70505069	70505069	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:70505069G>A	ENST00000035383.5	+	19	3478	c.3448G>A	c.(3448-3450)Gga>Aga	p.G1150R	LRRC7_ENST00000310961.5_Missense_Mutation_p.G1155R|LRRC7_ENST00000415775.2_Missense_Mutation_p.G434R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1150						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.G1150R(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCATATAGGGGAGGGCTGGA	0.522																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3448-3450)GGA>AGA		leucine rich repeat containing 7							63.0	66.0	65.0					1																	70505069		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505069G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3448G>A	1.37:g.70505069G>A	ENSP00000035383:p.Gly1150Arg					LRRC7_uc009wbg.2_Missense_Mutation_p.G434R|LRRC7_uc001deq.2_Missense_Mutation_p.G391R	p.G1150R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3478	+			1150					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3448G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320676	0.41096	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37752	1.18;1.25;2.34	5.94	5.94	0.96194	.	0.179400	0.50627	D	0.000101	T	0.41328	0.1154	L	0.50333	1.59	0.45621	D	0.998558	P;P;P	0.48016	0.851;0.904;0.845	B;P;P	0.53006	0.441;0.715;0.523	T	0.17930	-1.0353	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	434;1150;1150	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	R	1155;1150;434;973	ENSP00000309245:G1155R;ENSP00000035383:G1150R;ENSP00000394867:G434R	ENSP00000035383:G1150R	G	+	1	0	LRRC7	70277657	1.000000	0.71417	0.985000	0.45067	0.003000	0.03518	8.393000	0.90182	2.820000	0.97059	0.650000	0.86243	GGA		PASS	0.522	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		18	29	18	29	---	---	---	---
NEGR1	257194	broad.mit.edu	37	1	72076747	72076747	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:72076747C>T	ENST00000357731.5	-	5	989	c.750G>A	c.(748-750)gtG>gtA	p.V250V	NEGR1_ENST00000306821.3_Silent_p.V122V|NEGR1_ENST00000434200.1_Silent_p.V204V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	250	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.V250V(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGGAGGCGGCACACCTGCAC	0.463																																						uc001dfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)GTG>GTA		neuronal growth regulator 1 precursor							108.0	108.0	108.0					1																	72076747		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72076747C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.750G>A	1.37:g.72076747C>T						NEGR1_uc001dfv.2_Silent_p.V122V|NEGR1_uc010oqs.1_Silent_p.V206V	p.V250V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	5	850	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	250			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.750G>A	CCDS661.1																																																																																				PASS	0.463	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		11	49	11	49	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74492584	74492584	+	Silent	SNP	G	G	A	rs371747342		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:74492584G>A	ENST00000395089.1	-	7	1787	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	LRRIQ3_ENST00000354431.4_Silent_p.A596A			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	596								p.A596A(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTCTTTCACAGGCTTTTTCAA	0.303																																						uc001dfy.3																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(2)	2						c.(1786-1788)GCC>GCT		leucine-rich repeats and IQ motif containing 3		G		1,3609		0,1,1804	101.0	91.0	94.0		1788	0.6	0.0	1		94	0,8120		0,0,4060	no	coding-synonymous	LRRIQ3	NM_001105659.1		0,1,5864	AA,AG,GG		0.0,0.0277,0.0085		596/625	74492584	1,11729	1805	4060	5865	SO:0001819	synonymous_variant	127255							g.chr1:74492584G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1788C>T	1.37:g.74492584G>A						LRRIQ3_uc001dfz.3_RNA	p.A596A	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			8	1980	-			596			Potential.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1788C>T	CCDS41350.1																																																																																				PASS	0.303	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	16	9	16	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670360	74670360	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:74670360C>T	ENST00000609362.1	+	4	666	c.629C>T	c.(628-630)cCt>cTt	p.P210L	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.P223L|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	210					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.P210L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GTCTTAGATCCTTTTGATGAT	0.373																																						uc001dgb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(628-630)CCT>CTT		fucose-1-phosphate guanyltransferase							96.0	95.0	95.0					1																	74670360		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670360C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.629C>T	1.37:g.74670360C>T	ENSP00000476680:p.Pro210Leu					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.P210L	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	666	+			210					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.629C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411226	0.42817	.	.	ENSG00000254685	ENST00000370898	T	0.29917	1.55	5.57	3.51	0.40186	L-fucokinase (1);	.	.	.	.	T	0.15522	0.0374	L	0.43152	1.355	0.80722	D	1	B	0.33883	0.43	B	0.34242	0.178	T	0.03493	-1.1031	8	.	.	.	.	14.5641	0.68162	0.2419:0.7581:0.0:0.0	.	210	O14772	FPGT_HUMAN	L	210	ENSP00000359935:P210L	.	P	+	2	0	TNNI3K	74442948	0.957000	0.32711	0.272000	0.24630	0.974000	0.67602	2.324000	0.43831	2.618000	0.88619	0.591000	0.81541	CCT		PASS	0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	43	11	43	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T	rs375773806		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	C1orf173_ENST00000420661.2_Silent_p.P213P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		410								p.P410P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1228-1230)CCG>CCA		hypothetical protein LOC127254		T		0,4406		0,0,2203	115.0	111.0	113.0		1230	0.4	0.0	1		113	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	C1orf173	NM_001002912.4		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		410/1531	75072544	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	127254							g.chr1:75072544C>T																												ENST00000326665.5:c.1230G>A	1.37:g.75072544C>T						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.P204P	p.P410P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1449	-			410					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1230G>A	CCDS30755.1																																																																																				PASS	0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			12	63	12	63	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76344772	76344772	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:76344772A>T	ENST00000263187.3	+	12	1740	c.1636A>T	c.(1636-1638)Ata>Tta	p.I546L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	546					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I546L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TACAGATTGTATAGCCCTACC	0.338								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1636-1638)ATA>TTA	MMR	mutS homolog 4							98.0	99.0	99.0					1																	76344772		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76344772A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1636A>T	1.37:g.76344772A>T	ENSP00000263187:p.Ile546Leu						p.I546L	NM_002440	NP_002431	O15457	MSH4_HUMAN			12	1677	+			546					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.1636A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.361677	0.01235	.	.	ENSG00000057468	ENST00000263187	D	0.91464	-2.85	5.73	-3.51	0.04696	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	1.095530	0.06692	N	0.769785	T	0.61274	0.2334	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53865	-0.8378	10	0.11182	T	0.66	-20.7034	6.2957	0.21085	0.3359:0.0:0.3761:0.288	.	546	O15457	MSH4_HUMAN	L	546	ENSP00000263187:I546L	ENSP00000263187:I546L	I	+	1	0	MSH4	76117360	0.001000	0.12720	0.101000	0.21167	0.012000	0.07955	0.036000	0.13819	-0.458000	0.07023	-2.086000	0.00376	ATA		PASS	0.338	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		14	29	14	29	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76365359	76365359	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:76365359G>A	ENST00000263187.3	+	19	2691	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	863					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.E863K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGATGCCAAGGAAATCACAAC	0.294								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2587-2589)GAA>AAA	MMR	mutS homolog 4							87.0	89.0	88.0					1																	76365359		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76365359G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2587G>A	1.37:g.76365359G>A	ENSP00000263187:p.Glu863Lys						p.E863K	NM_002440	NP_002431	O15457	MSH4_HUMAN			19	2628	+			863					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2587G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426209	0.43020	.	.	ENSG00000057468	ENST00000263187	D	0.85484	-1.99	5.61	5.61	0.85477	DNA mismatch repair protein MutS, C-terminal (2);	0.477248	0.23943	N	0.043038	T	0.71367	0.3331	L	0.33293	1	0.24539	N	0.99408	B	0.18968	0.032	B	0.24394	0.053	T	0.63216	-0.6687	10	0.44086	T	0.13	3.4318	17.8182	0.88642	0.0:0.0:1.0:0.0	.	863	O15457	MSH4_HUMAN	K	863	ENSP00000263187:E863K	ENSP00000263187:E863K	E	+	1	0	MSH4	76137947	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.793000	0.47845	2.643000	0.89663	0.467000	0.42956	GAA		PASS	0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		16	37	16	37	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76877855	76877855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:76877855C>T	ENST00000328299.3	+	3	524	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	126					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R126*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GACCATGATTCGAGTTGTGTC	0.433																																						uc001dhh.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	ovary(3)|skin(2)	5						c.(376-378)CGA>TGA		sialyltransferase 7C isoform 1							131.0	123.0	125.0					1																	76877855		2203	4300	6503	SO:0001587	stop_gained	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877855C>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.376C>T	1.37:g.76877855C>T	ENSP00000329214:p.Arg126*					ST6GALNAC3_uc001dhg.3_Nonsense_Mutation_p.R126*|ST6GALNAC3_uc010orh.1_Nonsense_Mutation_p.R61*	p.R126*	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	539	+			126			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Nonsense_Mutation	SNP	ENST00000328299.3	37	c.376C>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	37	6.613898	0.97705	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	.	.	.	6.17	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4154	14.4089	0.67101	0.2078:0.7922:0.0:0.0	.	.	.	.	X	126;126;125;60	.	ENSP00000329214:R126X	R	+	1	2	ST6GALNAC3	76650443	0.614000	0.27017	1.000000	0.80357	0.968000	0.65278	1.051000	0.30417	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.433	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		18	44	18	44	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76877969	76877969	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:76877969G>A	ENST00000328299.3	+	3	638	c.490G>A	c.(490-492)Gat>Aat	p.D164N	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	164					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.D164N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TATGAGGAAAGATGGCAATGG	0.393																																						uc001dhh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(490-492)GAT>AAT		sialyltransferase 7C isoform 1							123.0	123.0	123.0					1																	76877969		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877969G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.490G>A	1.37:g.76877969G>A	ENSP00000329214:p.Asp164Asn					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.D164N|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.D99N	p.D164N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			3	653	+			164			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.490G>A	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394030	0.96009	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	0.993;0.998;1.0	D;D;D	0.87578	0.958;0.978;0.998	T	0.30387	-0.9980	10	0.17369	T	0.5	-0.9832	19.8676	0.96824	0.0:0.0:1.0:0.0	.	99;164;164	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	N	164;164;163;98	ENSP00000329214:D164N	ENSP00000329214:D164N	D	+	1	0	ST6GALNAC3	76650557	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.393	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		20	61	20	61	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78184286	78184286	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:78184286G>A	ENST00000370793.1	-	17	2171	c.1825C>T	c.(1825-1827)Cct>Tct	p.P609S	USP33_ENST00000357428.1_Missense_Mutation_p.P609S|USP33_ENST00000370794.3_Missense_Mutation_p.P578S|USP33_ENST00000370792.3_Missense_Mutation_p.P601S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	609	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P609S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATACCTCAGGAAAGTTTTGT	0.284																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1825-1827)CCT>TCT		ubiquitin specific protease 33 isoform 1							47.0	53.0	51.0					1																	78184286		2203	4288	6491	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78184286G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1825C>T	1.37:g.78184286G>A	ENSP00000359829:p.Pro609Ser					USP33_uc001dhs.2_Missense_Mutation_p.P330S|USP33_uc001dhu.2_Missense_Mutation_p.P578S|USP33_uc001dhv.2_Missense_Mutation_p.P414S|USP33_uc001dhw.2_Missense_Mutation_p.P601S	p.P609S	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			17	2172	-			609					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1825C>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709674	0.89018	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.77	4.77	0.60923	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.051877	0.85682	D	0.000000	D	0.93893	0.8046	M	0.81179	2.53	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.99;0.986;0.992	D	0.94532	0.7737	10	0.72032	D	0.01	.	17.787	0.88541	0.0:0.0:1.0:0.0	.	601;578;609	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	S	578;609;609;601	ENSP00000359830:P578S;ENSP00000359829:P609S;ENSP00000350009:P609S;ENSP00000359828:P601S	ENSP00000350009:P609S	P	-	1	0	USP33	77956874	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.281000	0.95811	2.377000	0.81083	0.585000	0.79938	CCT		PASS	0.284	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		9	20	9	20	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79107150	79107150	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:79107150C>T	ENST00000370751.5	+	8	1359	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.P136S	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	394					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.P355S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTAGGCATTCCTATTTCCAA	0.353																																						uc010oro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)CCT>TCT		interferon-induced protein 44-like							78.0	76.0	77.0					1																	79107150		2202	4299	6501	SO:0001583	missense	10964					cytoplasm		g.chr1:79107150C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1180C>T	1.37:g.79107150C>T	ENSP00000359787:p.Pro394Ser					IFI44L_uc010orp.1_Missense_Mutation_p.P131S|IFI44L_uc010orq.1_Missense_Mutation_p.P131S	p.P394S	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			8	1359	+			394					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1180C>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340051	0.41398	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.39787	2.52;1.06	4.11	4.11	0.48088	.	0.000000	0.64402	D	0.000001	T	0.45577	0.1349	L	0.59912	1.85	0.42538	D	0.993063	D	0.65815	0.995	P	0.60236	0.871	T	0.35895	-0.9770	10	0.38643	T	0.18	-17.0018	14.141	0.65320	0.0:1.0:0.0:0.0	.	394	Q53G44	IF44L_HUMAN	S	394;136	ENSP00000359787:P394S;ENSP00000342833:P136S	ENSP00000342833:P136S	P	+	1	0	IFI44L	78879738	0.978000	0.34361	0.818000	0.32626	0.276000	0.26787	1.476000	0.35420	2.237000	0.73441	0.558000	0.71614	CCT		PASS	0.353	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		13	41	13	41	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79128453	79128453	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:79128453C>T	ENST00000370747.4	+	8	1263	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	393					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.S393F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGCAATTATTCCTCTGAGTGG	0.413																																						uc001dip.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1177-1179)TCC>TTC		interferon-induced, hepatitis C-associated							149.0	136.0	141.0					1																	79128453		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79128453C>T	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1178C>T	1.37:g.79128453C>T	ENSP00000359783:p.Ser393Phe						p.S393F	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			8	1302	+			393					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.1178C>T	CCDS688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.623|9.623	1.134434|1.134434	0.21123|0.21123	.|.	.|.	ENSG00000137965|ENSG00000137965	ENST00000446486|ENST00000370747	.|T	.|0.09723	.|2.95	3.79|3.79	-2.89|-2.89	0.05665|0.05665	.|.	.|1.107710	.|0.07056	.|N	.|0.832925	T|T	0.02888|0.02888	0.0086|0.0086	L|L	0.55990|0.55990	1.75|1.75	0.09310|0.09310	N|N	1|1	.|P	.|0.45902	.|0.868	.|B	.|0.39660	.|0.306	T|T	0.27434|0.27434	-1.0074|-1.0074	5|10	.|0.62326	.|D	.|0.03	.|.	0.4644|0.4644	0.00522|0.00522	0.3072:0.3103:0.1509:0.2315|0.3072:0.3103:0.1509:0.2315	.|.	.|393	.|Q8TCB0	.|IFI44_HUMAN	S|F	12|393	.|ENSP00000359783:S393F	.|ENSP00000359783:S393F	P|S	+|+	1|2	0|0	IFI44|IFI44	78901041|78901041	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.243000|0.243000	0.25628|0.25628	0.381000|0.381000	0.20619|0.20619	-0.562000|-0.562000	0.06086|0.06086	-0.346000|-0.346000	0.07831|0.07831	CCT|TCC		PASS	0.413	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		18	29	18	29	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79470895	79470895	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:79470895G>A	ENST00000370742.3	-	2	95	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	11					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S11F(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAACAAAGTGGAAAAAACCAC	0.323																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(31-33)TCC>TTC		EGF, latrophilin and seven transmembrane domain							55.0	48.0	50.0					1																	79470895		1803	4073	5876	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470895G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.32C>T	1.37:g.79470895G>A	ENSP00000359778:p.Ser11Phe						p.S11F	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	188	-			11					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.32C>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849811	0.71603	.	.	ENSG00000162618	ENST00000370742	T	0.37411	1.2	5.65	5.65	0.86999	.	0.639170	0.16150	N	0.227326	T	0.24547	0.0595	L	0.40543	1.245	0.49798	D	0.999827	P	0.43477	0.808	B	0.44278	0.445	T	0.01401	-1.1364	9	.	.	.	.	15.2285	0.73369	0.0:0.0:1.0:0.0	.	11	Q9HBW9	ELTD1_HUMAN	F	11	ENSP00000359778:S11F	.	S	-	2	0	ELTD1	79243483	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.183000	0.65065	2.668000	0.90789	0.591000	0.81541	TCC		PASS	0.323	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	10	12	10	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880230	84880230	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:84880230G>A	ENST00000370665.3	+	6	798	c.765G>A	c.(763-765)atG>atA	p.M255I	DNASE2B_ENST00000370662.3_Missense_Mutation_p.M47I	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	255					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.M255I(1)|p.M47I(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAGCCTGGATGGCTCAACGGC	0.418																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(763-765)ATG>ATA	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							71.0	73.0	73.0					1																	84880230		2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880230G>A	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.765G>A	1.37:g.84880230G>A	ENSP00000359699:p.Met255Ile					DNASE2B_uc001dju.1_Missense_Mutation_p.M47I|DNASE2B_uc009wch.1_Missense_Mutation_p.M47I	p.M255I	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	798	+			255					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.765G>A	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	4.466	0.086434	0.08583	.	.	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.10860	2.83;2.83	4.92	3.99	0.46301	.	0.175060	0.64402	N	0.000018	T	0.01353	0.0044	N	0.04880	-0.145	0.34565	D	0.712834	B	0.14438	0.01	B	0.12837	0.008	T	0.44065	-0.9352	10	0.08837	T	0.75	-9.2539	8.9574	0.35827	0.1707:0.0:0.8293:0.0	.	255	Q8WZ79	DNS2B_HUMAN	I	255;47	ENSP00000359699:M255I;ENSP00000359696:M47I	ENSP00000359696:M47I	M	+	3	0	DNASE2B	84652818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	1.262000	0.44165	0.650000	0.86243	ATG		PASS	0.418	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		7	30	7	30	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880305	84880305	+	Silent	SNP	C	C	T	rs200871122	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:84880305C>T	ENST00000370665.3	+	6	873	c.840C>T	c.(838-840)tcC>tcT	p.S280S	DNASE2B_ENST00000370662.3_Silent_p.S72S	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	280					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.S280S(1)|p.S72S(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAAACTGCTCCCTTCCTTACC	0.418																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(838-840)TCC>TCT	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							90.0	91.0	91.0					1																	84880305		2203	4300	6503	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880305C>T	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.840C>T	1.37:g.84880305C>T						DNASE2B_uc001dju.1_Silent_p.S72S|DNASE2B_uc009wch.1_Silent_p.S72S	p.S280S	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	873	+			280					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.840C>T	CCDS44167.1																																																																																				PASS	0.418	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		12	33	12	33	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85029067	85029067	+	Missense_Mutation	SNP	C	C	A	rs148118320		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:85029067C>A	ENST00000370630.5	-	6	878	c.830G>T	c.(829-831)cGg>cTg	p.R277L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	277					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.R277L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		AGGAGCCCCCCGGAAAGGGAC	0.388																																						uc001dka.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CGG>CTG		chitobiase, di-N-acetyl- precursor							45.0	50.0	49.0					1																	85029067		2202	4299	6501	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85029067C>A	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.830G>T	1.37:g.85029067C>A	ENSP00000359664:p.Arg277Leu					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.R186L|CTBS_uc001dkd.2_Missense_Mutation_p.R71L|CTBS_uc001dkb.2_Missense_Mutation_p.R71L	p.R277L	NM_004388	NP_004379	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	895	-			277					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.830G>T	CCDS698.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612667	0.28712	.	.	ENSG00000117151	ENST00000370630	T	0.05649	3.41	5.04	0.971	0.19698	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.249321	0.40302	N	0.001124	T	0.02230	0.0069	M	0.67397	2.05	0.39385	D	0.966311	B	0.20780	0.048	B	0.25506	0.061	T	0.37798	-0.9690	10	0.25106	T	0.35	-1.7064	3.0391	0.06132	0.1245:0.548:0.1207:0.2068	.	277	Q01459	DIAC_HUMAN	L	277	ENSP00000359664:R277L	ENSP00000359659:R186L	R	-	2	0	CTBS	84801655	0.977000	0.34250	0.010000	0.14722	0.972000	0.66771	1.544000	0.36158	-0.066000	0.12998	0.650000	0.86243	CGG		PASS	0.388	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		3	29	3	29	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85486956	85486956	+	Missense_Mutation	SNP	G	G	A	rs139077973		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:85486956G>A	ENST00000370589.2	-	12	1376	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R386C	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	442					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R442C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTCAGAGAACGAAACTGGAAA	0.368																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1324-1326)CGT>TGT		mucolipin 3							60.0	61.0	61.0					1																	85486956		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85486956G>A	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1324C>T	1.37:g.85486956G>A	ENSP00000359621:p.Arg442Cys					MCOLN3_uc001dko.2_Missense_Mutation_p.R61C|MCOLN3_uc001dkq.2_Missense_Mutation_p.R386C	p.R442C	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1417	-			442					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1324C>T	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339301	0.81911	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.71817	-0.6;-0.6	5.76	5.76	0.90799	Polycystin cation channel, PKD1/PKD2 (1);	0.103037	0.64402	D	0.000003	D	0.83617	0.5293	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.85809	0.1378	10	0.72032	D	0.01	-25.1971	14.7674	0.69648	0.0:0.0:0.8556:0.1444	.	386;442	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	C	442;442;386;386	ENSP00000359621:R442C;ENSP00000342698:R386C	ENSP00000304843:R442C	R	-	1	0	MCOLN3	85259544	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.458000	0.66679	2.718000	0.92993	0.655000	0.94253	CGT		PASS	0.368	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		17	36	17	36	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86590982	86590982	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:86590982T>A	ENST00000370571.2	-	3	1403	c.1037A>T	c.(1036-1038)aAt>aTt	p.N346I	COL24A1_ENST00000436319.1_Missense_Mutation_p.N346I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	346					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.N346I(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCTGAAATTTGTCTGAGT	0.413																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1036-1038)AAT>ATT		collagen, type XXIV, alpha 1 precursor							130.0	115.0	120.0					1																	86590982		1931	4134	6065	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590982T>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1037A>T	1.37:g.86590982T>A	ENSP00000359603:p.Asn346Ile					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.N346I	p.N346I	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1079	-			346					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1037A>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	7.477	0.647812	0.14516	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.19250	2.16;2.16	5.35	5.35	0.76521	.	0.000000	0.42420	D	0.000703	T	0.18383	0.0441	L	0.29908	0.895	0.19945	N	0.999948	D;P	0.61080	0.989;0.917	D;P	0.63877	0.919;0.507	T	0.08249	-1.0731	10	0.33141	T	0.24	.	14.5078	0.67764	0.0:0.0:0.0:1.0	.	346;346	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	346	ENSP00000359603:N346I;ENSP00000392531:N346I	ENSP00000359603:N346I	N	-	2	0	COL24A1	86363570	0.381000	0.25140	0.895000	0.35142	0.063000	0.16089	3.803000	0.55560	2.024000	0.59613	0.460000	0.39030	AAT		PASS	0.413	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		20	33	20	33	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91843989	91843989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:91843989G>A	ENST00000370425.3	-	10	1305	c.1207C>T	c.(1207-1209)Cag>Tag	p.Q403*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.Q82*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	403	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q403*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CGAACCAGCTGAACCAAAGAG	0.328																																						uc001doa.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1207-1209)CAG>TAG		HFM1 protein							106.0	103.0	104.0					1																	91843989		2203	4300	6503	SO:0001587	stop_gained	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843989G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1207C>T	1.37:g.91843989G>A	ENSP00000359454:p.Gln403*					HFM1_uc010osu.1_Nonsense_Mutation_p.Q82*|HFM1_uc010osv.1_Nonsense_Mutation_p.Q87*|HFM1_uc001doc.1_Nonsense_Mutation_p.Q403*	p.Q403*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	10	1307	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	403			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	c.1207C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	36	5.696937	0.96802	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	.	.	.	5.65	4.73	0.59995	.	0.529435	0.11764	U	0.531786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.1041	0.81209	0.0:0.0:0.8654:0.1346	.	.	.	.	X	403;82;87;436	.	ENSP00000359450:Q87X	Q	-	1	0	HFM1	91616577	1.000000	0.71417	0.940000	0.37924	0.959000	0.62525	4.115000	0.57865	1.349000	0.45751	0.563000	0.77884	CAG		PASS	0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		17	48	17	48	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92185653	92185653	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:92185653G>A	ENST00000525962.1	-	8	1271	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	TGFBR3_ENST00000370399.2_Missense_Mutation_p.P403S|TGFBR3_ENST00000212355.4_Missense_Mutation_p.P404S			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	404					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.P404S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTGGGAAAGGAAACGGAAGG	0.587																																						uc001doh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1210-1212)CCT>TCT		transforming growth factor, beta receptor III							64.0	67.0	66.0					1																	92185653		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185653G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1210C>T	1.37:g.92185653G>A	ENSP00000436127:p.Pro404Ser					TGFBR3_uc009wde.2_Missense_Mutation_p.P181S|TGFBR3_uc010osy.1_Missense_Mutation_p.P362S|TGFBR3_uc001doi.2_Missense_Mutation_p.P403S|TGFBR3_uc001doj.2_Missense_Mutation_p.P403S	p.P404S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1676	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	404			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1210C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812693	0.50527	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.38	5.38	0.77491	.	0.308295	0.35646	N	0.003072	T	0.42200	0.1192	L	0.56769	1.78	0.54753	D	0.999982	D;D;D	0.89917	0.985;0.999;1.0	P;D;D	0.75020	0.786;0.951;0.985	T	0.20371	-1.0277	10	0.08381	T	0.77	-6.8137	17.6758	0.88230	0.0:0.0:1.0:0.0	.	404;403;404	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	S	404;403;404;403	ENSP00000212355:P404S;ENSP00000359426:P403S;ENSP00000436127:P404S;ENSP00000432638:P403S	ENSP00000212355:P404S	P	-	1	0	TGFBR3	91958241	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	2.701000	0.47094	2.693000	0.91896	0.655000	0.94253	CCT		PASS	0.587	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		19	17	19	17	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92442942	92442942	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:92442942A>G	ENST00000362005.3	+	7	1379	c.961A>G	c.(961-963)Act>Gct	p.T321A	BRDT_ENST00000370389.2_Missense_Mutation_p.T248A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.T321A|BRDT_ENST00000402388.1_Missense_Mutation_p.T321A|BRDT_ENST00000394530.3_Missense_Mutation_p.T275A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	321	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.T321A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GGATCTTGGAACTATTAAGGT	0.313																																						uc001dok.3																			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(961-963)ACT>GCT		testis-specific bromodomain protein							53.0	55.0	54.0					1																	92442942		2191	4258	6449	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92442942A>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.961A>G	1.37:g.92442942A>G	ENSP00000354568:p.Thr321Ala					BRDT_uc001dol.3_Missense_Mutation_p.T321A|BRDT_uc010osz.1_Missense_Mutation_p.T325A|BRDT_uc009wdf.2_Missense_Mutation_p.T248A|BRDT_uc010ota.1_Missense_Mutation_p.T275A|BRDT_uc010otb.1_Missense_Mutation_p.T275A|BRDT_uc001dom.3_Missense_Mutation_p.T321A	p.T321A	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	6	1310	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	321			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.961A>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442452	0.83993	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	5.88	5.88	0.94601	Bromodomain (5);Bromodomain, conserved site (1);	0.078649	0.52532	D	0.000066	T	0.64972	0.2647	M	0.93763	3.455	0.58432	D	0.999995	P;P;D;P	0.89917	0.877;0.877;1.0;0.877	P;P;D;P	0.80764	0.461;0.461;0.994;0.461	T	0.75980	-0.3126	10	0.87932	D	0	-6.1468	16.2792	0.82664	1.0:0.0:0.0:0.0	.	275;275;325;321	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	A	321;248;321;321;275;321;321	ENSP00000354568:T321A;ENSP00000359416:T248A;ENSP00000387822:T321A;ENSP00000378038:T275A;ENSP00000404969:T321A;ENSP00000384051:T321A	ENSP00000354568:T321A	T	+	1	0	BRDT	92215530	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	5.220000	0.65267	2.243000	0.73865	0.533000	0.62120	ACT		PASS	0.313	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		20	35	20	35	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92498145	92498145	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:92498145C>T	ENST00000370383.4	+	2	413	c.315C>T	c.(313-315)ttC>ttT	p.F105F	EPHX4_ENST00000480758.1_3'UTR	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	105						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.F105F(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCAGAATTCTGGTAAGCTT	0.388																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(313-315)TTC>TTT		abhydrolase domain containing 7							171.0	163.0	165.0					1																	92498145		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92498145C>T	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.315C>T	1.37:g.92498145C>T							p.F105F	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			2	419	+			105					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.315C>T	CCDS736.1																																																																																				PASS	0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		17	33	17	33	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	92979373	92979373	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:92979373G>A	ENST00000370331.1	-	18	2282	c.2273C>T	c.(2272-2274)cCt>cTt	p.P758L	EVI5_ENST00000540033.1_Missense_Mutation_p.P758L|EVI5_ENST00000543509.1_Missense_Mutation_p.P769L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	758	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.P758L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCCGTGCAAAGGAAAACCAAC	0.438																																						uc001dox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2272-2274)CCT>CTT		ecotropic viral integration site 5							81.0	84.0	83.0					1																	92979373		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979373G>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2273C>T	1.37:g.92979373G>A	ENSP00000359356:p.Pro758Leu					EVI5_uc010otf.1_Missense_Mutation_p.P769L	p.P758L	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2283	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	758			Targeting to the centrosomes.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.2273C>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556389	0.45487	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.04654	3.59;3.59;3.58	5.77	5.77	0.91146	.	0.519098	0.19174	N	0.120879	T	0.01940	0.0061	L	0.29908	0.895	0.42665	D	0.993494	B;B	0.30281	0.275;0.18	B;B	0.24269	0.052;0.023	T	0.52586	-0.8556	10	0.40728	T	0.16	-6.6863	12.7593	0.57354	0.0:0.0:0.7948:0.2052	.	769;758	F5H4R0;O60447	.;EVI5_HUMAN	L	758;758;769	ENSP00000359356:P758L;ENSP00000440826:P758L;ENSP00000445019:P769L	ENSP00000359356:P758L	P	-	2	0	EVI5	92751961	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.605000	0.61119	2.712000	0.92718	0.650000	0.86243	CCT		PASS	0.438	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		28	34	28	34	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93724345	93724345	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:93724345C>T	ENST00000343253.7	+	26	4086	c.3584C>T	c.(3583-3585)tCt>tTt	p.S1195F	CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.S1314F|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.S1196F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1195								p.S1314F(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CTGGGGGCTTCTAAAGTACGT	0.343																																						uc001dpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3940-3942)TCT>TTT		sarcoma antigen NY-SAR-41							67.0	64.0	65.0					1																	93724345		1811	4064	5875	SO:0001583	missense	343099							g.chr1:93724345C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3584C>T	1.37:g.93724345C>T	ENSP00000343377:p.Ser1195Phe					CCDC18_uc001dpr.1_Missense_Mutation_p.S109F	p.S1314F	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	26	4109	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1195			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3941C>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.943930	0.73672	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479	.	.	.	5.33	5.33	0.75918	.	0.344674	0.31335	N	0.007832	T	0.60830	0.2299	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.67548	0.906;0.952	T	0.64063	-0.6495	9	0.66056	D	0.02	.	17.1574	0.86795	0.0:1.0:0.0:0.0	.	114;1314	Q5T9S4;G3V388	.;.	F	1195;1196;1314	.	ENSP00000343377:S1195F	S	+	2	0	CCDC18	93496933	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.981000	0.49329	2.654000	0.90174	0.655000	0.94253	TCT		PASS	0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		22	31	22	31	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97547898	97547898	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:97547898A>G	ENST00000370192.3	-	22	2995	c.2895T>C	c.(2893-2895)gaT>gaC	p.D965D		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	965	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.D965D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GGTAGCCAGAATCATTACAGG	0.383																																						uc001drv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2893-2895)GAT>GAC		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						218.0	201.0	207.0					1																	97547898		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97547898A>G	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2895T>C	1.37:g.97547898A>G							p.D965D	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	22	3032	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	965			4Fe-4S ferredoxin-type 2.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2895T>C	CCDS30777.1																																																																																				PASS	0.383	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		29	57	29	57	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98015267	98015267	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:98015267C>T	ENST00000370192.3	-	12	1473	c.1373G>A	c.(1372-1374)aGa>aAa	p.R458K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	458					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.R458K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GAGACCCCATCTGTTAAATTT	0.373																																						uc001drv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1372-1374)AGA>AAA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						70.0	65.0	67.0					1																	98015267		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98015267C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1373G>A	1.37:g.98015267C>T	ENSP00000359211:p.Arg458Lys						p.R458K	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	12	1510	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	458					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1373G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275007	0.23307	.	.	ENSG00000188641	ENST00000370192	D	0.92249	-3.0	6.16	3.34	0.38264	.	0.151926	0.56097	N	0.000024	T	0.68952	0.3057	N	0.17922	0.545	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62613	-0.6817	10	0.02654	T	1	-15.0585	11.0603	0.47944	0.0:0.7682:0.0:0.2318	.	458	Q12882	DPYD_HUMAN	K	458	ENSP00000359211:R458K	ENSP00000359211:R458K	R	-	2	0	DPYD	97787855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.466000	0.35310	0.498000	0.27948	0.650000	0.86243	AGA		PASS	0.373	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		8	23	8	23	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98058779	98058779	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:98058779C>T	ENST00000370192.3	-	10	1223	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	375					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.E375K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTTACCTCCTCAGGGACAGCT	0.403																																						uc001drv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(1123-1125)GAG>AAG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						99.0	99.0	99.0					1																	98058779		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98058779C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1123G>A	1.37:g.98058779C>T	ENSP00000359211:p.Glu375Lys						p.E375K	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	10	1260	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	375					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1123G>A	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214794	0.95104	.	.	ENSG00000188641	ENST00000370192	D	0.90504	-2.68	6.17	6.17	0.99709	.	0.098333	0.64402	D	0.000001	D	0.94118	0.8114	M	0.84846	2.72	0.80722	D	1	D	0.71674	0.998	P	0.55615	0.78	D	0.93366	0.6731	10	0.51188	T	0.08	-19.6095	19.0599	0.93085	0.0:1.0:0.0:0.0	.	375	Q12882	DPYD_HUMAN	K	375	ENSP00000359211:E375K	ENSP00000359211:E375K	E	-	1	0	DPYD	97831367	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.259000	0.78381	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.403	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		29	34	29	34	---	---	---	---
SNX7	51375	broad.mit.edu	37	1	99150492	99150492	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:99150492C>T	ENST00000306121.3	+	2	241	c.232C>T	c.(232-234)Cct>Tct	p.P78S	SNX7_ENST00000370189.5_Missense_Mutation_p.P14S|SNX7_ENST00000529992.1_Missense_Mutation_p.P78S	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	14	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.P78S(1)|p.P14S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCCAACATCCCCTTTATCAAT	0.338																																						uc010ouc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(232-234)CCT>TCT		sorting nexin 7 isoform a							119.0	109.0	112.0					1																	99150492		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99150492C>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.232C>T	1.37:g.99150492C>T	ENSP00000304429:p.Pro78Ser					SNX7_uc001dsa.2_Missense_Mutation_p.P14S|SNX7_uc010oud.1_Missense_Mutation_p.P78S	p.P78S	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	2	284	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	14					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.232C>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256590	0.80246	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.55588	1.54;1.95;1.3;0.51	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	L	0.43152	1.355	0.80722	D	1	D;D;P	0.89917	1.0;0.958;0.909	D;P;P	0.87578	0.998;0.793;0.48	T	0.49781	-0.8903	10	0.24483	T	0.36	-21.0522	19.1723	0.93583	0.0:1.0:0.0:0.0	.	78;78;14	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	S	14;78;78;14	ENSP00000359208:P14S;ENSP00000434731:P78S;ENSP00000304429:P78S;ENSP00000388266:P14S	ENSP00000304429:P78S	P	+	1	0	SNX7	98923080	1.000000	0.71417	0.982000	0.44146	0.675000	0.39556	6.969000	0.76092	2.533000	0.85409	0.650000	0.86243	CCT		PASS	0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			13	25	13	25	---	---	---	---
PALMD	54873	broad.mit.edu	37	1	100111912	100111912	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:100111912C>T	ENST00000263174.4	+	1	414	c.39C>T	c.(37-39)gcC>gcT	p.A13A	PALMD_ENST00000605497.1_Silent_p.A13A	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	13					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.A13A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GACTCCAGGCCATCACAGTAA	0.517																																						uc001dsg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(37-39)GCC>GCT		palmdelphin							113.0	107.0	109.0					1																	100111912		2203	4300	6503	SO:0001819	synonymous_variant	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100111912C>T	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.39C>T	1.37:g.100111912C>T						PALMD_uc001dsf.2_Silent_p.A13A	p.A13A	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	1	482	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	13			Potential.		Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Silent	SNP	ENST00000263174.4	37	c.39C>T	CCDS758.1																																																																																				PASS	0.517	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		24	34	24	34	---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100587028	100587028	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:100587028G>A	ENST00000287482.5	-	5	529	c.389C>T	c.(388-390)cCt>cTt	p.P130L	SASS6_ENST00000535161.1_5'UTR|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	130					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.P130L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATGCTTAAAAGGATTTGTCTC	0.348																																						uc001dsu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(388-390)CCT>CTT		spindle assembly abnormal protein 6							76.0	78.0	77.0					1																	100587028		2203	4300	6503	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100587028G>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.389C>T	1.37:g.100587028G>A	ENSP00000287482:p.Pro130Leu					SASS6_uc009wdz.2_5'UTR	p.P130L	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	5	530	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	130					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.389C>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315230	0.81358	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.30714	1.52	5.61	4.63	0.57726	.	0.054825	0.64402	D	0.000001	T	0.38081	0.1027	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.02126	-1.1209	10	0.37606	T	0.19	-14.6884	15.6439	0.77033	0.0:0.0:0.8622:0.1378	.	130	Q6UVJ0	SAS6_HUMAN	L	130;103	ENSP00000287482:P130L	ENSP00000287482:P130L	P	-	2	0	SASS6	100359616	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.514000	0.73746	2.793000	0.96121	0.655000	0.94253	CCT		PASS	0.348	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		7	17	7	17	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102270080	102270080	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:102270080C>T	ENST00000338858.5	-	6	1150	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.S364N			Q96PB7	NOE3_HUMAN	olfactomedin 3	384	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.S364N(1)|p.S384N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTGCTCCAGCTCTTCATCAC	0.488																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1150-1152)AGC>AAC		olfactomedin 3							116.0	98.0	104.0					1																	102270080		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270080C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1151G>A	1.37:g.102270080C>T	ENSP00000345192:p.Ser384Asn					OLFM3_uc001dug.2_Missense_Mutation_p.S364N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.S289N|OLFM3_uc001due.2_RNA	p.S384N	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1222	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	384			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1151G>A		.	.	.	.	.	.	.	.	.	.	C	15.29	2.790597	0.50102	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89123	-2.47;-2.47	5.67	5.67	0.87782	Olfactomedin-like (3);	0.039177	0.85682	D	0.000000	D	0.92977	0.7765	M	0.83012	2.62	0.80722	D	1	P;B	0.46621	0.881;0.322	P;B	0.54174	0.744;0.247	D	0.93441	0.6794	10	0.87932	D	0	.	19.7477	0.96257	0.0:1.0:0.0:0.0	.	364;384	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	364;384	ENSP00000359121:S364N;ENSP00000345192:S384N	ENSP00000345192:S384N	S	-	2	0	OLFM3	102042668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.498000	0.73679	2.671000	0.90904	0.650000	0.86243	AGC		PASS	0.488	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			5	31	5	31	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103400031	103400031	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:103400031C>T	ENST00000370096.3	-	46	3886	c.3574G>A	c.(3574-3576)Gga>Aga	p.G1192R	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1153R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1076R|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1204R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1192	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)	p.G1192R(1)|p.G1204R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGAGGTCCAGGGAAGCCT	0.483																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3574-3576)GGA>AGA		alpha 1 type XI collagen isoform A							93.0	85.0	88.0					1																	103400031		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103400031C>T	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.3574G>A	1.37:g.103400031C>T	ENSP00000359114:p.Gly1192Arg					COL11A1_uc001duk.2_Missense_Mutation_p.G388R|COL11A1_uc001dum.2_Missense_Mutation_p.G1204R|COL11A1_uc001dun.2_Missense_Mutation_p.G1153R|COL11A1_uc009weh.2_Missense_Mutation_p.G1076R	p.G1192R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	46	3892	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1192			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3574G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119322	0.77323	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.96877	0.9643	10	0.87932	D	0	.	19.1416	0.93448	0.0:1.0:0.0:0.0	.	1076;1153;1204;1192;412	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1192;1204;1153;412;1076	ENSP00000359114:G1192R;ENSP00000351163:G1204R;ENSP00000302551:G1153R;ENSP00000426533:G1076R	ENSP00000302551:G1153R	G	-	1	0	COL11A1	103172619	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.752000	0.85141	2.589000	0.87451	0.655000	0.94253	GGA		PASS	0.483	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		6	20	6	20	---	---	---	---
AMY1C	278	broad.mit.edu	37	1	104297236	104297236	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:104297236G>A	ENST00000370079.3	+	6	1058	c.994G>A	c.(994-996)Gat>Aat	p.D332N		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	332					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.D332N(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TACCTTCTGGGATGCTAGGTA	0.383																																						uc001duy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)GAT>AAT		salivary amylase alpha 1A precursor							258.0	259.0	258.0					1																	104297236		2191	4256	6447	SO:0001583	missense	276				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	g.chr1:104297236G>A		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.994G>A	1.37:g.104297236G>A	ENSP00000359096:p.Asp332Asn					AMY1A_uc001duz.2_Missense_Mutation_p.D332N	p.D332N	NM_001008221	NP_001008222	P04745	AMY1_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	7	1208	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	332					A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	ENST00000370079.3	37	c.994G>A	CCDS30784.1	.	.	.	.	.	.	.	.	.	.	G	8.808	0.934528	0.18206	.	.	ENSG00000187733	ENST00000370079	D	0.98381	-4.9	2.23	2.23	0.28157	.	0.050618	0.85682	D	0.000000	D	0.97259	0.9104	M	0.66939	2.045	0.80722	D	1	.	.	.	.	.	.	D	0.96407	0.9301	8	0.38643	T	0.18	.	12.8048	0.57607	0.0:0.0:1.0:0.0	.	.	.	.	N	332	ENSP00000359096:D332N	ENSP00000359096:D332N	D	+	1	0	AMY1C	104098759	1.000000	0.71417	0.988000	0.46212	0.104000	0.19210	7.416000	0.80143	1.239000	0.43787	0.184000	0.17185	GAT		PASS	0.383	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030375.1	NM_001008219		32	587	32	587	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109793891	109793891	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:109793891C>T	ENST00000271332.3	+	1	1251	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	397	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P397L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATAATGCCCCCCAGTTTAGT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(1189-1191)CCC>CTC		cadherin EGF LAG seven-pass G-type receptor 2							73.0	81.0	78.0					1																	109793891		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793891C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1190C>T	1.37:g.109793891C>T	ENSP00000271332:p.Pro397Leu						p.P397L	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1251	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	397			Cadherin 2.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1190C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	25.1	4.603338	0.87157	.	.	ENSG00000143126	ENST00000271332	D	0.85088	-1.94	4.99	4.99	0.66335	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95576	0.8562	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96939	0.9686	9	0.66056	D	0.02	.	18.5303	0.90989	0.0:1.0:0.0:0.0	.	397	Q9HCU4	CELR2_HUMAN	L	397	ENSP00000271332:P397L	ENSP00000271332:P397L	P	+	2	0	CELSR2	109595414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.626000	0.88956	0.555000	0.69702	CCC		PASS	0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	28	9	28	---	---	---	---
STRIP1	85369	broad.mit.edu	37	1	110589365	110589365	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:110589365C>T	ENST00000369795.3	+	13	1502	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	STRIP1_ENST00000369796.1_Missense_Mutation_p.L399F	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	494					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L494F(1)									CCGCTCCCCTCTCTCAGGGGT	0.592																																						uc001dza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1480-1482)CTC>TTC		hypothetical protein LOC85369							133.0	133.0	133.0					1																	110589365		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110589365C>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1480C>T	1.37:g.110589365C>T	ENSP00000358810:p.Leu494Phe					FAM40A_uc001dyz.1_Missense_Mutation_p.L399F|FAM40A_uc009wfp.1_Missense_Mutation_p.L318F	p.L494F	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	13	1499	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	494					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.1480C>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435307	0.62955	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.50813	0.74;0.73	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.24115	0.695	0.80722	D	1	B;B	0.31910	0.346;0.186	B;B	0.34489	0.184;0.158	T	0.04961	-1.0915	10	0.10902	T	0.67	-20.6927	8.5303	0.33331	0.0:0.786:0.0:0.214	.	399;494	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	F	399;494	ENSP00000358811:L399F;ENSP00000358810:L494F	ENSP00000358810:L494F	L	+	1	0	FAM40A	110390888	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.663000	0.46774	2.775000	0.95449	0.650000	0.86243	CTC		PASS	0.592	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		20	69	20	69	---	---	---	---
SLC6A17	388662	broad.mit.edu	37	1	110717573	110717573	+	Silent	SNP	C	C	T	rs538366520		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:110717573C>T	ENST00000331565.4	+	5	1229	c.744C>T	c.(742-744)tcC>tcT	p.S248S	RP5-1028L10.2_ENST00000440688.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	248					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S248S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCATCCAGTCCTCGGGGAAGG	0.612																																						uc009wfq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(742-744)TCC>TCT		solute carrier family 6, member 17							55.0	53.0	53.0					1																	110717573		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110717573C>T		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.744C>T	1.37:g.110717573C>T							p.S248S	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	5	1205	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	248			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.744C>T	CCDS30799.1																																																																																				PASS	0.612	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		6	20	6	20	---	---	---	---
CD53	963	broad.mit.edu	37	1	111439345	111439345	+	Missense_Mutation	SNP	G	G	A	rs150734121		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:111439345G>A	ENST00000271324.5	+	6	606	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	165					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R165Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCTCAGATCGAAAAGTGGAG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20078	0.0		0.0	False		,,,				2504	0.0					uc001dzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)CGA>CAA		CD53 antigen		G	GLN/ARG,GLN/ARG	5,4401	11.4+/-27.6	0,5,2198	200.0	184.0	190.0		494,494	1.0	0.0	1	dbSNP_134	190	0,8600		0,0,4300	yes	missense,missense	CD53	NM_000560.3,NM_001040033.1	43,43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign	165/220,165/220	111439345	5,13001	2203	4300	6503	SO:0001583	missense	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111439345G>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.494G>A	1.37:g.111439345G>A	ENSP00000271324:p.Arg165Gln					CD53_uc001dzx.2_Missense_Mutation_p.R165Q|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Intron	p.R165Q	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	7	665	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	165			Extracellular (Potential).		B2R905|Q5U0D6	Missense_Mutation	SNP	ENST00000271324.5	37	c.494G>A	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123565	0.20959	0.001135	0.0	ENSG00000143119	ENST00000271324	D	0.86865	-2.18	5.13	0.978	0.19740	Tetraspanin, EC2 domain (1);	2.166060	0.02967	N	0.143950	T	0.55609	0.1931	N	0.13198	0.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46638	-0.9177	10	0.28530	T	0.3	.	3.3285	0.07075	0.2987:0.4653:0.15:0.086	.	165	P19397	CD53_HUMAN	Q	165	ENSP00000271324:R165Q	ENSP00000271324:R165Q	R	+	2	0	CD53	111240868	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.954000	0.03873	-0.074000	0.12820	-0.347000	0.07816	CGA		PASS	0.443	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		22	50	22	50	---	---	---	---
CD53	963	broad.mit.edu	37	1	111440442	111440442	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:111440442G>A	ENST00000271324.5	+	7	628	c.516G>A	c.(514-516)gcG>gcA	p.A172A	CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Silent_p.A113A	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	172					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A172A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		GTTGCTATGCGAAAGCAAGAC	0.378																																						uc001dzw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)GCG>GCA		CD53 antigen							219.0	202.0	208.0					1																	111440442		2203	4300	6503	SO:0001819	synonymous_variant	963				signal transduction	integral to membrane|plasma membrane		g.chr1:111440442G>A	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.516G>A	1.37:g.111440442G>A						CD53_uc001dzx.2_Silent_p.A172A|CD53_uc010owa.1_Silent_p.A113A|CD53_uc001dzy.2_Intron	p.A172A	NM_001040033	NP_001035122	P19397	CD53_HUMAN		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)	8	687	+		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	172			Extracellular (Potential).		B2R905|Q5U0D6	Silent	SNP	ENST00000271324.5	37	c.516G>A	CCDS829.1																																																																																				PASS	0.378	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560		15	35	15	35	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111490704	111490704	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:111490704G>A	ENST00000369763.4	-	4	2577	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	LRIF1_ENST00000494675.1_Silent_p.F193F|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Silent_p.F193F	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.F729F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGTCACTGGGAAAATATCTT	0.368																																						uc001eaa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2185-2187)TTC>TTT		receptor-interacting factor 1 isoform 1							120.0	124.0	123.0					1																	111490704		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490704G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2187C>T	1.37:g.111490704G>A						C1orf103_uc001dzz.2_Silent_p.F193F|C1orf103_uc001eab.2_Silent_p.F193F|C1orf103_uc001eac.1_Silent_p.F192F	p.F729F	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	4	2443	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	729					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.2187C>T	CCDS30800.1																																																																																				PASS	0.368	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		18	62	18	62	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111860303	111860303	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:111860303G>A	ENST00000369740.1	+	7	584	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_Splice_Site_p.E53K|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Splice_Site_p.E161K|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	161					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.E161K(1)|p.E53K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TATTCTGTAGGAAATGCGTGA	0.413																																						uc001eas.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(481-483)GAA>AAA		acidic chitinase isoform c							68.0	63.0	65.0					1																	111860303		2203	4300	6503	SO:0001630	splice_region_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111860303G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.481-1G>A	1.37:g.111860303G>A						CHIA_uc001ear.2_Missense_Mutation_p.E53K|CHIA_uc001eaq.2_Missense_Mutation_p.E53K|CHIA_uc009wgc.2_Missense_Mutation_p.E53K|CHIA_uc001eat.2_5'UTR|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_5'UTR|CHIA_uc009wgd.2_5'UTR	p.E161K	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	7	584	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	161					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.481G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533236	0.85812	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.56	3.63	0.41609	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000007	T	0.14098	0.0341	M	0.83774	2.66	0.80722	D	1	D	0.61697	0.99	P	0.58077	0.832	T	0.01102	-1.1451	9	.	.	.	-19.4386	9.838	0.40982	0.1051:0.0:0.8949:0.0	.	161	Q9BZP6	CHIA_HUMAN	K	105;161;161;53	ENSP00000387671:E105K;ENSP00000358755:E161K;ENSP00000341828:E161K;ENSP00000391132:E53K	.	E	+	1	0	CHIA	111661826	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.010000	0.76353	1.010000	0.39314	0.563000	0.77884	GAA		PASS	0.413	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Missense_Mutation	10	45	10	45	---	---	---	---
MOV10	4343	broad.mit.edu	37	1	113238187	113238188	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:113238187_113238188GG>AA	ENST00000413052.2	+	11	2160_2161	c.1770_1771GG>AA	c.(1768-1773)gaGGac>gaAAac	p.D591N	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369644.1_Missense_Mutation_p.D535N|MOV10_ENST00000369645.1_Missense_Mutation_p.D591N|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.D591N	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	591					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D591N(2)|p.E590E(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGTACCTGAGGACATCAAGGT	0.594																																						uc001eck.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|skin(1)	5						c.(1768-1770)GAG>GAA|c.(1771-1773)GAC>AAC		Mov10, Moloney leukemia virus 10, homolog																																				SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113238187G>A|g.chr1:113238188G>A	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	Exception_encountered	1.37:g.113238187_113238188delinsAA	ENSP00000399797:p.Asp591Asn					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.E590E|MOV10_uc001ecm.2_Silent_p.E530E|MOV10_uc009wgj.1_Silent_p.E530E|MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.D591N|MOV10_uc001ecm.2_Missense_Mutation_p.D531N|MOV10_uc009wgj.1_Missense_Mutation_p.D531N	p.E590E|p.D591N	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	11	2040|2041	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	590|591					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent|Missense_Mutation	SNP	ENST00000413052.2	37	c.1770G>A|c.1771G>A	CCDS853.1																																																																																				PASS	0.594	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		12	17	12	17	---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114454061	114454061	+	Missense_Mutation	SNP	C	C	T	rs145569979	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:114454061C>T	ENST00000369563.3	+	4	1293	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	283					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.R283C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCGAGCTTCGTGCCTTTGT	0.562								Other identified genes with known or suspected DNA repair function					C|||	2	0.000399361	0.0	0.0	5008	,	,		20375	0.0		0.002	False		,,,				2504	0.0					uc001eeg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CGT>TGT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1B (PSO2 homolog, S.		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	129.0	109.0	116.0		847	-2.4	0.0	1	dbSNP_134	116	26,8574	18.5+/-59.3	0,26,4274	yes	missense	DCLRE1B	NM_022836.3	180	0,29,6474	TT,TC,CC		0.3023,0.0681,0.223	benign	283/533	114454061	29,12977	2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454061C>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.847C>T	1.37:g.114454061C>T	ENSP00000358576:p.Arg283Cys					DCLRE1B_uc001eeh.2_Missense_Mutation_p.R157C|DCLRE1B_uc001eei.2_Missense_Mutation_p.R157C	p.R283C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1018	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	283					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.847C>T	CCDS866.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	10.32	1.318347	0.23994	6.81E-4	0.003023	ENSG00000118655	ENST00000369563	T	0.44881	0.91	6.02	-2.37	0.06643	DNA repair metallo-beta-lactamase (1);	0.761458	0.13673	N	0.370754	T	0.15522	0.0374	L	0.45228	1.405	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37407	-0.9707	10	0.30078	T	0.28	-10.9027	14.9505	0.71071	0.0:0.5547:0.0:0.4453	.	283	Q9H816	DCR1B_HUMAN	C	283	ENSP00000358576:R283C	ENSP00000358576:R283C	R	+	1	0	DCLRE1B	114255584	0.000000	0.05858	0.000000	0.03702	0.830000	0.47004	0.024000	0.13555	-0.271000	0.09272	-0.907000	0.02831	CGT		PASS	0.562	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		16	50	16	50	---	---	---	---
HIPK1	204851	broad.mit.edu	37	1	114515898	114515898	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:114515898T>A	ENST00000369558.1	+	16	3629	c.3397T>A	c.(3397-3399)Ttc>Atc	p.F1133I	HIPK1_ENST00000369561.4_Missense_Mutation_p.F1099I|HIPK1_ENST00000369554.2_Missense_Mutation_p.F1088I|HIPK1_ENST00000406344.1_Missense_Mutation_p.F739I|HIPK1_ENST00000369553.1_Missense_Mutation_p.F739I|HIPK1_ENST00000340480.4_Missense_Mutation_p.F759I|HIPK1_ENST00000426820.2_Missense_Mutation_p.F1133I|HIPK1_ENST00000369555.2_Missense_Mutation_p.F1088I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1133					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|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)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F1133I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTCATCTTTTCTCCCCACA	0.597																																						uc001eem.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3397-3399)TTC>ATC		homeodomain-interacting protein kinase 1 isoform							184.0	155.0	165.0					1																	114515898		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515898T>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3397T>A	1.37:g.114515898T>A	ENSP00000358571:p.Phe1133Ile					HIPK1_uc001een.2_Missense_Mutation_p.F1133I|HIPK1_uc001eeo.2_Missense_Mutation_p.F759I|HIPK1_uc001eep.2_Missense_Mutation_p.F739I|HIPK1_uc001eeq.2_Missense_Mutation_p.F425I	p.F1133I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3558	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1133					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.3397T>A	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.58|19.58	3.854860|3.854860	0.71719|0.71719	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344|ENST00000361587	T;T;T;T;T;T;T;T;T|.	0.47177|.	0.86;0.91;0.85;0.85;0.91;0.86;3.91;3.0;3.0|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47655|0.47655	0.1457|0.1457	L|L	0.36672|0.36672	1.1|1.1	0.52099|0.52099	D|D	0.999946|0.999946	P;B;B|.	0.36222|.	0.544;0.371;0.16|.	B;B;B|.	0.44044|.	0.439;0.141;0.04|.	T|T	0.45396|0.45396	-0.9264|-0.9264	10|6	0.17369|.	T|.	0.5|.	.|.	16.1839|16.1839	0.81934|0.81934	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	425;739;1133|.	E9PCF6;Q86Z02-4;Q86Z02|.	.;.;HIPK1_HUMAN|.	I|Y	1204;1133;1088;1088;1133;1099;759;739;739|413	ENSP00000407442:F1204I;ENSP00000409673:F1133I;ENSP00000358567:F1088I;ENSP00000358568:F1088I;ENSP00000358571:F1133I;ENSP00000358574:F1099I;ENSP00000340956:F759I;ENSP00000358566:F739I;ENSP00000384960:F739I|.	ENSP00000340956:F759I|.	F|F	+|+	1|2	0|0	HIPK1|HIPK1	114317421|114317421	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	4.635000|4.635000	0.61332|0.61332	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	TTC|TTT		PASS	0.597	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		46	72	46	72	---	---	---	---
DENND2C	163259	broad.mit.edu	37	1	115137115	115137115	+	Nonsense_Mutation	SNP	G	G	A	rs374395558	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:115137115G>A	ENST00000393274.1	-	18	3035	c.2410C>T	c.(2410-2412)Cag>Tag	p.Q804*	DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q692*|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q747*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	804					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q747*(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTGCTCCTGAGTCAAGATT	0.373																																						uc001efd.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)	3						c.(2410-2412)CAG>TAG		DENN/MADD domain containing 2C							159.0	152.0	154.0					1																	115137115		2203	4300	6503	SO:0001587	stop_gained	163259							g.chr1:115137115G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2410C>T	1.37:g.115137115G>A	ENSP00000376955:p.Gln804*					DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Nonsense_Mutation_p.Q747*	p.Q804*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3112	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	804					B1AL26|Q5TCX6|Q6P3R3	Nonsense_Mutation	SNP	ENST00000393274.1	37	c.2410C>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	45	11.547377	0.99574	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.91	5.91	0.95273	.	0.169062	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.3592	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	747;804;804;692	.	ENSP00000358553:Q804X	Q	-	1	0	DENND2C	114938638	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.899000	0.69846	2.822000	0.97130	0.558000	0.71614	CAG		PASS	0.373	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		17	48	17	48	---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116226635	116226635	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:116226635C>T	ENST00000355485.2	+	6	1288	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Silent_p.S339S|VANGL1_ENST00000369510.4_Silent_p.S337S|VANGL1_ENST00000310260.3_Silent_p.S339S	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	339					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.S339S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGGACTCAAGCCACAACGAGT	0.537																																						uc001efv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1015-1017)AGC>AGT		vang-like 1							77.0	70.0	72.0					1																	116226635		2203	4300	6503	SO:0001819	synonymous_variant	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116226635C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1017C>T	1.37:g.116226635C>T						VANGL1_uc009wgy.1_Silent_p.S337S	p.S339S	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1288	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	339			Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	c.1017C>T	CCDS883.1																																																																																				PASS	0.537	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			16	22	16	22	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117663382	117663382	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:117663382G>T	ENST00000256649.4	-	1	968	c.442C>A	c.(442-444)Cag>Aag	p.Q148K	TRIM45_ENST00000369464.3_Missense_Mutation_p.Q148K|TRIM45_ENST00000369461.3_Missense_Mutation_p.Q91K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	148					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q148K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TTGCAGGTCTGACACCTCTTC	0.547																																						uc001egz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(442-444)CAG>AAG		tripartite motif-containing 45 isoform 1							106.0	94.0	98.0					1																	117663382		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117663382G>T		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.442C>A	1.37:g.117663382G>T	ENSP00000256649:p.Gln148Lys					TRIM45_uc009whe.2_Missense_Mutation_p.Q148K|TRIM45_uc001eha.2_Missense_Mutation_p.Q44K	p.Q148K	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	1	1030	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	148			B box-type 1.		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.442C>A	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853533	0.71719	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.40756	1.02;1.02;1.02	5.0	5.0	0.66597	Zinc finger, B-box (3);	0.194382	0.46442	D	0.000292	T	0.27866	0.0686	L	0.44542	1.39	0.45718	D	0.998625	P;P	0.45283	0.825;0.855	B;P	0.44647	0.327;0.456	T	0.02603	-1.1135	10	0.16896	T	0.51	-29.6716	17.4617	0.87621	0.0:0.0:1.0:0.0	.	148;148	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	K	148;148;91	ENSP00000256649:Q148K;ENSP00000358476:Q148K;ENSP00000358473:Q91K	ENSP00000256649:Q148K	Q	-	1	0	TRIM45	117464905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.814000	0.55643	2.579000	0.87056	0.561000	0.74099	CAG		PASS	0.547	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		8	31	8	31	---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118483498	118483499	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:118483498_118483499CC>TT	ENST00000349139.5	+	7	771_772	c.724_725CC>TT	c.(724-726)CCt>TTt	p.P242F	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	242						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P242S(1)|p.P242L(1)|p.P242F(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGGATCTTCTCCTGGAATACAA	0.391																																						uc010oxe.1																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(724-726)CCT>TCT|c.(724-726)CCT>CTT		WD repeat-containing protein 3																																				SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118483498C>T|g.chr1:118483499C>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	Exception_encountered	1.37:g.118483498_118483499delinsTT	ENSP00000308179:p.Pro242Phe					WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P71S|WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P71L	p.P242S|p.P242L	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	7	790|791	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	242						Missense_Mutation	SNP	ENST00000349139.5	37	c.724C>T|c.725C>T	CCDS898.1																																																																																				PASS	0.391	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		52|50	113|114	50	113	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118538995	118538995	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:118538995G>A	ENST00000336338.5	-	34	5116	c.5051C>T	c.(5050-5052)cCa>cTa	p.P1684L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1684						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P1684L(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTCTACCTGGCTGTTCCTG	0.428																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(5050-5052)CCA>CTA		sperm associated antigen 17							110.0	103.0	105.0					1																	118538995		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118538995G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5051C>T	1.37:g.118538995G>A	ENSP00000337804:p.Pro1684Leu						p.P1684L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	34	5119	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1684					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5051C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591904	0.66219	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.25749	1.78	5.1	5.1	0.69264	.	0.113577	0.64402	D	0.000010	T	0.43787	0.1263	M	0.68952	2.095	0.50313	D	0.999864	D	0.89917	1.0	D	0.91635	0.999	T	0.39643	-0.9604	10	0.87932	D	0	.	17.4519	0.87594	0.0:0.0:1.0:0.0	.	1684	Q6Q759	SPG17_HUMAN	L	1684;164	ENSP00000337804:P1684L	ENSP00000337804:P1684L	P	-	2	0	SPAG17	118340518	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	5.786000	0.69006	2.634000	0.89283	0.655000	0.94253	CCA		PASS	0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		26	74	26	74	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118548057	118548057	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:118548057G>A	ENST00000336338.5	-	32	4821	c.4756C>T	c.(4756-4758)Cct>Tct	p.P1586S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1586						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P1586S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCCCTCAGGATCCAGAACC	0.438																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4756-4758)CCT>TCT		sperm associated antigen 17							127.0	123.0	125.0					1																	118548057		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548057G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4756C>T	1.37:g.118548057G>A	ENSP00000337804:p.Pro1586Ser						p.P1586S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4824	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1586					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4756C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083823	0.76642	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.20463	2.07	5.6	5.6	0.85130	.	0.157212	0.64402	D	0.000019	T	0.33904	0.0879	L	0.57536	1.79	0.43724	D	0.9962	D	0.89917	1.0	D	0.91635	0.999	T	0.01087	-1.1456	10	0.26408	T	0.33	.	18.3954	0.90496	0.0:0.0:1.0:0.0	.	1586	Q6Q759	SPG17_HUMAN	S	1586;66	ENSP00000337804:P1586S	ENSP00000337804:P1586S	P	-	1	0	SPAG17	118349580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.709000	0.74665	2.624000	0.88883	0.655000	0.94253	CCT		PASS	0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		32	57	32	57	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118574470	118574470	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:118574470C>T	ENST00000336338.5	-	25	3519	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1152						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1152K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATATTGTTTCTAAATCAGGA	0.328																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3454-3456)GAA>AAA		sperm associated antigen 17							96.0	90.0	92.0					1																	118574470		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118574470C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3454G>A	1.37:g.118574470C>T	ENSP00000337804:p.Glu1152Lys						p.E1152K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	25	3522	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1152					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3454G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139584	0.56936	.	.	ENSG00000155761	ENST00000336338	T	0.29142	1.58	5.52	5.52	0.82312	.	0.419940	0.25355	N	0.031271	T	0.25827	0.0629	L	0.47716	1.5	0.33394	D	0.576509	D	0.55385	0.971	P	0.52159	0.691	T	0.03453	-1.1035	10	0.17832	T	0.49	.	17.1883	0.86872	0.0:1.0:0.0:0.0	.	1152	Q6Q759	SPG17_HUMAN	K	1152	ENSP00000337804:E1152K	ENSP00000337804:E1152K	E	-	1	0	SPAG17	118375993	1.000000	0.71417	0.854000	0.33618	0.027000	0.11550	4.417000	0.59822	2.587000	0.87381	0.655000	0.94253	GAA		PASS	0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		9	44	9	44	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118581951	118581951	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:118581951C>T	ENST00000336338.5	-	23	3348	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1095						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1095K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTTCTTCTTCCTCTTCTAAA	0.388																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3283-3285)GAA>AAA		sperm associated antigen 17							133.0	134.0	133.0					1																	118581951		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118581951C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3283G>A	1.37:g.118581951C>T	ENSP00000337804:p.Glu1095Lys						p.E1095K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	23	3351	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1095					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3283G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	2.909	-0.225789	0.06022	.	.	ENSG00000155761	ENST00000336338	T	0.28895	1.59	5.24	1.0	0.19881	.	1.649430	0.03176	N	0.171469	T	0.02533	0.0077	N	0.00707	-1.245	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.30416	-0.9979	10	0.12766	T	0.61	.	8.3471	0.32279	0.0:0.5363:0.0:0.4637	.	1095	Q6Q759	SPG17_HUMAN	K	1095	ENSP00000337804:E1095K	ENSP00000337804:E1095K	E	-	1	0	SPAG17	118383474	0.000000	0.05858	0.017000	0.16124	0.247000	0.25773	0.037000	0.13840	0.020000	0.15106	-0.466000	0.05196	GAA		PASS	0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		15	27	15	27	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120056657	120056657	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:120056657G>A	ENST00000369413.3	+	4	656	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	HSD3B1_ENST00000235547.6_Missense_Mutation_p.G173R|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G171R			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	171					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.G171W(1)|p.G171R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GGCGGCTAACGGGTGGAATCT	0.507																																						uc001ehv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(511-513)GGG>AGG		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						73.0	74.0	74.0					1																	120056657		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056657G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.511G>A	1.37:g.120056657G>A	ENSP00000358421:p.Gly171Arg					HSD3B1_uc001ehw.2_Missense_Mutation_p.G173R	p.G171R	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	656	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	171					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.511G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076587	0.36662	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87650	-2.28;-2.28;-2.28	3.7	3.7	0.42460	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.109105	0.64402	D	0.000010	D	0.91788	0.7402	M	0.79805	2.47	0.49915	D	0.999837	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92844	0.6291	10	0.87932	D	0	-18.6787	13.2928	0.60280	0.0:0.0:1.0:0.0	.	173;171	Q5TDG2;P14060	.;3BHS1_HUMAN	R	171;173;171	ENSP00000358421:G171R;ENSP00000235547:G173R;ENSP00000432268:G171R	ENSP00000235547:G173R	G	+	1	0	HSD3B1	119858180	1.000000	0.71417	0.043000	0.18650	0.010000	0.07245	6.894000	0.75655	2.033000	0.60031	0.491000	0.48974	GGG		PASS	0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		36	42	36	42	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120437686	120437686	+	Missense_Mutation	SNP	C	C	T	rs145317971		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:120437686C>T	ENST00000369400.1	-	1	1432	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	425	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R425Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTGGCAACACCGATCTTTCTG	0.453																																						uc001eij.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1273-1275)CGG>CAG		ADAM metallopeptidase domain 30 preproprotein		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	187.0	171.0	177.0		1274	-9.5	0.0	1	dbSNP_134	177	0,8600		0,0,4300	no	missense	ADAM30	NM_021794.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	425/791	120437686	1,13005	2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437686C>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1274G>A	1.37:g.120437686C>T	ENSP00000358407:p.Arg425Gln						p.R425Q	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1428	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	425			Disintegrin.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1274G>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	6.888	0.533324	0.13188	2.27E-4	0.0	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.11277	2.79	4.75	-9.5	0.00584	Blood coagulation inhibitor, Disintegrin (5);	3.325100	0.01023	N	0.004018	T	0.01029	0.0034	N	0.20881	0.62	0.09310	N	1	B	0.27823	0.19	B	0.26416	0.069	T	0.42032	-0.9475	10	0.10902	T	0.67	.	0.1879	0.00131	0.3321:0.2238:0.1628:0.2813	.	425	Q9UKF2	ADA30_HUMAN	Q	425	ENSP00000358407:R425Q	ENSP00000358407:R425Q	R	-	2	0	ADAM30	120239209	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.598000	0.02087	-2.913000	0.00307	-0.993000	0.02533	CGG		PASS	0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		19	86	19	86	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120510184	120510184	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:120510184C>G	ENST00000256646.2	-	8	1544	c.1325G>C	c.(1324-1326)tGt>tCt	p.C442S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	442	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C442S(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACACTCACAGTGGAAGGC	0.473			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1324-1326)TGT>TCT		notch 2 preproprotein							172.0	137.0	149.0					1																	120510184		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510184C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1325G>C	1.37:g.120510184C>G	ENSP00000256646:p.Cys442Ser					NOTCH2_uc001eil.2_Missense_Mutation_p.C442S|NOTCH2_uc001eim.3_Missense_Mutation_p.C359S	p.C442S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1581	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	442			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1325G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178673	0.78564	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99429	-5.89	5.68	5.68	0.88126	EGF-like calcium-binding, conserved site (1);EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38778	U	0.001566	D	0.99829	0.9923	H	0.98738	4.315	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.96812	0.9597	10	0.87932	D	0	.	18.7702	0.91888	0.0:1.0:0.0:0.0	.	403;442;442	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	442;403	ENSP00000256646:C442S	ENSP00000256646:C442S	C	-	2	0	NOTCH2	120311707	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	7.487000	0.81328	2.672000	0.90937	0.650000	0.86243	TGT		PASS	0.473	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		19	55	19	55	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144952248	144952248	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:144952248G>A	ENST00000369354.3	-	4	660	c.471C>T	c.(469-471)gaC>gaT	p.D157D	PDE4DIP_ENST00000369348.3_Silent_p.D294D|PDE4DIP_ENST00000369351.3_Silent_p.D157D|PDE4DIP_ENST00000530740.1_Silent_p.D294D|PDE4DIP_ENST00000313382.9_Silent_p.D223D|PDE4DIP_ENST00000369347.4_Silent_p.D157D|PDE4DIP_ENST00000369349.3_Silent_p.D157D|PDE4DIP_ENST00000369359.4_Silent_p.D294D|PDE4DIP_ENST00000369356.4_Silent_p.D157D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	157					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.D157D(2)|p.D294D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTGACCTGGTCTCCTGGTA	0.547			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - coding silent(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(469-471)GAC>GAT		phosphodiesterase 4D interacting protein isoform							69.0	74.0	72.0					1																	144952248		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144952248G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.471C>T	1.37:g.144952248G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.D223D|PDE4DIP_uc001emc.1_Silent_p.D157D|PDE4DIP_uc001emd.1_Silent_p.D157D|PDE4DIP_uc001emg.1_Silent_p.D157D|PDE4DIP_uc001emh.2_Silent_p.D294D	p.D157D	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	762	-			157					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.471C>T	CCDS30824.1																																																																																				PASS	0.547	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	63	4	63	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145416841	145416841	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:145416841C>T	ENST00000336751.5	+	4	1424	c.1186C>T	c.(1186-1188)Ctc>Ttc	p.L396F	HFE2_ENST00000475797.1_Missense_Mutation_p.L170F|HFE2_ENST00000497365.1_Missense_Mutation_p.L170F|HFE2_ENST00000357836.5_Missense_Mutation_p.L283F	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	396					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.L396F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAAGCTGCATCTCTTCCCCTC	0.517																																						uc001eni.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1186-1188)CTC>TTC		hemojuvelin isoform a precursor							117.0	101.0	106.0					1																	145416841		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145416841C>T	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.1186C>T	1.37:g.145416841C>T	ENSP00000337014:p.Leu396Phe					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.L170F|HFE2_uc001enk.2_Missense_Mutation_p.L283F|HFE2_uc001enl.2_Missense_Mutation_p.L170F	p.L396F	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			4	1511	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		396					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.1186C>T	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098578	0.56183	.	.	ENSG00000168509	ENST00000357836;ENST00000336751;ENST00000497365;ENST00000475797	D;D;D;D	0.94457	-3.05;-3.43;-1.54;-1.54	5.33	4.4	0.53042	Repulsive guidance molecule, C-terminal (1);	0.151982	0.43919	D	0.000504	D	0.92080	0.7490	L	0.57536	1.79	0.41433	D	0.987871	P	0.47841	0.901	P	0.50314	0.637	D	0.92561	0.6058	10	0.87932	D	0	-5.0497	8.7549	0.34639	0.1713:0.6633:0.1654:0.0	.	396	Q6ZVN8	RGMC_HUMAN	F	283;396;170;170	ENSP00000350495:L283F;ENSP00000337014:L396F;ENSP00000421820:L170F;ENSP00000425716:L170F	ENSP00000337014:L396F	L	+	1	0	HFE2	144128198	0.000000	0.05858	0.907000	0.35723	0.906000	0.53458	-0.187000	0.09656	1.437000	0.47472	0.655000	0.94253	CTC		PASS	0.517	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		16	24	16	24	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145579331	145579331	+	Splice_Site	SNP	C	C	T	rs140039049	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:145579331C>T	ENST00000393045.2	+	5	758	c.668C>T	c.(667-669)cCg>cTg	p.P223L	PIAS3_ENST00000369298.1_Splice_Site_p.P188L|PIAS3_ENST00000369299.3_Splice_Site_p.P214L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	223	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.P223L(1)|p.P214L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCCCCTGCCGGTAAATGCT	0.468																																						uc001eoc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(667-669)CCG>CTG		protein inhibitor of activated STAT, 3		C	LEU/PRO	0,4406		0,0,2203	119.0	116.0	117.0		668	4.3	1.0	1	dbSNP_134	117	3,8597	3.0+/-9.4	0,3,4297	yes	missense-near-splice	PIAS3	NM_006099.3	98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	223/629	145579331	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145579331C>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.669+1C>T	1.37:g.145579331C>T						NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.P214L|PIAS3_uc001eod.1_5'Flank	p.P223L	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			5	759	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		223			PINIT.		Q9UFI3	Missense_Mutation	SNP	ENST00000393045.2	37	c.668C>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812142	0.90707	0.0	3.49E-4	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.34	4.34	0.51931	PINIT domain (1);	0.000000	0.50627	D	0.000112	T	0.63651	0.2529	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69997	-0.4993	10	0.87932	D	0	-12.876	14.4167	0.67155	0.0:1.0:0.0:0.0	.	214;223	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	L	214;214;223;188	ENSP00000376766:P214L;ENSP00000358305:P214L;ENSP00000376765:P223L;ENSP00000358304:P188L	ENSP00000358304:P188L	P	+	2	0	PIAS3	144290688	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.620000	0.83070	2.241000	0.73720	0.655000	0.94253	CCG		PASS	0.468	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099	Missense_Mutation	18	65	18	65	---	---	---	---
FMO5	2330	broad.mit.edu	37	1	146658808	146658808	+	Missense_Mutation	SNP	G	G	T	rs199847833		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:146658808G>T	ENST00000254090.4	-	9	1661	c.1273C>A	c.(1273-1275)Cgc>Agc	p.R425S	RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	425						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.R425S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATGGTATGGCGTTGGCTCTCC	0.473																																						uc001epi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1273-1275)CGC>AGC		flavin containing monooxygenase 5 isoform 1							55.0	53.0	54.0					1																	146658808		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146658808G>T	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1273C>A	1.37:g.146658808G>T	ENSP00000254090:p.Arg425Ser					FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR	p.R425S	NM_001461	NP_001452	P49326	FMO5_HUMAN			9	1662	-	all_hematologic(923;0.0487)		425					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.1273C>A	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302761	0.40795	.	.	ENSG00000131781	ENST00000254090	T	0.58506	0.33	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.61387	1.9	0.80722	D	1	D	0.53745	0.962	P	0.59948	0.866	T	0.59273	-0.7485	10	0.33141	T	0.24	-14.693	17.5569	0.87894	0.0:0.0:1.0:0.0	.	425	P49326	FMO5_HUMAN	S	425	ENSP00000254090:R425S	ENSP00000254090:R425S	R	-	1	0	FMO5	145125432	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.727000	0.47311	2.735000	0.93741	0.655000	0.94253	CGC		PASS	0.473	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		7	23	7	23	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146757105	146757105	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:146757105G>A	ENST00000369258.4	+	17	1979	c.1959G>A	c.(1957-1959)aaG>aaA	p.K653K	CHD1L_ENST00000361293.5_Silent_p.K372K|CHD1L_ENST00000431239.1_Silent_p.K559K|CHD1L_ENST00000369259.3_Silent_p.K449K|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	653					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.K653K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGCTGCCAAGAGAAGGAGAC	0.493																																						uc001epm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(1957-1959)AAG>AAA		chromodomain helicase DNA binding protein							158.0	155.0	156.0					1																	146757105		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146757105G>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1959G>A	1.37:g.146757105G>A						uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.K540K|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.K559K|CHD1L_uc010ozp.1_Silent_p.K372K|CHD1L_uc001epo.3_Silent_p.K449K|CHD1L_uc010ozq.1_Silent_p.K226K|CHD1L_uc009wji.2_Silent_p.K372K	p.K653K	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			17	2022	+	all_hematologic(923;0.0487)		653			Potential.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.1959G>A	CCDS927.1																																																																																				PASS	0.493	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		37	132	37	132	---	---	---	---
GJA8	2703	broad.mit.edu	37	1	147380281	147380281	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:147380281G>A	ENST00000369235.1	+	1	199	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GJA8_ENST00000240986.4_Missense_Mutation_p.D67N			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	67			D -> G (in CTRCT1). {ECO:0000269|PubMed:23508780}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.D67N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTCTGCTACGACGAGGCCTT	0.612																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(199-201)GAC>AAC		connexin 50							145.0	112.0	123.0					1																	147380281		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380281G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.199G>A	1.37:g.147380281G>A	ENSP00000358238:p.Asp67Asn						p.D67N	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	262	+	all_hematologic(923;0.0276)		67			Extracellular (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.199G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	31	5.087785	0.94100	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99409	-5.85;-5.85	5.2	5.2	0.72013	Connexin, conserved site (1);Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99282	1.0896	10	0.87932	D	0	.	18.721	0.91692	0.0:0.0:1.0:0.0	.	67	P48165	CXA8_HUMAN	N	67	ENSP00000240986:D67N;ENSP00000358238:D67N	ENSP00000240986:D67N	D	+	1	0	GJA8	145846905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.941000	0.87700	2.409000	0.81822	0.491000	0.48974	GAC		PASS	0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		29	43	29	43	---	---	---	---
SV2A	9900	broad.mit.edu	37	1	149884930	149884930	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:149884930T>G	ENST00000369146.3	-	2	953	c.463A>C	c.(463-465)Atc>Ctc	p.I155L	SV2A_ENST00000369145.1_Missense_Mutation_p.I155L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	155					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.I155L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCCCGTAGGATGGCTTCATAC	0.607																																						uc001etg.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(463-465)ATC>CTC		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						114.0	114.0	114.0					1																	149884930		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884930T>G	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.463A>C	1.37:g.149884930T>G	ENSP00000358142:p.Ile155Leu					SV2A_uc001eth.2_Missense_Mutation_p.I155L	p.I155L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	954	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		155			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.463A>C	CCDS940.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694166	0.68386	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.58060	0.36;0.36	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.82517	2.595	0.58432	D	0.999994	D	0.63046	0.992	D	0.71184	0.972	T	0.73129	-0.4080	10	0.62326	D	0.03	-23.598	13.8274	0.63359	0.0:0.0:0.0:1.0	.	155	Q7L0J3	SV2A_HUMAN	L	155	ENSP00000358142:I155L;ENSP00000358141:I155L	ENSP00000358141:I155L	I	-	1	0	SV2A	148151554	1.000000	0.71417	0.972000	0.41901	0.585000	0.36419	6.127000	0.71642	2.048000	0.60808	0.455000	0.32223	ATC		PASS	0.607	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			16	19	16	19	---	---	---	---
MTMR11	10903	broad.mit.edu	37	1	149902774	149902774	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:149902774G>A	ENST00000439741.2	-	14	1624	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	MTMR11_ENST00000369140.3_Silent_p.F386F|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000361405.6_Missense_Mutation_p.S256F	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	458	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.F386F(1)|p.F458F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAGCAAGAAGGAAAAACTCAG	0.493																																						uc001etl.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1372-1374)TTC>TTT		myotubularin related protein 11 isoform a							40.0	44.0	43.0					1																	149902774		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149902774G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1374C>T	1.37:g.149902774G>A						SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Silent_p.F386F|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	p.F458F	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		14	1625	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		458			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1374C>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128839	0.56721	.	.	ENSG00000014914	ENST00000361405	T	0.50001	0.76	5.16	-0.129	0.13502	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	6	0.66056	D	0.02	.	6.5647	0.22505	0.287:0.1194:0.5936:0.0	.	.	.	.	F	256	ENSP00000354941:S256F	ENSP00000354941:S256F	S	-	2	0	MTMR11	148169398	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.512000	0.45485	0.058000	0.16222	-0.175000	0.13238	TCC		PASS	0.493	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	15	16	15	---	---	---	---
ARNT	405	broad.mit.edu	37	1	150784532	150784532	+	Missense_Mutation	SNP	G	G	A	rs200078254		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150784532G>A	ENST00000358595.5	-	22	2535	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S	ARNT_ENST00000515192.1_Missense_Mutation_p.P765S|ARNT_ENST00000505755.1_Missense_Mutation_p.P764S|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000354396.2_Missense_Mutation_p.P777S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	779					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P779S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTAGATCAGGGAATTCTTCA	0.403			T	ETV6	AML																																	uc001evr.1				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(2335-2337)CCT>TCT		aryl hydrocarbon receptor nuclear translocator							84.0	82.0	83.0					1																	150784532		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150784532G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2335C>T	1.37:g.150784532G>A	ENSP00000351407:p.Pro779Ser					ARNT_uc010pck.1_Missense_Mutation_p.P267S|ARNT_uc001evs.1_Missense_Mutation_p.P764S|ARNT_uc009wmb.1_Missense_Mutation_p.P765S|ARNT_uc009wmc.1_Missense_Mutation_p.P777S|ARNT_uc009wmd.1_Missense_Mutation_p.P763S	p.P779S	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	2478	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		779					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.2335C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561289	0.27915	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.04317	3.76;3.7;3.76;3.65	5.2	5.2	0.72013	.	0.133504	0.53938	D	0.000043	T	0.01800	0.0057	L	0.29908	0.895	0.35628	D	0.809965	B;B;B;B;B	0.24651	0.028;0.065;0.065;0.065;0.108	B;B;B;B;B	0.23275	0.014;0.044;0.044;0.044;0.045	T	0.49725	-0.8909	10	0.31617	T	0.26	.	12.138	0.53982	0.0784:0.0:0.9216:0.0	.	763;777;765;764;779	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	S	779;777;765;730;764	ENSP00000351407:P779S;ENSP00000346372:P777S;ENSP00000423851:P765S;ENSP00000427571:P764S	ENSP00000346372:P777S	P	-	1	0	ARNT	149051156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.997000	0.63921	2.441000	0.82636	0.655000	0.94253	CCT		PASS	0.403	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			13	35	13	35	---	---	---	---
ARNT	405	broad.mit.edu	37	1	150790443	150790443	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150790443G>A	ENST00000358595.5	-	15	1658	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	ARNT_ENST00000515192.1_Silent_p.P472P|ARNT_ENST00000505755.1_Silent_p.P471P|ARNT_ENST00000354396.2_Silent_p.P486P	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	486					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P486P(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATTAGCTGTGGGACCTAGTT	0.522			T	ETV6	AML																																	uc001evr.1				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9						c.(1456-1458)CCC>CCT		aryl hydrocarbon receptor nuclear translocator							113.0	106.0	108.0					1																	150790443		2203	4300	6503	SO:0001819	synonymous_variant	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150790443G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1458C>T	1.37:g.150790443G>A						ARNT_uc010pck.1_5'Flank|ARNT_uc001evs.1_Silent_p.P471P|ARNT_uc009wmb.1_Silent_p.P472P|ARNT_uc009wmc.1_Silent_p.P486P|ARNT_uc009wmd.1_Silent_p.P471P|ARNT_uc009wme.1_3'UTR	p.P486P	NM_001668	NP_001659	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	1601	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		486					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Silent	SNP	ENST00000358595.5	37	c.1458C>T	CCDS970.1																																																																																				PASS	0.522	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			6	13	6	13	---	---	---	---
ANXA9	8416	broad.mit.edu	37	1	150958867	150958867	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150958867G>A	ENST00000368947.4	+	8	1004	c.528G>A	c.(526-528)caG>caA	p.Q176Q		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	176					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.Q176Q(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCTTGCAGGACCTGCTGT	0.572																																						uc001ewa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(526-528)CAG>CAA		annexin A9							75.0	63.0	67.0					1																	150958867		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150958867G>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.528G>A	1.37:g.150958867G>A							p.Q176Q	NM_003568	NP_003559	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	998	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		176			Annexin 2.		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.528G>A	CCDS975.2																																																																																				PASS	0.572	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		18	13	18	13	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150971880	150971880	+	Nonsense_Mutation	SNP	G	G	A	rs150431391		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150971880G>A	ENST00000361936.5	-	8	1900	c.946C>T	c.(946-948)Cga>Tga	p.R316*	FAM63A_ENST00000312210.5_Nonsense_Mutation_p.R174*|FAM63A_ENST00000470877.1_5'Flank|FAM63A_ENST00000493834.2_Nonsense_Mutation_p.R221*|FAM63A_ENST00000361738.6_Nonsense_Mutation_p.R364*	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	316						extracellular vesicular exosome (GO:0070062)		p.R316*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGTTGTTTCGGAAAAAGACG	0.547																																						uc001ewf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(946-948)CGA>TGA		hypothetical protein LOC55793 isoform 1		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	203.0	194.0	197.0		520,1090,661,520,946	5.1	1.0	1	dbSNP_134	197	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	FAM63A	NM_001040217.2,NM_001163258.1,NM_001163259.1,NM_001163260.1,NM_018379.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	174/328,364/518,221/375,174/328,316/470	150971880	1,13005	2203	4300	6503	SO:0001587	stop_gained	55793						protein binding	g.chr1:150971880G>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.946C>T	1.37:g.150971880G>A	ENSP00000354814:p.Arg316*					FAM63A_uc001ewc.2_Nonsense_Mutation_p.R174*|FAM63A_uc010pcm.1_Nonsense_Mutation_p.R221*|FAM63A_uc001ewd.2_Nonsense_Mutation_p.R174*|FAM63A_uc001ewe.2_Nonsense_Mutation_p.R150*|FAM63A_uc010pcn.1_Nonsense_Mutation_p.R364*|FAM63A_uc001ewg.2_Nonsense_Mutation_p.R316*	p.R316*	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	2630	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		316					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Nonsense_Mutation	SNP	ENST00000361936.5	37	c.946C>T	CCDS976.1	.	.	.	.	.	.	.	.	.	.	G	40	8.297961	0.98747	0.0	1.16E-4	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1149	11.0918	0.48121	0.0:0.0:0.8156:0.1843	.	.	.	.	X	174;316;364;221	.	ENSP00000310923:R174X	R	-	1	2	FAM63A	149238504	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.970000	0.49240	2.687000	0.91594	0.655000	0.94253	CGA		PASS	0.547	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		53	101	53	101	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150971965	150971965	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150971965C>T	ENST00000361936.5	-	8	1815	c.861G>A	c.(859-861)ctG>ctA	p.L287L	FAM63A_ENST00000312210.5_Silent_p.L145L|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Silent_p.L192L|FAM63A_ENST00000361738.6_Silent_p.L335L	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	287				L -> P (in Ref. 2; BAA92104). {ECO:0000305}.		extracellular vesicular exosome (GO:0070062)		p.L287L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGTGGTCTCCAGGAACTGCT	0.552																																						uc001ewf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(859-861)CTG>CTA		hypothetical protein LOC55793 isoform 1							135.0	132.0	133.0					1																	150971965		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150971965C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.861G>A	1.37:g.150971965C>T						FAM63A_uc001ewc.2_Silent_p.L145L|FAM63A_uc010pcm.1_Silent_p.L192L|FAM63A_uc001ewd.2_Silent_p.L145L|FAM63A_uc001ewe.2_Silent_p.L121L|FAM63A_uc010pcn.1_Silent_p.L335L|FAM63A_uc001ewg.2_Silent_p.L287L	p.L287L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	2545	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		287	L -> P (in Ref. 2; BAA92104).				B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.861G>A	CCDS976.1																																																																																				PASS	0.552	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		47	62	47	62	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150971968	150971968	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:150971968G>A	ENST00000361936.5	-	8	1812	c.858C>T	c.(856-858)ttC>ttT	p.F286F	FAM63A_ENST00000312210.5_Silent_p.F144F|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Silent_p.F191F|FAM63A_ENST00000361738.6_Silent_p.F334F	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	286						extracellular vesicular exosome (GO:0070062)		p.F286F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGTCTCCAGGAACTGCTCTG	0.557																																						uc001ewf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(856-858)TTC>TTT		hypothetical protein LOC55793 isoform 1							132.0	129.0	130.0					1																	150971968		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150971968G>A	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.858C>T	1.37:g.150971968G>A						FAM63A_uc001ewc.2_Silent_p.F144F|FAM63A_uc010pcm.1_Silent_p.F191F|FAM63A_uc001ewd.2_Silent_p.F144F|FAM63A_uc001ewe.2_Silent_p.F120F|FAM63A_uc010pcn.1_Silent_p.F334F|FAM63A_uc001ewg.2_Silent_p.F286F	p.F286F	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	2542	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		286					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.858C>T	CCDS976.1																																																																																				PASS	0.557	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		19	89	19	89	---	---	---	---
BNIPL	149428	broad.mit.edu	37	1	151015542	151015542	+	Nonsense_Mutation	SNP	C	C	T	rs141131792		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151015542C>T	ENST00000368931.3	+	5	700	c.544C>T	c.(544-546)Cga>Tga	p.R182*	BNIPL_ENST00000295294.7_Nonsense_Mutation_p.R100*	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	182					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R182*(1)|p.R100*(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGGTGTTCCGAATGGGACC	0.542																																						uc001ewl.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(544-546)CGA>TGA		BCL2/adenovirus E1B 19kD interacting protein		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	160.0	140.0	147.0		298,544	5.3	1.0	1	dbSNP_134	147	0,8600		0,0,4300	no	stop-gained,stop-gained	BNIPL	NM_001159642.1,NM_138278.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	100/276,182/358	151015542	1,13005	2203	4300	6503	SO:0001587	stop_gained	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151015542C>T	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.544C>T	1.37:g.151015542C>T	ENSP00000357927:p.Arg182*					BNIPL_uc009wmi.2_Nonsense_Mutation_p.R100*|BNIPL_uc009wmj.2_RNA	p.R182*	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	717	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		182					Q6DK43|Q8TCY7|Q8WYG2	Nonsense_Mutation	SNP	ENST00000368931.3	37	c.544C>T	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644582	0.47258	2.27E-4	0.0	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	.	.	.	5.3	5.3	0.74995	.	0.678240	0.15053	N	0.283180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5126	0.84290	0.0:1.0:0.0:0.0	.	.	.	.	X	182;180;100;100	.	ENSP00000295294:R100X	R	+	1	2	BNIPL	149282166	0.649000	0.27322	1.000000	0.80357	0.512000	0.34134	1.258000	0.32944	2.507000	0.84556	0.505000	0.49811	CGA		PASS	0.542	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		12	33	12	33	---	---	---	---
SCNM1	79005	broad.mit.edu	37	1	151141495	151141495	+	Missense_Mutation	SNP	G	G	T	rs139584849	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151141495G>T	ENST00000368905.4	+	7	738	c.627G>T	c.(625-627)tgG>tgT	p.W209C		NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	209	Required for interaction with LUC7L2. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.W209C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGTCGATGGGTAAAAGATG	0.428																																						uc001ewz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(625-627)TGG>TGT		sodium channel modifier 1							245.0	205.0	218.0					1																	151141495		2203	4300	6503	SO:0001583	missense	79005				mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding	g.chr1:151141495G>T	BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.627G>T	1.37:g.151141495G>T	ENSP00000357901:p.Trp209Cys					SCNM1_uc009wmn.2_RNA	p.W209C	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	739	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		209					B4DWR1|Q5JR74	Missense_Mutation	SNP	ENST00000368905.4	37	c.627G>T	CCDS987.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476926	0.84640	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77867	-0.2428	9	0.87932	D	0	-15.2508	16.3108	0.82869	0.0:0.0:1.0:0.0	.	209	Q9BWG6	SCNM1_HUMAN	C	209;174	.	ENSP00000357898:W174C	W	+	3	0	SCNM1	149408119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.674000	0.91191	2.690000	0.91761	0.555000	0.69702	TGG		PASS	0.428	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2	NM_024041		5	78	5	78	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151209235	151209235	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151209235G>A	ENST00000368888.4	+	9	1563	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.D368N|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.D369N|PIP5K1A_ENST00000414290.2_Missense_Mutation_p.D82N|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.D369N	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	381	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.D381N(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGACTGATGACCAGTAAGT	0.483																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1141-1143)GAC>AAC		phosphatidylinositol-4-phosphate 5-kinase, type							26.0	28.0	27.0					1																	151209235		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151209235G>A	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1141G>A	1.37:g.151209235G>A	ENSP00000357883:p.Asp381Asn					PIP5K1A_uc001exi.2_Missense_Mutation_p.D368N|PIP5K1A_uc010pcu.1_Missense_Mutation_p.D369N|PIP5K1A_uc001exk.2_Missense_Mutation_p.D368N|PIP5K1A_uc010pcv.1_Missense_Mutation_p.D138N	p.D381N	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1593	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		381			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.1141G>A	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674739	0.88445	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000414290	T;T;T;T;T;T	0.35789	1.29;1.29;1.33;1.29;1.29;1.29	4.2	4.2	0.49525	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.109679	0.64402	D	0.000013	T	0.46347	0.1388	M	0.72479	2.2	0.80722	D	1	P;B;D;B;D	0.76494	0.531;0.179;0.999;0.215;0.999	B;B;D;B;D	0.73708	0.398;0.17;0.957;0.135;0.981	T	0.36939	-0.9727	10	0.15499	T	0.54	.	16.7113	0.85386	0.0:0.0:1.0:0.0	.	82;369;368;381;368	B4DY52;Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;.;PI51A_HUMAN;.	N	368;369;369;368;381;82	ENSP00000271663:D368N;ENSP00000386432:D369N;ENSP00000415648:D369N;ENSP00000357885:D368N;ENSP00000357883:D381N;ENSP00000388800:D82N	ENSP00000271663:D368N	D	+	1	0	PIP5K1A	149475859	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	9.448000	0.97600	2.351000	0.79841	0.460000	0.39030	GAC		PASS	0.483	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		5	15	5	15	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151278830	151278830	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151278830G>A	ENST00000368873.1	-	5	1360	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	PI4KB_ENST00000529142.1_Silent_p.L66L|PI4KB_ENST00000271657.5_Silent_p.L410L|PI4KB_ENST00000368872.1_Silent_p.L383L|PI4KB_ENST00000368875.2_Silent_p.L410L|PI4KB_ENST00000368874.4_Silent_p.L383L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	398					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L410L(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACATAAATCAGGTAGGGAGCC	0.493																																					Colon(154;765 1838 9854 28443 37492)	uc001ext.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1192-1194)CTG>TTG		catalytic phosphatidylinositol 4-kinase beta							43.0	42.0	43.0					1																	151278830		2203	4300	6503	SO:0001819	synonymous_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151278830G>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1192C>T	1.37:g.151278830G>A						PI4KB_uc001exr.2_Silent_p.L410L|PI4KB_uc001exs.2_Silent_p.L383L|PI4KB_uc001exu.2_Silent_p.L383L|PI4KB_uc010pcw.1_Silent_p.L66L	p.L398L	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	1607	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		398					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.1192C>T																																																																																					PASS	0.493	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		5	21	5	21	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151502589	151502589	+	Missense_Mutation	SNP	G	G	A	rs41272459	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151502589G>A	ENST00000271636.7	+	12	2444	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	765	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.E771K(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCGGCTGGAGGTCAGTGG	0.582													G|||	7	0.00139776	0.0	0.0	5008	,	,		15539	0.0		0.007	False		,,,				2504	0.0					uc009wmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2311-2313)GAG>AAG		cingulin		G	LYS/GLU	11,4395	15.5+/-35.6	0,11,2192	65.0	65.0	65.0		2311	5.3	1.0	1	dbSNP_127	65	102,8498	55.2+/-116.2	0,102,4198	yes	missense	CGN	NM_020770.2	56	0,113,6390	AA,AG,GG		1.186,0.2497,0.8688	probably-damaging	771/1204	151502589	113,12893	2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151502589G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2311G>A	1.37:g.151502589G>A	ENSP00000271636:p.Glu771Lys						p.E771K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		12	2455	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		765			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2311G>A	CCDS999.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	32	5.139572	0.94560	0.002497	0.01186	ENSG00000143375	ENST00000271636	T	0.68025	-0.3	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	M	0.67953	2.075	0.58432	D	0.99999	D	0.69078	0.997	D	0.75020	0.985	T	0.77509	-0.2561	10	0.52906	T	0.07	-27.8451	17.4484	0.87585	0.0:0.0:1.0:0.0	rs41272459	765	Q9P2M7	CING_HUMAN	K	771	ENSP00000271636:E771K	ENSP00000271636:E771K	E	+	1	0	CGN	149769213	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.914000	0.75764	2.439000	0.82584	0.563000	0.77884	GAG		PASS	0.582	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		8	22	8	22	---	---	---	---
TUFT1	7286	broad.mit.edu	37	1	151553518	151553518	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151553518G>T	ENST00000368849.3	+	12	1171	c.1109G>T	c.(1108-1110)aGt>aTt	p.S370I	TUFT1_ENST00000538902.1_Splice_Site_p.S389I|TUFT1_ENST00000353024.3_Splice_Site_p.S311I|TUFT1_ENST00000368848.2_Splice_Site_p.S345I|TUFT1_ENST00000392712.3_Splice_Site_p.S315I	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	370					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.S370I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACCCGGGCAGGTGAGTGAGC	0.527																																						uc001eyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1108-1110)AGT>ATT		tuftelin 1 isoform 1							46.0	47.0	47.0					1																	151553518		2203	4300	6503	SO:0001630	splice_region_variant	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151553518G>T	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1109+1G>T	1.37:g.151553518G>T						TUFT1_uc001eym.2_Missense_Mutation_p.S345I|TUFT1_uc010pdf.1_Missense_Mutation_p.S389I|TUFT1_uc010pdg.1_Missense_Mutation_p.S318I	p.S370I	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		12	1171	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		370					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.1109G>T	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031559	0.54790	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.19669	2.16;2.19;2.17;2.17;2.13	4.96	4.96	0.65561	.	0.160450	0.56097	D	0.000028	T	0.23688	0.0573	L	0.44542	1.39	0.42219	D	0.991844	D;D;D	0.61697	0.99;0.969;0.969	P;P;P	0.61201	0.885;0.777;0.777	T	0.00523	-1.1690	10	0.38643	T	0.18	-5.449	13.5689	0.61834	0.0:0.0:1.0:0.0	.	389;345;370	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	I	370;315;311;345;389	ENSP00000357842:S370I;ENSP00000376476:S315I;ENSP00000343781:S311I;ENSP00000357841:S345I;ENSP00000437997:S389I	ENSP00000343781:S311I	S	+	2	0	TUFT1	149820142	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.267000	0.58877	2.566000	0.86566	0.655000	0.94253	AGT		PASS	0.527	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127	Missense_Mutation	4	31	4	31	---	---	---	---
CELF3	11189	broad.mit.edu	37	1	151677575	151677575	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:151677575C>T	ENST00000290583.4	-	12	2133	c.1340G>A	c.(1339-1341)gGc>gAc	p.G447D	CELF3_ENST00000392706.3_Missense_Mutation_p.G242D|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.G397D|CELF3_ENST00000470688.1_5'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	447	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G447D(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GCGCTTCATGCCGATCTGGAA	0.642																																						uc001eys.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1339-1341)GGC>GAC		trinucleotide repeat containing 4							67.0	64.0	65.0					1																	151677575		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151677575C>T	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1340G>A	1.37:g.151677575C>T	ENSP00000290583:p.Gly447Asp					CELF3_uc010pdh.1_Missense_Mutation_p.G233D|CELF3_uc001eyr.2_Missense_Mutation_p.G446D|CELF3_uc009wmy.2_Missense_Mutation_p.G397D|CELF3_uc009wmx.1_Missense_Mutation_p.G446D	p.G447D	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN			12	2134	-			447			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1340G>A	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	33|33	5.194372|5.194372	0.94960|0.94960	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000392706	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.12637|0.12637	0.245|0.245	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D	.|0.89917	.|0.587;1.0;1.0;1.0;1.0	.|P;D;D;D;D	.|0.97110	.|0.672;1.0;1.0;1.0;0.999	T|T	0.16958|0.16958	-1.0385|-1.0385	5|10	.|0.87932	.|D	.|0	-18.8579|-18.8579	16.0785|16.0785	0.80982|0.80982	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242;397;446;447;446	.|B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	T|D	448|397;447;242	.|ENSP00000290585:G397D;ENSP00000290583:G447D;ENSP00000376470:G242D	.|ENSP00000290583:G447D	A|G	-|-	1|2	0|0	CELF3|CELF3	149944199|149944199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GCA|GGC		PASS	0.642	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		11	20	11	20	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058447	152058447	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152058447C>T	ENST00000368806.1	-	3	1775	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	571							calcium ion binding (GO:0005509)	p.G571R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGAGTCCCCTTGCACAGGC	0.522																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1711-1713)GGG>AGG		trichohyalin-like 1							151.0	148.0	149.0					1																	152058447		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058447C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1711G>A	1.37:g.152058447C>T	ENSP00000357796:p.Gly571Arg						p.G571R	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		571					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1711G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	6.339	0.430706	0.12045	.	.	ENSG00000182898	ENST00000368806	T	0.23950	1.88	5.3	-0.698	0.11280	.	0.643829	0.12895	N	0.430296	T	0.06462	0.0166	L	0.50333	1.59	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.40289	-0.9571	10	0.19147	T	0.46	0.1707	5.3885	0.16231	0.0:0.4797:0.146:0.3743	.	571	Q5QJ38	TCHL1_HUMAN	R	571	ENSP00000357796:G571R	ENSP00000357796:G571R	G	-	1	0	TCHHL1	150325071	0.004000	0.15560	0.001000	0.08648	0.037000	0.13140	0.100000	0.15231	-0.022000	0.13986	0.655000	0.94253	GGG		PASS	0.522	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		22	59	22	59	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152058776	152058776	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152058776C>T	ENST00000368806.1	-	3	1446	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	461							calcium ion binding (GO:0005509)	p.G461E(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GACTGCTGTTCCTTCAAGTTC	0.458																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1381-1383)GGA>GAA		trichohyalin-like 1							246.0	228.0	234.0					1																	152058776		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058776C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1382G>A	1.37:g.152058776C>T	ENSP00000357796:p.Gly461Glu						p.G461E	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1447	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		461					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1382G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	9.131	1.011507	0.19277	.	.	ENSG00000182898	ENST00000368806	T	0.23754	1.89	5.18	1.16	0.20824	.	0.568751	0.14747	N	0.300801	T	0.03520	0.0101	L	0.29908	0.895	0.09310	N	1	P	0.37781	0.608	B	0.33568	0.166	T	0.40213	-0.9575	10	0.02654	T	1	-2.584	7.0413	0.25021	0.0:0.614:0.0:0.386	.	461	Q5QJ38	TCHL1_HUMAN	E	461	ENSP00000357796:G461E	ENSP00000357796:G461E	G	-	2	0	TCHHL1	150325400	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.044000	0.12023	-0.037000	0.13646	0.650000	0.86243	GGA		PASS	0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		21	73	21	73	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188180	152188180	+	Silent	SNP	G	G	A	rs148177357		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152188180G>A	ENST00000368801.2	-	3	6000	c.5925C>T	c.(5923-5925)tcC>tcT	p.S1975S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1975					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1975S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGGCTGGAAGACCACC	0.597																																						uc001ezt.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(5923-5925)TCC>TCT		hornerin							228.0	389.0	335.0					1																	152188180		2182	4292	6474	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188180G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5925C>T	1.37:g.152188180G>A							p.S1975S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6001	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1975			22.		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5925C>T	CCDS30859.1																																																																																				PASS	0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		20	498	20	498	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276621	152276621	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152276621G>A	ENST00000368799.1	-	3	10776	c.10741C>T	c.(10741-10743)Cat>Tat	p.H3581Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3581	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.H3581Y(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)			TCTTCGTGATGGGACGTGGGG	0.557									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10741-10743)CAT>TAT		filaggrin							137.0	218.0	191.0					1																	152276621		2186	4293	6479	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.chr1:152276621G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10741C>T	1.37:g.152276621G>A	ENSP00000357789:p.His3581Tyr						p.H3581Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10777	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3581			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10741C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.170	1.020953	0.19433	.	.	ENSG00000143631	ENST00000368799	T	0.02032	4.49	2.67	0.35	0.16037	.	.	.	.	.	T	0.00906	0.0030	M	0.72479	2.2	0.09310	N	1	B	0.28128	0.201	B	0.33690	0.168	T	0.48714	-0.9011	9	0.02654	T	1	.	8.069	0.30678	0.0:0.4952:0.5048:0.0	.	3581	P20930	FILA_HUMAN	Y	3581	ENSP00000357789:H3581Y	ENSP00000357789:H3581Y	H	-	1	0	FLG	150543245	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.030000	0.13688	0.427000	0.26145	0.398000	0.26397	CAT		PASS	0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		52	162	52	162	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278894	152278894	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152278894C>T	ENST00000368799.1	-	3	8503	c.8468G>A	c.(8467-8469)gGa>gAa	p.G2823E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2823	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.G2823E(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)			ATCAGACCTTCCCTGGGATGT	0.587									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8467-8469)GGA>GAA		filaggrin							129.0	194.0	172.0					1																	152278894		2156	4279	6435	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.chr1:152278894C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8468G>A	1.37:g.152278894C>T	ENSP00000357789:p.Gly2823Glu						p.G2823E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8504	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2823			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8468G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766773	0.15983	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.07567	3.18	2.21	-1.35	0.09114	.	.	.	.	.	T	0.06781	0.0173	M	0.77820	2.39	0.09310	N	1	D	0.69078	0.997	P	0.52267	0.694	T	0.10520	-1.0626	9	0.62326	D	0.03	.	4.2963	0.10902	0.0:0.3674:0.4714:0.1612	.	2823	P20930	FILA_HUMAN	E	2823;85	ENSP00000357789:G2823E	ENSP00000357786:G85E	G	-	2	0	FLG	150545518	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.217000	0.09253	-0.297000	0.08934	0.306000	0.20318	GGA		PASS	0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	101	63	101	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283957	152283957	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152283957C>T	ENST00000368799.1	-	3	3440	c.3405G>A	c.(3403-3405)agG>agA	p.R1135R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1135	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.R1135R(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)			CAGTGCTGGTCCTGGTCCGCC	0.602									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3403-3405)AGG>AGA		filaggrin							159.0	195.0	183.0					1																	152283957		2203	4296	6499	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283957C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3405G>A	1.37:g.152283957C>T						uc001ezv.2_5'Flank	p.R1135R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3441	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1135			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3405G>A	CCDS30860.1																																																																																				PASS	0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		91	118	91	118	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285383	152285383	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152285383G>T	ENST00000368799.1	-	3	2014	c.1979C>A	c.(1978-1980)cCc>cAc	p.P660H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	660	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.P660H(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)			ATGGGACCTGGGGTGTCTGGA	0.542									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1978-1980)CCC>CAC		filaggrin							244.0	256.0	252.0					1																	152285383		2203	4298	6501	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.chr1:152285383G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1979C>A	1.37:g.152285383G>T	ENSP00000357789:p.Pro660His					uc001ezv.2_5'Flank	p.P660H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2015	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		660			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1979C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	9.047	0.991062	0.18966	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.46	0.132	0.14762	.	.	.	.	.	T	0.01353	0.0044	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.53689	0.732	T	0.48581	-0.9023	9	0.45353	T	0.12	.	3.6503	0.08201	0.1281:0.0:0.434:0.4379	.	660	P20930	FILA_HUMAN	H	660	ENSP00000357789:P660H	ENSP00000357789:P660H	P	-	2	0	FLG	150552007	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.959000	0.29240	0.272000	0.22027	-0.158000	0.13435	CCC		PASS	0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	218	7	218	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325569	152325569	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:152325569C>T	ENST00000388718.5	-	3	4765	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1565					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1565R(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGACCCTGTCTGTGTG	0.488																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4693-4695)GGG>AGG		filaggrin family member 2							271.0	255.0	261.0					1																	152325569		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325569C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4693G>A	1.37:g.152325569C>T	ENSP00000373370:p.Gly1565Arg					uc001ezv.2_Intron	p.G1565R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4766	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1565					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4693G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	3.424	-0.117491	0.06838	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	2.83	-1.91	0.07641	.	.	.	.	.	T	0.04048	0.0113	M	0.69358	2.11	0.09310	N	1	B	0.21753	0.06	B	0.17098	0.017	T	0.40590	-0.9555	9	0.30854	T	0.27	3.1882	3.7659	0.08622	0.0:0.3108:0.412:0.2772	.	1565	Q5D862	FILA2_HUMAN	R	1565	ENSP00000373370:G1565R	ENSP00000373370:G1565R	G	-	1	0	FLG2	150592193	.	.	0.000000	0.03702	0.052000	0.14988	.	.	-0.235000	0.09767	0.297000	0.19635	GGG		PASS	0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		46	97	46	97	---	---	---	---
S100A7A	338324	broad.mit.edu	37	1	153390678	153390678	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:153390678C>T	ENST00000368729.4	+	2	177	c.120C>T	c.(118-120)ttC>ttT	p.F40F	S100A7A_ENST00000368728.2_Silent_p.F40F|S100A7A_ENST00000329256.2_Silent_p.F40F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)	p.F40F(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGAACTTCCCCAATTTCC	0.488																																						uc001fbt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(118-120)TTC>TTT		S100 calcium binding protein A7-like 1							183.0	159.0	167.0					1																	153390678		2203	4300	6503	SO:0001819	synonymous_variant	338324					cytoplasm	calcium ion binding	g.chr1:153390678C>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.120C>T	1.37:g.153390678C>T							p.F40F	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	177	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		40			EF-hand 1.		D3DV38|Q5SY69	Silent	SNP	ENST00000368729.4	37	c.120C>T	CCDS30872.1																																																																																				PASS	0.488	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		19	52	19	52	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153659802	153659802	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:153659802G>A	ENST00000368680.3	+	13	2534	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	688	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.D688N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CAGGGACCTGGACCCAGAGCA	0.557																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2062-2064)GAC>AAC		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						115.0	91.0	99.0					1																	153659802		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659802G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2062G>A	1.37:g.153659802G>A	ENSP00000357669:p.Asp688Asn					NPR1_uc010pdz.1_Missense_Mutation_p.D434N|NPR1_uc010pea.1_Missense_Mutation_p.D166N	p.D688N	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	2483	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		688			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2062G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348049	0.41599	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82081	-1.57	4.09	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.428377	0.24020	N	0.042284	T	0.63082	0.2481	N	0.21097	0.63	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.65286	-0.6205	10	0.52906	T	0.07	.	14.1901	0.65633	0.0:0.0:1.0:0.0	.	167;688	B7Z4Y7;P16066	.;ANPRA_HUMAN	N	688;167	ENSP00000357669:D688N	ENSP00000357669:D688N	D	+	1	0	NPR1	151926426	0.002000	0.14202	0.994000	0.49952	0.859000	0.49053	0.659000	0.24994	2.287000	0.76781	0.455000	0.32223	GAC		PASS	0.557	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		19	19	19	19	---	---	---	---
SLC39A1	27173	broad.mit.edu	37	1	153933221	153933221	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:153933221G>A	ENST00000368623.3	-	3	1087	c.328C>T	c.(328-330)Cca>Tca	p.P110S	SLC39A1_ENST00000356205.4_Missense_Mutation_p.P110S|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.P8S|SLC39A1_ENST00000310483.6_Missense_Mutation_p.P110S|CRTC2_ENST00000368633.1_5'Flank|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.P110S|CRTC2_ENST00000476883.1_5'Flank			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	110					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.P110S(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCTTGCAGTGGGAACTGGAGC	0.537																																						uc001fdh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)CCA>TCA		solute carrier family 39 (zinc transporter),							42.0	38.0	39.0					1																	153933221		2202	4287	6489	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153933221G>A	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.328C>T	1.37:g.153933221G>A	ENSP00000357612:p.Pro110Ser					CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.P110S|SLC39A1_uc001fdj.2_Missense_Mutation_p.P110S|SLC39A1_uc001fdk.2_Missense_Mutation_p.P110S|SLC39A1_uc010pee.1_Missense_Mutation_p.P8S|SLC39A1_uc001fdl.2_Missense_Mutation_p.P110S	p.P110S	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	497	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		110			Helical; (Potential).		B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.328C>T	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181662	0.78677	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.69106	0.3074	M	0.81682	2.555	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.71414	0.952;0.973	T	0.71457	-0.4587	10	0.62326	D	0.03	-14.7109	16.7763	0.85551	0.0:0.0:1.0:0.0	.	8;110	B4DDY7;Q9NY26	.;S39A1_HUMAN	S	110;110;110;110;8;99;110;110;110	ENSP00000348535:P110S;ENSP00000357612:P110S;ENSP00000357610:P110S;ENSP00000309710:P110S;ENSP00000443632:P8S;ENSP00000392950:P110S;ENSP00000392229:P110S;ENSP00000407717:P110S	ENSP00000309710:P110S	P	-	1	0	SLC39A1	152199845	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	9.153000	0.94687	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.537	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		13	13	13	13	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246318	154246318	+	Missense_Mutation	SNP	A	A	G	rs371507235		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:154246318A>G	ENST00000328703.7	+	3	598	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	HAX1_ENST00000532105.1_Start_Codon_SNP_p.M1V|HAX1_ENST00000483970.2_Missense_Mutation_p.M137V|HAX1_ENST00000457918.2_Missense_Mutation_p.M81V	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	129	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|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 from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)	p.M129V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCGGGACTCAATGCTTAAGTA	0.552									Kostmann syndrome																													uc001fes.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)ATG>GTG		HCLS1 associated protein X-1 isoform a		A	VAL/MET,VAL/MET	0,4406		0,0,2203	100.0	106.0	104.0		241,385	5.8	1.0	1		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HAX1	NM_001018837.1,NM_006118.3	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	81/232,129/280	154246318	1,13005	2203	4300	6503	SO:0001583	missense	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246318A>G	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.385A>G	1.37:g.154246318A>G	ENSP00000329002:p.Met129Val					HAX1_uc001fet.2_Missense_Mutation_p.M81V|HAX1_uc010peo.1_Missense_Mutation_p.M137V|HAX1_uc009wou.2_Missense_Mutation_p.M54V|HAX1_uc009wov.2_Missense_Mutation_p.M103V	p.M129V	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	546	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		129			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.385A>G	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706736	0.48412	0.0	1.16E-4	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000532105	T;T;T;T	0.68025	1.14;1.14;1.14;-0.3	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.77820	2.39	0.80722	D	1	B;B;B;B	0.24882	0.013;0.03;0.113;0.037	B;B;B;B	0.26202	0.022;0.03;0.067;0.015	T	0.65393	-0.6179	10	0.87932	D	0	-4.1082	13.4178	0.60979	1.0:0.0:0.0:0.0	.	137;103;81;129	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	V	129;81;137;1	ENSP00000329002:M129V;ENSP00000411448:M81V;ENSP00000435088:M137V;ENSP00000433951:M1V	ENSP00000329002:M129V	M	+	1	0	HAX1	152512942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.929000	0.63455	2.185000	0.69588	0.460000	0.39030	ATG		PASS	0.552	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		27	53	27	53	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154315615	154315615	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:154315615C>A	ENST00000368489.3	+	16	1579	c.1579C>A	c.(1579-1581)Cca>Aca	p.P527T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	513					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P527T(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTCAGTCCCCAGATGAGGG	0.582																																						uc001fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1579-1581)CCA>ACA		ATPase, class I, type 8B, member 2 isoform a							59.0	51.0	53.0					1																	154315615		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154315615C>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1579C>A	1.37:g.154315615C>A	ENSP00000357475:p.Pro527Thr						p.P527T	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		16	1579	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		513			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1579C>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032880	0.93575	.	.	ENSG00000143515	ENST00000368489	T	0.70869	-0.52	5.58	5.58	0.84498	.	0.121454	0.64402	D	0.000020	D	0.91623	0.7353	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	18.7458	0.91792	0.0:1.0:0.0:0.0	.	527	P98198-3	.	T	527	ENSP00000357475:P527T	ENSP00000357475:P527T	P	+	1	0	ATP8B2	152582239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	CCA		PASS	0.582	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		4	23	4	23	---	---	---	---
LENEP	55891	broad.mit.edu	37	1	154966201	154966201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:154966201C>T	ENST00000392487.1	+	1	138	c.118C>T	c.(118-120)Cag>Tag	p.Q40*				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	40					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)	p.Q40*(1)		lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGGCTTCCAGCGGACCCT	0.607																																						uc001fgi.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(118-120)CAG>TAG		lens epithelial protein							81.0	79.0	80.0					1																	154966201		2203	4300	6503	SO:0001587	stop_gained	55891				multicellular organismal development		DNA binding	g.chr1:154966201C>T	AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.118C>T	1.37:g.154966201C>T	ENSP00000376278:p.Gln40*						p.Q40*	NM_018655	NP_061125	Q9Y5L5	LENEP_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	140	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		40					B5BUM1|Q5T1A4	Nonsense_Mutation	SNP	ENST00000392487.1	37	c.118C>T	CCDS1080.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411544	0.83340	.	.	ENSG00000163352	ENST00000392487	.	.	.	5.3	4.38	0.52667	.	0.434403	0.17141	N	0.185422	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-3.1061	10.8863	0.46968	0.0:0.9076:0.0:0.0924	.	.	.	.	X	40	.	ENSP00000357412:Q40X	Q	+	1	0	LENEP	153232825	0.485000	0.25972	0.950000	0.38849	0.980000	0.70556	1.554000	0.36266	1.439000	0.47511	0.655000	0.94253	CAG		PASS	0.607	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385609.2	NM_018655		9	21	9	21	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154988918	154988918	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:154988918C>T	ENST00000368426.3	+	4	1514	c.1377C>T	c.(1375-1377)acC>acT	p.T459T	ZBTB7B_ENST00000535420.1_Silent_p.T459T|ZBTB7B_ENST00000417934.2_Silent_p.T493T|ZBTB7B_ENST00000292176.2_Silent_p.T459T	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	459					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T459T(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGTGCGCACCCGACGGCGCC	0.667																																						uc001fgk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1375-1377)ACC>ACT		zinc finger and BTB domain containing 7B							92.0	77.0	82.0					1																	154988918		2203	4299	6502	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988918C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1377C>T	1.37:g.154988918C>T						ZBTB7B_uc009wpa.2_Silent_p.T459T|ZBTB7B_uc001fgj.3_Silent_p.T493T|ZBTB7B_uc010peq.1_Silent_p.T493T|ZBTB7B_uc001fgl.3_Silent_p.T459T	p.T459T	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1535	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		459					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.1377C>T	CCDS1081.1																																																																																				PASS	0.667	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		10	11	10	11	---	---	---	---
ADAM15	8751	broad.mit.edu	37	1	155029676	155029676	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155029676C>T	ENST00000356955.2	+	12	1262	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	ADAM15_ENST00000531455.1_Silent_p.G397G|ADAM15_ENST00000271836.6_Silent_p.G387G|ADAM15_ENST00000368412.3_Silent_p.G387G|ADAM15_ENST00000359280.4_Silent_p.G387G|ADAM15_ENST00000368410.2_Silent_p.G93G|ADAM15_ENST00000360674.4_Silent_p.G387G|ADAM15_ENST00000368413.1_Splice_Site_p.G93G|ADAM15_ENST00000447332.3_Silent_p.G371G|ADAM15_ENST00000355956.2_Silent_p.G387G|ADAM15_ENST00000449910.2_Silent_p.G387G|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	387	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G387G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCCTACCAGGCCTGAACTTCA	0.642																																						uc001fgr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1159-1161)GGC>GGT		a disintegrin and metalloproteinase domain 15							31.0	35.0	33.0					1																	155029676		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155029676C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1161C>T	1.37:g.155029676C>T						ADAM15_uc001fgq.1_Silent_p.G72G|ADAM15_uc010pet.1_Silent_p.G371G|ADAM15_uc010peu.1_Silent_p.G404G|ADAM15_uc001fgt.1_Silent_p.G387G|ADAM15_uc010pev.1_Silent_p.G397G|ADAM15_uc001fgs.1_Silent_p.G387G|ADAM15_uc001fgu.1_Silent_p.G387G|ADAM15_uc001fgw.1_Silent_p.G387G|ADAM15_uc001fgv.1_Silent_p.G387G|ADAM15_uc001fgx.1_Silent_p.G387G|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	p.G387G	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		12	1262	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		387			Peptidase M12B.|Extracellular (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.1161C>T	CCDS1087.1																																																																																				PASS	0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		9	18	9	18	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155168253	155168253	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155168253G>A	ENST00000368378.3	-	17	2041	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	THBS3_ENST00000541576.1_Missense_Mutation_p.P71L|THBS3_ENST00000541990.1_Missense_Mutation_p.P203L|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.P554L|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	674					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.P674L(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATCGGGACCAGGAGGCACATA	0.537																																						uc001fix.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(2020-2022)CCT>CTT		thrombospondin 3 precursor							172.0	144.0	154.0					1																	155168253		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155168253G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2021C>T	1.37:g.155168253G>A	ENSP00000357362:p.Pro674Leu					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.P665L|THBS3_uc001fiz.2_Missense_Mutation_p.P637L|THBS3_uc001fiy.2_Missense_Mutation_p.P203L|THBS3_uc010pfu.1_Missense_Mutation_p.P554L|THBS3_uc010pfv.1_RNA	p.P674L	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		17	2044	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		674			TSP type-3 7.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2021C>T	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530056	0.85706	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	T;D;T;D	0.97791	-1.42;-4.54;-1.48;-4.5	5.06	5.06	0.68205	.	0.185802	0.37261	N	0.002169	D	0.98448	0.9483	M	0.83384	2.64	0.80722	D	1	P;D;D;D	0.63046	0.873;0.992;0.992;0.992	P;D;P;D	0.64321	0.562;0.924;0.899;0.924	D	0.99023	1.0818	10	0.66056	D	0.02	-10.2282	15.9637	0.79950	0.0:0.0:1.0:0.0	.	554;674;674;674	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	L	674;71;554;203	ENSP00000357362:P674L;ENSP00000444792:P71L;ENSP00000392207:P554L;ENSP00000437353:P203L	ENSP00000357362:P674L	P	-	2	0	THBS3	153434877	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.438000	0.73426	2.631000	0.89168	0.462000	0.41574	CCT		PASS	0.537	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		23	41	23	41	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155449538	155449538	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155449538C>T	ENST00000368346.3	-	3	3762	c.3123G>A	c.(3121-3123)aaG>aaA	p.K1041K	ASH1L_ENST00000392403.3_Silent_p.K1041K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1041					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.K1041K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGTTCCTTTCTTGCTGACAT	0.398																																						uc009wqq.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(3121-3123)AAG>AAA		absent, small, or homeotic 1-like							66.0	68.0	67.0					1																	155449538		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449538C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3123G>A	1.37:g.155449538C>T						ASH1L_uc001fkt.2_Silent_p.K1041K|ASH1L_uc009wqr.1_Silent_p.K1041K	p.K1041K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3603	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1041					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.3123G>A																																																																																					PASS	0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		24	30	24	30	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155450362	155450362	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155450362G>A	ENST00000368346.3	-	3	2938	c.2299C>T	c.(2299-2301)Cct>Tct	p.P767S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P767S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	767					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.P767S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACAAATGAAGGGGGTCCAATG	0.388																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2299-2301)CCT>TCT		absent, small, or homeotic 1-like							134.0	136.0	135.0					1																	155450362		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155450362G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2299C>T	1.37:g.155450362G>A	ENSP00000357330:p.Pro767Ser					ASH1L_uc001fkt.2_Missense_Mutation_p.P767S|ASH1L_uc009wqr.1_Missense_Mutation_p.P767S	p.P767S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	2779	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		767					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2299C>T		.	.	.	.	.	.	.	.	.	.	G	0.013	-1.609216	0.00842	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.86230	-2.09;-2.09	5.38	0.434	0.16539	.	0.336603	0.29152	N	0.012992	T	0.36826	0.0981	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44787	-0.9305	10	0.05721	T	0.95	.	0.3266	0.00312	0.3563:0.1363:0.2427:0.2648	.	767;767	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	767	ENSP00000357330:P767S;ENSP00000376204:P767S	ENSP00000357330:P767S	P	-	1	0	ASH1L	153716986	0.516000	0.26218	0.973000	0.42090	0.993000	0.82548	0.800000	0.27042	-0.082000	0.12640	0.650000	0.86243	CCT		PASS	0.388	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		31	70	31	70	---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155644852	155644852	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155644852G>A	ENST00000295566.4	-	6	581	c.558C>T	c.(556-558)gcC>gcT	p.A186A	YY1AP1_ENST00000438245.2_Silent_p.A120A|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000355499.4_Silent_p.A120A|YY1AP1_ENST00000404643.1_Silent_p.A120A|YY1AP1_ENST00000476093.1_5'UTR|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Silent_p.A120A|YY1AP1_ENST00000368330.2_Silent_p.A120A|YY1AP1_ENST00000368339.5_Silent_p.A258A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000361831.5_Silent_p.A109A|YY1AP1_ENST00000407221.1_Silent_p.A109A|YY1AP1_ENST00000359205.5_Silent_p.A109A|YY1AP1_ENST00000405763.3_Silent_p.A258A|YY1AP1_ENST00000311573.5_Silent_p.A109A|YY1AP1_ENST00000368340.5_Silent_p.A258A	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	186					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A258A(1)|p.A186A(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTTGCAGGTGGCAAGAAGGT	0.428																																						uc001fln.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(556-558)GCC>GCT		YY1-associated protein isoform 2							120.0	119.0	120.0					1																	155644852		2203	4300	6503	SO:0001819	synonymous_variant	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155644852G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.558C>T	1.37:g.155644852G>A						YY1AP1_uc010pgg.1_Intron|YY1AP1_uc010pgh.1_Silent_p.A109A|YY1AP1_uc010pgi.1_Silent_p.A258A|YY1AP1_uc001flh.2_Silent_p.A258A|YY1AP1_uc009wqt.2_Silent_p.A109A|YY1AP1_uc001flk.2_Silent_p.A109A|YY1AP1_uc001fll.2_Silent_p.A120A|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Silent_p.A109A|YY1AP1_uc001fli.2_Silent_p.A120A|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Silent_p.A120A|YY1AP1_uc009wqw.2_Silent_p.A109A|YY1AP1_uc001flo.2_Silent_p.A54A|YY1AP1_uc001flp.2_Silent_p.A120A|YY1AP1_uc010pgj.1_Silent_p.A186A|YY1AP1_uc009wqx.2_Silent_p.A258A|YY1AP1_uc010pgk.1_Silent_p.A258A	p.A186A	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			6	582	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		186					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.558C>T	CCDS1115.1																																																																																				PASS	0.428	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		18	14	18	14	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155883947	155883947	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155883947C>T	ENST00000368321.3	-	14	1833	c.1810G>A	c.(1810-1812)Gct>Act	p.A604T	RIT1_ENST00000368323.3_5'Flank|RIT1_ENST00000539040.1_5'Flank|KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	604							RNA binding (GO:0003723)	p.A604T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGTTGTTTAGCTCGTGGTTGT	0.428																																						uc001fmi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1810-1812)GCT>ACT		hypothetical protein LOC22889							156.0	138.0	144.0					1																	155883947		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155883947C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1810G>A	1.37:g.155883947C>T	ENSP00000357304:p.Ala604Thr					RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR|KIAA0907_uc009wrk.1_Missense_Mutation_p.A461T	p.A604T	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1834	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		604					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1810G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693523	0.48202	.	.	ENSG00000132680	ENST00000368321	.	.	.	5.41	5.41	0.78517	.	0.185582	0.47852	D	0.000204	T	0.34164	0.0888	N	0.19112	0.55	0.80722	D	1	P	0.52061	0.95	P	0.46339	0.513	T	0.06232	-1.0838	9	0.31617	T	0.26	-13.1509	18.9798	0.92751	0.0:1.0:0.0:0.0	.	604	Q7Z7F0	K0907_HUMAN	T	604	.	ENSP00000357304:A604T	A	-	1	0	KIAA0907	154150571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.962000	0.49176	2.821000	0.97095	0.484000	0.47621	GCT		PASS	0.428	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		22	21	22	21	---	---	---	---
SSR2	6746	broad.mit.edu	37	1	155989841	155989841	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:155989841G>A	ENST00000295702.4	-	2	189	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	SSR2_ENST00000496742.1_Silent_p.L40L|SSR2_ENST00000529008.1_Silent_p.L40L|SSR2_ENST00000480567.1_Silent_p.L40L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	40					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L40L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCAAGGTCAGGTCTCGTCCC	0.478																																						uc001fmx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)CTG>TTG		signal sequence receptor, beta precursor							124.0	114.0	117.0					1																	155989841		2203	4300	6503	SO:0001819	synonymous_variant	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989841G>A	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.118C>T	1.37:g.155989841G>A						SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.L59L|SSR2_uc010pgw.1_Silent_p.L59L	p.L40L	NM_003145	NP_003136	P43308	SSRB_HUMAN			2	198	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		40			Lumenal (Potential).		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	c.118C>T	CCDS1126.1																																																																																				PASS	0.478	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		8	32	8	32	---	---	---	---
UBQLN4	56893	broad.mit.edu	37	1	156011382	156011382	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156011382G>A	ENST00000368309.3	-	10	1639	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	516					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.S516F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGGTGAGGAAGTGGGGGC	0.607																																						uc001fna.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1546-1548)TCC>TTC		ataxin-1 ubiquitin-like interacting protein							34.0	35.0	35.0					1																	156011382		2203	4297	6500	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156011382G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1547C>T	1.37:g.156011382G>A	ENSP00000357292:p.Ser516Phe					UBQLN4_uc010pgx.1_Missense_Mutation_p.S496F	p.S516F	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			10	1571	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		516					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.1547C>T	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227209	0.79576	.	.	ENSG00000160803	ENST00000368309	T	0.58060	0.36	4.62	4.62	0.57501	.	0.664439	0.15578	N	0.255085	T	0.41581	0.1165	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.59703	0.65;0.862	T	0.33904	-0.9850	9	.	.	.	-38.7162	16.2356	0.82371	0.0:0.0:1.0:0.0	.	496;516	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	F	516	ENSP00000357292:S516F	.	S	-	2	0	UBQLN4	154278006	1.000000	0.71417	0.548000	0.28192	0.810000	0.45777	6.986000	0.76200	2.408000	0.81797	0.655000	0.94253	TCC		PASS	0.607	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		7	19	7	19	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156526478	156526478	+	Silent	SNP	G	G	A	rs141039819		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156526478G>A	ENST00000361170.2	-	12	1147	c.1137C>T	c.(1135-1137)caC>caT	p.H379H		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	379					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.H379H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGCACAGCGTGGAGCACTG	0.612																																						uc001fpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(1135-1137)CAC>CAT		IQ motif containing GTPase activating protein 3		G		1,4405	2.1+/-5.4	0,1,2202	45.0	39.0	41.0		1137	-0.2	0.9	1	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	IQGAP3	NM_178229.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		379/1632	156526478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156526478G>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1137C>T	1.37:g.156526478G>A						IQGAP3_uc009wsb.1_Silent_p.H336H	p.H379H	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			12	1212	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		379					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.1137C>T	CCDS1144.1																																																																																				PASS	0.612	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		11	20	11	20	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156617450	156617450	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156617450G>A	ENST00000329117.5	+	4	953	c.617G>A	c.(616-618)gGc>gAc	p.G206D	BCAN_ENST00000361588.5_Missense_Mutation_p.G206D|RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	206	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G206V(2)|p.G206D(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTGATGCTGGCTGGCTGTCG	0.657																																						uc001fpp.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|pancreas(1)	2						c.(616-618)GGC>GAC		brevican isoform 1							81.0	85.0	84.0					1																	156617450		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617450G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.617G>A	1.37:g.156617450G>A	ENSP00000331210:p.Gly206Asp					BCAN_uc001fpo.2_Missense_Mutation_p.G206D	p.G206D	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	953	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		206			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.617G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903131	0.92035	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.28	4.28	0.50868	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000015	T	0.59445	0.2194	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72481	-0.4280	10	0.87932	D	0	-24.6257	15.4434	0.75208	0.0:0.0:1.0:0.0	.	206;206	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	D	206;206;104;206	ENSP00000331210:G206D;ENSP00000389898:G206D;ENSP00000401709:G104D;ENSP00000354925:G206D	ENSP00000331210:G206D	G	+	2	0	BCAN	154884074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.564000	0.98151	2.196000	0.70406	0.455000	0.32223	GGC		PASS	0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		16	36	16	36	---	---	---	---
NES	10763	broad.mit.edu	37	1	156640228	156640228	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156640228C>T	ENST00000368223.3	-	4	3884	c.3752G>A	c.(3751-3753)gGg>gAg	p.G1251E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1251	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.G1251E(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCAGCCCTCCCCTGCACCCC	0.657																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(3751-3753)GGG>GAG		nestin							80.0	90.0	87.0					1																	156640228		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640228C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3752G>A	1.37:g.156640228C>T	ENSP00000357206:p.Gly1251Glu						p.G1251E	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3885	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1251			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3752G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518222	0.44763	.	.	ENSG00000132688	ENST00000368223	D	0.89343	-2.5	4.5	-0.101	0.13618	.	.	.	.	.	T	0.72550	0.3474	M	0.63843	1.955	0.09310	N	1	B	0.30584	0.286	B	0.29524	0.103	T	0.65080	-0.6255	9	0.87932	D	0	.	1.5606	0.02594	0.1433:0.4367:0.1494:0.2706	.	1251	P48681	NEST_HUMAN	E	1251	ENSP00000357206:G1251E	ENSP00000357206:G1251E	G	-	2	0	NES	154906852	0.000000	0.05858	0.000000	0.03702	0.663000	0.39108	-0.790000	0.04604	0.072000	0.16694	0.557000	0.71058	GGG		PASS	0.657	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		34	63	34	63	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156834541	156834541	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156834541C>T	ENST00000524377.1	+	3	350	c.309C>T	c.(307-309)ctC>ctT	p.L103L	NTRK1_ENST00000368196.3_Silent_p.L103L|NTRK1_ENST00000358660.3_Silent_p.L103L|NTRK1_ENST00000392302.2_Silent_p.L73L	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	103					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L103L(1)|p.L73L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGAGTGGTCTCCGTTTCGTGG	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(307-309)CTC>CTT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						112.0	87.0	95.0					1																	156834541		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156834541C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.309C>T	1.37:g.156834541C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.L73L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L103L|NTRK1_uc009wsk.1_Silent_p.L103L	p.L103L	NM_002529	NP_002520	P04629	NTRK1_HUMAN			3	365	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		103			LRR 1.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.309C>T	CCDS1161.1																																																																																				PASS	0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		6	19	6	19	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156846359	156846359	+	Silent	SNP	C	C	T	rs139606876		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:156846359C>T	ENST00000524377.1	+	14	1841	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	NTRK1_ENST00000368196.3_Silent_p.F594F|NTRK1_ENST00000358660.3_Silent_p.F597F|NTRK1_ENST00000392302.2_Silent_p.F564F	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F564F(1)|p.F600F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TCAACCGCTTCCTCCGGTACC	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1798-1800)TTC>TTT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)	C	,,	0,4406		0,0,2203	19.0	18.0	18.0		1692,1782,1800	3.3	1.0	1	dbSNP_134	18	1,8589		0,1,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	,,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,	564/761,594/791,600/797	156846359	1,12995	2203	4295	6498	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846359C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1800C>T	1.37:g.156846359C>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.F564F|NTRK1_uc009wsi.1_Silent_p.F299F|NTRK1_uc001fqi.1_Silent_p.F594F|NTRK1_uc009wsk.1_Silent_p.F597F	p.F600F	NM_002529	NP_002520	P04629	NTRK1_HUMAN			14	1856	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		600			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1800C>T	CCDS1161.1																																																																																				PASS	0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		7	1	7	1	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157504586	157504586	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:157504586G>A	ENST00000361835.3	-	8	1656	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	FCRL5_ENST00000368190.3_Missense_Mutation_p.S500F|FCRL5_ENST00000368189.3_Missense_Mutation_p.S500F|FCRL5_ENST00000356953.4_Missense_Mutation_p.S500F|FCRL5_ENST00000368191.3_Missense_Mutation_p.S415F	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	500	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S500F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GATTTGTGGGGAACCTCTCTG	0.522																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1498-1500)TCC>TTC		Fc receptor-like 5							58.0	56.0	56.0					1																	157504586		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504586G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1499C>T	1.37:g.157504586G>A	ENSP00000354691:p.Ser500Phe					FCRL5_uc009wsm.2_Missense_Mutation_p.S500F|FCRL5_uc010phv.1_Missense_Mutation_p.S500F|FCRL5_uc010phw.1_Missense_Mutation_p.S415F|FCRL5_uc001fqv.1_Missense_Mutation_p.S500F|FCRL5_uc010phx.1_Missense_Mutation_p.S251F	p.S500F	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			8	1657	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	500			Extracellular (Potential).|Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1499C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349093	0.41599	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	3.34	3.34	0.38264	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20981	0.0505	M	0.85710	2.77	0.31853	N	0.621967	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;0.999	T	0.13575	-1.0504	9	0.09843	T	0.71	.	10.3477	0.43916	0.0:0.0:1.0:0.0	.	531;415;500;500;500;500	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	F	500;500;500;415;500	ENSP00000354691:S500F;ENSP00000349434:S500F;ENSP00000357173:S500F;ENSP00000357174:S415F;ENSP00000357172:S500F	ENSP00000349434:S500F	S	-	2	0	FCRL5	155771210	0.492000	0.26027	0.005000	0.12908	0.003000	0.03518	2.697000	0.47060	1.872000	0.54250	0.313000	0.20887	TCC		PASS	0.522	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		12	19	12	19	---	---	---	---
FCRL4	83417	broad.mit.edu	37	1	157548574	157548574	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:157548574G>A	ENST00000271532.1	-	9	1481	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	449					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S449L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AACATACAACGACTGAAGCTC	0.552																																						uc001fqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1345-1347)TCG>TTG		Fc receptor-like 4 precursor							81.0	71.0	74.0					1																	157548574		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157548574G>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1346C>T	1.37:g.157548574G>A	ENSP00000271532:p.Ser449Leu					FCRL4_uc010phy.1_Intron	p.S449L	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			9	1482	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	449			Cytoplasmic (Potential).|ITIM motif 1.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1346C>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751479	0.15778	.	.	ENSG00000163518	ENST00000271532	T	0.19394	2.15	4.84	-9.67	0.00531	.	3.182450	0.01588	N	0.021395	T	0.03136	0.0092	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.20577	0.03	T	0.09975	-1.0650	10	0.19590	T	0.45	.	6.9211	0.24389	0.2396:0.0888:0.5618:0.1099	.	449	Q96PJ5	FCRL4_HUMAN	L	449	ENSP00000271532:S449L	ENSP00000271532:S449L	S	-	2	0	FCRL4	155815198	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.191000	0.00277	-2.807000	0.00349	-0.819000	0.03115	TCG		PASS	0.552	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	3	5	3	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157740377	157740377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:157740377C>T	ENST00000361516.3	-	3	180	c.132G>A	c.(130-132)tgG>tgA	p.W44*	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Nonsense_Mutation_p.W44*|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.W44*	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	44	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.W44*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGAATTTTCCAGTTCTGTT	0.428																																						uc001fre.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(130-132)TGG>TGA		Fc receptor-like 2 precursor							66.0	67.0	67.0					1																	157740377		2203	4300	6503	SO:0001587	stop_gained	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740377C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.132G>A	1.37:g.157740377C>T	ENSP00000355157:p.Trp44*					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Nonsense_Mutation_p.W44*|FCRL2_uc009wsp.2_Nonsense_Mutation_p.W44*|FCRL2_uc010pia.1_Nonsense_Mutation_p.W44*	p.W44*	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	191	-	all_hematologic(112;0.0378)		44			Ig-like C2-type 1.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP	ENST00000361516.3	37	c.132G>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857924	0.32791	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	.	.	.	4.33	-7.45	0.01374	.	4.212230	0.01129	N	0.005943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.518	0.00607	0.2317:0.1865:0.3078:0.274	.	.	.	.	X	44	.	ENSP00000292389:W44X	W	-	3	0	FCRL2	156007001	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.097000	0.00606	-1.261000	0.02462	-0.145000	0.13849	TGG		PASS	0.428	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		19	28	19	28	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158326590	158326590	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158326590C>T	ENST00000368167.3	+	6	1310	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	CD1E_ENST00000368157.1_Silent_p.T101T|CD1E_ENST00000444681.2_Silent_p.T258T|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368156.1_Silent_p.T255T|CD1E_ENST00000368166.3_Silent_p.T156T|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368154.1_Silent_p.T113T|CD1E_ENST00000368160.3_Silent_p.T345T|CD1E_ENST00000368163.3_Silent_p.T290T|CD1E_ENST00000368165.3_Silent_p.T267T|CD1E_ENST00000452291.2_Silent_p.T168T|CD1E_ENST00000368155.3_Silent_p.T200T	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	357					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.T357T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCAGGACACCAAGAATTCAA	0.438																																						uc001fse.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1069-1071)ACC>ACT		CD1E antigen isoform a precursor							115.0	110.0	112.0					1																	158326590		1908	4126	6034	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326590C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1071C>T	1.37:g.158326590C>T						CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Silent_p.T267T|CD1E_uc001fsj.2_Silent_p.T200T|CD1E_uc001fsc.2_Silent_p.T168T|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Silent_p.T113T|CD1E_uc001fsf.2_Silent_p.T345T|CD1E_uc001fry.2_Silent_p.T290T|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Silent_p.T156T|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Silent_p.T258T|CD1E_uc001frz.2_Silent_p.T255T|CD1E_uc009wsw.2_Missense_Mutation_p.P72L	p.T357T	NM_030893	NP_112155	P15812	CD1E_HUMAN			6	1310	+	all_hematologic(112;0.0378)		357					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.1071C>T	CCDS41417.1																																																																																				PASS	0.438	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		13	51	13	51	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390148	158390148	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158390148G>A	ENST00000314902.2	-	1	508	c.509C>T	c.(508-510)tCc>tTc	p.S170F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S170F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGATTGGAGGAATAAAAAGG	0.473																																						uc010pii.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(508-510)TCC>TTC		olfactory receptor, family 10, subfamily K,							160.0	144.0	149.0					1																	158390148		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390148G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.509C>T	1.37:g.158390148G>A	ENSP00000324251:p.Ser170Phe						p.S170F	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	509	-	all_hematologic(112;0.0378)		170			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.509C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	7.653	0.683335	0.14907	.	.	ENSG00000180708	ENST00000314902	T	0.36878	1.23	4.1	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.146302	0.32041	N	0.006679	T	0.34048	0.0884	L	0.56199	1.76	0.09310	N	1	D	0.64830	0.994	D	0.67382	0.951	T	0.08597	-1.0714	10	0.87932	D	0	.	6.9791	0.24694	0.0961:0.0:0.7318:0.1721	.	170	Q6IF99	O10K2_HUMAN	F	170	ENSP00000324251:S170F	ENSP00000324251:S170F	S	-	2	0	OR10K2	156656772	0.000000	0.05858	0.074000	0.20217	0.004000	0.04260	0.748000	0.26305	1.063000	0.40649	-0.373000	0.07131	TCC		PASS	0.473	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		22	52	22	52	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390491	158390491	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158390491G>A	ENST00000314902.2	-	1	165	c.166C>T	c.(166-168)Cat>Tat	p.H56Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H56Y(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ATGGGGATATGAAGGGCCCTG	0.498																																						uc010pii.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(166-168)CAT>TAT		olfactory receptor, family 10, subfamily K,							174.0	146.0	155.0					1																	158390491		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390491G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.166C>T	1.37:g.158390491G>A	ENSP00000324251:p.His56Tyr						p.H56Y	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	166	-	all_hematologic(112;0.0378)		56			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.166C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008058	0.54361	.	.	ENSG00000180708	ENST00000314902	T	0.15952	2.38	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.45034	0.1322	M	0.93197	3.39	0.48185	D	0.999602	D	0.76494	0.999	D	0.79784	0.993	T	0.61058	-0.7139	10	0.72032	D	0.01	.	15.5895	0.76517	0.0:0.0:1.0:0.0	.	56	Q6IF99	O10K2_HUMAN	Y	56	ENSP00000324251:H56Y	ENSP00000324251:H56Y	H	-	1	0	OR10K2	156657115	1.000000	0.71417	0.632000	0.29296	0.362000	0.29581	5.818000	0.69236	2.265000	0.75225	0.467000	0.42956	CAT		PASS	0.498	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		51	71	51	71	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158435712	158435712	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158435712G>A	ENST00000289451.2	+	1	441	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CATGGGCTATGATCGCTATAT	0.532																																						uc010pij.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(361-363)GAT>AAT		olfactory receptor, family 10, subfamily K,							186.0	180.0	182.0					1																	158435712		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435712G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.361G>A	1.37:g.158435712G>A	ENSP00000289451:p.Asp121Asn						p.D121N	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	361	+	all_hematologic(112;0.0378)		121			Cytoplasmic (Potential).		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.361G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	18.48	3.634203	0.67130	.	.	ENSG00000173285	ENST00000289451	T	0.54071	0.59	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000479	T	0.77391	0.4123	H	0.95402	3.665	0.38492	D	0.947993	D	0.89917	1.0	D	0.87578	0.998	D	0.85111	0.0963	10	0.72032	D	0.01	.	16.1284	0.81410	0.0:0.0:1.0:0.0	.	121	Q8NGX5	O10K1_HUMAN	N	121	ENSP00000289451:D121N	ENSP00000289451:D121N	D	+	1	0	OR10K1	156702336	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	7.176000	0.77643	2.311000	0.77944	0.557000	0.71058	GAT		PASS	0.532	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			22	74	22	74	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158449910	158449910	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158449910C>T	ENST00000368152.1	+	1	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F81F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAATGTACTTCTTCCTTGGCA	0.413																																						uc010pik.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(241-243)TTC>TTT		olfactory receptor, family 10, subfamily R,							272.0	232.0	246.0					1																	158449910		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449910C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.243C>T	1.37:g.158449910C>T						uc001fso.1_RNA	p.F81F	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	243	+	all_hematologic(112;0.0378)		81			Helical; Name=2; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.243C>T	CCDS30898.1																																																																																				PASS	0.413	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		31	99	31	99	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517431	158517431	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158517431G>A	ENST00000302617.3	-	1	464	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F155F(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGAGTCCACAGAACCAGCATC	0.468																																						uc010pil.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(463-465)TTC>TTT		olfactory receptor, family 6, subfamily Y,							55.0	48.0	50.0					1																	158517431		2203	4300	6503	SO:0001819	synonymous_variant	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517431G>A	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.465C>T	1.37:g.158517431G>A							p.F155F	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	465	-	all_hematologic(112;0.0378)		155			Helical; Name=4; (Potential).		Q6IFS0	Silent	SNP	ENST00000302617.3	37	c.465C>T	CCDS30899.1																																																																																				PASS	0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		9	17	9	17	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158583513	158583513	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158583513C>T	ENST00000368147.4	-	50	7167	c.6987G>A	c.(6985-6987)ggG>ggA	p.G2329G	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2329	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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.G2329G(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)					GTTCCTACCTCCCTGGATCCA	0.493																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6985-6987)GGG>GGA		spectrin, alpha, erythrocytic 1							67.0	66.0	67.0					1																	158583513		1939	4131	6070	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583513C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6987G>A	1.37:g.158583513C>T							p.G2329G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			50	7186	-	all_hematologic(112;0.0378)		2329			EF-hand 2.|2 (Potential).		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6987G>A	CCDS41423.1																																																																																				PASS	0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	30	12	30	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158644457	158644457	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158644457C>T	ENST00000368147.4	-	9	1301	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	374					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.R374Q(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)					AGATGAAAATCGATGGTACCT	0.448																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1120-1122)CGA>CAA		spectrin, alpha, erythrocytic 1							137.0	128.0	131.0					1																	158644457		1944	4153	6097	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158644457C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1121G>A	1.37:g.158644457C>T	ENSP00000357129:p.Arg374Gln						p.R374Q	NM_003126	NP_003117	P02549	SPTA1_HUMAN			9	1320	-	all_hematologic(112;0.0378)		374			Spectrin 5.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1121G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997287	0.74818	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.46063	0.88;0.88	5.04	4.11	0.48088	.	.	.	.	.	T	0.49150	0.1540	M	0.75884	2.315	0.47123	D	0.999325	D	0.71674	0.998	D	0.69654	0.965	T	0.49082	-0.8976	9	0.27785	T	0.31	.	12.2998	0.54868	0.1811:0.8189:0.0:0.0	.	374	P02549	SPTA1_HUMAN	Q	374	ENSP00000357130:R374Q;ENSP00000357129:R374Q	ENSP00000357129:R374Q	R	-	2	0	SPTA1	156911081	1.000000	0.71417	0.832000	0.32986	0.484000	0.33280	5.179000	0.65043	1.315000	0.45114	0.655000	0.94253	CGA		PASS	0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		45	76	45	76	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908261	158908261	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158908261C>T	ENST00000368140.1	+	3	585	c.340C>T	c.(340-342)Cct>Tct	p.P114S	PYHIN1_ENST00000392254.2_Missense_Mutation_p.P114S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P105S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P105S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.P114S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	114					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.P114S(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAGTGTATCCTGCTACACC	0.433																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(340-342)CCT>TCT		pyrin and HIN domain family, member 1 alpha 1							110.0	102.0	104.0					1																	158908261		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158908261C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.340C>T	1.37:g.158908261C>T	ENSP00000357122:p.Pro114Ser					PYHIN1_uc001fta.3_Missense_Mutation_p.P114S|PYHIN1_uc001ftc.2_Missense_Mutation_p.P105S|PYHIN1_uc001ftd.2_Missense_Mutation_p.P114S|PYHIN1_uc001fte.2_Missense_Mutation_p.P105S	p.P114S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			3	585	+	all_hematologic(112;0.0378)		114					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.340C>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214598	0.09810	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.32023	1.47;3.51;3.48;3.53;3.48;1.95	2.21	-1.24	0.09435	.	.	.	.	.	T	0.09423	0.0232	M	0.62723	1.935	0.09310	N	1	B;B;B;B;P	0.41450	0.035;0.164;0.035;0.021;0.75	B;B;B;B;B	0.36808	0.041;0.061;0.041;0.018;0.233	T	0.15838	-1.0423	9	0.34782	T	0.22	.	2.9611	0.05893	0.4718:0.3708:0.0:0.1574	.	105;114;105;114;114	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	114;114;105;114;105;114	ENSP00000407616:P114S;ENSP00000357122:P114S;ENSP00000357120:P105S;ENSP00000376083:P114S;ENSP00000376082:P105S;ENSP00000357117:P114S	ENSP00000357117:P114S	P	+	1	0	PYHIN1	157174885	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.507000	0.00961	-0.302000	0.08869	0.460000	0.39030	CCT		PASS	0.433	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		33	30	33	30	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158913695	158913695	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:158913695G>A	ENST00000368140.1	+	6	1363	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R373Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R364Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R364Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	373	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.R373Q(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GATAAGCTTCGACTCTTCTGC	0.368																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1117-1119)CGA>CAA		pyrin and HIN domain family, member 1 alpha 1							89.0	89.0	89.0					1																	158913695		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913695G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1118G>A	1.37:g.158913695G>A	ENSP00000357122:p.Arg373Gln					PYHIN1_uc001ftc.2_Missense_Mutation_p.R364Q|PYHIN1_uc001ftd.2_Missense_Mutation_p.R373Q|PYHIN1_uc001fte.2_Missense_Mutation_p.R364Q	p.R373Q	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			6	1363	+	all_hematologic(112;0.0378)		373			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1118G>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	2.297	-0.360966	0.05103	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	3.13	-3.55	0.04639	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01421	0.0046	N	0.04148	-0.265	0.09310	N	1	B;B;B;B	0.27732	0.004;0.021;0.079;0.187	B;B;B;B	0.24974	0.013;0.023;0.034;0.057	T	0.45542	-0.9254	9	0.15952	T	0.53	.	4.3061	0.10947	0.3541:0.1894:0.4565:0.0	.	364;373;364;373	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	373;364;373;364	ENSP00000357122:R373Q;ENSP00000357120:R364Q;ENSP00000376083:R373Q;ENSP00000376082:R364Q	ENSP00000357120:R364Q	R	+	2	0	PYHIN1	157180319	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-2.156000	0.01283	-0.790000	0.04492	-0.238000	0.12139	CGA		PASS	0.368	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		23	28	23	28	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683901	159683902	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:159683901_159683902GG>AA	ENST00000255030.5	-	2	191_192	c.88_89CC>TT	c.(88-90)CCc>TTc	p.P30F	CRP_ENST00000368112.1_Missense_Mutation_p.P30F|CRP_ENST00000368111.1_Missense_Mutation_p.P30F|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000368110.1_Missense_Mutation_p.P30F|CRP_ENST00000343919.2_Missense_Mutation_p.P30F|CRP_ENST00000437342.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	30	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.P30S(1)|p.P30F(1)|p.P30L(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CGACTCTTTGGGAAACACAAAA	0.47																																						uc001ftw.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(88-90)CCC>CTC|c.(88-90)CCC>TCC		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)																																			SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683901G>A|g.chr1:159683902G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.88_89delinsAA	1.37:g.159683901_159683902delinsAA	ENSP00000255030:p.Pro30Phe					CRP_uc001ftx.1_Missense_Mutation_p.P30L|CRP_uc001fty.1_5'Flank|CRP_uc001ftx.1_Missense_Mutation_p.P30S|CRP_uc001fty.1_5'Flank	p.P30L|p.P30S	NM_000567	NP_000558	P02741	CRP_HUMAN			2	193|192	-	all_hematologic(112;0.0429)		30			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.89C>T|c.88C>T	CCDS30911.1																																																																																				PASS	0.470	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		15	59|57	15	57	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159778967	159778967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:159778967G>A	ENST00000368106.3	+	4	537	c.536G>A	c.(535-537)tGg>tAg	p.W179*	FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000321935.6_Nonsense_Mutation_p.W186*|FCRL6_ENST00000339348.5_Nonsense_Mutation_p.W179*	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	179	Ig-like C2-type 2.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.W179*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGGCTTTACTGGTGTGAGGTG	0.632																																						uc001fud.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(535-537)TGG>TAG		Fc receptor-like 6 precursor							46.0	52.0	50.0					1																	159778967		2203	4300	6503	SO:0001587	stop_gained	343413					integral to membrane		g.chr1:159778967G>A	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.536G>A	1.37:g.159778967G>A	ENSP00000357086:p.Trp179*					FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Nonsense_Mutation_p.W186*|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Nonsense_Mutation_p.W179*	p.W179*	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN			4	578	+	all_hematologic(112;0.0597)		179			Ig-like C2-type 2.|Extracellular (Potential).		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Nonsense_Mutation	SNP	ENST00000368106.3	37	c.536G>A	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937669	0.34189	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000368106	.	.	.	4.64	3.71	0.42584	.	0.545440	0.13996	N	0.348431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9218	0.29850	0.1185:0.0:0.8815:0.0	.	.	.	.	X	186;179;179	.	ENSP00000320625:W186X	W	+	2	0	FCRL6	158045591	0.761000	0.28439	0.895000	0.35142	0.154000	0.21943	0.481000	0.22260	0.895000	0.36342	0.585000	0.79938	TGG		PASS	0.632	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		10	25	10	25	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159857720	159857720	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:159857720C>T	ENST00000368099.4	-	5	563	c.499G>A	c.(499-501)Gag>Aag	p.E167K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.E82K	NM_012337.2	NP_036469.2												p.E167K(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGGCCACCTCCTCCAGGTCA	0.547																																						uc001fui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)GAG>AAG		nasopharyngeal epithelium specific protein 1							283.0	241.0	256.0					1																	159857720		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159857720C>T																												ENST00000368099.4:c.499G>A	1.37:g.159857720C>T	ENSP00000357079:p.Glu167Lys					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E82K|CCDC19_uc001ful.2_Missense_Mutation_p.E82K|CCDC19_uc009wtc.1_Missense_Mutation_p.E167K	p.E167K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		5	517	-	all_hematologic(112;0.0597)		167			Potential.			Missense_Mutation	SNP	ENST00000368099.4	37	c.499G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633764	0.47049	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.51574	0.7;0.7	5.05	5.05	0.67936	.	0.352416	0.29916	N	0.010876	T	0.30166	0.0756	L	0.59436	1.845	0.43156	D	0.994938	P;P	0.35745	0.518;0.518	B;B	0.31390	0.129;0.129	T	0.15350	-1.0440	9	.	.	.	-16.4234	15.9263	0.79618	0.0:1.0:0.0:0.0	.	167;167	A8K884;Q9UL16	.;CCD19_HUMAN	K	167;82	ENSP00000357079:E167K;ENSP00000403044:E82K	.	E	-	1	0	CCDC19	158124344	1.000000	0.71417	0.948000	0.38648	0.772000	0.43724	2.338000	0.43957	2.362000	0.80069	0.561000	0.74099	GAG		PASS	0.547	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			55	86	55	86	---	---	---	---
SLAMF9	89886	broad.mit.edu	37	1	159923180	159923180	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:159923180C>T	ENST00000368093.3	-	2	426	c.310G>A	c.(310-312)Gat>Aat	p.D104N	SLAMF9_ENST00000368092.3_Missense_Mutation_p.D104N|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	104	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D104N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCCTGAATCCTCCCAGCTC	0.502																																						uc001fus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(310-312)GAT>AAT		SLAM family member 9 isoform 1							192.0	168.0	176.0					1																	159923180		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159923180C>T	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.310G>A	1.37:g.159923180C>T	ENSP00000357072:p.Asp104Asn					SLAMF9_uc009wtd.2_Missense_Mutation_p.D104N|SLAMF9_uc001fut.2_Intron	p.D104N	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	427	-	all_hematologic(112;0.093)		104			Extracellular (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.310G>A	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755124	0.69648	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	D;D	0.87809	-2.3;-2.3	5.28	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.051340	0.85682	D	0.000000	D	0.91700	0.7376	M	0.89214	3.015	0.31833	N	0.624541	P;D	0.89917	0.521;1.0	B;D	0.97110	0.204;1.0	D	0.90638	0.4572	9	.	.	.	-3.182	10.1292	0.42669	0.0:0.9071:0.0:0.0929	.	104;104	Q96A28-2;Q96A28	.;SLAF9_HUMAN	N	104	ENSP00000357072:D104N;ENSP00000357071:D104N	.	D	-	1	0	SLAMF9	158189804	0.953000	0.32496	0.181000	0.23098	0.806000	0.45545	1.565000	0.36386	1.227000	0.43598	0.655000	0.94253	GAT		PASS	0.502	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1	NM_033438		32	43	32	43	---	---	---	---
PIGM	93183	broad.mit.edu	37	1	160001449	160001449	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160001449T>A	ENST00000368090.2	-	1	334	c.81A>T	c.(79-81)ctA>ctT	p.L27L		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	27					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)	mannosyltransferase activity (GO:0000030)	p.L27L(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGACTCTGGCTAGAAAGGCCA	0.607																																						uc001fuv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(79-81)CTA>CTT		phosphatidylinositol glycan anchor biosynthesis,							66.0	73.0	71.0					1																	160001449		2203	4300	6503	SO:0001819	synonymous_variant	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160001449T>A	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.81A>T	1.37:g.160001449T>A							p.L27L	NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	335	-	all_hematologic(112;0.093)		27			Helical; (Potential).			Silent	SNP	ENST00000368090.2	37	c.81A>T	CCDS1192.1																																																																																				PASS	0.607	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		37	53	37	53	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160012275	160012275	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160012275T>A	ENST00000368089.3	-	2	274	c.48A>T	c.(46-48)gaA>gaT	p.E16D	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	16					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.E16D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGGGCCGGCTTTCTGTCTGAG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GAA>GAT		potassium inwardly-rectifying channel, subfamily							76.0	70.0	72.0					1																	160012275		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012275T>A	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.48A>T	1.37:g.160012275T>A	ENSP00000357068:p.Glu16Asp						p.E16D	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	198	-	all_hematologic(112;0.093)		16			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.48A>T	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	T	8.183	0.794184	0.16327	.	.	ENSG00000177807	ENST00000368089	D	0.88046	-2.33	5.17	0.187	0.15109	.	0.802838	0.11551	N	0.552746	T	0.47469	0.1447	N	0.08118	0	0.29890	N	0.825299	B	0.02656	0.0	B	0.01281	0.0	T	0.16571	-1.0398	10	0.13470	T	0.59	.	5.289	0.15717	0.0:0.4506:0.1847:0.3647	.	16	P78508	IRK10_HUMAN	D	16	ENSP00000357068:E16D	ENSP00000357068:E16D	E	-	3	2	KCNJ10	158278899	0.940000	0.31905	0.989000	0.46669	0.980000	0.70556	-0.120000	0.10660	0.111000	0.17947	0.482000	0.46254	GAA		PASS	0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		14	29	14	29	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160062267	160062267	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160062267G>A	ENST00000368086.1	-	5	1747	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Missense_Mutation_p.R511W			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	511	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R511W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTCCAGGCCGGACTCCCAGC	0.667																																						uc001fva.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1531-1533)CGG>TGG		immunoglobulin superfamily, member 8							27.0	29.0	28.0					1																	160062267		2203	4299	6502	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062267G>A	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1531C>T	1.37:g.160062267G>A	ENSP00000357065:p.Arg511Trp					IGSF8_uc001fuz.2_Missense_Mutation_p.R511W|IGSF8_uc009wtf.2_Missense_Mutation_p.R511W	p.R511W	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1576	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		511			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1531C>T	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903356	0.52333	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.07800	3.16;3.16	2.88	2.88	0.33553	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.373012	0.20591	U	0.089349	T	0.09774	0.0240	L	0.46157	1.445	0.33850	D	0.632551	D	0.89917	1.0	P	0.59221	0.854	T	0.03025	-1.1081	10	0.66056	D	0.02	-13.9574	12.6034	0.56509	0.0:0.0:1.0:0.0	.	511	Q969P0	IGSF8_HUMAN	W	511	ENSP00000316664:R511W;ENSP00000357065:R511W	ENSP00000316664:R511W	R	-	1	2	IGSF8	158328891	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	1.494000	0.35616	1.433000	0.47394	0.400000	0.26472	CGG		PASS	0.667	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		5	8	5	8	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160124859	160124859	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160124859G>A	ENST00000368081.4	+	3	703	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	78					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.E78K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGGGCAAAGGAAATCCTGAC	0.507																																						uc001fve.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(232-234)GAA>AAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							138.0	141.0	140.0					1																	160124859		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124859G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.232G>A	1.37:g.160124859G>A	ENSP00000357060:p.Glu78Lys					ATP1A4_uc001fvf.3_RNA	p.E78K	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	711	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		78			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.232G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744221	0.49151	.	.	ENSG00000132681	ENST00000368081	T	0.78816	-1.21	4.48	1.21	0.21127	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.413836	0.24147	N	0.041106	T	0.60366	0.2263	M	0.72353	2.195	0.80722	D	1	B	0.15141	0.012	B	0.22753	0.041	T	0.59506	-0.7442	10	0.87932	D	0	.	6.9471	0.24524	0.1077:0.299:0.5933:0.0	.	78	Q13733	AT1A4_HUMAN	K	78	ENSP00000357060:E78K	ENSP00000357060:E78K	E	+	1	0	ATP1A4	158391483	0.941000	0.31946	0.001000	0.08648	0.043000	0.13939	1.423000	0.34837	0.057000	0.16193	0.655000	0.94253	GAA		PASS	0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		26	96	26	96	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160322955	160322955	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160322955C>T	ENST00000294785.5	+	10	1232	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	NCSTN_ENST00000535857.1_Silent_p.A231A|NCSTN_ENST00000392212.4_Silent_p.A349A|NCSTN_ENST00000368063.1_Silent_p.A349A|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Silent_p.A111A	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	369					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.A369A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGTGGCCTTAAGAACTT	0.493																																						uc001fvx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1105-1107)GCC>GCT		nicastrin precursor							109.0	100.0	103.0					1																	160322955		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160322955C>T	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1107C>T	1.37:g.160322955C>T						NCSTN_uc001fvy.2_Silent_p.A349A|NCSTN_uc010pjf.1_Silent_p.A231A|NCSTN_uc001fvz.2_Silent_p.A149A|NCSTN_uc010pjg.1_Silent_p.A111A	p.A369A	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		10	1231	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		369			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.1107C>T	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285561	0.23478	.	.	ENSG00000162736	ENST00000424645;ENST00000435149	.	.	.	5.65	1.66	0.24008	.	.	.	.	.	T	0.35098	0.0920	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.16719	-1.0393	4	.	.	.	-23.2985	4.9452	0.13985	0.0:0.4329:0.2669:0.3002	.	.	.	.	L	205;46	.	.	P	+	2	0	NCSTN	158589579	0.854000	0.29725	0.971000	0.41717	0.985000	0.73830	-0.123000	0.10611	0.051000	0.15978	0.655000	0.94253	CCT		PASS	0.493	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	31	4	31	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160589610	160589610	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:160589610C>T	ENST00000302035.6	-	5	1169	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Missense_Mutation_p.E274K|SLAMF1_ENST00000235739.5_Missense_Mutation_p.E244K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	274					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.E274K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTTTTTTTTCCACTGTTGTC	0.433																																						uc001fwl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(820-822)GAA>AAA		signaling lymphocytic activation molecule family							262.0	261.0	261.0					1																	160589610		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589610C>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.820G>A	1.37:g.160589610C>T	ENSP00000306190:p.Glu274Lys					SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron	p.E274K	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1166	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		274			Cytoplasmic (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.820G>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014122	0.54468	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000355199	T;T;T	0.55760	0.5;0.5;0.5	4.32	2.45	0.29901	.	0.787937	0.10979	N	0.612898	T	0.49592	0.1566	M	0.82630	2.6	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.46386	-0.9195	10	0.07482	T	0.82	-11.3771	6.4711	0.22009	0.0:0.7838:0.0:0.2162	.	274	Q13291	SLAF1_HUMAN	K	274;244;274	ENSP00000306190:E274K;ENSP00000235739:E244K;ENSP00000347333:E274K	ENSP00000235739:E244K	E	-	1	0	SLAMF1	158856234	0.557000	0.26546	0.009000	0.14445	0.029000	0.11900	1.695000	0.37763	0.768000	0.33290	0.655000	0.94253	GAA		PASS	0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			23	68	23	68	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161043560	161043560	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:161043560C>T	ENST00000368012.3	-	7	1485	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	PVRL4_ENST00000453926.2_Missense_Mutation_p.E129K|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	395					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E395K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGGAGTTCTCCCTGGTCAGG	0.612																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1183-1185)GAG>AAG		poliovirus receptor-related 4 precursor							130.0	113.0	119.0					1																	161043560		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161043560C>T	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1183G>A	1.37:g.161043560C>T	ENSP00000356991:p.Glu395Lys					PVRL4_uc010pjy.1_Missense_Mutation_p.E74K|PVRL4_uc010pjz.1_Missense_Mutation_p.E129K	p.E395K	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		7	1482	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		395			Cytoplasmic (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.1183G>A	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548836	0.86127	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.37915	1.17;1.51	4.99	4.99	0.66335	.	0.000000	0.49305	D	0.000151	T	0.28267	0.0698	N	0.19112	0.55	0.44985	D	0.998006	D;D;D	0.69078	0.993;0.979;0.997	D;D;D	0.73380	0.956;0.973;0.98	T	0.05954	-1.0854	10	0.14252	T	0.57	.	13.7811	0.63084	0.0:1.0:0.0:0.0	.	129;74;395	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	K	395;129	ENSP00000356991:E395K;ENSP00000406015:E129K	ENSP00000356991:E395K	E	-	1	0	PVRL4	159310184	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.008000	0.49544	2.278000	0.76064	0.561000	0.74099	GAG		PASS	0.612	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		14	25	14	25	---	---	---	---
KLHDC9	126823	broad.mit.edu	37	1	161068494	161068494	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:161068494G>A	ENST00000368011.4	+	1	311	c.169G>A	c.(169-171)Gat>Aat	p.D57N	KLHDC9_ENST00000392192.2_Missense_Mutation_p.D57N|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	57								p.D57N(2)		lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCCAGCAGCGATACGGTGGT	0.657																																						uc001fxr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(169-171)GAT>AAT		kelch/ankyrin repeat containing cyclin A1							36.0	35.0	35.0					1																	161068494		2203	4300	6503	SO:0001583	missense	126823							g.chr1:161068494G>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.169G>A	1.37:g.161068494G>A	ENSP00000356990:p.Asp57Asn					KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.D57N	p.D57N	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		1	341	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		57			Kelch 1.		Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.169G>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907600	0.52333	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	T;T	0.77620	-1.11;-1.11	3.99	3.99	0.46301	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.103906	0.38778	N	0.001566	T	0.66117	0.2757	L	0.36672	1.1	0.31928	N	0.612559	P;D	0.61697	0.938;0.99	B;P	0.48982	0.417;0.597	T	0.69258	-0.5192	10	0.66056	D	0.02	-3.7171	13.9714	0.64242	0.0:0.0:1.0:0.0	.	57;57	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	N	57	ENSP00000356990:D57N;ENSP00000376030:D57N	ENSP00000356990:D57N	D	+	1	0	KLHDC9	159335118	0.996000	0.38824	0.114000	0.21550	0.236000	0.25371	5.224000	0.65288	2.201000	0.70794	0.313000	0.20887	GAT		PASS	0.657	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		5	4	5	4	---	---	---	---
UFC1	51506	broad.mit.edu	37	1	161127061	161127061	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:161127061G>T	ENST00000368003.5	+	3	455	c.209G>T	c.(208-210)tGg>tTg	p.W70L	RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368001.1_5'Flank|USP21_ENST00000368002.3_5'Flank|UFC1_ENST00000473766.1_3'UTR|USP21_ENST00000289865.8_5'Flank	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	70					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)	p.W70L(1)		endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAAAATGCTGGTATATCCAT	0.433																																						uc001fyd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)TGG>TTG		ubiquitin-fold modifier conjugating enzyme 1							234.0	233.0	234.0					1																	161127061		2203	4300	6503	SO:0001583	missense	51506				protein ufmylation		protein binding|UFM1 conjugating enzyme activity	g.chr1:161127061G>T	AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.209G>T	1.37:g.161127061G>T	ENSP00000356982:p.Trp70Leu					USP21_uc010pkc.1_5'Flank|USP21_uc010pkd.1_5'Flank|USP21_uc010pke.1_5'Flank|USP21_uc010pkf.1_5'Flank	p.W70L	NM_016406	NP_057490	Q9Y3C8	UFC1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	463	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		70					A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Missense_Mutation	SNP	ENST00000368003.5	37	c.209G>T	CCDS1220.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495455	0.85069	.	.	ENSG00000143222	ENST00000368003	T	0.59224	0.28	5.43	5.43	0.79202	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.92604	3.325	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	D	0.84334	0.0523	10	0.87932	D	0	-8.7911	18.0296	0.89279	0.0:0.0:1.0:0.0	.	70	Q9Y3C8	UFC1_HUMAN	L	70	ENSP00000356982:W70L	ENSP00000356982:W70L	W	+	2	0	UFC1	159393685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.054000	0.89451	2.547000	0.85894	0.655000	0.94253	TGG		PASS	0.433	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080810.1	NM_016406		5	107	5	107	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161161863	161161863	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:161161863C>T	ENST00000367996.5	-	8	2507	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	693	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.R693R(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	ACCTGAATTTCCTGAAGGAGC	0.517											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fyt.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2077-2079)AGG>AGA		ADAM metallopeptidase with thrombospondin type 1							128.0	116.0	120.0					1																	161161863		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161161863C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2079G>A	1.37:g.161161863C>T			OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814		p.R693R	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	2507	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		693			Spacer.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.2079G>A	CCDS1223.1																																																																																				PASS	0.517	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		30	45	30	45	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161164011	161164011	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:161164011C>T	ENST00000367996.5	-	5	1690	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	421	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.G421E(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAGACAGTGCCCTGGGAAGGG	0.587																																						uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(1261-1263)GGG>GAG		ADAM metallopeptidase with thrombospondin type 1							38.0	44.0	42.0					1																	161164011		2173	4290	6463	SO:0001630	splice_region_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161164011C>T	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1262-1G>A	1.37:g.161164011C>T							p.G421E	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1690	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		421			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1262G>A	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693298	0.68386	.	.	ENSG00000158859	ENST00000367996	T	0.12255	2.7	5.05	5.05	0.67936	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000008	T	0.43033	0.1229	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57382	-0.7821	10	0.87932	D	0	.	17.3348	0.87277	0.0:1.0:0.0:0.0	.	421	O75173	ATS4_HUMAN	E	421	ENSP00000356975:G421E	ENSP00000356975:G421E	G	-	2	0	ADAMTS4	159430635	1.000000	0.71417	0.952000	0.39060	0.423000	0.31445	6.322000	0.72886	2.641000	0.89580	0.561000	0.74099	GGG		PASS	0.587	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	Missense_Mutation	11	36	11	36	---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162482360	162482360	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:162482360C>T	ENST00000489294.1	+	5	1077	c.919C>T	c.(919-921)Cct>Tct	p.P307S	UHMK1_ENST00000538489.1_Missense_Mutation_p.P307S|UHMK1_ENST00000545294.1_Missense_Mutation_p.P233S|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	307					cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)	p.P307S(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAGCATTCCTTTTGGTAA	0.353																																						uc001gcc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(919-921)CCT>TCT		kinase interacting stathmin							177.0	165.0	169.0					1																	162482360		2203	4300	6503	SO:0001583	missense	127933				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding	g.chr1:162482360C>T	BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.919C>T	1.37:g.162482360C>T	ENSP00000420270:p.Pro307Ser					UHMK1_uc001gcb.1_Missense_Mutation_p.P233S|UHMK1_uc009wuu.1_Missense_Mutation_p.P307S	p.P307S	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		5	1055	+	all_hematologic(112;0.115)		307					A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.919C>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276739	0.59758	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.19532	2.14;2.14;2.14	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	N	0.14661	0.345	.	.	.	P;P;D	0.89917	0.476;0.455;1.0	B;B;D	0.83275	0.219;0.102;0.996	T	0.10474	-1.0628	9	0.14656	T	0.56	-8.9242	15.1529	0.72717	0.0:1.0:0.0:0.0	.	307;307;233	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	S	233;307;307	ENSP00000441226:P233S;ENSP00000446416:P307S;ENSP00000420270:P307S	ENSP00000420270:P307S	P	+	1	0	UHMK1	160748984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.907000	0.75724	2.434000	0.82447	0.655000	0.94253	CCT		PASS	0.353	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		33	50	33	50	---	---	---	---
DDR2	4921	broad.mit.edu	37	1	162745458	162745458	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:162745458G>A	ENST00000367922.3	+	16	2311	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	DDR2_ENST00000367921.3_Missense_Mutation_p.E625K|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	625	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E625K(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TTTTCTTAAGGAGATAAAGAT	0.418																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1873-1875)GAG>AAG		discoidin domain receptor family, member 2							113.0	110.0	111.0					1																	162745458		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745458G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1873G>A	1.37:g.162745458G>A	ENSP00000356899:p.Glu625Lys					DDR2_uc001gcg.2_Missense_Mutation_p.E625K	p.E625K	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2338	+	all_hematologic(112;0.115)		625			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1873G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359962	0.95877	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.96554	-4.05;-4.05	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	H	0.96861	3.895	0.40396	D	0.979590	D	0.89917	1.0	D	0.97110	1.0	D	0.99331	1.0909	9	0.59425	D	0.04	.	17.467	0.87635	0.0:0.0:1.0:0.0	.	625	Q16832	DDR2_HUMAN	K	625	ENSP00000356899:E625K;ENSP00000356898:E625K	ENSP00000356898:E625K	E	+	1	0	DDR2	161012082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.671000	0.98627	2.507000	0.84556	0.591000	0.81541	GAG		PASS	0.418	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		12	52	12	52	---	---	---	---
NUF2	83540	broad.mit.edu	37	1	163318799	163318799	+	Missense_Mutation	SNP	G	G	A	rs201334528		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:163318799G>A	ENST00000271452.3	+	13	1468	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	NUF2_ENST00000367900.3_Missense_Mutation_p.E397K|NUF2_ENST00000524800.1_Missense_Mutation_p.E350K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	397	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E397K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AATTAATCAAGAAATCCAAAA	0.333																																						uc001gcq.1																			2	Substitution - Missense(2)	p.E397D(1)	lung(2)	ovary(3)|skin(1)	4						c.(1189-1191)GAA>AAA		NUF2, NDC80 kinetochore complex component							63.0	67.0	66.0					1																	163318799		2203	4299	6502	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163318799G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1189G>A	1.37:g.163318799G>A	ENSP00000271452:p.Glu397Lys					NUF2_uc001gcr.1_Missense_Mutation_p.E397K|NUF2_uc009wvc.1_Missense_Mutation_p.E350K	p.E397K	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			13	1489	+	all_hematologic(923;0.101)		397			Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1189G>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221686	0.79464	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.35421	1.36;1.31;1.31	5.5	4.58	0.56647	.	0.146062	0.64402	D	0.000010	T	0.19406	0.0466	L	0.46157	1.445	0.48696	D	0.999692	B;P	0.46784	0.097;0.884	B;B	0.41036	0.043;0.346	T	0.03957	-1.0989	9	0.35671	T	0.21	-15.5281	11.9686	0.53051	0.0827:0.0:0.9173:0.0	.	350;397	E9PQC4;Q9BZD4	.;NUF2_HUMAN	K	350;397;397	ENSP00000436888:E350K;ENSP00000356875:E397K;ENSP00000271452:E397K	ENSP00000271452:E397K	E	+	1	0	NUF2	161585423	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.669000	0.54561	2.854000	0.98071	0.655000	0.94253	GAA		PASS	0.333	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		12	25	12	25	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095388	167095388	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:167095388C>T	ENST00000361200.2	+	6	1186	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	DUSP27_ENST00000271385.5_Silent_p.T340T|DUSP27_ENST00000443333.1_Silent_p.T340T|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	340					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCCCTCACCCTCATAGACG	0.652																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1018-1020)ACC>ACT		dual specificity phosphatase 27							23.0	29.0	27.0					1																	167095388		2203	4298	6501	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095388C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1020C>T	1.37:g.167095388C>T							p.T340T	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1020	+			340					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1020C>T	CCDS30932.1																																																																																				PASS	0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	2	5	2	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097050	167097050	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:167097050G>A	ENST00000361200.2	+	6	2848	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	DUSP27_ENST00000271385.5_Silent_p.G894G|DUSP27_ENST00000443333.1_Silent_p.G894G|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	894	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G894G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCCATAGGGAGCTTCCGAT	0.507																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2680-2682)GGG>GGA		dual specificity phosphatase 27							101.0	87.0	92.0					1																	167097050		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097050G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2682G>A	1.37:g.167097050G>A							p.G894G	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2682	+			894			Ser-rich.		A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2682G>A	CCDS30932.1																																																																																				PASS	0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		11	33	11	33	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168262467	168262468	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:168262467_168262468CC>TT	ENST00000367821.3	+	3	605_606	c.554_555CC>TT	c.(553-555)tCC>tTT	p.S185F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	185					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S185F(2)|p.S185S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ACAAACTGCTCCTTCCCTGAAA	0.47																																						uc001gfl.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(553-555)TCC>TTC|c.(553-555)TCC>TCT		T-box 19																																				SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168262467C>T|g.chr1:168262468C>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	Exception_encountered	1.37:g.168262467_168262468delinsTT	ENSP00000356795:p.Ser185Phe					TBX19_uc001gfj.3_Missense_Mutation_p.S116F|TBX19_uc001gfj.3_Silent_p.S116S	p.S185F|p.S185S	NM_005149	NP_005140	O60806	TBX19_HUMAN			3	605|606	+	all_hematologic(923;0.215)		185			T-box.		Q52M53	Missense_Mutation|Silent	SNP	ENST00000367821.3	37	c.554C>T|c.555C>T	CCDS1272.1																																																																																				PASS	0.470	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		8	16|15	8	15	---	---	---	---
NME7	29922	broad.mit.edu	37	1	169267909	169267909	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:169267909G>A	ENST00000367811.3	-	6	789	c.533C>T	c.(532-534)cCt>cTt	p.P178L	NME7_ENST00000472647.1_Missense_Mutation_p.P142L|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	178					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.P178L(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGAGTTTGCAGGTCCCAGCAG	0.433																																						uc001gfu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(532-534)CCT>CTT		nucleoside diphosphate kinase 7 isoform a							100.0	99.0	100.0					1																	169267909		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169267909G>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.533C>T	1.37:g.169267909G>A	ENSP00000356785:p.Pro178Leu					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.P142L|NME7_uc001gfv.1_Missense_Mutation_p.P178L	p.P178L	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			6	771	-	all_hematologic(923;0.208)		178					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.533C>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644962	0.87859	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.80123	-1.34;-1.34	5.74	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	M	0.93808	3.46	0.47621	D	0.999479	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.982	D	0.93281	0.6660	9	0.72032	D	0.01	-10.8698	15.8375	0.78811	0.0:0.0:0.863:0.137	.	182;178	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	L	142;178	ENSP00000433341:P142L;ENSP00000356785:P178L	ENSP00000356785:P178L	P	-	2	0	NME7	167534533	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.625000	0.74248	1.399000	0.46721	0.643000	0.83706	CCT		PASS	0.433	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		23	38	23	38	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510270	169510270	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:169510270C>T	ENST00000367797.3	-	13	4259	c.4058G>A	c.(4057-4059)gGt>gAt	p.G1353D	F5_ENST00000367796.3_Missense_Mutation_p.G1358D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1353	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.G1353D(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGCATCTGACCGAGGGCTGG	0.517																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4057-4059)GGT>GAT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						187.0	207.0	200.0					1																	169510270		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510270C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4058G>A	1.37:g.169510270C>T	ENSP00000356771:p.Gly1353Asp						p.G1353D	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4203	-	all_hematologic(923;0.208)		1353			2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4058G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	-	1.484	-0.556568	0.03967	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33216	1.42;1.42	4.72	-1.39	0.08997	.	1.095440	0.06651	N	0.762759	T	0.04137	0.0115	N	0.16903	0.455	0.23120	N	0.998266	B	0.02656	0.0	B	0.01281	0.0	T	0.36817	-0.9732	9	0.17369	T	0.5	0.168	1.1134	0.01709	0.1567:0.2665:0.1535:0.4232	.	1353	P12259	FA5_HUMAN	D	1353;1358	ENSP00000356771:G1353D;ENSP00000356770:G1358D	ENSP00000356770:G1358D	G	-	2	0	F5	167776894	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.359000	0.07632	-0.076000	0.12775	0.563000	0.77884	GGT		PASS	0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		71	130	71	130	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169586359	169586359	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:169586359C>T	ENST00000263686.6	-	3	425	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SELP_ENST00000367788.2_Missense_Mutation_p.D130N|SELP_ENST00000367786.2_Missense_Mutation_p.D130N|SELP_ENST00000367791.2_Missense_Mutation_p.D130N|SELP_ENST00000367793.2_Missense_Mutation_p.D130N|SELP_ENST00000367794.2_Missense_Mutation_p.D130N|SELP_ENST00000367792.2_Missense_Mutation_p.D130N|SELP_ENST00000458599.2_Missense_Mutation_p.D130N	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.D130N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCACGCAGTCCTCGTTGTTC	0.483																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(388-390)GAC>AAC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						268.0	244.0	252.0					1																	169586359		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586359C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.388G>A	1.37:g.169586359C>T	ENSP00000263686:p.Asp130Asn					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.D130N	p.D130N	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	453	-	all_hematologic(923;0.208)		130			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.388G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.010834|5.010834	0.93346|0.93346	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.14;2.14;2.14;2.14|.	5.79|5.79	5.79|5.79	0.91817|0.91817	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.000000|.	0.64402|.	D|.	0.000019|.	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.56124|0.56124	1.755|1.755	0.51482|0.51482	D|D	0.999923|0.999923	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.60078|0.60078	-0.7333|-0.7333	10|5	0.23302|.	T|.	0.38|.	-39.2737|-39.2737	17.5306|17.5306	0.87813|0.87813	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	130;130|.	Q6NUL9;P16109|.	.;LYAM3_HUMAN|.	N|E	130;130;129;130;130;130;130;130;130;130;130;130;115|129	ENSP00000263686:D130N;ENSP00000356767:D130N;ENSP00000356768:D130N;ENSP00000356766:D130N;ENSP00000356765:D130N;ENSP00000356762:D130N;ENSP00000356760:D130N|.	ENSP00000263686:D130N|.	D|G	-|-	1|2	0|0	SELP|SELP	167852983|167852983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.826000|0.826000	0.46750|0.46750	7.487000|7.487000	0.81328|0.81328	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GAC|GGA		PASS	0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		27	80	27	80	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169586483	169586483	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:169586483G>T	ENST00000263686.6	-	3	301	c.264C>A	c.(262-264)tcC>tcA	p.S88S	SELP_ENST00000367788.2_Silent_p.S88S|SELP_ENST00000367786.2_Silent_p.S88S|SELP_ENST00000367791.2_Silent_p.S88S|SELP_ENST00000367793.2_Silent_p.S88S|SELP_ENST00000367794.2_Silent_p.S88S|SELP_ENST00000367792.2_Silent_p.S88S|SELP_ENST00000458599.2_Silent_p.S88S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	88	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.S88S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCAGTAGTAGGAGCTGTAGT	0.443																																						uc001ggi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(262-264)TCC>TCA		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						232.0	208.0	216.0					1																	169586483		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586483G>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.264C>A	1.37:g.169586483G>T						SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Silent_p.S88S	p.S88S	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	329	-	all_hematologic(923;0.208)		88			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.264C>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	3.176	-0.168996	0.06461	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.9	-8.22	0.01037	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.36776	D	0.884062	.	.	.	.	.	.	T	0.33214	-0.9877	4	.	.	.	-4.3972	2.2435	0.04025	0.1772:0.2893:0.343:0.1905	.	.	.	.	I	88	.	.	L	-	1	2	SELP	167853107	0.000000	0.05858	0.002000	0.10522	0.442000	0.32017	-0.771000	0.04699	-1.101000	0.03027	-0.471000	0.05019	CTA		PASS	0.443	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		5	127	5	127	---	---	---	---
GORAB	92344	broad.mit.edu	37	1	170521499	170521499	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:170521499C>T	ENST00000367763.3	+	5	1101	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	361	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P361S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCTGTTTCCCCAAAGGTAGA	0.453																																						uc001gha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)CCA>TCA		golgin, RAB6-interacting isoform a							141.0	137.0	138.0					1																	170521499		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170521499C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.1081C>T	1.37:g.170521499C>T	ENSP00000356737:p.Pro361Ser					GORAB_uc009wvx.2_Missense_Mutation_p.P181S|GORAB_uc001ghb.2_Missense_Mutation_p.P181S|GORAB_uc001ghc.2_Missense_Mutation_p.P181S|GORAB_uc001ghd.2_Missense_Mutation_p.P154S	p.P361S	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			5	1108	+			361			Necessary for interaction with RCHY1.		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.1081C>T	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	c	14.45	2.539822	0.45176	.	.	ENSG00000120370	ENST00000367763	T	0.75154	-0.91	5.91	0.887	0.19200	.	1.121450	0.06479	N	0.732535	T	0.44095	0.1277	L	0.54323	1.7	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.20538	-1.0272	10	0.36615	T	0.2	-42.5347	1.7069	0.02884	0.1232:0.4416:0.1536:0.2815	.	361	Q5T7V8	GORAB_HUMAN	S	361	ENSP00000356737:P361S	ENSP00000356737:P361S	P	+	1	0	GORAB	168788123	0.000000	0.05858	0.009000	0.14445	0.042000	0.13812	0.330000	0.19715	-0.075000	0.12798	-0.726000	0.03593	CCA		PASS	0.453	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		26	46	26	46	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170940962	170940962	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:170940962C>T	ENST00000367758.3	+	8	653	c.554C>T	c.(553-555)tCg>tTg	p.S185L	MROH9_ENST00000367759.4_Missense_Mutation_p.S185L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	185								p.S185L(2)									GAAGATCCCTCGATTGTAAAA	0.443																																						uc001ghg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(553-555)TCG>TTG		hypothetical protein LOC80133 isoform 2							312.0	280.0	290.0					1																	170940962		1957	4144	6101	SO:0001583	missense	80133						binding	g.chr1:170940962C>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.554C>T	1.37:g.170940962C>T	ENSP00000356732:p.Ser185Leu					C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.S185L	p.S185L	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			8	684	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		185					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.554C>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427259	0.25726	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.66638	-0.22;1.39	5.25	-0.306	0.12780	.	1.713730	0.03496	N	0.217340	T	0.26268	0.0641	N	0.22421	0.69	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.12837	0.008;0.008	T	0.06481	-1.0824	10	0.33141	T	0.24	-0.0115	3.5482	0.07836	0.3058:0.436:0.0:0.2582	.	185;185	F5GWX6;Q5TGP6	.;CA129_HUMAN	L	185	ENSP00000356733:S185L;ENSP00000356732:S185L	ENSP00000356732:S185L	S	+	2	0	C1orf129	169207586	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.096000	0.03353	-0.041000	0.13558	0.655000	0.94253	TCG		PASS	0.443	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		54	93	54	93	---	---	---	---
FMO4	2329	broad.mit.edu	37	1	171293368	171293368	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:171293368C>T	ENST00000367749.3	+	5	743	c.413C>T	c.(412-414)gCt>gTt	p.A138V	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	138					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.A138V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAAATAGAGCTGTCTTTGAT	0.473																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(412-414)GCT>GTT		flavin containing monooxygenase 4							512.0	482.0	492.0					1																	171293368		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171293368C>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.413C>T	1.37:g.171293368C>T	ENSP00000356723:p.Ala138Val						p.A138V	NM_002022	NP_002013	P31512	FMO4_HUMAN			5	630	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		138					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.413C>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728867	0.15507	.	.	ENSG00000076258	ENST00000367749	T	0.58210	0.35	5.93	4.04	0.47022	.	0.302870	0.36665	N	0.002475	T	0.34861	0.0912	M	0.78916	2.43	0.09310	N	1	P	0.43938	0.822	B	0.41571	0.36	T	0.19712	-1.0297	10	0.25106	T	0.35	-7.1111	10.5876	0.45292	0.3674:0.5121:0.1204:0.0	.	138	P31512	FMO4_HUMAN	V	138	ENSP00000356723:A138V	ENSP00000356723:A138V	A	+	2	0	FMO4	169559992	0.000000	0.05858	0.206000	0.23566	0.122000	0.20287	0.312000	0.19397	0.809000	0.34255	0.655000	0.94253	GCT		PASS	0.473	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		106	187	106	187	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172538220	172538220	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:172538220C>T	ENST00000263688.3	+	7	1013	c.794C>T	c.(793-795)cCa>cTa	p.P265L	SUCO_ENST00000608151.1_Missense_Mutation_p.P424L|SUCO_ENST00000610051.1_Missense_Mutation_p.P228L|SUCO_ENST00000367723.4_Missense_Mutation_p.P423L	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	265					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.P265L(1)|p.P424L(1)									CCCAAAGATCCAGAAGATATA	0.318																																						uc001giq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(793-795)CCA>CTA		chromosome 1 open reading frame 9 protein							78.0	84.0	82.0					1																	172538220		2203	4297	6500	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172538220C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.794C>T	1.37:g.172538220C>T	ENSP00000263688:p.Pro265Leu					C1orf9_uc010pmm.1_Missense_Mutation_p.P265L|C1orf9_uc009wwd.2_Missense_Mutation_p.P228L|C1orf9_uc010pmn.1_Missense_Mutation_p.P228L|C1orf9_uc010pmo.1_RNA	p.P265L	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	7	1110	+		Breast(1374;0.212)	265					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.794C>T	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590934	0.86851	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.51	5.51	0.81932	.	0.234972	0.43416	D	0.000575	T	0.54711	0.1875	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D	0.65815	0.965;0.992;0.995;0.995	P;P;P;P	0.59221	0.497;0.816;0.854;0.854	T	0.60835	-0.7184	9	0.72032	D	0.01	-12.6282	17.9708	0.89112	0.0:1.0:0.0:0.0	.	228;265;424;265	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	L	424;265	.	ENSP00000263688:P265L	P	+	2	0	C1orf9	170804843	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	6.234000	0.72326	2.593000	0.87608	0.491000	0.48974	CCA		PASS	0.318	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		22	65	22	65	---	---	---	---
FASLG	356	broad.mit.edu	37	1	172634791	172634791	+	Missense_Mutation	SNP	G	G	A	rs80358236		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:172634791G>A	ENST00000367721.2	+	4	665	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.E161K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CATGCCTCTGGAATGGGAAGA	0.418																																					Ovarian(28;486 876 30334 44033)	uc001gis.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(481-483)GAA>AAA		fas ligand							121.0	107.0	111.0					1																	172634791		2203	4300	6503	SO:0001583	missense	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172634791G>A	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.481G>A	1.37:g.172634791G>A	ENSP00000356694:p.Glu161Lys					FASLG_uc001git.2_3'UTR	p.E161K	NM_000639	NP_000630	P48023	TNFL6_HUMAN			4	638	+			161			Extracellular (Potential).		Q9BZP9	Missense_Mutation	SNP	ENST00000367721.2	37	c.481G>A	CCDS1304.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223543	0.58668	.	.	ENSG00000117560	ENST00000367721	T	0.62941	-0.01	5.24	4.31	0.51392	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.245816	0.40469	N	0.001092	T	0.46367	0.1389	L	0.52206	1.635	0.80722	D	1	P	0.39094	0.659	B	0.42882	0.401	T	0.43491	-0.9388	10	0.25751	T	0.34	-11.1955	14.4031	0.67063	0.0:0.1491:0.8509:0.0	.	161	P48023	TNFL6_HUMAN	K	161	ENSP00000356694:E161K	ENSP00000356694:E161K	E	+	1	0	FASLG	170901414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.951000	0.49089	1.180000	0.42898	0.650000	0.86243	GAA		PASS	0.418	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			17	59	17	59	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173526526	173526526	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:173526526G>A	ENST00000367714.3	-	10	1590	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.P288S	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	390					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.P390S(1)									TAAACATCAGGAGCCCAGAGT	0.343																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1168-1170)CCT>TCT		solute carrier family 9, member 11							115.0	127.0	123.0					1																	173526526		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526526G>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1168C>T	1.37:g.173526526G>A	ENSP00000356687:p.Pro390Ser					SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	p.P390S	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			10	1591	-			390			Helical; (Potential).		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1168C>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	4.742	0.137937	0.09083	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.23552	1.9;1.9	5.57	5.57	0.84162	Cation/H+ exchanger (1);	0.000000	0.53938	D	0.000043	T	0.36386	0.0965	L	0.54323	1.7	0.30796	N	0.740432	D	0.89917	1.0	D	0.97110	1.0	T	0.16129	-1.0413	10	0.72032	D	0.01	-22.7768	15.0658	0.71992	0.0:0.0:1.0:0.0	.	390	Q5TAH2	S9A11_HUMAN	S	390;288	ENSP00000356687:P390S;ENSP00000445437:P288S	ENSP00000356687:P390S	P	-	1	0	SLC9A11	171793149	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.585000	0.60977	2.630000	0.89119	0.591000	0.81541	CCT		PASS	0.343	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		44	49	44	49	---	---	---	---
ZBTB37	84614	broad.mit.edu	37	1	173839578	173839578	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:173839578C>T	ENST00000367701.5	+	2	406	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ZBTB37_ENST00000427304.1_Missense_Mutation_p.S72L|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000367702.1_Missense_Mutation_p.S72L|ZBTB37_ENST00000432989.1_Missense_Mutation_p.S72L			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.S72L(4)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GTCTCCATTTCAGTCATCAAG	0.483																																						uc009wwp.1																			4	Substitution - Missense(4)		urinary_tract(2)|lung(2)		0						c.(214-216)TCA>TTA		zinc finger and BTB domain containing 37 isoform							109.0	109.0	109.0					1																	173839578		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839578C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.215C>T	1.37:g.173839578C>T	ENSP00000356674:p.Ser72Leu					GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.S72L|ZBTB37_uc001gjq.3_Missense_Mutation_p.S72L|ZBTB37_uc001gjr.2_Missense_Mutation_p.S72L	p.S72L	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	491	+			72			BTB.		Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.215C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737664	0.69304	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055365	0.85682	D	0.000000	T	0.65080	0.2657	N	0.25957	0.775	0.80722	D	1	D;P	0.63880	0.993;0.941	D;P	0.68039	0.955;0.734	T	0.59332	-0.7474	10	0.07030	T	0.85	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	72;72	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	L	72	ENSP00000356677:S72L;ENSP00000415293:S72L;ENSP00000409408:S72L;ENSP00000356675:S72L;ENSP00000356674:S72L	ENSP00000356674:S72L	S	+	2	0	ZBTB37	172106201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.767000	0.95098	0.563000	0.77884	TCA		PASS	0.483	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		12	46	12	46	---	---	---	---
SERPINC1	462	broad.mit.edu	37	1	173878828	173878828	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:173878828A>T	ENST00000367698.3	-	5	1133	c.1015T>A	c.(1015-1017)Tgg>Agg	p.W339R	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	339					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.W339R(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TCATCCAGCCACTCTTGCAGC	0.552																																						uc001gjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)TGG>AGG		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						164.0	160.0	162.0					1																	173878828		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878828A>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1015T>A	1.37:g.173878828A>T	ENSP00000356671:p.Trp339Arg						p.W339R	NM_000488	NP_000479	P01008	ANT3_HUMAN			5	1134	-			339					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1015T>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398379	0.83120	.	.	ENSG00000117601	ENST00000367698	D	0.86366	-2.11	5.64	5.64	0.86602	Serpin domain (3);	0.055005	0.85682	D	0.000000	D	0.94089	0.8105	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95354	0.8449	10	0.87932	D	0	.	15.5193	0.75854	1.0:0.0:0.0:0.0	.	339	P01008	ANT3_HUMAN	R	339	ENSP00000356671:W339R	ENSP00000356671:W339R	W	-	1	0	SERPINC1	172145451	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.700000	0.91322	2.147000	0.66899	0.533000	0.62120	TGG		PASS	0.552	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		23	44	23	44	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173930262	173930262	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:173930262G>A	ENST00000367696.2	-	13	2674	c.2323C>T	c.(2323-2325)Cct>Tct	p.P775S	RC3H1_ENST00000258349.4_Missense_Mutation_p.P775S|RC3H1_ENST00000367694.2_Missense_Mutation_p.P775S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	775	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.P775S(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						GGTGCAAAAGGAGGTGGAGAG	0.463																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2323-2325)CCT>TCT		roquin							221.0	205.0	211.0					1																	173930262		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.chr1:173930262G>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.2323C>T	1.37:g.173930262G>A	ENSP00000356669:p.Pro775Ser					RC3H1_uc010pms.1_Missense_Mutation_p.P775S|RC3H1_uc001gjv.2_Missense_Mutation_p.P775S|RC3H1_uc010pmt.1_Missense_Mutation_p.P775S	p.P775S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			12	2410	-			775			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2323C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014647	0.93404	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.48522	0.82;0.82;0.81	5.45	5.45	0.79879	.	0.143170	0.64402	N	0.000004	T	0.60457	0.2270	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.996	T	0.62421	-0.6858	10	0.66056	D	0.02	-4.4211	19.2801	0.94050	0.0:0.0:1.0:0.0	.	775;775;775;775	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	S	775	ENSP00000356669:P775S;ENSP00000258349:P775S;ENSP00000356667:P775S	ENSP00000258349:P775S	P	-	1	0	RC3H1	172196885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.085000	0.94083	2.555000	0.86185	0.655000	0.94253	CCT		PASS	0.463	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		24	30	24	30	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174363266	174363266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:174363266C>T	ENST00000251507.4	+	13	1867	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	RABGAP1L_ENST00000357444.6_Nonsense_Mutation_p.R528*|RABGAP1L_ENST00000367689.3_Nonsense_Mutation_p.R212*	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.R565*(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGATAGATACCGAATTCTTAT	0.408																																						uc001gjx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1693-1695)CGA>TGA		RAB GTPase activating protein 1-like isoform A							126.0	120.0	122.0					1																	174363266		2203	4300	6503	SO:0001587	stop_gained	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174363266C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1693C>T	1.37:g.174363266C>T	ENSP00000251507:p.Arg565*					RABGAP1L_uc009wwq.1_Nonsense_Mutation_p.R577*|RABGAP1L_uc001gjw.2_Nonsense_Mutation_p.R528*|RABGAP1L_uc001gjy.2_Nonsense_Mutation_p.R233*|RABGAP1L_uc001gjz.2_Nonsense_Mutation_p.R212*	p.R565*	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			13	1888	+			565			Rab-GAP TBC.		B7ZAA4	Nonsense_Mutation	SNP	ENST00000251507.4	37	c.1693C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	37	6.335839	0.97485	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	.	.	.	5.14	4.22	0.49857	.	0.138941	0.46442	D	0.000281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3588	0.55190	0.4632:0.5368:0.0:0.0	.	.	.	.	X	528;212;565;577;577	.	ENSP00000251507:R565X	R	+	1	2	RABGAP1L	172629889	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.366000	0.44204	1.139000	0.42245	0.563000	0.77884	CGA		PASS	0.408	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		11	46	11	46	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174363272	174363272	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:174363272C>T	ENST00000251507.4	+	13	1873	c.1699C>T	c.(1699-1701)Ctt>Ttt	p.L567F	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.L530F|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.L214F	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.L567F(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATACCGAATTCTTATCACAAA	0.403																																						uc001gjx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1699-1701)CTT>TTT		RAB GTPase activating protein 1-like isoform A							119.0	114.0	116.0					1																	174363272		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174363272C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1699C>T	1.37:g.174363272C>T	ENSP00000251507:p.Leu567Phe					RABGAP1L_uc009wwq.1_Missense_Mutation_p.L579F|RABGAP1L_uc001gjw.2_Missense_Mutation_p.L530F|RABGAP1L_uc001gjy.2_Missense_Mutation_p.L235F|RABGAP1L_uc001gjz.2_Missense_Mutation_p.L214F	p.L567F	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			13	1894	+			567			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1699C>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812066	0.90707	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.14	5.14	0.70334	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.994;1.0;1.0;0.999	D	0.86253	0.1650	10	0.59425	D	0.04	.	18.5918	0.91215	0.0:1.0:0.0:0.0	.	579;214;567;567;530	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	F	530;214;567;579;579	ENSP00000350027:L530F;ENSP00000356662:L214F;ENSP00000251507:L567F;ENSP00000403136:L579F	ENSP00000251507:L567F	L	+	1	0	RABGAP1L	172629895	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.378000	0.79679	2.397000	0.81536	0.563000	0.77884	CTT		PASS	0.403	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		24	34	24	34	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417516	174417516	+	Silent	SNP	C	C	T	rs201476703	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:174417516C>T	ENST00000367685.2	+	1	305	c.267C>T	c.(265-267)ttC>ttT	p.F89F	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	89					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F89F(2)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CTGATCTTTTCGTTGGAGTTA	0.423													C|||	4	0.000798722	0.0	0.0	5008	,	,		22546	0.001		0.0	False		,,,				2504	0.0031				Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1																			2	Substitution - coding silent(2)		lung(1)|skin(1)	skin(1)	1						c.(265-267)TTC>TTT		G protein-coupled receptor 52							251.0	237.0	242.0					1																	174417516		2203	4300	6503	SO:0001819	synonymous_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417516C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.267C>T	1.37:g.174417516C>T						RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.F89F	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	305	+			89			Helical; Name=2; (Potential).		O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	c.267C>T	CCDS30941.1																																																																																				PASS	0.423	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		40	107	40	107	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175375791	175375791	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:175375791G>A	ENST00000367674.2	-	3	768	c.60C>T	c.(58-60)atC>atT	p.I20I	TNR_ENST00000263525.2_Silent_p.I20I			Q92752	TENR_HUMAN	tenascin R	20					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.I20I(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)					AGCCCAGAAGGATCAGGTTGA	0.552																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(58-60)ATC>ATT		tenascin R precursor							184.0	162.0	169.0					1																	175375791		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375791G>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.60C>T	1.37:g.175375791G>A						TNR_uc009wwu.1_Silent_p.I20I|TNR_uc010pmz.1_Silent_p.I20I	p.I20I	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	141	-	Renal(580;0.146)		20					C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.60C>T	CCDS1318.1																																																																																				PASS	0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		29	43	29	43	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176525760	176525760	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176525760G>A	ENST00000367662.3	+	2	1466	c.302G>A	c.(301-303)gGa>gAa	p.G101E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G101E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	101					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G101E(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACACTGAAGGAAATGCTGTG	0.567																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(301-303)GGA>GAA		pappalysin 2 isoform 1							128.0	122.0	124.0					1																	176525760		2009	4169	6178	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525760G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.302G>A	1.37:g.176525760G>A	ENSP00000356634:p.Gly101Glu					PAPPA2_uc001gky.1_Missense_Mutation_p.G101E|PAPPA2_uc009www.2_RNA	p.G101E	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1466	+			101					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.302G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770932	0.31320	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29142	4.81;1.58	4.63	0.0108	0.14084	.	1.005240	0.08017	U	0.991426	T	0.23766	0.0575	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.34576	-0.9823	10	0.66056	D	0.02	-0.7932	4.3934	0.11351	0.2233:0.3626:0.4141:0.0	.	101;101	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	E	101	ENSP00000356634:G101E;ENSP00000356633:G101E	ENSP00000356633:G101E	G	+	2	0	PAPPA2	174792383	0.008000	0.16893	0.001000	0.08648	0.060000	0.15804	0.690000	0.25451	0.324000	0.23333	0.561000	0.74099	GGA		PASS	0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			45	80	45	80	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176526002G>A	ENST00000367662.3	+	2	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	182					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E182K(2)|p.E182*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587																																						uc001gkz.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|large_intestine(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(544-546)GAA>AAA		pappalysin 2 isoform 1							99.0	103.0	102.0					1																	176526002		2009	4178	6187	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526002G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.544G>A	1.37:g.176526002G>A	ENSP00000356634:p.Glu182Lys					PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.2_RNA	p.E182K	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1708	+			182					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.544G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	1.892	-0.455190	0.04540	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30714	4.74;1.52	4.26	2.33	0.28932	.	1.250560	0.06075	U	0.660727	T	0.25457	0.0619	L	0.51422	1.61	0.09310	N	1	B;B	0.21147	0.052;0.052	B;B	0.06405	0.002;0.002	T	0.25984	-1.0116	10	0.14252	T	0.57	.	6.461	0.21956	0.2067:0.0:0.7933:0.0	.	182;182	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	K	182	ENSP00000356634:E182K;ENSP00000356633:E182K	ENSP00000356633:E182K	E	+	1	0	PAPPA2	174792625	0.002000	0.14202	0.013000	0.15412	0.023000	0.10783	0.911000	0.28584	1.936000	0.56123	0.561000	0.74099	GAA		PASS	0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			24	56	24	56	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176640121	176640121	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176640121G>A	ENST00000367662.3	+	4	3171	c.2007G>A	c.(2005-2007)gtG>gtA	p.V669V	PAPPA2_ENST00000367661.3_Silent_p.V669V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	669	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V669V(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACATGAGTGTGAAGGAGCTGA	0.483																																						uc001gkz.2																			4	Substitution - coding silent(4)		cervix(2)|lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2005-2007)GTG>GTA		pappalysin 2 isoform 1							176.0	175.0	175.0					1																	176640121		1989	4170	6159	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640121G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2007G>A	1.37:g.176640121G>A						PAPPA2_uc001gky.1_Silent_p.V669V|PAPPA2_uc009www.2_RNA	p.V669V	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3171	+			669			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2007G>A	CCDS41438.1																																																																																				PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			29	124	29	124	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176661375	176661375	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176661375C>T	ENST00000367662.3	+	6	3709	c.2545C>T	c.(2545-2547)Cca>Tca	p.P849S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	849					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P849S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATCCCCATTCCACCTATGGT	0.512																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2545-2547)CCA>TCA		pappalysin 2 isoform 1							163.0	170.0	167.0					1																	176661375		2071	4212	6283	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661375C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2545C>T	1.37:g.176661375C>T	ENSP00000356634:p.Pro849Ser					PAPPA2_uc009www.2_RNA	p.P849S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3709	+			849					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2545C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432524	0.83776	.	.	ENSG00000116183	ENST00000367662	T	0.01745	4.66	5.81	5.81	0.92471	Fibronectin, type III (2);	0.051869	0.85682	D	0.000000	T	0.07638	0.0192	M	0.70275	2.135	0.80722	D	1	P	0.50066	0.931	P	0.52031	0.688	T	0.00747	-1.1583	10	0.72032	D	0.01	-10.3414	19.6776	0.95943	0.0:1.0:0.0:0.0	.	849	Q9BXP8	PAPP2_HUMAN	S	849	ENSP00000356634:P849S	ENSP00000356634:P849S	P	+	1	0	PAPPA2	174927998	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.282000	0.51693	2.746000	0.94184	0.655000	0.94253	CCA		PASS	0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			57	90	57	90	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176709183	176709183	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176709183T>A	ENST00000367662.3	+	14	5166	c.4002T>A	c.(4000-4002)ctT>ctA	p.L1334L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1334					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1334L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAATGTCCTTTTCCACCATA	0.483																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4000-4002)CTT>CTA		pappalysin 2 isoform 1							222.0	214.0	217.0					1																	176709183		2032	4184	6216	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709183T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4002T>A	1.37:g.176709183T>A						PAPPA2_uc009www.2_RNA	p.L1334L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5166	+			1334					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4002T>A	CCDS41438.1																																																																																				PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	76	21	76	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176992577	176992577	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:176992577G>A	ENST00000367654.3	-	7	1612	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	ASTN1_ENST00000424564.2_Silent_p.L467L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L467L|ASTN1_ENST00000361833.2_Silent_p.L467L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	467	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.L467L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGGGTCCAGGAGCCGCCGGG	0.612																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1399-1401)CTC>CTT		astrotactin isoform 1							28.0	26.0	27.0					1																	176992577		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992577G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1401C>T	1.37:g.176992577G>A						ASTN1_uc001glb.1_Silent_p.L467L|ASTN1_uc001gld.1_Silent_p.L467L|ASTN1_uc009wwx.1_Silent_p.L467L|ASTN1_uc001gle.3_RNA	p.L467L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			7	1613	-			467			EGF-like 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1401C>T																																																																																					PASS	0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		4	14	4	14	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178820370	178820371	+	Nonsense_Mutation	DNP	CC	CC	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:178820370_178820371CC>TA	ENST00000234816.2	-	6	1816_1817	c.1369_1370GG>TA	c.(1369-1371)GGa>TAa	p.G457*	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.G457*	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	457	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.G457*(2)|p.G457E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTAATGGCCTCCTCTGTACCAT	0.45																																						uc001gma.2																			3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(3)		0						c.(1369-1371)GGA>GAA|c.(1369-1371)GGA>TGA		angiopoietin-like 1 precursor																																				SO:0001587	stop_gained	9068					extracellular space	receptor binding	g.chr1:178820370C>T|g.chr1:178820371C>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1369_1370delinsTA	1.37:g.178820370_178820371delinsTA	ENSP00000234816:p.Gly457*					RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.G457E|RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Nonsense_Mutation_p.G457*	p.G457E|p.G457*	NM_004673	NP_004664	O95841	ANGL1_HUMAN			6	1846|1845	-			457			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000234816.2	37	c.1370G>A|c.1369G>T	CCDS1327.1																																																																																				PASS	0.450	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		26	36	26	36	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178822871	178822871	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:178822871C>T	ENST00000234816.2	-	4	1322	c.875G>A	c.(874-876)gGg>gAg	p.G292E	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G292E	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	292	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.G292E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CATATAAATCCCACTGACCGA	0.373																																						uc001gma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(874-876)GGG>GAG		angiopoietin-like 1 precursor							106.0	100.0	102.0					1																	178822871		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178822871C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.875G>A	1.37:g.178822871C>T	ENSP00000234816:p.Gly292Glu					RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.G292E|ANGPTL1_uc010pnc.1_Missense_Mutation_p.G214E	p.G292E	NM_004673	NP_004664	O95841	ANGL1_HUMAN			4	1351	-			292			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.875G>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365357	0.95900	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.86694	-2.16;-2.16	6.16	6.16	0.99307	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.95133	0.8423	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94991	0.8134	10	0.87932	D	0	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	292	O95841	ANGL1_HUMAN	E	292	ENSP00000234816:G292E;ENSP00000356601:G292E	ENSP00000234816:G292E	G	-	2	0	ANGPTL1	177089494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.373	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		17	40	17	40	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179087825	179087825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:179087825G>A	ENST00000502732.1	-	7	1323	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	ABL2_ENST00000507173.1_Nonsense_Mutation_p.R353*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.R359*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.R338*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.R359*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.R374*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.R353*|ABL2_ENST00000392043.3_Nonsense_Mutation_p.R353*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.R338*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.R359*(1)|p.R374*(1)|p.R338*(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGCATTCTCGGAGGTAATCC	0.428			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Nonsense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1120-1122)CGA>TGA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						180.0	155.0	164.0					1																	179087825		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179087825G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1120C>T	1.37:g.179087825G>A	ENSP00000427562:p.Arg374*					ABL2_uc010pnf.1_Nonsense_Mutation_p.R374*|ABL2_uc010png.1_Nonsense_Mutation_p.R353*|ABL2_uc010pnh.1_Nonsense_Mutation_p.R353*|ABL2_uc009wxe.2_Nonsense_Mutation_p.R353*|ABL2_uc001gmg.3_Nonsense_Mutation_p.R359*|ABL2_uc001gmi.3_Nonsense_Mutation_p.R359*|ABL2_uc001gmh.3_Nonsense_Mutation_p.R338*|ABL2_uc010pne.1_Nonsense_Mutation_p.R338*|ABL2_uc009wxf.1_Nonsense_Mutation_p.R359*|ABL2_uc001gmk.2_Nonsense_Mutation_p.R338*	p.R374*	NM_007314	NP_009298	P42684	ABL2_HUMAN			7	1407	-			374			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.1120C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	36	5.651672	0.96714	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	.	.	.	4.92	4.0	0.46444	.	0.000000	0.44097	D	0.000498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0518	0.64742	0.0:0.0:0.8481:0.1519	.	.	.	.	X	374;338;359;359;338;353;353;374;353	.	ENSP00000339209:R359X	R	-	1	2	ABL2	177354448	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.495000	0.66912	1.184000	0.42957	0.655000	0.94253	CGA		PASS	0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		16	64	16	64	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179414223	179414223	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:179414223A>T	ENST00000367618.3	+	16	2069	c.1682A>T	c.(1681-1683)aAt>aTt	p.N561I	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.N561I	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	561								p.N561I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGGATATTTAATCGGCATAAA	0.363																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1681-1683)AAT>ATT		hypothetical protein LOC126859 isoform 1							94.0	101.0	99.0					1																	179414223		2203	4300	6503	SO:0001583	missense	126859							g.chr1:179414223A>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1682A>T	1.37:g.179414223A>T	ENSP00000356590:p.Asn561Ile					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Missense_Mutation_p.N349I|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.N561I	p.N561I	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			16	1809	+			561					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1682A>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396341	0.25205	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.44482	2.24;0.92;2.24	5.65	-1.12	0.09808	.	1.203400	0.05372	N	0.535672	T	0.28863	0.0716	L	0.43152	1.355	0.09310	N	1	B;B;B	0.30824	0.021;0.038;0.296	B;B;B	0.27380	0.011;0.011;0.079	T	0.22382	-1.0218	10	0.35671	T	0.21	-17.5946	0.9334	0.01340	0.3618:0.1524:0.3292:0.1566	.	519;561;561	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	I	561;519;561;495	ENSP00000356590:N561I;ENSP00000416712:N561I;ENSP00000391716:N495I	ENSP00000353471:N519I	N	+	2	0	AXDND1	177680846	0.003000	0.15002	0.104000	0.21259	0.728000	0.41692	-0.195000	0.09546	0.099000	0.17552	-0.384000	0.06662	AAT		PASS	0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		19	55	19	55	---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179520325	179520325	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:179520325C>T	ENST00000367615.4	-	8	1203	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	AXDND1_ENST00000367618.3_Intron|RP11-545A16.1_ENST00000569644.1_RNA|NPHS2_ENST00000367616.4_Missense_Mutation_p.D311N	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	379					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.D379N(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ATGGGAGAGTCTTTCTTTTTA	0.493																																						uc001gmq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)GAC>AAC		podocin							56.0	55.0	55.0					1																	179520325		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520325C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1135G>A	1.37:g.179520325C>T	ENSP00000356587:p.Asp379Asn					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.D311N|C1orf125_uc001gmr.2_RNA	p.D379N	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			8	1220	-			379			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.1135G>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844640	0.91197	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99594	-6.25;-6.25	5.34	5.34	0.76211	.	0.369458	0.32041	N	0.006674	D	0.99450	0.9805	L	0.53249	1.67	0.46376	D	0.999018	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.98903	1.0777	10	0.72032	D	0.01	-22.5481	17.9644	0.89096	0.0:1.0:0.0:0.0	.	311;379	Q9NP85-2;Q9NP85	.;PODO_HUMAN	N	379;311	ENSP00000356587:D379N;ENSP00000356588:D311N	ENSP00000356587:D379N	D	-	1	0	NPHS2	177786948	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.948000	0.70249	2.652000	0.90054	0.655000	0.94253	GAC		PASS	0.493	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			9	20	9	20	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179659939	179659939	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:179659939T>A	ENST00000367614.1	+	17	3166	c.2807T>A	c.(2806-2808)tTg>tAg	p.L936*	TDRD5_ENST00000444136.1_Nonsense_Mutation_p.L990*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.L936*	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	936					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.L936*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTTTGATTTTGTCTTATGAG	0.458																																						uc001gnf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2806-2808)TTG>TAG		tudor domain containing 5							75.0	73.0	74.0					1																	179659939		2203	4300	6503	SO:0001587	stop_gained	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179659939T>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2807T>A	1.37:g.179659939T>A	ENSP00000356586:p.Leu936*					TDRD5_uc010pnp.1_Nonsense_Mutation_p.L990*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.L491*	p.L936*	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			17	3057	+			936					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Nonsense_Mutation	SNP	ENST00000367614.1	37	c.2807T>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	39	7.857137	0.98528	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	.	.	.	5.17	5.17	0.71159	.	0.248419	0.24922	N	0.034528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.7381	11.6996	0.51562	0.0:0.0:0.0:1.0	.	.	.	.	X	936;936;990;446	.	ENSP00000294848:L936X	L	+	2	0	TDRD5	177926562	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	3.887000	0.56197	2.076000	0.62316	0.533000	0.62120	TTG		PASS	0.458	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		11	33	11	33	---	---	---	---
QSOX1	5768	broad.mit.edu	37	1	180166160	180166160	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:180166160C>T	ENST00000367602.3	+	12	2306	c.2232C>T	c.(2230-2232)caC>caT	p.H744H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	744					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.H744H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTGGCCACCCTGCAGCCT	0.642																																						uc001gnz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2230-2232)CAC>CAT		quiescin Q6 sulfhydryl oxidase 1 isoform a							31.0	37.0	35.0					1																	180166160		2087	4221	6308	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180166160C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2232C>T	1.37:g.180166160C>T						QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Intron|FLJ23867_uc001god.3_5'Flank	p.H744H	NM_002826	NP_002817	O00391	QSOX1_HUMAN			12	2307	+			744					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.2232C>T	CCDS1337.1																																																																																				PASS	0.642	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		6	9	6	9	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181479711	181479711	+	Missense_Mutation	SNP	G	G	A	rs369308237		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:181479711G>A	ENST00000367573.2	+	2	365	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R122Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R73Q|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R122Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R122Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R73Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	122					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R122Q(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCATGTCCCGAAGACTGGTA	0.527																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(364-366)CGA>CAA		calcium channel, voltage-dependent, R type,		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4106		0,0,2053	111.0	112.0	112.0		365,365,365	5.3	1.0	1		112	1,8363		0,1,4181	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	43,43,43	0,1,6234	AA,AG,GG		0.012,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	122/2271,122/2314,122/2252	181479711	1,12469	2053	4182	6235	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479711G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.365G>A	1.37:g.181479711G>A	ENSP00000356545:p.Arg122Gln					CACNA1E_uc009wxr.2_Missense_Mutation_p.R29Q|CACNA1E_uc009wxs.2_Missense_Mutation_p.R29Q	p.R122Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			2	530	+			122			I.|Extracellular (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.365G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267351	0.80469	0.0	1.2E-4	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.27	5.27	0.74061	.	0.067055	0.64402	D	0.000015	D	0.87099	0.6093	N	0.00771	-1.2	0.80722	D	1	P;P	0.47762	0.9;0.9	B;B	0.32583	0.148;0.148	D	0.89417	0.3707	10	0.27785	T	0.31	.	18.4942	0.90858	0.0:0.0:1.0:0.0	.	122;122	Q15878-2;Q15878-3	.;.	Q	122;122;122;73;73;122;122	ENSP00000432038:R122Q;ENSP00000356542:R122Q;ENSP00000434814:R122Q;ENSP00000350183:R73Q;ENSP00000351101:R73Q;ENSP00000353222:R122Q;ENSP00000356545:R122Q	ENSP00000350183:R73Q	R	+	2	0	CACNA1E	179746334	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.942000	0.63547	2.456000	0.83038	0.561000	0.74099	CGA		PASS	0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	17	9	17	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181702138	181702138	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:181702138G>A	ENST00000367573.2	+	20	2916	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	CACNA1E_ENST00000367570.1_Silent_p.T972T|CACNA1E_ENST00000358338.5_Silent_p.T904T|CACNA1E_ENST00000367567.4_Silent_p.T579T|CACNA1E_ENST00000360108.3_Silent_p.T953T|CACNA1E_ENST00000526775.1_Silent_p.T953T|CACNA1E_ENST00000357570.5_Silent_p.T923T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	972					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T972T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGCCAACGATCCAAGAAG	0.562																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2914-2916)ACG>ACA		calcium channel, voltage-dependent, R type,							45.0	51.0	49.0					1																	181702138		2093	4226	6319	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702138G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2916G>A	1.37:g.181702138G>A						CACNA1E_uc009wxs.2_Silent_p.T860T|CACNA1E_uc001gox.1_Silent_p.T198T|CACNA1E_uc009wxt.2_Silent_p.T198T	p.T972T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			20	3081	+			972			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.2916G>A	CCDS55664.1																																																																																				PASS	0.562	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	15	9	15	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181753905	181753905	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:181753905G>A	ENST00000367573.2	+	41	5578		c.e41+1		CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000526775.1_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.?(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGCCCAAAGGTTTGGGTCTT	0.522																																						uc001gow.2																			2	Unknown(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.e41+1		calcium channel, voltage-dependent, R type,							48.0	51.0	50.0					1																	181753905		1935	4126	6061	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181753905G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5578+1G>A	1.37:g.181753905G>A						CACNA1E_uc009wxs.2_Splice_Site_p.A1748_splice|CACNA1E_uc009wxt.2_Splice_Site_p.A1086_splice	p.A1860_splice	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			41	5743	+								B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	37	c.5578_splice	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915951	0.92178	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1E	180020528	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	9.731000	0.98807	2.610000	0.88304	0.563000	0.77884	.		PASS	0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Intron	4	6	4	6	---	---	---	---
RGS8	85397	broad.mit.edu	37	1	182636100	182636100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:182636100C>T	ENST00000483095.2	-	4	292	c.35G>A	c.(34-36)gGg>gAg	p.G12E	RGS8_ENST00000367556.1_Missense_Mutation_p.G12E|RGS8_ENST00000367557.4_Missense_Mutation_p.G12E|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000258302.4_Missense_Mutation_p.G30E			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	12					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G12E(1)|p.G30E(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGTCCTCATCCCTTTGTTCCT	0.537																																					Ovarian(189;1262 3804 41973)	uc010pnw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(34-36)GGG>GAG		regulator of G-protein signalling 8 isoform 2							151.0	131.0	138.0					1																	182636100		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182636100C>T	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.35G>A	1.37:g.182636100C>T	ENSP00000426289:p.Gly12Glu					RGS8_uc001gpn.1_Missense_Mutation_p.G12E|RGS8_uc001gpm.1_Missense_Mutation_p.G30E	p.G12E	NM_001102450	NP_001095920	P57771	RGS8_HUMAN			4	293	-			12					B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.35G>A	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	C	7.015	0.557588	0.13436	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.37915	1.19;1.17;1.19;1.19	5.45	5.45	0.79879	.	0.198908	0.44688	D	0.000430	T	0.19685	0.0473	N	0.05487	-0.04	0.42502	D	0.992931	B;B	0.20052	0.006;0.041	B;B	0.18561	0.006;0.022	T	0.09796	-1.0658	10	0.08837	T	0.75	.	16.2074	0.82138	0.0:1.0:0.0:0.0	.	12;30	P57771;P57771-2	RGS8_HUMAN;.	E	12;30;12;12;12	ENSP00000426289:G12E;ENSP00000258302:G30E;ENSP00000356528:G12E;ENSP00000356527:G12E	ENSP00000258302:G30E	G	-	2	0	RGS8	180902723	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.175000	0.58263	2.565000	0.86533	0.655000	0.94253	GGG		PASS	0.537	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		15	48	15	48	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183087213	183087213	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:183087213C>T	ENST00000258341.4	+	11	2179	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCTCTTACCCCTTTTGAATTT	0.423																																						uc001gpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(1921-1923)CCT>CTT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	127.0	126.0					1																	183087213		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087213C>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1922C>T	1.37:g.183087213C>T	ENSP00000258341:p.Pro641Leu						p.P641L	NM_002293	NP_002284	P11047	LAMC1_HUMAN			11	2179	+			641			Laminin IV type A.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1922C>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244982	0.59103	.	.	ENSG00000135862	ENST00000258341	T	0.35789	1.29	5.0	5.0	0.66597	Laminin B type IV (2);Laminin B, subgroup (1);	0.169305	0.52532	D	0.000078	T	0.37019	0.0988	L	0.49126	1.545	0.58432	D	0.999999	B	0.32717	0.381	B	0.34452	0.183	T	0.13629	-1.0502	10	0.29301	T	0.29	.	18.3308	0.90268	0.0:1.0:0.0:0.0	.	641	P11047	LAMC1_HUMAN	L	641	ENSP00000258341:P641L	ENSP00000258341:P641L	P	+	2	0	LAMC1	181353836	0.998000	0.40836	0.972000	0.41901	0.997000	0.91878	3.654000	0.54453	2.317000	0.78254	0.650000	0.86243	CCT		PASS	0.423	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		13	40	13	40	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183852930	183852930	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:183852930C>T	ENST00000360851.3	+	6	799	c.621C>T	c.(619-621)ccC>ccT	p.P207P	RGL1_ENST00000304685.4_Silent_p.P242P|RGL1_ENST00000539189.1_Silent_p.P207P|RGL1_ENST00000536277.1_Silent_p.P205P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	207					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.P242P(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATGGGCTTCCCAACACGATCT	0.458																																						uc001gqo.2																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(619-621)CCC>CCT		ral guanine nucleotide dissociation							108.0	103.0	105.0					1																	183852930		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183852930C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.621C>T	1.37:g.183852930C>T						RGL1_uc010pof.1_Silent_p.P12P|RGL1_uc001gqm.2_Silent_p.P242P|RGL1_uc010pog.1_Silent_p.P205P|RGL1_uc010poh.1_Silent_p.P205P|RGL1_uc010poi.1_Silent_p.P207P	p.P207P	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			6	778	+			207					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.621C>T																																																																																					PASS	0.458	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		15	39	15	39	---	---	---	---
COLGALT2	23127	broad.mit.edu	37	1	183944313	183944313	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:183944313G>T	ENST00000361927.4	-	3	781	c.410C>A	c.(409-411)cCa>cAa	p.P137Q	COLGALT2_ENST00000546159.1_Missense_Mutation_p.P137Q	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	137					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.P137Q(1)									CCGGGAGGTTGGCCAGTGCTT	0.433																																						uc001gqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(409-411)CCA>CAA		glycosyltransferase 25 domain containing 2							87.0	83.0	84.0					1																	183944313		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183944313G>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.410C>A	1.37:g.183944313G>T	ENSP00000354960:p.Pro137Gln					GLT25D2_uc010poj.1_Missense_Mutation_p.P137Q|GLT25D2_uc001gqs.2_Missense_Mutation_p.P17Q	p.P137Q	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			3	782	-			137					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.410C>A	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296971	0.95574	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.22743	1.94;1.94	5.2	5.2	0.72013	.	0.056444	0.64402	D	0.000001	T	0.33760	0.0874	L	0.43923	1.385	0.80722	D	1	P;P	0.47034	0.839;0.889	P;P	0.52793	0.5;0.709	T	0.02184	-1.1199	10	0.56958	D	0.05	-13.5482	19.1269	0.93388	0.0:0.0:1.0:0.0	.	137;137	F5H3T5;Q8IYK4	.;GT252_HUMAN	Q	137	ENSP00000439112:P137Q;ENSP00000354960:P137Q	ENSP00000354960:P137Q	P	-	2	0	GLT25D2	182210936	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	9.497000	0.97970	2.583000	0.87209	0.650000	0.86243	CCA		PASS	0.433	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		15	22	15	22	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184765127	184765127	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:184765127C>A	ENST00000367511.3	-	14	1964	c.1771G>T	c.(1771-1773)Ggg>Tgg	p.G591W	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	591					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G591W(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGTTTGACCCTGTGGGGGGC	0.498																																						uc001gra.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1771-1773)GGG>TGG		niban protein isoform 2							61.0	67.0	65.0					1																	184765127		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184765127C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1771G>T	1.37:g.184765127C>A	ENSP00000356481:p.Gly591Trp					FAM129A_uc001grb.1_Missense_Mutation_p.G354W	p.G591W	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	1965	-			591					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1771G>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586386	0.46110	.	.	ENSG00000135842	ENST00000367511	T	0.16597	2.33	5.81	5.81	0.92471	.	0.331771	0.34046	N	0.004313	T	0.39226	0.1070	L	0.60455	1.87	0.44728	D	0.997722	D	0.89917	1.0	D	0.97110	1.0	T	0.01136	-1.1440	10	0.27082	T	0.32	-15.7493	18.2631	0.90043	0.0:1.0:0.0:0.0	.	591	Q9BZQ8	NIBAN_HUMAN	W	591	ENSP00000356481:G591W	ENSP00000356481:G591W	G	-	1	0	FAM129A	183031750	0.993000	0.37304	0.952000	0.39060	0.226000	0.24999	3.968000	0.56809	2.746000	0.94184	0.655000	0.94253	GGG		PASS	0.498	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			25	33	25	33	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184853813	184853813	+	Silent	SNP	C	C	T	rs561725280		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:184853813C>T	ENST00000367511.3	-	5	748	c.555G>A	c.(553-555)aaG>aaA	p.K185K		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	185					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K185K(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CACTAAACCTCTTCTGGTCAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16607	0.001		0.0	False		,,,				2504	0.0					uc001gra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(553-555)AAG>AAA		niban protein isoform 2							93.0	85.0	87.0					1																	184853813		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184853813C>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.555G>A	1.37:g.184853813C>T						FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	p.K185K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			5	749	-			185					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.555G>A	CCDS1364.1																																																																																				PASS	0.607	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			14	17	14	17	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185267192	185267192	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:185267192G>A	ENST00000367498.3	-	15	2526	c.1904C>T	c.(1903-1905)cCc>cTc	p.P635L	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P417L|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	635					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.P635L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTTGTATAGGGGCTCCATTC	0.383																																						uc001grl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1903-1905)CCC>CTC		influenza virus NS1A binding protein							116.0	120.0	118.0					1																	185267192		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185267192G>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1904C>T	1.37:g.185267192G>A	ENSP00000356468:p.Pro635Leu					IVNS1ABP_uc001gri.2_Missense_Mutation_p.P295L|IVNS1ABP_uc001grj.2_Missense_Mutation_p.P295L|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.P417L|IVNS1ABP_uc009wyk.2_RNA	p.P635L	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			15	2527	-			635			Kelch 6.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1904C>T	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776827	0.49786	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78595	-1.19;-1.19	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.103048	0.64402	D	0.000004	T	0.71273	0.3320	L	0.27975	0.815	0.80722	D	1	B;B	0.30146	0.042;0.27	B;B	0.31812	0.015;0.136	T	0.71849	-0.4468	10	0.87932	D	0	.	19.5013	0.95095	0.0:0.0:1.0:0.0	.	417;635	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	L	635;417	ENSP00000356468:P635L;ENSP00000375864:P417L	ENSP00000356468:P635L	P	-	2	0	IVNS1ABP	183533815	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.218000	0.77991	2.677000	0.91161	0.563000	0.77884	CCC		PASS	0.383	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		21	72	21	72	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186039829	186039829	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:186039829C>T	ENST00000271588.4	+	52	8308	c.8079C>T	c.(8077-8079)acC>acT	p.T2693T	HMCN1_ENST00000367492.2_Silent_p.T2693T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2693	Ig-like C2-type 25.				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.T2693T(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						ACACTCTGACCTTGGAATGTG	0.423																																						uc001grq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(22)|skin(1)	23						c.(8077-8079)ACC>ACT		hemicentin 1 precursor							128.0	124.0	125.0					1																	186039829		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186039829C>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.8079C>T	1.37:g.186039829C>T							p.T2693T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			52	8308	+			2693			Ig-like C2-type 25.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8079C>T	CCDS30956.1																																																																																				PASS	0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		24	35	24	35	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186277347	186277347	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:186277347G>A	ENST00000445192.2	+	7	2541	c.2496G>A	c.(2494-2496)aaG>aaA	p.K832K	PRG4_ENST00000367484.3_Splice_Site|PRG4_ENST00000367486.3_Silent_p.K789K|PRG4_ENST00000367483.4_Silent_p.K791K|PRG4_ENST00000367485.4_Silent_p.K739K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	832	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.K832K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCCAAGGAGCCTGCAC	0.582																																						uc001gru.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2494-2496)AAG>AAA		proteoglycan 4 isoform A							207.0	243.0	231.0					1																	186277347		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277347G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2496G>A	1.37:g.186277347G>A						PRG4_uc001grt.3_Silent_p.K791K|PRG4_uc009wyl.2_Silent_p.K739K|PRG4_uc009wym.2_Silent_p.K698K|PRG4_uc010poo.1_Intron	p.K832K	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	2547	+			832			59 X 8 AA repeats of K-X-P-X-P-T-T-X.|57.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2496G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	8.645	0.896826	0.17686	.	.	ENSG00000116690	ENST00000367484	.	.	.	3.29	0.751	0.18392	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6986	0.08374	0.2933:0.0:0.5177:0.189	.	.	.	.	.	-1	.	.	.	+	.	.	PRG4	184543970	0.000000	0.05858	0.001000	0.08648	0.220000	0.24768	0.277000	0.18734	0.485000	0.27652	0.413000	0.27773	.		PASS	0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		62	165	62	165	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186300714	186300714	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:186300714C>T	ENST00000367478.4	-	39	5901		c.e39-1			NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.?(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TAACTTCTTCCTGTATCATAA	0.343			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Unknown(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.e39-1		nuclear pore complex-associated protein TPR							135.0	124.0	127.0					1																	186300714		1838	4084	5922	SO:0001630	splice_region_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186300714C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5605-1G>A	1.37:g.186300714C>T							p.E1869_splice	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	39	5902	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Splice_Site	SNP	ENST00000367478.4	37	c.5605_splice	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814101	0.50527	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0732	0.86580	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPR	184567337	1.000000	0.71417	0.996000	0.52242	0.572000	0.35998	4.461000	0.60115	2.459000	0.83118	0.655000	0.94253	.		PASS	0.343	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	Intron	9	32	9	32	---	---	---	---
RGS13	6003	broad.mit.edu	37	1	192628569	192628570	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:192628569_192628570GG>AA	ENST00000391995.2	+	7	684_685	c.396_397GG>AA	c.(394-399)atGGaa>atAAaa	p.132_133ME>IK	RGS13_ENST00000543215.1_Missense_Mutation_p.132_133ME>IK|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	132	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.M132I(1)|p.E133K(1)|p.M132_E133>IK(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						ATATGCATATGGAAAGGGATTC	0.361																																						uc001gsj.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(394-396)ATG>ATA|c.(397-399)GAA>AAA		regulator of G-protein signalling 13																																				SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628569G>A|g.chr1:192628570G>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	Exception_encountered	1.37:g.192628569_192628570delinsAA	ENSP00000375853:p.M132_E133delinsIK					RGS13_uc001gsk.2_Missense_Mutation_p.M132I|RGS13_uc001gsk.2_Missense_Mutation_p.E133K	p.M132I|p.E133K	NM_002927	NP_002918	O14921	RGS13_HUMAN			7	677|678	+			132|133			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.396G>A|c.397G>A	CCDS1376.1																																																																																				PASS	0.361	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		10	27|28	10	27	---	---	---	---
TROVE2	6738	broad.mit.edu	37	1	193051315	193051315	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:193051315G>T	ENST00000367446.3	+	7	1413		c.e7-1		TROVE2_ENST00000416058.2_Splice_Site|TROVE2_ENST00000367444.3_Splice_Site|TROVE2_ENST00000367443.1_Splice_Site|TROVE2_ENST00000460715.2_Splice_Site|TROVE2_ENST00000400968.2_Splice_Site|TROVE2_ENST00000367441.1_Splice_Site|TROVE2_ENST00000367445.3_Splice_Site|TROVE2_ENST00000432079.1_Splice_Site	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.?(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAATTTTTCAGGTTGTCACAC	0.323																																						uc001gss.2																			1	Unknown(1)		lung(1)		0						c.e7-1		TROVE domain family, member 2 isoform 2							91.0	84.0	86.0					1																	193051315		1810	4070	5880	SO:0001630	splice_region_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193051315G>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1204-1G>T	1.37:g.193051315G>T						TROVE2_uc001gst.1_Splice_Site_p.V127_splice|TROVE2_uc001gsu.1_Splice_Site_p.V127_splice|TROVE2_uc001gsv.1_Splice_Site_p.V402_splice|TROVE2_uc001gsw.2_Splice_Site_p.V402_splice|TROVE2_uc009wyp.2_Splice_Site_p.V402_splice|TROVE2_uc009wyq.2_Splice_Site_p.V402_splice|TROVE2_uc001gsx.1_Splice_Site_p.V402_splice	p.V402_splice	NM_004600	NP_004591	P10155	RO60_HUMAN			7	1379	+								B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Splice_Site	SNP	ENST00000367446.3	37	c.1204_splice	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312625	0.81358	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9278	0.97110	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TROVE2	191317938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.345000	0.65987	2.770000	0.95276	0.650000	0.86243	.		PASS	0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	Intron	4	48	4	48	---	---	---	---
GLRX2	51022	broad.mit.edu	37	1	193070287	193070287	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:193070287G>T	ENST00000367439.3	-	2	215	c.167C>A	c.(166-168)cCt>cAt	p.P56H	GLRX2_ENST00000367440.3_Missense_Mutation_p.P57H|GLRX2_ENST00000472197.1_5'UTR	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	56					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.P57H(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CTGGTTCACAGGCGCCGTCGC	0.333																																						uc001gsz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)CCT>CAT		glutaredoxin 2 isoform 2	Glutathione(DB00143)						76.0	74.0	75.0					1																	193070287		2203	4300	6503	SO:0001583	missense	51022				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr1:193070287G>T	AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.167C>A	1.37:g.193070287G>T	ENSP00000356409:p.Pro56His					GLRX2_uc001gta.1_Missense_Mutation_p.P57H	p.P56H	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN			2	211	-			56					Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	ENST00000367439.3	37	c.167C>A	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001154	0.35320	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.34472	1.36;1.4	5.0	5.0	0.66597	Thioredoxin-like fold (2);	0.285757	0.38778	N	0.001575	T	0.55673	0.1935	L	0.58101	1.795	0.22305	N	0.999211	D;D	0.89917	1.0;0.998	D;P	0.77557	0.99;0.908	T	0.48906	-0.8993	10	0.45353	T	0.12	-31.2569	15.5783	0.76410	0.0:0.0:1.0:0.0	.	57;56	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	H	56;57	ENSP00000356409:P56H;ENSP00000356410:P57H	ENSP00000356409:P56H	P	-	2	0	GLRX2	191336910	0.854000	0.29725	0.402000	0.26371	0.004000	0.04260	4.661000	0.61518	2.464000	0.83262	0.655000	0.94253	CCT		PASS	0.333	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		4	38	4	38	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196658568	196658568	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:196658568C>T	ENST00000359637.2	+	7	853	c.791C>T	c.(790-792)cCa>cTa	p.P264L	CFH_ENST00000439155.2_Missense_Mutation_p.P328L|CFH_ENST00000367429.4_Missense_Mutation_p.P328L			P08603	CFAH_HUMAN	complement factor H	328	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.P328L(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTGATTATCCAGACATTAAA	0.279																																						uc001gtj.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(982-984)CCA>CTA		complement factor H isoform a precursor							65.0	62.0	63.0					1																	196658568		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658568C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.791C>T	1.37:g.196658568C>T	ENSP00000352658:p.Pro264Leu					CFH_uc001gti.3_Missense_Mutation_p.P328L|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.P264L	p.P328L	NM_000186	NP_000177	P08603	CFAH_HUMAN			8	1223	+			328			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.983C>T		.	.	.	.	.	.	.	.	.	.	C	14.82	2.648490	0.47258	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	D;D;D	0.84223	-1.82;-1.82;-1.82	5.61	5.61	0.85477	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	D	0.93700	0.7987	M	0.91300	3.195	0.49130	D	0.999753	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.981	D	0.93940	0.7222	9	0.52906	T	0.07	.	15.49	0.75597	0.0:1.0:0.0:0.0	.	264;328;328	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	L	328;328;328;264	ENSP00000356399:P328L;ENSP00000402656:P328L;ENSP00000352658:P264L	ENSP00000352658:P264L	P	+	2	0	CFH	194925191	1.000000	0.71417	0.941000	0.38009	0.062000	0.15995	3.861000	0.56002	2.813000	0.96785	0.655000	0.94253	CCA		PASS	0.279	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		6	18	6	18	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196706613	196706613	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:196706613C>T	ENST00000367429.4	+	17	2845	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	869	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.P869S(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAAAAATTCCATGTTCACA	0.294																																						uc001gtj.3																			2	Substitution - Missense(2)		NS(1)|lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(2605-2607)CCA>TCA		complement factor H isoform a precursor							37.0	36.0	36.0					1																	196706613		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196706613C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2605C>T	1.37:g.196706613C>T	ENSP00000356399:p.Pro869Ser						p.P869S	NM_000186	NP_000177	P08603	CFAH_HUMAN			17	2845	+			869			Sushi 15.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2605C>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	16.61	3.172569	0.57584	.	.	ENSG00000000971	ENST00000367429	T	0.64438	-0.1	5.58	-2.94	0.05581	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.30947	0.0781	L	0.35593	1.075	0.25234	N	0.989806	P	0.40332	0.713	B	0.25987	0.065	T	0.39941	-0.9589	9	0.02654	T	1	.	3.0168	0.06063	0.1051:0.3847:0.3026:0.2076	.	869	P08603	CFAH_HUMAN	S	869	ENSP00000356399:P869S	ENSP00000356399:P869S	P	+	1	0	CFH	194973236	0.000000	0.05858	0.013000	0.15412	0.281000	0.26958	-2.131000	0.01311	-0.174000	0.10743	0.650000	0.86243	CCA		PASS	0.294	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		8	10	8	10	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196920100	196920100	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:196920100G>A	ENST00000367415.5	+	3	472	c.372G>A	c.(370-372)gaG>gaA	p.E124E	CFHR2_ENST00000476712.2_Silent_p.E108E|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.E124E	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	124	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.E124E(1)		large_intestine(2)|ovary(1)|skin(3)	6						AAAACAATGAGAACAACATTT	0.393																																						uc001gtq.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(370-372)GAG>GAA		H factor (complement)-like 3 precursor							135.0	117.0	123.0					1																	196920100		2203	4300	6503	SO:0001819	synonymous_variant	3080					extracellular region		g.chr1:196920100G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.372G>A	1.37:g.196920100G>A						CFHR2_uc001gtr.1_Intron	p.E124E	NM_005666	NP_005657	P36980	FHR2_HUMAN			3	449	+			124			Sushi 2.		Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	c.372G>A	CCDS30959.1																																																																																				PASS	0.393	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		9	37	9	37	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197059368	197059368	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197059368A>T	ENST00000367409.4	-	24	10043	c.9787T>A	c.(9787-9789)Tat>Aat	p.Y3263N	ASPM_ENST00000367408.1_Missense_Mutation_p.Y928N|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1678N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3263					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Y3263N(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGTGCTTATATGTCAAAAGG	0.333																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(9787-9789)TAT>AAT		asp (abnormal spindle)-like, microcephaly							123.0	124.0	124.0					1																	197059368		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197059368A>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9787T>A	1.37:g.197059368A>T	ENSP00000356379:p.Tyr3263Asn					ASPM_uc001gtv.2_Missense_Mutation_p.Y1678N|ASPM_uc001gtw.3_Missense_Mutation_p.Y1111N	p.Y3263N	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			24	10044	-			3263					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9787T>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616548	0.66672	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.46451	0.87;0.87;0.87	5.38	4.24	0.50183	.	0.254549	0.33792	N	0.004557	T	0.52597	0.1744	L	0.50333	1.59	0.22873	N	0.998622	D;D;P	0.69078	0.997;0.961;0.956	D;P;P	0.64595	0.927;0.64;0.626	T	0.43278	-0.9401	10	0.28530	T	0.3	.	11.3661	0.49673	0.928:0.0:0.0719:0.0	.	1249;1678;3263	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	N	3263;1678;928;1249	ENSP00000356379:Y3263N;ENSP00000294732:Y1678N;ENSP00000356378:Y928N	ENSP00000294732:Y1678N	Y	-	1	0	ASPM	195325991	1.000000	0.71417	0.153000	0.22517	0.930000	0.56654	4.845000	0.62853	0.864000	0.35578	0.533000	0.62120	TAT		PASS	0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	46	12	46	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197099062	197099063	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197099062_197099063GG>AA	ENST00000367409.4	-	8	2867_2868	c.2611_2612CC>TT	c.(2611-2613)CCt>TTt	p.P871F	ASPM_ENST00000367408.1_Missense_Mutation_p.P121F|ASPM_ENST00000294732.7_Missense_Mutation_p.P871F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	871					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.P871L(1)|p.P871F(1)|p.P871S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATACAGGTGAGGAACAGTGGGG	0.401																																						uc001gtu.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|central_nervous_system(2)	6						c.(2611-2613)CCT>CTT|c.(2611-2613)CCT>TCT		asp (abnormal spindle)-like, microcephaly																																				SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197099062G>A|g.chr1:197099063G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2611_2612delinsAA	1.37:g.197099062_197099063delinsAA	ENSP00000356379:p.Pro871Phe					ASPM_uc001gtv.2_Missense_Mutation_p.P871L|ASPM_uc001gtw.3_Intron|ASPM_uc001gtv.2_Missense_Mutation_p.P871S|ASPM_uc001gtw.3_Intron	p.P871L|p.P871S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			8	2869|2868	-			871					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2612C>T|c.2611C>T	CCDS1389.1																																																																																				PASS	0.401	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		17	46	17	46	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197297777	197297777	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197297777C>T	ENST00000367400.3	+	2	431	c.296C>T	c.(295-297)cCt>cTt	p.P99L	CRB1_ENST00000535699.1_Missense_Mutation_p.P30L|CRB1_ENST00000538660.1_Missense_Mutation_p.P99L|CRB1_ENST00000367399.2_Missense_Mutation_p.P99L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	99	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P99H(1)|p.P99L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAAATGTCCTCCTGGGTAC	0.488																																						uc001gtz.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(295-297)CCT>CTT		crumbs homolog 1 precursor							92.0	83.0	86.0					1																	197297777		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297777C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.296C>T	1.37:g.197297777C>T	ENSP00000356370:p.Pro99Leu					CRB1_uc010poz.1_Missense_Mutation_p.P30L|CRB1_uc001gty.1_Missense_Mutation_p.P99L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P99L|CRB1_uc010ppb.1_Missense_Mutation_p.P99L	p.P99L	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	431	+			99			Extracellular (Potential).|EGF-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.296C>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346716	0.24426	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399	T;D;D;D	0.94497	3.18;-3.44;-3.44;-3.44	5.52	4.47	0.54385	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94974	0.8374	L	0.49455	1.56	0.80722	D	1	D;B;D;D;P	0.89917	1.0;0.414;1.0;1.0;0.884	D;B;D;D;B	0.97110	0.999;0.134;0.999;1.0;0.394	D	0.92205	0.5771	9	0.14656	T	0.56	.	10.0478	0.42197	0.0:0.8149:0.0:0.1851	.	99;30;99;99;124	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	L	30;99;99;99	ENSP00000438786:P30L;ENSP00000438091:P99L;ENSP00000356370:P99L;ENSP00000356369:P99L	ENSP00000356369:P99L	P	+	2	0	CRB1	195564400	0.123000	0.22298	0.997000	0.53966	0.126000	0.20510	0.652000	0.24888	1.203000	0.43233	0.655000	0.94253	CCT		PASS	0.488	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		8	25	8	25	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390651	197390651	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197390651G>A	ENST00000367400.3	+	6	1828	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R	CRB1_ENST00000535699.1_Missense_Mutation_p.G496R|CRB1_ENST00000538660.1_Missense_Mutation_p.G565R|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.G46R|CRB1_ENST00000367399.2_Missense_Mutation_p.G453R|CRB1_ENST00000543483.1_Missense_Mutation_p.G264R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	565	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G565R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACCAGCGATGGAGAGTGGCA	0.463																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1693-1695)GGA>AGA		crumbs homolog 1 precursor							123.0	123.0	123.0					1																	197390651		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390651G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1693G>A	1.37:g.197390651G>A	ENSP00000356370:p.Gly565Arg					CRB1_uc010poz.1_Missense_Mutation_p.G496R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G453R|CRB1_uc010ppb.1_Missense_Mutation_p.G565R|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.G46R|CRB1_uc001gub.1_Missense_Mutation_p.G214R	p.G565R	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1828	+			565			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1693G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187191	0.57909	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.69	4.78	0.61160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.93341	0.7877	M	0.90650	3.135	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.97110	0.999;1.0;1.0;0.858;1.0	D	0.94189	0.7439	9	0.59425	D	0.04	.	14.4028	0.67060	0.0708:0.0:0.9292:0.0	.	565;496;453;214;565	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	R	496;565;565;453;264;46;214	ENSP00000438786:G496R;ENSP00000438091:G565R;ENSP00000356370:G565R;ENSP00000356369:G453R;ENSP00000439579:G264R;ENSP00000444556:G46R	ENSP00000356369:G453R	G	+	1	0	CRB1	195657274	1.000000	0.71417	0.475000	0.27278	0.038000	0.13279	6.344000	0.72991	1.393000	0.46605	0.557000	0.71058	GGA		PASS	0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		32	60	32	60	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404159	197404159	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197404159G>A	ENST00000367400.3	+	9	3301	c.3166G>A	c.(3166-3168)Gac>Aac	p.D1056N	CRB1_ENST00000535699.1_Missense_Mutation_p.D1032N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367397.1_Missense_Mutation_p.D437N|CRB1_ENST00000544212.1_Missense_Mutation_p.D537N|CRB1_ENST00000367399.2_Missense_Mutation_p.D944N|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1056	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1056N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATGGAAGTGGACAACGAAAC	0.458																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(3166-3168)GAC>AAC		crumbs homolog 1 precursor							79.0	82.0	81.0					1																	197404159		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404159G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3166G>A	1.37:g.197404159G>A	ENSP00000356370:p.Asp1056Asn					CRB1_uc010poz.1_Missense_Mutation_p.D1032N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D944N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D537N|CRB1_uc001gub.1_Missense_Mutation_p.D705N	p.D1056N	NM_201253	NP_957705	P82279	CRUM1_HUMAN			9	3301	+			1056			Extracellular (Potential).|Laminin G-like 3.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.3166G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034761	0.54896	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.7	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.83885	0.5351	M	0.70595	2.14	0.51233	D	0.999914	B;B;P;B	0.41041	0.197;0.096;0.736;0.235	B;B;B;B	0.38500	0.062;0.024;0.275;0.103	T	0.82577	-0.0388	9	0.30854	T	0.27	.	15.1274	0.72494	0.0689:0.0:0.9311:0.0	.	1032;944;705;1056	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	N	1032;1056;944;537;437;705	ENSP00000438786:D1032N;ENSP00000356370:D1056N;ENSP00000356369:D944N;ENSP00000444556:D537N;ENSP00000356367:D437N	ENSP00000356367:D437N	D	+	1	0	CRB1	195670782	1.000000	0.71417	0.998000	0.56505	0.283000	0.27025	7.536000	0.82023	1.369000	0.46134	0.650000	0.86243	GAC		PASS	0.458	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		19	50	19	50	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197479786	197479786	+	IGR	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197479786G>A								CRB1 (32201 upstream) : DENND1B (41598 downstream)														p.S275L(1)|p.S351L(1)									CAGATCATCTGAAATCTGGCT	0.443																																						uc010ppe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2071-2073)TCA>TTA		DENN/MADD domain containing 1B isoform 1							140.0	126.0	131.0					1																	197479786		2203	4300	6503	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197479786G>A																													1.37:g.197479786G>A						DENND1B_uc010ppf.1_RNA	p.S691L	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2410	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.2072C>T		.	.	.	.	.	.	.	.	.	.	G	3.612	-0.079351	0.07141	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.38077	1.16	5.43	3.53	0.40419	.	1.291480	0.06298	U	0.700377	T	0.33323	0.0859	L	0.53249	1.67	0.23314	N	0.997928	P	0.38078	0.617	B	0.30029	0.11	T	0.25047	-1.0143	10	0.48119	T	0.1	.	9.808	0.40805	0.074:0.1394:0.7866:0.0	.	711	Q6P3S1-5	.	L	351;711;691	ENSP00000375839:S351L	ENSP00000375839:S351L	S	-	2	0	DENND1B	195746409	1.000000	0.71417	0.002000	0.10522	0.047000	0.14425	3.636000	0.54317	0.752000	0.32923	0.563000	0.77884	TCA	0	PASS	0.443									16	42	16	42	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197479927	197479927	+	IGR	SNP	T	T	C	rs370543741		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:197479927T>C								CRB1 (32342 upstream) : DENND1B (41457 downstream)														p.K304R(1)|p.K228R(1)									GTTTTCCTCTTTCAGGATAAA	0.493																																						uc010ppe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1930-1932)AAA>AGA		DENN/MADD domain containing 1B isoform 1							82.0	79.0	80.0					1																	197479927		2203	4299	6502	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197479927T>C																													1.37:g.197479927T>C						DENND1B_uc010ppf.1_RNA	p.K644R	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2269	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.1931A>G		.	.	.	.	.	.	.	.	.	.	T	9.612	1.131482	0.21041	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.34275	1.37	5.43	1.81	0.25067	.	0.252351	0.30686	U	0.009089	T	0.24275	0.0588	L	0.50333	1.59	0.09310	N	1	P	0.43094	0.799	B	0.39339	0.297	T	0.16897	-1.0387	10	0.11182	T	0.66	.	5.1458	0.14983	0.0:0.2202:0.1418:0.638	.	664	Q6P3S1-5	.	R	304;664;644	ENSP00000375839:K304R	ENSP00000375839:K304R	K	-	2	0	DENND1B	195746550	0.943000	0.32029	0.016000	0.15963	0.001000	0.01503	2.588000	0.46137	0.115000	0.18071	-0.376000	0.06991	AAA	0	PASS	0.493									20	32	20	32	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198723441	198723441	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:198723441C>T	ENST00000367376.2	+	32	3718	c.3547C>T	c.(3547-3549)Ctc>Ttc	p.L1183F	PTPRC_ENST00000352140.3_Missense_Mutation_p.L1135F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L1024F|PTPRC_ENST00000442510.2_Missense_Mutation_p.L1185F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L1022F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1183	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1183I(1)|p.L1183F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTGTTAAATCTCTTAGAAAG	0.373																																						uc001gur.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3547-3549)CTC>TTC		protein tyrosine phosphatase, receptor type, C							124.0	125.0	125.0					1																	198723441		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198723441C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3547C>T	1.37:g.198723441C>T	ENSP00000356346:p.Leu1183Phe					PTPRC_uc001gus.1_Missense_Mutation_p.L1135F|PTPRC_uc001gut.1_Missense_Mutation_p.L1022F	p.L1183F	NM_002838	NP_002829	P08575	PTPRC_HUMAN			32	3727	+			1183			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3547C>T		.	.	.	.	.	.	.	.	.	.	C	24.8	4.568109	0.86439	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T;T;T	0.16597	2.33;2.49;2.49	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.41938	D	0.000799	T	0.53012	0.1770	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.61637	-0.7022	10	0.72032	D	0.01	.	18.3145	0.90215	0.0:1.0:0.0:0.0	.	1024;1135;1183	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	1185;1135;1183;1022	ENSP00000193532:L1135F;ENSP00000411355:L1183F;ENSP00000306782:L1022F	ENSP00000306782:L1022F	L	+	1	0	PTPRC	196990064	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.448000	0.52943	2.760000	0.94817	0.644000	0.83932	CTC		PASS	0.373	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				12	40	12	40	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200569565	200569565	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:200569565C>T	ENST00000367350.4	-	12	2657	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	740					ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R740Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAGCCTGTATCGTTCAGGGTC	0.388																																						uc010ppk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(2218-2220)CGA>CAA		kinesin family member 14							214.0	195.0	201.0					1																	200569565		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200569565C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2219G>A	1.37:g.200569565C>T	ENSP00000356319:p.Arg740Gln					KIF14_uc010ppj.1_Missense_Mutation_p.R249Q	p.R740Q	NM_014875	NP_055690	Q15058	KIF14_HUMAN			12	2658	-			740			Potential.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.2219G>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866823	0.32977	.	.	ENSG00000118193	ENST00000367350	T	0.74002	-0.8	5.21	1.26	0.21427	.	0.317119	0.31721	N	0.007180	T	0.55289	0.1911	N	0.22421	0.69	0.25857	N	0.983879	B	0.02656	0.0	B	0.04013	0.001	T	0.37103	-0.9720	10	0.24483	T	0.36	.	8.8621	0.35265	0.0:0.4993:0.0:0.5007	.	740	Q15058	KIF14_HUMAN	Q	740	ENSP00000356319:R740Q	ENSP00000356319:R740Q	R	-	2	0	KIF14	198836188	1.000000	0.71417	0.062000	0.19696	0.703000	0.40648	2.265000	0.43311	0.046000	0.15833	-0.745000	0.03516	CGA		PASS	0.388	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		37	55	37	55	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201061124	201061124	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:201061124G>T	ENST00000362061.3	-	4	743	c.517C>A	c.(517-519)Ctc>Atc	p.L173I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L173I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	173					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L173I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAGCCGGAGGGGTCTGAGC	0.612																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(517-519)CTC>ATC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						70.0	67.0	68.0					1																	201061124		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061124G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.517C>A	1.37:g.201061124G>T	ENSP00000355192:p.Leu173Ile						p.L173I	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			4	744	-			173			Helical; Name=S4 of repeat I; (Potential).|I.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.517C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943114	0.73672	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.99113	-5.44;-5.44	4.48	4.48	0.54585	Ion transport (1);	0.072199	0.53938	D	0.000041	D	0.99405	0.9790	H	0.94620	3.56	0.43453	D	0.995643	D	0.55800	0.973	P	0.60117	0.869	D	0.98455	1.0593	10	0.87932	D	0	.	17.5103	0.87758	0.0:0.0:1.0:0.0	.	173	Q13698	CAC1S_HUMAN	I	173	ENSP00000355192:L173I;ENSP00000356307:L173I	ENSP00000355192:L173I	L	-	1	0	CACNA1S	199327747	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	3.030000	0.49720	2.198000	0.70561	0.655000	0.94253	CTC		PASS	0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	38	4	38	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202092462	202092462	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:202092462C>T	ENST00000367282.5	+	1	477	c.371C>T	c.(370-372)aCc>aTc	p.T124I		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	124					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T124I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TATCCGGTGACCGAGAGCTCC	0.602																																						uc001gxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(370-372)ACC>ATC		G-protein coupled receptor 37 like 1 precursor							171.0	144.0	153.0					1																	202092462		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092462C>T	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.371C>T	1.37:g.202092462C>T	ENSP00000356251:p.Thr124Ile						p.T124I	NM_004767	NP_004758	O60883	ETBR2_HUMAN			1	434	+			124			Extracellular (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.371C>T	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811699	0.70797	.	.	ENSG00000170075	ENST00000367282	T	0.38560	1.13	5.13	5.13	0.70059	.	0.123813	0.56097	D	0.000038	T	0.46502	0.1396	M	0.68593	2.085	0.58432	D	0.999992	P	0.43314	0.803	P	0.45138	0.471	T	0.36768	-0.9734	10	0.24483	T	0.36	-43.1079	13.8757	0.63651	0.0:0.847:0.153:0.0	.	124	O60883	ETBR2_HUMAN	I	124	ENSP00000356251:T124I	ENSP00000356251:T124I	T	+	2	0	GPR37L1	200359085	0.992000	0.36948	0.998000	0.56505	0.884000	0.51177	2.929000	0.48916	2.370000	0.80446	0.462000	0.41574	ACC		PASS	0.602	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		7	27	7	27	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202705412	202705412	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:202705412C>T	ENST00000367265.3	-	21	4357	c.3193G>A	c.(3193-3195)Gag>Aag	p.E1065K	KDM5B_ENST00000367264.2_Missense_Mutation_p.E1101K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1065					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E1065K(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCCTGAACCTCAGCTACTAGG	0.433																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(3193-3195)GAG>AAG		jumonji, AT rich interactive domain 1B							110.0	106.0	107.0					1																	202705412		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202705412C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3193G>A	1.37:g.202705412C>T	ENSP00000356234:p.Glu1065Lys					KDM5B_uc009xag.2_Missense_Mutation_p.E1101K|KDM5B_uc001gyg.1_Missense_Mutation_p.E907K	p.E1065K	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			21	3309	-			1065					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3193G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934541	0.92458	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.44881	0.91;0.91;0.91	5.66	5.66	0.87406	Lysine-specific demethylase-like domain (1);	0.045176	0.85682	D	0.000000	T	0.52386	0.1731	L	0.60455	1.87	0.80722	D	1	D;B	0.54207	0.965;0.132	P;B	0.49887	0.625;0.166	T	0.46133	-0.9213	10	0.40728	T	0.16	-28.5968	20.1253	0.97977	0.0:1.0:0.0:0.0	.	1101;1065	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	K	1065;907;1101;907	ENSP00000356234:E1065K;ENSP00000356233:E1101K;ENSP00000235790:E907K	ENSP00000235790:E907K	E	-	1	0	KDM5B	200972035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.028000	0.70889	2.832000	0.97577	0.655000	0.94253	GAG		PASS	0.433	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		7	39	7	39	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203317278	203317278	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:203317278G>A	ENST00000354955.4	-	2	584	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	41					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P41S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGTCATAGGGATCGTAGTAG	0.597																																						uc001gzr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(121-123)CCC>TCC		fibromodulin precursor							65.0	61.0	62.0					1																	203317278		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203317278G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.121C>T	1.37:g.203317278G>A	ENSP00000347041:p.Pro41Ser					FMOD_uc010pqi.1_RNA	p.P41S	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	257	-			41					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.121C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.957980	0.18507	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.53640	0.61	5.53	4.61	0.57282	.	0.582470	0.15953	N	0.236633	T	0.28995	0.0720	N	0.19112	0.55	0.30197	N	0.798991	B	0.10296	0.003	B	0.04013	0.001	T	0.21280	-1.0250	10	0.18710	T	0.47	-13.6024	7.2601	0.26199	0.0847:0.0:0.7451:0.1702	.	41	Q06828	FMOD_HUMAN	S	41	ENSP00000347041:P41S	ENSP00000347041:P41S	P	-	1	0	FMOD	201583901	1.000000	0.71417	0.975000	0.42487	0.718000	0.41266	3.715000	0.54897	1.313000	0.45069	0.563000	0.77884	CCC		PASS	0.597	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		9	39	9	39	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205068920	205068920	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:205068920G>A	ENST00000264515.6	-	9	1068	c.927C>T	c.(925-927)atC>atT	p.I309I	RBBP5_ENST00000367164.1_Silent_p.I309I	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	309					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.I309I(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGGATGCTATGATGGGTCGAA	0.353																																						uc001hbu.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(925-927)ATC>ATT		retinoblastoma binding protein 5							123.0	129.0	127.0					1																	205068920		2203	4300	6503	SO:0001819	synonymous_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205068920G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.927C>T	1.37:g.205068920G>A						RBBP5_uc010prd.1_Silent_p.I344I|RBBP5_uc001hbv.1_Silent_p.I309I|RBBP5_uc010pre.1_Silent_p.I176I	p.I309I	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		9	1057	-	Breast(84;0.0505)		309			WD 6.		A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	c.927C>T	CCDS30983.1																																																																																				PASS	0.353	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		28	60	28	60	---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205068922	205068922	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:205068922T>A	ENST00000264515.6	-	9	1066	c.925A>T	c.(925-927)Atc>Ttc	p.I309F	RBBP5_ENST00000367164.1_Missense_Mutation_p.I309F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	309					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.I309F(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GATGCTATGATGGGTCGAACA	0.353																																						uc001hbu.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(925-927)ATC>TTC		retinoblastoma binding protein 5							124.0	129.0	127.0					1																	205068922		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205068922T>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.925A>T	1.37:g.205068922T>A	ENSP00000264515:p.Ile309Phe					RBBP5_uc010prd.1_Missense_Mutation_p.I344F|RBBP5_uc001hbv.1_Missense_Mutation_p.I309F|RBBP5_uc010pre.1_Missense_Mutation_p.I176F	p.I309F	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		9	1055	-	Breast(84;0.0505)		309			WD 6.		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.925A>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670483	0.88348	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.26223	1.75;1.75	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);	0.132091	0.64402	D	0.000003	T	0.46054	0.1373	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.76575	0.988;0.972;0.982;0.974	T	0.22591	-1.0212	10	0.41790	T	0.15	.	16.25	0.82478	0.0:0.0:0.0:1.0	.	182;344;309;309	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	309	ENSP00000264515:I309F;ENSP00000356132:I309F	ENSP00000264515:I309F	I	-	1	0	RBBP5	203335545	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.893000	0.87330	2.317000	0.78254	0.460000	0.39030	ATC		PASS	0.353	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		29	59	29	59	---	---	---	---
NUAK2	81788	broad.mit.edu	37	1	205272892	205272892	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:205272892C>T	ENST00000367157.3	-	7	1699	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.D525N(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCGAGTTCATCCAGGGAGCCG	0.642																																						uc001hce.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|stomach(1)|breast(1)	5						c.(1573-1575)GAT>AAT		NUAK family, SNF1-like kinase, 2							30.0	37.0	35.0					1																	205272892		2202	4299	6501	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205272892C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1573G>A	1.37:g.205272892C>T	ENSP00000356125:p.Asp525Asn						p.D525N	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1700	-	Breast(84;0.186)		525						Missense_Mutation	SNP	ENST00000367157.3	37	c.1573G>A	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430933	0.25726	.	.	ENSG00000163545	ENST00000367157	T	0.72942	-0.7	4.86	3.95	0.45737	.	0.142967	0.31734	N	0.007149	T	0.47432	0.1445	N	0.08118	0	0.40093	D	0.976271	B	0.22541	0.071	B	0.20184	0.028	T	0.43081	-0.9413	10	0.51188	T	0.08	.	7.1408	0.25554	0.1688:0.7417:0.0:0.0894	.	525	Q9H093	NUAK2_HUMAN	N	525	ENSP00000356125:D525N	ENSP00000356125:D525N	D	-	1	0	NUAK2	203539515	0.562000	0.26586	0.936000	0.37596	0.020000	0.10135	2.184000	0.42575	1.035000	0.39972	0.407000	0.27541	GAT		PASS	0.642	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		12	12	12	12	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205499823	205499823	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:205499823C>T	ENST00000360066.2	+	15	1681	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.F490F|CDK18_ENST00000429964.2_Silent_p.F460F	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	458							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.F490F(1)|p.F460F(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCTTGGCCTTCCAGCAGCCAG	0.637																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2																			2	Substitution - coding silent(2)		lung(2)	stomach(2)	2						c.(1468-1470)TTC>TTT		PCTAIRE protein kinase 3 isoform a							45.0	44.0	44.0					1																	205499823		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205499823C>T	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1380C>T	1.37:g.205499823C>T						CDK18_uc001hcp.2_Silent_p.F460F|CDK18_uc001hcq.2_Silent_p.F460F|CDK18_uc010prj.1_Silent_p.F371F|CDK18_uc001hcs.2_Silent_p.F371F|CDK18_uc001hct.2_RNA	p.F490F	NM_212503	NP_997668	Q07002	CDK18_HUMAN			15	1689	+			458					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.1470C>T	CCDS44300.1																																																																																				PASS	0.637	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		5	18	5	18	---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205632640	205632640	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:205632640G>A	ENST00000367145.3	-	3	574	c.279C>T	c.(277-279)tcC>tcT	p.S93S	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	93					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S93S(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGATGCCCAAGGACAGTGCCC	0.672			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(2)	4						c.(277-279)TCC>TCT		prostein							22.0	26.0	25.0					1																	205632640		2198	4285	6483	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205632640G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.279C>T	1.37:g.205632640G>A						SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.S93S	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	618	-	Breast(84;0.07)		93			Helical; Name=3; (Potential).		A8K2U9	Silent	SNP	ENST00000367145.3	37	c.279C>T	CCDS1458.1																																																																																				PASS	0.672	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		8	13	8	13	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206634422	206634422	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:206634422G>T	ENST00000414007.1	+	19	2453	c.2453G>T	c.(2452-2454)cGg>cTg	p.R818L				O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	958					actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R818L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AATGAGCTACGGGAACTAGAA	0.557																																						uc001hdy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2611-2613)CGG>CTG		SLIT-ROBO Rho GTPase activating protein 2							57.0	61.0	60.0					1																	206634422		1945	4153	6098	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206634422G>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2453G>T	1.37:g.206634422G>T	ENSP00000390898:p.Arg818Leu					SRGAP2_uc010pru.1_Missense_Mutation_p.R794L	p.R871L	NM_015326	NP_056141	O75044	FNBP2_HUMAN			20	2945	+	Breast(84;0.137)		958			Potential.			Missense_Mutation	SNP	ENST00000414007.1	37	c.2612G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.335046	0.81801	.	.	ENSG00000163486	ENST00000414007	T	0.11930	2.73	6.04	5.12	0.69794	.	0.191357	0.45606	D	0.000358	T	0.30230	0.0758	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	T	0.40403	-0.9565	6	0.87932	D	0	.	14.4256	0.67212	0.0711:0.0:0.9289:0.0	.	.	.	.	L	818	ENSP00000390898:R818L	ENSP00000390898:R818L	R	+	2	0	SRGAP2	204701045	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.664000	0.68045	1.539000	0.49286	0.561000	0.74099	CGG		PASS	0.557	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		4	46	4	46	---	---	---	---
PIGR	5284	broad.mit.edu	37	1	207110615	207110615	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:207110615G>A	ENST00000356495.4	-	4	1053	c.870C>T	c.(868-870)gcC>gcT	p.A290A		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	290	Ig-like V-type 3.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.A290A(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAAAGGCTGGGGCCCTCTTCC	0.607																																						uc001hez.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(868-870)GCC>GCT		polymeric immunoglobulin receptor precursor							80.0	76.0	77.0					1																	207110615		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110615G>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.870C>T	1.37:g.207110615G>A						PIGR_uc009xbz.2_Silent_p.A290A	p.A290A	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1054	-			290			Ig-like V-type 3.|Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.870C>T	CCDS1474.1																																																																																				PASS	0.607	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		17	28	17	28	---	---	---	---
FCAMR	83953	broad.mit.edu	37	1	207140980	207140980	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:207140980C>T	ENST00000324852.4	-	2	530	c.56G>A	c.(55-57)gGa>gAa	p.G19E	FCAMR_ENST00000400962.3_Missense_Mutation_p.G19E|FCAMR_ENST00000450945.2_Missense_Mutation_p.G19E	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	320					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G19E(2)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CACTTCTCTTCCTCTCCTCAC	0.438																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(55-57)GGA>GAA		Fc receptor, IgA, IgM, high affinity isoform 2							193.0	164.0	173.0					1																	207140980		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207140980C>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.56G>A	1.37:g.207140980C>T	ENSP00000316491:p.Gly19Glu					FCAMR_uc001hfb.2_Missense_Mutation_p.G19E|FCAMR_uc009xca.1_Missense_Mutation_p.G19E|FCAMR_uc001hfc.2_Intron	p.G19E	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			2	556	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.56G>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947786	0.34377	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945	T;T;T	0.11821	2.74;3.17;2.74	3.2	-5.82	0.02333	.	.	.	.	.	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41270	-0.9518	7	0.72032	D	0.01	.	11.5708	0.50832	0.0:0.1922:0.0:0.8078	.	.	.	.	E	19	ENSP00000383746:G19E;ENSP00000316491:G19E;ENSP00000392707:G19E	ENSP00000316491:G19E	G	-	2	0	FCAMR	205207603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.464000	0.02359	-1.569000	0.01668	-0.291000	0.09656	GGA		PASS	0.438	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		20	79	20	79	---	---	---	---
C4BPA	722	broad.mit.edu	37	1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393																																						uc001hfo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1249-1251)CCC>CTC		complement component 4 binding protein, alpha							135.0	126.0	129.0					1																	207307914		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207307914C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1250C>T	1.37:g.207307914C>T	ENSP00000356037:p.Pro417Leu						p.P417L	NM_000715	NP_000706	P04003	C4BPA_HUMAN			9	1444	+			417			Sushi 6.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1250C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637841	0.67130	.	.	ENSG00000123838	ENST00000367070	T	0.65916	-0.18	4.67	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.52532	D	0.000075	T	0.75845	0.3905	M	0.73962	2.25	0.29235	N	0.873046	D	0.76494	0.999	D	0.71656	0.974	T	0.70916	-0.4742	10	0.30854	T	0.27	.	13.4317	0.61059	0.0:1.0:0.0:0.0	.	417	P04003	C4BPA_HUMAN	L	417	ENSP00000356037:P417L	ENSP00000356037:P417L	P	+	2	0	C4BPA	205374537	0.113000	0.22115	0.060000	0.19600	0.346000	0.29079	3.092000	0.50207	2.303000	0.77524	0.591000	0.81541	CCC		PASS	0.393	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			24	61	24	61	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207791529	207791529	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:207791529G>A	ENST00000367049.4	+	42	7003	c.7003G>A	c.(7003-7005)Gga>Aga	p.G2335R	CR1_ENST00000367051.1_Missense_Mutation_p.G1885R|CR1_ENST00000367052.1_Missense_Mutation_p.G1885R|CR1_ENST00000367053.1_Missense_Mutation_p.G1885R|CR1_ENST00000400960.2_Missense_Mutation_p.G1885R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1885					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.G2335R(1)|p.G1890R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTGTTAGTGGGAAAGGGCTT	0.443																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5653-5655)GGA>AGA		complement receptor 1 isoform F precursor							227.0	218.0	221.0					1																	207791529		1945	4145	6090	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207791529G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7003G>A	1.37:g.207791529G>A	ENSP00000356016:p.Gly2335Arg					CR1_uc001hfx.2_Missense_Mutation_p.G2335R	p.G1885R	NM_000573	NP_000564	P17927	CR1_HUMAN			34	5793	+			1885			Sushi 29.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5653G>A	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.072145|3.072145	0.55646|0.55646	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.72725|.	-0.68;-0.68;-0.68;-0.68;-0.68|.	4.19|4.19	3.24|3.24	0.37175|0.37175	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|.	0.81983|.	0.4938|.	H|H	0.99545|0.99545	4.62|4.62	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.73357|.	-0.4008|.	9|.	0.49607|.	T|.	0.09|.	.|.	9.2242|9.2242	0.37395|0.37395	0.0:0.0:0.7845:0.2155|0.0:0.0:0.7845:0.2155	.|.	1885;2335|.	P17927;E9PDY4|.	CR1_HUMAN;.|.	R|X	1885;1885;1885;1885;2335|507	ENSP00000356019:G1885R;ENSP00000356018:G1885R;ENSP00000356020:G1885R;ENSP00000383744:G1885R;ENSP00000356016:G2335R|.	ENSP00000356016:G2335R|.	G|W	+|+	1|3	0|0	CR1|CR1	205858152|205858152	0.995000|0.995000	0.38212|0.38212	0.201000|0.201000	0.23476|0.23476	0.925000|0.925000	0.55904|0.55904	3.980000|3.980000	0.56895|0.56895	1.297000|1.297000	0.44761|0.44761	0.563000|0.563000	0.77884|0.77884	GGA|TGG		PASS	0.443	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		29	102	29	102	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208212981	208212981	+	Silent	SNP	G	G	A	rs374437477		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:208212981G>A	ENST00000367033.3	-	24	5242	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1495					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.I1495I(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)		TCTTGTACTCGATCTGCTGCC	0.587																																						uc001hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4483-4485)ATC>ATT		plexin A2 precursor		G		1,4405	2.1+/-5.4	0,1,2202	85.0	88.0	87.0		4485	2.4	1.0	1		87	0,8600		0,0,4300	no	coding-synonymous	PLXNA2	NM_025179.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1495/1895	208212981	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208212981G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4485C>T	1.37:g.208212981G>A							p.I1495I	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	24	5243	-			1495			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.4485C>T	CCDS31013.1																																																																																				PASS	0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		23	40	23	40	---	---	---	---
MIR205HG	642587	broad.mit.edu	37	1	209605512	209605512	+	lincRNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:209605512C>T	ENST00000384891.1	+	0	35					NR_029622.1				MIR205 host gene (non-protein coding)																		CTTCTCTTGTCCTTCATTCCA	0.532																																						hsa-mir-205|MI0000285																			0					0															163.0	118.0	133.0					1																	209605512		2203	4300	6503			406988							g.chr1:209605512C>T			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605512C>T						LOC642587_uc009xcn.2_Intron|LOC642587_uc010psk.1_RNA										+									RNA	SNP	ENST00000384891.1	37	c.35C>T																																																																																					PASS	0.532	MIR205HG-202	KNOWN	basic	miRNA	lincRNA				15	35	15	35	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209935985	209935985	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:209935985G>A	ENST00000367024.1	+	4	987	c.471G>A	c.(469-471)aaG>aaA	p.K157K	TRAF3IP3_ENST00000367025.3_Silent_p.K157K|TRAF3IP3_ENST00000367026.3_Silent_p.K137K|TRAF3IP3_ENST00000400959.3_Silent_p.K137K|TRAF3IP3_ENST00000010338.4_Silent_p.K137K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	157						integral component of membrane (GO:0016021)		p.K137K(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CTCCCATCAAGAAGCCACCCA	0.597																																						uc001hho.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(469-471)AAG>AAA		TRAF3-interacting JNK-activating modulator							55.0	59.0	58.0					1																	209935985		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209935985G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.471G>A	1.37:g.209935985G>A						TRAF3IP3_uc001hhl.2_Silent_p.K137K|TRAF3IP3_uc001hhm.1_Silent_p.K157K|TRAF3IP3_uc001hhn.2_Silent_p.K137K|TRAF3IP3_uc009xcr.2_Silent_p.K157K	p.K157K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	4	761	+			157			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.471G>A	CCDS1490.2																																																																																				PASS	0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			13	33	13	33	---	---	---	---
LPGAT1	9926	broad.mit.edu	37	1	211961039	211961039	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:211961039G>A	ENST00000366997.4	-	4	614	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	LPGAT1_ENST00000366996.1_Missense_Mutation_p.H130Y	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	130					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.H130Y(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TTAAAAATATGATCCATCAAC	0.348																																						uc001hiu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)CAT>TAT		lysophosphatidylglycerol acyltransferase 1							83.0	80.0	81.0					1																	211961039		2203	4300	6503	SO:0001583	missense	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211961039G>A	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.388C>T	1.37:g.211961039G>A	ENSP00000355964:p.His130Tyr					LPGAT1_uc001hiv.2_Missense_Mutation_p.H130Y	p.H130Y	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	4	1201	-			130					Q53YL2	Missense_Mutation	SNP	ENST00000366997.4	37	c.388C>T	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767615	0.31320	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	D;D	0.93076	-3.16;-3.16	5.81	5.81	0.92471	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	N	0.16478	0.41	0.80722	D	1	B	0.29232	0.238	B	0.34873	0.191	D	0.87123	0.2192	10	0.52906	T	0.07	-19.6901	20.0825	0.97783	0.0:0.0:1.0:0.0	.	130	Q92604	LGAT1_HUMAN	Y	130	ENSP00000355964:H130Y;ENSP00000355963:H130Y	ENSP00000355963:H130Y	H	-	1	0	LPGAT1	210027662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.113000	0.94321	2.746000	0.94184	0.655000	0.94253	CAT		PASS	0.348	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		10	28	10	28	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214171001	214171001	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:214171001C>T	ENST00000366958.4	+	2	1731	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	PROX1_ENST00000261454.4_Missense_Mutation_p.P375S|PROX1_ENST00000498508.2_Missense_Mutation_p.P375S|PROX1_ENST00000435016.1_Missense_Mutation_p.P375S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	375					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P375S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCGGCCAAGCCCTCCCGCCA	0.542																																						uc001hkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1123-1125)CCC>TCC		prospero homeobox 1							109.0	108.0	109.0					1																	214171001		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171001C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1123C>T	1.37:g.214171001C>T	ENSP00000355925:p.Pro375Ser					PROX1_uc001hkg.1_Missense_Mutation_p.P375S	p.P375S	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1395	+			375					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1123C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.200003	0.58126	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46451	0.89;0.87;0.89;0.89	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.47016	1.485	0.80722	D	1	P	0.43578	0.811	B	0.43838	0.433	T	0.47947	-0.9077	10	0.72032	D	0.01	-4.6478	19.3843	0.94550	0.0:1.0:0.0:0.0	.	375	Q92786	PROX1_HUMAN	S	375	ENSP00000420283:P375S;ENSP00000355925:P375S;ENSP00000400694:P375S;ENSP00000261454:P375S	ENSP00000261454:P375S	P	+	1	0	PROX1	212237624	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.763000	0.62257	2.574000	0.86865	0.563000	0.77884	CCC		PASS	0.542	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		12	48	12	48	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215821889	215821889	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:215821889G>A	ENST00000307340.3	-	66	14949	c.14563C>T	c.(14563-14565)Ccc>Tcc	p.P4855S	USH2A_ENST00000366943.2_Missense_Mutation_p.P4855S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4855	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P4855S(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)		ACACCATTGGGGAACATGGGG	0.537										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14563-14565)CCC>TCC		usherin isoform B							110.0	104.0	106.0					1																	215821889		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821889G>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.14563C>T	1.37:g.215821889G>A	ENSP00000305941:p.Pro4855Ser	HNSCC(13;0.011)					p.P4855S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14950	-			4855			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14563C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782081	0.49891	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56776	0.44;0.44	5.63	4.7	0.59300	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000564	T	0.70631	0.3246	M	0.80028	2.48	0.54753	D	0.999986	D	0.69078	0.997	D	0.64506	0.926	T	0.70317	-0.4905	10	0.20046	T	0.44	.	16.4444	0.83913	0.0:0.1313:0.8687:0.0	.	4855	O75445	USH2A_HUMAN	S	4855	ENSP00000305941:P4855S;ENSP00000355910:P4855S	ENSP00000305941:P4855S	P	-	1	0	USH2A	213888512	1.000000	0.71417	0.837000	0.33122	0.344000	0.29017	8.316000	0.89985	1.342000	0.45619	0.655000	0.94253	CCC		PASS	0.537	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	33	25	33	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215955428	215955428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:215955428G>A	ENST00000307340.3	-	54	11082	c.10696C>T	c.(10696-10698)Cag>Tag	p.Q3566*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q3566*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3566	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q3566*(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)		GCTTTCAGCTGATATGAATAT	0.433										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.(10696-10698)CAG>TAG		usherin isoform B							96.0	95.0	95.0					1																	215955428		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.chr1:215955428G>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.10696C>T	1.37:g.215955428G>A	ENSP00000305941:p.Gln3566*	HNSCC(13;0.011)					p.Q3566*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11083	-			3566			Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.10696C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	54	22.895520	0.99951	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.86	4.95	0.65309	.	0.165132	0.28612	N	0.014733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.3856	0.87415	0.0:0.1249:0.8751:0.0	.	.	.	.	X	3566	.	ENSP00000305941:Q3566X	Q	-	1	0	USH2A	214022051	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.402000	0.66332	1.612000	0.50221	0.650000	0.86243	CAG		PASS	0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	44	13	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215960216	215960216	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:215960216C>T	ENST00000307340.3	-	52	10569	c.10183G>A	c.(10183-10185)Gaa>Aaa	p.E3395K	USH2A_ENST00000366943.2_Splice_Site_p.E3395K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3395					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.E3395K(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)		TCTTTGGTTTCCTGAGTCAAG	0.433										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10183-10185)GAA>AAA		usherin isoform B							54.0	50.0	52.0					1																	215960216		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:215960216C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10183-1G>A	1.37:g.215960216C>T		HNSCC(13;0.011)					p.E3395K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10570	-			3395			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10183G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739992	0.49045	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12984	2.63;2.63	4.88	4.88	0.63580	Fibronectin, type III (2);	0.154456	0.29868	N	0.010986	T	0.20251	0.0487	M	0.70595	2.14	0.36040	D	0.840052	P	0.50443	0.935	B	0.43194	0.411	T	0.30060	-0.9991	10	0.30078	T	0.28	.	16.2364	0.82377	0.0:1.0:0.0:0.0	.	3395	O75445	USH2A_HUMAN	K	3395	ENSP00000305941:E3395K;ENSP00000355910:E3395K	ENSP00000305941:E3395K	E	-	1	0	USH2A	214026839	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	3.707000	0.54838	2.225000	0.72522	0.655000	0.94253	GAA		PASS	0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Missense_Mutation	5	14	5	14	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220384317	220384317	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:220384317G>A	ENST00000358951.2	-	5	530	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	138					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.I138I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTGCTAGTGGGATACATAGAG	0.313																																						uc010puk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(412-414)ATC>ATT		rab3 GTPase-activating protein, non-catalytic							81.0	86.0	84.0					1																	220384317		2203	4300	6503	SO:0001819	synonymous_variant	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220384317G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.414C>T	1.37:g.220384317G>A						RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Silent_p.I138I	p.I138I	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	5	578	-			138					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	ENST00000358951.2	37	c.414C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	0.908	-0.720101	0.03182	.	.	ENSG00000118873	ENST00000484658	.	.	.	5.13	-0.0796	0.13710	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	5	0.02654	T	1	.	6.7071	0.23257	0.3592:0.0:0.5252:0.1156	.	.	.	.	S	40	.	ENSP00000420156:P70S	P	-	1	0	RAB3GAP2	218450940	0.948000	0.32251	0.995000	0.50966	0.959000	0.62525	0.051000	0.14141	0.033000	0.15463	-0.691000	0.03719	CCC		PASS	0.313	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		5	17	5	17	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222712088	222712088	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:222712088G>A	ENST00000343410.6	-	5	1537	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	493					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.G493G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACTGCATGGCCATAAGCAT	0.473																																						uc001hnh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1477-1479)GGC>GGT		HHIP-like 2 precursor							125.0	103.0	111.0					1																	222712088		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222712088G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1479C>T	1.37:g.222712088G>A							p.G493G	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	5	1537	-			493					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.1479C>T	CCDS1530.2																																																																																				PASS	0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		8	36	8	36	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222742992	222742992	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:222742992C>T	ENST00000352967.4	-	7	942	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TAF1A_ENST00000366890.1_Missense_Mutation_p.D138N|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_Missense_Mutation_p.D138N|TAF1A_ENST00000543857.1_Missense_Mutation_p.D252N|TAF1A_ENST00000350027.4_Missense_Mutation_p.D252N	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	252					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.D252N(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CCATCTCGATCCCCATAGAAT	0.333																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(754-756)GAT>AAT		TBP-associated factor 1A isoform 2							80.0	79.0	79.0					1																	222742992		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222742992C>T	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.754G>A	1.37:g.222742992C>T	ENSP00000327072:p.Asp252Asn					TAF1A_uc001hni.1_Missense_Mutation_p.D138N|TAF1A_uc001hnj.2_Missense_Mutation_p.D252N|TAF1A_uc001hnk.2_Missense_Mutation_p.D138N|TAF1A_uc010pur.1_Missense_Mutation_p.D252N	p.D252N	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	7	943	-			252					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.754G>A	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065680	0.76187	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	6.16	6.16	0.99307	.	0.289500	0.43260	D	0.000592	T	0.66406	0.2786	L	0.59436	1.845	0.42570	D	0.993172	P;D	0.76494	0.865;0.999	P;D	0.69479	0.521;0.964	T	0.61724	-0.7004	10	0.44086	T	0.13	-0.9028	19.6313	0.95704	0.0:1.0:0.0:0.0	.	252;252	B4DS21;Q15573	.;TAF1A_HUMAN	N	138;252;252;138;214;214;252	ENSP00000355856:D138N;ENSP00000339976:D252N;ENSP00000327072:D252N;ENSP00000375754:D138N;ENSP00000375755:D214N;ENSP00000437725:D252N	ENSP00000339976:D252N	D	-	1	0	TAF1A	220809615	0.953000	0.32496	1.000000	0.80357	0.995000	0.86356	1.841000	0.39240	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.333	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		11	17	11	17	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222742994	222742994	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:222742994C>T	ENST00000352967.4	-	7	940	c.752G>A	c.(751-753)gGg>gAg	p.G251E	TAF1A_ENST00000366890.1_Missense_Mutation_p.G137E|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000391882.1_Missense_Mutation_p.G137E|TAF1A_ENST00000543857.1_Missense_Mutation_p.G251E|TAF1A_ENST00000350027.4_Missense_Mutation_p.G251E	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	251					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.G251E(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATCTCGATCCCCATAGAATTC	0.333																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)GGG>GAG		TBP-associated factor 1A isoform 2							76.0	75.0	75.0					1																	222742994		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222742994C>T	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.752G>A	1.37:g.222742994C>T	ENSP00000327072:p.Gly251Glu					TAF1A_uc001hni.1_Missense_Mutation_p.G137E|TAF1A_uc001hnj.2_Missense_Mutation_p.G251E|TAF1A_uc001hnk.2_Missense_Mutation_p.G137E|TAF1A_uc010pur.1_Missense_Mutation_p.G251E	p.G251E	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	7	941	-			251					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.752G>A	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407622	0.25378	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	6.16	5.25	0.73442	.	0.313421	0.40554	N	0.001079	T	0.35189	0.0923	L	0.52905	1.665	0.46631	D	0.999131	P;B	0.35155	0.487;0.119	B;B	0.39503	0.301;0.052	T	0.07558	-1.0766	10	0.09338	T	0.73	-24.1695	7.206	0.25907	0.0:0.7866:0.0:0.2134	.	251;251	B4DS21;Q15573	.;TAF1A_HUMAN	E	137;251;251;137;213;213;251	ENSP00000355856:G137E;ENSP00000339976:G251E;ENSP00000327072:G251E;ENSP00000375754:G137E;ENSP00000375755:G213E;ENSP00000437725:G251E	ENSP00000339976:G251E	G	-	2	0	TAF1A	220809617	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	2.115000	0.41921	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.333	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		12	17	12	17	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223178588	223178588	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:223178588C>T	ENST00000284476.6	+	8	4013	c.3849C>T	c.(3847-3849)ggC>ggT	p.G1283G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1283					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.G1283G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAACTATGGCCCACACTCTT	0.532																																						uc001hnu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3847-3849)GGC>GGT		dispatched A							120.0	110.0	114.0					1																	223178588		2203	4300	6503	SO:0001819	synonymous_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178588C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3849C>T	1.37:g.223178588C>T							p.G1283G	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3996	+			1283					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.3849C>T	CCDS1536.1																																																																																				PASS	0.532	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		36	59	36	59	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225607146	225607146	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:225607146G>A	ENST00000338179.2	-	5	584	c.459C>T	c.(457-459)ttC>ttT	p.F153F	LBR_ENST00000272163.4_Silent_p.F153F|LBR_ENST00000487054.1_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	153					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.F153F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GTGACAAACTGAATTTTTCCT	0.294																																						uc001hoy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(457-459)TTC>TTT		lamin B receptor							55.0	53.0	53.0					1																	225607146		2203	4300	6503	SO:0001819	synonymous_variant	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225607146G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.459C>T	1.37:g.225607146G>A						LBR_uc001hoz.2_Silent_p.F153F|LBR_uc001hpa.1_Silent_p.F153F	p.F153F	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	5	602	-	Breast(184;0.165)		153			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	c.459C>T	CCDS1545.1																																																																																				PASS	0.294	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		7	22	7	22	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228402727	228402727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:228402727C>T	ENST00000422127.1	+	5	1800	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q586*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q586*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	586	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q586*(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGAACTTCCAGTTCCGAGT	0.587																																						uc009xez.1																			4	Substitution - Nonsense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(1756-1758)CAG>TAG		obscurin, cytoskeletal calmodulin and							50.0	61.0	57.0					1																	228402727		2083	4212	6295	SO:0001587	stop_gained	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228402727C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1756C>T	1.37:g.228402727C>T	ENSP00000409493:p.Gln586*					OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q586*|uc001hsm.1_5'Flank	p.Q586*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			5	1800	+		Prostate(94;0.0405)	586			Fibronectin type-III 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.1756C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	40	8.455733	0.98820	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.7619	0.62971	0.0:0.9263:0.0:0.0737	.	.	.	.	X	586	.	ENSP00000284548:Q586X	Q	+	1	0	OBSCN	226469350	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.858000	0.62947	2.622000	0.88805	0.655000	0.94253	CAG		PASS	0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	16	8	16	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228479641	228479641	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:228479641C>T	ENST00000422127.1	+	39	10426	c.10382C>T	c.(10381-10383)gCc>gTc	p.A3461V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A3461V|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3890V|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2308V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A580V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A580V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3461	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A3515V(1)|p.A3461V(1)|p.A3645V(1)|p.A3744V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AATGAAGAGGCCGTGGAAGGG	0.587																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10381-10383)GCC>GTC		obscurin, cytoskeletal calmodulin and							46.0	45.0	46.0					1																	228479641		1930	4135	6065	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479641C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10382C>T	1.37:g.228479641C>T	ENSP00000409493:p.Ala3461Val					OBSCN_uc001hsn.2_Missense_Mutation_p.A3461V|OBSCN_uc001hsq.1_Missense_Mutation_p.A717V	p.A3461V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			39	10426	+		Prostate(94;0.0405)	3461			Ig-like 35.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.10382C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734802	0.48939	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.98	4.08	0.47627	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132624	0.49916	D	0.000128	T	0.58779	0.2146	N	0.16903	0.455	0.22982	N	0.998475	D;D	0.71674	0.998;0.996	D;D	0.83275	0.996;0.953	T	0.49597	-0.8923	10	0.11182	T	0.66	.	9.1213	0.36788	0.0:0.7759:0.1466:0.0774	.	3461;3461	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3461;3461;580;580;2308	ENSP00000284548:A3461V;ENSP00000409493:A3461V;ENSP00000355668:A580V;ENSP00000355670:A580V;ENSP00000352613:A2308V	ENSP00000284548:A3461V	A	+	2	0	OBSCN	226546264	0.009000	0.17119	0.562000	0.28370	0.140000	0.21249	0.040000	0.13905	1.324000	0.45282	0.561000	0.74099	GCC		PASS	0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	34	17	34	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228509746	228509746	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:228509746C>T	ENST00000422127.1	+	55	15248	c.15204C>T	c.(15202-15204)gcC>gcT	p.A5068A	OBSCN_ENST00000284548.11_Silent_p.A5068A|OBSCN_ENST00000570156.2_Silent_p.A6025A|OBSCN_ENST00000366707.4_Silent_p.A2702A|OBSCN_ENST00000366709.4_Silent_p.A2187A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5068					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A5650A(2)|p.A5780A(1)|p.A5068A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACTGAGGCCCGCCAGGCGG	0.607																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(3)|ovary(1)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(15202-15204)GCC>GCT		obscurin, cytoskeletal calmodulin and							29.0	32.0	31.0					1																	228509746		2010	4167	6177	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509746C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15204C>T	1.37:g.228509746C>T						OBSCN_uc001hsn.2_Silent_p.A5068A	p.A5068A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	15248	+		Prostate(94;0.0405)	5068					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.15204C>T	CCDS58065.1																																																																																				PASS	0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	10	5	10	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228553854	228553854	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:228553854G>A	ENST00000422127.1	+	83	19187	c.19143G>A	c.(19141-19143)gaG>gaA	p.E6381E	OBSCN_ENST00000570156.2_Silent_p.E7338E|OBSCN_ENST00000366707.4_Silent_p.E4015E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6381	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E7093E(1)|p.E6963E(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTATCATTGAGGGCGACCCAC	0.652																																						uc009xez.1																			2	Substitution - coding silent(2)		lung(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19141-19143)GAG>GAA		obscurin, cytoskeletal calmodulin and							73.0	80.0	78.0					1																	228553854		2082	4202	6284	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228553854G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19143G>A	1.37:g.228553854G>A						OBSCN_uc001hsr.1_Silent_p.E1010E	p.E6381E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			83	19187	+		Prostate(94;0.0405)	6381			Ig-like 54.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.19143G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255287	0.22965	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.41	0.82	0.18793	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	.	3.3159	0.07032	0.4273:0.0:0.3888:0.184	.	.	.	.	R	998	.	.	G	+	1	0	OBSCN	226620477	0.983000	0.35010	0.997000	0.53966	0.232000	0.25224	0.203000	0.17315	0.204000	0.20548	0.313000	0.20887	GGG		PASS	0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	28	8	28	---	---	---	---
HIST3H2A	92815	broad.mit.edu	37	1	228645439	228645439	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:228645439G>A	ENST00000366695.2	-	1	121	c.80C>T	c.(79-81)cCc>cTc	p.P27L	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	27					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)	p.P27L(1)		endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGGCCCACGGGGAACTGCAG	0.667																																						uc001hsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)CCC>CTC		histone cluster 3, H2a							14.0	17.0	16.0					1																	228645439		2165	4258	6423	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645439G>A	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.80C>T	1.37:g.228645439G>A	ENSP00000355656:p.Pro27Leu					HIST3H2BB_uc001hsz.2_5'Flank	p.P27L	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN			1	122	-		Prostate(94;0.183)	27					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.80C>T	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	19.42	3.824219	0.71143	.	.	ENSG00000181218	ENST00000366695	T	0.75477	-0.94	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.47852	D	0.000209	D	0.92251	0.7542	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95033	0.8171	10	0.87932	D	0	.	14.5656	0.68173	0.0:0.0:1.0:0.0	.	27	Q7L7L0	H2A3_HUMAN	L	27	ENSP00000355656:P27L	ENSP00000355656:P27L	P	-	2	0	HIST3H2A	226712062	1.000000	0.71417	0.793000	0.32043	0.607000	0.37147	9.037000	0.93765	2.549000	0.85964	0.655000	0.94253	CCC		PASS	0.667	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		5	15	5	15	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229663027	229663027	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:229663027G>A	ENST00000344517.4	-	9	1716	c.1674C>T	c.(1672-1674)atC>atT	p.I558I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	558	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			IRQLNP -> NPSAKPS (in Ref. 6; AAA84438). {ECO:0000305}.	transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.I558I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTAGCTGACGGATGTCATGGC	0.428																																						uc001htp.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1672-1674)ATC>ATT		ATP-binding cassette, sub-family B, member 10							130.0	135.0	133.0					1																	229663027		2203	4300	6503	SO:0001819	synonymous_variant	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229663027G>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1674C>T	1.37:g.229663027G>A							p.I558I	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			9	1717	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	558	IRQLNP -> NPSAKPS (in Ref. 6; AAA84438).		Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential).		Q13040|Q6P1Q8|Q9H3V0	Silent	SNP	ENST00000344517.4	37	c.1674C>T	CCDS1580.1																																																																																				PASS	0.428	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		29	63	29	63	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229676480	229676481	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:229676480_229676481CC>TT	ENST00000344517.4	-	5	1117_1118	c.1075_1076GG>AA	c.(1075-1077)GGa>AAa	p.G359K		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	359	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G359K(1)|p.G359R(1)|p.G359E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTACATTTCCAATACGTTCC	0.386																																						uc001htp.3																			3	Substitution - Missense(3)		lung(3)	breast(2)	2						c.(1075-1077)GGA>GAA|c.(1075-1077)GGA>AGA		ATP-binding cassette, sub-family B, member 10																																				SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229676480C>T|g.chr1:229676481C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1075_1076delinsTT	1.37:g.229676480_229676481delinsTT	ENSP00000355637:p.Gly359Lys						p.G359E|p.G359R	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			5	1119|1118	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	359			Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1076G>A|c.1075G>A	CCDS1580.1																																																																																				PASS	0.386	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		12	36|34	12	34	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229685173	229685173	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:229685173C>T	ENST00000344517.4	-	2	568	c.526G>A	c.(526-528)Gga>Aga	p.G176R	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	176	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.G176R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGAGAAATCCAACCGCAGCT	0.498																																						uc001htp.3																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(526-528)GGA>AGA		ATP-binding cassette, sub-family B, member 10							80.0	72.0	75.0					1																	229685173		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229685173C>T	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.526G>A	1.37:g.229685173C>T	ENSP00000355637:p.Gly176Arg						p.G176R	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			2	569	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	176			Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Helical; (Potential).		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.526G>A	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853672	0.71719	.	.	ENSG00000135776	ENST00000344517	D	0.89681	-2.55	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.79123	2.44	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.91968	0.5584	10	0.25106	T	0.35	-25.0871	19.4519	0.94871	0.0:1.0:0.0:0.0	.	176	Q9NRK6	ABCBA_HUMAN	R	176	ENSP00000355637:G176R	ENSP00000355637:G176R	G	-	1	0	ABCB10	227751796	1.000000	0.71417	0.996000	0.52242	0.705000	0.40729	7.498000	0.81546	2.606000	0.88127	0.591000	0.81541	GGA		PASS	0.498	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		4	11	4	11	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230827218	230827218	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:230827218C>T	ENST00000366669.4	+	17	2138	c.2023C>T	c.(2023-2025)Ccc>Tcc	p.P675S	COG2_ENST00000546013.1_Missense_Mutation_p.P364S|COG2_ENST00000534989.1_Missense_Mutation_p.P616S|COG2_ENST00000366668.3_Missense_Mutation_p.P674S|COG2_ENST00000535166.1_Missense_Mutation_p.P559S	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	675					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.P675S(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AAAAACCACTCCCGCCAACCC	0.498																																						uc001htw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2023-2025)CCC>TCC		component of oligomeric golgi complex 2 isoform							67.0	70.0	69.0					1																	230827218		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230827218C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.2023C>T	1.37:g.230827218C>T	ENSP00000355629:p.Pro675Ser					COG2_uc001htx.2_Missense_Mutation_p.P674S|COG2_uc010pwc.1_Missense_Mutation_p.P548S	p.P675S	NM_007357	NP_031383	Q14746	COG2_HUMAN			17	2174	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	675					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.2023C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	4.141	0.024569	0.08054	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.59	-6.06	0.02165	COG complex component, COG2, C-terminal (1);	0.691743	0.15867	N	0.240732	T	0.12305	0.0299	N	0.20766	0.605	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37798	-0.9690	10	0.02654	T	1	-0.7098	3.5809	0.07952	0.1203:0.1317:0.4204:0.3276	.	674;675	Q86U99;Q14746	.;COG2_HUMAN	S	675;559;674;616;364	ENSP00000355629:P675S;ENSP00000445724:P559S;ENSP00000355628:P674S;ENSP00000440349:P616S;ENSP00000442147:P364S	ENSP00000355628:P674S	P	+	1	0	COG2	228893841	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.401000	0.07232	-0.665000	0.05317	-0.304000	0.09214	CCC		PASS	0.498	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		7	36	7	36	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231069594	231069594	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:231069594G>A	ENST00000366661.4	-	9	921	c.914C>T	c.(913-915)tCc>tTc	p.S305F	TTC13_ENST00000366662.4_Missense_Mutation_p.S252F|TTC13_ENST00000414259.1_Missense_Mutation_p.S252F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	305								p.S305F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCTTTGAAGGATTCAATAGC	0.289																																						uc001huf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(913-915)TCC>TTC		tetratricopeptide repeat domain 13 isoform a							55.0	58.0	57.0					1																	231069594		2203	4299	6502	SO:0001583	missense	79573						binding	g.chr1:231069594G>A		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.914C>T	1.37:g.231069594G>A	ENSP00000355621:p.Ser305Phe					TTC13_uc009xfi.2_Missense_Mutation_p.S252F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.S252F|TTC13_uc009xfk.1_Missense_Mutation_p.S195F	p.S305F	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	9	945	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	305			TPR 4.		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.914C>T	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.154357|4.154357	0.78114|0.78114	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000522821|ENST00000366661;ENST00000366662;ENST00000414259	.|T;T;T	.|0.59364	.|0.27;1.16;1.16	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.226335	.|0.47455	.|D	.|0.000226	T|T	0.56093|0.56093	0.1962|0.1962	N|N	0.25890|0.25890	0.77|0.77	0.44976|0.44976	D|D	0.997992|0.997992	.|P;P;P;P	.|0.48764	.|0.675;0.873;0.478;0.915	.|P;P;B;P	.|0.49387	.|0.486;0.522;0.101;0.609	T|T	0.51148|0.51148	-0.8742|-0.8742	6|10	0.87932|0.30078	D|T	0|0.28	-4.9041|-4.9041	19.7376|19.7376	0.96214|0.96214	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|230;252;252;305	.|Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.|.;.;.;TTC13_HUMAN	S|F	165|305;252;252	.|ENSP00000355621:S305F;ENSP00000355622:S252F;ENSP00000416631:S252F	ENSP00000430280:P251S|ENSP00000355621:S305F	P|S	-|-	1|2	0|0	TTC13|TTC13	229136217|229136217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.504000|7.504000	0.81646|0.81646	2.657000|2.657000	0.90304|0.90304	0.563000|0.563000	0.77884|0.77884	CCT|TCC		PASS	0.289	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		16	18	16	18	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233150490	233150490	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:233150490G>A	ENST00000258229.9	-	28	5107	c.4873C>T	c.(4873-4875)Ccc>Tcc	p.P1625S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P277S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1625						integral component of membrane (GO:0016021)		p.P1625S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTCACCAAGGGAGAGTCCTCG	0.527																																						uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(4873-4875)CCC>TCC		pecanex-like 2							94.0	94.0	94.0					1																	233150490		1998	4174	6172	SO:0001583	missense	80003					integral to membrane		g.chr1:233150490G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4873C>T	1.37:g.233150490G>A	ENSP00000258229:p.Pro1625Ser					PCNXL2_uc001hvk.1_Missense_Mutation_p.P277S|PCNXL2_uc001hvm.1_RNA	p.P1625S	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			28	5108	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1625					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.4873C>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500952	0.26861	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.41758	0.99;0.99	5.38	1.22	0.21188	.	0.477077	0.25202	N	0.032366	T	0.28599	0.0708	L	0.55834	1.745	0.80722	D	1	B;B	0.32302	0.031;0.363	B;B	0.33295	0.032;0.161	T	0.07385	-1.0775	10	0.10377	T	0.69	.	3.1799	0.06581	0.143:0.2665:0.4603:0.1302	.	1625;277	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	277;1625	ENSP00000340759:P277S;ENSP00000258229:P1625S	ENSP00000258229:P1625S	P	-	1	0	PCNXL2	231217113	0.999000	0.42202	0.002000	0.10522	0.746000	0.42486	2.021000	0.41020	-0.030000	0.13804	0.514000	0.50259	CCC		PASS	0.527	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		16	28	16	28	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235967923	235967923	+	Missense_Mutation	SNP	G	G	A	rs560104191	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:235967923G>A	ENST00000389794.3	-	7	3610	c.3436C>T	c.(3436-3438)Ctt>Ttt	p.L1146F	LYST_ENST00000536965.1_Missense_Mutation_p.L1146F|LYST_ENST00000389793.2_Missense_Mutation_p.L1146F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1146					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L1146F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GACTGGGAAAGATGGTCCCTC	0.333													G|||	3	0.000599042	0.0	0.0	5008	,	,		17276	0.0		0.0	False		,,,				2504	0.0031					uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(3436-3438)CTT>TTT		lysosomal trafficking regulator							110.0	109.0	109.0					1																	235967923		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235967923G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3436C>T	1.37:g.235967923G>A	ENSP00000374444:p.Leu1146Phe					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L1146F	p.L1146F	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		7	3611	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1146					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3436C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041275	0.75732	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.71698	-0.59;-0.59;0.41	5.65	5.65	0.86999	.	0.055262	0.85682	D	0.000000	T	0.64483	0.2602	L	0.39397	1.21	0.54753	D	0.999985	P;P	0.38729	0.644;0.593	B;B	0.39805	0.31;0.267	T	0.66122	-0.6002	10	0.51188	T	0.08	.	13.3313	0.60488	0.0722:0.0:0.9278:0.0	.	1146;1146	Q99698-3;Q99698	.;LYST_HUMAN	F	1146	ENSP00000374444:L1146F;ENSP00000374443:L1146F;ENSP00000438315:L1146F	ENSP00000374443:L1146F	L	-	1	0	LYST	234034546	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.059000	0.76684	2.827000	0.97445	0.650000	0.86243	CTT		PASS	0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			20	39	20	39	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237540665	237540665	+	Missense_Mutation	SNP	G	G	A	rs397516539		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:237540665G>A	ENST00000366574.2	+	8	823	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R153Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R167Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	169					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R167Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTAAGCAGCGATCAGAAGGA	0.418																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	GRCh37	CM065450	RYR2	M		c.(505-507)CGA>CAA		cardiac muscle ryanodine receptor							131.0	128.0	129.0					1																	237540665		1959	4141	6100	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540665G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.506G>A	1.37:g.237540665G>A	ENSP00000355533:p.Arg169Gln						p.R169Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	626	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	169			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.506G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740022	0.96873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98889	-5.21;-5.21;-5.21	5.17	5.17	0.71159	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.52532	D	0.000061	D	0.99020	0.9665	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	D	0.99737	1.1014	10	0.87932	D	0	.	17.8122	0.88619	0.0:0.0:1.0:0.0	.	169	Q92736	RYR2_HUMAN	Q	169;167;153	ENSP00000355533:R169Q;ENSP00000353174:R167Q;ENSP00000443798:R153Q	ENSP00000353174:R167Q	R	+	2	0	RYR2	235607288	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.433000	0.97501	2.577000	0.86979	0.557000	0.71058	CGA		PASS	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	25	20	25	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237659980	237659980	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:237659980G>A	ENST00000366574.2	+	20	2448	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	RYR2_ENST00000542537.1_Missense_Mutation_p.E695K|RYR2_ENST00000360064.6_Missense_Mutation_p.E709K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	711	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E709K(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAGGGGGCGAAGAGTGGGG	0.522																																						uc001hyl.1																			2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2131-2133)GAA>AAA		cardiac muscle ryanodine receptor							131.0	136.0	134.0					1																	237659980		1947	4152	6099	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659980G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2131G>A	1.37:g.237659980G>A	ENSP00000355533:p.Glu711Lys						p.E711K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2251	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	711			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2131G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182751	0.78677	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68903	-0.36;-0.36;-0.36	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.080643	0.45867	D	0.000324	T	0.66761	0.2822	M	0.62266	1.93	0.80722	D	1	P	0.37985	0.613	B	0.35312	0.2	T	0.65747	-0.6093	10	0.38643	T	0.18	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	711	Q92736	RYR2_HUMAN	K	711;709;695	ENSP00000355533:E711K;ENSP00000353174:E709K;ENSP00000443798:E695K	ENSP00000353174:E709K	E	+	1	0	RYR2	235726603	1.000000	0.71417	0.600000	0.28864	0.997000	0.91878	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GAA		PASS	0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	52	24	52	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777985	237777985	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:237777985G>A	ENST00000366574.2	+	37	5874	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5557-5559)GAA>AAA		cardiac muscle ryanodine receptor							55.0	58.0	57.0					1																	237777985		1993	4188	6181	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777985G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5557G>A	1.37:g.237777985G>A	ENSP00000355533:p.Glu1853Lys						p.E1853K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5677	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1853			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5557G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179958	0.78564	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73152	-0.72;-0.72;-0.72	5.62	5.62	0.85841	.	0.184624	0.32719	N	0.005738	T	0.73489	0.3593	L	0.42744	1.35	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.75648	-0.3245	10	0.62326	D	0.03	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1853	Q92736	RYR2_HUMAN	K	1853;1851;1837	ENSP00000355533:E1853K;ENSP00000353174:E1851K;ENSP00000443798:E1837K	ENSP00000353174:E1851K	E	+	1	0	RYR2	235844608	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.901000	0.87382	2.665000	0.90641	0.650000	0.86243	GAA		PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	23	6	23	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240071961	240071961	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:240071961A>C	ENST00000255380.4	+	5	1989	c.1210A>C	c.(1210-1212)Aaa>Caa	p.K404Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	404					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.K404Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTTGGAGAGGAAAGCCGACAA	0.577																																						uc001hyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1210-1212)AAA>CAA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						44.0	39.0	40.0					1																	240071961		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071961A>C	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1210A>C	1.37:g.240071961A>C	ENSP00000255380:p.Lys404Gln						p.K404Q	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1989	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	404			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1210A>C	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	A	0.520	-0.862529	0.02610	.	.	ENSG00000133019	ENST00000255380	T	0.59224	0.28	5.97	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.296362	0.37012	N	0.002284	T	0.34135	0.0887	N	0.04203	-0.255	0.09310	N	1	B	0.21071	0.051	B	0.29267	0.1	T	0.18587	-1.0332	10	0.14656	T	0.56	-5.1109	11.5219	0.50555	0.9307:0.0:0.0693:0.0	.	404	P20309	ACM3_HUMAN	Q	404	ENSP00000255380:K404Q	ENSP00000255380:K404Q	K	+	1	0	CHRM3	238138584	0.987000	0.35691	0.510000	0.27712	0.051000	0.14879	3.013000	0.49582	2.281000	0.76405	0.533000	0.62120	AAA		PASS	0.577	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		12	11	12	11	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370099	240370099	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:240370099G>A	ENST00000319653.9	+	5	2217	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	663					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.E806K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGCCCTTCAGGAAGTTGTTGA	0.393																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1987-1989)GAA>AAA		formin 2							43.0	45.0	45.0					1																	240370099		2202	4297	6499	SO:0001630	splice_region_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370099G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1987-1G>A	1.37:g.240370099G>A						FMN2_uc010pye.1_Missense_Mutation_p.E667K	p.E663K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2212	+	Ovarian(103;0.127)	all_cancers(173;0.013)	663					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1987G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278826	0.40294	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.79247	-1.25;-1.25	5.85	5.85	0.93711	.	0.392618	0.24463	N	0.038303	T	0.74084	0.3670	L	0.48642	1.525	0.80722	D	1	P	0.39665	0.682	B	0.37239	0.244	T	0.71935	-0.4442	9	.	.	.	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	663	Q9NZ56	FMN2_HUMAN	K	100;663	ENSP00000409308:E100K;ENSP00000318884:E663K	.	E	+	1	0	FMN2	238436722	1.000000	0.71417	0.975000	0.42487	0.092000	0.18411	6.247000	0.72411	2.768000	0.95171	0.655000	0.94253	GAA		PASS	0.393	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Missense_Mutation	6	20	6	20	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371850	240371851	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:240371850_240371851CC>TT	ENST00000319653.9	+	5	3968_3969	c.3738_3739CC>TT	c.(3736-3741)ctCCca>ctTTca	p.P1247S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1247	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1390S(2)|p.L1389L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCACTCCTCCCACAAGTTGG	0.564																																						uc010pyd.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3736-3738)CTC>CTT|c.(3739-3741)CCA>TCA		formin 2																																				SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371850C>T|g.chr1:240371851C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	Exception_encountered	1.37:g.240371850_240371851delinsTT	ENSP00000318884:p.Pro1247Ser					FMN2_uc010pye.1_Silent_p.L1250L|FMN2_uc010pye.1_Missense_Mutation_p.P1251S	p.L1246L|p.P1247S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3963|3964	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1246|1247			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent|Missense_Mutation	SNP	ENST00000319653.9	37	c.3738C>T|c.3739C>T	CCDS31069.2																																																																																				PASS	0.564	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8|9	26|27	8	26	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240497239	240497239	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:240497239T>A	ENST00000319653.9	+	12	4867	c.4637T>A	c.(4636-4638)tTt>tAt	p.F1546Y	FMN2_ENST00000545751.1_Missense_Mutation_p.F142Y	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1546	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.F1689Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCGAAATTTTGATGAGGTA	0.299																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4636-4638)TTT>TAT		formin 2							54.0	53.0	53.0					1																	240497239		2203	4298	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240497239T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4637T>A	1.37:g.240497239T>A	ENSP00000318884:p.Phe1546Tyr					FMN2_uc010pye.1_Missense_Mutation_p.F1550Y|FMN2_uc010pyf.1_Missense_Mutation_p.F192Y|FMN2_uc010pyg.1_Missense_Mutation_p.F142Y	p.F1546Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		12	4862	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1546			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4637T>A	CCDS31069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.126237|4.126237	0.77549|0.77549	.|.	.|.	ENSG00000155816|ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355|ENST00000406993	T;T|.	0.42900|.	0.96;0.96|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	D;B;D;P|.	0.63880|.	0.993;0.165;0.973;0.749|.	P;B;P;P|.	0.60949|.	0.881;0.121;0.854;0.725|.	T|T	0.59289|0.59289	-0.7482|-0.7482	10|6	0.11485|0.37606	T|T	0.65|0.19	.|.	16.0623|16.0623	0.80847|0.80847	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	142;192;175;1546|.	B4DP05;F5H2C1;B4DN09;Q9NZ56|.	.;.;.;FMN2_HUMAN|.	Y|M	1546;142;173|23	ENSP00000318884:F1546Y;ENSP00000437918:F142Y|.	ENSP00000318884:F1546Y|ENSP00000384983:L23M	F|L	+|+	2|1	0|2	FMN2|FMN2	238563862|238563862	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.761000|7.761000	0.85260|0.85260	2.195000|2.195000	0.70347|0.70347	0.533000|0.533000	0.62120|0.62120	TTT|TTG		PASS	0.299	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	19	7	19	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241886653	241886653	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:241886653G>A	ENST00000366552.2	+	9	1286	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	WDR64_ENST00000437684.2_Missense_Mutation_p.G360E	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	360								p.G360E(1)|p.G80E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAGCCAGTAGGGAAACTTGTA	0.448																																						uc001hze.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1078-1080)GGG>GAG		RecName: Full=WD repeat-containing protein 64;							114.0	106.0	109.0					1																	241886653		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241886653G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1079G>A	1.37:g.241886653G>A	ENSP00000355510:p.Gly360Glu					WDR64_uc001hzf.1_Missense_Mutation_p.G80E	p.G360E			B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1286	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	360			WD 3.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	G	15.77	2.931217	0.52866	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.39592	1.58;1.07;5.0	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000023	T	0.63977	0.2557	M	0.76574	2.34	0.40858	D	0.983817	D	0.89917	1.0	D	0.91635	0.999	T	0.67616	-0.5625	10	0.51188	T	0.08	-20.0148	14.9266	0.70884	0.0:0.0:1.0:0.0	.	80	D1MPS4	.	E	360;360;131	ENSP00000355510:G360E;ENSP00000402446:G360E;ENSP00000406656:G131E	ENSP00000355510:G360E	G	+	2	0	WDR64	239953276	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	5.541000	0.67212	2.308000	0.77769	0.563000	0.77884	GGG		PASS	0.448	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		9	34	9	34	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241953957	241953957	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:241953957G>A	ENST00000366552.2	+	24	3133	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	WDR64_ENST00000437684.2_Missense_Mutation_p.E809K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	976								p.E529K(1)|p.E976K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTGAAGTGGAACAGGATTT	0.348																																						uc001hzf.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1585-1587)GAA>AAA		WD repeat domain 64							159.0	165.0	163.0					1																	241953957		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241953957G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2926G>A	1.37:g.241953957G>A	ENSP00000355510:p.Glu976Lys					WDR64_uc001hzg.1_Missense_Mutation_p.E442K	p.E529K	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		14	1738	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	976					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1585G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.206|9.206	1.029632|1.029632	0.19512|0.19512	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.38240|.	1.32;1.15;1.15|.	5.18|5.18	2.1|2.1	0.27182|0.27182	.|.	1.040590|.	0.07547|.	N|.	0.914857|.	T|.	0.35248|.	0.0925|.	L|L	0.36672|0.36672	1.1|1.1	0.22521|0.22521	N|N	0.99903|0.99903	B;B|.	0.24533|.	0.105;0.099|.	B;B|.	0.27608|.	0.036;0.081|.	T|.	0.22243|.	-1.0222|.	10|.	0.13853|.	T|.	0.58|.	-14.7188|-14.7188	8.8365|8.8365	0.35115|0.35115	0.0844:0.2831:0.6325:0.0|0.0844:0.2831:0.6325:0.0	.|.	976;529|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	K|X	976;809;580|454	ENSP00000355510:E976K;ENSP00000402446:E809K;ENSP00000406656:E580K|.	ENSP00000355510:E976K|.	E|W	+|+	1|3	0|0	WDR64|WDR64	240020580|240020580	0.994000|0.994000	0.37717|0.37717	0.988000|0.988000	0.46212|0.46212	0.507000|0.507000	0.33981|0.33981	1.308000|1.308000	0.33528|0.33528	0.626000|0.626000	0.30322|0.30322	0.655000|0.655000	0.94253|0.94253	GAA|TGG		PASS	0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		13	72	13	72	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242042543	242042543	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:242042543A>C	ENST00000366548.3	+	13	2600	c.2007A>C	c.(2005-2007)gaA>gaC	p.E669D	EXO1_ENST00000348581.5_Missense_Mutation_p.E669D|EXO1_ENST00000518483.1_Missense_Mutation_p.E669D	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	669	Interaction with MSH2.				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.E669D(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)			CCTTACGAGAAGAGGCATGTT	0.468								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(2005-2007)GAA>GAC	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							61.0	62.0	62.0					1																	242042543		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042543A>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.2007A>C	1.37:g.242042543A>C	ENSP00000355506:p.Glu669Asp					EXO1_uc001hzi.2_Missense_Mutation_p.E669D|EXO1_uc001hzj.2_Missense_Mutation_p.E669D|EXO1_uc009xgq.2_Missense_Mutation_p.E668D	p.E669D	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2547	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	669			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2007A>C	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860788	0.32884	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.49139	0.79;0.79;0.79	5.42	-5.7	0.02421	.	0.597747	0.18373	N	0.143197	T	0.24005	0.0581	L	0.38531	1.155	0.09310	N	1	B;B;B	0.18310	0.027;0.011;0.007	B;B;B	0.16289	0.012;0.015;0.006	T	0.08785	-1.0705	10	0.33940	T	0.23	-21.881	0.3673	0.00374	0.2989:0.227:0.1419:0.3322	.	668;669;669	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	D	669	ENSP00000355506:E669D;ENSP00000311873:E669D;ENSP00000430251:E669D	ENSP00000311873:E669D	E	+	3	2	EXO1	240109166	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.112000	0.15479	-0.794000	0.04468	0.528000	0.53228	GAA		PASS	0.468	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		20	38	20	38	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:242253243C>T	ENST00000536534.2	-	10	1765	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	PLD5_ENST00000442594.2_Silent_p.P416P|PLD5_ENST00000427495.1_Silent_p.P446P			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453																																						uc001hzn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(6)	6						c.(1522-1524)CCG>CCA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							253.0	236.0	242.0					1																	242253243		2203	4300	6503	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242253243C>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1524G>A	1.37:g.242253243C>T						PLD5_uc001hzl.3_Silent_p.P446P|PLD5_uc001hzm.3_Silent_p.P298P|PLD5_uc001hzo.1_Silent_p.P416P	p.P508P			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1651	-	Melanoma(84;0.242)		508					A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.1524G>A	CCDS1621.2																																																																																				PASS	0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		30	78	30	78	---	---	---	---
AKT3	10000	broad.mit.edu	37	1	243809233	243809233	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:243809233C>T	ENST00000366539.1	-	5	591	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	AKT3_ENST00000336199.5_Missense_Mutation_p.E131K|AKT3_ENST00000366540.1_Missense_Mutation_p.E131K|AKT3_ENST00000263826.5_Missense_Mutation_p.E131K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	131					mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E131K(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TCCATCTCTTCCTCTCCTATA	0.388																																						uc001iab.1																			3	Substitution - Missense(3)		lung(3)	stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(391-393)GAA>AAA		AKT3 kinase isoform 1							189.0	183.0	185.0					1																	243809233		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243809233C>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.391G>A	1.37:g.243809233C>T	ENSP00000355497:p.Glu131Lys					AKT3_uc001hzz.1_Missense_Mutation_p.E131K	p.E131K	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		4	472	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	131					Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.391G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751260	0.69533	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;2.2	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	N	0.08118	0	0.58432	D	0.999996	B;B	0.16396	0.017;0.016	B;B	0.15870	0.009;0.014	T	0.05869	-1.0859	10	0.22109	T	0.4	.	18.519	0.90944	0.0:1.0:0.0:0.0	.	131;131	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	K	131	ENSP00000336943:E131K;ENSP00000355498:E131K;ENSP00000355497:E131K;ENSP00000263826:E131K;ENSP00000447820:E131K	ENSP00000263826:E131K	E	-	1	0	AKT3	241875856	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.050000	0.71063	2.361000	0.80049	0.591000	0.81541	GAA		PASS	0.388	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		10	19	10	19	---	---	---	---
SCCPDH	51097	broad.mit.edu	37	1	246922380	246922380	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:246922380C>T	ENST00000366510.3	+	7	1116	c.740C>T	c.(739-741)cCt>cTt	p.P247L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	247						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.P247L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TATTCCATTCCTTTTATGGGA	0.363																																						uc001ibr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)CCT>CTT		saccharopine dehydrogenase (putative)							224.0	220.0	221.0					1																	246922380		2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246922380C>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.740C>T	1.37:g.246922380C>T	ENSP00000355467:p.Pro247Leu						p.P247L	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	7	1087	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	247					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.740C>T	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848366	0.71603	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.40225	1.04	6.16	6.16	0.99307	.	0.045006	0.85682	D	0.000000	T	0.68302	0.2986	M	0.86573	2.825	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	T	0.71695	-0.4515	10	0.62326	D	0.03	.	14.6208	0.68582	0.0:0.9303:0.0:0.0697	.	247	Q8NBX0	SCPDL_HUMAN	L	247;78	ENSP00000355467:P247L	ENSP00000355466:P78L	P	+	2	0	SCCPDH	244989003	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	4.772000	0.62324	2.937000	0.99478	0.650000	0.86243	CCT		PASS	0.363	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		26	71	26	71	---	---	---	---
ZNF669	79862	broad.mit.edu	37	1	247264612	247264612	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247264612G>A	ENST00000343381.6	-	4	631	c.459C>T	c.(457-459)atC>atT	p.I153I	ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000448299.2_Silent_p.I67I|ZNF669_ENST00000358785.4_Missense_Mutation_p.S133L|ZNF669_ENST00000366500.1_Missense_Mutation_p.S47L	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	153	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.I153I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTCTCTGTACGATATGATTTC	0.328																																						uc001ice.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)ATC>ATT		zinc finger protein 669 isoform 1							151.0	145.0	147.0					1																	247264612		1970	4155	6125	SO:0001819	synonymous_variant	79862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247264612G>A		CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.459C>T	1.37:g.247264612G>A						ZNF669_uc001icf.2_Silent_p.I67I	p.I153I	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	632	-	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		153			KRAB.		B3KP94|Q5VT39|Q9H9Q6	Silent	SNP	ENST00000343381.6	37	c.459C>T	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663510	0.00772	.	.	ENSG00000188295	ENST00000358785;ENST00000366500;ENST00000476158	T;T;T	0.00724	5.78;5.78;5.78	0.544	-1.09	0.09904	.	.	.	.	.	T	0.00666	0.0022	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45498	-0.9257	6	0.27785	T	0.31	.	3.7206	0.08454	0.0:0.2661:0.5043:0.2295	.	.	.	.	L	133;47;133	ENSP00000351636:S133L;ENSP00000355456:S47L;ENSP00000429550:S133L	ENSP00000351636:S133L	S	-	2	0	ZNF669	245331235	0.000000	0.05858	0.018000	0.16275	0.193000	0.23685	-4.797000	0.00184	-1.172000	0.02762	-1.154000	0.01816	TCG		PASS	0.328	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804		25	36	25	36	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588388	247588388	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247588388G>A	ENST00000336119.3	+	3	2389	c.1643G>A	c.(1642-1644)gGg>gAg	p.G548E	NLRP3_ENST00000391827.2_Missense_Mutation_p.G548E|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.G548E|NLRP3_ENST00000391828.3_Missense_Mutation_p.G548E|NLRP3_ENST00000366497.2_Missense_Mutation_p.G548E|NLRP3_ENST00000366496.2_Missense_Mutation_p.G548E	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	548					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.G548E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACGTTCCAGGGAGTCGTTTG	0.463																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1642-1644)GGG>GAG		NLR family, pyrin domain containing 3 isoform a							53.0	48.0	50.0					1																	247588388		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588388G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1643G>A	1.37:g.247588388G>A	ENSP00000337383:p.Gly548Glu					NLRP3_uc001ics.2_Missense_Mutation_p.G548E|NLRP3_uc001icu.2_Missense_Mutation_p.G548E|NLRP3_uc001icw.2_Missense_Mutation_p.G548E|NLRP3_uc001icv.2_Missense_Mutation_p.G548E|NLRP3_uc010pyw.1_Missense_Mutation_p.G546E|NLRP3_uc001ict.1_Missense_Mutation_p.G546E	p.G548E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1781	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	548					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1643G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	3.124	-0.179812	0.06380	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.17	-8.33	0.00992	.	2.628540	0.00963	N	0.003123	T	0.68943	0.3056	N	0.02751	-0.505	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.002;0.003;0.003;0.001	B;B;B;B;B	0.15484	0.002;0.013;0.004;0.003;0.001	T	0.70641	-0.4816	10	0.07175	T	0.84	.	0.8206	0.01111	0.3154:0.3146:0.1579:0.212	.	548;548;548;548;548	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	E	548	ENSP00000375704:G548E;ENSP00000355453:G548E;ENSP00000337383:G548E;ENSP00000294752:G548E;ENSP00000355452:G548E;ENSP00000375703:G548E	ENSP00000337383:G548E	G	+	2	0	NLRP3	245655011	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.810000	0.00183	-2.010000	0.00953	0.655000	0.94253	GGG		PASS	0.463	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		3	17	3	17	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247607969	247607969	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247607969C>T	ENST00000336119.3	+	8	3603	c.2857C>T	c.(2857-2859)Ctc>Ttc	p.L953F	NLRP3_ENST00000391827.2_Missense_Mutation_p.L896F|NLRP3_ENST00000348069.2_Missense_Mutation_p.L839F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L953F|NLRP3_ENST00000366497.2_Missense_Mutation_p.L896F|NLRP3_ENST00000366496.2_Missense_Mutation_p.L896F	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	953					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L953F(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAACTGCAACCTCACGTCACA	0.522																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2857-2859)CTC>TTC		NLR family, pyrin domain containing 3 isoform a							74.0	68.0	70.0					1																	247607969		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607969C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2857C>T	1.37:g.247607969C>T	ENSP00000337383:p.Leu953Phe					NLRP3_uc001ics.2_Missense_Mutation_p.L896F|NLRP3_uc001icu.2_Missense_Mutation_p.L953F|NLRP3_uc001icw.2_Missense_Mutation_p.L896F|NLRP3_uc001icv.2_Missense_Mutation_p.L839F|NLRP3_uc010pyw.1_Missense_Mutation_p.L931F	p.L953F	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		10	2995	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	953			LRR 8.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2857C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352250	0.61183	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	4.71	4.71	0.59529	.	0.000000	0.43260	D	0.000583	T	0.70833	0.3269	L	0.61218	1.895	0.37068	D	0.89839	P;D;D;D;D	0.89917	0.93;0.997;0.998;1.0;0.978	P;P;D;D;P	0.70227	0.659;0.514;0.968;0.944;0.867	T	0.73754	-0.3883	10	0.39692	T	0.17	.	13.896	0.63773	0.0:1.0:0.0:0.0	.	933;896;839;896;953	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	F	953;896;953;839;896;896	ENSP00000375704:L953F;ENSP00000355453:L896F;ENSP00000337383:L953F;ENSP00000294752:L839F;ENSP00000355452:L896F;ENSP00000375703:L896F	ENSP00000337383:L953F	L	+	1	0	NLRP3	245674592	0.969000	0.33509	0.998000	0.56505	0.762000	0.43233	2.310000	0.43708	2.547000	0.85894	0.549000	0.68633	CTC		PASS	0.522	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	16	8	16	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752441	247752441	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247752441C>T	ENST00000320065.1	+	1	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F260F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ccatcatcttcatgtatctgc	0.473																																						uc010pyy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)TTC>TTT		olfactory receptor, family 2, subfamily G,							137.0	124.0	128.0					1																	247752441		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752441C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.780C>T	1.37:g.247752441C>T							p.F260F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	780	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		260			Helical; Name=6; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.780C>T	CCDS31092.1																																																																																				PASS	0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			45	61	45	61	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920818	247920818	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247920818C>T	ENST00000408896.2	-	1	1164	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	297					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.M297I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTCCCCTCTTCATATCCCTGT	0.428																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(889-891)ATG>ATA		olfactory receptor, family 1, subfamily C,							147.0	136.0	139.0					1																	247920818		1908	4136	6044	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920818C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.891G>A	1.37:g.247920818C>T	ENSP00000386138:p.Met297Ile						p.M297I	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	891	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	297			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.891G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	0.943	-0.708916	0.03230	.	.	ENSG00000221888	ENST00000408896	T	0.34859	1.34	3.22	3.22	0.36961	.	.	.	.	.	T	0.17450	0.0419	N	0.10645	0.015	0.09310	N	1	B	0.20887	0.049	B	0.29942	0.109	T	0.26677	-1.0096	9	0.02654	T	1	.	9.2932	0.37800	0.2157:0.7843:0.0:0.0	.	297	Q15619	OR1C1_HUMAN	I	297	ENSP00000386138:M297I	ENSP00000386138:M297I	M	-	3	0	OR1C1	245987441	0.002000	0.14202	0.257000	0.24404	0.202000	0.24057	-1.072000	0.03434	1.798000	0.52647	0.591000	0.81541	ATG		PASS	0.428	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			19	57	19	57	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921615	247921615	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247921615G>A	ENST00000408896.2	-	1	367	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	32					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.L32F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TACATACAGAGAAAGAGCACA	0.463																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(94-96)CTC>TTC		olfactory receptor, family 1, subfamily C,							54.0	55.0	54.0					1																	247921615		2075	4210	6285	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921615G>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.94C>T	1.37:g.247921615G>A	ENSP00000386138:p.Leu32Phe						p.L32F	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	94	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	32			Helical; Name=1; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.94C>T	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385153	0.25031	.	.	ENSG00000221888	ENST00000408896	T	0.01804	4.63	3.03	2.1	0.27182	.	.	.	.	.	T	0.04182	0.0116	M	0.76170	2.325	0.25348	N	0.98889	B	0.33477	0.413	B	0.40066	0.318	T	0.21109	-1.0255	9	0.66056	D	0.02	.	7.9572	0.30049	0.2159:0.0:0.7841:0.0	.	32	Q15619	OR1C1_HUMAN	F	32	ENSP00000386138:L32F	ENSP00000386138:L32F	L	-	1	0	OR1C1	245988238	0.000000	0.05858	0.156000	0.22583	0.363000	0.29612	-0.724000	0.04947	0.595000	0.29777	0.650000	0.86243	CTC		PASS	0.463	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			5	26	5	26	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978121	247978121	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247978121C>T	ENST00000357627.1	-	1	910	c.911G>A	c.(910-912)gGa>gAa	p.G304E		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G304E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGTGAGCTTTCCCTTTATCAA	0.343																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GGA>GAA		olfactory receptor, family 14, subfamily A,							54.0	52.0	52.0					1																	247978121		2202	4300	6502	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978121C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.911G>A	1.37:g.247978121C>T	ENSP00000350248:p.Gly304Glu						p.G304E	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	911	-			304			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.911G>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	2.845	-0.239597	0.05944	.	.	ENSG00000196772	ENST00000357627	T	0.37915	1.17	3.32	-2.73	0.05950	.	3.597440	0.01083	U	0.005031	T	0.22437	0.0541	L	0.28115	0.83	0.09310	N	1	B	0.28439	0.212	B	0.28232	0.087	T	0.06954	-1.0798	10	0.13470	T	0.59	.	4.6447	0.12566	0.0:0.3984:0.1974:0.4042	.	304	Q8NHC5	O14AG_HUMAN	E	304	ENSP00000350248:G304E	ENSP00000350248:G304E	G	-	2	0	OR14A16	246044744	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	0.000000	0.12993	-0.286000	0.09076	0.596000	0.82720	GGA		PASS	0.343	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		6	15	6	15	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978721	247978721	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:247978721G>A	ENST00000357627.1	-	1	310	c.311C>T	c.(310-312)tCt>tTt	p.S104F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S104F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGATGCTGAAGAAAGCAACAA	0.463																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)TCT>TTT		olfactory receptor, family 14, subfamily A,							101.0	97.0	99.0					1																	247978721		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978721G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.311C>T	1.37:g.247978721G>A	ENSP00000350248:p.Ser104Phe						p.S104F	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	311	-			104			Helical; Name=3; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.311C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	4.535	0.099284	0.08681	.	.	ENSG00000196772	ENST00000357627	T	0.01397	4.94	3.51	-0.268	0.12934	GPCR, rhodopsin-like superfamily (1);	0.481458	0.17244	N	0.181435	T	0.00845	0.0028	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.49103	-0.8974	10	0.02654	T	1	.	6.6019	0.22705	0.4136:0.1455:0.4408:0.0	.	104	Q8NHC5	O14AG_HUMAN	F	104	ENSP00000350248:S104F	ENSP00000350248:S104F	S	-	2	0	OR14A16	246045344	0.000000	0.05858	0.000000	0.03702	0.865000	0.49528	0.296000	0.19083	-0.464000	0.06963	-0.355000	0.07637	TCT		PASS	0.463	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		39	44	39	44	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248058951	248058951	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248058951C>T	ENST00000360358.3	+	1	63	c.63C>T	c.(61-63)ccC>ccT	p.P21P	OR2W3_ENST00000537741.1_Silent_p.P21P	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P21P(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGACCGACCCCATCTGGAGA	0.527																																						uc001idp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(61-63)CCC>CCT		olfactory receptor, family 2, subfamily W,							105.0	98.0	101.0					1																	248058951		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248058951C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.63C>T	1.37:g.248058951C>T						OR2W3_uc010pzb.1_Silent_p.P21P	p.P21P	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	332	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		21			Extracellular (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.63C>T	CCDS31099.1																																																																																				PASS	0.527	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		21	36	21	36	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112162	248112162	+	Start_Codon_SNP	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248112162G>A	ENST00000357191.3	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AATGCTCCATGGAAAATTACA	0.413																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1-3)ATG>ATA		olfactory receptor, family 2, subfamily L,							118.0	109.0	112.0					1																	248112162		2203	4300	6503	SO:0001582	initiator_codon_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112162G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.3G>A	1.37:g.248112162G>A	ENSP00000349719:p.Met1Ile					OR2L13_uc001ids.2_Intron	p.M1I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	3	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		1			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.3G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	G	8.356	0.832065	0.16820	.	.	ENSG00000196936	ENST00000357191	T	0.39229	1.09	1.48	0.474	0.16768	.	.	.	.	.	T	0.30665	0.0772	.	.	.	0.44207	D	0.997034	B	0.17667	0.023	B	0.23852	0.049	T	0.27365	-1.0076	8	0.87932	D	0	.	5.4034	0.16308	0.2245:0.0:0.7755:0.0	.	1	Q8NGY9	OR2L8_HUMAN	I	1	ENSP00000349719:M1I	ENSP00000349719:M1I	M	+	3	0	OR2L8	246178785	0.007000	0.16637	0.369000	0.25952	0.159000	0.22180	0.170000	0.16663	0.803000	0.34113	0.298000	0.19748	ATG		PASS	0.413	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		Missense_Mutation	7	35	7	35	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112240	248112240	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248112240C>T	ENST00000357191.3	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F27F(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTTTCTTCTTCATTCTCATTG	0.388																																						uc001idt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(79-81)TTC>TTT		olfactory receptor, family 2, subfamily L,							218.0	202.0	208.0					1																	248112240		2203	4300	6503	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112240C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.81C>T	1.37:g.248112240C>T						OR2L13_uc001ids.2_Intron	p.F27F	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	81	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27			Helical; Name=1; (Potential).		Q6IF03	Silent	SNP	ENST00000357191.3	37	c.81C>T	CCDS31101.1																																																																																				PASS	0.388	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			33	78	33	78	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112840	248112840	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248112840G>A	ENST00000357191.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M227I(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACCACATGAAATCTGCAG	0.448																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)ATG>ATA		olfactory receptor, family 2, subfamily L,							167.0	115.0	133.0					1																	248112840		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112840G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.681G>A	1.37:g.248112840G>A	ENSP00000349719:p.Met227Ile					OR2L13_uc001ids.2_Intron	p.M227I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	681	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227			Cytoplasmic (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.681G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	1.719	-0.497188	0.04291	.	.	ENSG00000196936	ENST00000357191	T	0.00021	9.03	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37715	U	0.001974	T	0.00073	0.0002	N	0.20530	0.585	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.17623	-1.0363	10	0.59425	D	0.04	.	4.185	0.10393	0.0:0.2546:0.4872:0.2582	.	227	Q8NGY9	OR2L8_HUMAN	I	227	ENSP00000349719:M227I	ENSP00000349719:M227I	M	+	3	0	OR2L8	246179463	0.000000	0.05858	0.018000	0.16275	0.096000	0.18686	-2.996000	0.00655	1.010000	0.39314	0.485000	0.47835	ATG		PASS	0.448	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			23	66	23	66	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202092	248202092	+	Missense_Mutation	SNP	C	C	T	rs140243044		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248202092C>T	ENST00000366479.2	+	1	619	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGCCATCAATCATTTTTTCTG	0.433																																						uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(523-525)CAT>TAT		olfactory receptor, family 2, subfamily L,							216.0	197.0	203.0					1																	248202092		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202092C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.523C>T	1.37:g.248202092C>T	ENSP00000355435:p.His175Tyr					OR2L13_uc001ids.2_Intron	p.H175Y	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	619	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		175			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.523C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608801	0.46527	.	.	ENSG00000203663	ENST00000366479	T	0.00183	8.6	1.9	0.79	0.18613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34088	U	0.004272	T	0.00496	0.0016	M	0.88512	2.96	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.32640	-0.9899	10	0.87932	D	0	.	8.7523	0.34622	0.2262:0.7738:0.0:0.0	.	175	Q8NH16	OR2L2_HUMAN	Y	175	ENSP00000355435:H175Y	ENSP00000355435:H175Y	H	+	1	0	OR2L2	246268715	0.001000	0.12720	0.928000	0.36995	0.534000	0.34807	0.018000	0.13422	0.897000	0.36392	0.194000	0.17425	CAT		PASS	0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		20	93	20	93	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224130	248224130	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248224130C>T	ENST00000359959.3	+	1	147	c.147C>T	c.(145-147)ttC>ttT	p.F49F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F49L(1)|p.F49F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCTCATCTTCTTGGACACCC	0.418																																						uc001idx.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		cervix(1)|lung(1)		0						c.(145-147)TTC>TTT		olfactory receptor, family 2, subfamily L,							308.0	296.0	300.0					1																	248224130		2203	4297	6500	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224130C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.147C>T	1.37:g.248224130C>T						OR2L13_uc001ids.2_Intron	p.F49F	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	147	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.147C>T	CCDS31104.1																																																																																				PASS	0.418	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		47	155	47	155	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224427	248224427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248224427G>A	ENST00000359959.3	+	1	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W148*(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAGGGTCTTGGATCATAGGCT	0.433																																						uc001idx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(442-444)TGG>TGA		olfactory receptor, family 2, subfamily L,							196.0	220.0	212.0					1																	248224427		2203	4300	6503	SO:0001587	stop_gained	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224427G>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.444G>A	1.37:g.248224427G>A	ENSP00000353044:p.Trp148*					OR2L13_uc001ids.2_Intron	p.W148*	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	444	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		148			Helical; Name=4; (Potential).		B9EH44	Nonsense_Mutation	SNP	ENST00000359959.3	37	c.444G>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.715615	0.30413	.	.	ENSG00000198128	ENST00000359959	.	.	.	1.91	0.715	0.18186	.	0.000000	0.30293	U	0.009952	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9652	0.41721	0.0:0.2088:0.7912:0.0	.	.	.	.	X	148	.	ENSP00000353044:W148X	W	+	3	0	OR2L3	246291050	0.000000	0.05858	0.489000	0.27452	0.042000	0.13812	-0.037000	0.12164	1.031000	0.39867	0.462000	0.41574	TGG		PASS	0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		44	106	44	106	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263533	248263533	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248263533C>T	ENST00000358120.2	+	2	1001	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	OR2L13_ENST00000366478.2_Missense_Mutation_p.P286S			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P286S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CATGCTCAATCCCATTATCTA	0.488																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(856-858)CCC>TCC		olfactory receptor, family 2, subfamily L,							71.0	72.0	72.0					1																	248263533		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263533C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.856C>T	1.37:g.248263533C>T	ENSP00000350836:p.Pro286Ser						p.P286S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1193	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		286			Helical; Name=7; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.856C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470165	0.84533	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.63417	-0.04;-0.04	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000472	D	0.87277	0.6137	H	0.98721	4.31	0.44424	D	0.99734	D	0.89917	1.0	D	0.85130	0.997	D	0.92525	0.6028	10	0.72032	D	0.01	.	15.4907	0.75602	0.0:1.0:0.0:0.0	.	286	Q8N349	OR2LD_HUMAN	S	286	ENSP00000355434:P286S;ENSP00000350836:P286S	ENSP00000350836:P286S	P	+	1	0	OR2L13	246330156	0.998000	0.40836	0.998000	0.56505	0.983000	0.72400	5.871000	0.69628	2.138000	0.66242	0.650000	0.86243	CCC		PASS	0.488	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		24	38	24	38	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343802	248343802	+	Missense_Mutation	SNP	G	G	A	rs200148029		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248343802G>A	ENST00000359682.2	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGGGTCTCGGGAAATAGCC	0.418													g|||	1	0.000199681	0.0	0.0	5008	,	,		20982	0.001		0.0	False		,,,				2504	0.0					uc010pzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(514-516)CGG>CAG		olfactory receptor, family 2, subfamily M,							227.0	223.0	225.0					1																	248343802		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343802G>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.515G>A	1.37:g.248343802G>A	ENSP00000352710:p.Arg172Gln						p.R172Q	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	515	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		172			Extracellular (Potential).		A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.515G>A	CCDS31106.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	9.806	1.181786	0.21787	.	.	ENSG00000198601	ENST00000359682	T	0.00044	8.83	1.74	-1.87	0.07737	GPCR, rhodopsin-like superfamily (1);	0.318671	0.17289	U	0.179736	T	0.00109	0.0003	L	0.53729	1.69	0.09310	N	1	P	0.41947	0.766	B	0.35770	0.21	T	0.39057	-0.9632	10	0.52906	T	0.07	.	3.6209	0.08096	0.6109:0.0:0.1951:0.194	.	172	Q96R28	OR2M2_HUMAN	Q	172	ENSP00000352710:R172Q	ENSP00000352710:R172Q	R	+	2	0	OR2M2	246410425	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.351000	0.20096	-0.341000	0.08376	0.298000	0.19748	CGG		PASS	0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		59	94	59	94	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366433	248366433	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248366433C>T	ENST00000456743.1	+	1	102	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P22S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAATCACAGCCCCACCCACAC	0.498																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(64-66)CCC>TCC		olfactory receptor, family 2, subfamily M,							205.0	210.0	208.0					1																	248366433		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366433C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.64C>T	1.37:g.248366433C>T	ENSP00000389625:p.Pro22Ser						p.P22S	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	64	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		22			Extracellular (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.64C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896989	0.17686	.	.	ENSG00000228198	ENST00000456743	T	0.00311	8.15	2.61	0.605	0.17553	.	0.750751	0.10532	U	0.663674	T	0.00109	0.0003	N	0.13235	0.315	0.09310	N	1	B	0.23490	0.086	B	0.20767	0.031	T	0.09357	-1.0678	10	0.22109	T	0.4	.	1.1406	0.01765	0.173:0.4305:0.1702:0.2263	.	22	Q8NG83	OR2M3_HUMAN	S	22	ENSP00000389625:P22S	ENSP00000389625:P22S	P	+	1	0	OR2M3	246433056	0.000000	0.05858	0.001000	0.08648	0.598000	0.36846	0.121000	0.15667	0.027000	0.15297	0.398000	0.26397	CCC		PASS	0.498	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		61	86	61	86	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436733	248436733	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248436733G>A	ENST00000318021.2	-	1	405	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L128L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGATATCGGAGTGGGTGGC	0.597																																						uc010pzi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(382-384)CTC>CTT		olfactory receptor, family 2, subfamily T,							59.0	59.0	59.0					1																	248436733		2197	4289	6486	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436733G>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.384C>T	1.37:g.248436733G>A							p.L128L	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	384	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		128			Cytoplasmic (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.384C>T	CCDS31109.1																																																																																				PASS	0.597	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		9	75	9	75	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436828	248436828	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248436828C>T	ENST00000318021.2	-	1	310	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V97M(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTGCACACCACAGCCA	0.572																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(289-291)GTG>ATG		olfactory receptor, family 2, subfamily T,							74.0	67.0	69.0					1																	248436828		2203	4295	6498	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436828C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.289G>A	1.37:g.248436828C>T	ENSP00000324687:p.Val97Met						p.V97M	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	289	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		97			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.289G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.041	-1.284856	0.01398	.	.	ENSG00000177212	ENST00000318021	T	0.03094	4.05	2.7	-4.91	0.03085	GPCR, rhodopsin-like superfamily (1);	0.997866	0.08104	U	0.997295	T	0.02119	0.0066	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47459	-0.9116	10	0.37606	T	0.19	.	1.2116	0.01906	0.3025:0.3486:0.1055:0.2435	.	97	Q8NG76	O2T33_HUMAN	M	97	ENSP00000324687:V97M	ENSP00000324687:V97M	V	-	1	0	OR2T33	246503451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.311000	0.01128	-0.620000	0.05641	-0.599000	0.04106	GTG		PASS	0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		8	111	8	111	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248437113	248437113	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248437113C>T	ENST00000318021.2	-	1	25	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2K(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTCTCATCTCCATAATTTCC	0.428																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(4-6)GAG>AAG		olfactory receptor, family 2, subfamily T,							46.0	47.0	47.0					1																	248437113		2131	4237	6368	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437113C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.4G>A	1.37:g.248437113C>T	ENSP00000324687:p.Glu2Lys						p.E2K	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	4	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.4G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	8.986	0.976433	0.18736	.	.	ENSG00000177212	ENST00000318021	T	0.38560	1.13	2.76	2.76	0.32466	.	0.714851	0.11411	U	0.566760	T	0.32645	0.0836	L	0.35542	1.07	0.21105	N	0.999785	B	0.20261	0.043	B	0.17979	0.02	T	0.26985	-1.0087	10	0.59425	D	0.04	.	10.1879	0.43009	0.0:0.7941:0.2059:0.0	.	2	Q8NG76	O2T33_HUMAN	K	2	ENSP00000324687:E2K	ENSP00000324687:E2K	E	-	1	0	OR2T33	246503736	0.012000	0.17670	0.833000	0.33012	0.232000	0.25224	1.022000	0.30052	1.476000	0.48215	0.494000	0.49563	GAG		PASS	0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		19	25	19	25	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458687	248458687	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248458687G>A	ENST00000317996.1	-	1	193	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S65F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GTCCATGAGGGAAAGTTGGCT	0.552																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(193-195)TCC>TTC		olfactory receptor, family 2, subfamily T,							45.0	39.0	41.0					1																	248458687		2197	4275	6472	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458687G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.194C>T	1.37:g.248458687G>A	ENSP00000324583:p.Ser65Phe						p.S65F	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	194	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		65			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.194C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	13.11	2.138971	0.37728	.	.	ENSG00000177201	ENST00000317996	T	0.12361	2.69	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35013	U	0.003505	T	0.44829	0.1312	H	0.95402	3.665	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.41270	-0.9518	10	0.87932	D	0	.	10.5912	0.45310	0.0:0.0:1.0:0.0	.	65	Q8NG77	O2T12_HUMAN	F	65	ENSP00000324583:S65F	ENSP00000324583:S65F	S	-	2	0	OR2T12	246525310	0.051000	0.20477	0.006000	0.13384	0.372000	0.29890	2.412000	0.44609	0.645000	0.30675	0.175000	0.17021	TCC		PASS	0.552	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		37	23	37	23	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248486965	248486965	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248486965C>T	ENST00000317965.2	-	1	934	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403																																						uc010pzk.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(904-906)ATG>ATA		olfactory receptor, family 2, subfamily M,							66.0	67.0	67.0					1																	248486965		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486965C>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.906G>A	1.37:g.248486965C>T	ENSP00000324557:p.Met302Ile						p.M302I	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	906	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		302			Cytoplasmic (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.906G>A	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735946	0.15574	.	.	ENSG00000177186	ENST00000317965	T	0.35973	1.28	1.88	-0.801	0.10893	.	.	.	.	.	T	0.17492	0.0420	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22941	-1.0202	9	0.52906	T	0.07	.	2.7367	0.05242	0.2407:0.4691:0.0:0.2902	.	302	Q8NG81	OR2M7_HUMAN	I	302	ENSP00000324557:M302I	ENSP00000324557:M302I	M	-	3	0	OR2M7	246553588	0.001000	0.12720	0.006000	0.13384	0.008000	0.06430	-0.152000	0.10159	0.732000	0.32470	0.184000	0.17185	ATG		PASS	0.403	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		23	37	23	37	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512233	248512233	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248512233C>T	ENST00000317861.1	+	1	157	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L53F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGACAGCAGCCTTCACATGCC	0.438																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(157-159)CTT>TTT		olfactory receptor, family 14, subfamily C,							258.0	222.0	234.0					1																	248512233		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512233C>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.157C>T	1.37:g.248512233C>T	ENSP00000324534:p.Leu53Phe						p.L53F	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	157	+			53			Helical; Name=2; (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.157C>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022465	0.75275	.	.	ENSG00000177174	ENST00000317861	T	0.14391	2.51	4.05	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38058	U	0.001828	T	0.28001	0.0690	M	0.92169	3.28	0.29018	N	0.886462	P	0.51653	0.947	P	0.44518	0.452	T	0.44065	-0.9352	10	0.72032	D	0.01	.	11.4725	0.50278	0.0:0.9095:0.0:0.0905	.	53	Q8NHC7	O14CZ_HUMAN	F	53	ENSP00000324534:L53F	ENSP00000324534:L53F	L	+	1	0	OR14C36	246578856	0.677000	0.27577	0.007000	0.13788	0.672000	0.39443	1.670000	0.37502	0.950000	0.37743	0.395000	0.25975	CTT		PASS	0.438	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		28	79	28	79	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525368	248525368	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248525368C>T	ENST00000366475.1	+	1	486	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCATCCTCTCCGTTACCCTG	0.527																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(484-486)CTC>CTT		olfactory receptor, family 2, subfamily T,							259.0	227.0	238.0					1																	248525368		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525368C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.486C>T	1.37:g.248525368C>T							p.L162L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	486	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162			Cytoplasmic (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.486C>T	CCDS31113.1																																																																																				PASS	0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		45	110	45	110	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616386	248616386	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248616386G>A	ENST00000342927.3	+	1	310	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L96L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCCTTCCTGGGCTGTGCAG	0.532																																						uc001iek.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(286-288)CTG>CTA		olfactory receptor, family 2, subfamily T,							251.0	284.0	273.0					1																	248616386		2203	4300	6503	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616386G>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.288G>A	1.37:g.248616386G>A							p.L96L	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	288	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96			Extracellular (Potential).		B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.288G>A	CCDS31116.1																																																																																				PASS	0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		21	176	21	176	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685273	248685273	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248685273C>T	ENST00000343414.4	+	1	358	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S109L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(325-327)TCG>TTG		olfactory receptor, family 2, subfamily G,							103.0	101.0	101.0					1																	248685273		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685273C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.326C>T	1.37:g.248685273C>T	ENSP00000341291:p.Ser109Leu						p.S109L	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	326	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	109			Helical; Name=3; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.326C>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.94	1.492442	0.26774	.	.	ENSG00000188558	ENST00000343414	T	0.03094	4.05	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	U	0.000624	T	0.11793	0.0287	M	0.67625	2.065	0.09310	N	1	D	0.89917	1.0	P	0.60949	0.881	T	0.01675	-1.1298	10	0.72032	D	0.01	.	9.8654	0.41140	0.0:0.6416:0.3584:0.0	.	109	Q5TZ20	OR2G6_HUMAN	L	109	ENSP00000341291:S109L	ENSP00000341291:S109L	S	+	2	0	OR2G6	246751896	0.000000	0.05858	0.013000	0.15412	0.011000	0.07611	-4.456000	0.00231	1.869000	0.54173	0.400000	0.26472	TCG		PASS	0.547	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		15	49	15	49	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248789647	248789647	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248789647G>A	ENST00000330803.2	-	1	844	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S261S(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTGTGGAAGGACTGGGGCA	0.512																																						uc001ier.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(781-783)TCC>TCT		olfactory receptor, family 2, subfamily T,							78.0	71.0	74.0					1																	248789647		2047	4233	6280	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789647G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.783C>T	1.37:g.248789647G>A							p.S261S	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	783	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261			Extracellular (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.783C>T	CCDS31122.1																																																																																				PASS	0.512	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		17	7	17	7	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248789953	248789953	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:248789953G>A	ENST00000330803.2	-	1	538	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I159I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTCATGGTGATGGGAGTGA	0.522																																						uc001ier.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(475-477)ATC>ATT		olfactory receptor, family 2, subfamily T,							53.0	60.0	58.0					1																	248789953		2050	4233	6283	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789953G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.477C>T	1.37:g.248789953G>A							p.I159I	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	477	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		159			Extracellular (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.477C>T	CCDS31122.1																																																																																				PASS	0.522	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		23	4	23	4	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1648443	1648443	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:1648443G>A	ENST00000252804.4	-	18	3740	c.3690C>T	c.(3688-3690)ccC>ccT	p.P1230P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1230					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P1230P(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACATCAGGGTGGGGCCCAGCC	0.572																																						uc002qxa.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3688-3690)CCC>CCT		peroxidasin precursor							40.0	47.0	45.0					2																	1648443		1943	4138	6081	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1648443G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3690C>T	2.37:g.1648443G>A							p.P1230P	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	18	3754	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1230					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3690C>T	CCDS46221.1																																																																																				PASS	0.572	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		16	26	16	26	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652238	1652238	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:1652238G>A	ENST00000252804.4	-	17	3364	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1105					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P1105L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AATCCGGAAGGGAGAGAAGAA	0.582																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3313-3315)CCC>CTC		peroxidasin precursor							35.0	43.0	40.0					2																	1652238		2073	4187	6260	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652238G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3314C>T	2.37:g.1652238G>A	ENSP00000252804:p.Pro1105Leu						p.P1105L	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3378	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1105					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3314C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310215	0.81358	.	.	ENSG00000130508	ENST00000252804	T	0.74842	-0.88	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94247	0.7490	10	0.72032	D	0.01	-43.1722	19.4069	0.94651	0.0:0.0:1.0:0.0	.	1105	Q92626	PXDN_HUMAN	L	1105	ENSP00000252804:P1105L	ENSP00000252804:P1105L	P	-	2	0	PXDN	1631245	1.000000	0.71417	0.834000	0.33040	0.823000	0.46562	9.759000	0.98931	2.588000	0.87417	0.650000	0.86243	CCC		PASS	0.582	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		13	14	13	14	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1677562	1677562	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:1677562C>T	ENST00000252804.4	-	9	921	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	291	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D291N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGCGGGAATCTGTCTTCATG	0.507																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(871-873)GAT>AAT		peroxidasin precursor							117.0	119.0	118.0					2																	1677562		2055	4203	6258	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1677562C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.871G>A	2.37:g.1677562C>T	ENSP00000252804:p.Asp291Asn					PXDN_uc002qxb.1_Missense_Mutation_p.D291N|PXDN_uc002qxc.1_Missense_Mutation_p.D108N	p.D291N	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	9	935	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	291			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.871G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504340	0.64410	.	.	ENSG00000130508	ENST00000252804	T	0.39997	1.05	5.25	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109003	0.64402	D	0.000010	T	0.33030	0.0849	L	0.28504	0.86	0.47511	D	0.99944	P;B	0.35894	0.526;0.062	B;B	0.38020	0.263;0.159	T	0.21999	-1.0229	10	0.59425	D	0.04	-35.4398	11.8883	0.52615	0.0:0.9184:0.0:0.0816	.	291;291	Q92626-2;Q92626	.;PXDN_HUMAN	N	291	ENSP00000252804:D291N	ENSP00000252804:D291N	D	-	1	0	PXDN	1656569	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	5.954000	0.70298	2.583000	0.87209	0.561000	0.74099	GAT		PASS	0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		26	68	26	68	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1891377	1891377	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:1891377T>C	ENST00000399161.2	-	17	3272	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	MYT1L_ENST00000428368.2_Missense_Mutation_p.E840G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	842					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E842G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCCAAGTCTTCTGGCTGTGG	0.562																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2524-2526)GAA>GGA		myelin transcription factor 1-like							149.0	148.0	148.0					2																	1891377		1993	4155	6148	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1891377T>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2525A>G	2.37:g.1891377T>C	ENSP00000382114:p.Glu842Gly					MYT1L_uc002qxd.2_Missense_Mutation_p.E840G|MYT1L_uc010ewl.1_RNA	p.E842G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	17	3352	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	842					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2525A>G		.	.	.	.	.	.	.	.	.	.	T	23.3	4.401765	0.83120	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46819	0.86;0.86	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.046390	0.85682	D	0.000000	T	0.49423	0.1556	L	0.48642	1.525	0.80722	D	1	P;P	0.47910	0.729;0.902	P;B	0.46825	0.528;0.415	T	0.48127	-0.9062	10	0.42905	T	0.14	-31.9235	15.698	0.77515	0.0:0.0:0.0:1.0	.	842;840	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	842;788;840	ENSP00000382114:E842G;ENSP00000396103:E840G	ENSP00000295067:E788G	E	-	2	0	MYT1L	1870384	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.434000	0.80377	2.109000	0.64355	0.528000	0.53228	GAA		PASS	0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		48	105	48	105	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1906880	1906880	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:1906880C>T	ENST00000399161.2	-	14	2751	c.2004G>A	c.(2002-2004)agG>agA	p.R668R	MYT1L_ENST00000428368.2_Silent_p.R666R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	668					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R668R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGATATATCCCTGGTTTGCA	0.438																																						uc002qxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(2002-2004)AGG>AGA		myelin transcription factor 1-like							156.0	150.0	152.0					2																	1906880		1954	4146	6100	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906880C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2004G>A	2.37:g.1906880C>T						MYT1L_uc002qxd.2_Silent_p.R666R|MYT1L_uc010ewl.1_Intron	p.R668R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	14	2831	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	668					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2004G>A																																																																																					PASS	0.438	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		25	40	25	40	---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3744989	3744989	+	Nonsense_Mutation	SNP	C	C	T	rs201366958	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:3744989C>T	ENST00000252505.3	+	10	955	c.793C>T	c.(793-795)Cga>Tga	p.R265*	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	284					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.R265*(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCAGTTTTCCGATTGGCACA	0.373										HNSCC(21;0.051)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		19046	0.0		0.0	False		,,,				2504	0.0					uc010ewt.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(793-795)CGA>TGA		allantoicase isoform a		C	stop/ARG	3,3715		0,3,1856	156.0	153.0	154.0		793	3.5	1.0	2		154	0,8194		0,0,4097	yes	stop-gained	ALLC	NM_018436.3		0,3,5953	TT,TC,CC		0.0,0.0807,0.0252		265/392	3744989	3,11909	1859	4097	5956	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3744989C>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.793C>T	2.37:g.3744989C>T	ENSP00000252505:p.Arg265*	HNSCC(21;0.051)				ALLC_uc002qyf.2_Nonsense_Mutation_p.R36*	p.R265*	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	10	954	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	284					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.793C>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	C	36	5.970377	0.97156	8.07E-4	0.0	ENSG00000151360	ENST00000252505	.	.	.	5.47	3.47	0.39725	.	0.124148	0.49916	D	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8632	7.3795	0.26847	0.2399:0.668:0.0:0.0921	.	.	.	.	X	265	.	ENSP00000252505:R265X	R	+	1	2	ALLC	3722864	1.000000	0.71417	0.993000	0.49108	0.631000	0.37964	1.582000	0.36568	1.302000	0.44855	0.563000	0.77884	CGA		PASS	0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			26	74	26	74	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7160794	7160794	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:7160794C>T	ENST00000320892.6	+	6	934	c.492C>T	c.(490-492)ttC>ttT	p.F164F	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	164					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F164F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CGATCACCTTCCTCCCCGGGG	0.592																																						uc002qys.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(490-492)TTC>TTT		ring finger protein 144							70.0	73.0	72.0					2																	7160794		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7160794C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.492C>T	2.37:g.7160794C>T						RNF144A_uc002qyt.2_5'UTR	p.F164F	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	6	934	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	164					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.492C>T	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886742	0.17540	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.42	4.53	0.55603	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54057	-0.8350	4	.	.	.	.	8.2338	0.31614	0.0:0.783:0.0:0.217	.	.	.	.	F	160	.	.	S	+	2	0	RNF144A	7078245	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.851000	0.39338	2.706000	0.92434	0.561000	0.74099	TCC		PASS	0.592	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		11	25	11	25	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8890323	8890323	+	Silent	SNP	G	G	A	rs375561088		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:8890323G>A	ENST00000256707.3	-	24	3514	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	KIDINS220_ENST00000473731.1_Silent_p.F1111F|KIDINS220_ENST00000418530.1_Silent_p.F1069F|KIDINS220_ENST00000427284.1_Silent_p.F1111F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1111					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.F1111F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCACCTGCGAAGGGCCCAT	0.612																																						uc002qzc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3331-3333)TTC>TTT		kinase D-interacting substrate of 220 kDa		G		0,4054		0,0,2027	73.0	74.0	74.0		3333	-5.7	0.0	2		74	1,8385		0,1,4192	no	coding-synonymous	KIDINS220	NM_020738.2		0,1,6219	AA,AG,GG		0.0119,0.0,0.0080		1111/1772	8890323	1,12439	2027	4193	6220	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8890323G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3333C>T	2.37:g.8890323G>A						KIDINS220_uc010yiv.1_Silent_p.F877F|KIDINS220_uc002qzd.2_Silent_p.F1069F|KIDINS220_uc010yiw.1_Silent_p.F1112F|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.2_Silent_p.F116F	p.F1111F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			24	3515	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1111			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.3333C>T	CCDS42650.1																																																																																				PASS	0.612	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		26	49	26	49	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15415806	15415806	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:15415806G>A	ENST00000281513.5	-	44	5551	c.5526C>T	c.(5524-5526)tcC>tcT	p.S1842S	NBAS_ENST00000441750.1_Silent_p.S1722S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1842					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S1842S(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGCTTGGGGAAAGCATCT	0.453																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(5524-5526)TCC>TCT		neuroblastoma-amplified protein							106.0	108.0	107.0					2																	15415806		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15415806G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5526C>T	2.37:g.15415806G>A						NBAS_uc010exl.1_Silent_p.S914S|NBAS_uc002rcd.1_RNA	p.S1842S	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5552	-			1842					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.5526C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	8.055	0.766953	0.15983	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.57	-3.95	0.04118	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37663	-0.9696	4	.	.	.	.	0.9667	0.01407	0.1893:0.2403:0.2818:0.2886	.	.	.	.	L	890	.	.	P	-	2	0	NBAS	15333257	0.248000	0.23930	0.598000	0.28837	0.986000	0.74619	-0.485000	0.06520	-0.375000	0.07955	-0.189000	0.12847	CCC		PASS	0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		27	31	27	31	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15679377	15679377	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:15679377G>T	ENST00000281513.5	-	7	508	c.483C>A	c.(481-483)ctC>ctA	p.L161L	NBAS_ENST00000441750.1_Silent_p.L161L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	161					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L161L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACTTCCCATGAGATCAAACA	0.428																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(481-483)CTC>CTA		neuroblastoma-amplified protein							118.0	107.0	111.0					2																	15679377		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15679377G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.483C>A	2.37:g.15679377G>T						NBAS_uc002rcd.1_RNA	p.L161L	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			7	509	-			161			WD 1.		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.483C>A	CCDS1685.1																																																																																				PASS	0.428	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		16	52	16	52	---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16082519	16082519	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:16082519C>T	ENST00000281043.3	+	2	630	c.333C>T	c.(331-333)atC>atT	p.I111I	MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	111					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I111I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ACCCGGTCATCCTCCAGGACT	0.706			A		neuroblastoma																																	uc002rci.2				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(331-333)ATC>ATT		v-myc myelocytomatosis viral related oncogene,																																				SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082519C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.333C>T	2.37:g.16082519C>T						MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.I103I	p.I111I	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	633	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		111					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.333C>T	CCDS1687.1																																																																																				PASS	0.706	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		6	4	6	4	---	---	---	---
RAD51AP2	729475	broad.mit.edu	37	2	17698866	17698866	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:17698866C>T	ENST00000399080.2	-	1	840	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	273								p.V273I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTAAATAGACAGAGGACATT	0.378																																						uc002rcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(817-819)GTC>ATC		RAD51 associated protein 2							134.0	121.0	125.0					2																	17698866		1823	4083	5906	SO:0001583	missense	729475							g.chr2:17698866C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.817G>A	2.37:g.17698866C>T	ENSP00000382030:p.Val273Ile					RAD51AP2_uc010exn.1_Missense_Mutation_p.V264I	p.V273I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	841	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		273						Missense_Mutation	SNP	ENST00000399080.2	37	c.817G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385451	0.61956	.	.	ENSG00000214842	ENST00000399080	T	0.29397	1.57	4.58	2.6	0.31112	.	.	.	.	.	T	0.24547	0.0595	L	0.29908	0.895	0.20873	N	0.999832	B	0.31459	0.324	B	0.36464	0.225	T	0.25710	-1.0124	9	0.87932	D	0	-2.4535	7.2977	0.26403	0.0:0.6887:0.1433:0.168	.	273	Q09MP3	R51A2_HUMAN	I	273	ENSP00000382030:V273I	ENSP00000382030:V273I	V	-	1	0	RAD51AP2	17562347	0.927000	0.31430	1.000000	0.80357	0.998000	0.95712	0.220000	0.17660	1.226000	0.43582	0.655000	0.94253	GTC		PASS	0.378	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		14	40	14	40	---	---	---	---
SDC1	6382	broad.mit.edu	37	2	20403882	20403883	+	Silent	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:20403882_20403883GG>AA	ENST00000254351.4	-	3	562_563	c.318_319CC>TT	c.(316-321)gtCCtg>gtTTtg	p.106_107VL>VL	SDC1_ENST00000403076.1_Silent_p.106_107VL>VL|SDC1_ENST00000381150.1_Silent_p.106_107VL>VL|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	106					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.V106V(1)|p.(=)(1)|p.L107L(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)		ACTTCTGGCAGGACTACAGCCT	0.678																																						uc002rdo.1																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)	ovary(4)|skin(1)	5						c.(319-321)CTG>TTG|c.(316-318)GTC>GTT		syndecan 1 precursor																																				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.chr2:20403882G>A|g.chr2:20403883G>A	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.318_319delinsAA	2.37:g.20403882_20403883delinsAA						SDC1_uc002rdp.1_Silent_p.L107L|SDC1_uc010exv.2_Silent_p.L107L|SDC1_uc010exw.1_RNA|SDC1_uc002rdp.1_Silent_p.V106V|SDC1_uc010exv.2_Silent_p.V106V|SDC1_uc010exw.1_RNA	p.L107L|p.V106V	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	3	618|617	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		107|106			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.319C>T|c.318C>T	CCDS1697.1																																																																																				PASS	0.678	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946		20	26|27	20	26	---	---	---	---
APOB	338	broad.mit.edu	37	2	21225418	21225418	+	Silent	SNP	G	G	A	rs546024019		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:21225418G>A	ENST00000233242.1	-	29	13003	c.12876C>T	c.(12874-12876)acC>acT	p.T4292T	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4292					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.T4292T(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)					GCACCTCTGTGGTCTTGAGAG	0.328																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(12874-12876)ACC>ACT		apolipoprotein B precursor	Atorvastatin(DB01076)						131.0	142.0	139.0					2																	21225418		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:21225418G>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.12876C>T	2.37:g.21225418G>A							p.T4292T	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13004	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4292					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.12876C>T	CCDS1703.1																																																																																				PASS	0.328	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			26	78	26	78	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232203	21232203	+	Nonsense_Mutation	SNP	G	G	A	rs146538280		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:21232203G>A	ENST00000233242.1	-	26	7664	c.7537C>T	c.(7537-7539)Cga>Tga	p.R2513*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2513					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.R2513*(2)		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)					AGGGTCTCTCGGAATTTGGCC	0.438																																						uc002red.2																			2	Substitution - Nonsense(2)	p.R2513*(1)	lung(1)|skin(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	GRCh37	CM910035	APOB	M	rs146538280	c.(7537-7539)CGA>TGA		apolipoprotein B precursor	Atorvastatin(DB01076)	G	stop/ARG	0,4406		0,0,2203	129.0	109.0	116.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	7537	4.2	1.0	2	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	APOB	NM_000384.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2513/4564	21232203	1,13005	2203	4300	6503	SO:0001587	stop_gained	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.chr2:21232203G>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.7537C>T	2.37:g.21232203G>A	ENSP00000233242:p.Arg2513*						p.R2513*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7665	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2513					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.7537C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	48	14.687079	0.99806	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.08	4.18	0.49190	.	0.718713	0.12483	N	0.464943	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	5.461	0.16617	0.0788:0.1337:0.6307:0.1568	.	.	.	.	X	2513	.	ENSP00000233242:R2513X	R	-	1	2	APOB	21085708	0.957000	0.32711	0.998000	0.56505	0.910000	0.53928	2.494000	0.45329	1.091000	0.41335	0.462000	0.41574	CGA		PASS	0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	32	23	32	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232524	21232524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:21232524C>A	ENST00000233242.1	-	26	7343	c.7216G>T	c.(7216-7218)Gaa>Taa	p.E2406*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2406					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.E2406*(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)					AAAGATAATTCATTAAGCTTC	0.294																																						uc002red.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7216-7218)GAA>TAA		apolipoprotein B precursor	Atorvastatin(DB01076)						43.0	42.0	43.0					2																	21232524		2203	4300	6503	SO:0001587	stop_gained	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.chr2:21232524C>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.7216G>T	2.37:g.21232524C>A	ENSP00000233242:p.Glu2406*						p.E2406*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7344	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2406					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.7216G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	44	10.770193	0.99464	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.4	3.34	0.38264	.	0.613708	0.15222	N	0.273911	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	5.9665	0.19328	0.0:0.6476:0.0:0.3524	.	.	.	.	X	2406	.	ENSP00000233242:E2406X	E	-	1	0	APOB	21086029	0.090000	0.21635	0.767000	0.31495	0.027000	0.11550	0.528000	0.23002	1.269000	0.44280	0.491000	0.48974	GAA		PASS	0.294	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	25	8	25	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24011440	24011440	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:24011440A>T	ENST00000238789.5	-	20	3061	c.2718T>A	c.(2716-2718)ttT>ttA	p.F906L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	906						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.F906L(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTTGAAAAAATTTTCTTC	0.363																																						uc002rek.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2716-2718)TTT>TTA		ATPase family, AAA domain containing 2B							125.0	114.0	118.0					2																	24011440		1823	4069	5892	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24011440A>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2718T>A	2.37:g.24011440A>T	ENSP00000238789:p.Phe906Leu					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.F151L|ATAD2B_uc002rej.3_Missense_Mutation_p.F74L	p.F906L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			20	3012	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		906					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2718T>A	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.647879|4.647879	0.87958|0.87958	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|D	0.94184|0.94758	-3.37|-3.51	5.7|5.7	4.54|4.54	0.55810|0.55810	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000005|0.000005	D|D	0.96169|0.96169	0.8751|0.8751	M|M	0.88377|0.88377	2.95|2.95	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.59357|.	0.974;0.985|.	P;D|.	0.66351|.	0.841;0.943|.	D|D	0.94492|0.94492	0.7702|0.7702	10|8	0.66056|0.18710	D|T	0.02|0.47	.|.	11.7485|11.7485	0.51835|0.51835	0.9311:0.0:0.0689:0.0|0.9311:0.0:0.0689:0.0	.|.	906;906|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	L|Y	906;74|187	ENSP00000238789:F906L|ENSP00000370412:F187Y	ENSP00000238789:F906L|ENSP00000370412:F187Y	F|F	-|-	3|2	2|0	ATAD2B|ATAD2B	23864944|23864944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.173000|3.173000	0.50839|0.50839	1.097000|1.097000	0.41459|0.41459	0.533000|0.533000	0.62120|0.62120	TTT|TTT		PASS	0.363	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		16	30	16	30	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24432886	24432886	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:24432886G>A	ENST00000355123.4	-	35	4717	c.4274C>T	c.(4273-4275)tCt>tTt	p.S1425F	ITSN2_ENST00000361999.3_Missense_Mutation_p.S1398F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1425					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.S1424F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGTGAGAGAGTTGAAAAT	0.483																																						uc002rfe.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4273-4275)TCT>TTT		intersectin 2 isoform 1							102.0	103.0	103.0					2																	24432886		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432886G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4274C>T	2.37:g.24432886G>A	ENSP00000347244:p.Ser1425Phe					ITSN2_uc002rff.2_Missense_Mutation_p.S1398F	p.S1425F	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			35	4532	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1425					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4274C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343558	0.61073	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.49720	0.77;0.77;0.77	4.26	4.26	0.50523	Pleckstrin homology-type (1);	0.000000	0.34879	U	0.003602	T	0.71484	0.3345	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.78206	-0.2294	10	0.87932	D	0	.	17.0717	0.86576	0.0:0.0:1.0:0.0	.	1398;1425	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	F	1398;1425;1398	ENSP00000354561:S1398F;ENSP00000347244:S1425F;ENSP00000370250:S1398F	ENSP00000347244:S1425F	S	-	2	0	ITSN2	24286390	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.102000	0.63906	0.455000	0.32223	TCT		PASS	0.483	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		47	57	47	57	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25387536	25387536	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:25387536C>T	ENST00000405623.1	-	2	561	c.106G>A	c.(106-108)Gac>Aac	p.D36N	POMC_ENST00000380794.1_Missense_Mutation_p.D36N|POMC_ENST00000395826.2_Missense_Mutation_p.D36N|POMC_ENST00000264708.3_Missense_Mutation_p.D36N			P01189	COLI_HUMAN	proopiomelanocortin	36					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.D36N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GTGGTGAGGTCCTGACACTGG	0.592																																					Colon(110;1515 1566 8452 10082 43216)	uc002rfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)GAC>AAC		proopiomelanocortin preproprotein	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						82.0	79.0	80.0					2																	25387536		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387536C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.106G>A	2.37:g.25387536C>T	ENSP00000384092:p.Asp36Asn					POMC_uc002rfz.1_Missense_Mutation_p.D36N|POMC_uc002rga.1_Missense_Mutation_p.D36N	p.D36N	NM_001035256	NP_001030333	P01189	COLI_HUMAN			3	369	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		36					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.106G>A	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204542	0.95033	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.34	5.34	0.76211	Pro-opiomelanocortin N-terminal (1);	0.154870	0.56097	D	0.000032	D	0.86255	0.5889	M	0.63428	1.95	0.58432	D	0.999999	D	0.58620	0.983	D	0.66196	0.942	D	0.87262	0.2280	10	0.87932	D	0	-10.6078	17.9711	0.89113	0.0:1.0:0.0:0.0	.	36	P01189	COLI_HUMAN	N	36	ENSP00000370171:D36N;ENSP00000384092:D36N;ENSP00000264708:D36N;ENSP00000379170:D36N;ENSP00000387993:D36N	ENSP00000264708:D36N	D	-	1	0	POMC	25241040	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.679000	0.54634	2.657000	0.90304	0.462000	0.41574	GAC		PASS	0.592	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		23	55	23	55	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26706345	26706345	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:26706345G>A	ENST00000272371.2	-	13	1503	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	OTOF_ENST00000403946.3_Silent_p.F459F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	459	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.F459F(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAGCAAAGAAGACTTGCA	0.577																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1375-1377)TTC>TTT		otoferlin isoform a							82.0	72.0	76.0					2																	26706345		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706345G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1377C>T	2.37:g.26706345G>A							p.F459F	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1504	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		459			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1377C>T	CCDS1725.1																																																																																				PASS	0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			21	39	21	39	---	---	---	---
CIB4	130106	broad.mit.edu	37	2	26864147	26864147	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:26864147C>T	ENST00000288861.4	-	1	89	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	12							calcium ion binding (GO:0005509)	p.E12E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCAGGTCCTCCCAGTGCA	0.552																																						uc002rhm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(34-36)GAG>GAA		calcium and integrin binding family member 4							288.0	248.0	262.0					2																	26864147		2203	4300	6503	SO:0001819	synonymous_variant	130106						calcium ion binding	g.chr2:26864147C>T		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.36G>A	2.37:g.26864147C>T							p.E12E	NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN			1	65	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		12					B2RU18	Silent	SNP	ENST00000288861.4	37	c.36G>A	CCDS33160.1																																																																																				PASS	0.552	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			40	80	40	80	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27156166	27156166	+	Missense_Mutation	SNP	C	C	T	rs372829541		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27156166C>T	ENST00000288699.6	+	7	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	252					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S252L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGTATCTCGGCTGGTGAC	0.517																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(754-756)TCG>TTG		dihydropyrimidinase-like 5		C	LEU/SER	0,4406		0,0,2203	246.0	178.0	201.0		755	6.0	1.0	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPYSL5	NM_020134.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	252/565	27156166	1,13005	2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27156166C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.755C>T	2.37:g.27156166C>T	ENSP00000288699:p.Ser252Leu					DPYSL5_uc002rhv.3_Missense_Mutation_p.S252L	p.S252L	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			7	913	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		252					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.755C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303258	0.81136	0.0	1.16E-4	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90385	-2.66;-2.66	6.04	6.04	0.98038	Amidohydrolase 1 (1);	0.110781	0.64402	D	0.000007	D	0.87212	0.6121	L	0.48174	1.505	0.46478	D	0.999068	P	0.40360	0.714	B	0.31390	0.129	D	0.87568	0.2476	10	0.54805	T	0.06	-9.1882	19.3507	0.94384	0.0:1.0:0.0:0.0	.	252	Q9BPU6	DPYL5_HUMAN	L	252	ENSP00000288699:S252L;ENSP00000385549:S252L	ENSP00000288699:S252L	S	+	2	0	DPYSL5	27009670	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	4.261000	0.58841	2.873000	0.98535	0.561000	0.74099	TCG		PASS	0.517	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		9	30	9	30	---	---	---	---
ABHD1	84696	broad.mit.edu	37	2	27351984	27351984	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27351984G>A	ENST00000316470.4	+	3	561	c.447G>A	c.(445-447)agG>agA	p.R149R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	149						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.R149R(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTCTGAGGGATGGCTACC	0.517																																						uc002rit.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)AGG>AGA		abhydrolase domain-containing protein 1							64.0	61.0	62.0					2																	27351984		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27351984G>A	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.447G>A	2.37:g.27351984G>A						ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	p.R149R	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN			3	607	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		149					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.447G>A	CCDS1736.1																																																																																				PASS	0.517	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		11	29	11	29	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27430445	27430445	+	Missense_Mutation	SNP	G	G	A	rs200254716		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27430445G>A	ENST00000310574.3	-	3	547	c.74C>T	c.(73-75)tCc>tTc	p.S25F	SLC5A6_ENST00000408041.1_Missense_Mutation_p.S25F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	25					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.S25F(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GTCCATGATGGAGAAGGTAGA	0.567																																						uc002rjd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(73-75)TCC>TTC		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						171.0	136.0	147.0					2																	27430445		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430445G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.74C>T	2.37:g.27430445G>A	ENSP00000310208:p.Ser25Phe					SLC5A6_uc010eyv.1_Missense_Mutation_p.S25F|SLC5A6_uc002rje.1_Missense_Mutation_p.S25F	p.S25F	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			3	465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25			Helical; (Potential).		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.74C>T	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566647	0.65651	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518;ENST00000430186;ENST00000442731	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.87	3.98	0.46160	.	0.304858	0.30076	N	0.010467	T	0.44705	0.1306	M	0.83384	2.64	0.42866	D	0.99412	P	0.48016	0.904	P	0.52710	0.707	T	0.49283	-0.8956	10	0.44086	T	0.13	.	12.964	0.58473	0.0:0.1637:0.8363:0.0	.	25	Q9Y289	SC5A6_HUMAN	F	25	ENSP00000310208:S25F;ENSP00000384853:S25F;ENSP00000403851:S25F;ENSP00000384265:S25F;ENSP00000411536:S25F;ENSP00000401347:S25F;ENSP00000404032:S25F;ENSP00000402903:S25F	ENSP00000310208:S25F	S	-	2	0	SLC5A6	27283949	0.987000	0.35691	0.644000	0.29465	0.011000	0.07611	1.965000	0.40471	1.258000	0.44101	0.563000	0.77884	TCC		PASS	0.567	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		10	25	10	25	---	---	---	---
CAD	790	broad.mit.edu	37	2	27446793	27446793	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27446793T>C	ENST00000403525.1	+	8	1148	c.1004T>C	c.(1003-1005)tTt>tCt	p.F335S	CAD_ENST00000264705.4_Missense_Mutation_p.F335S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.F335S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGTCCAGTTTCACCCAGAG	0.537																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1003-1005)TTT>TCT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						171.0	168.0	169.0					2																	27446793		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446793T>C	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1004T>C	2.37:g.27446793T>C	ENSP00000384510:p.Phe335Ser					CAD_uc010eyw.2_Missense_Mutation_p.F335S	p.F335S	NM_004341	NP_004332	P27708	PYR1_HUMAN			8	1166	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		335			Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1004T>C		.	.	.	.	.	.	.	.	.	.	T	25.4	4.637286	0.87760	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96041	-3.89;-3.89	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.99184	1.0868	10	0.87932	D	0	-0.2656	11.8921	0.52635	0.0:0.0:0.0:1.0	.	335;335	F8VPD4;P27708	.;PYR1_HUMAN	S	335	ENSP00000264705:F335S;ENSP00000384510:F335S	ENSP00000264705:F335S	F	+	2	0	CAD	27300297	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.258000	0.78371	2.069000	0.61940	0.402000	0.26972	TTT		PASS	0.537	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			66	138	66	138	---	---	---	---
DNAJC5G	285126	broad.mit.edu	37	2	27499703	27499703	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27499703C>T	ENST00000296097.3	+	3	525	c.107C>T	c.(106-108)tCc>tTc	p.S36F	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.S36F|DNAJC5G_ENST00000406962.1_Missense_Mutation_p.S36F|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.S36F|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.S36F(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAAAAATCCTACAGGTTC	0.428																																						uc002rjl.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(106-108)TCC>TTC		DnaJ (Hsp40) homolog, subfamily C, member 5							63.0	65.0	64.0					2																	27499703		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27499703C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.107C>T	2.37:g.27499703C>T	ENSP00000296097:p.Ser36Phe					SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.S36F|DNAJC5G_uc002rjm.1_Missense_Mutation_p.S36F	p.S36F	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			3	525	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		36			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.107C>T	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126136	0.37533	.	.	ENSG00000163793	ENST00000296097;ENST00000420191;ENST00000402462;ENST00000404433;ENST00000406962	T;T;T;T;T	0.55588	1.18;0.51;1.18;1.46;1.64	4.65	4.65	0.58169	Heat shock protein DnaJ, N-terminal (3);	0.807055	0.10609	N	0.654682	T	0.68613	0.3020	M	0.69823	2.125	0.31342	N	0.683542	D;D	0.56521	0.969;0.976	P;P	0.57057	0.742;0.812	T	0.70278	-0.4916	10	0.87932	D	0	.	15.0505	0.71865	0.0:1.0:0.0:0.0	.	36;36	B4DY29;Q8N7S2	.;DNJ5G_HUMAN	F	36	ENSP00000296097:S36F;ENSP00000400382:S36F;ENSP00000384305:S36F;ENSP00000385829:S36F;ENSP00000385533:S36F	ENSP00000296097:S36F	S	+	2	0	DNAJC5G	27353207	0.989000	0.36119	0.946000	0.38457	0.408000	0.30992	4.492000	0.60334	2.154000	0.67381	0.561000	0.74099	TCC		PASS	0.428	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		12	21	12	21	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27566409	27566409	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:27566409C>A	ENST00000359541.2	-	2	442	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.G5W|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	5					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.G5W(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCCGACCCCGCAGGTATCC	0.517																																						uc002rjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)GGG>TGG		general transcription factor IIIC, polypeptide							59.0	64.0	62.0					2																	27566409		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566409C>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.13G>T	2.37:g.27566409C>A	ENSP00000352536:p.Gly5Trp					GTF3C2_uc002rju.1_Missense_Mutation_p.G16W|GTF3C2_uc002rjw.1_Missense_Mutation_p.G5W|GTF3C2_uc010eyz.1_Missense_Mutation_p.G5W	p.G5W	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	376	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		5					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.13G>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719568	0.68844	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	D;D	0.83992	-1.79;-1.79	4.8	4.8	0.61643	.	0.193952	0.36409	N	0.002608	D	0.84552	0.5497	N	0.24115	0.695	0.39861	D	0.973376	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86884	0.2044	10	0.87932	D	0	-12.9731	13.2206	0.59885	0.0:1.0:0.0:0.0	.	5;5;5	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	W	5	ENSP00000352536:G5W;ENSP00000264720:G5W	ENSP00000264720:G5W	G	-	1	0	GTF3C2	27419913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.298000	0.51818	2.493000	0.84123	0.563000	0.77884	GGG		PASS	0.517	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			4	60	4	60	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28802539	28802539	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:28802539G>A	ENST00000327757.5	+	23	1575	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	PLB1_ENST00000422425.2_Missense_Mutation_p.G522S|PLB1_ENST00000329020.6_Missense_Mutation_p.G199S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	511	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.G511S(1)|p.G522S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGTTTATAGGCGGCAATGA	0.453																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(1531-1533)GGC>AGC		phospholipase B1 precursor							147.0	135.0	139.0					2																	28802539		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28802539G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1531G>A	2.37:g.28802539G>A	ENSP00000330442:p.Gly511Ser					PLB1_uc010ezj.1_Missense_Mutation_p.G522S|PLB1_uc002rmc.2_Missense_Mutation_p.G199S|PLB1_uc002rmd.1_Missense_Mutation_p.G21S	p.G511S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			23	1531	+	Acute lymphoblastic leukemia(172;0.155)		511			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1531G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122938	0.94429	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.58	5.58	0.84498	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.97110	0.958;0.998;1.0;0.985	D	0.95115	0.8241	10	0.72032	D	0.01	-19.397	15.0635	0.71973	0.0:0.0:1.0:0.0	.	522;511;199;511	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.;.;.;PLB1_HUMAN	S	511;522;221;199	ENSP00000330442:G511S;ENSP00000416440:G522S;ENSP00000392493:G221S;ENSP00000330729:G199S	ENSP00000330442:G511S	G	+	1	0	PLB1	28656043	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	7.768000	0.85345	2.625000	0.88918	0.561000	0.74099	GGC		PASS	0.453	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			12	44	12	44	---	---	---	---
ALK	238	broad.mit.edu	37	2	29416491	29416491	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:29416491C>T	ENST00000389048.3	-	29	5368	c.4462G>A	c.(4462-4464)Gag>Aag	p.E1488K	ALK_ENST00000431873.1_Missense_Mutation_p.E318K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1488					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1488K(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTGTGCAACTCCGAAGGAGGG	0.542			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(4462-4464)GAG>AAG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						111.0	115.0	114.0					2																	29416491		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29416491C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4462G>A	2.37:g.29416491C>T	ENSP00000373700:p.Glu1488Lys					ALK_uc010ymo.1_Missense_Mutation_p.E420K	p.E1488K	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			29	5369	-	Acute lymphoblastic leukemia(172;0.155)		1488			Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.4462G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.006533	0.74932	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.76578	-1.03;2.91	5.64	5.64	0.86602	.	0.000000	0.48286	U	0.000184	T	0.75946	0.3919	M	0.63428	1.95	0.28403	N	0.918553	B	0.22346	0.068	B	0.19666	0.026	T	0.63501	-0.6623	10	0.16896	T	0.51	.	19.7162	0.96121	0.0:1.0:0.0:0.0	.	1488	Q9UM73	ALK_HUMAN	K	1488;318	ENSP00000373700:E1488K;ENSP00000414027:E318K	ENSP00000373700:E1488K	E	-	1	0	ALK	29269995	1.000000	0.71417	0.915000	0.36163	0.518000	0.34316	5.533000	0.67160	2.674000	0.91012	0.556000	0.70494	GAG		PASS	0.542	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		49	74	49	74	---	---	---	---
YPEL5	51646	broad.mit.edu	37	2	30379532	30379532	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:30379532C>T	ENST00000379520.3	+	4	519	c.15C>T	c.(13-15)ttC>ttT	p.F5F	YPEL5_ENST00000402708.1_Silent_p.F5F|YPEL5_ENST00000379519.3_Silent_p.F5F|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000261353.4_Silent_p.F5F|YPEL5_ENST00000402003.3_Silent_p.F5F	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	5								p.F5F(1)		NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GCAGAATTTTCCTTGATCATA	0.418																																						uc002rna.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)TTC>TTT		yippee-like 5							141.0	142.0	141.0					2																	30379532		2203	4300	6503	SO:0001819	synonymous_variant	51646						peptide-methionine-(S)-S-oxide reductase activity	g.chr2:30379532C>T	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.15C>T	2.37:g.30379532C>T						YPEL5_uc002rnb.3_Silent_p.F5F|YPEL5_uc002rnc.3_Silent_p.F5F|YPEL5_uc002rmz.3_Silent_p.F5F|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Silent_p.F5F	p.F5F	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN			4	576	+	Acute lymphoblastic leukemia(172;0.155)		5					D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Silent	SNP	ENST00000379520.3	37	c.15C>T	CCDS1771.1																																																																																				PASS	0.418	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215128.1	NM_016061		44	53	44	53	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:30973992G>A	ENST00000295055.8	-	11	1389	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	405					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.P405S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463																																						uc002rnn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1213-1215)CCA>TCA		calpain 13							60.0	61.0	60.0					2																	30973992		1928	4134	6062	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30973992G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1213C>T	2.37:g.30973992G>A	ENSP00000295055:p.Pro405Ser					CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			11	1389	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		405					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1213C>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855952	0.51376	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.88431	-2.38;-2.38	4.01	4.01	0.46588	Peptidase C2, calpain, large subunit, domain III (2);	0.513338	0.21020	N	0.081527	D	0.91553	0.7332	L	0.58810	1.83	0.29956	N	0.819862	D	0.89917	1.0	D	0.83275	0.996	D	0.85618	0.1262	10	0.14656	T	0.56	.	12.3735	0.55267	0.0:0.0:1.0:0.0	.	405	Q6MZZ7	CAN13_HUMAN	S	405	ENSP00000295055:P405S;ENSP00000431298:P405S	ENSP00000295055:P405S	P	-	1	0	CAPN13	30827496	0.981000	0.34729	0.251000	0.24312	0.006000	0.05464	3.987000	0.56944	2.167000	0.68274	0.561000	0.74099	CCA		PASS	0.463	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		15	30	15	30	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31562393	31562393	+	Missense_Mutation	SNP	G	G	A	rs142329784	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:31562393G>A	ENST00000379416.3	-	34	3784	c.3736C>T	c.(3736-3738)Cgc>Tgc	p.R1246C		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1246					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R1246C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGCAGTCGCGGAGCAGGGAC	0.607																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3736-3738)CGC>TGC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	G	CYS/ARG	0,4406		0,0,2203	145.0	135.0	139.0		3736	5.0	0.8	2	dbSNP_134	139	5,8595	4.3+/-15.6	0,5,4295	yes	missense	XDH	NM_000379.3	180	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	1246/1334	31562393	5,13001	2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562393G>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3736C>T	2.37:g.31562393G>A	ENSP00000368727:p.Arg1246Cys						p.R1246C	NM_000379	NP_000370	P47989	XDH_HUMAN			34	3815	-	Acute lymphoblastic leukemia(172;0.155)		1246					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3736C>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079950	0.76528	0.0	5.81E-4	ENSG00000158125	ENST00000379416	T	0.65916	-0.18	5.91	5.03	0.67393	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.81302	-0.0994	10	0.62326	D	0.03	.	14.9435	0.71012	0.069:0.0:0.931:0.0	.	1246	P47989	XDH_HUMAN	C	1246	ENSP00000368727:R1246C	ENSP00000368727:R1246C	R	-	1	0	XDH	31415897	1.000000	0.71417	0.812000	0.32479	0.982000	0.71751	4.410000	0.59774	1.500000	0.48636	0.655000	0.94253	CGC		PASS	0.607	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		30	58	30	58	---	---	---	---
AL133247.2	0	broad.mit.edu	37	2	31758810	31758810	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:31758810C>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							AGGCCTCCCTCGATTGAGCAG	0.458																																						uc002rnw.1																			0					0						c.(307-309)CGA>CAA		3-oxo-5 alpha-steroid 4-dehydrogenase 2	Azelaic Acid(DB00548)|Dutasteride(DB01126)						59.0	54.0	55.0					2																	31758810		1930	4160	6090			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31758810C>T																													2.37:g.31758810C>T							p.R103Q	NM_000348	NP_000339	P31213	S5A2_HUMAN			3	379	-	Acute lymphoblastic leukemia(172;0.155)		103						Missense_Mutation	SNP	ENST00000435713.1	37	c.308G>A																																																																																					PASS	0.458	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			8	19	8	19	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32768395	32768395	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:32768395G>A	ENST00000421745.2	+	62	12513	c.12379G>A	c.(12379-12381)Gag>Aag	p.E4127K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4127					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E4099K(1)|p.E4127K(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGTCAGGGGAGTTAGTTTA	0.473																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12379-12381)GAG>AAG		baculoviral IAP repeat-containing 6							207.0	186.0	193.0					2																	32768395		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32768395G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12379G>A	2.37:g.32768395G>A	ENSP00000393596:p.Glu4127Lys						p.E4127K	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			62	12513	+	Acute lymphoblastic leukemia(172;0.155)		4127					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12379G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	36	5.675080	0.96764	.	.	ENSG00000115760	ENST00000421745	T	0.79454	-1.27	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.86801	0.1992	10	0.72032	D	0.01	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	4127	Q9NR09	BIRC6_HUMAN	K	4127	ENSP00000393596:E4127K	ENSP00000393596:E4127K	E	+	1	0	BIRC6	32621899	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	9.869000	0.99810	2.598000	0.87819	0.650000	0.86243	GAG		PASS	0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		78	126	78	126	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37041424	37041424	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:37041424G>A	ENST00000389975.3	+	15	2259	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	VIT_ENST00000401530.1_Missense_Mutation_p.E632K|VIT_ENST00000497382.1_Missense_Mutation_p.E322K|VIT_ENST00000379241.3_Missense_Mutation_p.E631K|VIT_ENST00000379242.3_Missense_Mutation_p.E668K|VIT_ENST00000404084.1_Missense_Mutation_p.E605K	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	653	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.E668K(1)		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)				CTTTGTGGACGAGTTTGACAA	0.527																																						uc002rpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2002-2004)GAG>AAG		vitrin							133.0	112.0	119.0					2																	37041424		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37041424G>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.1957G>A	2.37:g.37041424G>A	ENSP00000374625:p.Glu653Lys					VIT_uc002rpm.2_Missense_Mutation_p.E646K|VIT_uc010ezv.2_Missense_Mutation_p.E624K|VIT_uc010ezw.2_Missense_Mutation_p.E625K	p.E668K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			16	2223	+		all_hematologic(82;0.248)	653			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.2002G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	36	5.877288	0.97055	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.148213	0.64402	D	0.000013	T	0.82268	0.5000	L	0.33753	1.03	0.80722	D	1	D;D;D;D	0.69078	0.995;0.994;0.995;0.997	P;P;P;P	0.62813	0.835;0.746;0.907;0.892	T	0.82760	-0.0298	10	0.51188	T	0.08	-15.8531	19.4602	0.94914	0.0:0.0:1.0:0.0	.	632;631;653;668	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	K	668;653;322;605;631;632	ENSP00000368544:E668K;ENSP00000374625:E653K;ENSP00000417874:E322K;ENSP00000384154:E605K;ENSP00000368543:E631K;ENSP00000385658:E632K	ENSP00000368543:E631K	E	+	1	0	VIT	36894928	1.000000	0.71417	0.973000	0.42090	0.936000	0.57629	9.827000	0.99397	2.590000	0.87494	0.655000	0.94253	GAG		PASS	0.527	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				17	27	17	27	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37230716	37230716	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:37230716C>T	ENST00000233099.5	-	31	5114	c.5019G>A	c.(5017-5019)caG>caA	p.Q1673Q	HEATR5B_ENST00000354531.2_Silent_p.Q1673Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1673						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.Q1673Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAAATAATCCTGAGCAGCTC	0.353																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(5017-5019)CAG>CAA		HEAT repeat containing 5B							84.0	85.0	85.0					2																	37230716		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37230716C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5019G>A	2.37:g.37230716C>T						HEATR5B_uc002rpo.1_5'Flank|HEATR5B_uc010ezy.1_Silent_p.Q257Q	p.Q1673Q	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			31	5115	-		all_hematologic(82;0.21)	1673					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5019G>A	CCDS33181.1																																																																																				PASS	0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		16	32	16	32	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37450511	37450512	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:37450511_37450512GG>AA	ENST00000234170.5	-	3	1827_1828	c.1682_1683CC>TT	c.(1681-1683)tCC>tTT	p.S561F		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	561					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S561F(2)|p.S561S(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TAGCTTGCTTGGAACACGTCAT	0.396																																						uc002rpz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	pancreas(1)	1						c.(1681-1683)TCC>TCT|c.(1681-1683)TCC>TTC		CCAAT/enhancer binding protein zeta																																				SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37450511G>A|g.chr2:37450512G>A	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1682_1683delinsAA	2.37:g.37450511_37450512delinsAA	ENSP00000234170:p.Ser561Phe						p.S561S|p.S561F	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			3	1713|1712	-		all_hematologic(82;0.21)	561					Q8NE75	Silent|Missense_Mutation	SNP	ENST00000234170.5	37	c.1683C>T|c.1682C>T	CCDS1787.1																																																																																				PASS	0.396	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		23	35	23	35	---	---	---	---
NDUFAF7	55471	broad.mit.edu	37	2	37468858	37468858	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:37468858C>T	ENST00000002125.4	+	5	586	c.546C>T	c.(544-546)tcC>tcT	p.S182S	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Intron	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	182					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)	p.S182S(1)									ATGCTGGATCCCCAGTGTATA	0.408																																						uc002rqa.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(544-546)TCC>TCT		hypothetical protein LOC55471 isoform 1							104.0	91.0	95.0					2																	37468858		2203	4300	6503	SO:0001819	synonymous_variant	55471				mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity	g.chr2:37468858C>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.546C>T	2.37:g.37468858C>T						C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Intron|C2orf56_uc010ynk.1_Intron|C2orf56_uc010ynl.1_Silent_p.S155S|C2orf56_uc010fah.2_Intron	p.S182S	NM_144736	NP_653337	Q7L592	MIDA_HUMAN			5	621	+		all_hematologic(82;0.21)	182					Q7Z399|Q9P1G3	Silent	SNP	ENST00000002125.4	37	c.546C>T	CCDS1788.1																																																																																				PASS	0.408	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		18	47	18	47	---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37543586	37543586	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:37543586G>A	ENST00000379066.1	-	2	844	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	PRKD3_ENST00000477132.1_5'Flank|PRKD3_ENST00000234179.2_Missense_Mutation_p.P28S			O94806	KPCD3_HUMAN	protein kinase D3	28					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.P28S(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTTGAACACGGAGAAGCAGCT	0.488																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(82-84)CCG>TCG		protein kinase D3							82.0	79.0	80.0					2																	37543586		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37543586G>A	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.82C>T	2.37:g.37543586G>A	ENSP00000368356:p.Pro28Ser					PRKD3_uc002rqf.1_Missense_Mutation_p.P28S	p.P28S	NM_005813	NP_005804	O94806	KPCD3_HUMAN			1	637	-		all_hematologic(82;0.21)	28					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.82C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654445	0.29425	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.63744	-0.06;-0.06	5.67	4.79	0.61399	.	0.258207	0.34386	N	0.004011	T	0.34948	0.0915	N	0.04508	-0.205	0.39070	D	0.960706	B;B	0.10296	0.003;0.0	B;B	0.14023	0.01;0.0	T	0.18903	-1.0322	10	0.19147	T	0.46	-6.8607	7.5096	0.27566	0.2247:0.0:0.7753:0.0	.	28;28	O94806-2;O94806	.;KPCD3_HUMAN	S	28	ENSP00000368356:P28S;ENSP00000234179:P28S	ENSP00000234179:P28S	P	-	1	0	PRKD3	37397090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.998000	0.49465	1.392000	0.46585	0.591000	0.81541	CCG		PASS	0.488	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		21	56	21	56	---	---	---	---
RMDN2	151393	broad.mit.edu	37	2	38231187	38231187	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:38231187G>T	ENST00000406384.1	+	9	1292	c.1098G>T	c.(1096-1098)aaG>aaT	p.K366N	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Splice_Site_p.K366N|RMDN2_ENST00000234195.3_Splice_Site_p.K544N|RMDN2_ENST00000407257.1_Splice_Site_p.K544N|RMDN2_ENST00000417700.2_Splice_Site_p.K221N|RMDN2_ENST00000469469.1_3'UTR	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	366						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K544N(1)|p.K366N(1)									ACTTAGCAAAGGTAATGAAGA	0.333																																						uc002rql.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1096-1098)AAG>AAT		family with sequence similarity 82, member A1							194.0	179.0	184.0					2																	38231187		2203	4300	6503	SO:0001630	splice_region_variant	151393					cytoplasm|integral to membrane|microtubule|spindle pole	binding	g.chr2:38231187G>T	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.1098+1G>T	2.37:g.38231187G>T						FAM82A1_uc002rqn.1_Missense_Mutation_p.K544N|FAM82A1_uc002rqm.2_Missense_Mutation_p.K221N	p.K366N	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN			9	1221	+			366					A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.1098G>T	CCDS54351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.048681|4.048681	0.75846|0.75846	.|.	.|.	ENSG00000115841|ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857|ENST00000425641	T;T;T;T;T;T|.	0.61980|.	0.06;0.06;0.06;0.06;0.06;0.06|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Tetratricopeptide-like helical (1);|.	0.124896|.	0.53938|.	D|.	0.000059|.	T|T	0.77246|0.77246	0.4102|0.4102	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;1.0;1.0|.	D;D;D|.	0.91635|.	0.984;0.999;0.999|.	T|T	0.79100|0.79100	-0.1942|-0.1942	10|5	0.62326|.	D|.	0.03|.	-9.9921|-9.9921	14.3472|14.3472	0.66675|0.66675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	544;221;366|.	Q96LZ7-2;Q96LZ7-4;Q96LZ7|.	.;.;RMD2_HUMAN|.	N|L	366;366;544;221;544;221|101	ENSP00000346549:K366N;ENSP00000386004:K366N;ENSP00000385049:K544N;ENSP00000392977:K221N;ENSP00000234195:K544N;ENSP00000416367:K221N|.	ENSP00000234195:K544N|.	K|V	+|+	3|1	2|0	FAM82A1|FAM82A1	38084691|38084691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	5.808000|5.808000	0.69165|0.69165	2.515000|2.515000	0.84797|0.84797	0.455000|0.455000	0.32223|0.32223	AAG|GTG		PASS	0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	Missense_Mutation	4	42	4	42	---	---	---	---
CYP1B1	1545	broad.mit.edu	37	2	38301667	38301667	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:38301667G>A	ENST00000260630.3	-	2	1266	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000407341.1_Missense_Mutation_p.P289S|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	289					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.P289S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	ATGTcgcggggggcggccccg	0.622																																						uc002rqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(865-867)CCC>TCC		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						22.0	24.0	23.0					2																	38301667		2196	4296	6492	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301667G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.865C>T	2.37:g.38301667G>A	ENSP00000260630:p.Pro289Ser						p.P289S	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	1268	-		all_hematologic(82;0.21)	289					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.865C>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176066	0.21704	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69175	-0.38;-0.38	4.55	4.55	0.56014	.	0.341060	0.32624	N	0.005860	T	0.66076	0.2753	M	0.79693	2.465	0.09310	N	0.999998	P	0.42908	0.793	B	0.43867	0.434	T	0.59204	-0.7498	10	0.09843	T	0.71	.	9.9951	0.41893	0.0:0.0:0.7984:0.2016	.	289	Q53TK1	.	S	289	ENSP00000260630:P289S;ENSP00000384972:P289S	ENSP00000260630:P289S	P	-	1	0	CYP1B1	38155171	0.999000	0.42202	0.830000	0.32933	0.173000	0.22820	3.239000	0.51360	2.348000	0.79779	0.650000	0.86243	CCC		PASS	0.622	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		6	8	6	8	---	---	---	---
DHX57	90957	broad.mit.edu	37	2	39088781	39088781	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:39088781G>A	ENST00000295373.6	-	5	897	c.771C>T	c.(769-771)tcC>tcT	p.S257S	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	257							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S257S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTCCACAGATGGACTTGAGAG	0.433																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(769-771)TCC>TCT		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							92.0	91.0	91.0					2																	39088781		2203	4300	6503	SO:0001819	synonymous_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088781G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.771C>T	2.37:g.39088781G>A						DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.S257S	p.S257S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			5	870	-		all_hematologic(82;0.248)	257					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	c.771C>T	CCDS1800.1																																																																																				PASS	0.433	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		27	59	27	59	---	---	---	---
MAP4K3	8491	broad.mit.edu	37	2	39487864	39487864	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:39487864G>A	ENST00000263881.3	-	29	2515	c.2191C>T	c.(2191-2193)Cct>Tct	p.P731S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.P647S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.P284S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P710S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	731	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P731S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCCTGTTCAGGAACTACCAGC	0.378																																						uc002rro.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(2191-2193)CCT>TCT		mitogen-activated protein kinase kinase kinase							83.0	81.0	82.0					2																	39487864		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39487864G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2191C>T	2.37:g.39487864G>A	ENSP00000263881:p.Pro731Ser					MAP4K3_uc002rrp.2_Missense_Mutation_p.P710S|MAP4K3_uc010yns.1_Missense_Mutation_p.P284S	p.P731S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			29	2282	-		all_hematologic(82;0.211)	731			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2191C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390029	0.82902	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.74315	-0.83;-0.66;-0.8;2.1	4.98	4.11	0.48088	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	D	0.88133	0.2839	10	0.59425	D	0.04	.	13.4086	0.60929	0.0756:0.0:0.9244:0.0	.	710;731	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	731;647;710;27;284	ENSP00000263881:P731S;ENSP00000416958:P647S;ENSP00000345434:P710S;ENSP00000440580:P284S	ENSP00000263881:P731S	P	-	1	0	MAP4K3	39341368	1.000000	0.71417	0.489000	0.27452	0.996000	0.88848	9.517000	0.98020	1.326000	0.45319	0.655000	0.94253	CCT		PASS	0.378	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		21	34	21	34	---	---	---	---
TMEM178A	130733	broad.mit.edu	37	2	39944150	39944150	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:39944150G>A	ENST00000281961.2	+	4	709	c.653G>A	c.(652-654)gGg>gAg	p.G218E	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	218						integral component of membrane (GO:0016021)		p.G218E(1)									TTATTTATAGGGATATTTTGC	0.408																																						uc002rrt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GGG>GAG		transmembrane protein 178 precursor							127.0	125.0	126.0					2																	39944150		2203	4300	6503	SO:0001630	splice_region_variant	130733					integral to membrane		g.chr2:39944150G>A	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.653-1G>A	2.37:g.39944150G>A						TMEM178_uc010fam.1_Missense_Mutation_p.R172Q	p.G218E	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN			4	678	+		all_hematologic(82;0.248)	218			Helical; (Potential).		Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	c.653G>A	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667058	0.88251	.	.	ENSG00000152154	ENST00000281961	T	0.74315	-0.83	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.85687	0.5754	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84616	0.0681	9	.	.	.	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	218	Q8NBL3	TM178_HUMAN	E	218	ENSP00000281961:G218E	.	G	+	2	0	TMEM178	39797654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.931000	0.92884	2.793000	0.96121	0.655000	0.94253	GGG		PASS	0.408	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	Missense_Mutation	77	29	77	29	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40655928	40655928	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:40655928A>T	ENST00000403092.1	-	2	1526	c.1493T>A	c.(1492-1494)gTc>gAc	p.V498D	SLC8A1_ENST00000405269.1_Missense_Mutation_p.V498D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V498D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V498D|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V498D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V498D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V498D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V498D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V498D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.V498D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	498					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V498D(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGATACTTTGACATTGCTGAG	0.428																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1492-1494)GTC>GAC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						78.0	76.0	77.0					2																	40655928		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655928A>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1493T>A	2.37:g.40655928A>T	ENSP00000384763:p.Val498Asp					SLC8A1_uc002rry.2_Missense_Mutation_p.V498D|SLC8A1_uc002rrz.2_Missense_Mutation_p.V498D|SLC8A1_uc002rsa.2_Missense_Mutation_p.V498D|SLC8A1_uc002rsd.3_Missense_Mutation_p.V498D|SLC8A1_uc002rsb.1_Missense_Mutation_p.V498D|SLC8A1_uc010fan.1_Missense_Mutation_p.V498D|SLC8A1_uc002rsc.1_Missense_Mutation_p.V498D	p.V498D	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1517	-			498			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1493T>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355891	0.61293	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.77557	0.978;0.99;0.982;0.989;0.96	T	0.50162	-0.8860	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	498;498;498;498;498	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	D	498	ENSP00000383886:V498D;ENSP00000440727:V498D;ENSP00000384763:V498D;ENSP00000385678:V498D;ENSP00000385188:V498D;ENSP00000385535:V498D;ENSP00000332931:V498D;ENSP00000384908:V498D;ENSP00000385811:V498D;ENSP00000443515:V498D	ENSP00000332931:V498D	V	-	2	0	SLC8A1	40509432	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.151000	0.94674	2.371000	0.80710	0.533000	0.62120	GTC		PASS	0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		20	32	20	32	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43520065	43520065	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:43520065C>T	ENST00000405006.4	-	32	5077	c.4726G>A	c.(4726-4728)Gga>Aga	p.G1576R	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.G1576R|THADA_ENST00000415080.2_Missense_Mutation_p.G1257R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1576								p.G1576R(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCCTTCTCTCCAAGTCCAGAG	0.493																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4726-4728)GGA>AGA		thyroid adenoma associated							41.0	40.0	41.0					2																	43520065		1936	4143	6079	SO:0001583	missense	63892						binding	g.chr2:43520065C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4726G>A	2.37:g.43520065C>T	ENSP00000385995:p.Gly1576Arg					THADA_uc010far.2_Missense_Mutation_p.G771R|THADA_uc002rsx.3_Missense_Mutation_p.G1576R|THADA_uc002rsy.3_RNA	p.G1576R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			32	5078	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1576					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4726G>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.528923	0.00951	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.69306	-0.39;-0.39;-0.39	5.26	2.51	0.30379	.	1.202400	0.05857	N	0.622359	T	0.48295	0.1492	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.27262	-1.0079	10	0.14252	T	0.57	.	8.7141	0.34401	0.0:0.7598:0.0:0.2402	.	1503;1576	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	R	1576;1503;1257;1576	ENSP00000386088:G1576R;ENSP00000416048:G1257R;ENSP00000385995:G1576R	ENSP00000349464:G1503R	G	-	1	0	THADA	43373569	0.000000	0.05858	0.002000	0.10522	0.105000	0.19272	0.848000	0.27710	0.249000	0.21456	0.650000	0.86243	GGA		PASS	0.493	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		13	27	13	27	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43798883	43798883	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:43798883G>A	ENST00000405006.4	-	13	2378	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	THADA_ENST00000402360.2_Missense_Mutation_p.P676L|THADA_ENST00000330266.7_Missense_Mutation_p.P386L|THADA_ENST00000404790.1_Missense_Mutation_p.P676L|THADA_ENST00000405975.2_Missense_Mutation_p.P676L|THADA_ENST00000415080.2_Missense_Mutation_p.P386L|THADA_ENST00000403856.1_Missense_Mutation_p.P676L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	676								p.P676L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCGCACTCCTGGAGACTGGCT	0.398																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2026-2028)CCA>CTA		thyroid adenoma associated							115.0	119.0	118.0					2																	43798883		1876	4107	5983	SO:0001583	missense	63892						binding	g.chr2:43798883G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2027C>T	2.37:g.43798883G>A	ENSP00000385995:p.Pro676Leu					THADA_uc010far.2_5'Flank|THADA_uc002rsx.3_Missense_Mutation_p.P676L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.P386L|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.P386L|THADA_uc002rtb.1_Missense_Mutation_p.P676L|THADA_uc002rtc.3_Missense_Mutation_p.P676L|THADA_uc002rtd.2_Missense_Mutation_p.P676L	p.P676L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			13	2379	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	676					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2027C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923268	0.92319	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.22;-0.22;1.33	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82403	0.5029	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.997	D	0.84412	0.0566	10	0.87932	D	0	.	19.0152	0.92890	0.0:0.0:1.0:0.0	.	676;676;676;386;676	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	L	386;676;676;386;676;676;676;676	ENSP00000331105:P386L;ENSP00000386088:P676L;ENSP00000416048:P386L;ENSP00000385995:P676L;ENSP00000385441:P676L;ENSP00000384266:P676L;ENSP00000385469:P676L	ENSP00000331105:P386L	P	-	2	0	THADA	43652387	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.262000	0.95591	2.563000	0.86464	0.591000	0.81541	CCA		PASS	0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		43	78	43	78	---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46607560	46607560	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:46607560C>T	ENST00000263734.3	+	12	2259	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	583					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.F583F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGTCCCTTCCTCCTGGACA	0.597																																						uc002ruv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1747-1749)TTC>TTT		endothelial PAS domain protein 1							73.0	83.0	79.0					2																	46607560		2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607560C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1749C>T	2.37:g.46607560C>T						EPAS1_uc002ruw.2_Silent_p.F49F	p.F583F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2237	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	583					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.1749C>T	CCDS1825.1																																																																																				PASS	0.597	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		24	39	24	39	---	---	---	---
SOCS5	9655	broad.mit.edu	37	2	46986423	46986423	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:46986423C>T	ENST00000306503.5	+	2	926	c.754C>T	c.(754-756)Cca>Tca	p.P252S	SOCS5_ENST00000394861.2_Missense_Mutation_p.P252S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	252					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.P252S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TACATTTGATCCATCTTTGGT	0.423																																						uc002rvf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(754-756)CCA>TCA		suppressor of cytokine signaling 5							51.0	52.0	51.0					2																	46986423		2203	4299	6502	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986423C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.754C>T	2.37:g.46986423C>T	ENSP00000305133:p.Pro252Ser					SOCS5_uc010yoe.1_Missense_Mutation_p.P221S|SOCS5_uc002rvg.2_Missense_Mutation_p.P252S	p.P252S	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	918	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	252					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.754C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909190	0.33721	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.30448	1.53;1.53	5.43	5.43	0.79202	.	0.226336	0.46758	N	0.000264	T	0.18551	0.0445	N	0.04508	-0.205	0.50467	D	0.999879	B	0.10296	0.003	B	0.09377	0.004	T	0.06303	-1.0834	10	0.38643	T	0.18	-14.7759	19.0206	0.92912	0.0:1.0:0.0:0.0	.	252	O75159	SOCS5_HUMAN	S	252	ENSP00000305133:P252S;ENSP00000378330:P252S	ENSP00000305133:P252S	P	+	1	0	SOCS5	46839927	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.766000	0.62279	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.423	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			13	36	13	36	---	---	---	---
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																						uc002rvf.2																			3	Substitution - Missense(3)		large_intestine(2)|lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1390-1392)TCG>TTG		suppressor of cytokine signaling 5		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	107.0		1391,1391	4.6	1.0	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987060C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	2.37:g.46987060C>T	ENSP00000305133:p.Ser464Leu					SOCS5_uc010yoe.1_Missense_Mutation_p.S433L|SOCS5_uc002rvg.2_Missense_Mutation_p.S464L	p.S464L	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1555	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	464			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1391C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		PASS	0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			20	54	20	54	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48681800	48681800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48681800C>T	ENST00000294952.8	+	3	350	c.193C>T	c.(193-195)Cga>Tga	p.R65*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.R65*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.R65*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	65						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.R65*(2)		endometrium(2)|kidney(4)|lung(9)	15						TTTGACATTTCGAAATCTGCA	0.403																																						uc002rwm.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(193-195)CGA>TGA		KLRAQ motif containing 1 isoform 1							91.0	84.0	87.0					2																	48681800		2203	4300	6503	SO:0001587	stop_gained	129285							g.chr2:48681800C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.193C>T	2.37:g.48681800C>T	ENSP00000294952:p.Arg65*					KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.R65*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.R65*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.R19*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.R65*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.R65*	p.R65*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			3	378	+			65			Potential.		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.193C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824885	0.90955	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090;ENST00000421486	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3542	14.3901	0.66973	0.1477:0.8523:0.0:0.0	.	.	.	.	X	65;65;65;19	.	ENSP00000281394:R65X	R	+	1	2	KLRAQ1	48535304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.862000	0.56009	2.614000	0.88457	0.655000	0.94253	CGA		PASS	0.403	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		19	42	19	42	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48698265	48698265	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48698265C>T	ENST00000294952.8	+	10	1094	c.937C>T	c.(937-939)Cct>Tct	p.P313S	PPP1R21_ENST00000449090.2_Missense_Mutation_p.P313S|PPP1R21_ENST00000281394.4_Missense_Mutation_p.P313S	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	313						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.P313S(2)		endometrium(2)|kidney(4)|lung(9)	15						CTATGTCCGCCCTCTTGAGGA	0.373																																						uc002rwm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(937-939)CCT>TCT		KLRAQ motif containing 1 isoform 1							110.0	104.0	106.0					2																	48698265		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48698265C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.937C>T	2.37:g.48698265C>T	ENSP00000294952:p.Pro313Ser					KLRAQ1_uc002rwi.1_Missense_Mutation_p.P313S|KLRAQ1_uc002rwj.2_Missense_Mutation_p.P313S|KLRAQ1_uc002rwl.2_Missense_Mutation_p.P267S|KLRAQ1_uc002rwk.2_Missense_Mutation_p.P313S|KLRAQ1_uc010yok.1_Missense_Mutation_p.P313S	p.P313S	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			10	1122	+			313					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.937C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038592	0.93630	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74473	0.3721	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.972	D;D;D;D;P	0.91635	0.99;0.999;0.983;0.934;0.742	T	0.66296	-0.5959	9	0.09084	T	0.74	-19.1646	19.2914	0.94102	0.0:1.0:0.0:0.0	.	313;313;313;313;313	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	S	313	.	ENSP00000281394:P313S	P	+	1	0	KLRAQ1	48551769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.908000	0.75730	2.793000	0.96121	0.561000	0.74099	CCT		PASS	0.373	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		11	21	11	21	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808054	48808054	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48808054C>T	ENST00000406226.1	+	3	477	c.282C>T	c.(280-282)atC>atT	p.I94I	STON1-GTF2A1L_ENST00000402114.2_Silent_p.I94I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I94I|STON1_ENST00000309835.3_Silent_p.I94I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I94I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I94I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I94I|STON1_ENST00000404752.1_Silent_p.I94I	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	94					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.I94I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCTGGCATCCCCAAAGCAG	0.473																																						uc010yol.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(280-282)ATC>ATT		stonin 1							122.0	124.0	123.0					2																	48808054		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808054C>T	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.282C>T	2.37:g.48808054C>T						STON1_uc002rwo.3_Silent_p.I94I|STON1_uc010fbm.2_Silent_p.I94I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I94I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I94I	p.I94I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	329	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	94					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.282C>T	CCDS1841.1																																																																																				PASS	0.473	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		34	64	34	64	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873632	48873632	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48873632G>A	ENST00000403751.3	+	6	466	c.429G>A	c.(427-429)gaG>gaA	p.E143E	STON1-GTF2A1L_ENST00000402114.2_Silent_p.E847E|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Silent_p.E109E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E847E|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E800E|STON1-GTF2A1L_ENST00000405008.1_Silent_p.E847E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E847E	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	143					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E847E(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTGACAGAGACTTCTGGAA	0.353																																						uc010yol.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2398-2400)GAG>GAA		stonin 1							87.0	86.0	86.0					2																	48873632		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873632G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.429G>A	2.37:g.48873632G>A						STON1-GTF2A1L_uc002rwp.1_Silent_p.E847E|GTF2A1L_uc002rws.1_Silent_p.E143E|GTF2A1L_uc010yom.1_Silent_p.E109E|GTF2A1L_uc002rwt.2_Silent_p.E143E	p.E800E	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2447	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	800					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2400G>A	CCDS46281.1																																																																																				PASS	0.353	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		16	28	16	28	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48898743	48898743	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48898743C>T	ENST00000403751.3	+	8	1290	c.1253C>T	c.(1252-1254)tCt>tTt	p.S418F	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1122F|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S384F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1122F|LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S1075F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1122F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S1122F	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	418					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S67F(2)|p.S1122F(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTTAAATTCTGGAGATGAT	0.328																																						uc010yol.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(3223-3225)TCT>TTT		stonin 1							195.0	187.0	190.0					2																	48898743		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48898743C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1253C>T	2.37:g.48898743C>T	ENSP00000384597:p.Ser418Phe					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S1122F|GTF2A1L_uc002rws.1_Missense_Mutation_p.S418F|GTF2A1L_uc010yom.1_Missense_Mutation_p.S384F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S418F	p.S1075F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3271	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1075					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3224C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272419	0.80580	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	6.09	6.09	0.99107	.	0.694356	0.15814	N	0.243323	T	0.79335	0.4428	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.999;0.998;1.0;0.989;0.999	T	0.80708	-0.1262	10	0.87932	D	0	.	19.2587	0.93959	0.0:1.0:0.0:0.0	.	384;1075;1122;418;1122	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	F	1122;1122;1122;1122;1075;417;384;418;67	ENSP00000385499:S1122F;ENSP00000385701:S1122F;ENSP00000378236:S1122F;ENSP00000311493:S1122F;ENSP00000378234:S1075F;ENSP00000387896:S384F;ENSP00000384597:S418F;ENSP00000421474:S67F	ENSP00000384597:S418F	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48752247	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.490000	0.53245	2.899000	0.99337	0.655000	0.94253	TCT		PASS	0.328	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		19	40	19	40	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48936160	48936160	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:48936160C>T	ENST00000294954.7	-	8	628	c.607G>A	c.(607-609)Gag>Aag	p.E203K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Splice_Site_p.E203K|LHCGR_ENST00000405626.1_Splice_Site_p.E203K|LHCGR_ENST00000344775.3_Splice_Site_p.E203K|LHCGR_ENST00000401907.1_Splice_Site_p.E203K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	203					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.E203K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCCTTTAGCTCCCTGTGGGGA	0.493																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(607-609)GAG>AAG		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						198.0	168.0	178.0					2																	48936160		2203	4300	6503	SO:0001630	splice_region_variant	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48936160C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.606-1G>A	2.37:g.48936160C>T						GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA	p.E203K	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	677	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	203			Extracellular (Potential).|LRR 5.		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.607G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484796	0.44147	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907	D;D;D;D;D	0.91351	-2.83;-2.83;-1.72;-2.83;-2.83	5.04	5.04	0.67666	.	0.348482	0.31188	N	0.008086	D	0.85986	0.5825	L	0.42744	1.35	0.24235	N	0.995385	P	0.34615	0.459	B	0.37267	0.245	T	0.77109	-0.2709	9	.	.	.	.	9.3518	0.38142	0.0:0.9052:0.0:0.0948	.	203	P22888	LSHR_HUMAN	K	203	ENSP00000344301:E203K;ENSP00000294954:E203K;ENSP00000386033:E203K;ENSP00000385847:E203K;ENSP00000385406:E203K	.	E	-	1	0	LHCGR	48789664	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.234000	0.43035	2.617000	0.88574	0.655000	0.94253	GAG		PASS	0.493	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	Missense_Mutation	19	33	19	33	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49191091	49191091	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:49191091G>T	ENST00000406846.2	-	10	988	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	FSHR_ENST00000304421.4_Missense_Mutation_p.P264Q|FSHR_ENST00000541117.1_Missense_Mutation_p.P26Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P228Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	290					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.P290Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGCAAATTGGATGAAGCTC	0.388									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(868-870)CCA>CAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						92.0	90.0	91.0					2																	49191091		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49191091G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.869C>A	2.37:g.49191091G>T	ENSP00000384708:p.Pro290Gln					FSHR_uc002rwx.2_Missense_Mutation_p.P228Q|FSHR_uc010fbn.2_Missense_Mutation_p.P264Q	p.P290Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	943	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	290			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.869C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174230	0.57692	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.53	5.53	0.82687	Gonadotropin hormone receptor, transmembrane domain (1);	0.246425	0.41294	D	0.000913	D	0.84593	0.5506	M	0.77486	2.375	0.53688	D	0.99997	P;P;P	0.52463	0.953;0.942;0.953	P;P;P	0.58013	0.819;0.831;0.819	D	0.83962	0.0322	9	.	.	.	.	18.6325	0.91364	0.0:0.0:1.0:0.0	.	264;228;290	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	290;228;264;26;228	ENSP00000384708:P290Q;ENSP00000333908:P228Q;ENSP00000306780:P264Q;ENSP00000444172:P26Q;ENSP00000415504:P228Q	.	P	-	2	0	FSHR	49044595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.193000	0.58385	2.882000	0.98803	0.655000	0.94253	CCA		PASS	0.388	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			7	130	7	130	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50280573	50280573	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:50280573C>T	ENST00000406316.2	-	20	5350	c.3874G>A	c.(3874-3876)Gga>Aga	p.G1292R	NRXN1_ENST00000401669.2_Missense_Mutation_p.G1322R|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1292R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1314R|NRXN1_ENST00000401710.1_Missense_Mutation_p.G310R|NRXN1_ENST00000342183.5_Missense_Mutation_p.G257R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1314R|NRXN1_ENST00000404971.1_Missense_Mutation_p.G1362R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1292	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G1292R(1)|p.G1362R(1)|p.G257R(1)|p.G1363R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACATTTCCCACTATGGCG	0.507																																						uc010fbp.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(769-771)GGA>AGA		neurexin 1 isoform beta precursor							155.0	130.0	138.0					2																	50280573		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280573C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3874G>A	2.37:g.50280573C>T	ENSP00000384311:p.Gly1292Arg					NRXN1_uc002rxb.3_Missense_Mutation_p.G994R|NRXN1_uc010fbq.2_Missense_Mutation_p.G1362R|NRXN1_uc002rxe.3_Missense_Mutation_p.G1292R	p.G257R	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1576	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	257			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.769G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054091	0.93793	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;D;T;D;D;D;T	0.93859	0.47;1.66;-2.55;-0.14;-3.3;-3.19;-2.88;-0.27	5.65	4.78	0.61160	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.53938	U	0.000051	D	0.97108	0.9055	M	0.90650	3.135	0.53005	D	0.99996	D;D;D;D	0.89917	0.999;1.0;0.984;0.99	D;D;D;D	0.85130	0.967;0.997;0.945;0.928	D	0.97774	1.0228	10	0.87932	D	0	.	14.3234	0.66502	0.0:0.9289:0.0:0.0711	.	1362;257;1292;1314	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	R	257;211;310;1362;1292;1314;1322;1363;1314;1292	ENSP00000341184:G257R;ENSP00000385580:G310R;ENSP00000385142:G1362R;ENSP00000384311:G1292R;ENSP00000434015:G1314R;ENSP00000385017:G1322R;ENSP00000385434:G1314R;ENSP00000385681:G1292R	ENSP00000341184:G257R	G	-	1	0	NRXN1	50134077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.392000	0.46585	0.655000	0.94253	GGA		PASS	0.507	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	35	17	35	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58386588	58386588	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:58386588T>C	ENST00000435505.2	+	16	2032	c.1287T>C	c.(1285-1287)ttT>ttC	p.F429F	VRK2_ENST00000440705.2_Silent_p.F406F|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Silent_p.F429F|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000403295.3_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	429	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F429F(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAACTCATTTTATGAGCCTC	0.383																																						uc002rzo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1285-1287)TTT>TTC		vaccinia related kinase 2 isoform 2							64.0	67.0	66.0					2																	58386588		2203	4298	6501	SO:0001819	synonymous_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58386588T>C	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1287T>C	2.37:g.58386588T>C						VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.F311F|VRK2_uc002rzv.2_Silent_p.F429F|VRK2_uc010fcd.2_Silent_p.F406F|VRK2_uc002rzp.2_Silent_p.F429F|VRK2_uc010ypg.1_Silent_p.F429F|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.F311F|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	p.F429F	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			16	2032	+			429					B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Silent	SNP	ENST00000435505.2	37	c.1287T>C	CCDS1859.1																																																																																				PASS	0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		19	36	19	36	---	---	---	---
PAPOLG	64895	broad.mit.edu	37	2	61014149	61014149	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:61014149C>T	ENST00000238714.3	+	14	1483	c.1234C>T	c.(1234-1236)Ctt>Ttt	p.L412F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	412					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L412F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTTATTACTCTTGCCCATGT	0.303																																					GBM(183;1497 2932 21839 46797)	uc002sai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1234-1236)CTT>TTT		poly(A) polymerase gamma							133.0	134.0	133.0					2																	61014149		2203	4300	6503	SO:0001583	missense	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:61014149C>T	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1234C>T	2.37:g.61014149C>T	ENSP00000238714:p.Leu412Phe					PAPOLG_uc002saj.2_Missense_Mutation_p.L101F|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Missense_Mutation_p.L101F	p.L412F	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		14	1465	+	all_hematologic(2;0.0797)		412					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.1234C>T	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019511	0.75275	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.36	5.36	0.76844	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.057487	0.64402	D	0.000001	T	0.79868	0.4520	M	0.79693	2.465	0.54753	D	0.999989	D;P	0.89917	1.0;0.892	D;P	0.85130	0.997;0.762	T	0.82259	-0.0546	9	0.87932	D	0	-11.0976	15.0232	0.71647	0.1428:0.8572:0.0:0.0	.	101;412	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	F	412;101;80	.	ENSP00000238714:L412F	L	+	1	0	PAPOLG	60867653	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	2.509000	0.45459	2.656000	0.90262	0.655000	0.94253	CTT		PASS	0.303	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894		17	33	17	33	---	---	---	---
FAM161A	84140	broad.mit.edu	37	2	62069296	62069296	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:62069296G>A	ENST00000405894.3	-	2	484	c.383C>T	c.(382-384)cCa>cTa	p.P128L	FAM161A_ENST00000404929.1_Missense_Mutation_p.P128L	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	128					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.P128L(2)|p.P19L(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATGACCACTGGCTGAACTTC	0.348																																						uc010ypo.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)	3						c.(382-384)CCA>CTA		hypothetical protein LOC84140							115.0	108.0	110.0					2																	62069296		1833	4080	5913	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62069296G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.383C>T	2.37:g.62069296G>A	ENSP00000385893:p.Pro128Leu					FAM161A_uc002sbm.3_Missense_Mutation_p.P128L|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.P19L	p.P128L	NM_032180	NP_115556	Q3B820	F161A_HUMAN			2	485	-			128					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.383C>T	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529093	0.44969	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.69040	-0.37;-0.37	5.95	5.08	0.68730	.	0.407251	0.24930	N	0.034474	T	0.75398	0.3844	L	0.59436	1.845	0.22521	N	0.999025	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.951	T	0.66791	-0.5834	10	0.51188	T	0.08	-6.8469	9.1397	0.36897	0.0739:0.0:0.7815:0.1446	.	128;128	Q3B820;Q3B820-3	F161A_HUMAN;.	L	128	ENSP00000385158:P128L;ENSP00000385893:P128L	ENSP00000385158:P128L	P	-	2	0	FAM161A	61922800	1.000000	0.71417	0.895000	0.35142	0.114000	0.19823	2.817000	0.48034	1.530000	0.49136	0.655000	0.94253	CCA		PASS	0.348	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		25	68	25	68	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63605587	63605587	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:63605587G>A	ENST00000272321.7	-	12	2209	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	WDPCP_ENST00000409199.1_Missense_Mutation_p.S369F|WDPCP_ENST00000409562.3_Missense_Mutation_p.S561F|WDPCP_ENST00000409120.1_Missense_Mutation_p.S369F|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.S402F	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	561					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S561F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAATATAGTGGAATCCAGAAG	0.403																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1681-1683)TCC>TTC		hypothetical protein LOC51057 isoform 2							132.0	124.0	126.0					2																	63605587		1842	4088	5930	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63605587G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1682C>T	2.37:g.63605587G>A	ENSP00000272321:p.Ser561Phe					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S402F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S369F|C2orf86_uc002sci.1_Missense_Mutation_p.S537F	p.S561F	NM_015910	NP_056994	O95876	FRITZ_HUMAN			12	2128	-			561					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1682C>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065834	0.36470	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.46	5.46	0.80206	.	0.557197	0.18543	N	0.138135	T	0.32704	0.0838	N	0.08118	0	0.23249	N	0.998047	B;B;B	0.33477	0.168;0.413;0.34	B;B;B	0.40444	0.086;0.329;0.116	T	0.42015	-0.9476	10	0.62326	D	0.03	-2.2224	16.334	0.83052	0.0:0.1318:0.8682:0.0	.	561;561;402	O95876-2;O95876;O95876-3	.;FRITZ_HUMAN;.	F	561;369;369;402;561	ENSP00000272321:S561F;ENSP00000386592:S369F;ENSP00000386769:S369F;ENSP00000381552:S402F;ENSP00000387222:S561F	ENSP00000272321:S561F	S	-	2	0	WDPCP	63459091	0.993000	0.37304	0.987000	0.45799	0.986000	0.74619	4.531000	0.60602	2.559000	0.86315	0.655000	0.94253	TCC		PASS	0.403	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		21	39	21	39	---	---	---	---
PELI1	57162	broad.mit.edu	37	2	64322102	64322102	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:64322102G>A	ENST00000358912.4	-	7	1433	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	331					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R331C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						GGACATTCACGATCTTTTCCA	0.463																																						uc002scs.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)CGT>TGT		pellino protein							236.0	209.0	218.0					2																	64322102		2203	4300	6503	SO:0001583	missense	57162				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol		g.chr2:64322102G>A		CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.991C>T	2.37:g.64322102G>A	ENSP00000351789:p.Arg331Cys					PELI1_uc002sct.3_Missense_Mutation_p.R331C|PELI1_uc002scr.3_Missense_Mutation_p.R152C	p.R331C	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN			6	5030	-			331					Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	ENST00000358912.4	37	c.991C>T	CCDS1876.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345878	0.61073	.	.	ENSG00000197329	ENST00000358912	T	0.51574	0.7	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77250	-0.2657	10	0.87932	D	0	-16.5931	20.2187	0.98312	0.0:0.0:1.0:0.0	.	331	Q96FA3	PELI1_HUMAN	C	331	ENSP00000351789:R331C	ENSP00000351789:R331C	R	-	1	0	PELI1	64175606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.057000	0.57455	2.780000	0.95670	0.655000	0.94253	CGT		PASS	0.463	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651		42	96	42	96	---	---	---	---
LGALSL	29094	broad.mit.edu	37	2	64682722	64682722	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:64682722G>A	ENST00000238875.5	+	3	562		c.e3-1		LGALSL_ENST00000409537.2_Splice_Site|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like							intracellular (GO:0005622)	carbohydrate binding (GO:0030246)	p.?(1)									ACCCTTTTCAGATAGTTCCAT	0.468																																						uc002scy.3																			1	Unknown(1)		lung(1)		0						c.e3-1		galectin-related protein							111.0	100.0	104.0					2																	64682722		2203	4300	6503	SO:0001630	splice_region_variant	29094					intracellular	sugar binding	g.chr2:64682722G>A	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.109-1G>A	2.37:g.64682722G>A							p.I37_splice	NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN			3	462	+								B2RBG8|D6W5E8|Q6P5T6|Q9P005	Splice_Site	SNP	ENST00000238875.5	37	c.109_splice	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927933	0.52759	.	.	ENSG00000119862	ENST00000238875;ENST00000409537	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0998	0.89503	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC008074.1	64536226	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	9.072000	0.93986	2.267000	0.75376	0.561000	0.74099	.		PASS	0.468	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181	Intron	9	22	9	22	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64812640	64812640	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:64812640G>A	ENST00000422803.1	+	9	2938	c.2624G>A	c.(2623-2625)aGa>aAa	p.R875K	AFTPH_ENST00000238855.7_Missense_Mutation_p.R875K|AFTPH_ENST00000409183.1_Missense_Mutation_p.R506K|AFTPH_ENST00000238856.4_Missense_Mutation_p.R847K|AFTPH_ENST00000409933.1_Missense_Mutation_p.R875K|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	875					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.R875K(1)|p.R847K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCATTTGCAAGACTCATGTCT	0.383																																						uc002sdc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2623-2625)AGA>AAA		aftiphilin protein isoform a							139.0	146.0	143.0					2																	64812640		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64812640G>A	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2624G>A	2.37:g.64812640G>A	ENSP00000397726:p.Arg875Lys					AFTPH_uc002scz.2_Missense_Mutation_p.R875K|AFTPH_uc002sda.2_Missense_Mutation_p.R847K|AFTPH_uc002sdb.2_Missense_Mutation_p.R847K	p.R875K	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			8	2656	+			875					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.2624G>A		.	.	.	.	.	.	.	.	.	.	G	14.94	2.684854	0.47991	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.43688	1.99;1.95;1.94;1.94;0.94	5.93	4.1	0.47936	.	0.048290	0.85682	N	0.000000	T	0.28962	0.0719	L	0.34521	1.04	0.38222	D	0.940792	B;B;B;B	0.33022	0.394;0.037;0.0;0.002	B;B;B;B	0.31547	0.132;0.016;0.001;0.006	T	0.14364	-1.0475	10	0.20046	T	0.44	-7.5961	10.6714	0.45760	0.2087:0.0:0.7913:0.0	.	875;847;847;875	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	847;875;875;875;506	ENSP00000238856:R847K;ENSP00000397726:R875K;ENSP00000238855:R875K;ENSP00000387071:R875K;ENSP00000386913:R506K	ENSP00000238855:R875K	R	+	2	0	AFTPH	64666144	1.000000	0.71417	0.942000	0.38095	0.972000	0.66771	5.141000	0.64814	1.492000	0.48499	0.591000	0.81541	AGA		PASS	0.383	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		38	103	38	103	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68607526	68607526	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:68607526A>T	ENST00000234313.7	+	2	288	c.109A>T	c.(109-111)Aag>Tag	p.K37*		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	37	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.K37*(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGAATTCTATAAGAAGAAAAG	0.443																																						uc002sen.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(109-111)AAG>TAG		pleckstrin							72.0	74.0	74.0					2																	68607526		2203	4300	6503	SO:0001587	stop_gained	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607526A>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.109A>T	2.37:g.68607526A>T	ENSP00000234313:p.Lys37*					PLEK_uc010fde.2_Nonsense_Mutation_p.K37*	p.K37*	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	2	271	+		Ovarian(717;0.0129)	37			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Nonsense_Mutation	SNP	ENST00000234313.7	37	c.109A>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	38	6.924934	0.97940	.	.	ENSG00000115956	ENST00000234313	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8598	0.70372	1.0:0.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000234313:K37X	K	+	1	0	PLEK	68461030	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	8.962000	0.93254	1.910000	0.55303	0.533000	0.62120	AAG		PASS	0.443	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		21	42	21	42	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71360531	71360531	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:71360531C>T	ENST00000244230.2	+	2	945	c.593C>T	c.(592-594)tCc>tTc	p.S198F	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S198F	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	198					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.S198F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGAGAAAAGTCCATAGTAGAT	0.378																																						uc002sht.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(592-594)TCC>TTC		M-phase phosphoprotein 10							80.0	86.0	84.0					2																	71360531		2200	4299	6499	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360531C>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.593C>T	2.37:g.71360531C>T	ENSP00000244230:p.Ser198Phe					MPHOSPH10_uc010feb.1_Missense_Mutation_p.S198F	p.S198F	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	945	+			198					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.593C>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426353	0.62733	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10860	2.83;2.83	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02031	-1.1226	10	0.15499	T	0.54	.	16.2483	0.82460	0.0:1.0:0.0:0.0	.	198;198	B3KPV5;O00566	.;MPP10_HUMAN	F	198;58	ENSP00000244230:S198F;ENSP00000393034:S58F	ENSP00000244230:S198F	S	+	2	0	MPHOSPH10	71214039	1.000000	0.71417	0.912000	0.35992	0.259000	0.26198	7.360000	0.79487	2.524000	0.85096	0.484000	0.47621	TCC		PASS	0.378	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		29	81	29	81	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71591282	71591282	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:71591282C>T	ENST00000409544.1	+	5	2247	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.S539S|ZNF638_ENST00000377802.2_Silent_p.S539S|ZNF638_ENST00000355812.3_Silent_p.S539S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	539	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S539S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GATCCAGATCCCGTTCACCAT	0.438																																						uc002shx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1615-1617)TCC>TCT		zinc finger protein 638							104.0	98.0	100.0					2																	71591282		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71591282C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1617C>T	2.37:g.71591282C>T						ZNF638_uc010fec.2_Silent_p.S645S|ZNF638_uc010yqw.1_Silent_p.S118S|ZNF638_uc002shw.2_Silent_p.S539S|ZNF638_uc002shy.2_Silent_p.S539S|ZNF638_uc002shz.2_Silent_p.S539S|ZNF638_uc002sia.2_Silent_p.S539S|ZNF638_uc002sib.1_Silent_p.S539S|ZNF638_uc010fed.2_5'Flank	p.S539S	NM_014497	NP_055312	Q14966	ZN638_HUMAN			5	1936	+			539			Arg-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.1617C>T	CCDS1917.1																																																																																				PASS	0.438	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		24	35	24	35	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71654208	71654208	+	Missense_Mutation	SNP	G	G	A	rs4479447		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:71654208G>A	ENST00000409544.1	+	24	5839	c.5209G>A	c.(5209-5211)Gat>Aat	p.D1737N	ZNF638_ENST00000409407.1_Missense_Mutation_p.D677N|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1737N|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1737					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.D1737N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGTTACTGTAGATGAAATACA	0.383																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5209-5211)GAT>AAT		zinc finger protein 638							111.0	115.0	114.0					2																	71654208		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654208G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5209G>A	2.37:g.71654208G>A	ENSP00000386433:p.Asp1737Asn					ZNF638_uc002shy.2_Missense_Mutation_p.D1737N|ZNF638_uc002shz.2_Missense_Mutation_p.D1737N|ZNF638_uc002sia.2_Missense_Mutation_p.D1737N|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.D834N|ZNF638_uc002sid.2_Missense_Mutation_p.D106N	p.D1737N	NM_014497	NP_055312	Q14966	ZN638_HUMAN			24	5528	+			1737					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5209G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057478	0.93846	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.61627	0.09;0.09;0.43	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000033	T	0.65217	0.2670	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64368	-0.6424	10	0.41790	T	0.15	-5.0216	17.6572	0.88181	0.0:0.0:1.0:0.0	.	1737;1737	Q14966-3;Q14966	.;ZN638_HUMAN	N	1737;1737;677	ENSP00000264447:D1737N;ENSP00000386433:D1737N;ENSP00000386813:D677N	ENSP00000264447:D1737N	D	+	1	0	ZNF638	71507716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.176000	0.77643	2.773000	0.95371	0.655000	0.94253	GAT		PASS	0.383	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		24	64	24	64	---	---	---	---
CYP26B1	56603	broad.mit.edu	37	2	72361913	72361913	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:72361913C>T	ENST00000001146.2	-	4	1041	c.838G>A	c.(838-840)Gag>Aag	p.E280K	CYP26B1_ENST00000412253.1_Missense_Mutation_p.E89K|CYP26B1_ENST00000546307.1_Missense_Mutation_p.E205K	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	280					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.E280K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ATGGTCATCTCCTTCCCGTGC	0.617																																						uc002sih.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(838-840)GAG>AAG		cytochrome P450, family 26, subfamily b,							122.0	99.0	107.0					2																	72361913		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72361913C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.838G>A	2.37:g.72361913C>T	ENSP00000001146:p.Glu280Lys					CYP26B1_uc010yra.1_Missense_Mutation_p.E263K|CYP26B1_uc010yrb.1_Missense_Mutation_p.E205K	p.E280K	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	838	-			280					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.838G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555727	0.96514	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.66995	-0.24;-0.24;-0.24	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	L	0.41824	1.3	0.80722	D	1	B;B;B	0.29188	0.236;0.115;0.115	B;B;B	0.37989	0.262;0.173;0.173	T	0.54583	-0.8272	10	0.06236	T	0.91	-10.6665	17.4689	0.87640	0.0:1.0:0.0:0.0	.	205;263;280	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	K	280;89;205	ENSP00000001146:E280K;ENSP00000401465:E89K;ENSP00000443304:E205K	ENSP00000001146:E280K	E	-	1	0	CYP26B1	72215421	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.539000	0.85634	0.591000	0.81541	GAG		PASS	0.617	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		15	27	15	27	---	---	---	---
EMX1	2016	broad.mit.edu	37	2	73160999	73160999	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:73160999G>A	ENST00000258106.6	+	3	1167	c.789G>A	c.(787-789)aaG>aaA	p.K263K	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	230					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K263K(1)		cervix(1)|large_intestine(2)|lung(3)	6						AGCAGAAGAAGAAGGGCTCCC	0.582																																						uc002sin.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)AAG>AAA		empty spiracles homolog 1							72.0	83.0	79.0					2																	73160999		2123	4243	6366	SO:0001819	synonymous_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73160999G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.789G>A	2.37:g.73160999G>A						EMX1_uc002sim.1_3'UTR	p.K263K	NM_004097	NP_004088	Q04741	EMX1_HUMAN			3	1167	+			230					Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	c.789G>A	CCDS1921.2																																																																																				PASS	0.582	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			10	24	10	24	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73800511	73800511	+	Missense_Mutation	SNP	C	C	T	rs370100719		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:73800511C>T	ENST00000264448.6	+	16	11615	c.11504C>T	c.(11503-11505)cCc>cTc	p.P3835L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P3793L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3835					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.P3835L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGGTCATCCCCTAGTGACT	0.458																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11509-11511)CCC>CTC		Alstrom syndrome 1							75.0	75.0	75.0					2																	73800511		1992	4184	6176	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73800511C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11504C>T	2.37:g.73800511C>T	ENSP00000264448:p.Pro3835Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.P3793L|ALMS1_uc002sjg.2_Missense_Mutation_p.P3223L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3223L	p.P3837L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	11621	+			3835					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11510C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307441	0.40795	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.09163	3.01;3.01	5.52	4.26	0.50523	.	0.307488	0.23926	N	0.043186	T	0.17238	0.0414	L	0.46157	1.445	0.20403	N	0.999905	P;P;D	0.53462	0.932;0.952;0.96	P;P;P	0.53146	0.719;0.716;0.693	T	0.03630	-1.1018	10	0.66056	D	0.02	.	9.4211	0.38553	0.0:0.8765:0.0:0.1235	.	3835;3793;3835	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	3793;3835	ENSP00000386627:P3793L;ENSP00000264448:P3835L	ENSP00000264448:P3835L	P	+	2	0	ALMS1	73654019	0.016000	0.18221	0.908000	0.35775	0.333000	0.28666	2.016000	0.40971	1.152000	0.42452	0.655000	0.94253	CCC		PASS	0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		10	32	10	32	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043295	74043295	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:74043295G>A	ENST00000409561.1	+	3	2066	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	649								p.G619R(1)|p.G649R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TATGAAAACTGGATTCTCTTC	0.502																																						uc002sjr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1945-1947)GGA>AGA		hypothetical protein LOC388960							52.0	53.0	53.0					2																	74043295		1874	4100	5974	SO:0001583	missense	388960							g.chr2:74043295G>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1945G>A	2.37:g.74043295G>A	ENSP00000387124:p.Gly649Arg						p.G649R	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	2066	+			649						Missense_Mutation	SNP	ENST00000409561.1	37	c.1945G>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	7.430	0.638464	0.14386	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.53423	0.62	5.13	3.74	0.42951	.	0.273580	0.25671	N	0.029068	T	0.39226	0.1070	L	0.55990	1.75	0.09310	N	1	B	0.32382	0.368	B	0.28553	0.091	T	0.37033	-0.9723	10	0.62326	D	0.03	-6.8345	8.1089	0.30903	0.1628:0.0:0.8372:0.0	.	649	A6NCI8	CB078_HUMAN	R	649;619	ENSP00000387124:G649R	ENSP00000340692:G619R	G	+	1	0	C2orf78	73896803	0.037000	0.19845	0.003000	0.11579	0.008000	0.06430	1.068000	0.30629	0.836000	0.34901	0.563000	0.77884	GGA		PASS	0.502	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		21	69	21	69	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74480165	74480165	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:74480165G>A	ENST00000377634.4	-	15	1603	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P402S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P338S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P402S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P338S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P402S|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P402S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P402S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.P402S(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATTCTCCAGGAGGAAGGACG	0.527																																						uc002sko.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1204-1206)CCT>TCT		sodium bicarbonate transporter 4 isoform a							69.0	66.0	67.0					2																	74480165		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74480165G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1204C>T	2.37:g.74480165G>A	ENSP00000366861:p.Pro402Ser					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P402S|SLC4A5_uc010ffc.1_Missense_Mutation_p.P402S|SLC4A5_uc002skp.1_Missense_Mutation_p.P338S|SLC4A5_uc002sks.1_Missense_Mutation_p.P402S	p.P402S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			10	1206	-			402			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.1204C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819378	0.90873	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.4	5.4	0.78164	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	H	0.96691	3.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.995;1.0;0.999	D	0.98402	1.0568	10	0.87932	D	0	.	16.7038	0.85366	0.0:0.0:1.0:0.0	.	402;402;338;402;402	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	402;402;402;338;402;338;402;402;402;402	ENSP00000377587:P402S;ENSP00000251768:P402S;ENSP00000352461:P338S;ENSP00000395804:P402S;ENSP00000351513:P338S;ENSP00000350475:P402S;ENSP00000366859:P402S;ENSP00000366861:P402S;ENSP00000405678:P402S	ENSP00000251768:P402S	P	-	1	0	SLC4A5	74333673	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	CCT		PASS	0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			19	17	19	17	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74688726	74688727	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:74688726_74688727GG>AT	ENST00000233616.4	-	4	2351_2352	c.2189_2190CC>AT	c.(2188-2190)tCC>tAT	p.S730Y	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000452063.2_Missense_Mutation_p.S624Y|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	730					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.S730Y(2)|p.S730S(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGCTGCAAGGGAGCGTAAACC	0.604																																						uc010ffj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(2188-2190)TCC>TCT|c.(2188-2190)TCC>TAC		mannosyl-oligosaccharide glucosidase isoform 1																																				SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74688726G>A|g.chr2:74688727G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2189_2190delinsAT	2.37:g.74688726_74688727delinsAT	ENSP00000233616:p.Ser730Tyr					MOGS_uc010ffh.2_Silent_p.S455S|MOGS_uc010yrt.1_Silent_p.S611S|MOGS_uc010ffi.2_Silent_p.S624S|MOGS_uc010ffh.2_Missense_Mutation_p.S455Y|MOGS_uc010yrt.1_Missense_Mutation_p.S611Y|MOGS_uc010ffi.2_Missense_Mutation_p.S624Y	p.S730S|p.S730Y	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	2353|2352	-			730			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent|Missense_Mutation	SNP	ENST00000233616.4	37	c.2190C>T|c.2189C>A	CCDS42700.1																																																																																				PASS	0.604	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		19|20	37	19	37	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74789505	74789505	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:74789505C>T	ENST00000290536.5	-	8	1236	c.1120G>A	c.(1120-1122)Gga>Aga	p.G374R	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G374R|M1AP_ENST00000409585.1_Missense_Mutation_p.G374R|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	374					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G374R(1)									TGGCTGTGTCCTGGGCCCGGT	0.527																																						uc002smy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1120-1122)GGA>AGA		hypothetical protein LOC130951							189.0	154.0	166.0					2																	74789505		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74789505C>T		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1120G>A	2.37:g.74789505C>T	ENSP00000290536:p.Gly374Arg					C2orf65_uc010ysa.1_Missense_Mutation_p.G374R|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.G130R	p.G374R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			8	1237	-			374					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1120G>A	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	1.821	-0.472201	0.04445	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.39229	1.09;1.09;1.09	5.41	1.12	0.20585	.	0.807415	0.11221	N	0.586647	T	0.26412	0.0645	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.28964	-1.0027	10	0.14656	T	0.56	-7.0386	7.369	0.26790	0.0:0.5708:0.0:0.4292	.	374;374;130	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	R	374	ENSP00000290536:G374R;ENSP00000386793:G374R;ENSP00000445662:G374R	ENSP00000290536:G374R	G	-	1	0	C2orf65	74643013	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.098000	0.15189	-0.081000	0.12662	-0.736000	0.03550	GGA		PASS	0.527	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		23	39	23	39	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75104379	75104379	+	Missense_Mutation	SNP	G	G	T	rs36066402	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:75104379G>T	ENST00000290573.2	+	8	1562	c.962G>T	c.(961-963)gGg>gTg	p.G321V	HK2_ENST00000409174.1_Missense_Mutation_p.G293V	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	321	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.G321V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTGCTCTTTGGGGGGAAGCTC	0.547																																						uc002snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(961-963)GGG>GTG		hexokinase 2							184.0	187.0	186.0					2																	75104379		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75104379G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.962G>T	2.37:g.75104379G>T	ENSP00000290573:p.Gly321Val						p.G321V	NM_000189	NP_000180	P52789	HXK2_HUMAN			8	2888	+			321			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.962G>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027475	0.35797	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96365	-3.99;-3.99	5.07	4.14	0.48551	Hexokinase, C-terminal (1);	0.481200	0.24523	N	0.037792	D	0.95506	0.8540	L	0.58583	1.82	0.53688	D	0.999977	B	0.23490	0.086	B	0.43018	0.405	D	0.92534	0.6036	10	0.44086	T	0.13	-13.6478	5.342	0.15988	0.2837:0.0:0.7163:0.0	.	321	P52789	HXK2_HUMAN	V	321;321;293	ENSP00000290573:G321V;ENSP00000387140:G293V	ENSP00000290573:G321V	G	+	2	0	HK2	74957887	0.081000	0.21417	0.537000	0.28052	0.977000	0.68977	1.924000	0.40065	1.368000	0.46115	0.655000	0.94253	GGG		PASS	0.547	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		6	165	6	165	---	---	---	---
GCFC2	6936	broad.mit.edu	37	2	75933713	75933713	+	Silent	SNP	C	C	T	rs529991040		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:75933713C>T	ENST00000321027.3	-	2	463	c.330G>A	c.(328-330)aaG>aaA	p.K110K	GCFC2_ENST00000470503.1_Silent_p.K110K|GCFC2_ENST00000541687.1_Silent_p.K110K|GCFC2_ENST00000409857.3_Silent_p.K110K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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.K110K(1)									CCTGATCATCCTTACTTTCTG	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		18087	0.001		0.0	False		,,,				2504	0.0					uc002sno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(328-330)AAG>AAA		hypothetical protein LOC6936							115.0	110.0	112.0					2																	75933713		2203	4300	6503	SO:0001819	synonymous_variant	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75933713C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.330G>A	2.37:g.75933713C>T						C2orf3_uc002snn.2_5'UTR|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Silent_p.K110K	p.K110K	NM_003203	NP_003194	P16383	GCF_HUMAN			2	460	-			110					A4UHQ8|O95032|Q53TY0|Q6P2F2	Silent	SNP	ENST00000321027.3	37	c.330G>A	CCDS1961.1																																																																																				PASS	0.338	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		16	45	16	45	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79313613	79313613	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:79313613C>T	ENST00000305089.3	-	4	281	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	67	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.M67I(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCCTGAATTCATGTTCTGGC	0.498																																						uc002sny.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(199-201)ATG>ATA		regenerating islet-derived 1 beta precursor							118.0	110.0	113.0					2																	79313613		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313613C>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.201G>A	2.37:g.79313613C>T	ENSP00000303206:p.Met67Ile					REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.2_3'UTR	p.M67I	NM_006507	NP_006498	P48304	REG1B_HUMAN			4	313	-			67			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.201G>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	13.28	2.191377	0.38707	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.07800	3.16;3.16	3.51	0.355	0.16069	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.196337	0.24876	N	0.034897	T	0.04952	0.0133	L	0.35487	1.065	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.005	T	0.37314	-0.9711	10	0.23302	T	0.38	.	3.3409	0.07118	0.0:0.5171:0.221:0.2619	.	67;67	Q6ICS1;P48304	.;REG1B_HUMAN	I	18;67	ENSP00000387410:M18I;ENSP00000303206:M67I	ENSP00000303206:M67I	M	-	3	0	REG1B	79167121	0.000000	0.05858	0.017000	0.16124	0.977000	0.68977	-0.215000	0.09279	0.295000	0.22570	0.491000	0.48974	ATG		PASS	0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		31	57	31	57	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79348738	79348738	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:79348738G>A	ENST00000233735.1	+	3	218	c.115G>A	c.(115-117)Ggc>Agc	p.G39S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	39	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.G39S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTGCCCAGAAGGCACCAATGC	0.532																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GGC>AGC		regenerating islet-derived 1 alpha precursor							178.0	180.0	179.0					2																	79348738		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348738G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.115G>A	2.37:g.79348738G>A	ENSP00000233735:p.Gly39Ser					REG1A_uc010ffx.1_Missense_Mutation_p.G39S|REG1A_uc010ysd.1_Missense_Mutation_p.G39S	p.G39S	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	218	+			39			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.115G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.560431	0.86335	.	.	ENSG00000115386	ENST00000233735	T	0.11821	2.74	2.85	2.85	0.33270	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.39687	N	0.001281	T	0.42063	0.1186	M	0.92833	3.35	0.19575	N	0.999963	D;D	0.89917	1.0;0.999	D;D	0.83275	0.96;0.996	T	0.22626	-1.0211	10	0.66056	D	0.02	.	9.368	0.38237	0.0:0.0:1.0:0.0	.	39;39	A8K7G6;P05451	.;REG1A_HUMAN	S	39	ENSP00000233735:G39S	ENSP00000233735:G39S	G	+	1	0	REG1A	79202246	0.942000	0.31987	0.260000	0.24451	0.819000	0.46315	3.695000	0.54749	1.892000	0.54788	0.563000	0.77884	GGC		PASS	0.532	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		83	117	83	117	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349168	79349168	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:79349168G>A	ENST00000233735.1	+	4	341	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	80	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.E80K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CACCCAGGCCGAGGGTGCCTT	0.522																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GAG>AAG		regenerating islet-derived 1 alpha precursor							140.0	127.0	131.0					2																	79349168		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349168G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.238G>A	2.37:g.79349168G>A	ENSP00000233735:p.Glu80Lys					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.E80K	p.E80K	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	341	+			80			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.238G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.111041	0.56398	.	.	ENSG00000115386	ENST00000233735	T	0.15603	2.41	3.51	3.51	0.40186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37623	N	0.002004	T	0.42245	0.1194	M	0.90870	3.155	0.29618	N	0.846409	D	0.64830	0.994	P	0.58660	0.843	T	0.50849	-0.8779	10	0.87932	D	0	.	10.7109	0.45982	0.0:0.0:1.0:0.0	.	80	P05451	REG1A_HUMAN	K	80	ENSP00000233735:E80K	ENSP00000233735:E80K	E	+	1	0	REG1A	79202676	0.909000	0.30893	0.145000	0.22337	0.617000	0.37484	3.721000	0.54941	1.956000	0.56807	0.563000	0.77884	GAG		PASS	0.522	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		38	45	38	45	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80096945	80096945	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:80096945G>A	ENST00000402739.4	+	4	474	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CTNNA2_ENST00000541047.1_Missense_Mutation_p.E157K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E157K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E157K|CTNNA2_ENST00000466387.1_Missense_Mutation_p.E157K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E191K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	157					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E157K(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTGCAGGTGGAAGAGGCCCT	0.358																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(469-471)GAA>AAA		catenin, alpha 2 isoform 1							82.0	78.0	79.0					2																	80096945		1825	4092	5917	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80096945G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.469G>A	2.37:g.80096945G>A	ENSP00000384638:p.Glu157Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.E157K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E157K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E157K	p.E157K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	474	+			157					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.469G>A		.	.	.	.	.	.	.	.	.	.	G	20.0	3.930047	0.73327	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.58969	1.84	0.80722	D	1	B;B;B	0.31435	0.242;0.323;0.323	B;B;B	0.33799	0.121;0.17;0.074	T	0.18147	-1.0346	10	0.11485	T	0.65	.	19.9827	0.97334	0.0:0.0:1.0:0.0	.	157;157;157	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	K	157;157;191;157;157;157	ENSP00000418191:E157K;ENSP00000419295:E157K;ENSP00000355398:E191K;ENSP00000384638:E157K;ENSP00000444675:E157K;ENSP00000441705:E157K	ENSP00000355398:E191K	E	+	1	0	CTNNA2	79950453	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.453000	0.97619	2.728000	0.93425	0.655000	0.94253	GAA		PASS	0.358	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		16	47	16	47	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80846328	80846328	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:80846328G>A	ENST00000402739.4	+	17	2554	c.2549G>A	c.(2548-2550)gGg>gAg	p.G850E	CTNNA2_ENST00000541047.1_Intron|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000361291.4_Intron|AC008067.2_ENST00000609950.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	850					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCCGATCGGGAGTGGAAGC	0.453																																						uc010ysh.1																			0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2548-2550)GGG>GAG		catenin, alpha 2 isoform 1							20.0	17.0	18.0					2																	80846328		875	1990	2865	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80846328G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2549G>A	2.37:g.80846328G>A	ENSP00000384638:p.Gly850Glu					CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Intron|CTNNA2_uc010ysj.1_Intron	p.G850E	NM_004389	NP_004380	P26232	CTNA2_HUMAN			17	2554	+			850					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2549G>A		.	.	.	.	.	.	.	.	.	.	G	12.18	1.859467	0.32884	.	.	ENSG00000066032	ENST00000402739	T	0.36878	1.23	5.73	5.73	0.89815	.	.	.	.	.	T	0.23014	0.0556	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09552	-1.0669	7	.	.	.	.	9.5734	0.39442	0.0807:0.1458:0.7735:0.0	.	850	P26232	CTNA2_HUMAN	E	850	ENSP00000384638:G850E	.	G	+	2	0	CTNNA2	80699839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.455000	0.52993	2.688000	0.91661	0.650000	0.86243	GGG		PASS	0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		6	12	6	12	---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85598247	85598247	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:85598247C>A	ENST00000409890.2	+	9	1066	c.399C>A	c.(397-399)gcC>gcA	p.A133A	ELMOD3_ENST00000393852.4_Silent_p.A133A|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000409013.3_Silent_p.A133A|ELMOD3_ENST00000428955.2_Silent_p.A133A|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.A133A|ELMOD3_ENST00000315658.7_Silent_p.A133A			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	133					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A133A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CTGGGCTCGCCGCCCTCCGAC	0.542																																						uc002spf.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(397-399)GCC>GCA		ELMO/CED-12 domain containing 3 isoform b							96.0	99.0	98.0					2																	85598247		2203	4300	6503	SO:0001819	synonymous_variant	84173				phagocytosis	cytoskeleton		g.chr2:85598247C>A	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.399C>A	2.37:g.85598247C>A						ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.A133A|ELMOD3_uc002sph.3_Silent_p.A133A|ELMOD3_uc010ysn.1_Silent_p.A133A|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	p.A133A	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			10	1064	+			133					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Silent	SNP	ENST00000409890.2	37	c.399C>A	CCDS46352.1																																																																																				PASS	0.542	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		4	102	4	102	---	---	---	---
MAT2A	4144	broad.mit.edu	37	2	85769398	85769398	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:85769398G>A	ENST00000306434.3	+	6	793	c.670G>A	c.(670-672)Gag>Aag	p.E224K	MAT2A_ENST00000409017.1_Missense_Mutation_p.E161K	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	224					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.E224K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCCCTAAAGGAGAAAGTCAT	0.458																																						uc002spr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)GAG>AAG		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						117.0	105.0	109.0					2																	85769398		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769398G>A		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.670G>A	2.37:g.85769398G>A	ENSP00000303147:p.Glu224Lys					MAT2A_uc010ysr.1_Missense_Mutation_p.E224K|MAT2A_uc010fgk.2_Missense_Mutation_p.E198K|MAT2A_uc010fgl.2_Missense_Mutation_p.E161K|MAT2A_uc010fgm.1_3'UTR	p.E224K	NM_005911	NP_005902	P31153	METK2_HUMAN			6	793	+			224					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.670G>A	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472321	0.63737	.	.	ENSG00000168906	ENST00000306434;ENST00000409017	D;D	0.83914	-1.78;-1.78	5.86	5.86	0.93980	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.094688	0.64402	D	0.000001	T	0.81039	0.4740	L	0.48174	1.505	0.80722	D	1	B;B	0.15719	0.006;0.014	B;B	0.26517	0.044;0.07	T	0.74979	-0.3479	10	0.41790	T	0.15	-19.369	17.687	0.88258	0.0:0.0:1.0:0.0	.	224;224	B4DEX8;P31153	.;METK2_HUMAN	K	224;161	ENSP00000303147:E224K;ENSP00000386353:E161K	ENSP00000303147:E224K	E	+	1	0	MAT2A	85622909	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.415000	0.97375	2.771000	0.95319	0.563000	0.77884	GAG		PASS	0.458	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		21	43	21	43	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86258525	86258525	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:86258525G>A	ENST00000263857.6	-	30	4884	c.4506C>T	c.(4504-4506)gtC>gtT	p.V1502V	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1502					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.V1502V(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCACAGCCTGGACCCGGCGCT	0.677																																						uc002sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(4504-4506)GTC>GTT		DNA-directed RNA polymerase I A							109.0	117.0	114.0					2																	86258525		2032	4174	6206	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258525G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4506C>T	2.37:g.86258525G>A						POLR1A_uc010ytb.1_Silent_p.V868V	p.V1502V	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4885	-			1502					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.4506C>T	CCDS42706.1																																																																																				PASS	0.677	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		37	48	37	48	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86258607	86258607	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:86258607G>A	ENST00000263857.6	-	30	4802	c.4424C>T	c.(4423-4425)tCc>tTc	p.S1475F	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1475					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.S1475F(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGCGGGAAGGGACGGGTCCTC	0.642																																						uc002sqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4423-4425)TCC>TTC		DNA-directed RNA polymerase I A							161.0	170.0	167.0					2																	86258607		2068	4173	6241	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258607G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4424C>T	2.37:g.86258607G>A	ENSP00000263857:p.Ser1475Phe					POLR1A_uc010ytb.1_Missense_Mutation_p.S841F	p.S1475F	NM_015425	NP_056240	O95602	RPA1_HUMAN			30	4803	-			1475					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4424C>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349196	0.24426	.	.	ENSG00000068654	ENST00000263857	T	0.68479	-0.33	2.91	-1.09	0.09904	RNA polymerase Rpb1, domain 5 (1);	4.537550	0.00659	N	0.000590	T	0.43722	0.1260	N	0.05487	-0.04	0.09310	N	1	B	0.17852	0.024	B	0.18561	0.022	T	0.33879	-0.9851	10	0.56958	D	0.05	2.1452	0.8351	0.01138	0.1658:0.2294:0.3725:0.2323	.	1475	O95602	RPA1_HUMAN	F	1475	ENSP00000263857:S1475F	ENSP00000263857:S1475F	S	-	2	0	POLR1A	86112118	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.134000	0.10436	-0.100000	0.12241	0.555000	0.69702	TCC		PASS	0.642	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		26	42	26	42	---	---	---	---
REEP1	65055	broad.mit.edu	37	2	86459855	86459856	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:86459855_86459856CC>TT	ENST00000165698.5	-	6	630_631	c.487_488GG>AA	c.(487-489)GGc>AAc	p.G163N	REEP1_ENST00000535845.1_Missense_Mutation_p.G136N|REEP1_ENST00000541910.1_Missense_Mutation_p.A85T|REEP1_ENST00000473407.1_Intron|REEP1_ENST00000538924.1_Missense_Mutation_p.G170N|REEP1_ENST00000540790.1_Missense_Mutation_p.G142N	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	163					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)	p.G163S(2)|p.G163N(1)|p.G163D(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGCAGGGGCGCCGTCTCCCCTG	0.658																																						uc002srh.3																			4	Substitution - Missense(4)		lung(3)|upper_aerodigestive_tract(1)		0						c.(487-489)GGC>GAC|c.(487-489)GGC>AGC		receptor accessory protein 1 isoform 2																																				SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459855C>T|g.chr2:86459856C>T	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.487_488delinsTT	2.37:g.86459855_86459856delinsTT	ENSP00000165698:p.Gly163Asn					REEP1_uc010ytg.1_Missense_Mutation_p.G142D|REEP1_uc010yth.1_Missense_Mutation_p.G136D|REEP1_uc010yti.1_Missense_Mutation_p.A85T|REEP1_uc010ytg.1_Missense_Mutation_p.G142S|REEP1_uc010yth.1_Missense_Mutation_p.G136S|REEP1_uc010yti.1_Silent_p.T84T	p.G163D|p.G163S	NM_022912	NP_075063	Q9H902	REEP1_HUMAN			6	632|631	-			163					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.488G>A|c.487G>A	CCDS1989.1																																																																																				PASS	0.658	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		5|7	27|26	5	26	---	---	---	---
RNF103	7844	broad.mit.edu	37	2	86831609	86831609	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:86831609G>A	ENST00000237455.4	-	4	2383	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'Flank	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	472					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S472F(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTCTGAAAAGAAGCAATCGG	0.458																																						uc002srn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1414-1416)TCT>TTT		ring finger protein 103							77.0	76.0	77.0					2																	86831609		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831609G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1415C>T	2.37:g.86831609G>A	ENSP00000237455:p.Ser472Phe					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.S333F|uc002sro.2_Intron	p.S472F	NM_005667	NP_005658	O00237	RN103_HUMAN			4	2384	-			472					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1415C>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658399	0.67586	.	.	ENSG00000239305	ENST00000237455	T	0.50813	0.73	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.70536	-0.4845	10	0.87932	D	0	-15.0892	19.1256	0.93382	0.0:0.0:1.0:0.0	.	472	O00237	RN103_HUMAN	F	472	ENSP00000237455:S472F	ENSP00000237455:S472F	S	-	2	0	RNF103	86685120	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.575000	0.82447	2.525000	0.85131	0.460000	0.39030	TCT		PASS	0.458	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		23	39	23	39	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87042750	87042750	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:87042750G>A	ENST00000349455.3	-	5	671	c.622C>T	c.(622-624)Cca>Tca	p.P208S	CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000331469.2_Missense_Mutation_p.P238S|CD8B_ENST00000393761.2_Silent_p.T195T	NM_172102.3	NP_742100.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.P238S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AGGATCCATGGGTTAAGCAGC	0.483																																						uc002srw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(712-714)CCA>TCA		CD8b antigen isoform 2 precursor							440.0	403.0	416.0					2																	87042750		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87042750G>A		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000349455.3:c.622C>T	2.37:g.87042750G>A	ENSP00000340592:p.Pro208Ser					RMND5A_uc002srs.3_Intron|CD8B_uc002srx.2_3'UTR|CD8B_uc002sry.2_Missense_Mutation_p.P208S|CD8B_uc010fgt.2_Silent_p.T195T	p.P238S	NM_172213	NP_757362	P10966	CD8B_HUMAN			6	762	-			Error:Variant_position_missing_in_P10966_after_alignment					P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000349455.3	37	c.712C>T	CCDS1994.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863448	0.32884	.	.	ENSG00000172116	ENST00000349455;ENST00000331469;ENST00000534926	.	.	.	1.77	0.864	0.19068	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	P;P	0.46706	0.883;0.883	B;B	0.35931	0.214;0.08	T	0.16070	-1.0415	7	0.87932	D	0	.	4.3922	0.11346	0.206:0.0:0.794:0.0	.	208;238	P10966-3;P10966-6	.;.	S	208;238;46	.	ENSP00000331172:P238S	P	-	1	0	CD8B	86896261	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.865000	0.27940	0.320000	0.23234	0.555000	0.69702	CCA		PASS	0.483	CD8B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252594.1	NM_172099		98	231	98	231	---	---	---	---
IGKV3D-11	28876	broad.mit.edu	37	2	90212096	90212096	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:90212096C>T	ENST00000390277.2	+	0	285									immunoglobulin kappa variable 3D-11																		CCTGGCCAGGCTCCCAGGCTC	0.592																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							42.0	52.0	49.0					2																	90212096		1838	4086	5924			0							g.chr2:90212096C>T	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212096C>T														26		+									RNA	SNP	ENST00000390277.2	37	c.3520C>T																																																																																					PASS	0.592	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		34	49	34	49	---	---	---	---
MAL	4118	broad.mit.edu	37	2	95713853	95713853	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:95713853G>A	ENST00000309988.4	+	2	352	c.243G>A	c.(241-243)gaG>gaA	p.E81E	MAL_ENST00000353004.3_Silent_p.E81E|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	81	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)	p.E81E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ACGGTGGAGAGACTTCCTGGG	0.602																																						uc002stx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)GAG>GAA		T-lymphocyte maturation-associated protein							90.0	84.0	86.0					2																	95713853		2203	4300	6503	SO:0001819	synonymous_variant	4118				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	g.chr2:95713853G>A		CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.243G>A	2.37:g.95713853G>A						MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.E81E|MAL_uc002sua.1_Intron	p.E81E	NM_002371	NP_002362	P21145	MAL_HUMAN		STAD - Stomach adenocarcinoma(1183;0.18)	2	302	+			81			Cytoplasmic (Potential).|MARVEL.		Q6FH77	Silent	SNP	ENST00000309988.4	37	c.243G>A	CCDS2006.1																																																																																				PASS	0.602	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254982.3	NM_002371		15	28	15	28	---	---	---	---
KCNIP3	30818	broad.mit.edu	37	2	96040136	96040136	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:96040136G>A	ENST00000295225.5	+	3	409	c.274G>A	c.(274-276)Gag>Aag	p.E92K	KCNIP3_ENST00000468529.1_Missense_Mutation_p.E66K|KCNIP3_ENST00000360990.3_Missense_Mutation_p.E92K|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	92	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)	p.E66K(1)|p.E92K(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CACCAAGAAGGAGCTGCAGTC	0.602																																						uc002sup.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)	3						c.(274-276)GAG>AAG		Kv channel interacting protein 3 isoform 1							86.0	84.0	84.0					2																	96040136		2203	4300	6503	SO:0001583	missense	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96040136G>A	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.274G>A	2.37:g.96040136G>A	ENSP00000295225:p.Glu92Lys					KCNIP3_uc002suq.2_Missense_Mutation_p.E66K	p.E92K	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	3	389	+			92			EF-hand 1; degenerate.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Missense_Mutation	SNP	ENST00000295225.5	37	c.274G>A	CCDS2013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.715787	0.96830	.	.	ENSG00000115041	ENST00000295225;ENST00000360990;ENST00000468529	T;D;T	0.82081	1.56;-1.57;1.56	5.23	5.23	0.72850	EF-hand-like domain (1);	0.259851	0.39834	N	0.001255	D	0.93190	0.7831	H	0.97440	4.005	0.80722	D	1	P;P	0.45011	0.848;0.764	P;P	0.54629	0.757;0.577	D	0.95271	0.8377	10	0.87932	D	0	.	16.3003	0.82806	0.0:0.0:1.0:0.0	.	66;92	Q9Y2W7-3;Q9Y2W7	.;CSEN_HUMAN	K	92;92;66	ENSP00000295225:E92K;ENSP00000354261:E92K;ENSP00000417499:E66K	ENSP00000295225:E92K	E	+	1	0	KCNIP3	95403863	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.777000	0.99008	2.440000	0.82611	0.561000	0.74099	GAG		PASS	0.602	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		12	37	12	37	---	---	---	---
GPAT2	150763	broad.mit.edu	37	2	96690582	96690582	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:96690582C>T	ENST00000434632.1	-	15	1826	c.1367G>A	c.(1366-1368)gGg>gAg	p.G456E	GPAT2_ENST00000453542.1_Missense_Mutation_p.G385E|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.G456E|GPAT2_ENST00000377137.3_Missense_Mutation_p.G456E			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	456					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.G456E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CGCAGAGCTCCCTACACTGGC	0.617																																						uc002svf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1366-1368)GGG>GAG		glycerol-3-phosphate acyltransferase 2,							84.0	93.0	90.0					2																	96690582		2046	4177	6223	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690582C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1367G>A	2.37:g.96690582C>T	ENSP00000389395:p.Gly456Glu					GPAT2_uc002svd.2_Missense_Mutation_p.G269E|GPAT2_uc002sve.2_Missense_Mutation_p.G258E|GPAT2_uc002svg.2_Missense_Mutation_p.G329E|GPAT2_uc010yuh.1_Missense_Mutation_p.G385E|GPAT2_uc002svh.2_Missense_Mutation_p.G456E	p.G456E	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			14	1590	-			456			Helical; (Potential).		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1367G>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	c	1.710	-0.499222	0.04291	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.75477	-0.94;-0.94;0.06;-0.94	5.36	4.48	0.54585	.	0.581440	0.18817	N	0.130354	T	0.51568	0.1682	N	0.08118	0	0.20764	N	0.999853	B;B;B;B;B	0.26258	0.145;0.004;0.082;0.066;0.145	B;B;B;B;B	0.23419	0.046;0.001;0.029;0.019;0.031	T	0.29119	-1.0022	10	0.09338	T	0.73	-11.4993	12.1815	0.54214	0.0:0.1746:0.8254:0.0	.	385;456;456;456;385	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	E	456;456;385;456	ENSP00000352547:G456E;ENSP00000389395:G456E;ENSP00000393770:G385E;ENSP00000366341:G456E	ENSP00000352547:G456E	G	-	2	0	GPAT2	96054309	0.008000	0.16893	0.721000	0.30653	0.055000	0.15305	1.568000	0.36418	1.272000	0.44329	-0.166000	0.13349	GGG		PASS	0.617	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		26	63	26	63	---	---	---	---
ARID5A	10865	broad.mit.edu	37	2	97216904	97216904	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:97216904G>A	ENST00000357485.3	+	7	717	c.639G>A	c.(637-639)agG>agA	p.R213R	ARID5A_ENST00000454558.2_Silent_p.R145R	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	213					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R213R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGCCCCCCAGGAACAGCACAG	0.587																																						uc002swe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)AGG>AGA		AT rich interactive domain 5A							60.0	67.0	65.0					2																	97216904		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216904G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.639G>A	2.37:g.97216904G>A						ARID5A_uc010yuq.1_Silent_p.R161R|ARID5A_uc002swf.2_Silent_p.R49R|ARID5A_uc002swg.2_Silent_p.R161R	p.R213R	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	739	+			213					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.639G>A	CCDS33251.1																																																																																				PASS	0.587	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		29	49	29	49	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97505485	97505485	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:97505485G>A	ENST00000318357.4	-	8	842	c.801C>T	c.(799-801)gcC>gcT	p.A267A	ANKRD23_ENST00000418232.1_Silent_p.A267A|ANKRD23_ENST00000331001.2_Silent_p.A225A|ANKRD23_ENST00000476975.1_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	267					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.A267A(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CCCCCAGCTCGGCCCCATAGA	0.672																																						uc002sxa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(799-801)GCC>GCT		diabetes related ankyrin repeat protein							32.0	30.0	30.0					2																	97505485		2203	4300	6503	SO:0001819	synonymous_variant	200539					nucleus		g.chr2:97505485G>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.801C>T	2.37:g.97505485G>A						ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Silent_p.A225A	p.A267A	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN			8	830	-			267			ANK 4.		Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	c.801C>T	CCDS2027.1																																																																																				PASS	0.672	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		9	17	9	17	---	---	---	---
ZAP70	7535	broad.mit.edu	37	2	98340855	98340855	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98340855G>A	ENST00000264972.5	+	3	571	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	119	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R119Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACTGCCTGCGAGACGCCATG	0.716																																						uc002syd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(355-357)CGA>CAA		zeta-chain associated protein kinase 70kDa							5.0	6.0	6.0					2																	98340855		2000	3971	5971	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98340855G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.356G>A	2.37:g.98340855G>A	ENSP00000264972:p.Arg119Gln					ZAP70_uc010yvf.1_Missense_Mutation_p.R119Q|ZAP70_uc002sye.1_5'Flank	p.R119Q	NM_001079	NP_001070	P43403	ZAP70_HUMAN			3	563	+			119			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.356G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776745	0.70107	.	.	ENSG00000115085	ENST00000264972	T	0.25749	1.78	4.82	4.82	0.62117	Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain (1);	0.129982	0.33346	N	0.005007	T	0.28466	0.0704	L	0.43152	1.355	0.80722	D	1	P;D	0.60575	0.67;0.988	B;P	0.45681	0.018;0.49	T	0.05305	-1.0893	10	0.62326	D	0.03	.	15.7542	0.78011	0.0:0.0:1.0:0.0	.	119;119	B4E0E2;P43403	.;ZAP70_HUMAN	Q	119	ENSP00000264972:R119Q	ENSP00000264972:R119Q	R	+	2	0	ZAP70	97707287	1.000000	0.71417	0.997000	0.53966	0.786000	0.44442	4.489000	0.60309	2.406000	0.81754	0.467000	0.42956	CGA		PASS	0.716	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			3	1	3	1	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98411486	98411486	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98411486G>A	ENST00000186436.5	-	29	3521	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1098						integral component of membrane (GO:0016021)		p.S985F(1)|p.S1098F(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						GTAAGGAAGGGATGCATTCAA	0.398																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3292-3294)TCC>TTC		RW1 protein							103.0	99.0	100.0					2																	98411486		1868	4097	5965	SO:0001583	missense	23505					integral to membrane		g.chr2:98411486G>A	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.3293C>T	2.37:g.98411486G>A	ENSP00000186436:p.Ser1098Phe						p.S1098F	NM_015348	NP_056163	Q92545	TM131_HUMAN			29	3522	-			1098			Helical; (Potential).			Missense_Mutation	SNP	ENST00000186436.5	37	c.3293C>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023987	0.93462	.	.	ENSG00000075568	ENST00000186436	T	0.35236	1.32	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.63825	-0.6549	10	0.87932	D	0	-16.2937	20.1115	0.97913	0.0:0.0:1.0:0.0	.	1098	Q92545	TM131_HUMAN	F	1098	ENSP00000186436:S1098F	ENSP00000186436:S1098F	S	-	2	0	TMEM131	97777918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.814000	0.96858	0.655000	0.94253	TCC		PASS	0.398	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		12	31	12	31	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98846523	98846523	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98846523G>A	ENST00000477737.1	+	16	2365	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	721								p.E721K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCATCAAAAGGAAATCTGTTC	0.358																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2161-2163)GAA>AAA		von Willebrand factor A domain containing 3B							88.0	81.0	83.0					2																	98846523		1822	4081	5903	SO:0001583	missense	200403							g.chr2:98846523G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2161G>A	2.37:g.98846523G>A	ENSP00000417955:p.Glu721Lys					VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.E240K|VWA3B_uc002sym.2_Missense_Mutation_p.E721K|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E378K|VWA3B_uc002syp.1_Missense_Mutation_p.E113K|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_Missense_Mutation_p.E38K	p.E721K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			16	2425	+			721					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2161G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.25|13.25	2.182581|2.182581	0.38511|0.38511	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.05649|.	3.41|.	4.29|4.29	3.33|3.33	0.38152|0.38152	.|.	0.575517|.	0.15531|.	N|.	0.257512|.	T|T	0.58395|0.58395	0.2119|0.2119	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	P;B;B;D|.	0.64830|.	0.728;0.255;0.021;0.994|.	B;B;B;D|.	0.63703|.	0.297;0.057;0.009;0.917|.	T|T	0.54708|0.54708	-0.8253|-0.8253	10|5	0.44086|.	T|.	0.13|.	.|.	9.5093|9.5093	0.39067|0.39067	0.0:0.2157:0.7843:0.0|0.0:0.2157:0.7843:0.0	.|.	113;721;721;721|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	K|E	721|131	ENSP00000417955:E721K|.	ENSP00000417955:E721K|.	E|G	+|+	1|2	0|0	VWA3B|VWA3B	98212955|98212955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.529000|2.529000	0.45632|0.45632	2.384000|2.384000	0.81235|0.81235	0.491000|0.491000	0.48974|0.48974	GAA|GGA		PASS	0.358	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		21	33	21	33	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98852942	98852942	+	Splice_Site	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98852942T>G	ENST00000477737.1	+	18	2720		c.e18+2			NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B									p.?(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGACCACGAGTGAGTTCTTTA	0.428																																						uc002syo.2																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.e18+2		von Willebrand factor A domain containing 3B							129.0	134.0	133.0					2																	98852942		1911	4132	6043	SO:0001630	splice_region_variant	200403							g.chr2:98852942T>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2516+2T>G	2.37:g.98852942T>G						VWA3B_uc002syk.1_Splice_Site|VWA3B_uc002syl.1_Splice_Site_p.D358_splice|VWA3B_uc002sym.2_Splice_Site_p.D839_splice|VWA3B_uc002syn.1_Splice_Site|VWA3B_uc010yvi.1_Splice_Site_p.D496_splice|VWA3B_uc002syp.1_Splice_Site_p.D231_splice|VWA3B_uc002syq.1_Splice_Site_p.D115_splice|VWA3B_uc002syr.1_Splice_Site_p.D156_splice|VWA3B_uc010fih.1_5'Flank	p.D839_splice	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			18	2780	+								B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Splice_Site	SNP	ENST00000477737.1	37	c.2516_splice	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	9.150	1.016081	0.19355	.	.	ENSG00000168658	ENST00000477737;ENST00000473149	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3682	0.55240	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3B	98219374	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	2.416000	0.44644	1.965000	0.57142	0.482000	0.46254	.		PASS	0.428	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	Intron	26	56	26	56	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98916627	98916627	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98916627A>G	ENST00000477737.1	+	25	3572	c.3368A>G	c.(3367-3369)aAg>aGg	p.K1123R	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1123								p.K1123R(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTCCCAATAAGCATGTGGCC	0.413																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(3367-3369)AAG>AGG		von Willebrand factor A domain containing 3B							180.0	168.0	172.0					2																	98916627		1883	4117	6000	SO:0001583	missense	200403							g.chr2:98916627A>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3368A>G	2.37:g.98916627A>G	ENSP00000417955:p.Lys1123Arg					VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.K780R|VWA3B_uc002syp.1_Missense_Mutation_p.K515R|VWA3B_uc002syq.1_Missense_Mutation_p.K399R|VWA3B_uc002syr.1_Missense_Mutation_p.K440R|VWA3B_uc002sys.2_RNA	p.K1123R	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			25	3632	+			1123					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3368A>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.830829	0.00584	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.21361	2.01	4.8	-0.272	0.12919	.	2.121460	0.03970	U	0.291462	T	0.10766	0.0263	N	0.11064	0.09	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.28138	-1.0053	10	0.09338	T	0.73	.	7.6036	0.28089	0.5546:0.3602:0.0853:0.0	.	515;1123	Q502W6-5;Q502W6	.;VWA3B_HUMAN	R	1123;245	ENSP00000417955:K1123R	ENSP00000351009:K245R	K	+	2	0	VWA3B	98283059	0.000000	0.05858	0.016000	0.15963	0.003000	0.03518	0.169000	0.16641	0.066000	0.16515	-0.313000	0.08912	AAG		PASS	0.413	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		30	48	30	48	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	98996811	98996811	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:98996811G>A	ENST00000272602.2	+	3	428	c.389G>A	c.(388-390)gGg>gAg	p.G130E	CNGA3_ENST00000409937.1_Missense_Mutation_p.G134E|CNGA3_ENST00000436404.2_Missense_Mutation_p.G130E|CNGA3_ENST00000393504.1_Missense_Mutation_p.G130E			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	130					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G130E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCAGACAGAGGGAGAAGGTAA	0.572																																						uc002syt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(388-390)GGG>GAG		cyclic nucleotide gated channel alpha 3 isoform							58.0	56.0	56.0					2																	98996811		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98996811G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.389G>A	2.37:g.98996811G>A	ENSP00000272602:p.Gly130Glu					CNGA3_uc002syu.2_Missense_Mutation_p.G130E|CNGA3_uc010fij.2_Missense_Mutation_p.G134E	p.G130E	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			4	806	+			130					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.389G>A	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	4.861	0.160137	0.09287	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97303	-4.24;-4.2;-4.24;-4.33	5.44	1.25	0.21368	.	0.790753	0.11861	N	0.522341	D	0.91408	0.7289	L	0.39245	1.2	0.26215	N	0.97925	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.79388	-0.1824	10	0.02654	T	1	.	3.4326	0.07434	0.4295:0.0:0.3902:0.1802	.	134;130;130	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	E	130;130;130;134	ENSP00000377140:G130E;ENSP00000410070:G130E;ENSP00000272602:G130E;ENSP00000386761:G134E	ENSP00000272602:G130E	G	+	2	0	CNGA3	98363243	0.823000	0.29233	0.811000	0.32455	0.193000	0.23685	0.146000	0.16180	0.362000	0.24319	0.655000	0.94253	GGG		PASS	0.572	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		8	12	8	12	---	---	---	---
MGAT4A	11320	broad.mit.edu	37	2	99251711	99251711	+	Missense_Mutation	SNP	C	C	T	rs182193794		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:99251711C>T	ENST00000264968.3	-	13	1805	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	MGAT4A_ENST00000393487.1_Missense_Mutation_p.R481Q|MGAT4A_ENST00000414521.2_Missense_Mutation_p.R353Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.R481Q			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	481					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R481Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						ATCTTCTAATCGTTTGTCTTT	0.274													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.0					uc002sze.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1441-1443)CGA>CAA		alpha-1,3-mannosyl-glycoprotein							148.0	140.0	142.0					2																	99251711		2198	4300	6498	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99251711C>T	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1442G>A	2.37:g.99251711C>T	ENSP00000264968:p.Arg481Gln					C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.R353Q|MGAT4A_uc010fil.2_Missense_Mutation_p.R235Q	p.R481Q	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN			14	1756	-			481			Lumenal (Potential).		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.1442G>A	CCDS2036.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.35	2.507881	0.44558	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.23950	1.88;1.9;1.88;1.88	5.47	1.58	0.23477	.	0.123230	0.56097	D	0.000032	T	0.09379	0.0231	N	0.04508	-0.205	0.41730	D	0.989551	B;B	0.16802	0.019;0.002	B;B	0.08055	0.003;0.002	T	0.19943	-1.0290	10	0.16420	T	0.52	-2.4597	7.3017	0.26424	0.121:0.6742:0.0:0.2048	.	353;481	E9PEN2;Q9UM21	.;MGT4A_HUMAN	Q	481;353;481;481	ENSP00000377127:R481Q;ENSP00000404889:R353Q;ENSP00000264968:R481Q;ENSP00000386841:R481Q	ENSP00000264968:R481Q	R	-	2	0	MGAT4A	98618143	0.994000	0.37717	0.998000	0.56505	0.932000	0.56968	0.751000	0.26348	0.360000	0.24265	-0.136000	0.14681	CGA		PASS	0.274	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		13	22	13	22	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100055666	100055666	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:100055666C>T	ENST00000258428.3	-	6	838	c.610G>A	c.(610-612)Gag>Aag	p.E204K	REV1_ENST00000393445.3_Missense_Mutation_p.E204K|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	204					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.E204K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGGTCTGCTCCAGATCCACA	0.413								Direct reversal of damage																														uc002tad.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(610-612)GAG>AAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							88.0	83.0	85.0					2																	100055666		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100055666C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.610G>A	2.37:g.100055666C>T	ENSP00000258428:p.Glu204Lys					REV1_uc002tac.2_Missense_Mutation_p.E204K|REV1_uc002tae.1_Missense_Mutation_p.E183K	p.E204K	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			6	822	-			204					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.610G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835839	0.50951	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.30981	1.51;1.51	5.39	5.39	0.77823	.	0.321554	0.34314	N	0.004080	T	0.37461	0.1004	M	0.66939	2.045	0.44055	D	0.99679	P;P;P	0.43352	0.804;0.682;0.688	B;B;B	0.42386	0.386;0.156;0.299	T	0.14364	-1.0475	10	0.16420	T	0.52	.	19.1719	0.93581	0.0:1.0:0.0:0.0	.	183;204;204	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	K	204	ENSP00000377091:E204K;ENSP00000258428:E204K	ENSP00000258428:E204K	E	-	1	0	REV1	99422098	1.000000	0.71417	0.950000	0.38849	0.563000	0.35712	5.359000	0.66074	2.534000	0.85438	0.655000	0.94253	GAG		PASS	0.413	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		14	34	14	34	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100623893	100623893	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:100623893C>T	ENST00000409236.2	-	4	316	c.204G>A	c.(202-204)cgG>cgA	p.R68R	AFF3_ENST00000356421.2_Silent_p.R93R|AFF3_ENST00000317233.4_Silent_p.R68R|AFF3_ENST00000409579.1_Silent_p.R93R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	68					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R93R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTCTGGATCCGGTTGGAGA	0.433																																						uc002tag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(202-204)CGG>CGA		AF4/FMR2 family, member 3 isoform 1							90.0	94.0	93.0					2																	100623893		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623893C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.204G>A	2.37:g.100623893C>T						AFF3_uc002taf.2_Silent_p.R93R|AFF3_uc010fiq.1_Silent_p.R68R|AFF3_uc010yvr.1_Silent_p.R222R|AFF3_uc002tah.1_Silent_p.R93R|AFF3_uc010fir.1_Silent_p.R145R|AFF3_uc002tai.2_5'UTR	p.R68R	NM_002285	NP_002276	P51826	AFF3_HUMAN			5	440	-			68					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.204G>A	CCDS42723.1																																																																																				PASS	0.433	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		31	56	31	56	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103128667	103128667	+	Missense_Mutation	SNP	G	G	A	rs374041431		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:103128667G>A	ENST00000295269.4	+	7	1951	c.1494G>A	c.(1492-1494)atG>atA	p.M498I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	498					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.M498I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCAGCTGATGGATCACTTAA	0.448																																						uc002tbz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1492-1494)ATG>ATA		solute carrier family 9 (sodium/hydrogen							166.0	169.0	168.0					2																	103128667		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103128667G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1494G>A	2.37:g.103128667G>A	ENSP00000295269:p.Met498Ile						p.M498I	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			7	1951	+			498			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1494G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760614	0.89932	.	.	ENSG00000180251	ENST00000295269	T	0.42513	0.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.41328	0.1154	L	0.54908	1.71	0.80722	D	1	B	0.24721	0.11	B	0.18871	0.023	T	0.23084	-1.0198	10	0.17369	T	0.5	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	498	Q6AI14	SL9A4_HUMAN	I	498	ENSP00000295269:M498I	ENSP00000295269:M498I	M	+	3	0	SLC9A4	102495099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.785000	0.95823	0.655000	0.94253	ATG		PASS	0.448	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		29	57	29	57	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103322321	103322321	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:103322321C>T	ENST00000233969.2	+	11	2136	c.1994C>T	c.(1993-1995)tCc>tTc	p.S665F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	665					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S665F(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACTTCAACCTCCCGATATTTA	0.308																																						uc002tca.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1993-1995)TCC>TTC		solute carrier family 9 (sodium/hydrogen							47.0	52.0	50.0					2																	103322321		2198	4298	6496	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103322321C>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1994C>T	2.37:g.103322321C>T	ENSP00000233969:p.Ser665Phe						p.S665F	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			11	2136	+			665			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1994C>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849555	0.17034	.	.	ENSG00000115616	ENST00000233969	T	0.56611	0.45	6.06	6.06	0.98353	.	0.363184	0.30762	N	0.008924	T	0.39759	0.1090	N	0.14661	0.345	0.34064	D	0.657671	P	0.43169	0.8	B	0.41723	0.365	T	0.54721	-0.8251	10	0.46703	T	0.11	.	15.0221	0.71637	0.1508:0.8492:0.0:0.0	.	665	Q9UBY0	SL9A2_HUMAN	F	665	ENSP00000233969:S665F	ENSP00000233969:S665F	S	+	2	0	SLC9A2	102688753	0.481000	0.25941	1.000000	0.80357	0.993000	0.82548	1.705000	0.37867	2.879000	0.98667	0.650000	0.86243	TCC		PASS	0.308	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			5	32	5	32	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107460166	107460166	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:107460166G>A	ENST00000409382.3	-	2	878	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H90Y|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H90Y	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	90					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.H90Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGCCCCGCATGAAAGGAACCG	0.627																																						uc002tdq.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(268-270)CAT>TAT		ST6 beta-galactosamide							29.0	35.0	33.0					2																	107460166		2175	4258	6433	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460166G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.268C>T	2.37:g.107460166G>A	ENSP00000386942:p.His90Tyr					ST6GAL2_uc002tdr.2_Missense_Mutation_p.H90Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H90Y	p.H90Y	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	387	-			90			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.268C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	1.474	-0.559061	0.03967	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.30981	2.53;2.53;1.51	5.05	0.424	0.16468	.	1.179900	0.05908	N	0.631177	T	0.20007	0.0481	N	0.22421	0.69	0.09310	N	1	P;B	0.44578	0.838;0.43	B;B	0.37550	0.253;0.062	T	0.25152	-1.0140	10	0.52906	T	0.07	-11.1218	7.8732	0.29578	0.0926:0.0:0.429:0.4784	.	90;90	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	Y	90	ENSP00000355273:H90Y;ENSP00000386942:H90Y;ENSP00000387332:H90Y	ENSP00000355273:H90Y	H	-	1	0	ST6GAL2	106826598	0.117000	0.22190	0.000000	0.03702	0.003000	0.03518	1.568000	0.36418	0.092000	0.17331	0.563000	0.77884	CAT		PASS	0.627	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		9	31	9	31	---	---	---	---
SULT1C3	442038	broad.mit.edu	37	2	108872116	108872116	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:108872116A>G	ENST00000329106.2	+	4	488	c.488A>G	c.(487-489)aAc>aGc	p.N163S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.N163S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	163					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.N163S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GATCCTCAGAACTTAGAGGAA	0.428																																						uc010ywo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(487-489)AAC>AGC		sulfotransferase family, cytosolic, 1C, member							89.0	85.0	87.0					2																	108872116		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108872116A>G	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.488A>G	2.37:g.108872116A>G	ENSP00000333310:p.Asn163Ser						p.N163S	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			4	488	+			163					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.488A>G	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	A	6.228	0.410151	0.11812	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.01359	4.98;4.98	3.58	-3.04	0.05412	Sulfotransferase domain (1);	0.770803	0.11601	N	0.547748	T	0.00524	0.0017	N	0.00347	-1.61	0.09310	N	1	B	0.09022	0.002	B	0.17098	0.017	T	0.48603	-0.9021	10	0.19147	T	0.46	.	12.6129	0.56560	0.0997:0.7097:0.1906:0.0	.	163	Q6IMI6	ST1C3_HUMAN	S	163	ENSP00000333310:N163S;ENSP00000365890:N163S	ENSP00000333310:N163S	N	+	2	0	SULT1C3	108238548	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.074000	0.11450	-0.723000	0.04915	-1.296000	0.01341	AAC		PASS	0.428	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		22	32	22	32	---	---	---	---
SULT1C2	6819	broad.mit.edu	37	2	108910229	108910229	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:108910229G>A	ENST00000437390.2	+	2	283	c.106G>A	c.(106-108)Gag>Aag	p.E36K	SULT1C2_ENST00000251481.6_Missense_Mutation_p.E36K|SULT1C2_ENST00000326853.5_Missense_Mutation_p.E36K|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E36K			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	42					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.E36K(2)|p.E36Q(2)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGAGCTTCGAGGCCAAACC	0.557																																						uc002tdy.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(106-108)GAG>AAG		sulfotransferase family, cytosolic, 1C, member 1							95.0	84.0	88.0					2																	108910229		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108910229G>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.106G>A	2.37:g.108910229G>A	ENSP00000399651:p.Glu36Lys					SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.E36K|SULT1C2_uc010ywq.1_Missense_Mutation_p.E36K	p.E36K	NM_001056	NP_001047	O00338	ST1C2_HUMAN			2	559	+			36					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.106G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.92|11.92	1.783379|1.783379	0.31593|0.31593	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390|ENST00000409067	T;T;T;T;T|.	0.01887|.	4.58;4.58;4.58;4.58;4.58|.	4.98|4.98	-1.15|-1.15	0.09709|0.09709	.|.	0.613635|.	0.15328|.	N|.	0.268160|.	T|T	0.22044|0.22044	0.0531|0.0531	N|N	0.08118|0.08118	0|0	0.30489|0.30489	N|N	0.771547|0.771547	B;B;B|.	0.10296|.	0.0;0.0;0.003|.	B;B;B|.	0.06405|.	0.0;0.0;0.002|.	T|T	0.34925|0.34925	-0.9809|-0.9809	10|5	0.26408|.	T|.	0.33|.	.|.	10.7409|10.7409	0.46152|0.46152	0.1092:0.6997:0.1911:0.0|0.1092:0.6997:0.1911:0.0	.|.	36;36;36|.	B4DLP0;O00338;O00338-2|.	.;ST1C2_HUMAN;.|.	K|Q	36|32	ENSP00000251481:E36K;ENSP00000319622:E36K;ENSP00000401996:E36K;ENSP00000387054:E36K;ENSP00000399651:E36K|.	ENSP00000251481:E36K|.	E|R	+|+	1|2	0|0	SULT1C2|SULT1C2	108276661|108276661	0.000000|0.000000	0.05858|0.05858	0.981000|0.981000	0.43875|0.43875	0.362000|0.362000	0.29581|0.29581	-0.619000|-0.619000	0.05572|0.05572	0.100000|0.100000	0.17581|0.17581	-0.304000|-0.304000	0.09214|0.09214	GAG|CGA		PASS	0.557	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		23	37	23	37	---	---	---	---
SULT1C4	27233	broad.mit.edu	37	2	108998307	108998307	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:108998307C>T	ENST00000272452.2	+	2	585	c.259C>T	c.(259-261)Cct>Tct	p.P87S	SULT1C4_ENST00000409309.3_Missense_Mutation_p.P87S	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	87					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P87S(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCAACGATTTCCTTTCCTCGA	0.403																																						uc002tea.1																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)CCT>TCT		sulfotransferase family, cytosolic, 1C, member							132.0	114.0	120.0					2																	108998307		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998307C>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.259C>T	2.37:g.108998307C>T	ENSP00000272452:p.Pro87Ser					SULT1C4_uc002tdz.2_Missense_Mutation_p.P87S|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.P87S	p.P87S	NM_006588	NP_006579	O75897	ST1C4_HUMAN			2	632	+			87					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.259C>T	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848841	0.51164	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	D;D	0.84873	-1.91;-1.91	4.33	3.37	0.38596	Sulfotransferase domain (1);	0.132792	0.35151	N	0.003406	D	0.93080	0.7797	M	0.90922	3.16	0.24758	N	0.992947	D;D;D	0.76494	0.967;0.999;0.998	P;D;D	0.79784	0.831;0.993;0.992	D	0.85930	0.1451	10	0.87932	D	0	.	13.6073	0.62054	0.0:0.8426:0.1573:0.0	.	87;87;87	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	S	87	ENSP00000272452:P87S;ENSP00000387225:P87S	ENSP00000272452:P87S	P	+	1	0	SULT1C4	108364739	0.993000	0.37304	0.964000	0.40570	0.276000	0.26787	4.197000	0.58413	2.393000	0.81446	0.609000	0.83330	CCT		PASS	0.403	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		20	37	20	37	---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113304673	113304673	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:113304673C>T	ENST00000263331.5	+	2	842	c.262C>T	c.(262-264)Cca>Tca	p.P88S	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.P88S|POLR1B_ENST00000541869.1_Missense_Mutation_p.P126S|POLR1B_ENST00000417433.2_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	88					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|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)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P88S(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ACCTACAGTTCCAAAAGGGAC	0.453																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)CCA>TCA		RNA polymerase I polypeptide B isoform 1							106.0	100.0	102.0					2																	113304673		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113304673C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.262C>T	2.37:g.113304673C>T	ENSP00000263331:p.Pro88Ser					POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.P88S|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.P126S|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron	p.P88S	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			2	842	+			88					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.262C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787279	0.49997	.	.	ENSG00000125630	ENST00000263331;ENST00000438748;ENST00000430769;ENST00000541869;ENST00000409894	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.66	5.66	0.87406	RNA polymerase, beta subunit, protrusion (1);	0.095854	0.64402	D	0.000001	T	0.47303	0.1438	N	0.25992	0.78	0.80722	D	1	B;B;B	0.29136	0.01;0.234;0.064	B;B;B	0.32090	0.015;0.14;0.042	T	0.34976	-0.9807	10	0.12766	T	0.61	-12.5951	18.886	0.92378	0.0:1.0:0.0:0.0	.	126;88;88	F5GZX4;F8W898;Q9H9Y6	.;.;RPA2_HUMAN	S	88;88;88;126;88	ENSP00000263331:P88S;ENSP00000388577:P88S;ENSP00000415754:P88S;ENSP00000444136:P126S;ENSP00000387143:P88S	ENSP00000263331:P88S	P	+	1	0	POLR1B	113021144	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.417000	0.52714	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.453	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		29	43	29	43	---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113308538	113308538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:113308538C>T	ENST00000263331.5	+	5	1301	c.721C>T	c.(721-723)Cga>Tga	p.R241*	POLR1B_ENST00000537335.1_Nonsense_Mutation_p.R30*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.R241*|POLR1B_ENST00000541869.1_Nonsense_Mutation_p.R279*|POLR1B_ENST00000417433.2_Nonsense_Mutation_p.R185*	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	241					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|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)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R241*(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTTTATTTACCGAAAAGAACT	0.378																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(721-723)CGA>TGA		RNA polymerase I polypeptide B isoform 1							231.0	216.0	221.0					2																	113308538		2203	4300	6503	SO:0001587	stop_gained	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113308538C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.721C>T	2.37:g.113308538C>T	ENSP00000263331:p.Arg241*					POLR1B_uc010fkn.2_Nonsense_Mutation_p.R185*|POLR1B_uc002thx.2_Nonsense_Mutation_p.R102*|POLR1B_uc010fko.2_Nonsense_Mutation_p.R241*|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Nonsense_Mutation_p.R279*|POLR1B_uc002thy.2_Nonsense_Mutation_p.R102*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.R18*	p.R241*	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			5	1301	+			241					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Nonsense_Mutation	SNP	ENST00000263331.5	37	c.721C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	38	6.734541	0.97801	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	.	.	.	5.02	5.02	0.67125	.	0.222954	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.94	17.4839	0.87682	0.0:1.0:0.0:0.0	.	.	.	.	X	241;279;241;30;185	.	ENSP00000263331:R241X	R	+	1	2	POLR1B	113025009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.743000	0.62110	2.493000	0.84123	0.650000	0.86243	CGA		PASS	0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		16	70	16	70	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113977710	113977710	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:113977710G>A	ENST00000429538.3	-	11	1429	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	PAX8_ENST00000263334.5_Missense_Mutation_p.P386S|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P309S|PAX8_ENST00000348715.5_Missense_Mutation_p.P386S|PAX8_ENST00000397647.3_Missense_Mutation_p.P275S	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	412					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.S412F(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CTCGCTGTAGGAGGAGTAGGG	0.627			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1234-1236)TCC>TTC		paired box 8 isoform PAX8A							38.0	39.0	39.0					2																	113977710		1976	4140	6116	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113977710G>A	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1235C>T	2.37:g.113977710G>A	ENSP00000395498:p.Ser412Phe					PAX8_uc010yxu.1_Missense_Mutation_p.P386S|PAX8_uc010yxv.1_Missense_Mutation_p.S349F|PAX8_uc002tjm.2_Missense_Mutation_p.P309S|PAX8_uc002tjn.2_Missense_Mutation_p.P275S	p.S412F	NM_003466	NP_003457	Q06710	PAX8_HUMAN			11	1401	-			412					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.1235C>T	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.021859|4.021859	0.75275|0.75275	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000263335;ENST00000397647;ENST00000348715;ENST00000263334|ENST00000429538;ENST00000465084;ENST00000497038	D;D;D;D|T;T	0.98400|0.35421	-4.91;-4.39;-4.38;-4.38|1.31;1.31	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.420852	.|0.25875	.|N	.|0.027721	T|T	0.52484|0.52484	0.1737|0.1737	.|.	.|.	.|.	0.35597|0.35597	D|D	0.807574|0.807574	D;D;D|P;P	0.67145|0.42827	0.996;0.988;0.988|0.752;0.791	D;D;D|P;P	0.75484|0.54815	0.986;0.932;0.986|0.648;0.761	T|T	0.65713|0.65713	-0.6101|-0.6101	8|9	0.21540|0.62326	T|D	0.41|0.03	.|.	14.2584|14.2584	0.66067|0.66067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;275;309|349;412	Q06710-3;Q06710-5;Q06710-4|Q06710-2;Q06710	.;.;.|.;PAX8_HUMAN	S|F	309;275;386;386|412;85;47	ENSP00000263335:P309S;ENSP00000380768:P275S;ENSP00000314750:P386S;ENSP00000263334:P386S|ENSP00000395498:S412F;ENSP00000451618:S47F	ENSP00000263334:P386S|ENSP00000395498:S412F	P|S	-|-	1|2	0|0	PAX8|PAX8	113694181|113694181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.491000|7.491000	0.81471|0.81471	2.233000|2.233000	0.73108|0.73108	0.467000|0.467000	0.42956|0.42956	CCT|TCC		PASS	0.627	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	11	7	11	---	---	---	---
RABL2A	11159	broad.mit.edu	37	2	114399678	114399678	+	Missense_Mutation	SNP	C	C	T	rs141631881	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:114399678C>T	ENST00000393167.3	+	9	884	c.659C>T	c.(658-660)tCa>tTa	p.S220L	RABL2A_ENST00000409842.1_Missense_Mutation_p.S157L|RABL2A_ENST00000393165.3_Missense_Mutation_p.S221L|RABL2A_ENST00000376439.3_Missense_Mutation_p.S157L|RABL2A_ENST00000409875.1_Missense_Mutation_p.S230L|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393166.3_Missense_Mutation_p.S220L	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	220					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S220L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GAGACCCCATCAGAGGAGGTG	0.587																																						uc002tkn.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(658-660)TCA>TTA		RAB, member of RAS oncogene family-like 2A							74.0	67.0	69.0					2																	114399678		2200	4299	6499	SO:0001583	missense	11159				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:114399678C>T		CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.659C>T	2.37:g.114399678C>T	ENSP00000376872:p.Ser220Leu					RABL2A_uc010flb.2_Missense_Mutation_p.S220L|RABL2A_uc002tkl.3_Missense_Mutation_p.S139L|RABL2A_uc002tkm.3_Missense_Mutation_p.S157L|RABL2A_uc002tks.3_Missense_Mutation_p.S221L|RABL2A_uc002tkr.2_Missense_Mutation_p.S221L|RABL2A_uc002tkp.3_Missense_Mutation_p.S221L	p.S220L	NM_007082	NP_009013	Q9UBK7	RBL2A_HUMAN			9	873	+			220					B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	37	c.659C>T	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018411	0.35606	.	.	ENSG00000144134	ENST00000393167;ENST00000409842;ENST00000393165;ENST00000393166;ENST00000409875;ENST00000376439	T;T;T;T;T;T	0.78481	-0.76;-1.18;-0.76;-0.76;-0.87;-1.18	0.947	0.947	0.19555	.	1.604340	0.02861	N	0.130277	T	0.81889	0.4918	L	0.56769	1.78	0.09310	N	1	P;P;P;P;P	0.51449	0.462;0.462;0.462;0.618;0.945	B;B;B;P;P	0.54965	0.307;0.307;0.307;0.507;0.765	T	0.64820	-0.6317	10	0.66056	D	0.02	-22.2482	5.3033	0.15790	0.0:1.0:0.0:0.0	.	221;221;220;157;221	Q6IC14;A0AUY0;Q9UBK7;B7ZBD5;Q9UBK7-2	.;.;RBL2A_HUMAN;.;.	L	220;157;221;220;230;157	ENSP00000376872:S220L;ENSP00000386460:S157L;ENSP00000376870:S221L;ENSP00000376871:S220L;ENSP00000387229:S230L;ENSP00000365622:S157L	ENSP00000365622:S157L	S	+	2	0	RABL2A	114116148	0.002000	0.14202	0.078000	0.20375	0.150000	0.21749	1.434000	0.34958	0.850000	0.35239	0.400000	0.26472	TCA		PASS	0.587	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2			8	22	8	22	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116535395	116535395	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:116535395G>A	ENST00000410059.1	+	15	1826	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	DPP10_ENST00000393147.2_Missense_Mutation_p.G453E|DPP10_ENST00000409163.1_Missense_Mutation_p.G399E|DPP10_ENST00000310323.8_Missense_Mutation_p.G442E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	449						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.G449E(1)|p.G442E(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTCCCAGAGGAAGGCAGCTG	0.403																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1345-1347)GGA>GAA		dipeptidyl peptidase 10 isoform long							151.0	134.0	140.0					2																	116535395		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116535395G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1346G>A	2.37:g.116535395G>A	ENSP00000386565:p.Gly449Glu					DPP10_uc002tlb.1_Missense_Mutation_p.G399E|DPP10_uc002tlc.1_Missense_Mutation_p.G445E|DPP10_uc002tle.2_Missense_Mutation_p.G453E|DPP10_uc002tlf.1_Missense_Mutation_p.G442E	p.G449E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			15	1803	+			449			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1346G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963599	0.53507	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.34	5.34	0.76211	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.061453	0.64402	D	0.000003	T	0.29458	0.0734	N	0.11341	0.13	0.52099	D	0.999947	B;D;P;P	0.64830	0.442;0.994;0.498;0.498	B;P;B;B	0.61592	0.219;0.891;0.326;0.326	T	0.15723	-1.0427	10	0.38643	T	0.18	-28.7786	16.5277	0.84335	0.0:0.0:1.0:0.0	.	442;453;445;449	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	449;399;453;442;399	ENSP00000386565:G449E;ENSP00000387038:G399E;ENSP00000376855:G453E;ENSP00000309066:G442E	ENSP00000309066:G442E	G	+	2	0	DPP10	116251865	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.133000	0.89605	2.499000	0.84300	0.579000	0.79373	GGA		PASS	0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		28	28	28	28	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116548737	116548737	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:116548737C>T	ENST00000410059.1	+	18	2092	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	DPP10_ENST00000393147.2_Missense_Mutation_p.L542F|DPP10_ENST00000409163.1_Missense_Mutation_p.L488F|DPP10_ENST00000310323.8_Missense_Mutation_p.L531F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	538						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.L531F(1)|p.L538I(1)|p.L538F(1)|p.L531I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATTAAAATCCTTCATATTGA	0.338																																						uc002tla.1																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1612-1614)CTT>TTT		dipeptidyl peptidase 10 isoform long							73.0	77.0	76.0					2																	116548737		2199	4300	6499	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548737C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1612C>T	2.37:g.116548737C>T	ENSP00000386565:p.Leu538Phe					DPP10_uc002tlb.1_Missense_Mutation_p.L488F|DPP10_uc002tlc.1_Missense_Mutation_p.L534F|DPP10_uc002tle.2_Missense_Mutation_p.L542F|DPP10_uc002tlf.1_Missense_Mutation_p.L531F	p.L538F	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			18	2069	+			538			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1612C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598982	0.28534	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	3.69	0.42338	.	0.306644	0.31697	N	0.007206	T	0.33118	0.0852	L	0.33485	1.01	0.36484	D	0.868016	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.25745	-1.0123	10	0.46703	T	0.11	-10.4987	13.7199	0.62720	0.0:0.7055:0.2945:0.0	.	531;542;534;538	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	F	538;488;542;531;488	ENSP00000386565:L538F;ENSP00000387038:L488F;ENSP00000376855:L542F;ENSP00000309066:L531F	ENSP00000309066:L531F	L	+	1	0	DPP10	116265207	0.988000	0.35896	1.000000	0.80357	0.868000	0.49771	0.706000	0.25690	0.842000	0.35045	0.650000	0.86243	CTT		PASS	0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		12	24	12	24	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116548746	116548746	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:116548746G>A	ENST00000410059.1	+	18	2101	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	DPP10_ENST00000393147.2_Missense_Mutation_p.D545N|DPP10_ENST00000409163.1_Missense_Mutation_p.D491N|DPP10_ENST00000310323.8_Missense_Mutation_p.D534N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	541						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.D534N(1)|p.D541N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCATATTGACGACTATGG	0.318																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1621-1623)GAC>AAC		dipeptidyl peptidase 10 isoform long							73.0	77.0	75.0					2																	116548746		2200	4300	6500	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548746G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1621G>A	2.37:g.116548746G>A	ENSP00000386565:p.Asp541Asn					DPP10_uc002tlb.1_Missense_Mutation_p.D491N|DPP10_uc002tlc.1_Missense_Mutation_p.D537N|DPP10_uc002tle.2_Missense_Mutation_p.D545N|DPP10_uc002tlf.1_Missense_Mutation_p.D534N	p.D541N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			18	2078	+			541			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1621G>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900405	0.52227	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.54	5.54	0.83059	.	0.289063	0.37261	N	0.002172	T	0.47911	0.1471	L	0.46157	1.445	0.41194	D	0.986326	B;B;B;B	0.14438	0.005;0.01;0.003;0.003	B;B;B;B	0.12837	0.008;0.006;0.005;0.004	T	0.32025	-0.9922	10	0.29301	T	0.29	-21.3615	16.7937	0.85596	0.0:0.0:1.0:0.0	.	534;545;537;541	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	541;491;545;534;491	ENSP00000386565:D541N;ENSP00000387038:D491N;ENSP00000376855:D545N;ENSP00000309066:D534N	ENSP00000309066:D534N	D	+	1	0	DPP10	116265216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.612000	0.74187	2.880000	0.98712	0.650000	0.86243	GAC		PASS	0.318	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		10	24	10	24	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119750054	119750054	+	Splice_Site	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:119750054T>C	ENST00000327097.4	+	15	1387		c.e15+2		MARCO_ENST00000541757.1_Splice_Site	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure						apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGAAAGAGGTAATCACTATT	0.408																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.e15+2		macrophage receptor with collagenous structure							111.0	119.0	116.0					2																	119750054		2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119750054T>C	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1252+2T>C	2.37:g.119750054T>C						MARCO_uc010yyf.1_Splice_Site_p.G340_splice	p.G418_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			15	1384	+								B4DW79|Q9Y5S3	Splice_Site	SNP	ENST00000327097.4	37	c.1252_splice	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	T	7.386	0.629718	0.14257	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1722	0.42917	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARCO	119466524	1.000000	0.71417	0.996000	0.52242	0.066000	0.16364	1.854000	0.39368	2.172000	0.68678	0.533000	0.62120	.		PASS	0.408	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Intron	18	29	18	29	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120684190	120684190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:120684190C>T	ENST00000263708.2	+	13	1789	c.1018C>T	c.(1018-1020)Caa>Taa	p.Q340*		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	340					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.Q340*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AACTGAAGTCCAATCAGTTCA	0.299																																						uc002tmf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1018-1020)CAA>TAA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						105.0	114.0	111.0					2																	120684190		2203	4298	6501	SO:0001587	stop_gained	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120684190C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1018C>T	2.37:g.120684190C>T	ENSP00000263708:p.Gln340*					PTPN4_uc010flj.1_Nonsense_Mutation_p.Q53*	p.Q340*	NM_002830	NP_002821	P29074	PTN4_HUMAN			13	1789	+			340					B2RBV8|Q9UDA7	Nonsense_Mutation	SNP	ENST00000263708.2	37	c.1018C>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	44	11.256890	0.99537	.	.	ENSG00000088179	ENST00000263708	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.2932	0.90137	0.0:1.0:0.0:0.0	.	.	.	.	X	340	.	ENSP00000263708:Q340X	Q	+	1	0	PTPN4	120400660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.701000	0.74624	2.602000	0.87976	0.591000	0.81541	CAA		PASS	0.299	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			34	60	34	60	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121712845	121712846	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:121712845_121712846GG>AA	ENST00000452319.1	+	5	542_543	c.482_483GG>AA	c.(481-483)aGG>aAA	p.R161K	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R161K					GLI family zinc finger 2									p.R161K(2)|p.R161R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTAAGGAGAGGGGACTGTTTG	0.594																																						uc010flp.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(481-483)AGG>AAG|c.(481-483)AGG>AGA		GLI-Kruppel family member GLI2																																				SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121712845G>A|g.chr2:121712846G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	Exception_encountered	2.37:g.121712845_121712846delinsAA	ENSP00000390436:p.Arg161Lys					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.R36K|GLI2_uc002tmw.1_Missense_Mutation_p.R161K|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Silent_p.R36R|GLI2_uc002tmw.1_Silent_p.R161R	p.R161K|p.R161R	NM_005270	NP_005261	P10070	GLI2_HUMAN			4	512|513	+	Renal(3;0.0496)	Prostate(154;0.0623)	161						Missense_Mutation|Silent	SNP	ENST00000452319.1	37	c.482G>A|c.483G>A	CCDS33283.1																																																																																				PASS	0.594	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		17	20	17	20	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408678	128408678	+	Silent	SNP	C	C	T	rs370748817		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:128408678C>T	ENST00000272644.3	+	3	527	c.453C>T	c.(451-453)acC>acT	p.T151T	GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000544369.1_Silent_p.T151T|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000393018.3_Silent_p.T151T	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	151					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.T151T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		ACTTCCTCACCTGCATCAGCG	0.597																																						uc010yzn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)ACC>ACT		G protein-coupled receptor 17 isoform a							124.0	104.0	111.0					2																	128408678		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408678C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.453C>T	2.37:g.128408678C>T						LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T151T|GPR17_uc010yzo.1_Silent_p.T123T|GPR17_uc002tpd.2_Silent_p.T123T	p.T151T	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1064	+	Colorectal(110;0.1)	Ovarian(717;0.15)	151			Helical; Name=3; (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.453C>T	CCDS2148.1																																																																																				PASS	0.597	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			29	45	29	45	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128526523	128526523	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:128526523G>A	ENST00000322313.4	-	3	415	c.257C>T	c.(256-258)gCa>gTa	p.A86V	WDR33_ENST00000393006.1_Missense_Mutation_p.A86V|WDR33_ENST00000409658.3_Missense_Mutation_p.A86V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	86					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A86V(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTAATAACCTGCATCAGGCTG	0.313																																						uc002tpg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(256-258)GCA>GTA		WD repeat domain 33 isoform 1							150.0	137.0	142.0					2																	128526523		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128526523G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.257C>T	2.37:g.128526523G>A	ENSP00000325377:p.Ala86Val					WDR33_uc002tph.1_Missense_Mutation_p.A86V|WDR33_uc002tpi.1_Missense_Mutation_p.A86V	p.A86V	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	3	440	-	Colorectal(110;0.1)		86					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.257C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601751	0.46423	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T;T	0.66460	5.0;-0.21;5.0;5.0;0.95	5.29	5.29	0.74685	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	N	0.16656	0.425	0.80722	D	1	P;B;D	0.61697	0.867;0.004;0.99	P;B;P	0.54759	0.45;0.002;0.76	T	0.64753	-0.6333	10	0.33141	T	0.24	-11.0862	19.2876	0.94085	0.0:0.0:1.0:0.0	.	86;86;86	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	V	86;8;86;86;86	ENSP00000325377:A86V;ENSP00000397547:A8V;ENSP00000376730:A86V;ENSP00000387186:A86V;ENSP00000386861:A86V	ENSP00000325377:A86V	A	-	2	0	WDR33	128242993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.627000	0.88993	0.655000	0.94253	GCA		PASS	0.313	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		17	46	17	46	---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129026283	129026283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:129026283C>T	ENST00000259241.6	-	2	702	c.689G>A	c.(688-690)tGg>tAg	p.W230*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	230					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.W230*(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCAGCCCGACCAGTCCGTGCC	0.652																																						uc002tpt.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(688-690)TGG>TAG		heparan sulfate 6-O-sulfotransferase 1							39.0	50.0	47.0					2																	129026283		2159	4275	6434	SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026283C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.689G>A	2.37:g.129026283C>T	ENSP00000259241:p.Trp230*						p.W230*	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	723	-	Colorectal(110;0.1)		230			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.689G>A	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400649	0.83120	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9666	0.89101	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	.	W	-	2	0	HS6ST1	128742753	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.407000	0.80029	2.235000	0.73313	0.462000	0.41574	TGG		PASS	0.652	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		14	19	14	19	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130949436	130949436	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:130949436C>T	ENST00000312988.7	-	5	1421	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	441					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E441K(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCCTCAGCTTCCACGGAATCC	0.567																																						uc002tqv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1321-1323)GAA>AAA		tubulin, alpha 3e							99.0	104.0	102.0					2																	130949436		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949436C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1321G>A	2.37:g.130949436C>T	ENSP00000318197:p.Glu441Lys						p.E441K	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			5	1422	-	Colorectal(110;0.1)		441						Missense_Mutation	SNP	ENST00000312988.7	37	c.1321G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	9.485	1.099174	0.20552	.	.	ENSG00000152086	ENST00000312988	T	0.78126	-1.15	2.64	2.64	0.31445	.	0.126422	0.31312	U	0.007874	T	0.74989	0.3789	M	0.76002	2.32	0.39158	D	0.962353	B	0.02656	0.0	B	0.01281	0.0	T	0.77330	-0.2628	10	0.72032	D	0.01	.	11.0076	0.47644	0.0:1.0:0.0:0.0	.	441	Q6PEY2	TBA3E_HUMAN	K	441	ENSP00000318197:E441K	ENSP00000318197:E441K	E	-	1	0	TUBA3E	130665906	0.986000	0.35501	0.770000	0.31555	0.271000	0.26615	4.350000	0.59392	1.485000	0.48380	0.455000	0.32223	GAA		PASS	0.567	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		27	45	27	45	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130949526	130949526	+	Missense_Mutation	SNP	C	C	T	rs564899059		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:130949526C>T	ENST00000312988.7	-	5	1331	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	411					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E411K(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCCATGCCTTCGCCCACGTAC	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17255	0.0		0.0	False		,,,				2504	0.0					uc002tqv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1231-1233)GAA>AAA		tubulin, alpha 3e							121.0	121.0	121.0					2																	130949526		2203	4300	6503	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949526C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1231G>A	2.37:g.130949526C>T	ENSP00000318197:p.Glu411Lys						p.E411K	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			5	1332	-	Colorectal(110;0.1)		411						Missense_Mutation	SNP	ENST00000312988.7	37	c.1231G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	10.32	1.317692	0.23994	.	.	ENSG00000152086	ENST00000312988	D	0.86097	-2.07	2.86	1.89	0.25635	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.111795	0.33691	N	0.004650	D	0.88500	0.6453	H	0.96633	3.855	0.43149	D	0.994911	B	0.25312	0.123	B	0.22152	0.038	D	0.85919	0.1445	10	0.87932	D	0	.	9.1203	0.36784	0.0:0.772:0.228:0.0	.	411	Q6PEY2	TBA3E_HUMAN	K	411	ENSP00000318197:E411K	ENSP00000318197:E411K	E	-	1	0	TUBA3E	130665996	1.000000	0.71417	0.656000	0.29637	0.639000	0.38242	7.099000	0.76981	0.469000	0.27268	0.455000	0.32223	GAA		PASS	0.602	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		41	65	41	65	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520089	131520089	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:131520089G>A	ENST00000423981.1	+	2	554	c.444G>A	c.(442-444)agG>agA	p.R148R	AMER3_ENST00000321420.4_Silent_p.R148R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	148					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R148R(1)									GCATCCCGAGGAAGAGGATTT	0.607																																						uc002trw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(442-444)AGG>AGA		hypothetical protein LOC205147							45.0	45.0	45.0					2																	131520089		2191	4280	6471	SO:0001819	synonymous_variant	205147							g.chr2:131520089G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.444G>A	2.37:g.131520089G>A						FAM123C_uc010fmv.2_Silent_p.R148R|FAM123C_uc010fms.1_Silent_p.R148R|FAM123C_uc010fmt.1_Silent_p.R148R|FAM123C_uc010fmu.1_Silent_p.R148R	p.R148R	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	634	+	Colorectal(110;0.1)		148					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.444G>A	CCDS2164.1																																																																																				PASS	0.607	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	39	21	39	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131521887	131521887	+	Missense_Mutation	SNP	C	C	T	rs577463247		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:131521887C>T	ENST00000423981.1	+	2	2352	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C	AMER3_ENST00000321420.4_Missense_Mutation_p.R748C	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	748					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R748C(1)									GTGTCGAGATCGTGTCCAGGA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18782	0.0		0.0	False		,,,				2504	0.0					uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2242-2244)CGT>TGT		hypothetical protein LOC205147							60.0	55.0	56.0					2																	131521887		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131521887C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2242C>T	2.37:g.131521887C>T	ENSP00000392700:p.Arg748Cys					FAM123C_uc010fmv.2_Missense_Mutation_p.R748C|FAM123C_uc010fms.1_Missense_Mutation_p.R748C|FAM123C_uc010fmt.1_Missense_Mutation_p.R748C|FAM123C_uc010fmu.1_Missense_Mutation_p.R748C	p.R748C	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2432	+	Colorectal(110;0.1)		748					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.2242C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872862	0.17322	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.47869	0.83;0.83	3.85	-0.527	0.11909	.	3.214010	0.01067	N	0.004749	T	0.31451	0.0797	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.38643	T	0.18	.	3.13	0.06420	0.1882:0.4383:0.0:0.3735	.	748	Q8N944	F123C_HUMAN	C	748	ENSP00000314914:R748C;ENSP00000392700:R748C	ENSP00000314914:R748C	R	+	1	0	FAM123C	131238357	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.751000	0.01821	-0.247000	0.09597	0.462000	0.41574	CGT		PASS	0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		11	21	11	21	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021837	132021837	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:132021837G>A	ENST00000356920.5	+	15	2903	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	937	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E937K(1)									CTCCTCCCTAGAGAAGAGCTA	0.627																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2809-2811)GAG>AAG		protein expressed in prostate, ovary, testis,							93.0	106.0	102.0					2																	132021837		2201	4297	6498	SO:0001583	missense	445582						ATP binding	g.chr2:132021837G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2809G>A	2.37:g.132021837G>A	ENSP00000439189:p.Glu937Lys					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E537K|POTEE_uc002tsl.2_Missense_Mutation_p.E519K|POTEE_uc010fmy.1_Missense_Mutation_p.E401K	p.E937K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2861	+			937			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2809G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	19.51	3.840484	0.71488	.	.	ENSG00000188219	ENST00000356920	D	0.94376	-3.41	.	.	.	.	.	.	.	.	D	0.91606	0.7348	M	0.84219	2.685	0.80722	D	1	P	0.45428	0.858	B	0.40636	0.335	D	0.87838	0.2649	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	937	Q6S8J3	POTEE_HUMAN	K	937	ENSP00000439189:E937K	ENSP00000439189:E937K	E	+	1	0	AC131180.1	131738307	1.000000	0.71417	0.468000	0.27192	0.473000	0.32948	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAG		PASS	0.627	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		7	157	7	157	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541729	133541729	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:133541729G>A	ENST00000409261.1	-	14	3028	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.V885V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	885								p.V885V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGGGCACTGGACCCAGTCCC	0.582																																						uc002ttp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2653-2655)GTC>GTT		Nck-associated protein 5 isoform 1							53.0	55.0	55.0					2																	133541729		1977	4159	6136	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133541729G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2655C>T	2.37:g.133541729G>A						NCKAP5_uc002ttq.2_Intron	p.V885V	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3029	-			885					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.2655C>T	CCDS46418.1																																																																																				PASS	0.582	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		24	38	24	38	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135012198	135012198	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:135012198G>T	ENST00000409645.1	+	2	476	c.224G>T	c.(223-225)gGa>gTa	p.G75V	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.G75V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	75					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.G75V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCATACGCTGGAGTCATGACA	0.517																																						uc002ttv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(223-225)GGA>GTA		N-acetylglucosaminyltransferase V							137.0	137.0	137.0					2																	135012198		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135012198G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.224G>T	2.37:g.135012198G>T	ENSP00000386377:p.Gly75Val						p.G75V	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	1	369	+			75			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.224G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997489	0.74818	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68002	-0.5524	9	0.19147	T	0.46	-14.9444	18.5677	0.91122	0.0:0.0:1.0:0.0	.	75	Q09328	MGT5A_HUMAN	V	75	.	ENSP00000281923:G75V	G	+	2	0	MGAT5	134728668	1.000000	0.71417	0.996000	0.52242	0.719000	0.41307	9.601000	0.98297	2.677000	0.91161	0.650000	0.86243	GGA		PASS	0.517	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		15	47	15	47	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135075138	135075139	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:135075138_135075139CC>TT	ENST00000409645.1	+	4	697_698	c.445_446CC>TT	c.(445-447)CCt>TTt	p.P149F	MGAT5_ENST00000281923.2_Missense_Mutation_p.P149F			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.P149S(1)|p.P149L(1)|p.P149F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTATTGCCTCCTATGGACGGC	0.421																																						uc002ttv.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(445-447)CCT>TCT|c.(445-447)CCT>CTT		N-acetylglucosaminyltransferase V																																				SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135075138C>T|g.chr2:135075139C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	Exception_encountered	2.37:g.135075138_135075139delinsTT	ENSP00000386377:p.Pro149Phe						p.P149S|p.P149L	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	3	590|591	+			149			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.445C>T|c.446C>T	CCDS2171.1																																																																																				PASS	0.421	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		13	15	13	15	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135745407	135745407	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:135745407C>T	ENST00000375845.3	-	7	1065	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.R232R|MAP3K19_ENST00000392915.1_Silent_p.R362R|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	345							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R345R(1)									TATCCTCTTCCCTAACTGCAG	0.363																																						uc002tue.1																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1033-1035)AGG>AGA		Yeast Sps1/Ste20-related kinase 4 isoform 1							61.0	59.0	60.0					2																	135745407		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745407C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1035G>A	2.37:g.135745407C>T						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.R232R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.R73R|YSK4_uc002tui.3_Silent_p.R362R	p.R345R	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1066	-			345					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1035G>A	CCDS2176.2																																																																																				PASS	0.363	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		9	19	9	19	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135966512	135966512	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:135966512C>T	ENST00000264159.6	-	18	2648	c.2532G>A	c.(2530-2532)atG>atA	p.M844I	ZRANB3_ENST00000401392.1_Missense_Mutation_p.M842I|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.M842I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	844					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.M844I(1)|p.M307I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TCACTTTGTCCATTGAGGCTA	0.383																																						uc002tum.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(2530-2532)ATG>ATA		zinc finger, RAN-binding domain containing 3							130.0	124.0	126.0					2																	135966512		1896	4116	6012	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135966512C>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2532G>A	2.37:g.135966512C>T	ENSP00000264159:p.Met844Ile					ZRANB3_uc002tuk.2_Missense_Mutation_p.M387I|ZRANB3_uc002tul.2_Missense_Mutation_p.M842I	p.M844I	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	18	2649	-			844					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2532G>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	7.436	0.639668	0.14386	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.89939	-2.59;-2.59;-2.58	5.61	5.61	0.85477	.	0.407178	0.28572	N	0.014871	D	0.83055	0.5171	L	0.46157	1.445	0.21950	N	0.999459	B;B	0.10296	0.002;0.003	B;B	0.04013	0.0;0.001	T	0.67673	-0.5610	10	0.29301	T	0.29	-9.4082	7.5785	0.27950	0.1654:0.7522:0.0:0.0825	.	844;842	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	307;307;842;844;842	ENSP00000383979:M842I;ENSP00000264159:M844I;ENSP00000441320:M842I	ENSP00000264159:M844I	M	-	3	0	ZRANB3	135682982	0.990000	0.36364	0.979000	0.43373	0.003000	0.03518	0.473000	0.22132	2.653000	0.90120	0.655000	0.94253	ATG		PASS	0.383	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		20	38	20	38	---	---	---	---
DARS	1615	broad.mit.edu	37	2	136701011	136701011	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:136701011C>A	ENST00000264161.4	-	5	575	c.360G>T	c.(358-360)gtG>gtT	p.V120V	DARS_ENST00000537273.1_Silent_p.V20V|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	120					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V120V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCACTTTTCTCACAACACCTT	0.368																																						uc002tux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(358-360)GTG>GTT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						201.0	193.0	195.0					2																	136701011		2203	4299	6502	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136701011C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.360G>T	2.37:g.136701011C>A						DARS_uc010fnj.1_Silent_p.V20V	p.V120V	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	5	544	-			120					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.360G>T	CCDS2180.1																																																																																				PASS	0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		29	70	29	70	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138330102	138330102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:138330102G>A	ENST00000409968.1	+	17	3577	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1105*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1136*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1135	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.W1105*(1)|p.W1136*(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCTGAGTGGGGACTTTGGA	0.463																																						uc002tva.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3310-3312)TGG>TGA		thrombospondin, type I, domain containing 7B							89.0	88.0	88.0					2																	138330102		1949	4160	6109	SO:0001587	stop_gained	80731							g.chr2:138330102G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3399G>A	2.37:g.138330102G>A	ENSP00000387145:p.Trp1133*					THSD7B_uc010zbj.1_Intron	p.W1104*	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	16	3312	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.3312G>A		.	.	.	.	.	.	.	.	.	.	G	43	10.397504	0.99397	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.39	0.90479	0.0:0.0:1.0:0.0	.	.	.	.	X	1133;1136;1105	.	ENSP00000272643:W1136X	W	+	3	0	THSD7B	138046572	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.110000	0.94302	2.349000	0.79799	0.650000	0.86243	TGG		PASS	0.463	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		15	38	15	38	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141607685	141607685	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:141607685G>A	ENST00000389484.3	-	29	5896	c.4925C>T	c.(4924-4926)aCt>aTt	p.T1642I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1642					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T1642I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAAATAACAGTTTCTAACCC	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4924-4926)ACT>ATT		low density lipoprotein-related protein 1B							140.0	146.0	144.0					2																	141607685		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607685G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4925C>T	2.37:g.141607685G>A	ENSP00000374135:p.Thr1642Ile	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.T824I	p.T1642I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5897	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1642			Extracellular (Potential).|LDL-receptor class B 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4925C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412188	0.83340	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96365	-3.99	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96861	0.8975	L	0.35854	1.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96221	0.9160	10	0.33141	T	0.24	.	19.0025	0.92839	0.0:0.0:1.0:0.0	.	1642	Q9NZR2	LRP1B_HUMAN	I	1642;1580	ENSP00000374135:T1642I	ENSP00000374135:T1642I	T	-	2	0	LRP1B	141324155	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.808000	0.99193	2.507000	0.84556	0.313000	0.20887	ACT		PASS	0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	40	20	40	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665470	141665470	+	Missense_Mutation	SNP	C	C	T	rs375520519		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:141665470C>T	ENST00000389484.3	-	22	4467	c.3496G>A	c.(3496-3498)Ggc>Agc	p.G1166S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1166	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G1166S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGAGCCATCAGGACAA	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3496-3498)GGC>AGC		low density lipoprotein-related protein 1B		C	SER/GLY	0,4406		0,0,2203	187.0	190.0	189.0		3496	5.6	1.0	2		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1B	NM_018557.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1166/4600	141665470	1,13005	2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665470C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3496G>A	2.37:g.141665470C>T	ENSP00000374135:p.Gly1166Ser	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.G348S	p.G1166S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4468	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1166			Extracellular (Potential).|LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3496G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906357	0.92107	0.0	1.16E-4	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92048	-2.96;-2.96	5.58	5.58	0.84498	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.070349	0.64402	D	0.000019	D	0.93986	0.8074	M	0.76328	2.33	0.49687	D	0.999817	P;P	0.52316	0.541;0.952	P;P	0.49477	0.491;0.612	D	0.94078	0.7341	10	0.56958	D	0.05	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	349;1166	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1166;1104;311	ENSP00000374135:G1166S;ENSP00000413239:G311S	ENSP00000374135:G1166S	G	-	1	0	LRP1B	141381940	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	3.914000	0.56401	2.641000	0.89580	0.585000	0.79938	GGC		PASS	0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	111	36	111	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144903180	144903180	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:144903180C>T	ENST00000392869.2	-	4	458	c.306G>A	c.(304-306)caG>caA	p.Q102Q	GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000542155.1_Silent_p.Q102Q|GTDC1_ENST00000241391.5_Silent_p.Q102Q|GTDC1_ENST00000409214.1_Silent_p.Q102Q|GTDC1_ENST00000409298.1_Silent_p.Q102Q|GTDC1_ENST00000344850.4_Silent_p.Q102Q|GTDC1_ENST00000392867.3_Silent_p.Q102Q	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	102					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.Q102Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AATCCCTCTCCTGACATTTCT	0.413																																						uc002tvp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(304-306)CAG>CAA		glycosyltransferase-like domain containing 1							77.0	80.0	79.0					2																	144903180		2202	4300	6502	SO:0001819	synonymous_variant	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144903180C>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.306G>A	2.37:g.144903180C>T						GTDC1_uc002tvo.2_Silent_p.Q102Q|GTDC1_uc002tvq.2_Silent_p.Q102Q|GTDC1_uc002tvr.2_Silent_p.Q102Q|GTDC1_uc010fnn.2_Silent_p.Q102Q|GTDC1_uc002tvs.2_Silent_p.Q70Q|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.Q102Q	p.Q102Q	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	585	-			102					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Silent	SNP	ENST00000392869.2	37	c.306G>A	CCDS33300.1																																																																																				PASS	0.413	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		21	31	21	31	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148672787	148672787	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:148672787T>A	ENST00000241416.7	+	5	1192	c.556T>A	c.(556-558)Tta>Ata	p.L186I	ACVR2A_ENST00000535787.1_Missense_Mutation_p.L78I|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L186I	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	186					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.L186I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ACCTTCTCCATTACTAGGTTT	0.393																																						uc002twg.2																			1	Substitution - Missense(1)		lung(1)	stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(556-558)TTA>ATA		activin A receptor, type IIA precursor							117.0	117.0	117.0					2																	148672787		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148672787T>A		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.556T>A	2.37:g.148672787T>A	ENSP00000241416:p.Leu186Ile					ACVR2A_uc010zbn.1_Missense_Mutation_p.L78I|ACVR2A_uc002twh.2_Missense_Mutation_p.L186I	p.L186I	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	6	825	+			186			Cytoplasmic (Potential).		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.556T>A	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449319	0.43531	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93488	-3.23;-3.23;-3.23	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.220893	0.40818	N	0.001016	D	0.90549	0.7038	M	0.65975	2.015	0.50313	D	0.999869	B	0.15141	0.012	B	0.17979	0.02	D	0.85939	0.1457	10	0.44086	T	0.13	.	5.5293	0.16974	0.1394:0.1169:0.0:0.7437	.	186	P27037	AVR2A_HUMAN	I	186;78;186	ENSP00000241416:L186I;ENSP00000439988:L78I;ENSP00000384338:L186I	ENSP00000241416:L186I	L	+	1	2	ACVR2A	148389257	0.033000	0.19621	1.000000	0.80357	0.991000	0.79684	0.263000	0.18478	2.232000	0.73038	0.528000	0.53228	TTA		PASS	0.393	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		19	42	19	42	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152348670	152348670	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:152348670C>T	ENST00000172853.10	-	145	19578	c.19431G>A	c.(19429-19431)caG>caA	p.Q6477Q	NEB_ENST00000427231.2_Silent_p.Q8333Q|NEB_ENST00000603639.1_Silent_p.Q8333Q|NEB_ENST00000604864.1_Silent_p.Q8333Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397336.2_Silent_p.Q308Q|NEB_ENST00000409198.1_Silent_p.Q6477Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Silent_p.Q246Q|NEB_ENST00000397345.3_Silent_p.Q8333Q			P20929	NEBU_HUMAN	nebulin	6477	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q6477Q(1)|p.Q8333Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCACTTTCCTCTGAATACCTC	0.443																																						uc010fnx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(19429-19431)CAG>CAA		nebulin isoform 3							236.0	227.0	230.0					2																	152348670		1940	4135	6075	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152348670C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19431G>A	2.37:g.152348670C>T						NEB_uc002txr.2_Silent_p.Q2807Q|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.Q246Q|NEB_uc002txq.2_Silent_p.Q356Q|NEB_uc010zca.1_Silent_p.Q308Q|NEB_uc010zcb.1_Silent_p.Q246Q	p.Q6477Q	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	145	19622	-			6477			Nebulin 178.|Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.19431G>A		.	.	.	.	.	.	.	.	.	.	C	8.041	0.763881	0.15914	.	.	ENSG00000183091	ENST00000397337;ENST00000434685	.	.	.	4.97	3.19	0.36642	.	.	.	.	.	T	0.61299	0.2336	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57148	-0.7861	4	.	.	.	.	10.9006	0.47049	0.0:0.8467:0.0:0.1533	.	.	.	.	K	467;574	.	.	R	-	2	0	NEB	152056916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.018000	0.30002	0.697000	0.31718	-0.253000	0.11424	AGA		PASS	0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		36	106	36	106	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152582017	152582017	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:152582017C>T	ENST00000172853.10	-	6	499	c.352G>A	c.(352-354)Gat>Aat	p.D118N	NEB_ENST00000427231.2_Missense_Mutation_p.D118N|NEB_ENST00000603639.1_Missense_Mutation_p.D118N|NEB_ENST00000604864.1_Missense_Mutation_p.D118N|NEB_ENST00000409198.1_Missense_Mutation_p.D118N|NEB_ENST00000397345.3_Missense_Mutation_p.D118N			P20929	NEBU_HUMAN	nebulin	118					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D118N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTGGAGTATCTGTTGTGCTG	0.388																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(352-354)GAT>AAT		nebulin isoform 3							238.0	232.0	234.0					2																	152582017		1907	4112	6019	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152582017C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.352G>A	2.37:g.152582017C>T	ENSP00000172853:p.Asp118Asn						p.D118N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	6	543	-			118			Nebulin 2.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.352G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.471964	0.84533	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.17	6.17	0.99709	.	0.170176	0.49916	D	0.000127	T	0.77384	0.4122	M	0.88704	2.975	0.80722	D	1	B	0.18610	0.029	B	0.28709	0.093	T	0.74432	-0.3667	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	118	P20929	NEBU_HUMAN	N	118	ENSP00000386259:D118N;ENSP00000380505:D118N;ENSP00000416578:D118N;ENSP00000172853:D118N	ENSP00000172853:D118N	D	-	1	0	NEB	152290263	0.999000	0.42202	0.973000	0.42090	0.765000	0.43378	4.371000	0.59523	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.388	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		30	79	30	79	---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153515797	153515797	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:153515797G>A	ENST00000410080.1	-	22	2937	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	826	FF 6.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S826F(1)|p.S799F(1)|p.S695F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCGAGAGCGGGAACGTTTCCT	0.328																																						uc002tyh.3																			3	Substitution - Missense(3)		lung(3)		0						c.(2395-2397)TCC>TTC		formin binding protein 3							125.0	108.0	113.0					2																	153515797		1845	4091	5936	SO:0001583	missense	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153515797G>A	AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2396C>T	2.37:g.153515797G>A	ENSP00000386458:p.Ser799Phe					PRPF40A_uc002tyg.3_Missense_Mutation_p.S255F|PRPF40A_uc010zcd.1_Missense_Mutation_p.S750F	p.S799F	NM_017892	NP_060362	O75400	PR40A_HUMAN			22	2418	-			826					O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	c.2396C>T	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904945	0.72868	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.35789	1.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.80422	2.495	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.75484	0.986;0.974	T	0.68183	-0.5476	10	0.72032	D	0.01	-7.7367	19.4863	0.95030	0.0:0.0:1.0:0.0	.	826;799	O75400;E9PFS0	PR40A_HUMAN;.	F	799;808;695;750	ENSP00000386458:S799F	ENSP00000348770:S808F	S	-	2	0	PRPF40A	153224043	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.813000	0.99286	2.696000	0.92011	0.561000	0.74099	TCC		PASS	0.328	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575		9	19	9	19	---	---	---	---
GALNT13	114805	broad.mit.edu	37	2	155102469	155102469	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:155102469G>A	ENST00000392825.3	+	7	1398	c.831G>A	c.(829-831)agG>agA	p.R277R	GALNT13_ENST00000409237.1_Silent_p.R277R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	277					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R277R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGGACAGGAGGAAAGGAGACA	0.378																																						uc002tyr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(829-831)AGG>AGA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							67.0	66.0	66.0					2																	155102469		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155102469G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.831G>A	2.37:g.155102469G>A						GALNT13_uc002tyt.3_Silent_p.R277R|GALNT13_uc010foc.1_Silent_p.R96R|GALNT13_uc010fod.2_Silent_p.R30R	p.R277R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			7	1398	+			277			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.831G>A	CCDS2199.1																																																																																				PASS	0.378	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		11	34	11	34	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159519805	159519805	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:159519805C>T	ENST00000389759.3	+	15	2537	c.2425C>T	c.(2425-2427)Cca>Tca	p.P809S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.P809S|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	809					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.P809S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGGTCCTATCCCAGGACTGTC	0.488										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2425-2427)CCA>TCA		plakophilin 4 isoform a							77.0	72.0	73.0					2																	159519805		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519805C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2425C>T	2.37:g.159519805C>T	ENSP00000374409:p.Pro809Ser	HNSCC(62;0.18)				PKP4_uc002tzu.2_Missense_Mutation_p.P809S|PKP4_uc002tzw.2_Missense_Mutation_p.P809S|PKP4_uc002tzx.2_Missense_Mutation_p.P466S|PKP4_uc002uaa.2_Missense_Mutation_p.P661S|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR	p.P809S	NM_003628	NP_003619	Q99569	PKP4_HUMAN			15	2685	+			809					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2425C>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080605	0.94050	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.84442	-1.85;-1.85	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.987	D	0.91740	0.5403	10	0.62326	D	0.03	-10.8688	19.6632	0.95882	0.0:1.0:0.0:0.0	.	764;809;809	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	809	ENSP00000374407:P809S;ENSP00000374409:P809S	ENSP00000374407:P809S	P	+	1	0	PKP4	159228051	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.625000	0.88918	0.655000	0.94253	CCA		PASS	0.488	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			14	28	14	28	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035121	160035121	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:160035121A>T	ENST00000263635.6	+	14	2194	c.1957A>T	c.(1957-1959)Aac>Tac	p.N653Y	TANC1_ENST00000454300.1_Missense_Mutation_p.N547Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	653					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.N653Y(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTCCCAGACAACAAAGACAT	0.512																																						uc002uag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1957-1959)AAC>TAC		tetratricopeptide repeat, ankyrin repeat and							62.0	63.0	63.0					2																	160035121		2128	4247	6375	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035121A>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1957A>T	2.37:g.160035121A>T	ENSP00000263635:p.Asn653Tyr					TANC1_uc010fol.1_Missense_Mutation_p.N547Y|TANC1_uc010zcm.1_Missense_Mutation_p.N645Y|TANC1_uc010fom.1_Missense_Mutation_p.N459Y|TANC1_uc002uai.1_RNA	p.N653Y	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2231	+			653					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1957A>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955700	0.73902	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72167	-0.61;-0.63	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84750	0.5541	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72075	0.942;0.974;0.976	D	0.86801	0.1992	10	0.87932	D	0	.	16.3436	0.83110	1.0:0.0:0.0:0.0	.	645;547;653	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	Y	547;653	ENSP00000396339:N547Y;ENSP00000263635:N653Y	ENSP00000263635:N653Y	N	+	1	0	TANC1	159743367	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.306000	0.78905	2.269000	0.75478	0.533000	0.62120	AAC		PASS	0.512	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			17	42	17	42	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160035487	160035487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:160035487C>T	ENST00000263635.6	+	14	2560	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.Q669*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	775					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.Q775*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGATCTTTCAGGCTATTAA	0.552																																						uc002uag.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2323-2325)CAG>TAG		tetratricopeptide repeat, ankyrin repeat and							162.0	168.0	166.0					2																	160035487		2004	4167	6171	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035487C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2323C>T	2.37:g.160035487C>T	ENSP00000263635:p.Gln775*					TANC1_uc010fol.1_Nonsense_Mutation_p.Q669*|TANC1_uc010zcm.1_Nonsense_Mutation_p.Q767*|TANC1_uc010fom.1_Nonsense_Mutation_p.Q581*|TANC1_uc002uai.1_RNA	p.Q775*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2597	+			775					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.2323C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	42	9.611560	0.99219	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.84	5.84	0.93424	.	0.054378	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	.	.	.	X	669;775	.	ENSP00000263635:Q775X	Q	+	1	0	TANC1	159743733	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.007000	0.57093	2.779000	0.95612	0.655000	0.94253	CAG		PASS	0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			49	103	49	103	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160287383	160287383	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:160287383G>A	ENST00000392783.2	-	10	2680	c.2185C>T	c.(2185-2187)Cca>Tca	p.P729S	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P727S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P729S|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P729S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCAGAGTGTGGGCTTGAAGTA	0.408																																						uc002uao.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2185-2187)CCA>TCA		bromodomain adjacent to zinc finger domain, 2B							99.0	96.0	97.0					2																	160287383		1879	4116	5995	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160287383G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2185C>T	2.37:g.160287383G>A	ENSP00000376534:p.Pro729Ser					BAZ2B_uc002uap.2_Missense_Mutation_p.P727S|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.P302S	p.P729S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			10	2537	-			729					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.2185C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227822	0.39399	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;D;T	0.96774	1.89;-4.12;1.89	5.64	4.76	0.60689	DNA-binding, integrase-type (1);	0.000000	0.36591	U	0.002511	D	0.88489	0.6450	N	0.17082	0.46	0.80722	D	1	B;B;B	0.23128	0.049;0.055;0.08	B;B;B	0.21360	0.015;0.034;0.007	T	0.80498	-0.1356	10	0.07813	T	0.8	-11.4736	4.3611	0.11203	0.1939:0.0:0.5151:0.291	.	533;727;729	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	S	727;729;729	ENSP00000376533:P727S;ENSP00000376534:P729S;ENSP00000348087:P729S	ENSP00000348087:P729S	P	-	1	0	BAZ2B	159995629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.840000	0.27600	1.388000	0.46506	0.643000	0.83706	CCA		PASS	0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			19	52	19	52	---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162274740	162274740	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:162274740C>T	ENST00000389554.3	+	3	1193	c.876C>T	c.(874-876)tcC>tcT	p.S292S	TBR1_ENST00000410035.1_Silent_p.S5S	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	292					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S292S(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATCCGGATTCCCCCAACACTG	0.468																																						uc002ubw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(874-876)TCC>TCT		T-box, brain, 1							60.0	63.0	62.0					2																	162274740		2203	4300	6503	SO:0001819	synonymous_variant	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274740C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.876C>T	2.37:g.162274740C>T						TBR1_uc010foy.2_Silent_p.S5S	p.S292S	NM_006593	NP_006584	Q16650	TBR1_HUMAN			3	1178	+			292			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	c.876C>T	CCDS33310.1																																																																																				PASS	0.468	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		14	38	14	38	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163291736	163291736	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:163291736G>A	ENST00000332142.5	-	8	2025	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	KCNH7_ENST00000328032.4_Silent_p.I635I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	642					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.I635I(1)|p.I642I(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)	AAATTGAAAAGATTTTCTCCG	0.333																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(1924-1926)ATC>ATT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						109.0	104.0	106.0					2																	163291736		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291736G>A	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.1926C>T	2.37:g.163291736G>A						KCNH7_uc002uci.2_Silent_p.I635I	p.I642I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			8	2138	-			642			Helical; Name=Segment S6; (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1926C>T	CCDS2219.1																																																																																				PASS	0.333	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		12	31	12	31	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466956	164466956	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:164466956C>T	ENST00000333129.3	-	3	1700	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	462					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.K462K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTCAGTATTCTTCAGTTGCT	0.552																																						uc002uck.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1384-1386)AAG>AAA		fidgetin							131.0	128.0	129.0					2																	164466956		2126	4235	6361	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466956C>T	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.1386G>A	2.37:g.164466956C>T							p.K462K	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1697	-			462					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1386G>A	CCDS2221.2																																																																																				PASS	0.552	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		11	30	11	30	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164468023	164468023	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:164468023C>T	ENST00000333129.3	-	3	633	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	107					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.E107K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGCCAGGGTTCACTTTCATTT	0.502																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(319-321)GAA>AAA		fidgetin							169.0	157.0	161.0					2																	164468023		1927	4129	6056	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468023C>T	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.319G>A	2.37:g.164468023C>T	ENSP00000333836:p.Glu107Lys						p.E107K	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	630	-			107					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.319G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086452	0.76642	.	.	ENSG00000182263	ENST00000333129	T	0.24350	1.86	6.17	6.17	0.99709	.	0.061993	0.64402	U	0.000006	T	0.30978	0.0782	M	0.63843	1.955	0.80722	D	1	B	0.33694	0.421	B	0.24701	0.055	T	0.06917	-1.0800	10	0.72032	D	0.01	-36.4483	20.8794	0.99867	0.0:1.0:0.0:0.0	.	107	Q5HY92	FIGN_HUMAN	K	107	ENSP00000333836:E107K	ENSP00000333836:E107K	E	-	1	0	FIGN	164176269	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		37	72	37	72	---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165557159	165557159	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:165557159G>A	ENST00000392717.2	-	11	1568	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S	COBLL1_ENST00000194871.6_Missense_Mutation_p.P550S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P484S|COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000375458.2_Missense_Mutation_p.P445S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P483S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	522						extracellular vesicular exosome (GO:0070062)		p.P484S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GATACAAAAGGAATATCTTGT	0.368																																						uc010zcw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1648-1650)CCT>TCT		COBL-like 1							135.0	139.0	138.0					2																	165557159		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165557159G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1564C>T	2.37:g.165557159G>A	ENSP00000376478:p.Pro522Ser					COBLL1_uc002ucp.2_Missense_Mutation_p.P484S|COBLL1_uc002ucq.2_Missense_Mutation_p.P445S|COBLL1_uc010zcx.1_Missense_Mutation_p.P491S|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Missense_Mutation_p.P214S	p.P550S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			13	1772	-			522					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1648C>T		.	.	.	.	.	.	.	.	.	.	G	0.114	-1.133972	0.01742	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.42	-1.04	0.10068	.	0.866509	0.10235	N	0.699103	T	0.13884	0.0336	N	0.12746	0.255	0.09310	N	1	B;B;B	0.25955	0.017;0.017;0.138	B;B;B	0.26693	0.013;0.013;0.072	T	0.27872	-1.0061	9	0.07644	T	0.81	0.0017	1.5292	0.02532	0.3549:0.2153:0.3109:0.1189	.	522;550;483	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	445;484;483;522;550	.	ENSP00000194871:P550S	P	-	1	0	COBLL1	165265405	0.204000	0.23447	0.000000	0.03702	0.099000	0.18886	0.117000	0.15583	-0.153000	0.11137	-0.140000	0.14226	CCT		PASS	0.368	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		33	69	33	69	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166152501	166152501	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166152501G>A	ENST00000375437.2	+	2	458	c.168G>A	c.(166-168)ttG>ttA	p.L56L	SCN2A_ENST00000375427.2_Silent_p.L56L|SCN2A_ENST00000283256.6_Silent_p.L56L|SCN2A_ENST00000357398.3_Silent_p.L56L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	56					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L56L(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGTGACTTGGAAGCAGGAA	0.448																																						uc002udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(166-168)TTG>TTA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						100.0	91.0	94.0					2																	166152501		2203	4300	6503	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152501G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.168G>A	2.37:g.166152501G>A						SCN2A_uc002udd.2_Silent_p.L56L|SCN2A_uc002ude.2_Silent_p.L56L	p.L56L	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			2	458	+			56					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.168G>A	CCDS33314.1																																																																																				PASS	0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	26	11	26	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166514360	166514360	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166514360G>A	ENST00000342316.4	+	3	510	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	CSRNP3_ENST00000314499.7_Missense_Mutation_p.G80S|CSRNP3_ENST00000409420.1_Missense_Mutation_p.G112S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	80					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G80S(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAGGAGGCAAGGCTTCACAAG	0.517																																						uc002udf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(238-240)GGC>AGC		cysteine-serine-rich nuclear protein 3							82.0	71.0	75.0					2																	166514360		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514360G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.238G>A	2.37:g.166514360G>A	ENSP00000344042:p.Gly80Ser					CSRNP3_uc002udg.2_Missense_Mutation_p.G80S	p.G80S	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			5	614	+			80					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.238G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.442588	0.96187	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10870	-1.0611	10	0.54805	T	0.06	-19.9879	19.2061	0.93730	0.0:0.0:1.0:0.0	.	80	Q8WYN3	CSRN3_HUMAN	S	80;87;80;80;80;112	ENSP00000412081:G80S;ENSP00000318258:G80S;ENSP00000386278:G80S;ENSP00000344042:G80S;ENSP00000387195:G112S	ENSP00000318258:G80S	G	+	1	0	CSRNP3	166222606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.604000	0.88044	0.563000	0.77884	GGC		PASS	0.517	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		21	27	21	27	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166535936	166535936	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166535936C>T	ENST00000342316.4	+	5	1703	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	CSRNP3_ENST00000314499.7_Silent_p.F477F|CSRNP3_ENST00000409420.1_Silent_p.F509F	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	477					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F477F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CGGAGCAATTCGTTGACTATG	0.498																																						uc002udf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(1429-1431)TTC>TTT		cysteine-serine-rich nuclear protein 3							76.0	69.0	71.0					2																	166535936		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535936C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1431C>T	2.37:g.166535936C>T						CSRNP3_uc002udg.2_Silent_p.F477F	p.F477F	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1807	+			477					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.1431C>T	CCDS2225.1																																																																																				PASS	0.498	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	31	9	31	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166806105	166806105	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166806105C>T	ENST00000243344.7	-	2	288	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	51					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.G51S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAACACGTACCTTCCATTAAT	0.338																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(151-153)GGT>AGT		tetratricopeptide repeat domain 21B							135.0	134.0	134.0					2																	166806105		2203	4299	6502	SO:0001630	splice_region_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166806105C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.151+1G>A	2.37:g.166806105C>T						TTC21B_uc002udl.2_Missense_Mutation_p.G51S|uc002udm.1_RNA	p.G51S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			2	284	-			51					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.151G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595868	0.66332	.	.	ENSG00000123607	ENST00000243344	T	0.57273	0.41	5.13	5.13	0.70059	.	0.054326	0.85682	D	0.000000	T	0.67767	0.2928	M	0.65975	2.015	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.59056	0.851;0.637	T	0.67937	-0.5541	9	.	.	.	-15.8755	18.198	0.89829	0.0:1.0:0.0:0.0	.	51;51	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	S	51	ENSP00000243344:G51S	.	G	-	1	0	TTC21B	166514351	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.122000	0.57910	2.380000	0.81148	0.591000	0.81541	GGT		PASS	0.338	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	Missense_Mutation	28	57	28	57	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848822	166848822	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166848822C>T	ENST00000303395.4	-	26	4962	c.4963G>A	c.(4963-4965)Ggg>Agg	p.G1655R	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1655R|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1644R|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1627R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1655					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.G1655R(1)|p.G1644R(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)	GTGCGGATCCCCTTTGCTCCT	0.502																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4930-4932)GGG>AGG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						113.0	111.0	111.0					2																	166848822		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848822C>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.4963G>A	2.37:g.166848822C>T	ENSP00000303540:p.Gly1655Arg						p.G1644R	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	4948	-			1655			Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4930G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.814224	0.90790	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000010	D	0.99026	0.9667	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	D	0.99862	1.1084	10	0.87932	D	0	.	18.8986	0.92433	0.0:1.0:0.0:0.0	.	1644	P35498-2	.	R	1655;1655;1644;1627	ENSP00000407030:G1655R;ENSP00000303540:G1655R;ENSP00000364554:G1644R;ENSP00000386312:G1627R	ENSP00000303540:G1655R	G	-	1	0	SCN1A	166557068	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.942000	0.70203	2.444000	0.82710	0.650000	0.86243	GGG		PASS	0.502	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		57	85	57	85	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166850913	166850913	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166850913C>T	ENST00000303395.4	-	25	4594	c.4595G>A	c.(4594-4596)gGa>gAa	p.G1532E	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1532E|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1521E|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1504E			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1532					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.G1521E(1)|p.G1532E(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)	AAAGACCATTCCTTGAAATTT	0.348																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(4561-4563)GGA>GAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						89.0	83.0	85.0					2																	166850913		2202	4300	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850913C>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.4595G>A	2.37:g.166850913C>T	ENSP00000303540:p.Gly1532Glu						p.G1521E	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4580	-			1532			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4562G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282384	0.80692	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96011	-3.88;-3.88;-3.84;-3.82	5.76	4.89	0.63831	.	0.065848	0.64402	D	0.000018	D	0.98188	0.9401	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99232	1.0882	10	0.87932	D	0	.	17.0609	0.86547	0.0:0.8731:0.1269:0.0	.	1521	P35498-2	.	E	1532;1532;1521;1504	ENSP00000407030:G1532E;ENSP00000303540:G1532E;ENSP00000364554:G1521E;ENSP00000386312:G1504E	ENSP00000303540:G1532E	G	-	2	0	SCN1A	166559159	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.973000	0.70456	1.449000	0.47699	-0.233000	0.12211	GGA		PASS	0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		24	41	24	41	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166897752	166897752	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166897752C>T	ENST00000303395.4	-	13	2403	c.2404G>A	c.(2404-2406)Gta>Ata	p.V802I	SCN1A_ENST00000423058.2_Missense_Mutation_p.V802I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V791I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V774I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	802					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.V802I(1)|p.V791I(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)	AAGTTTCCTACTGTAAGCACA	0.353																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(2371-2373)GTA>ATA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						75.0	68.0	71.0					2																	166897752		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897752C>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.2404G>A	2.37:g.166897752C>T	ENSP00000303540:p.Val802Ile					SCN1A_uc002udo.3_Missense_Mutation_p.V671I|SCN1A_uc010fpk.2_Missense_Mutation_p.V643I	p.V791I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			13	2389	-			802			Helical; Name=S2 of repeat II; (By similarity).|II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2371G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230878	0.58777	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.39	5.39	0.77823	.	0.206543	0.33670	N	0.004667	D	0.93772	0.8009	N	0.20766	0.605	0.44523	D	0.997477	B;B;B	0.28400	0.001;0.001;0.21	B;B;B	0.37091	0.006;0.01;0.241	D	0.91144	0.4948	10	0.31617	T	0.26	.	12.8318	0.57750	0.0:0.9248:0.0:0.0752	.	791;774;802	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	802;802;791;774	ENSP00000407030:V802I;ENSP00000303540:V802I;ENSP00000364554:V791I;ENSP00000386312:V774I	ENSP00000303540:V802I	V	-	1	0	SCN1A	166605998	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.847000	0.55895	2.671000	0.90904	0.591000	0.81541	GTA		PASS	0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		18	43	18	43	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166905459	166905459	+	Splice_Site	SNP	C	C	T	rs121917928		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:166905459C>T	ENST00000303395.4	-	7	964	c.965G>A	c.(964-966)aGa>aAa	p.R322K	SCN1A_ENST00000423058.2_Splice_Site_p.R322K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Splice_Site_p.R322K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.R322K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	322			R -> I (in EIEE6; dbSNP:rs121917928). {ECO:0000269|PubMed:17561957}.		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.R322K(2)		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)	ATAATGATATCCTGTTTGAAA	0.328																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM076497	SCN1A	M	rs121917928	c.(964-966)AGA>AAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						69.0	65.0	67.0					2																	166905459		2202	4293	6495	SO:0001630	splice_region_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166905459C>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.965-1G>A	2.37:g.166905459C>T						SCN1A_uc002udo.3_Missense_Mutation_p.R191K|SCN1A_uc010fpk.2_Missense_Mutation_p.R191K	p.R322K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			7	983	-			322			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.965G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	3.572	-0.087397	0.07097	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95788	-3.81;-3.81;-3.76;-3.74	5.27	3.45	0.39498	Ion transport (1);	0.466054	0.22480	N	0.059511	D	0.87212	0.6121	N	0.05383	-0.06	0.39033	D	0.959981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.82954	-0.0201	10	0.52906	T	0.07	.	6.7678	0.23576	0.0:0.6526:0.1348:0.2126	.	322;322;322	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	322	ENSP00000407030:R322K;ENSP00000303540:R322K;ENSP00000364554:R322K;ENSP00000386312:R322K	ENSP00000303540:R322K	R	-	2	0	SCN1A	166613705	0.718000	0.27976	0.995000	0.50966	0.839000	0.47603	0.492000	0.22435	1.375000	0.46248	0.555000	0.69702	AGA		PASS	0.328	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Missense_Mutation	6	24	6	24	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167055474	167055474	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167055474G>A	ENST00000409435.1	-	26	5674	c.5675C>T	c.(5674-5676)tCt>tTt	p.S1892F	SCN9A_ENST00000409672.1_Missense_Mutation_p.S1881F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1893F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1893F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1892	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1881F(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACAGTAGCAGACACATCCTC	0.393																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5641-5643)TCT>TTT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						192.0	205.0	200.0					2																	167055474		2193	4298	6491	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055474G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5675C>T	2.37:g.167055474G>A	ENSP00000386330:p.Ser1892Phe					uc002udp.2_Intron	p.S1881F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5983	-			1892			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5642C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332212	0.81801	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96774	-4.1;-4.12;-4.12;-4.12	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000005	D	0.98498	0.9499	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.98732	1.0713	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1881	E7EUN6	.	F	1881;1893;1893;1892	ENSP00000386306:S1881F;ENSP00000364536:S1893F;ENSP00000304748:S1893F;ENSP00000386330:S1892F	ENSP00000304748:S1893F	S	-	2	0	SCN9A	166763720	1.000000	0.71417	0.987000	0.45799	0.939000	0.58152	9.813000	0.99286	2.894000	0.99253	0.591000	0.81541	TCT		PASS	0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		57	72	57	72	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167060473	167060473	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167060473G>A	ENST00000409435.1	-	25	4765	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F	SCN9A_ENST00000409672.1_Missense_Mutation_p.S1578F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1590F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1590F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1589					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.S1578F(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCTACAATGGAGATAATCAC	0.323																																						uc010fpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(4732-4734)TCC>TTC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						34.0	33.0	33.0					2																	167060473		2066	4256	6322	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167060473G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4766C>T	2.37:g.167060473G>A	ENSP00000386330:p.Ser1589Phe					uc002udp.2_Intron	p.S1578F	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5074	-			1589			Helical; Name=S3 of repeat IV; (Potential).|IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4733C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662921	0.67700	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05	4.57	3.66	0.41972	.	0.150888	0.43579	D	0.000542	D	0.99594	0.9853	H	0.99914	4.94	0.58432	D	0.999999	D	0.76494	0.999	D	0.74348	0.983	D	0.97354	0.9965	10	0.87932	D	0	.	14.6854	0.69047	0.0:0.1462:0.8538:0.0	.	1578	E7EUN6	.	F	1578;1590;1590;1589	ENSP00000386306:S1578F;ENSP00000364536:S1590F;ENSP00000304748:S1590F;ENSP00000386330:S1589F	ENSP00000304748:S1590F	S	-	2	0	SCN9A	166768719	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.770000	0.98971	1.020000	0.39573	0.455000	0.32223	TCC		PASS	0.323	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		7	9	7	9	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167141026	167141026	+	Silent	SNP	G	G	A	rs532457688		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167141026G>A	ENST00000409435.1	-	11	1910	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	SCN9A_ENST00000409672.1_Silent_p.L637L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.L638L|SCN9A_ENST00000303354.6_Silent_p.L638L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	637					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L637L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGGGAGCATGAGGGCTGAGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18847	0.0		0.0	False		,,,				2504	0.001					uc010fpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1909-1911)CTC>CTT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						61.0	63.0	63.0					2																	167141026		2188	4298	6486	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141026G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1911C>T	2.37:g.167141026G>A						uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.L508L|SCN9A_uc002uds.1_Silent_p.L508L|SCN9A_uc002udt.1_Silent_p.L508L	p.L637L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2252	-			637					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1911C>T	CCDS46441.1																																																																																				PASS	0.547	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		20	35	20	35	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167300037	167300037	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167300037C>T	ENST00000409855.1	-	13	1902	c.1776G>A	c.(1774-1776)atG>atA	p.M592I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	592					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M592I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GAAGAAGAGCCATTCCTGCAA	0.358																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1774-1776)ATG>ATA		sodium channel, voltage-gated, type VII, alpha							73.0	66.0	68.0					2																	167300037		1836	4097	5933	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167300037C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1776G>A	2.37:g.167300037C>T	ENSP00000386796:p.Met592Ile					SCN7A_uc010fpm.1_RNA	p.M592I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			13	1903	-			592						Missense_Mutation	SNP	ENST00000409855.1	37	c.1776G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202443	0.22121	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98060	-4.69;-4.69	4.87	-0.996	0.10218	Ion transport (1);	1.193380	0.05890	N	0.628065	D	0.89897	0.6848	N	0.01631	-0.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83646	0.0153	10	0.66056	D	0.02	.	4.7686	0.13144	0.0:0.2829:0.2922:0.4249	.	592	Q01118	SCN7A_HUMAN	I	592	ENSP00000386796:M592I;ENSP00000413699:M592I	ENSP00000259060:M592I	M	-	3	0	SCN7A	167008283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.331000	0.02672	-0.069000	0.12931	-0.282000	0.10007	ATG		PASS	0.358	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	11	4	11	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167300157	167300157	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167300157C>T	ENST00000409855.1	-	13	1782	c.1656G>A	c.(1654-1656)atG>atA	p.M552I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	552					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M552I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTAAAAATCATTTCTGCTG	0.313																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1654-1656)ATG>ATA		sodium channel, voltage-gated, type VII, alpha							60.0	55.0	56.0					2																	167300157		1807	4059	5866	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167300157C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1656G>A	2.37:g.167300157C>T	ENSP00000386796:p.Met552Ile					SCN7A_uc010fpm.1_RNA	p.M552I	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			13	1783	-			552			Helical; Name=S2 of repeat II; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.1656G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683095	0.88542	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97186	-4.28;-4.28	4.87	4.87	0.63330	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.97065	0.9041	M	0.84773	2.715	0.49299	D	0.999777	P	0.34462	0.454	B	0.38156	0.266	D	0.97697	1.0182	10	0.87932	D	0	.	15.8957	0.79333	0.0:1.0:0.0:0.0	.	552	Q01118	SCN7A_HUMAN	I	552	ENSP00000386796:M552I;ENSP00000413699:M552I	ENSP00000259060:M552I	M	-	3	0	SCN7A	167008403	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.692000	0.91855	0.591000	0.81541	ATG		PASS	0.313	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			3	5	3	5	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167301432	167301432	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:167301432G>A	ENST00000409855.1	-	12	1592	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	489					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P489L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TAACCAACAGGGAGAACAATT	0.308																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1465-1467)CCC>CTC		sodium channel, voltage-gated, type VII, alpha							73.0	71.0	72.0					2																	167301432		1811	4086	5897	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167301432G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1466C>T	2.37:g.167301432G>A	ENSP00000386796:p.Pro489Leu					SCN7A_uc010fpm.1_RNA	p.P489L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			12	1593	-			489						Missense_Mutation	SNP	ENST00000409855.1	37	c.1466C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125678	0.77436	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97114	-4.17;-4.25	5.29	5.29	0.74685	.	0.000000	0.49916	D	0.000136	D	0.98463	0.9488	M	0.88377	2.95	0.43913	D	0.996553	D	0.76494	0.999	D	0.64144	0.922	D	0.99211	1.0876	10	0.87932	D	0	.	16.4649	0.84076	0.0:0.0:1.0:0.0	.	489	Q01118	SCN7A_HUMAN	L	489	ENSP00000386796:P489L;ENSP00000413699:P489L	ENSP00000259060:P489L	P	-	2	0	SCN7A	167009678	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	3.884000	0.56175	2.743000	0.94032	0.650000	0.86243	CCC		PASS	0.308	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			10	28	10	28	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168098389	168098389	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168098389A>G	ENST00000409728.1	+	9	1333	c.1244A>G	c.(1243-1245)aAa>aGa	p.K415R	XIRP2_ENST00000420519.1_Missense_Mutation_p.K415R|XIRP2_ENST00000409273.1_Missense_Mutation_p.K160R|XIRP2_ENST00000409195.1_Missense_Mutation_p.K382R|XIRP2_ENST00000409605.1_Missense_Mutation_p.K160R|XIRP2_ENST00000409043.1_Missense_Mutation_p.K382R|XIRP2_ENST00000295237.9_Missense_Mutation_p.K382R|XIRP2_ENST00000409756.2_Missense_Mutation_p.K382R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	207					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.K382R(1)|p.K415R(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						TATTCTGACAAAGAGATGACA	0.363																																						uc002udx.2																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(1144-1146)AAA>AGA		xin actin-binding repeat containing 2 isoform 1							122.0	116.0	118.0					2																	168098389		1834	4079	5913	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168098389A>G	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	ENST00000409728.1:c.1244A>G	2.37:g.168098389A>G	ENSP00000386619:p.Lys415Arg					XIRP2_uc010fpn.2_Missense_Mutation_p.K415R|XIRP2_uc010fpo.2_Missense_Mutation_p.K382R|XIRP2_uc010fpp.2_Missense_Mutation_p.K382R|XIRP2_uc002udy.2_Missense_Mutation_p.K207R|XIRP2_uc010fpq.2_Missense_Mutation_p.K160R|XIRP2_uc010fpr.2_Missense_Mutation_p.K160R	p.K382R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			7	1163	+			207					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.1145A>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682067	0.47991	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;4.2;-1.12;-1.12;4.2;4.2;-1.12	5.27	2.79	0.32731	.	0.306550	0.35013	N	0.003507	T	0.72574	0.3477	L	0.42686	1.345	0.25417	N	0.988308	B;P;P;P;B	0.42375	0.15;0.734;0.778;0.472;0.058	B;P;P;B;B	0.50405	0.063;0.561;0.64;0.13;0.028	T	0.60510	-0.7249	10	0.31617	T	0.26	-16.2141	3.993	0.09545	0.6308:0.2085:0.1607:0.0	.	207;382;415;207;160	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	R	382;415;382;382;415;382;160;160	ENSP00000386454:K382R;ENSP00000386619:K415R;ENSP00000386840:K382R;ENSP00000386724:K382R;ENSP00000415541:K415R;ENSP00000295237:K382R;ENSP00000387255:K160R;ENSP00000386981:K160R	ENSP00000295237:K382R	K	+	2	0	XIRP2	167806635	0.998000	0.40836	0.966000	0.40874	0.787000	0.44495	0.400000	0.20932	0.916000	0.36871	0.482000	0.46254	AAA		PASS	0.363	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		30	70	30	70	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103270	168103270	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168103270C>T	ENST00000409195.1	+	9	5457	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1568L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1790L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1615					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.L1790L(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						AGGTACAAAACTGTTACTGAA	0.393																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5368-5370)CTG>TTG		xin actin-binding repeat containing 2 isoform 1							180.0	172.0	175.0					2																	168103270		1934	4139	6073	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103270C>T	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.5368C>T	2.37:g.168103270C>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1615L|XIRP2_uc010fpq.2_Silent_p.L1568L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L1790L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5386	+			1615					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.5368C>T	CCDS42769.1																																																																																				PASS	0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	87	35	87	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103905	168103905	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168103905G>A	ENST00000409195.1	+	9	6092	c.6003G>A	c.(6001-6003)atG>atA	p.M2001I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M1779I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2001I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1826					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.M2001I(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						GTCAAACTATGGGGAAATCTT	0.453																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6001-6003)ATG>ATA		xin actin-binding repeat containing 2 isoform 1							50.0	47.0	48.0					2																	168103905		1874	4099	5973	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103905G>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.6003G>A	2.37:g.168103905G>A	ENSP00000386840:p.Met2001Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.M1826I|XIRP2_uc010fpq.2_Missense_Mutation_p.M1779I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.M2001I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6021	+			1826					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6003G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.820	-0.472509	0.04445	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02280	4.36;4.36;4.37	5.31	0.841	0.18918	.	1.409960	0.04001	N	0.296432	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47182	-0.9137	10	0.15952	T	0.53	0.6747	1.3559	0.02182	0.4367:0.1313:0.0948:0.3373	.	1826;1826;1779	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2001;2001;1779	ENSP00000386840:M2001I;ENSP00000295237:M2001I;ENSP00000387255:M1779I	ENSP00000295237:M2001I	M	+	3	0	XIRP2	167812151	0.000000	0.05858	0.001000	0.08648	0.309000	0.27889	-0.113000	0.10774	0.328000	0.23435	0.650000	0.86243	ATG		PASS	0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	24	10	24	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105874	168105874	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168105874G>A	ENST00000409195.1	+	9	8061	c.7972G>A	c.(7972-7974)Gaa>Aaa	p.E2658K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2436K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2658K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2483					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.E2658K(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						GATGAAAAAGGAAGTTTTACA	0.403																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7972-7974)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							53.0	53.0	53.0					2																	168105874		1889	4098	5987	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105874G>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.7972G>A	2.37:g.168105874G>A	ENSP00000386840:p.Glu2658Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2483K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2436K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E4K	p.E2658K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7990	+			2483					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7972G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457949	0.84317	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02737	4.18;4.18;4.18	6.07	5.19	0.71726	.	0.427611	0.26193	N	0.025796	T	0.05318	0.0141	M	0.67953	2.075	0.44603	D	0.997575	B;B;B	0.23377	0.022;0.084;0.084	B;B;B	0.23419	0.01;0.028;0.046	T	0.12400	-1.0549	10	0.52906	T	0.07	-13.5056	11.8068	0.52161	0.0825:0.0:0.9175:0.0	.	2483;2483;2436	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2658;2658;2436;72	ENSP00000386840:E2658K;ENSP00000295237:E2658K;ENSP00000387255:E2436K	ENSP00000295237:E2658K	E	+	1	0	XIRP2	167814120	0.962000	0.33011	0.982000	0.44146	0.921000	0.55340	1.187000	0.32090	2.885000	0.99019	0.655000	0.94253	GAA		PASS	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		43	47	43	47	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107429	168107429	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168107429G>A	ENST00000409195.1	+	9	9616	c.9527G>A	c.(9526-9528)aGg>aAg	p.R3176K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2954K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3176K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3001					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.R3176K(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						TCTCCACCCAGGAGTCGCTCT	0.498																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9526-9528)AGG>AAG		xin actin-binding repeat containing 2 isoform 1							85.0	85.0	85.0					2																	168107429		1928	4135	6063	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107429G>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.9527G>A	2.37:g.168107429G>A	ENSP00000386840:p.Arg3176Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3001K|XIRP2_uc010fpq.2_Missense_Mutation_p.R2954K|XIRP2_uc010fpr.2_Intron	p.R3176K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9545	+			3001					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9527G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.669028	0.03403	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	5.75	3.87	0.44632	.	0.435749	0.26109	N	0.026293	T	0.02119	0.0066	L	0.27053	0.805	0.09310	N	0.999998	B;B;B	0.12013	0.001;0.002;0.005	B;B;B	0.09377	0.002;0.004;0.004	T	0.48658	-0.9016	10	0.12430	T	0.62	-3.5516	7.1365	0.25531	0.1603:0.1374:0.7022:0.0	.	3001;3001;2954	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	3176;3176;2954;590	ENSP00000386840:R3176K;ENSP00000295237:R3176K;ENSP00000387255:R2954K	ENSP00000295237:R3176K	R	+	2	0	XIRP2	167815675	0.001000	0.12720	0.660000	0.29694	0.305000	0.27757	1.022000	0.30052	0.704000	0.31869	0.460000	0.39030	AGG		PASS	0.498	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	68	29	68	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168108255	168108255	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:168108255C>T	ENST00000409195.1	+	9	10442	c.10353C>T	c.(10351-10353)ttC>ttT	p.F3451F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F3229F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F3451F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3276					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.F3451F(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						GCTGTGACTTCAAGCATGCCC	0.403																																						uc002udx.2																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(10351-10353)TTC>TTT		xin actin-binding repeat containing 2 isoform 1							60.0	60.0	60.0					2																	168108255		1917	4138	6055	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108255C>T	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.10353C>T	2.37:g.168108255C>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F3276F|XIRP2_uc010fpq.2_Silent_p.F3229F|XIRP2_uc010fpr.2_Intron	p.F3451F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10371	+			3276					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.10353C>T	CCDS42769.1																																																																																				PASS	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		14	21	14	21	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169830316	169830316	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:169830316C>T	ENST00000263817.6	-	13	1467	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	448	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.G448E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGTCATTTCCCCTGGTTTAAT	0.438																																						uc002ueo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1342-1344)GGG>GAG		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						144.0	138.0	140.0					2																	169830316		1871	4110	5981	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169830316C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1343G>A	2.37:g.169830316C>T	ENSP00000263817:p.Gly448Glu					ABCB11_uc010zda.1_5'Flank|ABCB11_uc010zdb.1_5'Flank	p.G448E	NM_003742	NP_003733	O95342	ABCBB_HUMAN			13	1469	-			448			Cytoplasmic (Potential).|ABC transporter 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.1343G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795381	0.90453	.	.	ENSG00000073734	ENST00000263817	D	0.96136	-3.92	6.08	5.21	0.72293	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.088138	0.85682	D	0.000000	D	0.98419	0.9474	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99517	1.0957	10	0.87932	D	0	.	15.5797	0.76425	0.0:0.934:0.0:0.066	.	448	O95342	ABCBB_HUMAN	E	448	ENSP00000263817:G448E	ENSP00000263817:G448E	G	-	2	0	ABCB11	169538562	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.768000	0.85345	1.584000	0.49913	-0.150000	0.13652	GGG		PASS	0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		29	77	29	77	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170003310	170003310	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:170003310C>T	ENST00000263816.3	-	69	13035	c.12750G>A	c.(12748-12750)aaG>aaA	p.K4250K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4250					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.K4250K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TAACGTCCTCCTTGAAGTCAC	0.383																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12748-12750)AAG>AAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						108.0	105.0	106.0					2																	170003310		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170003310C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12750G>A	2.37:g.170003310C>T							p.K4250K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	69	12963	-			4250			LDL-receptor class B 37.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12750G>A	CCDS2232.1																																																																																				PASS	0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		13	31	13	31	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170063416	170063416	+	Missense_Mutation	SNP	G	G	A	rs368840374		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:170063416G>A	ENST00000263816.3	-	39	7099	c.6814C>T	c.(6814-6816)Cgt>Tgt	p.R2272C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2272					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2272C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGCCATAACGAATCACTTCA	0.393																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(6814-6816)CGT>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						136.0	137.0	137.0					2																	170063416		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170063416G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6814C>T	2.37:g.170063416G>A	ENSP00000263816:p.Arg2272Cys						p.R2272C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7027	-			2272			LDL-receptor class B 23.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6814C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067108	0.55539	.	.	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.89	4.89	0.63831	Six-bladed beta-propeller, TolB-like (1);	0.101759	0.64402	D	0.000003	D	0.95252	0.8460	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	D	0.94942	0.8092	10	0.46703	T	0.11	.	12.669	0.56857	0.096:0.0:0.904:0.0	.	2272	P98164	LRP2_HUMAN	C	2272	ENSP00000263816:R2272C	ENSP00000263816:R2272C	R	-	1	0	LRP2	169771662	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.539000	0.53604	1.235000	0.43724	0.655000	0.94253	CGT		PASS	0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		41	66	41	66	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170136994	170136995	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:170136994_170136995CC>TT	ENST00000263816.3	-	11	1491_1492	c.1206_1207GG>AA	c.(1204-1209)cgGGat>cgAAat	p.D403N	LRP2_ENST00000443831.1_Missense_Mutation_p.D403N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	403					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D403N(3)|p.R402R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATTAACAAATCCCGACCATTGG	0.49																																						uc002ues.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|upper_aerodigestive_tract(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1207-1209)GAT>AAT|c.(1204-1206)CGG>CGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)																																			SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170136994C>T|g.chr2:170136995C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1206_1207delinsTT	2.37:g.170136994_170136995delinsTT	ENSP00000263816:p.Asp403Asn					LRP2_uc010zdf.1_Missense_Mutation_p.D403N|LRP2_uc010zdf.1_Silent_p.R402R	p.D403N|p.R402R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	11	1420|1419	-			403|402			Extracellular (Potential).		O00711|Q16215	Missense_Mutation|Silent	SNP	ENST00000263816.3	37	c.1207G>A|c.1206G>A	CCDS2232.1																																																																																				PASS	0.490	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	28	8	28	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171687555	171687555	+	Missense_Mutation	SNP	C	C	T	rs150945113		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:171687555C>T	ENST00000358196.3	+	5	950	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	GAD1_ENST00000344257.5_Missense_Mutation_p.R134C|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R134C	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	134					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.R134C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GACATTTGATCGCTCCACCAA	0.542																																						uc002ugi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)CGC>TGC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	96.0	101.0		400,400	4.9	1.0	2	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense	GAD1	NM_000817.2,NM_013445.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	134/595,134/225	171687555	1,13005	2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171687555C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.400C>T	2.37:g.171687555C>T	ENSP00000350928:p.Arg134Cys					GAD1_uc002ugh.2_Missense_Mutation_p.R134C	p.R134C	NM_000817	NP_000808	Q99259	DCE1_HUMAN			5	822	+			134					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.400C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997842	0.74818	2.27E-4	0.0	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.43294	0.95;0.95;0.95	5.9	4.95	0.65309	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.66351	0.817;0.943	T	0.68205	-0.5470	10	0.87932	D	0	-13.6358	16.0631	0.80853	0.1992:0.8008:0.0:0.0	.	134;134	Q99259;Q99259-3	DCE1_HUMAN;.	C	134	ENSP00000350928:R134C;ENSP00000364421:R134C;ENSP00000341167:R134C	ENSP00000341167:R134C	R	+	1	0	GAD1	171395801	0.996000	0.38824	0.999000	0.59377	0.991000	0.79684	2.035000	0.41155	2.786000	0.95864	0.643000	0.83706	CGC		PASS	0.542	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			15	30	15	30	---	---	---	---
GAD1	2571	broad.mit.edu	37	2	171716237	171716237	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:171716237G>A	ENST00000358196.3	+	17	2180	c.1630G>A	c.(1630-1632)Gcc>Acc	p.A544T		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	544					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.A544T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AAAAATCAAAGCCCTGATGAT	0.468																																						uc002ugi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)GCC>ACC		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						59.0	55.0	56.0					2																	171716237		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171716237G>A		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1630G>A	2.37:g.171716237G>A	ENSP00000350928:p.Ala544Thr					GAD1_uc010fqc.2_Missense_Mutation_p.A163T	p.A544T	NM_000817	NP_000808	Q99259	DCE1_HUMAN			17	2052	+			544					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1630G>A	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362161	0.61403	.	.	ENSG00000128683	ENST00000358196	T	0.38401	1.14	5.47	5.47	0.80525	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	M	0.74389	2.26	0.80722	D	1	P	0.46952	0.887	P	0.45753	0.492	T	0.50742	-0.8792	10	0.46703	T	0.11	-14.2589	19.6956	0.96023	0.0:0.0:1.0:0.0	.	544	Q99259	DCE1_HUMAN	T	544	ENSP00000350928:A544T	ENSP00000350928:A544T	A	+	1	0	GAD1	171424483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.729000	0.93468	0.585000	0.79938	GCC		PASS	0.468	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			7	25	7	25	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171974367	171974368	+	Splice_Site	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:171974367_171974368CC>TT	ENST00000431350.2	-	2	544	c.140_140GG>AA	c.(139-141)gGGg>gAAgg	p.G47E	TLK1_ENST00000521943.1_5'UTR|TLK1_ENST00000360843.3_Splice_Site_p.G47E|TLK1_ENST00000442919.2_5'UTR			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	47					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)|p.G47D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATCCATTGCACCTATTAAGAAA	0.332																																						uc002ugn.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	central_nervous_system(1)	1						c.(139-141)GGT>GAT|c.e2-1		tousled-like kinase 1 isoform 1																																				SO:0001630	splice_region_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171974367C>T|g.chr2:171974368C>T	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.140_140delinsTT	2.37:g.171974367_171974368delinsTT						TLK1_uc002ugo.2_Missense_Mutation_p.G47D|TLK1_uc002ugp.2_Translation_Start_Site|TLK1_uc002ugq.2_RNA|TLK1_uc002ugo.2_Splice_Site_p.G47_splice|TLK1_uc002ugp.2_Splice_Site|TLK1_uc002ugq.2_Splice_Site	p.G47D|p.G47_splice	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			2	612	-			47|					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation|Splice_Site	SNP	ENST00000431350.2	37	c.140G>A|c.140_splice	CCDS2241.1																																																																																				PASS	0.332	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	Missense_Mutation	11|8	32	8	32	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173352931	173352931	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:173352931G>A	ENST00000264106.6	+	20	2800	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	ITGA6_ENST00000409080.1_Missense_Mutation_p.G827E|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.G866E|ITGA6_ENST00000343713.4_Missense_Mutation_p.G822E|ITGA6_ENST00000264107.7_Missense_Mutation_p.G827E|ITGA6_ENST00000409532.1_Missense_Mutation_p.G708E			P23229	ITA6_HUMAN	integrin, alpha 6	866					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G827E(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATGAAGTGGGAAGTTTAATA	0.378																																						uc002uhp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(2479-2481)GGA>GAA		integrin alpha chain, alpha 6 isoform a							145.0	147.0	146.0					2																	173352931		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173352931G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2597G>A	2.37:g.173352931G>A	ENSP00000264106:p.Gly866Glu					ITGA6_uc010zdy.1_Missense_Mutation_p.G708E|ITGA6_uc002uho.1_Missense_Mutation_p.G827E|ITGA6_uc010fqm.1_Missense_Mutation_p.G473E	p.G827E	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		19	2683	+			866			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2480G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.790053	0.90367	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.94578	0.7777	10	0.87932	D	0	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	822;866;827;827	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	E	708;827;866;866;822;827;866;822;52	ENSP00000386614:G708E;ENSP00000264107:G827E;ENSP00000264106:G866E;ENSP00000364369:G866E;ENSP00000341078:G822E;ENSP00000386896:G827E;ENSP00000406694:G866E;ENSP00000394169:G822E;ENSP00000388435:G52E	ENSP00000264106:G866E	G	+	2	0	ITGA6	173061177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.176000	0.94839	2.772000	0.95346	0.650000	0.86243	GGA		PASS	0.378	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				9	34	9	34	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175613498	175613498	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:175613498C>A	ENST00000261007.5	-	9	1193	c.1127G>T	c.(1126-1128)aGa>aTa	p.R376I	CHRNA1_ENST00000348749.5_Missense_Mutation_p.R351I|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R269I|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	376					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.R376I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TCTGGATGGTCTTTTCATTGT	0.393											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ujd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1126-1128)AGA>ATA		nicotinic cholinergic receptor alpha 1 isoform a							119.0	113.0	115.0					2																	175613498		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175613498C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1127G>T	2.37:g.175613498C>A	ENSP00000261007:p.Arg376Ile		OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R351I	p.R376I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			9	1205	-			376			Cytoplasmic.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.1127G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161306	0.78226	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542	D;D;D	0.87029	-2.2;-2.2;-2.2	5.51	5.51	0.81932	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046212	0.85682	D	0.000000	D	0.92779	0.7704	M	0.74647	2.275	0.80722	D	1	P;D	0.53885	0.87;0.963	P;P	0.60682	0.721;0.878	D	0.92566	0.6062	10	0.56958	D	0.05	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	351;376	Q53SH4;P02708	.;ACHA_HUMAN	I	351;376;269	ENSP00000261008:R351I;ENSP00000261007:R376I;ENSP00000387026:R269I	ENSP00000261007:R376I	R	-	2	0	CHRNA1	175321744	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	AGA		PASS	0.393	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			11	21	11	21	---	---	---	---
KIAA1715	80856	broad.mit.edu	37	2	176812320	176812320	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:176812320T>C	ENST00000272748.4	-	9	841	c.594A>G	c.(592-594)ccA>ccG	p.P198P	KIAA1715_ENST00000535310.1_Silent_p.P123P|KIAA1715_ENST00000544803.1_Silent_p.P198P	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	198	Pro-rich.				blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.P198P(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AACTGTCCTTTGGTGGTCCAG	0.522																																						uc002ukc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(592-594)CCA>CCG		Lunapark							134.0	125.0	128.0					2																	176812320		2203	4300	6503	SO:0001819	synonymous_variant	80856					integral to membrane	protein binding	g.chr2:176812320T>C	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.594A>G	2.37:g.176812320T>C						KIAA1715_uc010zer.1_Silent_p.P198P|KIAA1715_uc010fqw.1_Silent_p.P264P|KIAA1715_uc010zes.1_Silent_p.P200P|KIAA1715_uc002ukd.1_Silent_p.P75P|KIAA1715_uc010zet.1_RNA	p.P198P	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	787	-			198			Cytoplasmic (Potential).|Pro-rich.		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Silent	SNP	ENST00000272748.4	37	c.594A>G	CCDS33332.1																																																																																				PASS	0.522	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		13	33	13	33	---	---	---	---
EVX2	344191	broad.mit.edu	37	2	176946977	176946978	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:176946977_176946978CC>TT	ENST00000308618.4	-	2	763_764	c.627_628GG>AA	c.(625-630)cgGGag>cgAAag	p.E210K		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	210					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E210K(2)|p.R209R(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACATAGTTCTCCCGGTAGAACT	0.663																																						uc010zeu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(628-630)GAG>AAG|c.(625-627)CGG>CGA		even-skipped homeobox 2																																				SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176946977C>T|g.chr2:176946978C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.627_628delinsTT	2.37:g.176946977_176946978delinsTT	ENSP00000312385:p.Glu210Lys						p.E210K|p.R209R	NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	814|813	-			210|209			Homeobox.			Missense_Mutation|Silent	SNP	ENST00000308618.4	37	c.628G>A|c.627G>A	CCDS33333.1																																																																																				PASS	0.663	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			3	5|6	3	5	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393301	179393301	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179393301C>T	ENST00000591111.1	-	310	102478	c.102254G>A	c.(102253-102255)aGt>aAt	p.S34085N	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S35726N|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26661N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S26853N|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S33158N|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26786N			Q8WZ42	TITIN_HUMAN	titin	34085	Ig-like 151.				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.S33158N(1)|p.S33156N(1)|p.S26661N(1)|p.S26853N(1)|p.S26786N(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)			TGGCTCGCCACTGATTTCACA	0.363																																						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.(99472-99474)AGT>AAT		titin isoform N2-A							54.0	50.0	51.0					2																	179393301		1896	4109	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393301C>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.102254G>A	2.37:g.179393301C>T	ENSP00000465570:p.Ser34085Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26853N|TTN_uc010zfi.1_Missense_Mutation_p.S26786N|TTN_uc010zfj.1_Missense_Mutation_p.S26661N|TTN_uc002umq.2_Missense_Mutation_p.S175N	p.S33158N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		309	99697	-			34085					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.99473G>A		.	.	.	.	.	.	.	.	.	.	C	14.51	2.557182	0.45590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.56	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62196	0.2408	L	0.52823	1.66	0.26374	N	0.976843	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.002	T	0.57940	-0.7724	9	0.87932	D	0	.	13.5153	0.61537	0.0:0.317:0.6115:0.0715	.	26661;26786;26853;34085;33158	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	N	33158;26661;26853;26786;26658	ENSP00000343764:S33158N;ENSP00000434586:S26661N;ENSP00000340554:S26853N;ENSP00000352154:S26786N	ENSP00000340554:S26853N	S	-	2	0	TTN	179101547	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.152000	0.42272	0.235000	0.21160	0.561000	0.74099	AGT		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	16	9	16	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179407953	179407953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179407953C>T	ENST00000591111.1	-	297	92048	c.91824G>A	c.(91822-91824)tgG>tgA	p.W30608*	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W32249*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W23184*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W23376*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W29681*|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W23309*|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30608	Fibronectin type-III 123. {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.W23184*(1)|p.W23309*(1)|p.W23376*(1)|p.W29681*(1)|p.W29679*(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)			CAACCTTCATCCATCTCTCTG	0.448																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(89041-89043)TGG>TGA		titin isoform N2-A							211.0	201.0	204.0					2																	179407953		1949	4151	6100	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407953C>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.91824G>A	2.37:g.179407953C>T	ENSP00000465570:p.Trp30608*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W23376*|TTN_uc010zfi.1_Nonsense_Mutation_p.W23309*|TTN_uc010zfj.1_Nonsense_Mutation_p.W23184*	p.W29681*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		296	89267	-			30608					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.89043G>A		.	.	.	.	.	.	.	.	.	.	C	68	106.062724	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	.	.	.	X	29681;23184;23376;23309;23181	.	ENSP00000340554:W23376X	W	-	3	0	TTN	179116199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.793000	0.96121	0.655000	0.94253	TGG		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		64	133	64	133	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408626	179408626	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179408626T>G	ENST00000591111.1	-	296	91546	c.91322A>C	c.(91321-91323)aAa>aCa	p.K30441T	RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K32082T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K23017T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K23209T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K29514T|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K23142T|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30441	Ig-like 137.				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.K23142T(1)|p.K23017T(1)|p.K29512T(1)|p.K23209T(1)|p.K29514T(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)			AATTGTGTATTTTCCAGCATC	0.403																																						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.(88540-88542)AAA>ACA		titin isoform N2-A							171.0	155.0	160.0					2																	179408626		1906	4128	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408626T>G	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.91322A>C	2.37:g.179408626T>G	ENSP00000465570:p.Lys30441Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K23209T|TTN_uc010zfi.1_Missense_Mutation_p.K23142T|TTN_uc010zfj.1_Missense_Mutation_p.K23017T	p.K29514T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		295	88765	-			30441					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.88541A>C		.	.	.	.	.	.	.	.	.	.	T	19.16	3.773699	0.69992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79358	0.4432	L	0.53780	1.695	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.80852	-0.1197	9	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	23017;23142;23209;30441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	29514;23017;23209;23142;23014	ENSP00000343764:K29514T;ENSP00000434586:K23017T;ENSP00000340554:K23209T;ENSP00000352154:K23142T	ENSP00000340554:K23209T	K	-	2	0	TTN	179116872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	AAA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	66	24	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425385	179425385	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179425385C>T	ENST00000591111.1	-	276	80775	c.80551G>A	c.(80551-80553)Gaa>Aaa	p.E26851K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28492K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19427K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19619K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25924K|TTN_ENST00000359218.5_Missense_Mutation_p.E19552K|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26851	Fibronectin type-III 95. {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.E19427K(1)|p.E25922K(1)|p.E19552K(1)|p.E25924K(1)|p.E19619K(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)			TGGCTTGTTTCACGTTTTTCT	0.408																																						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.(77770-77772)GAA>AAA		titin isoform N2-A							57.0	57.0	57.0					2																	179425385		1962	4149	6111	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425385C>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.80551G>A	2.37:g.179425385C>T	ENSP00000465570:p.Glu26851Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19619K|TTN_uc010zfi.1_Missense_Mutation_p.E19552K|TTN_uc010zfj.1_Missense_Mutation_p.E19427K	p.E25924K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77994	-			26851					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.77770G>A		.	.	.	.	.	.	.	.	.	.	C	17.70	3.453807	0.63290	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68137	0.2968	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.55011	0.766;0.766;0.766;0.689	T	0.69472	-0.5136	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	19427;19552;19619;26851	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25924;19427;19619;19552;19424	ENSP00000343764:E25924K;ENSP00000434586:E19427K;ENSP00000340554:E19619K;ENSP00000352154:E19552K	ENSP00000340554:E19619K	E	-	1	0	TTN	179133631	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	37	19	37	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179429955	179429955	+	Silent	SNP	G	G	A	rs539234338	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179429955G>A	ENST00000591111.1	-	276	76205	c.75981C>T	c.(75979-75981)atC>atT	p.I25327I	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.I26968I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I17903I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I18095I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I24400I|TTN_ENST00000359218.5_Silent_p.I18028I|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25327					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.I24400I(1)|p.I18095I(1)|p.I18028I(1)|p.I17903I(1)|p.I24398I(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)			TTTCTAAAACGATAACACTGA	0.428													G|||	2	0.000399361	0.0	0.0029	5008	,	,		21254	0.0		0.0	False		,,,				2504	0.0					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.(73198-73200)ATC>ATT		titin isoform N2-A							92.0	88.0	90.0					2																	179429955		1877	4111	5988	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429955G>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.75981C>T	2.37:g.179429955G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I18095I|TTN_uc010zfi.1_Silent_p.I18028I|TTN_uc010zfj.1_Silent_p.I17903I	p.I24400I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	73424	-			25327					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.73200C>T																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	62	24	62	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179430570	179430570	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179430570A>G	ENST00000591111.1	-	276	75590	c.75366T>C	c.(75364-75366)ttT>ttC	p.F25122F	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.F26763F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.F17698F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.F17890F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.F24195F|TTN_ENST00000359218.5_Silent_p.F17823F|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25122	Fibronectin type-III 82. {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.F24195F(1)|p.F17823F(1)|p.F17698F(1)|p.F24193F(1)|p.F17890F(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)			CACCAACTCCAAATTCATTTT	0.433																																						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.(72583-72585)TTT>TTC		titin isoform N2-A							201.0	189.0	192.0					2																	179430570		1940	4154	6094	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430570A>G	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.75366T>C	2.37:g.179430570A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.F17890F|TTN_uc010zfi.1_Silent_p.F17823F|TTN_uc010zfj.1_Silent_p.F17698F	p.F24195F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72809	-			25122					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.72585T>C																																																																																					PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	141	61	141	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431329	179431329	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179431329T>C	ENST00000591111.1	-	276	74831	c.74607A>G	c.(74605-74607)aaA>aaG	p.K24869K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.K26510K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.K17445K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K17637K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.K23942K|TTN_ENST00000359218.5_Silent_p.K17570K|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24869	Fibronectin type-III 81. {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.K17445K(1)|p.K17570K(1)|p.K17637K(1)|p.K23940K(1)|p.K23942K(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)			CATAGATGGGTTTACCCCAGG	0.428																																						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.(71824-71826)AAA>AAG		titin isoform N2-A							191.0	191.0	191.0					2																	179431329		1869	4102	5971	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431329T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74607A>G	2.37:g.179431329T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K17637K|TTN_uc010zfi.1_Silent_p.K17570K|TTN_uc010zfj.1_Silent_p.K17445K	p.K23942K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	72050	-			24869					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.71826A>G																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		57	103	57	103	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438046	179438046	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179438046T>C	ENST00000591111.1	-	276	68114	c.67890A>G	c.(67888-67890)aaA>aaG	p.K22630K	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Silent_p.K24271K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.K15206K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K15398K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.K21703K|TTN_ENST00000359218.5_Silent_p.K15331K|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22630	Fibronectin type-III 64. {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.K15331K(1)|p.K21701K(1)|p.K21703K(1)|p.K15206K(1)|p.K15398K(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)			TTTTGTTGCATTTAATCCAGC	0.408																																						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.(65107-65109)AAA>AAG		titin isoform N2-A							82.0	83.0	83.0					2																	179438046		1915	4135	6050	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438046T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67890A>G	2.37:g.179438046T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K15398K|TTN_uc010zfi.1_Silent_p.K15331K|TTN_uc010zfj.1_Silent_p.K15206K	p.K21703K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65333	-			22630					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.65109A>G																																																																																					PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	50	17	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463551	179463551	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179463551C>T	ENST00000591111.1	-	241	52187	c.51963G>A	c.(51961-51963)cgG>cgA	p.R17321R	TTN_ENST00000589042.1_Silent_p.R18962R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.R9897R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.R10089R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.R16394R|TTN_ENST00000359218.5_Silent_p.R10022R|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17321	Fibronectin type-III 25. {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.R10022R(1)|p.R16394R(1)|p.R10089R(1)|p.R16392R(1)|p.R9897R(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)			TTGCATATACCCGGAATTGAT	0.458																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49180-49182)CGG>CGA		titin isoform N2-A							151.0	150.0	150.0					2																	179463551		1874	4096	5970	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463551C>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.51963G>A	2.37:g.179463551C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R10089R|TTN_uc010zfi.1_Silent_p.R10022R|TTN_uc010zfj.1_Silent_p.R9897R	p.R16394R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49406	-			17321					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.49182G>A																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	109	32	109	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179466246	179466246	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179466246C>T	ENST00000591111.1	-	237	50779	c.50555G>A	c.(50554-50556)aGg>aAg	p.R16852K	TTN_ENST00000589042.1_Missense_Mutation_p.R18493K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9428K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9620K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15925K|TTN_ENST00000359218.5_Missense_Mutation_p.R9553K|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16852	Fibronectin type-III 22. {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.R15925K(2)|p.R9553K(1)|p.R9428K(1)|p.R9620K(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)			GCAACTACCCCTTGTGATATC	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47773-47775)AGG>AAG		titin isoform N2-A							195.0	181.0	185.0					2																	179466246		1894	4111	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466246C>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.50555G>A	2.37:g.179466246C>T	ENSP00000465570:p.Arg16852Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9620K|TTN_uc010zfi.1_Missense_Mutation_p.R9553K|TTN_uc010zfj.1_Missense_Mutation_p.R9428K	p.R15925K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		236	47998	-			16852					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.47774G>A		.	.	.	.	.	.	.	.	.	.	C	14.61	2.586648	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42517	0.1206	N	0.12611	0.24	0.37862	D	0.929765	B;B;B;B	0.28667	0.122;0.122;0.122;0.219	B;B;B;B	0.31946	0.079;0.079;0.079;0.138	T	0.49513	-0.8932	9	0.87932	D	0	.	19.9076	0.97013	0.0:1.0:0.0:0.0	.	9428;9553;9620;16852	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15925;9428;9620;9553;9428	ENSP00000343764:R15925K;ENSP00000434586:R9428K;ENSP00000340554:R9620K;ENSP00000352154:R9553K	ENSP00000340554:R9620K	R	-	2	0	TTN	179174491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.963000	0.63694	2.699000	0.92147	0.563000	0.77884	AGG		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	101	46	101	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179466788	179466788	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179466788C>T	ENST00000591111.1	-	234	50511	c.50287G>A	c.(50287-50289)Gga>Aga	p.G16763R	TTN_ENST00000589042.1_Missense_Mutation_p.G18404R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9339R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9531R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15836R|TTN_ENST00000359218.5_Missense_Mutation_p.G9464R|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16763	Ig-like 101.				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.G15836R(2)|p.G9339R(1)|p.G9464R(1)|p.G9531R(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)			GTTGGGCGTCCCTTGATGACA	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47506-47508)GGA>AGA		titin isoform N2-A							155.0	152.0	153.0					2																	179466788		1895	4124	6019	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466788C>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.50287G>A	2.37:g.179466788C>T	ENSP00000465570:p.Gly16763Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9531R|TTN_uc010zfi.1_Missense_Mutation_p.G9464R|TTN_uc010zfj.1_Missense_Mutation_p.G9339R	p.G15836R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		233	47730	-			16763					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.47506G>A		.	.	.	.	.	.	.	.	.	.	C	15.49	2.850090	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92782	0.7705	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93330	0.6700	9	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	9339;9464;9531;16763	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15836;9339;9531;9464;9339	ENSP00000343764:G15836R;ENSP00000434586:G9339R;ENSP00000340554:G9531R;ENSP00000352154:G9464R	ENSP00000340554:G9531R	G	-	1	0	TTN	179175033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	76	31	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479601	179479601	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179479601C>T	ENST00000591111.1	-	210	44034	c.43810G>A	c.(43810-43812)Gag>Aag	p.E14604K	TTN_ENST00000589042.1_Missense_Mutation_p.E16245K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7180K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7372K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13677K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7305K|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14604	Fibronectin type-III 5. {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.E13677K(2)|p.E7305K(1)|p.E7372K(1)|p.E7180K(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)			TGGATTTCCTCTGTGGGTCTG	0.443																																						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.(41029-41031)GAG>AAG		titin isoform N2-A							94.0	88.0	90.0					2																	179479601		1931	4133	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479601C>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.43810G>A	2.37:g.179479601C>T	ENSP00000465570:p.Glu14604Lys					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7372K|TTN_uc010zfi.1_Missense_Mutation_p.E7305K|TTN_uc010zfj.1_Missense_Mutation_p.E7180K	p.E13677K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		209	41253	-			14604					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.41029G>A		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358140	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.63	5.63	0.86233	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40694	0.1127	N	0.12663	0.25	0.53688	D	0.999976	B;B;B;B	0.21606	0.058;0.058;0.058;0.058	B;B;B;B	0.18561	0.011;0.011;0.022;0.022	T	0.31364	-0.9946	9	0.87932	D	0	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	7180;7305;7372;14604	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	13677;7180;7372;7305;7180	ENSP00000343764:E13677K;ENSP00000434586:E7180K;ENSP00000340554:E7372K;ENSP00000352154:E7305K	ENSP00000340554:E7372K	E	-	1	0	TTN	179187846	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.668000	0.83897	2.805000	0.96524	0.655000	0.94253	GAG		PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	4	10	4	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179528042	179528042	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179528042C>T	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.K12217K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA			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)			CAGGCAACTTCTTTTCTGGGA	0.378																																						uc010zfk.1																			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.(1087-1089)AAG>AAA		SubName: Full=Titin; Flags: Fragment;							84.0	95.0	92.0					2																	179528042		852	1975	2827	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528042C>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.34265-4521G>A	2.37:g.179528042C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.K363K			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		18	1637	-			11575					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.1089G>A																																																																																					PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	62	32	62	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179530162	179530162	+	Intron	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179530162G>A	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.V11995V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA			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)			TCATTTCAGGGACAACTTCTT	0.358																																						uc010zfk.1																			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.(421-423)GTC>GTT		SubName: Full=Titin; Flags: Fragment;							252.0	252.0	252.0					2																	179530162		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179530162G>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.34264+4782C>T	2.37:g.179530162G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.V141V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		10	971	-			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	Silent	SNP	ENST00000591111.1	37	c.423C>T		.	.	.	.	.	.	.	.	.	.	G	2.765	-0.257017	0.05829	.	.	ENSG00000155657	ENST00000425332	.	.	.	5.07	0.109	0.14578	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24870	-1.0148	4	.	.	.	.	3.611	0.08060	0.4475:0.0:0.2888:0.2637	.	.	.	.	F	59	.	.	S	-	2	0	TTN	179238407	0.003000	0.15002	0.089000	0.20774	0.012000	0.07955	0.184000	0.16939	0.115000	0.18071	-1.286000	0.01371	TCC		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	93	38	93	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179552937	179552937	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179552937C>T	ENST00000591111.1	-	125	31485	c.31261G>A	c.(31261-31263)Gaa>Aaa	p.E10421K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E10738K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9494K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E9494K(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)			TAACTCCATTCCTCCTCTGCA	0.403																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28480-28482)GAA>AAA		titin isoform N2-A							148.0	144.0	145.0					2																	179552937		1869	4093	5962	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179552937C>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.31261G>A	2.37:g.179552937C>T	ENSP00000465570:p.Glu10421Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6155K|TTN_uc010fre.1_Intron	p.E9494K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		124	28704	-			10421					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.28480G>A		.	.	.	.	.	.	.	.	.	.	C	13.86	2.362459	0.41902	.	.	ENSG00000155657	ENST00000342992	T	0.66099	-0.19	4.94	4.06	0.47325	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.45836	0.1362	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.87932	D	0	.	9.5735	0.39442	0.0:0.9012:0.0:0.0988	.	10421	Q8WZ42	TITIN_HUMAN	K	9494	ENSP00000343764:E9494K	ENSP00000343764:E9494K	E	-	1	0	TTN	179261182	0.047000	0.20315	1.000000	0.80357	0.865000	0.49528	0.104000	0.15313	1.218000	0.43458	0.467000	0.42956	GAA		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	50	27	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179572409	179572409	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179572409C>T	ENST00000591111.1	-	98	28158	c.27934G>A	c.(27934-27936)Gaa>Aaa	p.E9312K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E9629K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8385K|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13428	Ig-like 76.				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.E8385K(1)|p.E8385Q(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)			GGCTTTATTTCCCTGCCAGCC	0.498																																						uc010zfg.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(25153-25155)GAA>AAA		titin isoform N2-A							94.0	88.0	90.0					2																	179572409		1962	4148	6110	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572409C>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.27934G>A	2.37:g.179572409C>T	ENSP00000465570:p.Glu9312Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5046K	p.E8385K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	25377	-			9312					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.25153G>A		.	.	.	.	.	.	.	.	.	.	C	17.25	3.341724	0.61073	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.4	5.4	0.78164	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	0.78935	0.4362	L	0.53780	1.695	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.80209	-0.1477	9	0.87932	D	0	.	19.5438	0.95283	0.0:1.0:0.0:0.0	.	9312	Q8WZ42	TITIN_HUMAN	K	8385	ENSP00000343764:E8385K	ENSP00000343764:E8385K	E	-	1	0	TTN	179280654	1.000000	0.71417	0.964000	0.40570	0.527000	0.34593	7.744000	0.85034	2.692000	0.91855	0.655000	0.94253	GAA		PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	30	15	30	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576847	179576847	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179576847G>A	ENST00000591111.1	-	94	26983	c.26759C>T	c.(26758-26760)tCc>tTc	p.S8920F	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S9237F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7993F|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13065	Ig-like 72.				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.S7993F(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)			TTTATACCAGGATACCCCAAT	0.423																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(23977-23979)TCC>TTC		titin isoform N2-A							49.0	49.0	49.0					2																	179576847		1865	4104	5969	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576847G>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.26759C>T	2.37:g.179576847G>A	ENSP00000465570:p.Ser8920Phe					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4654F	p.S7993F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24202	-			8920					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.23978C>T		.	.	.	.	.	.	.	.	.	.	G	15.49	2.849716	0.51270	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85173	0.5636	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.85987	0.1486	9	0.87932	D	0	.	20.073	0.97731	0.0:0.0:1.0:0.0	.	8920	Q8WZ42	TITIN_HUMAN	F	7993	ENSP00000343764:S7993F	ENSP00000343764:S7993F	S	-	2	0	TTN	179285092	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	9.809000	0.99208	2.811000	0.96726	0.655000	0.94253	TCC		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	40	21	40	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179587235	179587235	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179587235C>T	ENST00000591111.1	-	75	21552	c.21328G>A	c.(21328-21330)Gac>Aac	p.D7110N	TTN_ENST00000589042.1_Missense_Mutation_p.D7427N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6183N|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12686	Ig-like 53.				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.D6183N(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)			TGTTCAATGTCCTTTAATTGT	0.418																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(18547-18549)GAC>AAC		titin isoform N2-A							103.0	101.0	102.0					2																	179587235		1875	4118	5993	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587235C>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.21328G>A	2.37:g.179587235C>T	ENSP00000465570:p.Asp7110Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2844N	p.D6183N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18771	-			7110					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.18547G>A		.	.	.	.	.	.	.	.	.	.	C	13.27	2.186093	0.38609	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65719	0.2718	L	0.53249	1.67	0.80722	D	1	B	0.28378	0.209	B	0.21546	0.035	T	0.64305	-0.6439	9	0.87932	D	0	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	7110	Q8WZ42	TITIN_HUMAN	N	6183	ENSP00000343764:D6183N	ENSP00000343764:D6183N	D	-	1	0	TTN	179295480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.352000	0.59404	2.821000	0.97095	0.650000	0.86243	GAC		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	68	47	68	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179594458	179594458	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179594458C>T	ENST00000591111.1	-	61	17795	c.17571G>A	c.(17569-17571)ggG>ggA	p.G5857G	TTN_ENST00000589042.1_Silent_p.G6174G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.G4930G|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 39.				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.G4930G(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)			ACACATAAGTCCCACTATTTT	0.443																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14788-14790)GGG>GGA		titin isoform N2-A							136.0	130.0	132.0					2																	179594458		1915	4145	6060	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594458C>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.17571G>A	2.37:g.179594458C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.G1591G	p.G4930G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	15014	-			5857					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.14790G>A																																																																																					PASS	0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	71	23	71	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179600793	179600793	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179600793G>C	ENST00000591111.1	-	48	13653	c.13429C>G	c.(13429-13431)Cca>Gca	p.P4477A	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P4794A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3550A|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12232					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.P3550A(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)			AAGGTTGGTGGATATGCCTCT	0.418																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10648-10650)CCA>GCA		titin isoform N2-A							49.0	48.0	48.0					2																	179600793		1894	4124	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600793G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13429C>G	2.37:g.179600793G>C	ENSP00000465570:p.Pro4477Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P211A	p.P3550A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	10872	-			4477					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.10648C>G		.	.	.	.	.	.	.	.	.	.	G	12.38	1.919462	0.33908	.	.	ENSG00000155657	ENST00000342992	T	0.67523	-0.27	5.73	5.73	0.89815	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59676	0.2211	N	0.03608	-0.345	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	T	0.71467	-0.4584	9	0.87932	D	0	.	19.8961	0.96958	0.0:0.0:1.0:0.0	.	4477	Q8WZ42	TITIN_HUMAN	A	3550	ENSP00000343764:P3550A	ENSP00000343764:P3550A	P	-	1	0	TTN	179309038	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	CCA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	49	22	49	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179605701	179605701	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179605701C>T	ENST00000591111.1	-	46	11532	c.11308G>A	c.(11308-11310)Gaa>Aaa	p.E3770K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E4087K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3724K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3916K|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E3849K			Q8WZ42	TITIN_HUMAN	titin	33933					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.E3849K(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)			TGGTTTTCTTCTGTAATTAAA	0.418																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11746-11748)GAA>AAA		titin isoform novex-2							105.0	102.0	103.0					2																	179605701		1860	4102	5962	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605701C>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.11308G>A	2.37:g.179605701C>T	ENSP00000465570:p.Glu3770Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849K|TTN_uc010zfj.1_Missense_Mutation_p.E3724K|TTN_uc002umz.1_Intron	p.E3916K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11970	-			3853					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.11746G>A		.	.	.	.	.	.	.	.	.	.	C	17.65	3.440942	0.63067	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.64260	-0.01;-0.09;-0.08	5.04	5.04	0.67666	.	.	.	.	.	T	0.55369	0.1916	L	0.29908	0.895	0.36755	D	0.882962	P;P;P	0.50443	0.935;0.935;0.935	B;B;B	0.43194	0.411;0.411;0.411	T	0.68198	-0.5472	9	0.87932	D	0	.	17.5513	0.87876	0.0:1.0:0.0:0.0	.	3724;3849;3916	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3724;3916;3849;3724	ENSP00000434586:E3724K;ENSP00000340554:E3916K;ENSP00000352154:E3849K	ENSP00000340554:E3916K	E	-	1	0	TTN	179313946	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.799000	0.47892	2.473000	0.83533	0.655000	0.94253	GAA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	79	29	79	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611958	179611958	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179611958C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E5057K|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAGTGTCTCCCCTGGGGGT	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.(15169-15171)GAG>AAG		titin isoform novex-3							63.0	67.0	66.0					2																	179611958		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611958C>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.10361-5310G>A	2.37:g.179611958C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E5057K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15393	-			1164					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.15169G>A		.	.	.	.	.	.	.	.	.	.	C	16.31	3.088176	0.55968	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59502	0.26	6.06	6.06	0.98353	.	.	.	.	.	T	0.69984	0.3172	M	0.62723	1.935	0.80722	D	1	D	0.58268	0.982	P	0.58013	0.831	T	0.66272	-0.5965	9	0.37606	T	0.19	.	17.3537	0.87330	0.0:1.0:0.0:0.0	.	5057	Q8WZ42-6	.	K	5057;371	ENSP00000354117:E5057K	ENSP00000304714:E371K	E	-	1	0	TTN	179320203	0.127000	0.22367	0.996000	0.52242	0.327000	0.28475	1.665000	0.37449	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	29	8	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179614163	179614163	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179614163C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E4322K|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCACCTGCTCTTTCTGGTCT	0.408																																						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.(12964-12966)GAG>AAG		titin isoform novex-3							78.0	83.0	81.0					2																	179614163		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614163C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3687G>A	2.37:g.179614163C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E4322K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13188	-			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.12964G>A		.	.	.	.	.	.	.	.	.	.	C	12.59	1.982825	0.34942	.	.	ENSG00000155657	ENST00000360870	T	0.58210	0.35	6.17	-1.4	0.08968	.	.	.	.	.	T	0.22704	0.0548	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26258	-1.0108	9	0.10636	T	0.68	.	7.8461	0.29426	0.0:0.2509:0.1291:0.62	.	4322	Q8WZ42-6	.	K	4322	ENSP00000354117:E4322K	ENSP00000354117:E4322K	E	-	1	0	TTN	179322408	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.069000	0.11542	-0.322000	0.08615	-1.089000	0.02181	GAG		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	50	23	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621020	179621020	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179621020C>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G3728E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3557E|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATAGTCCTTGGTCTAC	0.398																																						uc010zfh.1																			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.(10669-10671)GGA>GAA		titin isoform novex-2							179.0	173.0	175.0					2																	179621020		1918	4135	6053	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621020C>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.10303+2690G>A	2.37:g.179621020C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.G3557E	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10894	-			3571					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.10670G>A		.	.	.	.	.	.	.	.	.	.	C	15.12	2.739164	0.49045	.	.	ENSG00000155657	ENST00000342175	T	0.77750	-1.12	6.16	4.36	0.52297	.	.	.	.	.	T	0.80048	0.4552	.	.	.	0.80722	D	1	P	0.34780	0.468	P	0.44359	0.447	T	0.79976	-0.1576	8	0.87932	D	0	.	11.9973	0.53209	0.0:0.8127:0.1225:0.0648	.	3557	E7ET18	.	E	3557	ENSP00000340554:G3557E	ENSP00000340554:G3557E	G	-	2	0	TTN	179329265	1.000000	0.71417	0.779000	0.31741	0.981000	0.71138	4.530000	0.60595	0.921000	0.36994	0.650000	0.86243	GGA		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	87	27	87	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621106	179621106	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179621106C>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.K3699K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Silent_p.K3528K|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCTCTATCTTTGCACCTT	0.408																																						uc010zfh.1																			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.(10582-10584)AAG>AAA		titin isoform novex-2							105.0	100.0	102.0					2																	179621106		1889	4113	6002	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621106C>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.10303+2604G>A	2.37:g.179621106C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.K3528K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10808	-			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	Silent	SNP	ENST00000591111.1	37	c.10584G>A																																																																																					PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	52	24	52	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179632527	179632527	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179632527C>T	ENST00000591111.1	-	40	9654	c.9430G>A	c.(9430-9432)Ggc>Agc	p.G3144S	TTN_ENST00000589042.1_Missense_Mutation_p.G3144S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G3098S|TTN_ENST00000342175.6_Missense_Mutation_p.G3098S|TTN_ENST00000360870.5_Missense_Mutation_p.G3144S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3144S|TTN_ENST00000359218.5_Missense_Mutation_p.G3098S			Q8WZ42	TITIN_HUMAN	titin	13476					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.G3144S(3)|p.G3098S(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCTCTGCCTTCTACAAAG	0.433																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(9430-9432)GGC>AGC		titin isoform N2-A							131.0	132.0	131.0					2																	179632527		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179632527C>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.9430G>A	2.37:g.179632527C>T	ENSP00000465570:p.Gly3144Ser					TTN_uc010zfh.1_Missense_Mutation_p.G3098S|TTN_uc010zfi.1_Missense_Mutation_p.G3098S|TTN_uc010zfj.1_Missense_Mutation_p.G3098S|TTN_uc002unb.2_Missense_Mutation_p.G3144S	p.G3144S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		40	9654	-			3144					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.9430G>A		.	.	.	.	.	.	.	.	.	.	C	19.18	3.778511	0.70107	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	6.03	6.03	0.97812	Ribonuclease H-like (1);	.	.	.	.	T	0.23926	0.0579	M	0.69823	2.125	0.47441	D	0.999429	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;1.0	T	0.00015	-1.2394	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	3098;3098;3098;3144;3144	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	3144;3098;3098;3098;3098;3144	ENSP00000343764:G3144S;ENSP00000434586:G3098S;ENSP00000340554:G3098S;ENSP00000352154:G3098S;ENSP00000354117:G3144S	ENSP00000340554:G3098S	G	-	1	0	TTN	179340772	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	GGC		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	50	18	50	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179637867	179637867	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179637867T>A	ENST00000591111.1	-	33	8048	c.7824A>T	c.(7822-7824)gaA>gaT	p.E2608D	TTN_ENST00000589042.1_Missense_Mutation_p.E2608D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2562D|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2562D|TTN_ENST00000360870.5_Missense_Mutation_p.E2608D|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2608D|TTN_ENST00000359218.5_Missense_Mutation_p.E2562D			Q8WZ42	TITIN_HUMAN	titin	12931					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.E2562D(3)|p.E2608D(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCATATTTTCTCCCGCGT	0.279																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(7822-7824)GAA>GAT		titin isoform N2-A							49.0	53.0	51.0					2																	179637867		2202	4299	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179637867T>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.7824A>T	2.37:g.179637867T>A	ENSP00000465570:p.Glu2608Asp					TTN_uc010zfh.1_Missense_Mutation_p.E2562D|TTN_uc010zfi.1_Missense_Mutation_p.E2562D|TTN_uc010zfj.1_Missense_Mutation_p.E2562D|TTN_uc002unb.2_Missense_Mutation_p.E2608D	p.E2608D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	8048	-			2608					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.7824A>T		.	.	.	.	.	.	.	.	.	.	T	12.38	1.919718	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.59	4.43	0.53597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68961	0.3058	N	0.25789	0.76	0.22639	N	0.9989	D;D;D;D;D	0.69078	0.969;0.969;0.969;0.969;0.997	P;P;P;P;D	0.66084	0.645;0.645;0.645;0.645;0.941	T	0.59069	-0.7523	9	0.87932	D	0	.	9.339	0.38067	0.0:0.157:0.0:0.843	.	2562;2562;2562;2608;2608	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	2608;2562;2562;2562;2562;2608	ENSP00000343764:E2608D;ENSP00000434586:E2562D;ENSP00000340554:E2562D;ENSP00000352154:E2562D;ENSP00000354117:E2608D	ENSP00000340554:E2562D	E	-	3	2	TTN	179346112	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.625000	0.37029	0.948000	0.37687	0.528000	0.53228	GAA		PASS	0.279	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	28	10	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640777	179640777	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179640777G>A	ENST00000591111.1	-	28	6038	c.5814C>T	c.(5812-5814)gtC>gtT	p.V1938V	TTN_ENST00000589042.1_Silent_p.V1938V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V1892V|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Silent_p.V1892V|TTN_ENST00000360870.5_Silent_p.V1938V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V1938V|TTN_ENST00000359218.5_Silent_p.V1892V			Q8WZ42	TITIN_HUMAN	titin	12768					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.V1892V(3)|p.V1938V(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTAAGGACAGACCTAA	0.453																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(5812-5814)GTC>GTT		titin isoform N2-A							182.0	189.0	187.0					2																	179640777		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640777G>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.5814C>T	2.37:g.179640777G>A						TTN_uc010zfh.1_Silent_p.V1892V|TTN_uc010zfi.1_Silent_p.V1892V|TTN_uc010zfj.1_Silent_p.V1892V|TTN_uc002unb.2_Silent_p.V1938V|uc002unc.1_5'Flank	p.V1938V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6038	-			1938					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.5814C>T																																																																																					PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	86	45	86	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179648863	179648863	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179648863C>T	ENST00000591111.1	-	16	2933	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	TTN_ENST00000589042.1_Silent_p.G903G|TTN_ENST00000460472.2_Silent_p.G857G|TTN_ENST00000342175.6_Silent_p.G857G|TTN_ENST00000360870.5_Silent_p.G903G|TTN_ENST00000342992.6_Silent_p.G903G|TTN_ENST00000359218.5_Silent_p.G857G			Q8WZ42	TITIN_HUMAN	titin	33940					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.G857G(3)|p.G903G(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGCTCACCCCTACTTCCT	0.552																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2707-2709)GGG>GGA		titin isoform N2-A							164.0	129.0	141.0					2																	179648863		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648863C>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.2709G>A	2.37:g.179648863C>T						TTN_uc010zfh.1_Silent_p.G857G|TTN_uc010zfi.1_Silent_p.G857G|TTN_uc010zfj.1_Silent_p.G857G|TTN_uc002unb.2_Silent_p.G903G	p.G903G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2933	-			903					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.2709G>A																																																																																					PASS	0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	40	20	40	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179665191	179665191	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179665191C>T	ENST00000591111.1	-	4	738	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	TTN_ENST00000589042.1_Missense_Mutation_p.G172R|TTN_ENST00000460472.2_Missense_Mutation_p.G172R|TTN_ENST00000342175.6_Missense_Mutation_p.G172R|TTN_ENST00000360870.5_Missense_Mutation_p.G172R|TTN_ENST00000342992.6_Missense_Mutation_p.G172R|TTN_ENST00000359218.5_Missense_Mutation_p.G172R			Q8WZ42	TITIN_HUMAN	titin	32791	Ig-like 2.				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.G172R(6)		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)			GAATAGGTCCCTGAGTCCTCA	0.488																																						uc002und.2																			6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(514-516)GGG>AGG		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							161.0	161.0	161.0					2																	179665191		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179665191C>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.514G>A	2.37:g.179665191C>T	ENSP00000465570:p.Gly172Arg					TTN_uc010zfg.1_Missense_Mutation_p.G172R|TTN_uc010zfh.1_Missense_Mutation_p.G172R|TTN_uc010zfi.1_Missense_Mutation_p.G172R|TTN_uc010zfj.1_Missense_Mutation_p.G172R|TTN_uc002unb.2_Missense_Mutation_p.G172R	p.G172R			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		4	739	-			172					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.514G>A		.	.	.	.	.	.	.	.	.	.	C	15.39	2.820760	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	6.04	5.16	0.70880	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96747	0.8938	H	0.99487	4.59	0.44736	D	0.997733	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.98874	1.0767	9	0.87932	D	0	.	16.787	0.85576	0.1299:0.8701:0.0:0.0	.	172;172;172;172;172	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	172	ENSP00000343764:G172R;ENSP00000434586:G172R;ENSP00000340554:G172R;ENSP00000352154:G172R;ENSP00000354117:G172R	ENSP00000340554:G172R	G	-	1	0	TTN	179373436	1.000000	0.71417	0.415000	0.26534	0.960000	0.62799	7.818000	0.86416	1.551000	0.49450	0.563000	0.77884	GGG		PASS	0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	73	50	73	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179702390	179702390	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179702390C>T	ENST00000420890.2	-	23	3673	c.3556G>A	c.(3556-3558)Gac>Aac	p.D1186N	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.D611N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1186								p.D611N(1)|p.D1186N(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)			CCCTCCTTGTCAGTGGACACC	0.532																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1831-1833)GAC>AAC		coiled-coil domain containing 141							95.0	93.0	93.0					2																	179702390		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179702390C>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.3556G>A	2.37:g.179702390C>T	ENSP00000395995:p.Asp1186Asn					CCDC141_uc002une.1_Missense_Mutation_p.D61N	p.D611N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	1888	-			611					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1831G>A		.	.	.	.	.	.	.	.	.	.	C	12.45	1.941071	0.34283	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.47869	0.83;1.42;1.42	5.67	3.53	0.40419	.	0.824315	0.10539	N	0.662963	T	0.31857	0.0810	L	0.27053	0.805	0.09310	N	1	P;B	0.34546	0.456;0.157	B;B	0.26416	0.069;0.069	T	0.06162	-1.0842	10	0.20519	T	0.43	2.6041	12.4284	0.55561	0.0:0.8042:0.1221:0.0737	.	611;611	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	N	1186;630;611	ENSP00000395995:D1186N;ENSP00000344627:D630N;ENSP00000295723:D611N	ENSP00000295723:D611N	D	-	1	0	CCDC141	179410635	0.884000	0.30299	0.007000	0.13788	0.005000	0.04900	0.483000	0.22292	1.378000	0.46305	-0.314000	0.08810	GAC		PASS	0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		30	52	30	52	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179733849	179733849	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179733849C>T	ENST00000420890.2	-	15	2506	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E222K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	797								p.E222K(1)|p.E797K(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)			CTTACCTCTTCCTTGACTTGA	0.353																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(664-666)GAA>AAA		coiled-coil domain containing 141							173.0	157.0	162.0					2																	179733849		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179733849C>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.2389G>A	2.37:g.179733849C>T	ENSP00000395995:p.Glu797Lys						p.E222K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	721	-			222					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	22.3	4.275992	0.80580	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.48201	0.82;1.42;1.42;1.43	5.49	5.49	0.81192	.	0.098719	0.44285	D	0.000463	T	0.50820	0.1638	N	0.19112	0.55	0.35643	D	0.811132	D	0.63046	0.992	P	0.62560	0.904	T	0.54708	-0.8253	10	0.27785	T	0.31	-8.4263	16.6415	0.85128	0.0:1.0:0.0:0.0	.	222	Q6ZP82	CC141_HUMAN	K	797;241;222;797	ENSP00000395995:E797K;ENSP00000344627:E241K;ENSP00000295723:E222K;ENSP00000390190:E797K	ENSP00000295723:E222K	E	-	1	0	CCDC141	179442094	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.036000	0.49767	2.718000	0.92993	0.655000	0.94253	GAA		PASS	0.353	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		22	42	22	42	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179736944	179736944	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:179736944G>A	ENST00000420890.2	-	13	2112	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	CCDC141_ENST00000295723.5_Silent_p.L90L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	665								p.L90L(2)|p.L665L(2)		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)			CCAGCCGAAGGAGGCTAAGTT	0.458																																						uc002unf.1																			4	Substitution - coding silent(4)		lung(4)	ovary(7)|pancreas(2)|skin(1)	10						c.(268-270)CTC>CTT		coiled-coil domain containing 141							153.0	129.0	137.0					2																	179736944		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179736944G>A	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.1995C>T	2.37:g.179736944G>A							p.L90L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		3	327	-			90			Potential.		H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.270C>T																																																																																					PASS	0.458	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		11	30	11	30	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183593710	183593710	+	Missense_Mutation	SNP	C	C	T	rs372451587		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:183593710C>T	ENST00000264065.7	+	7	1037	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	DNAJC10_ENST00000537515.1_Missense_Mutation_p.R208W	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	208	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.R208W(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTCATTTTTCGGTCTGGAAT	0.363																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(622-624)CGG>TGG		DnaJ (Hsp40) homolog, subfamily C, member 10							112.0	109.0	110.0					2																	183593710		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183593710C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.622C>T	2.37:g.183593710C>T	ENSP00000264065:p.Arg208Trp					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.R208W|DNAJC10_uc010fro.1_RNA	p.R208W	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	1037	+			208			Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.622C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504190	0.64410	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	T;T	0.43688	0.94;0.94	6.17	5.03	0.67393	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.184247	0.64402	D	0.000019	T	0.64940	0.2644	M	0.87547	2.89	0.45930	D	0.998768	D;D	0.89917	1.0;0.999	P;P	0.59761	0.863;0.663	T	0.71748	-0.4499	10	0.72032	D	0.01	.	13.6253	0.62161	0.8652:0.1347:0.0:0.0	.	208;208	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	W	208	ENSP00000264065:R208W;ENSP00000441560:R208W	ENSP00000264065:R208W	R	+	1	2	DNAJC10	183301955	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	4.648000	0.61425	1.162000	0.42619	-0.262000	0.10625	CGG		PASS	0.363	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		21	36	21	36	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183841674	183841674	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:183841674C>T	ENST00000361354.4	-	15	1801	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	NCKAP1_ENST00000360982.2_Missense_Mutation_p.D483N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	477					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.D483Y(1)|p.D483N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCCCCATCTTCAACTGTA	0.264																																						uc002upc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1429-1431)GAT>AAT		NCK-associated protein 1 isoform 1							50.0	50.0	50.0					2																	183841674		2177	4278	6455	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183841674C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1429G>A	2.37:g.183841674C>T	ENSP00000355348:p.Asp477Asn					NCKAP1_uc002upb.2_Missense_Mutation_p.D483N	p.D477N	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	1831	-			477					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1429G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586907	0.46110	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.28895	1.59;1.59	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	B;B	0.22746	0.074;0.06	B;B	0.23150	0.044;0.026	T	0.08638	-1.0712	10	0.06625	T	0.88	-16.4316	19.2898	0.94093	0.0:1.0:0.0:0.0	.	477;483	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	N	477;483	ENSP00000355348:D477N;ENSP00000354251:D483N	ENSP00000354251:D483N	D	-	1	0	NCKAP1	183549919	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.758000	0.85224	2.558000	0.86282	0.313000	0.20887	GAT		PASS	0.264	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		6	12	6	12	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803648	185803648	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:185803648C>T	ENST00000302277.6	+	4	4119	c.3525C>T	c.(3523-3525)tcC>tcT	p.S1175S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1175							metal ion binding (GO:0046872)	p.S1175S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCAGCTTCCGTTCTTCATC	0.512																																						uc002uph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3523-3525)TCC>TCT		zinc finger protein 804A							256.0	222.0	233.0					2																	185803648		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803648C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3525C>T	2.37:g.185803648C>T							p.S1175S	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	4119	+			1175					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3525C>T	CCDS2291.1																																																																																				PASS	0.512	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		28	80	28	80	---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188247996	188247997	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:188247996_188247997CC>TA	ENST00000409998.1	-	6	868_869	c.87_88GG>TA	c.(85-90)gaGGac>gaTAac	p.29_30ED>DN	CALCRL_ENST00000410068.1_Missense_Mutation_p.29_30ED>DN|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.29_30ED>DN			Q16602	CALRL_HUMAN	calcitonin receptor-like	29					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.D30N(1)|p.E29_D30>DN(1)|p.E29D(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGAATTGAGTCCTCAGGACTCT	0.337																																						uc002upv.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	lung(3)|ovary(1)	4						c.(88-90)GAC>AAC|c.(85-87)GAG>GAT		calcitonin receptor-like precursor																																				SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188247996C>T|g.chr2:188247997C>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.87_88delinsTA	2.37:g.188247996_188247997delinsTA	ENSP00000386972:p.E29_D30delinsDN					CALCRL_uc010frt.2_Missense_Mutation_p.D30N|CALCRL_uc010frt.2_Missense_Mutation_p.E29D	p.D30N|p.E29D	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		5	636|635	-			30|29			Extracellular (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.88G>A|c.87G>T	CCDS2293.1																																																																																				PASS	0.337	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		12	17	12	17	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189852823	189852823	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:189852823C>T	ENST00000304636.3	+	6	715	c.545C>T	c.(544-546)cCc>cTc	p.P182L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P182L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	182	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P182L(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCAGGCCCTCCCGGTCCCCCT	0.398																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(544-546)CCC>CTC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						86.0	91.0	90.0					2																	189852823		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189852823C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.545C>T	2.37:g.189852823C>T	ENSP00000304408:p.Pro182Leu						p.P182L	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		6	662	+			182			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.545C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878583	0.17395	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93247	-3.19;-3.19	5.43	5.43	0.79202	.	0.000000	0.49305	D	0.000147	D	0.93367	0.7885	M	0.85542	2.76	0.52501	D	0.999955	P	0.39717	0.684	B	0.37780	0.258	D	0.92429	0.5952	10	0.33141	T	0.24	.	15.6887	0.77434	0.0:0.8628:0.1372:0.0	.	182	P02461	CO3A1_HUMAN	L	182	ENSP00000304408:P182L;ENSP00000315243:P182L	ENSP00000304408:P182L	P	+	2	0	COL3A1	189561068	0.233000	0.23772	0.979000	0.43373	0.984000	0.73092	2.457000	0.45005	2.830000	0.97506	0.585000	0.79938	CCC		PASS	0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	14	7	14	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189854873	189854873	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:189854873C>T	ENST00000304636.3	+	9	912	c.742C>T	c.(742-744)Cca>Tca	p.P248S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P248S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	248	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P248S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GCCTGGACCTCCAGTGAGTCT	0.368																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(742-744)CCA>TCA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						60.0	63.0	62.0					2																	189854873		2202	4299	6501	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189854873C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.742C>T	2.37:g.189854873C>T	ENSP00000304408:p.Pro248Ser					COL3A1_uc010frw.1_5'Flank	p.P248S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	859	+			248			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.742C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714278	0.48622	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.98649	-5.05;-5.05	5.68	3.87	0.44632	.	0.130922	0.34700	N	0.003743	D	0.96485	0.8853	L	0.46670	1.46	0.49051	D	0.999742	B	0.11235	0.004	B	0.12837	0.008	D	0.93720	0.7032	10	0.41790	T	0.15	.	10.2954	0.43620	0.0:0.7939:0.1348:0.0713	.	248	P02461	CO3A1_HUMAN	S	248	ENSP00000304408:P248S;ENSP00000315243:P248S	ENSP00000304408:P248S	P	+	1	0	COL3A1	189563118	1.000000	0.71417	0.992000	0.48379	0.745000	0.42441	2.605000	0.46283	0.846000	0.35142	-0.282000	0.10007	CCA		PASS	0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		11	26	11	26	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189870103	189870103	+	Missense_Mutation	SNP	G	G	A	rs587779583		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:189870103G>A	ENST00000304636.3	+	41	3129	c.2959G>A	c.(2959-2961)Ggt>Agt	p.G987S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	987	Triple-helical region.			ANGLS -> PSGQN (in Ref. 22; AA sequence). {ECO:0000305}.	aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G987S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGAGCTAACGGTCTCAGTGG	0.438																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2959-2961)GGT>AGT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						114.0	117.0	116.0					2																	189870103		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189870103G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2959G>A	2.37:g.189870103G>A	ENSP00000304408:p.Gly987Ser						p.G987S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		41	3076	+			987	ANGLS -> PSGQN (in Ref. 20; AA sequence).		Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2959G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273819	0.95459	.	.	ENSG00000168542	ENST00000304636	D	0.99607	-6.27	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000069	D	0.99825	0.9922	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96785	0.9578	10	0.87932	D	0	.	19.4039	0.94641	0.0:0.0:1.0:0.0	.	987	P02461	CO3A1_HUMAN	S	987	ENSP00000304408:G987S	ENSP00000304408:G987S	G	+	1	0	COL3A1	189578348	1.000000	0.71417	0.361000	0.25849	0.858000	0.48976	9.869000	0.99810	2.586000	0.87340	0.650000	0.86243	GGT		PASS	0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		25	53	25	53	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190922314	190922314	+	Silent	SNP	C	C	T	rs35791082	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:190922314C>T	ENST00000260950.4	-	3	930	c.798G>A	c.(796-798)agG>agA	p.R266R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	266					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R266R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GACCAAAATCCCTTCTGGATC	0.408													C|||	9	0.00179712	0.0068	0.0	5008	,	,		18341	0.0		0.0	False		,,,				2504	0.0					uc002urp.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(796-798)AGG>AGA		myostatin precursor		C		26,4380	32.6+/-62.9	0,26,2177	97.0	84.0	88.0		798	4.4	1.0	2	dbSNP_126	88	0,8598		0,0,4299	no	coding-synonymous	MSTN	NM_005259.2		0,26,6476	TT,TC,CC		0.0,0.5901,0.1999		266/376	190922314	26,12978	2203	4299	6502	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922314C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.798G>A	2.37:g.190922314C>T							p.R266R	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	931	-			266					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.798G>A	CCDS2303.1																																																																																				PASS	0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		16	39	16	39	---	---	---	---
NAB1	4664	broad.mit.edu	37	2	191524442	191524442	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:191524442C>T	ENST00000337386.5	+	4	1001	c.540C>T	c.(538-540)tcC>tcT	p.S180S	NAB1_ENST00000409641.1_Silent_p.S180S|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000409581.1_Silent_p.S180S|NAB1_ENST00000357215.5_Silent_p.S180S	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	180					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S180S(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			ACCTGGGCTCCCCCGCGTCCC	0.632																																						uc002usb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(538-540)TCC>TCT		NGFI-A binding protein 1							33.0	35.0	35.0					2																	191524442		2203	4300	6503	SO:0001819	synonymous_variant	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524442C>T		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.540C>T	2.37:g.191524442C>T						NAB1_uc010fsc.2_Silent_p.S180S|NAB1_uc010fsd.2_Silent_p.S180S|NAB1_uc002usc.2_Silent_p.S180S|NAB1_uc010zgh.1_Silent_p.S180S	p.S180S	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	1112	+			180					O75383|O75384|Q6GTU1|Q9UEV1	Silent	SNP	ENST00000337386.5	37	c.540C>T	CCDS2307.1																																																																																				PASS	0.632	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		10	8	10	8	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	192011344	192011345	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:192011344_192011345GG>AA	ENST00000392320.2	-	3	581_582	c.267_268CC>TT	c.(265-270)gtCCtt>gtTTtt	p.L90F	STAT4_ENST00000358470.4_Missense_Mutation_p.L90F|STAT4_ENST00000409995.1_Missense_Mutation_p.L90F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	90					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L90F(2)|p.V89V(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTTACCTGAAGGACCTTCCTAA	0.282																																						uc002usm.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(268-270)CTT>TTT|c.(265-267)GTC>GTT		signal transducer and activator of transcription																																				SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:192011344G>A|g.chr2:192011345G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.267_268delinsAA	2.37:g.192011344_192011345delinsAA	ENSP00000376134:p.Leu90Phe					STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.L90F|STAT4_uc002uso.2_Missense_Mutation_p.L90F|STAT4_uc002usp.3_Missense_Mutation_p.L90F|STAT4_uc010zgl.1_Missense_Mutation_p.L90F|STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Silent_p.V89V|STAT4_uc002uso.2_Silent_p.V89V|STAT4_uc002usp.3_Silent_p.V89V|STAT4_uc010zgl.1_Silent_p.V89V	p.L90F|p.V89V	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		3	522|521	-			90|89					Q96NZ6	Missense_Mutation|Silent	SNP	ENST00000392320.2	37	c.268C>T|c.267C>T	CCDS2310.1																																																																																				PASS	0.282	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		8	18|17	8	17	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196671473	196671473	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:196671473C>T	ENST00000312428.6	-	54	10267	c.10167G>A	c.(10165-10167)agG>agA	p.R3389R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3389					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.R3389R(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						CCTTGTCTGGCCTCAAGCAAC	0.408																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(10165-10167)AGG>AGA		dynein, axonemal, heavy chain 7							128.0	116.0	120.0					2																	196671473		1890	4122	6012	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196671473C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10167G>A	2.37:g.196671473C>T							p.R3389R	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			54	10268	-			3389					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.10167G>A	CCDS42794.1																																																																																				PASS	0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	19	11	19	---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198570720	198570720	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:198570720C>T	ENST00000282276.6	+	1	634	c.591C>T	c.(589-591)ctC>ctT	p.L197L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	197					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.L197L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGTATCTCTCGAGAGCGGGC	0.587																																						uc002uuq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)CTC>CTT		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						44.0	51.0	49.0					2																	198570720		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570720C>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.591C>T	2.37:g.198570720C>T						uc002uup.2_Intron	p.L197L	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	634	+			197					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.591C>T	CCDS33358.1																																																																																				PASS	0.587	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		16	27	16	27	---	---	---	---
BOLL	66037	broad.mit.edu	37	2	198640396	198640396	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:198640396C>T	ENST00000392296.4	-	5	654	c.345G>A	c.(343-345)ggG>ggA	p.G115G	BOLL_ENST00000430004.1_Silent_p.G115G|BOLL_ENST00000433157.1_Silent_p.G115G|BOLL_ENST00000321801.7_Silent_p.G127G|BOLL_ENST00000282278.8_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	115					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.G115G(1)|p.G127G(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TACGAGGGATCCCTACTTGTT	0.249																																						uc002uus.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(343-345)GGG>GGA		boule isoform 2							82.0	88.0	86.0					2																	198640396		2201	4282	6483	SO:0001819	synonymous_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198640396C>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.345G>A	2.37:g.198640396C>T						BOLL_uc002uur.2_Silent_p.G121G|BOLL_uc002uut.2_Silent_p.G127G|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Silent_p.G121G	p.G115G	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			5	655	-			115					B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	ENST00000392296.4	37	c.345G>A	CCDS2325.1																																																																																				PASS	0.249	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		7	38	7	38	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198948736	198948736	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:198948736G>A	ENST00000428675.1	+	2	893	c.495G>A	c.(493-495)gaG>gaA	p.E165E	PLCL1_ENST00000437704.2_Silent_p.E67E	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E67E(1)|p.E165E(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATAAAAGAGATCAGACTGG	0.453																																						uc010fsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(493-495)GAG>GAA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						95.0	102.0	100.0					2																	198948736		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948736G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.495G>A	2.37:g.198948736G>A						PLCL1_uc002uuv.3_Silent_p.E86E	p.E165E	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	786	+			165			PH.|Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.495G>A	CCDS2326.2																																																																																				PASS	0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		21	61	21	61	---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202519625	202519626	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:202519625_202519626CC>TT	ENST00000409474.3	-	18	1522_1523	c.1315_1316GG>AA	c.(1315-1317)GGa>AAa	p.G439K	MPP4_ENST00000409143.1_Missense_Mutation_p.G381K|MPP4_ENST00000359962.5_Missense_Mutation_p.G439K|MPP4_ENST00000396886.3_Missense_Mutation_p.G364K|MPP4_ENST00000428900.2_Missense_Mutation_p.G415K|MPP4_ENST00000447335.2_Missense_Mutation_p.G432K|MPP4_ENST00000315506.7_Missense_Mutation_p.G395K	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	439	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.G439R(2)|p.G439K(2)|p.G439E(2)		kidney(1)|lung(11)	12						CTCATTTACTCCAACACCAGAG	0.356																																						uc002uyk.3																			6	Substitution - Missense(6)		lung(6)		0						c.(1315-1317)GGA>GAA|c.(1315-1317)GGA>AGA		membrane protein, palmitoylated 4																																				SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202519625C>T|g.chr2:202519626C>T	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1315_1316delinsTT	2.37:g.202519625_202519626delinsTT	ENSP00000387278:p.Gly439Lys					MPP4_uc002uyi.3_Missense_Mutation_p.G57E|MPP4_uc010ftj.2_Missense_Mutation_p.G432E|MPP4_uc010zhq.1_Missense_Mutation_p.G408E|MPP4_uc010zhr.1_Missense_Mutation_p.G415E|MPP4_uc010zhs.1_Missense_Mutation_p.G364E|MPP4_uc002uyj.3_Missense_Mutation_p.G404E|MPP4_uc010zht.1_Missense_Mutation_p.G381E|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G395E|MPP4_uc002uyi.3_Missense_Mutation_p.G57R|MPP4_uc010ftj.2_Missense_Mutation_p.G432R|MPP4_uc010zhq.1_Missense_Mutation_p.G408R|MPP4_uc010zhr.1_Missense_Mutation_p.G415R|MPP4_uc010zhs.1_Missense_Mutation_p.G364R|MPP4_uc002uyj.3_Missense_Mutation_p.G404R|MPP4_uc010zht.1_Missense_Mutation_p.G381R|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G395R	p.G439E|p.G439R	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			18	1524|1523	-			439			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1316G>A|c.1315G>A	CCDS46491.1																																																																																				PASS	0.356	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			5|6	23|22	5	22	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202593787	202593787	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:202593787G>T	ENST00000264276.6	-	14	3072	c.2700C>A	c.(2698-2700)ccC>ccA	p.P900P	ALS2_ENST00000457679.2_Silent_p.P212P	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	900					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.P900P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCATTTTTCCGGGGAAGGTCT	0.443																																						uc002uyo.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(2698-2700)CCC>CCA		alsin isoform 1							174.0	165.0	168.0					2																	202593787		1876	4108	5984	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202593787G>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2700C>A	2.37:g.202593787G>T						ALS2_uc002uyp.3_Silent_p.P900P|ALS2_uc010ftl.2_RNA	p.P900P	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			14	3056	-			900					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.2700C>A	CCDS42800.1																																																																																				PASS	0.443	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	102	5	102	---	---	---	---
CARF	79800	broad.mit.edu	37	2	203847162	203847162	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:203847162T>A	ENST00000402905.3	+	15	2378	c.2057T>A	c.(2056-2058)cTt>cAt	p.L686H	CARF_ENST00000414439.1_Missense_Mutation_p.L584H|CARF_ENST00000438828.2_Missense_Mutation_p.L686H|CARF_ENST00000545253.1_Missense_Mutation_p.L598H|CARF_ENST00000320443.8_Missense_Mutation_p.L686H|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.L610H|CARF_ENST00000545262.1_Missense_Mutation_p.L610H	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	686					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L686H(1)									CACTCAGCTCTTAGTAAGTTG	0.353																																						uc002uzo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2056-2058)CTT>CAT		amyotrophic lateral sclerosis 2 (juvenile)							92.0	92.0	92.0					2																	203847162		1857	4090	5947	SO:0001583	missense	79800							g.chr2:203847162T>A	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.2057T>A	2.37:g.203847162T>A	ENSP00000384006:p.Leu686His					ALS2CR8_uc010zia.1_Missense_Mutation_p.L610H|ALS2CR8_uc010zib.1_Missense_Mutation_p.L610H|ALS2CR8_uc010zic.1_Missense_Mutation_p.L598H|ALS2CR8_uc002uzp.2_Missense_Mutation_p.L686H	p.L686H	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN			15	2337	+			686					B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	c.2057T>A	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375056	0.82682	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.42	5.42	0.78866	.	0.113830	0.39615	N	0.001302	T	0.69637	0.3133	L	0.58101	1.795	0.41524	D	0.988412	D;D;D	0.69078	0.997;0.997;0.992	P;D;P	0.63192	0.863;0.912;0.863	T	0.73613	-0.3927	9	0.87932	D	0	-8.8258	13.1921	0.59717	0.0:0.0:0.0:1.0	.	598;610;686	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	H	686;584;610;598;610;686;686	.	ENSP00000316224:L686H	L	+	2	0	ALS2CR8	203555407	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.889000	0.63171	2.050000	0.60909	0.533000	0.62120	CTT		PASS	0.353	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		28	52	28	52	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206480410	206480411	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:206480410_206480411CC>TT	ENST00000406610.2	+	23	3698_3699	c.3491_3492CC>TT	c.(3490-3492)cCC>cTT	p.P1164L	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1063L|PARD3B_ENST00000351153.1_Missense_Mutation_p.P1095L|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1102L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1164					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.P1095L(2)|p.P1103L(2)|p.P1102L(2)|p.P1102P(1)|p.P1095P(1)|p.P1103P(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCTTCCCCTCCCCAGCACCAAA	0.629																																						uc002var.1																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	skin(2)|ovary(1)|breast(1)	4						c.(3490-3492)CCC>CTC|c.(3490-3492)CCC>CCT		par-3 partitioning defective 3 homolog B isoform																																				SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480410C>T|g.chr2:206480411C>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	Exception_encountered	2.37:g.206480410_206480411delinsTT	ENSP00000385848:p.Pro1164Leu					PARD3B_uc002vao.1_Missense_Mutation_p.P1063L|PARD3B_uc002vap.1_Missense_Mutation_p.P1102L|PARD3B_uc002vaq.1_Missense_Mutation_p.P1095L|uc010fuc.1_5'Flank|PARD3B_uc002vao.1_Silent_p.P1063P|PARD3B_uc002vap.1_Silent_p.P1102P|PARD3B_uc002vaq.1_Silent_p.P1095P|uc010fuc.1_5'Flank	p.P1164L|p.P1164P	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3698|3699	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1164					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation|Silent	SNP	ENST00000406610.2	37	c.3491C>T|c.3492C>T																																																																																					PASS	0.629	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		17	49	17	49	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208841613	208841613	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:208841613G>A	ENST00000427836.2	-	3	1797	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	PLEKHM3_ENST00000389247.4_Silent_p.L436L|PLEKHM3_ENST00000457206.1_Silent_p.L436L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	436	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.L436L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCAGCTCGGAGGCGAAGGA	0.547																																						uc002vcl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1306-1308)CTC>CTT		pleckstrin homology domain containing, family M,							61.0	62.0	61.0					2																	208841613		1989	4171	6160	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208841613G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1308C>T	2.37:g.208841613G>A						PLEKHM3_uc002vcm.2_Silent_p.L436L	p.L436L	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			3	1798	-			436			PH 2.		B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1308C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	6.648	0.487972	0.12641	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.82	-1.15	0.09709	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29882	-0.9997	4	.	.	.	.	4.098	0.10000	0.2223:0.4765:0.2055:0.0957	.	.	.	.	S	188	.	.	P	-	1	0	PLEKHM3	208549858	0.999000	0.42202	0.999000	0.59377	0.800000	0.45204	0.645000	0.24782	0.071000	0.16664	-0.176000	0.13171	CCG		PASS	0.547	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		14	26	14	26	---	---	---	---
UNC80	285175	broad.mit.edu	37	2	210642019	210642019	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:210642019C>T	ENST00000439458.1	+	4	416	c.336C>T	c.(334-336)ctC>ctT	p.L112L	UNC80_ENST00000272845.6_Silent_p.L112L|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L112L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGACAAAGCTCCTTCACACTC	0.532																																						uc010zjc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(334-336)CTC>CTT		chromosome 2 open reading frame 21 isoform 1							69.0	75.0	73.0					2																	210642019		2203	4300	6503	SO:0001819	synonymous_variant	285175					integral to membrane		g.chr2:210642019C>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.336C>T	2.37:g.210642019C>T						UNC80_uc002vdj.1_Silent_p.L112L	p.L112L	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	416	+			112					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	ENST00000439458.1	37	c.336C>T	CCDS46504.1																																																																																				PASS	0.532	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		28	49	28	49	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211513227	211513227	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:211513227G>A	ENST00000233072.5	+	27	3563	c.3367G>A	c.(3367-3369)Gac>Aac	p.D1123N	CPS1_ENST00000451903.2_Missense_Mutation_p.D672N|CPS1_ENST00000430249.2_Missense_Mutation_p.D1129N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1123	ATP-grasp 2.				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.D1123N(1)|p.D1129N(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)	AAAGTCTGTGGACTACCCCTG	0.323																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3367-3369)GAC>AAC		carbamoyl-phosphate synthetase 1 isoform b							165.0	156.0	159.0					2																	211513227		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.chr2:211513227G>A	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.3367G>A	2.37:g.211513227G>A	ENSP00000233072:p.Asp1123Asn					CPS1_uc010fur.2_Missense_Mutation_p.D1129N|CPS1_uc010fus.2_Missense_Mutation_p.D672N	p.D1123N	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)	27	3499	+			1123			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3367G>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099576	0.56183	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.96992	-4.2;-4.2;-4.2	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.090442	0.85682	D	0.000000	D	0.92182	0.7521	N	0.19112	0.55	0.29413	N	0.86111	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	D	0.86630	0.1885	10	0.72032	D	0.01	-1.7372	13.4868	0.61371	0.1092:0.0:0.8908:0.0	.	1133;1123	Q59HF8;P31327	.;CPSM_HUMAN	N	1129;1131;1123;672	ENSP00000402608:D1129N;ENSP00000233072:D1123N;ENSP00000406136:D672N	ENSP00000233072:D1123N	D	+	1	0	CPS1	211221472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.981000	0.63819	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.323	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			21	42	21	42	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212285228	212285228	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:212285228G>A	ENST00000342788.4	-	25	3383	c.3073C>T	c.(3073-3075)Cct>Tct	p.P1025S	ERBB4_ENST00000436443.1_Missense_Mutation_p.P1025S|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1015S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1025					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.P1025S(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)	AAAGCCTGAGGGACCAAGTAC	0.403										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.(3073-3075)CCT>TCT		v-erb-a erythroblastic leukemia viral oncogene							102.0	93.0	96.0					2																	212285228		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.chr2:212285228G>A	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.3073C>T	2.37:g.212285228G>A	ENSP00000342235:p.Pro1025Ser	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.P1025S|ERBB4_uc010zji.1_Missense_Mutation_p.P1015S|ERBB4_uc010zjj.1_Missense_Mutation_p.P1015S	p.P1025S	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)	25	3171	-		Renal(323;0.06)|Lung NSC(271;0.197)	1025			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.3073C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875695	0.91664	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.77489	-1.08;-1.08;-1.1	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	N	0.08118	0	0.80722	D	1	B;B;B;B	0.26081	0.141;0.004;0.141;0.087	B;B;B;B	0.26202	0.067;0.009;0.067;0.03	T	0.64313	-0.6437	10	0.72032	D	0.01	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1015;1015;1025;1025	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	S	1025;1025;1015	ENSP00000342235:P1025S;ENSP00000403204:P1025S;ENSP00000385565:P1015S	ENSP00000342235:P1025S	P	-	1	0	ERBB4	211993473	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.830000	0.99415	2.780000	0.95670	0.655000	0.94253	CCT		PASS	0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		15	19	15	19	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214878802	214878802	+	Splice_Site	SNP	G	G	A	rs148142146		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:214878802G>A	ENST00000331683.5	+	13	1622		c.e13+1		SPAG16_ENST00000374309.3_Splice_Site	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.?(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCAAGAACAGTAAGCAAATC	0.383																																						uc002veq.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e13+1		sperm associated antigen 16 isoform 1		G		0,4406		0,0,2203	147.0	143.0	144.0			5.0	0.9	2	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	SPAG16	NM_024532.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			214878802	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214878802G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1527+1G>A	2.37:g.214878802G>A						SPAG16_uc010fuz.1_Splice_Site_p.T360_splice|SPAG16_uc002ver.2_Splice_Site_p.T455_splice|SPAG16_uc010zjk.1_Splice_Site_p.T415_splice	p.T509_splice	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	13	1619	+		Renal(323;0.00461)						Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Splice_Site	SNP	ENST00000331683.5	37	c.1527_splice	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187156	0.78789	0.0	1.16E-4	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6785	0.91539	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG16	214587047	1.000000	0.71417	0.925000	0.36789	0.889000	0.51656	7.574000	0.82434	2.448000	0.82819	0.655000	0.94253	.		PASS	0.383	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	Intron	23	41	23	41	---	---	---	---
VWC2L	402117	broad.mit.edu	37	2	215279217	215279217	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:215279217G>A	ENST00000312504.5	+	2	1102	c.300G>A	c.(298-300)gtG>gtA	p.V100V	VWC2L_ENST00000427124.1_Silent_p.V100V|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	100	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.V100V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GTACTAAAGTGGAACACAATG	0.413																																						uc002vet.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)GTG>GTA		von Willebrand factor C domain-containing							64.0	61.0	62.0					2																	215279217		1882	4110	5992	SO:0001819	synonymous_variant	402117					extracellular region		g.chr2:215279217G>A	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.300G>A	2.37:g.215279217G>A						VWC2L_uc010zjl.1_Silent_p.V100V	p.V100V	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			2	430	+			100			VWFC 1.		A6NC69|B2RUW7|B7X8X1	Silent	SNP	ENST00000312504.5	37	c.300G>A	CCDS46509.1																																																																																				PASS	0.413	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		9	30	9	30	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215831648	215831648	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:215831648G>A	ENST00000272895.7	-	39	6027	c.5808C>T	c.(5806-5808)tcC>tcT	p.S1936S	ABCA12_ENST00000389661.4_Silent_p.S1618S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1936					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.S1936S(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)		AAGCTGGAAGGGAGTGATAGC	0.383																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(5806-5808)TCC>TCT		ATP-binding cassette, sub-family A, member 12							172.0	152.0	159.0					2																	215831648		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215831648G>A	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.5808C>T	2.37:g.215831648G>A						ABCA12_uc002vev.2_Silent_p.S1618S|ABCA12_uc010zjn.1_Silent_p.S863S	p.S1936S	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)	39	6028	-		Renal(323;0.127)	1936					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.5808C>T	CCDS33372.1																																																																																				PASS	0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	23	14	23	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216251538	216251538	+	Missense_Mutation	SNP	G	G	A	rs139078629	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:216251538G>A	ENST00000359671.1	-	27	4478	c.4213C>T	c.(4213-4215)Cgg>Tgg	p.R1405W	FN1_ENST00000356005.4_Missense_Mutation_p.R1405W|FN1_ENST00000336916.4_Missense_Mutation_p.R1405W|FN1_ENST00000357009.2_Missense_Mutation_p.R1405W|FN1_ENST00000354785.4_Missense_Mutation_p.R1496W|FN1_ENST00000323926.6_Missense_Mutation_p.R1496W|FN1_ENST00000421182.1_Missense_Mutation_p.R1405W|FN1_ENST00000346544.3_Missense_Mutation_p.R1405W|FN1_ENST00000443816.1_Missense_Mutation_p.R1405W|FN1_ENST00000345488.5_Missense_Mutation_p.R1405W|FN1_ENST00000432072.2_Missense_Mutation_p.R1496W|FN1_ENST00000357867.4_Missense_Mutation_p.R1405W|FN1_ENST00000446046.1_Missense_Mutation_p.R1405W			P02751	FINC_HUMAN	fibronectin 1	1405	Cell-attachment.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R1405W(1)|p.R1496W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGGGCACCCGATCTTCTCGA	0.547													G|||	14	0.00279553	0.0	0.0058	5008	,	,		16535	0.0		0.0099	False		,,,				2504	0.0					uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(4486-4488)CGG>TGG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	11,4395	17.9+/-39.9	0,11,2192	105.0	96.0	99.0		4213,4213,4213,4213,4486	3.3	0.9	2	dbSNP_134	99	70,8530	41.7+/-99.0	1,68,4231	yes	missense,missense,missense,missense,missense	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	101,101,101,101,101	1,79,6423	AA,AG,GG		0.814,0.2497,0.6228	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1405/2356,1405/2177,1405/2297,1405/2331,1496/2478	216251538	81,12925	2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216251538G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4213C>T	2.37:g.216251538G>A	ENSP00000352696:p.Arg1405Trp					FN1_uc002vfb.2_Missense_Mutation_p.R1405W|FN1_uc002vfc.2_Missense_Mutation_p.R1405W|FN1_uc002vfd.2_Missense_Mutation_p.R1496W|FN1_uc002vfe.2_Missense_Mutation_p.R1405W|FN1_uc002vff.2_Missense_Mutation_p.R1405W|FN1_uc002vfg.2_Missense_Mutation_p.R1405W|FN1_uc002vfh.2_Missense_Mutation_p.R1405W|FN1_uc002vfi.2_Missense_Mutation_p.R1496W|FN1_uc002vfj.2_Missense_Mutation_p.R1496W|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.R123W	p.R1496W	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	28	4752	-		Renal(323;0.127)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.4486C>T		10	0.004578754578754579	0	0.0	2	0.0055248618784530384	0	0.0	8	0.010554089709762533	G	16.09	3.023385	0.54683	0.002497	0.00814	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	6.17	3.29	0.37713	.	0.000000	0.64402	D	0.000014	T	0.69088	0.3072	M	0.87758	2.905	0.25760	N	0.984958	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;0.998;0.999;0.998;0.999;0.997;0.997;0.998	T	0.70230	-0.4929	10	0.72032	D	0.01	.	15.3906	0.74741	0.0:0.0:0.6399:0.3601	.	1496;1496;1405;1405;1405;1405;1406;1405;1405;1496	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	W	1405;1496;1405;1405;1496;1406;1405;1405;1405;1405;1405;1405;1496;1405;212	ENSP00000394423:R1405W;ENSP00000323534:R1496W;ENSP00000338200:R1405W;ENSP00000350534:R1405W;ENSP00000346839:R1496W;ENSP00000352696:R1405W;ENSP00000265312:R1405W;ENSP00000273049:R1405W;ENSP00000349509:R1405W;ENSP00000410422:R1405W;ENSP00000415018:R1405W;ENSP00000399538:R1496W;ENSP00000348285:R1405W;ENSP00000416139:R212W	ENSP00000265313:R1406W	R	-	1	2	FN1	215959783	1.000000	0.71417	0.921000	0.36526	0.176000	0.22953	3.331000	0.52075	0.417000	0.25871	0.655000	0.94253	CGG		PASS	0.547	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		16	23	16	23	---	---	---	---
XRCC5	7520	broad.mit.edu	37	2	216983789	216983789	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:216983789A>C	ENST00000392133.3	+	7	853	c.392A>C	c.(391-393)cAt>cCt	p.H131P	XRCC5_ENST00000392132.2_Missense_Mutation_p.H131P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	131					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.H131P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GAGAAGAGGCATATTGAAATA	0.343								Non-homologous end-joining																														uc002vfy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(391-393)CAT>CCT	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							71.0	74.0	73.0					2																	216983789		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216983789A>C	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.392A>C	2.37:g.216983789A>C	ENSP00000375978:p.His131Pro					XRCC5_uc002vfz.2_Missense_Mutation_p.H17P	p.H131P	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	5	532	+		Renal(323;0.0328)	131					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.392A>C	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628060	0.87560	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.30714	1.52;1.52	5.38	5.38	0.77491	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.052835	0.85682	D	0.000000	T	0.53626	0.1808	M	0.73962	2.25	0.58432	D	0.999994	D	0.63046	0.992	D	0.64144	0.922	T	0.57423	-0.7814	10	0.62326	D	0.03	.	14.7359	0.69414	1.0:0.0:0.0:0.0	.	131	P13010	XRCC5_HUMAN	P	131;131;118	ENSP00000375978:H131P;ENSP00000375977:H131P	ENSP00000375977:H131P	H	+	2	0	XRCC5	216692034	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.247000	0.89830	2.254000	0.74563	0.533000	0.62120	CAT		PASS	0.343	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		10	25	10	25	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219292727	219292727	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219292727G>A	ENST00000248444.5	+	5	475	c.387G>A	c.(385-387)gtG>gtA	p.V129V	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.V129V	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	129	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.V129V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAGCACGTGGAGACCAACT	0.617																																						uc002via.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(385-387)GTG>GTA		villin 1							146.0	142.0	143.0					2																	219292727		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219292727G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.387G>A	2.37:g.219292727G>A						VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V129V|VIL1_uc002vic.1_Silent_p.V129V	p.V129V	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	452	+		Renal(207;0.0474)	129	GMKHV->AMHKTS: Inhibits actin-severing activity and motility of the S.flexneri, does not inhibit activities regarding actin nucleation, actin capping and actin bundling, lamellipodium or ruffle localization and cell morphology; when associated with 86-N--E-91.		Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.387G>A	CCDS2417.1																																																																																				PASS	0.617	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		40	89	40	89	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219562286	219562286	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219562286C>T	ENST00000295709.3	+	24	3141	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	STK36_ENST00000392106.2_Silent_p.I933I|STK36_ENST00000392105.3_Silent_p.I933I|STK36_ENST00000440309.1_Silent_p.I954I	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.I954I(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCATGTCCATCCTGAAGCATC	0.577																																						uc002viu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(2860-2862)ATC>ATT		serine/threonine kinase 36							82.0	75.0	78.0					2																	219562286		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219562286C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2862C>T	2.37:g.219562286C>T						STK36_uc002viv.2_Silent_p.I933I|STK36_uc002viw.2_Silent_p.I132I|STK36_uc002vix.2_Missense_Mutation_p.P16S	p.I954I	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	24	3128	+		Renal(207;0.0915)	954						Silent	SNP	ENST00000295709.3	37	c.2862C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251352	0.22880	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.3	2.34	0.29019	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33471	-0.9867	4	.	.	.	-1.9176	0.7833	0.01044	0.1626:0.3592:0.1577:0.3204	.	.	.	.	F	147	.	.	S	+	2	0	STK36	219270530	0.906000	0.30813	1.000000	0.80357	0.998000	0.95712	0.400000	0.20932	0.811000	0.34303	0.655000	0.94253	TCC		PASS	0.577	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	44	20	44	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219617859	219617859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219617859G>A	ENST00000392102.1	+	18	3549	c.3209G>A	c.(3208-3210)tGg>tAg	p.W1070*	TTLL4_ENST00000442769.1_Nonsense_Mutation_p.W1006*|TTLL4_ENST00000258398.4_Nonsense_Mutation_p.W1070*|TTLL4_ENST00000457313.1_Nonsense_Mutation_p.W905*	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1070					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.W1070*(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTCCGGAGTTGGTGCTACAAA	0.517																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3208-3210)TGG>TAG		tubulin tyrosine ligase-like family, member 4							245.0	236.0	239.0					2																	219617859		2203	4300	6503	SO:0001587	stop_gained	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219617859G>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3209G>A	2.37:g.219617859G>A	ENSP00000375951:p.Trp1070*					TTLL4_uc010zkl.1_Nonsense_Mutation_p.W905*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.W1006*|TTLL4_uc010zkm.1_3'UTR	p.W1070*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	18	3579	+		Renal(207;0.0915)	1070					A8K6V5|Q8WW29	Nonsense_Mutation	SNP	ENST00000392102.1	37	c.3209G>A	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.099695|4.099695	0.76983|0.76983	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000417855|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.529470	.|0.20272	.|N	.|0.095622	T|.	0.38374|.	0.1038|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26189|.	-1.0110|.	3|.	.|0.02654	.|T	.|1	.|.	15.9951|15.9951	0.80234|0.80234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	94|905;1070;1006;1070	.|.	.|ENSP00000258398:W1070X	G|W	+|+	1|2	0|0	TTLL4|TTLL4	219326103|219326103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.645000|2.645000	0.46621|0.46621	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GGT|TGG		PASS	0.517	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		81	171	81	171	---	---	---	---
PRKAG3	53632	broad.mit.edu	37	2	219692566	219692566	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219692566C>T	ENST00000529249.1	-	7	1125	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PRKAG3_ENST00000392098.3_Intron|PRKAG3_ENST00000439262.2_Silent_p.E245E|PRKAG3_ENST00000545803.1_Silent_p.E86E			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	270					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.E270E(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)	CCCTCCAGGTCTCAATCTTAT	0.562																																						uc002vjb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(808-810)GAG>GAA		AMP-activated protein kinase, non-catalytic							103.0	111.0	109.0					2																	219692566		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:219692566C>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.810G>A	2.37:g.219692566C>T						PRKAG3_uc010zkn.1_Intron|PRKAG3_uc010fvy.1_Missense_Mutation_p.R312K	p.E270E	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)	7	829	-		Renal(207;0.0474)	270					Q4QQG8|Q4V779|Q9NRL1	Silent	SNP	ENST00000529249.1	37	c.810G>A	CCDS2424.1																																																																																				PASS	0.562	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			11	18	11	18	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219888009	219888009	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219888009C>T	ENST00000341552.5	-	16	2823	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E914K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E914K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	914	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E914K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCTCCACTCGAACTGCAGG	0.632																																						uc002vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2740-2742)GAG>AAG		coiled-coil domain containing 108 isoform 1							39.0	43.0	41.0					2																	219888009		2203	4299	6502	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219888009C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2740G>A	2.37:g.219888009C>T	ENSP00000340776:p.Glu914Lys						p.E914K	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2824	-		Renal(207;0.0915)	914			MSP.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2740G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539863	0.27563	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.31769	1.48;1.48;1.48	5.61	4.68	0.58851	.	0.000000	0.47093	D	0.000254	T	0.19765	0.0475	L	0.53249	1.67	0.80722	D	1	P	0.44627	0.839	B	0.35899	0.213	T	0.03739	-1.1008	10	0.14252	T	0.57	-20.012	4.2441	0.10663	0.0:0.5989:0.2131:0.1881	.	914	Q6ZU64	CC108_HUMAN	K	914	ENSP00000340776:E914K;ENSP00000413377:E914K;ENSP00000409117:E914K	ENSP00000340776:E914K	E	-	1	0	CCDC108	219596253	0.908000	0.30866	0.998000	0.56505	0.218000	0.24690	1.334000	0.33827	2.663000	0.90544	0.555000	0.69702	GAG		PASS	0.632	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		5	14	5	14	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219894862	219894863	+	Missense_Mutation	DNP	GG	GG	AA	rs531797410		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:219894862_219894863GG>AA	ENST00000341552.5	-	10	1312_1313	c.1229_1230CC>TT	c.(1228-1230)cCC>cTT	p.P410L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P345L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P410L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P410L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P399L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	410						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P410L(2)|p.P410P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGGCCGTGGGGCATGAGAA	0.554											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vjl.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1228-1230)CCC>CCT|c.(1228-1230)CCC>CTC		coiled-coil domain containing 108 isoform 1																																				SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219894862G>A|g.chr2:219894863G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1229_1230delinsAA	2.37:g.219894862_219894863delinsAA	ENSP00000340776:p.Pro410Leu		OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2262	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.P399P|CCDC108_uc010zkq.1_Silent_p.P345P|CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.P399L|CCDC108_uc010zkq.1_Missense_Mutation_p.P345L	p.P410P|p.P410L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1314|1313	-		Renal(207;0.0915)	410					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent|Missense_Mutation	SNP	ENST00000341552.5	37	c.1230C>T|c.1229C>T	CCDS2430.2																																																																																				PASS	0.554	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		21|22	42|41	21	41	---	---	---	---
DNAJB2	3300	broad.mit.edu	37	2	220147635	220147635	+	Silent	SNP	C	C	T	rs371047447		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:220147635C>T	ENST00000336576.5	+	6	717	c.429C>T	c.(427-429)tcC>tcT	p.S143S	DNAJB2_ENST00000392086.4_Silent_p.S143S|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	143					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)	p.S143S(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCTTCCTCCTTCCCTGGGC	0.552																																						uc002vkx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)TCC>TCT		DnaJ (Hsp40) homolog, subfamily B, member 2		C	,	0,4406		0,0,2203	111.0	103.0	106.0		429,429	3.5	1.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAJB2	NM_001039550.1,NM_006736.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	143/278,143/325	220147635	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220147635C>T		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.429C>T	2.37:g.220147635C>T						DNAJB2_uc002vkw.1_Silent_p.S143S|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR	p.S143S	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	666	+		Renal(207;0.0474)	143					A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	ENST00000336576.5	37	c.429C>T	CCDS2439.1																																																																																				PASS	0.552	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			13	42	13	42	---	---	---	---
DES	1674	broad.mit.edu	37	2	220286069	220286069	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:220286069C>T	ENST00000373960.3	+	6	1117	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	344	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.S344F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGAACGATTCCCTGATGAGG	0.582																																						uc002vll.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1030-1032)TCC>TTC		desmin							51.0	54.0	53.0					2																	220286069		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286069C>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1031C>T	2.37:g.220286069C>T	ENSP00000363071:p.Ser344Phe						p.S344F	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1117	+		Renal(207;0.0183)	344			Rod.|Coil 2B.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1031C>T	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714230	0.89112	.	.	ENSG00000175084	ENST00000373960	D	0.91068	-2.78	5.24	5.24	0.73138	Filament (1);	0.000000	0.48767	D	0.000164	D	0.96540	0.8871	M	0.92507	3.315	0.58432	D	0.999996	D	0.76494	0.999	D	0.75484	0.986	D	0.97195	0.9860	10	0.87932	D	0	.	18.6284	0.91350	0.0:1.0:0.0:0.0	.	344	P17661	DESM_HUMAN	F	344	ENSP00000363071:S344F	ENSP00000363071:S344F	S	+	2	0	DES	219994313	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.710000	0.68392	2.706000	0.92434	0.655000	0.94253	TCC		PASS	0.582	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		19	47	19	47	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220396842	220396842	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:220396842G>A	ENST00000347842.3	+	3	1242	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Missense_Mutation_p.E410K	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	410					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.E410K(1)									GTCCTGCCAGGAACAGCGGGT	0.622																																						uc002vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1228-1230)GAA>AAA		amiloride-sensitive cation channel 4 isoform 2							56.0	60.0	58.0					2																	220396842		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396842G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1228G>A	2.37:g.220396842G>A	ENSP00000326627:p.Glu410Lys					ACCN4_uc010fwi.1_Missense_Mutation_p.E410K|ACCN4_uc010fwj.1_Missense_Mutation_p.E410K|ACCN4_uc002vly.1_Missense_Mutation_p.E410K|ACCN4_uc002vlz.2_Missense_Mutation_p.E410K|ACCN4_uc002vmb.2_Missense_Mutation_p.E64K	p.E410K	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	3	1242	+		Renal(207;0.0183)	410			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1228G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340025	0.81911	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.64085	-0.08;-0.08	3.8	3.8	0.43715	.	0.059653	0.64402	D	0.000005	T	0.60340	0.2261	N	0.20685	0.6	0.58432	D	0.999999	P;B;D	0.71674	0.827;0.369;0.998	P;B;P	0.59948	0.531;0.259;0.866	T	0.55541	-0.8125	10	0.15952	T	0.53	-3.0701	15.8578	0.78994	0.0:0.0:1.0:0.0	.	410;410;410	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	K	410	ENSP00000326627:E410K;ENSP00000350786:E410K	ENSP00000326627:E410K	E	+	1	0	ACCN4	220105086	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.772000	0.85439	2.152000	0.67230	0.561000	0.74099	GAA		PASS	0.622	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		18	41	18	41	---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220432668	220432669	+	Silent	DNP	GG	GG	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:220432668_220432669GG>TA	ENST00000404537.1	-	3	1361_1362	c.1305_1306CC>TA	c.(1303-1308)ccCCgg>ccTAgg	p.435_436PR>PR	OBSL1_ENST00000289656.3_Silent_p.22_23PR>PR|OBSL1_ENST00000265318.4_Silent_p.435_436PR>PR|OBSL1_ENST00000603926.1_Silent_p.435_436PR>PR|OBSL1_ENST00000373873.4_Silent_p.435_436PR>PR|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Silent_p.435_436PR>PR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	435					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.P435P(1)|p.R436R(1)|p.(=)(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCGAGCTTCCGGGGCAGGCGCT	0.644																																						uc010fwk.2																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)		0						c.(1306-1308)CGG>AGG|c.(1303-1305)CCC>CCT		obscurin-like 1																																				SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432668G>T|g.chr2:220432669G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1305_1306delinsTA	2.37:g.220432668_220432669delinsTA						OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.R436R|OBSL1_uc002vmj.2_Silent_p.R23R|OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.P435P|OBSL1_uc002vmj.2_Silent_p.P22P	p.R436R|p.P435P	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	3	1363|1362	-		Renal(207;0.0376)	436|435					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.1306C>A|c.1305C>T	CCDS46520.1																																																																																				PASS	0.644	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			11	19|17	11	17	---	---	---	---
MOGAT1	116255	broad.mit.edu	37	2	223559194	223559194	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:223559194G>A	ENST00000446656.3	+	4	592	c.592G>A	c.(592-594)Gga>Aga	p.G198R		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	198					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.G198R(1)|p.G197R(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCTCATCCTGGAAAGTTCAC	0.448																																					Ovarian(93;205 1446 2385 11581 25911)	uc010fws.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(592-594)GGA>AGA		monoacylglycerol O-acyltransferase 1							85.0	85.0	85.0					2																	223559194		1907	4123	6030	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223559194G>A	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.592G>A	2.37:g.223559194G>A	ENSP00000406674:p.Gly198Arg					MOGAT1_uc010fwt.1_Missense_Mutation_p.G158R	p.G198R	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	4	640	+		Renal(207;0.0183)	198					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.592G>A	CCDS46524.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825638	0.90955	.	.	ENSG00000124003	ENST00000446656	T	0.16324	2.35	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.90198	3.095	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	T	0.59032	-0.7530	10	0.62326	D	0.03	-17.251	19.2001	0.93708	0.0:0.0:1.0:0.0	.	198	Q96PD6	MOGT1_HUMAN	R	198	ENSP00000406674:G198R	ENSP00000406674:G198R	G	+	1	0	MOGAT1	223267438	1.000000	0.71417	0.820000	0.32676	0.953000	0.61014	8.937000	0.92936	2.776000	0.95493	0.643000	0.83706	GGA		PASS	0.448	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		17	29	17	29	---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224463020	224463020	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:224463020C>T	ENST00000305409.2	-	2	1213	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.Q327Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGCCCATTCTGTAACCTCC	0.403																																						uc002vnm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(979-981)CAG>CAA		secretogranin II precursor							127.0	131.0	130.0					2																	224463020		2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224463020C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.981G>A	2.37:g.224463020C>T							p.Q327Q	NM_003469	NP_003460	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1114	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	327					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.981G>A	CCDS2457.1																																																																																				PASS	0.403	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		26	72	26	72	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225662655	225662655	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:225662655G>A	ENST00000258390.7	-	42	4605	c.4538C>T	c.(4537-4539)tCa>tTa	p.S1513L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1507L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1513					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S51L(1)|p.S1511L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTCATCAATGAATTTTGACA	0.358																																						uc010fwz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4537-4539)TCA>TTA		dedicator of cytokinesis 10							84.0	84.0	84.0					2																	225662655		1887	4114	6001	SO:0001583	missense	55619						GTP binding	g.chr2:225662655G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4538C>T	2.37:g.225662655G>A	ENSP00000258390:p.Ser1513Leu					DOCK10_uc002vob.2_Missense_Mutation_p.S1507L|DOCK10_uc002voa.2_Missense_Mutation_p.S169L|DOCK10_uc002voc.2_Missense_Mutation_p.S367L	p.S1513L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4777	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1513					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4538C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679971	0.47886	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.01963	4.53;4.53	5.95	5.95	0.96441	.	0.377447	0.27659	N	0.018383	T	0.03095	0.0091	L	0.46157	1.445	0.29861	N	0.827682	B;B;B;B	0.20164	0.034;0.02;0.042;0.001	B;B;B;B	0.21151	0.013;0.01;0.033;0.004	T	0.17930	-1.0353	10	0.30854	T	0.27	.	11.6088	0.51047	0.1365:0.0:0.8635:0.0	.	1513;367;1507;175	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1507;1513;51	ENSP00000386694:S1507L;ENSP00000258390:S1513L	ENSP00000258390:S1513L	S	-	2	0	DOCK10	225370899	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	6.255000	0.72466	2.824000	0.97209	0.655000	0.94253	TCA		PASS	0.358	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			28	46	28	46	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225710316	225710316	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:225710316A>G	ENST00000258390.7	-	20	2346	c.2279T>C	c.(2278-2280)aTt>aCt	p.I760T	DOCK10_ENST00000409592.3_Missense_Mutation_p.I754T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	760	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I760T(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAAAACAAAATATGGTGTTT	0.388																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2278-2280)ATT>ACT		dedicator of cytokinesis 10							154.0	146.0	148.0					2																	225710316		1862	4103	5965	SO:0001583	missense	55619						GTP binding	g.chr2:225710316A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2279T>C	2.37:g.225710316A>G	ENSP00000258390:p.Ile760Thr					DOCK10_uc002vob.2_Missense_Mutation_p.I754T	p.I760T	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	20	2518	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	760			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2279T>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548555	0.65311	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.17054	2.3;2.3	5.43	5.43	0.79202	.	0.167503	0.53938	D	0.000059	T	0.33760	0.0874	M	0.81497	2.545	0.38007	D	0.93441	B;B	0.31054	0.269;0.306	B;B	0.41571	0.226;0.36	T	0.37430	-0.9706	10	0.87932	D	0	.	15.4945	0.75637	1.0:0.0:0.0:0.0	.	760;754	Q96BY6;B3FL70	DOC10_HUMAN;.	T	754;760	ENSP00000386694:I754T;ENSP00000258390:I760T	ENSP00000258390:I760T	I	-	2	0	DOCK10	225418560	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.962000	0.93254	2.058000	0.61347	0.533000	0.62120	ATT		PASS	0.388	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			31	70	31	70	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225714262	225714262	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:225714262C>T	ENST00000258390.7	-	19	2264	c.2197G>A	c.(2197-2199)Gtt>Att	p.V733I	DOCK10_ENST00000409592.3_Missense_Mutation_p.V727I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	733	DHR-1.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V733I(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGTGCAGAACTGCTGTGTAG	0.463																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2197-2199)GTT>ATT		dedicator of cytokinesis 10							52.0	55.0	54.0					2																	225714262		1923	4120	6043	SO:0001583	missense	55619						GTP binding	g.chr2:225714262C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.2197G>A	2.37:g.225714262C>T	ENSP00000258390:p.Val733Ile					DOCK10_uc002vob.2_Missense_Mutation_p.V727I	p.V733I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	19	2436	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	733			DHR-1.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.2197G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703356	0.68501	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19394	2.15;2.15	5.46	5.46	0.80206	.	0.057485	0.64402	D	0.000001	T	0.21145	0.0509	L	0.48260	1.515	0.46701	D	0.999162	B;B	0.31485	0.07;0.325	B;B	0.31614	0.046;0.133	T	0.01951	-1.1241	10	0.59425	D	0.04	.	13.004	0.58692	0.0:0.9257:0.0:0.0742	.	733;727	Q96BY6;B3FL70	DOC10_HUMAN;.	I	727;733	ENSP00000386694:V727I;ENSP00000258390:V733I	ENSP00000258390:V733I	V	-	1	0	DOCK10	225422506	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	5.503000	0.66962	2.743000	0.94032	0.638000	0.83543	GTT		PASS	0.463	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	11	3	11	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447151	226447151	+	Missense_Mutation	SNP	C	C	T	rs138393299		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:226447151C>T	ENST00000272907.6	+	4	1431	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	340	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P340S(1)									GCTGGTATTTCCCCCCGCCCC	0.632																																						uc002voe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1018-1020)CCC>TCC		hypothetical protein LOC57624							23.0	26.0	25.0					2																	226447151		1864	4081	5945	SO:0001583	missense	57624							g.chr2:226447151C>T	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.1018C>T	2.37:g.226447151C>T	ENSP00000272907:p.Pro340Ser					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P110S	p.P340S	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)	4	1193	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	340			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1018C>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385160	0.82792	.	.	ENSG00000144460	ENST00000272907	T	0.79554	-1.28	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90209	0.4263	10	0.42905	T	0.14	-17.6708	18.916	0.92506	0.0:1.0:0.0:0.0	.	340	Q9P242	K1486_HUMAN	S	340	ENSP00000272907:P340S	ENSP00000272907:P340S	P	+	1	0	KIAA1486	226155395	1.000000	0.71417	0.991000	0.47740	0.718000	0.41266	7.487000	0.81328	2.462000	0.83206	0.650000	0.86243	CCC		PASS	0.632	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		7	11	7	11	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228148505	228148505	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228148505G>A	ENST00000396578.3	+	33	2841	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	893	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.M893I(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)		TGATTGGGATGATGGGCTTTC	0.463																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2677-2679)ATG>ATA		alpha 3 type IV collagen isoform 1 precursor							106.0	110.0	109.0					2																	228148505		1863	4106	5969	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.chr2:228148505G>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.2679G>A	2.37:g.228148505G>A	ENSP00000379823:p.Met893Ile					COL4A3_uc002von.1_Missense_Mutation_p.M893I|COL4A3_uc002voo.1_Missense_Mutation_p.M893I|COL4A3_uc002vop.1_Missense_Mutation_p.M893I|uc002voq.1_Intron|uc002vor.1_Intron	p.M893I	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)	33	2841	+		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)	893			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.2679G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374851	0.11409	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93488	-3.23	5.49	4.6	0.57074	.	0.170748	0.41823	N	0.000806	D	0.85164	0.5634	N	0.13327	0.33	0.33473	D	0.586502	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.14578	0.006;0.006;0.006;0.011	T	0.80841	-0.1202	10	0.10377	T	0.69	.	13.1581	0.59529	0.0:0.3048:0.6952:0.0	.	893;893;893;893	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	I	893	ENSP00000379823:M893I	ENSP00000323334:M893I	M	+	3	0	COL4A3	227856749	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	0.777000	0.26718	1.435000	0.47434	0.655000	0.94253	ATG		PASS	0.463	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		18	56	18	56	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228157944	228157944	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228157944G>A	ENST00000396578.3	+	38	3410	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1083	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.G1083E(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)		GGAAAGAAAGGAGAAATGGGG	0.512																																						uc002vom.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(3247-3249)GGA>GAA		alpha 3 type IV collagen isoform 1 precursor							58.0	62.0	61.0					2																	228157944		1837	4090	5927	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.chr2:228157944G>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.3248G>A	2.37:g.228157944G>A	ENSP00000379823:p.Gly1083Glu					COL4A3_uc002von.1_Missense_Mutation_p.G1083E|COL4A3_uc002voo.1_Missense_Mutation_p.G1083E|COL4A3_uc002vop.1_Missense_Mutation_p.G1083E|uc002voq.1_Intron|uc002vor.1_Intron	p.G1083E	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)	38	3410	+		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)	1083			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3248G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693632	0.68386	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.99353	-5.77;-5.52	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000022	D	0.99612	0.9859	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98025	1.0373	10	0.87932	D	0	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	1083;1083;1083;1083	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	E	1083;1083;1083;1083;1083;120	ENSP00000379823:G1083E;ENSP00000302781:G120E	ENSP00000302781:G120E	G	+	2	0	COL4A3	227866188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.712000	0.68407	2.868000	0.98415	0.557000	0.71058	GGA		PASS	0.512	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		13	22	13	22	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228172619	228172619	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228172619C>T	ENST00000396578.3	+	48	4608	c.4446C>T	c.(4444-4446)gcC>gcT	p.A1482A	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1482	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				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.A1482A(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)		ATCAACGAGCCCACGGACAAG	0.478																																						uc002vom.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(4444-4446)GCC>GCT		alpha 3 type IV collagen isoform 1 precursor							63.0	60.0	61.0					2																	228172619		1899	4117	6016	SO:0001819	synonymous_variant	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.chr2:228172619C>T		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.4446C>T	2.37:g.228172619C>T						COL4A3_uc002von.1_Silent_p.A1482A|COL4A3_uc002voo.1_Silent_p.A1482A|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	p.A1482A	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)	48	4608	+		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)	1482			Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4446C>T	CCDS42829.1																																																																																				PASS	0.478	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		14	33	14	33	---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228175576	228175576	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228175576C>T	ENST00000396578.3	+	51	5002	c.4840C>T	c.(4840-4842)Cta>Tta	p.L1614L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1614	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-tumor cell activity of tumstatin.				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.L1614L(1)		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)		CAGCCCATTTCTAGAATGTCA	0.473																																						uc002vom.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(4840-4842)CTA>TTA		alpha 3 type IV collagen isoform 1 precursor							90.0	88.0	89.0					2																	228175576		1861	4104	5965	SO:0001819	synonymous_variant	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.chr2:228175576C>T		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.4840C>T	2.37:g.228175576C>T						COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Silent_p.L30L	p.L1614L	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)	51	5002	+		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)	1614			Required for the anti-tumor cell activity of tumstatin.|Collagen IV NC1.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4840C>T	CCDS42829.1																																																																																				PASS	0.473	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		16	47	16	47	---	---	---	---
C2orf83	56918	broad.mit.edu	37	2	228476363	228476363	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228476363G>A	ENST00000264387.4	-	3	286	c.200C>T	c.(199-201)cCa>cTa	p.P67L	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	67					transport (GO:0006810)	membrane (GO:0016020)		p.P67L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TTTCTCAGATGGACTTAATAC	0.423																																						uc002vph.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CCA>CTA		hypothetical protein LOC56918 isoform 1							61.0	65.0	64.0					2																	228476363		2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476363G>A		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.200C>T	2.37:g.228476363G>A	ENSP00000264387:p.Pro67Leu					C2orf83_uc010zlu.1_3'UTR	p.P67L	NM_020161	NP_064546	Q53S99	CB083_HUMAN			3	435	-			67					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.200C>T	CCDS33388.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187628	0.57909	.	.	ENSG00000042304	ENST00000264387	T	0.62232	0.04	2.31	2.31	0.28768	.	.	.	.	.	T	0.59998	0.2235	N	0.19112	0.55	0.37656	D	0.922605	D	0.76494	0.999	D	0.64042	0.921	T	0.65360	-0.6187	9	0.72032	D	0.01	.	8.2358	0.31625	0.0:0.0:1.0:0.0	.	67	Q53S99	CB083_HUMAN	L	67	ENSP00000264387:P67L	ENSP00000264387:P67L	P	-	2	0	C2orf83	228184607	0.138000	0.22547	0.432000	0.26747	0.363000	0.29612	0.922000	0.28734	1.619000	0.50296	0.514000	0.50259	CCA		PASS	0.423	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		17	35	17	35	---	---	---	---
DAW1	164781	broad.mit.edu	37	2	228786214	228786214	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228786214G>A	ENST00000309931.2	+	12	1233	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	DAW1_ENST00000545118.1_Missense_Mutation_p.E369K|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	384						cilium (GO:0005929)		p.E384K(1)									CCAGGTTCTTGAGGGGCACAC	0.438																																						uc002vpn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1150-1152)GAG>AAG		WD repeat domain 69							97.0	93.0	94.0					2																	228786214		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228786214G>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1150G>A	2.37:g.228786214G>A	ENSP00000311899:p.Glu384Lys					WDR69_uc010zlw.1_Missense_Mutation_p.E369K|WDR69_uc002vpo.1_RNA	p.E384K	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	12	1229	+		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)	384			WD 7.		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.1150G>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188287	0.38609	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.59772	0.24;0.24	5.41	3.59	0.41128	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.593501	0.17545	N	0.170393	T	0.33089	0.0851	N	0.11427	0.14	0.38958	D	0.958497	B	0.10296	0.003	B	0.18263	0.021	T	0.08126	-1.0737	10	0.17369	T	0.5	.	6.6422	0.22914	0.1548:0.1482:0.6971:0.0	.	384	Q8N136	WDR69_HUMAN	K	384;369	ENSP00000311899:E384K;ENSP00000437887:E369K	ENSP00000311899:E384K	E	+	1	0	WDR69	228494458	1.000000	0.71417	0.459000	0.27081	0.995000	0.86356	3.497000	0.53295	0.635000	0.30488	0.650000	0.86243	GAG		PASS	0.438	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		28	38	28	38	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228846570	228846570	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228846570C>T	ENST00000392056.3	-	12	5012	c.4966G>A	c.(4966-4968)Gat>Aat	p.D1656N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1627N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1656						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1656N(1)|p.D1675N(1)		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)		TGCACGACATCTAGAAACTAA	0.502																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4966-4968)GAT>AAT		sphingosine kinase type 1-interacting protein							68.0	65.0	66.0					2																	228846570		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846570C>T		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.4966G>A	2.37:g.228846570C>T	ENSP00000375909:p.Asp1656Asn					SPHKAP_uc002vpp.2_Missense_Mutation_p.D1627N|SPHKAP_uc010zlx.1_Silent_p.*1485*	p.D1656N	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)	12	5013	-		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)	1656					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4966G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333832	0.81801	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06528	3.29;3.29	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.165850	0.53938	D	0.000046	T	0.23210	0.0561	L	0.57536	1.79	0.42909	D	0.994258	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.981	T	0.00024	-1.2322	10	0.46703	T	0.11	.	19.1516	0.93491	0.0:1.0:0.0:0.0	.	1656;1627	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	1656;1627	ENSP00000375909:D1656N;ENSP00000339886:D1627N	ENSP00000339886:D1627N	D	-	1	0	SPHKAP	228554814	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.461000	0.60115	2.773000	0.95371	0.655000	0.94253	GAT		PASS	0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		17	33	17	33	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881929	228881929	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228881929C>T	ENST00000392056.3	-	7	3687	c.3641G>A	c.(3640-3642)cGg>cAg	p.R1214Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1214Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1214						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R1214Q(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)		CTGGCTGCTCCGTCTGGAGGA	0.577																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3640-3642)CGG>CAG		sphingosine kinase type 1-interacting protein							85.0	85.0	85.0					2																	228881929		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881929C>T		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.3641G>A	2.37:g.228881929C>T	ENSP00000375909:p.Arg1214Gln					SPHKAP_uc002vpp.2_Missense_Mutation_p.R1214Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1214Q	p.R1214Q	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	3688	-		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)	1214					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3641G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335096	0.24253	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51325	0.71;0.71	5.87	4.99	0.66335	.	0.349867	0.30850	N	0.008747	T	0.38054	0.1026	L	0.43152	1.355	0.09310	N	1	P;P;P	0.45348	0.65;0.614;0.856	B;B;B	0.35182	0.067;0.041;0.197	T	0.36407	-0.9749	10	0.54805	T	0.06	.	14.1284	0.65238	0.0:0.9284:0.0:0.0716	.	245;1214;1214	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1214	ENSP00000375909:R1214Q;ENSP00000339886:R1214Q	ENSP00000339886:R1214Q	R	-	2	0	SPHKAP	228590173	0.077000	0.21312	0.004000	0.12327	0.228000	0.25075	3.805000	0.55575	1.500000	0.48636	0.655000	0.94253	CGG		PASS	0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		22	41	22	41	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882995	228882995	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228882995C>T	ENST00000392056.3	-	7	2621	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G859R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	859						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.G859R(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)		GACCTTTGTCCTTCGGAAGAG	0.488																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(2575-2577)GGA>AGA		sphingosine kinase type 1-interacting protein							675.0	638.0	651.0					2																	228882995		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882995C>T		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.2575G>A	2.37:g.228882995C>T	ENSP00000375909:p.Gly859Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.G859R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G859R	p.G859R	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	2622	-		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)	859					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2575G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.818726	0.00595	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.45	-0.665	0.11403	.	1.385770	0.03826	N	0.268379	T	0.07863	0.0197	L	0.35414	1.06	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.08055	0.001;0.003	T	0.35450	-0.9788	10	0.13108	T	0.6	.	4.681	0.12734	0.0:0.2714:0.2998:0.4288	.	859;859	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	859	ENSP00000375909:G859R;ENSP00000339886:G859R	ENSP00000339886:G859R	G	-	1	0	SPHKAP	228591239	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.071000	0.14594	-0.036000	0.13669	-0.122000	0.15005	GGA		PASS	0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		194	440	194	440	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884579	228884579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:228884579G>A	ENST00000392056.3	-	7	1037	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Q331*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	331						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.Q331*(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)		TTTTCCATTTGACCTTTAAAA	0.428																																						uc002vpq.2																			2	Substitution - Nonsense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(991-993)CAA>TAA		sphingosine kinase type 1-interacting protein							161.0	161.0	161.0					2																	228884579		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228884579G>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.991C>T	2.37:g.228884579G>A	ENSP00000375909:p.Gln331*					SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Q331*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Q331*	p.Q331*	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	1038	-		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)	331					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.991C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093462	0.76756	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	5.71	3.86	0.44501	.	1.004150	0.08011	N	0.990375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	5.0324	0.14417	0.0775:0.2754:0.5133:0.1338	.	.	.	.	X	331	.	ENSP00000339886:Q331X	Q	-	1	0	SPHKAP	228592823	0.000000	0.05858	0.004000	0.12327	0.884000	0.51177	0.754000	0.26390	1.385000	0.46445	0.650000	0.86243	CAA		PASS	0.428	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		27	66	27	66	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231157413	231157413	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:231157413G>A	ENST00000392045.3	+	20	1992	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	SP140_ENST00000420434.3_Silent_p.T599T|SP140_ENST00000486687.2_Silent_p.T550T|SP140_ENST00000417495.3_Silent_p.T512T|SP140_ENST00000350136.5_Silent_p.T495T|SP140_ENST00000343805.6_Silent_p.T566T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	626	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T626T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACCCCCACGGAATTTGAAA	0.507																																						uc002vql.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1876-1878)ACG>ACA		SP140 nuclear body protein isoform 1							115.0	125.0	122.0					2																	231157413		2005	4175	6180	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231157413G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1878G>A	2.37:g.231157413G>A						SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.T512T|SP140_uc002vqm.2_Silent_p.T566T|SP140_uc010fxl.2_Silent_p.T599T	p.T626T	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	20	1993	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	626			SAND.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.1878G>A	CCDS42831.1																																																																																				PASS	0.507	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		30	62	30	62	---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231256845	231256845	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:231256845C>T	ENST00000415673.2	+	12	1094	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SP140L_ENST00000396563.4_Silent_p.F301F|SP140L_ENST00000243810.6_Silent_p.F336F|SP140L_ENST00000444636.1_Silent_p.F336F	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	336	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F336F(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAAATGGTTCACCCCCATGG	0.527																																						uc010fxm.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1006-1008)TTC>TTT		SP140 nuclear body protein-like							110.0	120.0	117.0					2																	231256845		2045	4199	6244	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231256845C>T	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1008C>T	2.37:g.231256845C>T						SP140L_uc010fxo.1_Silent_p.F108F	p.F336F	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			12	1099	+			336			SAND.		Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.1008C>T	CCDS46538.1																																																																																				PASS	0.527	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		29	35	29	35	---	---	---	---
HTR2B	3357	broad.mit.edu	37	2	231973782	231973782	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:231973782C>T	ENST00000258400.3	-	4	1407	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	299					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.E299K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	ATAAGTGTTTCATCACCTGAG	0.468																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)GAA>AAA		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						192.0	184.0	187.0					2																	231973782		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973782C>T		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.895G>A	2.37:g.231973782C>T	ENSP00000258400:p.Glu299Lys					PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.E232K	p.E299K	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1400	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	299			Cytoplasmic (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.895G>A	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428938	0.25726	.	.	ENSG00000135914	ENST00000258400	T	0.60548	0.18	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.288521	0.42172	D	0.000742	T	0.46425	0.1392	L	0.43598	1.365	0.53688	D	0.999978	B;B	0.28470	0.213;0.029	B;B	0.26969	0.075;0.023	T	0.36529	-0.9744	10	0.08179	T	0.78	.	14.1788	0.65559	0.0:0.9263:0.0:0.0737	.	114;299	B3VRC5;P41595	.;5HT2B_HUMAN	K	299	ENSP00000258400:E299K	ENSP00000258400:E299K	E	-	1	0	HTR2B	231682026	0.986000	0.35501	0.727000	0.30756	0.075000	0.17131	2.754000	0.47532	1.446000	0.47643	0.650000	0.86243	GAA		PASS	0.468	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		38	74	38	74	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233037446	233037446	+	Intron	SNP	C	C	T	rs140596642	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:233037446C>T	ENST00000409307.1	+	8	1124				MIR562_ENST00000384894.1_RNA|DIS3L2_ENST00000325385.7_Intron|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		catttgcactccctgtggcaa	0.398																																						hsa-mir-562|MI0003568																			0					0															163.0	141.0	148.0					2																	233037446		1568	3580	5148	SO:0001627	intron_variant	693147							g.chr2:233037446C>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1124+9104C>T	2.37:g.233037446C>T						DIS3L2_uc010fxz.2_Intron|DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_Intron										+									RNA	SNP	ENST00000409307.1	37	c.84C>T	CCDS42834.1																																																																																				PASS	0.398	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		6	23	6	23	---	---	---	---
CHRNG	1146	broad.mit.edu	37	2	233407197	233407197	+	Missense_Mutation	SNP	G	G	A	rs189660100		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:233407197G>A	ENST00000389494.3	+	6	592	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CHRNG_ENST00000389492.3_Missense_Mutation_p.E139K	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	191					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.E191K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCAGACCATCGAGTGGATTTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17072	0.001		0.0	False		,,,				2504	0.0					uc002vsx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GAG>AAG		cholinergic receptor, nicotinic, gamma							95.0	83.0	87.0					2																	233407197		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233407197G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.571G>A	2.37:g.233407197G>A	ENSP00000374145:p.Glu191Lys					CHRNG_uc010fye.1_Missense_Mutation_p.E139K	p.E191K	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	6	592	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	191			Extracellular (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.571G>A	CCDS33400.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.9	5.044116	0.93685	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.79352	-1.26;-1.26	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.060464	0.64402	D	0.000005	T	0.80854	0.4703	L	0.27053	0.805	0.53005	D	0.999963	D;P	0.76494	0.999;0.955	D;P	0.64595	0.927;0.727	T	0.81858	-0.0739	10	0.52906	T	0.07	.	17.3109	0.87210	0.0:0.0:1.0:0.0	.	139;191	Q14DU4;P07510	.;ACHG_HUMAN	K	191;191;139	ENSP00000374145:E191K;ENSP00000374143:E139K	ENSP00000374143:E139K	E	+	1	0	CHRNG	233115441	1.000000	0.71417	0.971000	0.41717	0.961000	0.63080	7.510000	0.81708	2.707000	0.92482	0.563000	0.77884	GAG		PASS	0.572	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		8	33	8	33	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234846100	234846100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:234846100C>T	ENST00000324695.4	+	4	335	c.295C>T	c.(295-297)Cct>Tct	p.P99S	TRPM8_ENST00000409625.1_Missense_Mutation_p.P22S|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.P49S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	99					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.P99S(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)	CAAGGAATTTCCTACCGACGC	0.468																																						uc002vvh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(295-297)CCT>TCT		transient receptor potential cation channel,	Menthol(DB00825)						155.0	149.0	151.0					2																	234846100		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234846100C>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.295C>T	2.37:g.234846100C>T	ENSP00000323926:p.Pro99Ser					TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.P49S|TRPM8_uc002vvj.3_Missense_Mutation_p.P22S	p.P99S	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)	4	335	+		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)	99			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.295C>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256676	0.80246	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.63255	-0.03;-0.03;-0.03	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000001	T	0.72391	0.3454	L	0.58510	1.815	0.80722	D	1	P;B	0.44659	0.84;0.214	P;B	0.53224	0.721;0.091	T	0.71932	-0.4443	10	0.52906	T	0.07	-28.015	18.5218	0.90956	0.0:1.0:0.0:0.0	.	49;99	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	S	99;49;22	ENSP00000323926:P99S;ENSP00000347956:P49S;ENSP00000386771:P22S	ENSP00000323926:P99S	P	+	1	0	TRPM8	234510839	1.000000	0.71417	0.948000	0.38648	0.622000	0.37654	6.749000	0.74883	2.721000	0.93114	0.591000	0.81541	CCT		PASS	0.468	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		30	77	30	77	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238266024	238266024	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:238266024C>T	ENST00000295550.4	-	23	7000	c.6548G>A	c.(6547-6549)gGg>gAg	p.G2183E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1982E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1977E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1983E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1977E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1576E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2183	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2183E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCATCTCTCCCTGGGACACC	0.498																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6547-6549)GGG>GAG		alpha 3 type VI collagen isoform 1 precursor							208.0	207.0	207.0					2																	238266024		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266024C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6548G>A	2.37:g.238266024C>T	ENSP00000295550:p.Gly2183Glu					COL6A3_uc002vwo.2_Missense_Mutation_p.G1977E|COL6A3_uc010znj.1_Missense_Mutation_p.G1576E|COL6A3_uc002vwp.1_5'Flank	p.G2183E	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	23	6833	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2183			Triple-helical region.|Collagen-like 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6548G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362518	0.41902	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-4.61;-5.77;-4.61;-4.61;-4.61;-5.77	5.04	5.04	0.67666	.	0.000000	0.49305	D	0.000147	D	0.99725	0.9893	H	0.99182	4.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96939	0.9686	10	0.87932	D	0	.	17.1902	0.86877	0.0:1.0:0.0:0.0	.	1576;1977;2183	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	2183;1982;1977;1576;1977;1983	ENSP00000295550:G2183E;ENSP00000315609:G1982E;ENSP00000315873:G1977E;ENSP00000418285:G1576E;ENSP00000386844:G1977E;ENSP00000295546:G1983E	ENSP00000295550:G2183E	G	-	2	0	COL6A3	237930763	1.000000	0.71417	0.993000	0.49108	0.840000	0.47671	4.740000	0.62087	2.350000	0.79820	0.591000	0.81541	GGG		PASS	0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		72	157	72	157	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238289675	238289675	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:238289675C>T	ENST00000295550.4	-	5	2232	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	COL6A3_ENST00000347401.3_Missense_Mutation_p.E393K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E388K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E594K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E388K|COL6A3_ENST00000392003.2_Missense_Mutation_p.E187K|COL6A3_ENST00000392004.3_Missense_Mutation_p.E388K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E187K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	594	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E594K(1)|p.E388K(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAGCGATCTCTTCCAGCTCA	0.582																																						uc002vwl.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1780-1782)GAG>AAG		alpha 3 type VI collagen isoform 1 precursor							88.0	82.0	84.0					2																	238289675		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289675C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1780G>A	2.37:g.238289675C>T	ENSP00000295550:p.Glu594Lys					COL6A3_uc002vwo.2_Missense_Mutation_p.E388K|COL6A3_uc010znj.1_Missense_Mutation_p.E187K|COL6A3_uc002vwq.2_Missense_Mutation_p.E388K|COL6A3_uc002vwr.2_Missense_Mutation_p.E187K|COL6A3_uc010znk.1_Missense_Mutation_p.E594K	p.E594K	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	2065	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	594			VWFA 3.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1780G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592439	0.66219	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.81	5.81	0.92471	von Willebrand factor, type A (3);	0.115103	0.38164	N	0.001789	D	0.87869	0.6286	L	0.52266	1.64	0.20074	N	0.999936	P;D;P;P;D;P	0.60160	0.885;0.987;0.639;0.759;0.968;0.811	P;D;P;P;P;B	0.67103	0.666;0.949;0.595;0.734;0.853;0.433	T	0.80522	-0.1345	10	0.33940	T	0.23	.	16.3383	0.83074	0.0:0.8681:0.1319:0.0	.	594;187;187;388;388;594	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	K	594;393;388;187;388;594;388;187;594	ENSP00000295550:E594K;ENSP00000315609:E393K;ENSP00000315873:E388K;ENSP00000418285:E187K;ENSP00000386844:E388K;ENSP00000295546:E594K;ENSP00000375861:E388K;ENSP00000375860:E187K;ENSP00000389539:E594K	ENSP00000295550:E594K	E	-	1	0	COL6A3	237954414	0.207000	0.23482	0.973000	0.42090	0.191000	0.23601	0.724000	0.25954	2.738000	0.93877	0.655000	0.94253	GAG		PASS	0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	25	15	25	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238725710	238725710	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:238725710C>T	ENST00000409864.1	+	3	405	c.151C>T	c.(151-153)Cct>Tct	p.P51S	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.P51S			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	50			D -> H (in dbSNP:rs13393001).			cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.P51S(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTGACTTTTCCTGATGATGA	0.294																																						uc002vxi.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(151-153)CCT>TCT		RNA binding motif protein 44							65.0	63.0	63.0					2																	238725710		1824	4078	5902	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238725710C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.151C>T	2.37:g.238725710C>T	ENSP00000386727:p.Pro51Ser						p.P51S	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	283	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	50					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.151C>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	8.128	0.782465	0.16189	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28255	1.62;1.62	5.62	-1.37	0.09056	.	0.737518	0.12147	N	0.495298	T	0.14485	0.0350	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.21552	-1.0242	10	0.31617	T	0.26	-0.6979	0.9479	0.01369	0.2849:0.2647:0.2778:0.1726	.	50	Q6ZP01	RBM44_HUMAN	S	51	ENSP00000321179:P51S;ENSP00000386727:P51S	ENSP00000321179:P51S	P	+	1	0	RBM44	238390449	0.002000	0.14202	0.001000	0.08648	0.665000	0.39181	0.472000	0.22116	0.039000	0.15632	0.563000	0.77884	CCT		PASS	0.294	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		20	40	20	40	---	---	---	---
PER2	8864	broad.mit.edu	37	2	239159302	239159302	+	Silent	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:239159302A>T	ENST00000254657.3	-	21	3636	c.3357T>A	c.(3355-3357)acT>acA	p.T1119T	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1119					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.T1119T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTTCCATACCAGTGTTCATTT	0.438																																						uc002vyc.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(3355-3357)ACT>ACA		period 2							227.0	190.0	203.0					2																	239159302		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239159302A>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3357T>A	2.37:g.239159302A>T						PER2_uc010znv.1_Silent_p.T1119T	p.T1119T	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	21	3594	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1119					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3357T>A	CCDS2528.1																																																																																				PASS	0.438	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		8	26	8	26	---	---	---	---
PER2	8864	broad.mit.edu	37	2	239161815	239161815	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:239161815G>A	ENST00000254657.3	-	19	3128	c.2849C>T	c.(2848-2850)cCc>cTc	p.P950L	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	950	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.P950L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTCCGGCTGGGGAACTCAGG	0.657																																						uc002vyc.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(2848-2850)CCC>CTC		period 2							51.0	53.0	52.0					2																	239161815		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239161815G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2849C>T	2.37:g.239161815G>A	ENSP00000254657:p.Pro950Leu					PER2_uc010znv.1_Missense_Mutation_p.P950L	p.P950L	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	19	3086	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	950			Pro-rich.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.2849C>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933203	0.34096	.	.	ENSG00000132326	ENST00000254657	T	0.15256	2.44	4.24	4.24	0.50183	.	2.251650	0.02946	U	0.141117	T	0.33644	0.0870	M	0.82323	2.585	0.80722	D	1	P;P	0.48162	0.906;0.906	B;B	0.41571	0.36;0.36	T	0.50857	-0.8778	10	0.72032	D	0.01	-8.5924	14.95	0.71064	0.0:0.0:1.0:0.0	.	950;950	B4DH14;O15055	.;PER2_HUMAN	L	950	ENSP00000254657:P950L	ENSP00000254657:P950L	P	-	2	0	PER2	238826554	1.000000	0.71417	0.009000	0.14445	0.012000	0.07955	4.499000	0.60380	2.290000	0.77057	0.655000	0.94253	CCC		PASS	0.657	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		18	22	18	22	---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239257465	239257465	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:239257465C>T	ENST00000373327.4	+	11	1565	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.P382L|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.P448L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	448	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.P448L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CCAGAAATTCCTAATGAGCTT	0.453																																						uc002vye.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)CCT>CTT		TNF receptor-associated factor 3 interacting							126.0	129.0	128.0					2																	239257465		2203	4300	6503	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239257465C>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1343C>T	2.37:g.239257465C>T	ENSP00000362424:p.Pro448Leu					TRAF3IP1_uc002vyf.2_Missense_Mutation_p.P382L	p.P448L	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	11	1462	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	448			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.1343C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.850075	0.32699	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.13657	2.57;2.57;2.57	5.04	4.17	0.49024	.	0.403897	0.27604	N	0.018633	T	0.16471	0.0396	L	0.50333	1.59	0.09310	N	0.999998	B;B	0.31351	0.32;0.173	B;B	0.40285	0.325;0.176	T	0.16928	-1.0386	10	0.25106	T	0.35	-10.9523	9.4333	0.38624	0.0:0.9018:0.0:0.0982	.	382;448	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	L	382;448;448;382	ENSP00000375851:P382L;ENSP00000362424:P448L;ENSP00000375852:P448L	ENSP00000362424:P448L	P	+	2	0	TRAF3IP1	238922204	0.002000	0.14202	0.003000	0.11579	0.058000	0.15608	1.434000	0.34958	1.134000	0.42165	0.650000	0.86243	CCT		PASS	0.453	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		25	75	25	75	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240078360	240078360	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:240078360G>A	ENST00000345617.3	-	7	1512	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	HDAC4_ENST00000543185.1_5'Flank|HDAC4_ENST00000541256.1_Missense_Mutation_p.L210F|HDAC4_ENST00000553145.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	241	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L241F(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTTTTCCTAAGAGGGAAGTCA	0.612																																						uc002vyk.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(721-723)CTT>TTT		histone deacetylase 4							110.0	110.0	110.0					2																	240078360		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240078360G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.721C>T	2.37:g.240078360G>A	ENSP00000264606:p.Leu241Phe					HDAC4_uc010fyz.1_Missense_Mutation_p.L236F|HDAC4_uc010zoa.1_Missense_Mutation_p.L236F|HDAC4_uc010fza.2_Missense_Mutation_p.L241F|HDAC4_uc010fyy.2_Missense_Mutation_p.L193F|HDAC4_uc010znz.1_Missense_Mutation_p.L124F|HDAC4_uc010fzb.1_5'Flank	p.L241F	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	7	1513	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	241			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.721C>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565982	0.65651	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.46063	0.88;0.88	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.84948	2.725	0.80722	D	1	B;D;B;B;D;D	0.89917	0.015;1.0;0.095;0.045;0.999;1.0	B;D;B;B;D;D	0.91635	0.011;0.996;0.164;0.037;0.949;0.999	T	0.74529	-0.3635	9	.	.	.	.	17.307	0.87198	0.0:0.0:1.0:0.0	.	236;124;210;210;209;241	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	F	241;124;210;124	ENSP00000264606:L241F;ENSP00000443057:L210F	.	L	-	1	0	HDAC4	239743297	1.000000	0.71417	0.170000	0.22879	0.976000	0.68499	8.933000	0.92911	2.153000	0.67306	0.655000	0.94253	CTT		PASS	0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		24	46	24	46	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241465144	241465144	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:241465144G>A	ENST00000272972.3	-	6	1240	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	ANKMY1_ENST00000536462.1_Silent_p.S154S|ANKMY1_ENST00000405002.1_Silent_p.S112S|ANKMY1_ENST00000373318.2_Silent_p.S201S|ANKMY1_ENST00000405523.3_Silent_p.S201S|ANKMY1_ENST00000403283.1_Silent_p.S280S|ANKMY1_ENST00000401804.1_Silent_p.S431S|ANKMY1_ENST00000391987.1_Silent_p.S342S|ANKMY1_ENST00000373320.4_Silent_p.S112S|ANKMY1_ENST00000361678.4_Silent_p.S201S|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000406958.1_Silent_p.S201S	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	342							metal ion binding (GO:0046872)	p.S201S(1)|p.S342S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGGCTTGAAGGACTGGGCGG	0.582																																						uc002vyz.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1024-1026)TCC>TCT		ankyrin repeat and MYND domain containing 1							126.0	109.0	115.0					2																	241465144		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241465144G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1026C>T	2.37:g.241465144G>A						ANKMY1_uc002vza.1_Silent_p.S201S|ANKMY1_uc010fzd.1_Silent_p.S431S|ANKMY1_uc002vzb.1_Silent_p.S201S|ANKMY1_uc002vzc.1_Silent_p.S201S|ANKMY1_uc002vzd.1_Silent_p.S201S|ANKMY1_uc010fze.1_Silent_p.S11S|ANKMY1_uc002vze.2_Silent_p.S103S	p.S342S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1255	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	342					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.1026C>T	CCDS2536.1																																																																																				PASS	0.582	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		8	27	8	27	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241536129	241536129	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:241536129C>T	ENST00000391984.2	+	9	1709	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	CAPN10_ENST00000404753.3_Missense_Mutation_p.P505S|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	505					actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.P505S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GAACACCACCCCCGGGGCAGC	0.662																																						uc002vzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(1)	6						c.(1513-1515)CCC>TCC		calpain 10 isoform a							22.0	26.0	25.0					2																	241536129		1883	4094	5977	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241536129C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1513C>T	2.37:g.241536129C>T	ENSP00000375844:p.Pro505Ser					CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.P377S|CAPN10_uc002vzo.1_Intron|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_Intron|CAPN10_uc002vzq.1_Intron	p.P505S	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	9	1697	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	505					A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1513C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786100	0.31593	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	D;D	0.86627	-2.12;-2.15	4.77	0.148	0.14843	.	0.608334	0.15844	N	0.241889	T	0.74481	0.3722	L	0.41236	1.265	0.09310	N	0.999999	B;B	0.27380	0.04;0.177	B;B	0.16289	0.006;0.015	T	0.56631	-0.7947	10	0.19147	T	0.46	.	3.9508	0.09368	0.1351:0.4331:0.3359:0.0959	.	505;505	B7WPF5;Q9HC96	.;CAN10_HUMAN	S	505	ENSP00000375844:P505S;ENSP00000384422:P505S	ENSP00000375844:P505S	P	+	1	0	CAPN10	241184802	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.669000	0.25142	0.387000	0.25024	0.655000	0.94253	CCC		PASS	0.662	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		5	20	5	20	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241536287	241536287	+	Silent	SNP	C	C	T	rs577695842		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:241536287C>T	ENST00000391984.2	+	9	1867	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V	CAPN10_ENST00000404753.3_Silent_p.V557V|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	557	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.V557V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CCCGCTGCGTCCGCATCACTC	0.672																																						uc002vzk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|lung(1)	6						c.(1669-1671)GTC>GTT		calpain 10 isoform a							30.0	37.0	35.0					2																	241536287		2052	4189	6241	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241536287C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1671C>T	2.37:g.241536287C>T						CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.V429V|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.V557V	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	9	1855	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	557			Domain III 2.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1671C>T	CCDS42838.1																																																																																				PASS	0.672	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		5	14	5	14	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241689958	241689958	+	Silent	SNP	G	G	A	rs190534883	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:241689958G>A	ENST00000320389.7	-	26	2720	c.2562C>T	c.(2560-2562)ttC>ttT	p.F854F	KIF1A_ENST00000498729.2_Silent_p.F955F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	854					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.F854F(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCAGGTACACGAAGGCCCTGG	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		18813	0.001		0.001	False		,,,				2504	0.0					uc002vzy.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2560-2562)TTC>TTT		axonal transport of synaptic vesicles							49.0	56.0	53.0					2																	241689958		2135	4246	6381	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241689958G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2562C>T	2.37:g.241689958G>A						KIF1A_uc010fzk.2_Silent_p.F955F|KIF1A_uc002vzz.1_Silent_p.F955F	p.F854F	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2708	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	854					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2562C>T	CCDS46561.1																																																																																				PASS	0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		8	18	8	18	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2908551	2908551	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:2908551G>A	ENST00000397461.1	+	7	954	c.570G>A	c.(568-570)ggG>ggA	p.G190G	CNTN4_ENST00000418658.1_Silent_p.G190G|CNTN4_ENST00000427331.1_Silent_p.G190G|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	190	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGATGTTGGGAATTATACCT	0.408																																						uc003bpc.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(568-570)GGG>GGA		contactin 4 isoform a precursor							123.0	114.0	117.0					3																	2908551		1837	4086	5923	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2908551G>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.570G>A	3.37:g.2908551G>A						CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.G190G	p.G190G	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	7	791	+		Ovarian(110;0.156)	190			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.570G>A	CCDS43041.1																																																																																				PASS	0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			30	17	30	17	---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3887225	3887225	+	Silent	SNP	C	C	T	rs267599793		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:3887225C>T	ENST00000319331.3	+	2	1661	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	300						integral component of membrane (GO:0016021)		p.L300L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGGCGAGCTCGTTTCTGTCG	0.453																																						uc003bpt.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(898-900)CTC>CTT		leucine rich repeat neuronal 1 precursor							64.0	68.0	67.0					3																	3887225		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887225C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.900C>T	3.37:g.3887225C>T						SUMF1_uc003bps.1_Intron	p.L300L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1661	+			300			Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.900C>T	CCDS33685.1																																																																																				PASS	0.453	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		42	31	42	31	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7620869	7620869	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:7620869C>T	ENST00000357716.4	+	8	2550	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F	GRM7_ENST00000389336.4_Missense_Mutation_p.S759F|GRM7_ENST00000402647.2_Missense_Mutation_p.S759F|GRM7_ENST00000403881.1_Missense_Mutation_p.S759F|GRM7_ENST00000486284.1_Missense_Mutation_p.S759F|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	759					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.S759F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATCATTTGCTCCTTGGGATAT	0.448																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(2275-2277)TCC>TTC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						134.0	121.0	126.0					3																	7620869		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620869C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2276C>T	3.37:g.7620869C>T	ENSP00000350348:p.Ser759Phe					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.S759F|GRM7_uc003bql.2_Missense_Mutation_p.S759F|GRM7_uc003bqn.1_Missense_Mutation_p.S342F|GRM7_uc010hch.1_Missense_Mutation_p.S270F	p.S759F	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2550	+			759			Helical; Name=5; (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2276C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397584	0.83120	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.80982	2.52	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.997;0.999;0.996;0.947	D;D;D;D;P	0.87578	0.989;0.994;0.998;0.993;0.892	D	0.93052	0.6466	10	0.37606	T	0.19	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	759;759;514;759;759	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	F	759	ENSP00000350348:S759F;ENSP00000417536:S759F;ENSP00000373987:S759F;ENSP00000385664:S759F;ENSP00000384585:S759F	ENSP00000350348:S759F	S	+	2	0	GRM7	7595869	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		PASS	0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		37	24	37	24	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9517345	9517345	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:9517345C>T	ENST00000406341.1	+	22	4089	c.3899C>T	c.(3898-3900)tCc>tTc	p.S1300F	SETD5_ENST00000302463.6_Missense_Mutation_p.S1202F|SETD5_ENST00000402466.1_Missense_Mutation_p.S1202F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1319F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1300F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1300	Ser-rich.							p.S1300F(1)|p.S1202F(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)		ACGTCCTATTCCAGCCCCGCC	0.552																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3898-3900)TCC>TTC		SET domain containing 5							58.0	56.0	56.0					3																	9517345		1893	4116	6009	SO:0001583	missense	55209							g.chr3:9517345C>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.3899C>T	3.37:g.9517345C>T	ENSP00000383939:p.Ser1300Phe					SETD5_uc003bru.2_Missense_Mutation_p.S1202F|SETD5_uc003brv.2_Missense_Mutation_p.S1189F|SETD5_uc010hck.2_Missense_Mutation_p.S782F|SETD5_uc003brx.2_Missense_Mutation_p.S969F	p.S1300F	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	23	4334	+	Medulloblastoma(99;0.227)		1300			Ser-rich.		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.3899C>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937711	0.73557	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.94457	-3.09;-3.43;-3.09;-3.06;-3.43	5.49	5.49	0.81192	.	0.164637	0.42821	D	0.000643	D	0.93449	0.7910	N	0.24115	0.695	0.42527	D	0.993029	P;P;P	0.51537	0.946;0.83;0.799	P;P;B	0.52957	0.714;0.598;0.424	D	0.94444	0.7661	10	0.72032	D	0.01	-3.8505	18.7261	0.91714	0.0:1.0:0.0:0.0	.	969;1202;1300	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	F	1300;1202;1300;1319;1202	ENSP00000385852:S1300F;ENSP00000384429:S1202F;ENSP00000383939:S1300F;ENSP00000384114:S1319F;ENSP00000302028:S1202F	ENSP00000302028:S1202F	S	+	2	0	SETD5	9492345	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.886000	0.69743	2.735000	0.93741	0.591000	0.81541	TCC		PASS	0.552	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		34	24	34	24	---	---	---	---
CRELD1	78987	broad.mit.edu	37	3	9986197	9986197	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:9986197C>T	ENST00000383811.3	+	10	1796	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	PRRT3-AS1_ENST00000431558.1_RNA|CRELD1_ENST00000397170.3_Silent_p.A399A|CRELD1_ENST00000326434.5_3'UTR|CRELD1_ENST00000452070.1_Silent_p.A399A	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	399					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.A399A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGTGGCGGCCATGACTGGCT	0.592																																						uc003bug.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1195-1197)GCC>GCT		cysteine-rich with EGF-like domains 1 isoform 3							123.0	106.0	112.0					3																	9986197		2203	4300	6503	SO:0001819	synonymous_variant	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9986197C>T	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.1197C>T	3.37:g.9986197C>T						CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_3'UTR|CRELD1_uc003buh.2_Silent_p.A399A|CRELD1_uc003bui.2_Silent_p.A399A|CRELD1_uc003buj.2_RNA	p.A399A	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			11	1315	+			399			Helical; (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Silent	SNP	ENST00000383811.3	37	c.1197C>T	CCDS2593.1																																																																																				PASS	0.592	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		33	8	33	8	---	---	---	---
FANCD2OS	115795	broad.mit.edu	37	3	10146192	10146192	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:10146192C>T	ENST00000450660.2	-	2	483	c.267G>A	c.(265-267)agG>agA	p.R89R	FANCD2OS_ENST00000524279.1_Silent_p.R89R	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	89								p.R89R(1)									GCTGGGGCTTCCTGACCAGTC	0.532																																						uc003buz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(265-267)AGG>AGA		hypothetical protein LOC115795							124.0	114.0	117.0					3																	10146192		2203	4300	6503	SO:0001819	synonymous_variant	115795							g.chr3:10146192C>T	AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.267G>A	3.37:g.10146192C>T						C3orf24_uc003bva.1_Silent_p.R89R	p.R89R	NM_173472	NP_775743	Q96PS1	CC024_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.196)	2	492	-			89						Silent	SNP	ENST00000450660.2	37	c.267G>A	CCDS2596.1																																																																																				PASS	0.532	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		27	20	27	20	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10290945	10290945	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:10290945C>A	ENST00000287652.4	+	2	1112	c.61C>A	c.(61-63)Cgc>Agc	p.R21S	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.R21S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	21					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R21S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGGGTGTCCCCGCAAGCGCAG	0.682																																						uc003bvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(61-63)CGC>AGC		TatD DNase domain containing 2							46.0	48.0	47.0					3																	10290945		2203	4298	6501	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10290945C>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.61C>A	3.37:g.10290945C>A	ENSP00000287652:p.Arg21Ser					TATDN2_uc003bvf.2_Missense_Mutation_p.R21S|TATDN2_uc011atr.1_Missense_Mutation_p.R21S|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.R21S	NM_014760	NP_055575	Q93075	TATD2_HUMAN			2	642	+			21					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.61C>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	4.988	0.183506	0.09495	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.22945	1.93;1.93	3.77	1.54	0.23209	.	.	.	.	.	T	0.15522	0.0374	L	0.31294	0.92	0.22648	N	0.998897	B	0.02656	0.0	B	0.01281	0.0	T	0.36040	-0.9764	9	0.10636	T	0.68	-6.7392	8.478	0.33025	0.4489:0.5511:0.0:0.0	.	21	Q93075	TATD2_HUMAN	S	21	ENSP00000287652:R21S;ENSP00000408736:R21S	ENSP00000287652:R21S	R	+	1	0	TATDN2	10265945	0.997000	0.39634	0.978000	0.43139	0.889000	0.51656	0.339000	0.19875	0.243000	0.21327	-0.363000	0.07495	CGC		PASS	0.682	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		5	25	5	25	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312277	10312277	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:10312277C>T	ENST00000287652.4	+	4	2462	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.P471S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	471					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.P471S(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGATGCCTCCGCGTCCTTG	0.527																																						uc003bvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(1411-1413)CCG>TCG		TatD DNase domain containing 2							64.0	59.0	60.0					3																	10312277		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312277C>T	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1411C>T	3.37:g.10312277C>T	ENSP00000287652:p.Pro471Ser					TATDN2_uc003bvf.2_Missense_Mutation_p.P471S|TATDN2_uc011atr.1_Missense_Mutation_p.P471S|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.P471S	NM_014760	NP_055575	Q93075	TATD2_HUMAN			4	1992	+			471					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1411C>T	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585423	0.03827	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.52526	0.66;0.66	5.0	3.13	0.36017	.	1.572910	0.04111	N	0.314542	T	0.40222	0.1108	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.29518	-1.0009	10	0.56958	D	0.05	-1.3934	8.0261	0.30438	0.0:0.7455:0.1647:0.0898	.	471	Q93075	TATD2_HUMAN	S	471	ENSP00000287652:P471S;ENSP00000408736:P471S	ENSP00000287652:P471S	P	+	1	0	TATDN2	10287277	0.006000	0.16342	0.005000	0.12908	0.186000	0.23388	1.174000	0.31932	1.207000	0.43291	0.644000	0.83932	CCG		PASS	0.527	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		21	21	21	21	---	---	---	---
GHRL	51738	broad.mit.edu	37	3	10331778	10331778	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:10331778G>A	ENST00000335542.8	-	3	957	c.87C>T	c.(85-87)agC>agT	p.S29S	GHRL_ENST00000449238.2_Intron|GHRL_ENST00000446937.2_Intron|GHRL_ENST00000450603.1_Silent_p.S29S|GHRL_ENST00000422159.1_Silent_p.S29S|GHRL_ENST00000287656.7_Silent_p.S29S|GHRL_ENST00000437422.2_Intron|GHRL_ENST00000430179.1_Silent_p.S29S|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449554.2_Silent_p.S29S|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000429122.1_Silent_p.S29S|GHRL_ENST00000439975.2_Intron|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000457360.1_Silent_p.S29S|GHRL_ENST00000476283.1_5'Flank			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	29					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)	p.S29S(1)		breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						GGTGTTCAGGGCTCAGGAAGC	0.632																																						uc010hdf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(85-87)AGC>AGT		ghrelin/obestatin isoform 1 preproprotein							33.0	32.0	33.0					3																	10331778		2203	4300	6503	SO:0001819	synonymous_variant	51738				actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity	g.chr3:10331778G>A	AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"""Endogenous ligands"""	18129	protein-coding gene	gene with protein product	"""prepro-appetite regulatory hormone"""	605353	"""ghrelin, growth hormone secretagogue receptor ligand"""			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.87C>T	3.37:g.10331778G>A						GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_5'Flank|GHRL_uc010hdb.1_5'Flank|GHRL_uc003bvj.1_Silent_p.S29S|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Intron|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Silent_p.S29S|GHRL_uc010hdi.2_Silent_p.S29S|GHRL_uc010hdh.2_Silent_p.S29S|GHRL_uc010hdj.2_Intron|GHRLOS_uc011auk.1_Intron	p.S29S	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN			2	222	-			29					A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Silent	SNP	ENST00000335542.8	37	c.87C>T	CCDS33700.1																																																																																				PASS	0.632	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000339625.1	NM_016362		6	6	6	6	---	---	---	---
MKRN2	23609	broad.mit.edu	37	3	12611664	12611665	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:12611664_12611665CC>TT	ENST00000170447.7	+	3	387_388	c.250_251CC>TT	c.(250-252)CCt>TTt	p.P84F	MKRN2_ENST00000411987.1_Missense_Mutation_p.P41F|MKRN2_ENST00000448482.1_Missense_Mutation_p.P82F	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	84					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P84L(1)|p.P84F(1)|p.P84S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TCCTCACCCTCCTTCCGAGGTC	0.535																																						uc003bxd.2																			3	Substitution - Missense(3)		lung(3)		0						c.(250-252)CCT>TCT|c.(250-252)CCT>CTT		makorin ring finger protein 2																																				SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12611664C>T|g.chr3:12611665C>T		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	Exception_encountered	3.37:g.12611664_12611665delinsTT	ENSP00000170447:p.Pro84Phe					MKRN2_uc003bxe.2_Missense_Mutation_p.P82S|MKRN2_uc011aus.1_Missense_Mutation_p.P41S|MKRN2_uc003bxe.2_Missense_Mutation_p.P82L|MKRN2_uc011aus.1_Missense_Mutation_p.P41L	p.P84S|p.P84L	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			3	306|307	+			84					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	c.250C>T|c.251C>T	CCDS33702.1																																																																																				PASS	0.535	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		15	12	15	12	---	---	---	---
C3orf20	84077	broad.mit.edu	37	3	14798904	14798904	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:14798904C>T	ENST00000253697.3	+	13	2419	c.1967C>T	c.(1966-1968)cCc>cTc	p.P656L	C3orf20_ENST00000435614.1_Missense_Mutation_p.P534L|C3orf20_ENST00000412910.1_Missense_Mutation_p.P534L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	656						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.P656L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGGCGCAGCCCCACCAGGTGG	0.667																																						uc003byy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1966-1968)CCC>CTC		hypothetical protein LOC84077							26.0	28.0	27.0					3																	14798904		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14798904C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1967C>T	3.37:g.14798904C>T	ENSP00000253697:p.Pro656Leu					C3orf20_uc003byz.2_Missense_Mutation_p.P534L|C3orf20_uc003bza.2_Missense_Mutation_p.P534L|C3orf20_uc003bzb.1_Missense_Mutation_p.P157L|C3orf20_uc011avj.1_5'UTR	p.P656L	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			13	2371	+			656					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.1967C>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852838	0.17106	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08370	3.39;3.1;3.1	4.95	4.07	0.47477	.	0.564878	0.16220	N	0.224073	T	0.09774	0.0240	M	0.63428	1.95	0.09310	N	0.999994	P;P	0.42518	0.557;0.782	B;B	0.34242	0.178;0.178	T	0.15435	-1.0437	10	0.72032	D	0.01	-10.0663	10.6331	0.45549	0.1921:0.8079:0.0:0.0	.	534;656	Q8ND61-2;Q8ND61	.;CC020_HUMAN	L	656;534;534	ENSP00000253697:P656L;ENSP00000402933:P534L;ENSP00000396081:P534L	ENSP00000253697:P656L	P	+	2	0	C3orf20	14773908	0.004000	0.15560	0.120000	0.21714	0.112000	0.19704	1.639000	0.37176	1.053000	0.40415	0.297000	0.19635	CCC		PASS	0.667	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		7	11	7	11	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14862877	14862877	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:14862877C>T	ENST00000285046.5	+	1	2409	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	FGD5_ENST00000543601.1_Missense_Mutation_p.P526S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	767					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.P526S(1)|p.P767S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATCTCCTTCCCCAGCGCTGA	0.597																																						uc003bzc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|pancreas(1)	5						c.(2299-2301)CCC>TCC		FYVE, RhoGEF and PH domain containing 5							158.0	168.0	165.0					3																	14862877		2053	4201	6254	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862877C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2299C>T	3.37:g.14862877C>T	ENSP00000285046:p.Pro767Ser					FGD5_uc011avk.1_Missense_Mutation_p.P767S	p.P767S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	2409	+			767					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2299C>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515756	0.85495	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.79554	-1.28;-1.08	5.03	5.03	0.67393	.	0.105490	0.42548	D	0.000685	D	0.89694	0.6789	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90578	0.4527	10	0.66056	D	0.02	-28.967	18.7482	0.91802	0.0:1.0:0.0:0.0	.	526;767	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	S	767;526	ENSP00000285046:P767S;ENSP00000445949:P526S	ENSP00000285046:P767S	P	+	1	0	FGD5	14837881	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.240000	0.78192	2.495000	0.84180	0.591000	0.81541	CCC		PASS	0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		81	66	81	66	---	---	---	---
NR2C2	7182	broad.mit.edu	37	3	15064743	15064743	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:15064743G>T	ENST00000425241.1	+	6	955	c.593G>T	c.(592-594)cGg>cTg	p.R198L	NR2C2_ENST00000323373.6_Missense_Mutation_p.R217L|NR2C2_ENST00000406272.2_Missense_Mutation_p.R198L|NR2C2_ENST00000393102.3_Missense_Mutation_p.R198L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	198					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R217L(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GATGTGCAACGGGAGAAACCA	0.423																																						uc003bzj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)CGG>CTG		nuclear receptor subfamily 2, group C, member 2							128.0	121.0	124.0					3																	15064743		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15064743G>T	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.593G>T	3.37:g.15064743G>T	ENSP00000388387:p.Arg198Leu					NR2C2_uc003bzi.2_Missense_Mutation_p.R217L	p.R198L	NM_003298	NP_003289	P49116	NR2C2_HUMAN			6	810	+			198					A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.593G>T		.	.	.	.	.	.	.	.	.	.	G	13.00	2.107048	0.37145	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.94793	-3.51;-3.52;-3.51;-3.51	5.87	5.0	0.66597	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.71036	2.16	0.80722	D	1	P;P	0.47034	0.618;0.889	B;P	0.45310	0.382;0.476	D	0.94523	0.7729	10	0.54805	T	0.06	.	16.8291	0.85939	0.0:0.0:0.8703:0.1297	.	198;217	P49116;F2YGU2	NR2C2_HUMAN;.	L	198;217;198;198	ENSP00000388387:R198L;ENSP00000320447:R217L;ENSP00000376814:R198L;ENSP00000384463:R198L	ENSP00000320447:R217L	R	+	2	0	NR2C2	15039747	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	9.414000	0.97362	1.615000	0.50252	-0.169000	0.13324	CGG		PASS	0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		4	46	4	46	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15131933	15131933	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:15131933G>A	ENST00000253699.3	-	5	875	c.262C>T	c.(262-264)Cct>Tct	p.P88S	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.P88S|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P88S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	88					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.P88S(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						CACATGTAAGGATCAACCCCT	0.433																																						uc003bzm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(262-264)CCT>TCT		FYVE-finger-containing Rab5 effector protein							167.0	152.0	157.0					3																	15131933		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15131933G>A	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.262C>T	3.37:g.15131933G>A	ENSP00000253699:p.Pro88Ser					ZFYVE20_uc010hek.1_Missense_Mutation_p.P88S|ZFYVE20_uc011avn.1_Missense_Mutation_p.P88S	p.P88S	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			5	876	-			88					B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.262C>T	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671323	0.88348	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.72394	0.56;0.56;-0.65	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81664	0.4870	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.63381	0.888;0.914	T	0.82220	-0.0565	10	0.66056	D	0.02	-14.3477	19.8437	0.96701	0.0:0.0:1.0:0.0	.	88;88	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	S	88	ENSP00000253699:P88S;ENSP00000422551:P88S;ENSP00000391039:P88S	ENSP00000253699:P88S	P	-	1	0	ZFYVE20	15106937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.693000	0.91896	0.585000	0.79938	CCT		PASS	0.433	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		40	27	40	27	---	---	---	---
CAPN7	23473	broad.mit.edu	37	3	15288955	15288955	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:15288955G>T	ENST00000253693.2	+	19	2448	c.2195G>T	c.(2194-2196)cGa>cTa	p.R732L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	732	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.R732L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATTGAGCTACGAGGACCAAGG	0.358																																						uc003bzn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2194-2196)CGA>CTA		calpain 7							84.0	83.0	83.0					3																	15288955		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15288955G>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2195G>T	3.37:g.15288955G>T	ENSP00000253693:p.Arg732Leu						p.R732L	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN			19	2465	+			732			Domain N.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2195G>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077895	0.76528	.	.	ENSG00000131375	ENST00000253693	D	0.85955	-2.05	5.57	5.57	0.84162	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.098532	0.64402	D	0.000002	D	0.82724	0.5099	L	0.49640	1.575	0.80722	D	1	P	0.48162	0.906	B	0.40134	0.32	D	0.83359	0.0001	10	0.41790	T	0.15	-23.2769	19.15	0.93483	0.0:0.0:1.0:0.0	.	732	Q9Y6W3	CAN7_HUMAN	L	732	ENSP00000253693:R732L	ENSP00000253693:R732L	R	+	2	0	CAPN7	15263959	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.984000	0.88150	2.640000	0.89533	0.655000	0.94253	CGA		PASS	0.358	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		4	70	4	70	---	---	---	---
PLCL2	23228	broad.mit.edu	37	3	17051498	17051498	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:17051498C>T	ENST00000418129.2	+	2	747	c.282C>T	c.(280-282)gtC>gtT	p.V94V	PLCL2_ENST00000432376.1_Silent_p.V94V|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.V94V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	220					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V94V(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGTTTTCCGTCATATATGGAG	0.413																																						uc011awc.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(634-636)GTC>GTT		phospholipase C-like 2 isoform 1							125.0	124.0	124.0					3																	17051498		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051498C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.282C>T	3.37:g.17051498C>T						PLCL2_uc010het.1_Silent_p.V94V|PLCL2_uc011awd.1_Silent_p.V94V	p.V212V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	741	+			220			PH.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.636C>T	CCDS33713.1																																																																																				PASS	0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			43	34	43	34	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20178441	20178441	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:20178441G>T	ENST00000263754.4	+	12	2212	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	586	Acetyl-CoA binding. {ECO:0000269|PubMed:10393169}.|N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.G586V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAGGGCTATGGAACACACCTG	0.343																																						uc003cbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1756-1758)GGA>GTA		K(lysine) acetyltransferase 2B							114.0	99.0	104.0					3																	20178441		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20178441G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1757G>T	3.37:g.20178441G>T	ENSP00000263754:p.Gly586Val					hsa-mir-3135|MI0014156_5'Flank	p.G586V	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			12	2203	+			586			N-acetyltransferase.		Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.1757G>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897563	0.91962	.	.	ENSG00000114166	ENST00000263754	T	0.60672	0.17	5.44	5.44	0.79542	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.83667	0.5304	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87847	0.2655	10	0.87932	D	0	-19.3125	19.6391	0.95749	0.0:0.0:1.0:0.0	.	586	Q92831	KAT2B_HUMAN	V	586	ENSP00000263754:G586V	ENSP00000263754:G586V	G	+	2	0	KAT2B	20153445	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.813000	0.99286	2.715000	0.92844	0.655000	0.94253	GGA		PASS	0.343	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		18	12	18	12	---	---	---	---
THRB	7068	broad.mit.edu	37	3	24164475	24164475	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:24164475C>A	ENST00000356447.4	-	10	1570	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	THRB_ENST00000396671.2_Missense_Mutation_p.R429L|THRB_ENST00000280696.5_Missense_Mutation_p.R444L|THRB_ENST00000416420.1_Missense_Mutation_p.R429L	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	429	Interaction with NR2F6.|Ligand-binding.		R -> Q (in PRTH). {ECO:0000269|PubMed:7528740}.		female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R429L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCCTATCATCCGCAGATCTGT	0.493																																					Melanoma(21;896 1043 15021 37958)	uc003ccx.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|pancreas(1)	3	GRCh37	CM941319	THRB	M		c.(1285-1287)CGG>CTG		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						133.0	142.0	139.0					3																	24164475		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24164475C>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1286G>T	3.37:g.24164475C>A	ENSP00000348827:p.Arg429Leu					THRB_uc010hfe.2_Missense_Mutation_p.R429L|THRB_uc003ccy.3_Missense_Mutation_p.R429L|THRB_uc003ccz.3_Missense_Mutation_p.R424L	p.R429L	NM_001128176	NP_001121648	P10828	THB_HUMAN			11	1635	-			429		R -> Q (in PRTH).	Ligand-binding.|Interaction with NR2F6.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.1286G>T	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445463	0.96187	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.91	5.91	0.95273	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.64402	D	0.000006	D	0.99130	0.9700	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99589	1.0975	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	429	P10828	THB_HUMAN	L	429;429;429;444	ENSP00000379904:R429L;ENSP00000348827:R429L;ENSP00000414444:R429L;ENSP00000280696:R444L	ENSP00000280696:R444L	R	-	2	0	THRB	24139479	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CGG		PASS	0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		4	49	4	49	---	---	---	---
GADL1	339896	broad.mit.edu	37	3	30827866	30827867	+	Missense_Mutation	DNP	CC	CC	TT	rs572718942	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:30827866_30827867CC>TT	ENST00000282538.5	-	13	1432_1433	c.1282_1283GG>AA	c.(1282-1284)GGa>AAa	p.G428K		NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	428					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G244K(1)|p.G244E(1)|p.G428R(1)|p.G428K(1)|p.G428E(1)|p.G244R(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TAACTTGAATCCTTCTCTTTTC	0.297																																						uc003cep.2																			6	Substitution - Missense(6)		lung(6)		0						c.(1282-1284)GGA>GAA|c.(1282-1284)GGA>AGA		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30827866C>T|g.chr3:30827867C>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1282_1283delinsTT	3.37:g.30827866_30827867delinsTT	ENSP00000282538:p.Gly428Lys						p.G428E|p.G428R	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			13	1330|1329	-			428						Missense_Mutation	SNP	ENST00000282538.5	37	c.1283G>A|c.1282G>A	CCDS2649.2																																																																																				PASS	0.297	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		8	12|13	8	12	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36484932	36484932	+	Missense_Mutation	SNP	G	G	A	rs372584922		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:36484932G>A	ENST00000273183.3	+	2	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R63Q	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	63					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.R63Q(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTTCCAGCGAACCAACAGC	0.512																																						uc003cgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(187-189)CGA>CAA		SH3 and cysteine rich domain		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	76.0	83.0		188	3.1	0.8	3		83	0,8600		0,0,4300	no	missense	STAC	NM_003149.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	63/403	36484932	1,13005	2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36484932G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.188G>A	3.37:g.36484932G>A	ENSP00000273183:p.Arg63Gln					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R63Q	p.R63Q	NM_003149	NP_003140	Q99469	STAC_HUMAN			2	227	+			63					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.188G>A	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258884	0.39896	2.27E-4	0.0	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.77877	-1.13;0.48;0.38	5.02	3.14	0.36123	.	0.426572	0.22142	N	0.064024	T	0.69975	0.3171	L	0.52573	1.65	0.31769	N	0.63233	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.67810	-0.5574	10	0.44086	T	0.13	.	9.9333	0.41537	0.1766:0.0:0.8234:0.0	.	63;63	E9PEA7;Q99469	.;STAC_HUMAN	Q	63;63;52	ENSP00000273183:R63Q;ENSP00000393713:R63Q;ENSP00000398403:R52Q	ENSP00000273183:R63Q	R	+	2	0	STAC	36459936	1.000000	0.71417	0.844000	0.33320	0.522000	0.34438	4.101000	0.57769	0.563000	0.29222	0.650000	0.86243	CGA		PASS	0.512	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		25	15	25	15	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36759619	36759619	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:36759619G>A	ENST00000416516.2	-	4	2125	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	545	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I545I(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACACAGCAGGATATAGAGGA	0.572																																						uc003cgi.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1633-1635)ATC>ATT		doublecortin-like kinase 3							155.0	168.0	164.0					3																	36759619		2114	4272	6386	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36759619G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1635C>T	3.37:g.36759619G>A							p.I545I	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			4	2126	-			545			Protein kinase.			Silent	SNP	ENST00000416516.2	37	c.1635C>T	CCDS43064.1																																																																																				PASS	0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		71	62	71	62	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37376547	37376547	+	Missense_Mutation	SNP	C	C	T	rs143296928	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:37376547C>T	ENST00000361924.2	+	17	6570	c.6196C>T	c.(6196-6198)Cgt>Tgt	p.R2066C	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R2088C|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2066	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.R2066C(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTAAAGGCTCGTGAAGAAGA	0.393													C|||	7	0.00139776	0.0	0.0014	5008	,	,		16550	0.0		0.001	False		,,,				2504	0.0051					uc003cgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6196-6198)CGT>TGT		golgi autoantigen, golgin subfamily a, 4		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	35.0	37.0	37.0		6262,6196	5.5	1.0	3	dbSNP_134	37	12,8588	8.4+/-32.0	0,12,4288	yes	missense,missense	GOLGA4	NM_001172713.1,NM_002078.4	180,180	0,12,6491	TT,TC,CC		0.1395,0.0,0.0923	probably-damaging,probably-damaging	2088/2244,2066/2231	37376547	12,12994	2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37376547C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6196C>T	3.37:g.37376547C>T	ENSP00000354486:p.Arg2066Cys					GOLGA4_uc003cgw.2_Missense_Mutation_p.R2088C|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.R1947C	p.R2066C	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			17	6500	+			2066			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6196C>T	CCDS2666.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.4	4.527076	0.85706	0.0	0.001395	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.38240	1.15;1.49;1.36	5.49	5.49	0.81192	.	0.000000	0.36555	N	0.002528	T	0.63390	0.2507	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.65429	-0.6170	10	0.56958	D	0.05	.	18.3655	0.90389	0.0:1.0:0.0:0.0	.	2066;2088;2066	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	C	2066;2088;1937	ENSP00000354486:R2066C;ENSP00000349305:R2088C;ENSP00000405842:R1937C	ENSP00000349305:R2088C	R	+	1	0	GOLGA4	37351551	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.767000	0.68850	2.577000	0.86979	0.655000	0.94253	CGT		PASS	0.393	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	4	9	4	---	---	---	---
PLCD1	5333	broad.mit.edu	37	3	38052853	38052853	+	Silent	SNP	G	G	A	rs577077909		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38052853G>A	ENST00000334661.4	-	5	864	c.642C>T	c.(640-642)atC>atT	p.I214I	PLCD1_ENST00000463876.1_Silent_p.I235I|PLCD1_ENST00000479619.1_5'UTR	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	214					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)	p.I214I(2)|p.I235I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGGTGCGGTCGATCTCCACCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18512	0.0		0.0	False		,,,				2504	0.001					uc003chn.2																			4	Substitution - coding silent(4)		lung(2)|endometrium(2)	skin(1)	1						c.(640-642)ATC>ATT		phospholipase C, delta 1 isoform 2							57.0	60.0	59.0					3																	38052853		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38052853G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.642C>T	3.37:g.38052853G>A						PLCD1_uc003chm.2_Silent_p.I235I	p.I214I	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	766	-			214					B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.642C>T	CCDS2671.1																																																																																				PASS	0.642	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			16	14	16	14	---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38401830	38401830	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38401830G>A	ENST00000207870.3	+	3	231	c.141G>A	c.(139-141)ggG>ggA	p.G47G	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	47					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.G47G(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GTTCTTGCAGGACTCAGGGTG	0.512																																						uc003cic.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(139-141)GGG>GGA		xylulokinase							222.0	181.0	195.0					3																	38401830		2203	4300	6503	SO:0001630	splice_region_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38401830G>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.141-1G>A	3.37:g.38401830G>A						XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR	p.G47G	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	3	250	+			47					B2RAW4|B4DDT2|B9EH64	Silent	SNP	ENST00000207870.3	37	c.141G>A	CCDS2678.1																																																																																				PASS	0.512	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	Silent	28	26	28	26	---	---	---	---
EXOG	9941	broad.mit.edu	37	3	38539252	38539253	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38539252_38539253CC>TT	ENST00000287675.5	+	2	392_393	c.296_297CC>TT	c.(295-297)tCC>tTT	p.S99F	EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	99					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S99F(2)|p.S99S(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GAACATATTTCCAAAAGCAAGA	0.371																																						uc003cih.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(295-297)TCC>TTC|c.(295-297)TCC>TCT		endo/exonuclease (5'-3'), endonuclease G-like																																				SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38539252C>T|g.chr3:38539253C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	Exception_encountered	3.37:g.38539252_38539253delinsTT	ENSP00000287675:p.Ser99Phe					EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron	p.S99F|p.S99S	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			2	392|393	+			99					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation|Silent	SNP	ENST00000287675.5	37	c.296C>T|c.297C>T	CCDS2680.1																																																																																				PASS	0.371	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		29|28	21	28	21	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38645521	38645521	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38645521G>A	ENST00000333535.4	-	12	1721	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	SCN5A_ENST00000423572.2_Silent_p.S524S|SCN5A_ENST00000455624.2_Silent_p.S524S|SCN5A_ENST00000451551.2_Silent_p.S524S|SCN5A_ENST00000413689.1_Silent_p.S524S|SCN5A_ENST00000414099.2_Silent_p.S524S|SCN5A_ENST00000449557.2_Silent_p.S524S|SCN5A_ENST00000443581.1_Silent_p.S524S|SCN5A_ENST00000450102.2_Silent_p.S524S|SCN5A_ENST00000425664.1_Silent_p.S524S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	524			S -> Y (found in patients with atrial fibrillation; dbSNP:rs41313691). {ECO:0000269|PubMed:18378609}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.S524S(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCGCGGCTGGAACGTGGCT	0.557																																						uc003cio.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(1570-1572)TCC>TCT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						30.0	31.0	31.0					3																	38645521		2037	4192	6229	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645521G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1572C>T	3.37:g.38645521G>A						SCN5A_uc003cin.2_Silent_p.S524S|SCN5A_uc003cil.3_Silent_p.S524S|SCN5A_uc010hhi.2_Silent_p.S524S|SCN5A_uc010hhk.2_Silent_p.S524S|SCN5A_uc011ayr.1_Silent_p.S524S|SCN5A_uc010hhj.1_Silent_p.S135S	p.S524S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1766	-	Medulloblastoma(35;0.163)		524					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1572C>T	CCDS46796.1																																																																																				PASS	0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	2	5	2	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38768417	38768417	+	Missense_Mutation	SNP	G	G	A	rs267599803		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38768417G>A	ENST00000449082.2	-	16	2766	c.2767C>T	c.(2767-2769)Cgt>Tgt	p.R923C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	923					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R923C(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTTTGGTACGATGGCCAAAG	0.587																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(2767-2769)CGT>TGT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	118.0	119.0		2767	2.6	0.0	3		119	0,8600		0,0,4300	no	missense	SCN10A	NM_006514.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	923/1957	38768417	1,13005	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768417G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2767C>T	3.37:g.38768417G>A	ENSP00000390600:p.Arg923Cys						p.R923C	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2767	-			923					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.2767C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596646	0.46318	2.27E-4	0.0	ENSG00000185313	ENST00000449082	D	0.83914	-1.78	5.45	2.57	0.30868	Sodium ion transport-associated (1);	0.577428	0.17848	U	0.159945	T	0.71169	0.3308	N	0.04508	-0.205	0.09310	N	1	D	0.67145	0.996	P	0.52909	0.713	T	0.63184	-0.6694	10	0.87932	D	0	.	6.5205	0.22272	0.1841:0.4065:0.4093:0.0	.	923	Q9Y5Y9	SCNAA_HUMAN	C	923	ENSP00000390600:R923C	ENSP00000390600:R923C	R	-	1	0	SCN10A	38743421	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.262000	0.18460	0.642000	0.30620	0.561000	0.74099	CGT		PASS	0.587	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		40	33	40	33	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38921496	38921496	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38921496C>T	ENST00000302328.3	-	19	3536	c.3338G>A	c.(3337-3339)gGa>gAa	p.G1113E	SCN11A_ENST00000444237.2_Missense_Mutation_p.G1113E|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1113E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G1075E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1113					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1113E(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTTCCAAATCCGAAGGCTAC	0.398																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(3337-3339)GGA>GAA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						75.0	72.0	73.0					3																	38921496		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38921496C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3338G>A	3.37:g.38921496C>T	ENSP00000307599:p.Gly1113Glu					SCN11A_uc010hhn.1_Missense_Mutation_p.G191E	p.G1113E	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	19	3537	-			1113			Helical; Name=S2 of repeat III; (By similarity).|III.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3338G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475180	0.84640	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55	5.53	5.53	0.82687	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98350	1.0543	10	0.87932	D	0	.	19.0656	0.93108	0.0:1.0:0.0:0.0	.	1113	Q9UI33	SCNBA_HUMAN	E	1113;1113;1075;1113	ENSP00000307599:G1113E;ENSP00000400945:G1113E;ENSP00000416757:G1075E;ENSP00000408028:G1113E	ENSP00000307599:G1113E	G	-	2	0	SCN11A	38896500	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.776000	0.85560	2.598000	0.87819	0.585000	0.79938	GGA		PASS	0.398	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		8	18	8	18	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38991823	38991823	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:38991823G>A	ENST00000302328.3	-	1	229	c.31C>T	c.(31-33)Cca>Tca	p.P11S	SCN11A_ENST00000444237.2_Missense_Mutation_p.P11S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P11S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P11S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	11					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P11S(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCTCATCTGGAAAGATTACT	0.498																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(31-33)CCA>TCA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						84.0	76.0	79.0					3																	38991823		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991823G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.31C>T	3.37:g.38991823G>A	ENSP00000307599:p.Pro11Ser						p.P11S	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	230	-			11					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.31C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217067	0.79352	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97941	-4.62;-4.62;-4.53;-4.46	5.08	5.08	0.68730	.	0.249334	0.41605	D	0.000843	D	0.98482	0.9494	M	0.80616	2.505	0.38129	D	0.938099	D	0.69078	0.997	P	0.61874	0.895	D	0.99949	1.1506	10	0.72032	D	0.01	.	17.2832	0.87134	0.0:0.0:1.0:0.0	.	11	Q9UI33	SCNBA_HUMAN	S	11	ENSP00000307599:P11S;ENSP00000400945:P11S;ENSP00000416757:P11S;ENSP00000408028:P11S	ENSP00000307599:P11S	P	-	1	0	SCN11A	38966827	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	3.253000	0.51469	2.362000	0.80069	0.655000	0.94253	CCA		PASS	0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		50	24	50	24	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228798	39228798	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:39228798G>T	ENST00000340369.3	-	2	2367	c.2139C>A	c.(2137-2139)ccC>ccA	p.P713P	XIRP1_ENST00000396251.1_Silent_p.P713P|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	713					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.P713P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGATTACCCGGGGCTCCTGTT	0.572																																						uc003cjk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2137-2139)CCC>CCA		xin actin-binding repeat containing 1							51.0	54.0	53.0					3																	39228798		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228798G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2139C>A	3.37:g.39228798G>T						XIRP1_uc003cji.2_Silent_p.P713P|XIRP1_uc003cjj.2_Intron	p.P713P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2360	-			713					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2139C>A	CCDS2683.1																																																																																				PASS	0.572	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		4	22	4	22	---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40433626	40433627	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:40433626_40433627CC>TT	ENST00000301825.3	+	3	271_272	c.153_154CC>TT	c.(151-156)ctCCct>ctTTct	p.P52S	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.P52S|ENTPD3_ENST00000445129.1_Missense_Mutation_p.P52S|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	52					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.P52S(2)|p.L51L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AAGAGGTCCTCCCTCCAGGACT	0.45																																						uc003ckd.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(151-153)CTC>CTT|c.(154-156)CCT>TCT		ectonucleoside triphosphate diphosphohydrolase																																				SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40433626C>T|g.chr3:40433627C>T	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	Exception_encountered	3.37:g.40433626_40433627delinsTT	ENSP00000301825:p.Pro52Ser					ENTPD3_uc010hhy.2_Silent_p.L51L|uc003cke.3_RNA|ENTPD3_uc010hhy.2_Missense_Mutation_p.P52S|uc003cke.3_RNA	p.L51L|p.P52S	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	3	245|246	+			51|52			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Silent|Missense_Mutation	SNP	ENST00000301825.3	37	c.153C>T|c.154C>T	CCDS2691.1																																																																																				PASS	0.450	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		26|25	31|29	25	29	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41275037	41275038	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:41275037_41275038CC>TT	ENST00000349496.5	+	9	1483_1484	c.1203_1204CC>TT	c.(1201-1206)ctCCtt>ctTTtt	p.L402F	CTNNB1_ENST00000453024.1_Missense_Mutation_p.L395F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.L402F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.L402F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L402F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	402					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L402F(2)|p.L401L(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGAAGGTCTCCTTGGGACTCT	0.406		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(1201-1203)CTC>CTT|c.(1204-1206)CTT>TTT		beta-catenin	Lithium(DB01356)																																			SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275037C>T|g.chr3:41275038C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	Exception_encountered	3.37:g.41275037_41275038delinsTT	ENSP00000344456:p.Leu402Phe					CTNNB1_uc003ckp.2_Silent_p.L401L|CTNNB1_uc003ckq.2_Silent_p.L401L|CTNNB1_uc003ckr.2_Silent_p.L401L|CTNNB1_uc011azf.1_Silent_p.L394L|CTNNB1_uc011azg.1_Silent_p.L329L|CTNNB1_uc003cks.2_Silent_p.L4L|CTNNB1_uc003ckt.1_5'Flank|CTNNB1_uc003ckp.2_Missense_Mutation_p.L402F|CTNNB1_uc003ckq.2_Missense_Mutation_p.L402F|CTNNB1_uc003ckr.2_Missense_Mutation_p.L402F|CTNNB1_uc011azf.1_Missense_Mutation_p.L395F|CTNNB1_uc011azg.1_Missense_Mutation_p.L330F|CTNNB1_uc003cks.2_Missense_Mutation_p.L5F|CTNNB1_uc003ckt.1_5'Flank	p.L401L|p.L402F	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	10	1359|1360	+			401|402			ARM 7.		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent|Missense_Mutation	SNP	ENST00000349496.5	37	c.1203C>T|c.1204C>T	CCDS2694.1																																																																																				PASS	0.406	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		31|32	29|28	31	28	---	---	---	---
HHATL	57467	broad.mit.edu	37	3	42738546	42738546	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:42738546C>T	ENST00000441594.1	-	8	1218	c.957G>A	c.(955-957)ctG>ctA	p.L319L	HHATL_ENST00000310417.5_Silent_p.L319L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	319					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.L319L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGGGTGGGTCCAGGTGGTCGA	0.622																																						uc003clw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(955-957)CTG>CTA		hedgehog acyltransferase-like							91.0	72.0	79.0					3																	42738546		2203	4300	6503	SO:0001819	synonymous_variant	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42738546C>T	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.957G>A	3.37:g.42738546C>T						HHATL_uc003clx.2_Silent_p.L319L	p.L319L	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	9	1104	-			319					Q8TBG3|Q9ULP7	Silent	SNP	ENST00000441594.1	37	c.957G>A	CCDS2704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.421|9.421	1.083009|1.083009	0.20309|0.20309	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000426666|ENST00000341477	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|.	.|.	.|.	.|.	T|.	0.58878|.	0.2153|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53556|.	-0.8422|.	4|.	.|0.22706	.|T	.|0.39	-9.9079|-9.9079	13.453|13.453	0.61182|0.61182	0.0:0.8428:0.1572:0.0|0.0:0.8428:0.1572:0.0	.|.	.|.	.|.	.|.	R|X	16|226	.|.	.|ENSP00000341177:W226X	G|W	-|-	1|2	0|0	HHATL|HHATL	42713550|42713550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	1.867000|1.867000	0.39499|0.39499	2.242000|2.242000	0.73789|0.73789	0.645000|0.645000	0.84053|0.84053	GGA|TGG		PASS	0.622	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		12	8	12	8	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44670823	44670823	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:44670823C>T	ENST00000396058.1	+	1	344	c.177C>T	c.(175-177)gcC>gcT	p.A59A	ZNF197_ENST00000383744.4_Silent_p.A59A|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Silent_p.A59A|ZNF197_ENST00000344387.4_Silent_p.A59A			O14709	ZN197_HUMAN	zinc finger protein 197	59	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.A59A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCCAGGAAGCCCTGAGCCGGC	0.572																																						uc003cnm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(175-177)GCC>GCT		zinc finger protein 197 isoform 1							67.0	76.0	73.0					3																	44670823		2203	4300	6503	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44670823C>T	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.177C>T	3.37:g.44670823C>T						ZNF197_uc003cnn.2_Silent_p.A59A|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Silent_p.A59A	p.A59A	NM_006991	NP_008922	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	2	383	+			59			SCAN box.		B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.177C>T	CCDS2717.1																																																																																				PASS	0.572	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		36	23	36	23	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46568959	46568960	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:46568959_46568960CC>GT	ENST00000395905.3	-	7	1277_1278	c.885_886GG>AC	c.(883-888)ttGGtg>ttACtg	p.V296L	LRRC2_ENST00000296144.3_Missense_Mutation_p.V296L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	296								p.V296L(2)|p.L295L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GGGAGCTCCACCAAATGGTCCC	0.475																																						uc010hji.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(886-888)GTG>CTG|c.(883-885)TTG>TTA		leucine rich repeat containing 2																																				SO:0001583	missense	79442							g.chr3:46568959C>G|g.chr3:46568960C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.885_886delinsGT	3.37:g.46568959_46568960delinsGT	ENSP00000379241:p.Val296Leu					LRRC2_uc003cpu.3_Missense_Mutation_p.V296L|LRRC2_uc003cpu.3_Silent_p.L295L	p.V296L|p.L295L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	7	1250|1249	-		Ovarian(412;0.0563)	296|295			LRR 8.		B2RDQ7|Q96LT5	Missense_Mutation|Silent	SNP	ENST00000395905.3	37	c.886G>C|c.885G>A	CCDS2741.1																																																																																				PASS	0.475	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			18|19	16	18	16	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47044477	47044477	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:47044477C>A	ENST00000450053.3	+	34	5669	c.5490C>A	c.(5488-5490)tcC>tcA	p.S1830S	NBEAL2_ENST00000292309.5_Silent_p.S1646S|NBEAL2_ENST00000383740.2_Silent_p.S109S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1830					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S1207S(1)|p.S1830S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGAAACTGTCCAGCGCCGAGA	0.612																																						uc003cqp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(5488-5490)TCC>TCA		neurobeachin-like 2							56.0	62.0	60.0					3																	47044477		2048	4179	6227	SO:0001819	synonymous_variant	23218						binding	g.chr3:47044477C>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5490C>A	3.37:g.47044477C>A						NBEAL2_uc010hjm.1_Silent_p.S1207S|NBEAL2_uc010hjn.1_Silent_p.S226S|NBEAL2_uc010hjo.1_5'Flank	p.S1830S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	34	5669	+		Acute lymphoblastic leukemia(5;0.0534)	1830					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.5490C>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.706|9.706	1.155759|1.155759	0.21454|0.21454	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	5.01|5.01	4.13|4.13	0.48395|0.48395	.|.	.|.	.|.	.|.	.|.	T|T	0.48132|0.48132	0.1483|0.1483	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44406|0.44406	-0.9330|-0.9330	4|4	.|.	.|.	.|.	.|.	4.0453|4.0453	0.09770|0.09770	0.188:0.6195:0.0:0.1924|0.188:0.6195:0.0:0.1924	.|.	.|.	.|.	.|.	Q|K	1118|199	.|.	.|.	P|Q	+|+	2|1	0|0	NBEAL2|NBEAL2	47019481|47019481	0.855000|0.855000	0.29742|0.29742	0.995000|0.995000	0.50966|0.50966	0.905000|0.905000	0.53344|0.53344	0.060000|0.060000	0.14342|0.14342	1.318000|1.318000	0.45170|0.45170	0.655000|0.655000	0.94253|0.94253	CCA|CAG		PASS	0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	5	7	5	---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47465450	47465450	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:47465450G>A	ENST00000265565.5	-	9	1535	c.1123C>T	c.(1123-1125)Ctg>Ttg	p.L375L	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Silent_p.L120L|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	375	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.L375L(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TTCACCTCCAGGTCTACCGGG	0.567																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1123-1125)CTG>TTG		SREBF chaperone protein							98.0	79.0	86.0					3																	47465450		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47465450G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1123C>T	3.37:g.47465450G>A						SCAP_uc011baz.1_Silent_p.L120L|SCAP_uc003crg.2_5'UTR	p.L375L	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	9	1378	-			375			SSD.|Cytoplasmic (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.1123C>T	CCDS2755.2																																																																																				PASS	0.567	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		20	13	20	13	---	---	---	---
SLC26A6	65010	broad.mit.edu	37	3	48666117	48666117	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:48666117G>A	ENST00000395550.2	-	15	1677	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	SLC26A6_ENST00000420764.2_Missense_Mutation_p.R544C|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R544C|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R437C|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000358747.6_Missense_Mutation_p.R523C|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R508C			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	544	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.R544C(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCGAGGAGCGGAAGACCTTC	0.602																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(11845-11847)CGC>TGC		cadherin EGF LAG seven-pass G-type receptor 3							92.0	104.0	100.0					3																	48666117		2127	4234	6361	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48666117G>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1630C>T	3.37:g.48666117G>A	ENSP00000378920:p.Arg544Cys					SLC26A6_uc003cug.2_Missense_Mutation_p.R523C|SLC26A6_uc003cuh.2_Missense_Mutation_p.R544C|SLC26A6_uc010hke.2_Missense_Mutation_p.R395C|SLC26A6_uc003cuk.2_Missense_Mutation_p.R437C|SLC26A6_uc003cui.2_Missense_Mutation_p.R544C|SLC26A6_uc003cuj.2_Missense_Mutation_p.R544C|SLC26A6_uc011bbp.1_Missense_Mutation_p.R508C	p.R3949C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	51	11845	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.11845C>T	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884604	0.72410	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84;-2.84;-2.84	5.02	4.05	0.47172	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	D	0.95274	0.8467	M	0.83223	2.63	0.45366	D	0.998355	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.78314	0.99;0.991;0.983;0.954;0.987;0.982;0.916	D	0.95983	0.8979	9	0.87932	D	0	.	16.0609	0.80838	0.0:0.0:0.8566:0.1434	.	508;557;437;544;544;544;3949	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	C	544;544;544;437;557;523;508	ENSP00000404684:R544C;ENSP00000378920:R544C;ENSP00000373239:R544C;ENSP00000337648:R437C;ENSP00000351597:R523C;ENSP00000401066:R508C	ENSP00000337648:R437C	R	-	1	0	SLC26A6	48641121	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.201000	0.65163	2.336000	0.79503	0.561000	0.74099	CGC		PASS	0.602	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		18	14	18	14	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48692593	48692593	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:48692593C>T	ENST00000164024.4	-	6	5152	c.4872G>A	c.(4870-4872)aaG>aaA	p.K1624K	CELSR3_ENST00000544264.1_Silent_p.K1624K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1624	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K1624K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACCTTGTCCTTGGAGGGGC	0.607																																						uc003cul.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(4870-4872)AAG>AAA		cadherin EGF LAG seven-pass G-type receptor 3							91.0	79.0	83.0					3																	48692593		2203	4300	6503	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48692593C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4872G>A	3.37:g.48692593C>T						CELSR3_uc003cuf.1_Silent_p.K1694K	p.K1624K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	6	5153	-			1624			Extracellular (Potential).|Laminin G-like 1.		O75092	Silent	SNP	ENST00000164024.4	37	c.4872G>A	CCDS2775.1																																																																																				PASS	0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		9	9	9	9	---	---	---	---
QRICH1	54870	broad.mit.edu	37	3	49095152	49095152	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49095152G>A	ENST00000395443.2	-	3	953	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	QRICH1_ENST00000424300.1_Missense_Mutation_p.P161S|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P161S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	161	Gln-rich.					nucleus (GO:0005634)		p.P161S(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCTGCGAGGGACTGGGACTC	0.617																																						uc010hkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)CCC>TCC		glutamine-rich 1							128.0	120.0	123.0					3																	49095152		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49095152G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.481C>T	3.37:g.49095152G>A	ENSP00000378830:p.Pro161Ser					QRICH1_uc003cvu.2_Missense_Mutation_p.P161S|QRICH1_uc003cvv.2_Missense_Mutation_p.P161S	p.P161S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	777	-			161			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.481C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620593	0.66787	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	N	0.14661	0.345	0.46798	D	0.9992	B	0.22800	0.075	B	0.14023	0.01	T	0.34354	-0.9832	9	0.31617	T	0.26	-3.637	20.5177	0.99214	0.0:0.0:1.0:0.0	.	161	Q2TAL8	QRIC1_HUMAN	S	161	.	ENSP00000350094:P161S	P	-	1	0	QRICH1	49070156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.211000	0.58507	2.853000	0.98044	0.644000	0.83932	CCC		PASS	0.617	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		40	21	40	21	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49570418	49570418	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49570418C>T	ENST00000539901.1	+	3	3032	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	DAG1_ENST00000538711.1_Missense_Mutation_p.P825L|DAG1_ENST00000308775.2_Missense_Mutation_p.P825L|DAG1_ENST00000515359.2_Missense_Mutation_p.P825L|DAG1_ENST00000541308.1_Missense_Mutation_p.P825L|DAG1_ENST00000545947.1_Missense_Mutation_p.P825L	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	825	Pro-rich.|Required for interaction with CAV3.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.P825L(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGAAGGCTCCCCTACCCCCT	0.602																																						uc003cxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2473-2475)CCC>CTC		dystroglycan 1 preproprotein							75.0	72.0	73.0					3																	49570418		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570418C>T	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2474C>T	3.37:g.49570418C>T	ENSP00000439334:p.Pro825Leu						p.P825L	NM_004393	NP_004384	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	2892	+			825			Pro-rich.|Required for interaction with CAV3.|Cytoplasmic (Potential).		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2474C>T	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913788	0.72983	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.71	5.71	0.89125	.	0.049260	0.85682	D	0.000000	D	0.83686	0.5308	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84217	0.0459	9	.	.	.	-19.1407	18.6326	0.91366	0.0:1.0:0.0:0.0	.	825	Q14118	DAG1_HUMAN	L	825	ENSP00000440705:P825L;ENSP00000312435:P825L;ENSP00000442600:P825L;ENSP00000440590:P825L;ENSP00000439334:P825L;ENSP00000438421:P825L	.	P	+	2	0	DAG1	49545422	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.818000	0.86416	2.694000	0.91930	0.650000	0.86243	CCC		PASS	0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			20	12	20	12	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49690811	49690811	+	Silent	SNP	C	C	T	rs367588335		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49690811C>T	ENST00000296452.4	+	5	3936	c.3822C>T	c.(3820-3822)tcC>tcT	p.S1274S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1274					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.S1274S(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)		GGCAGGCCTCCTCACGAGACC	0.557																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3820-3822)TCC>TCT		bassoon protein							41.0	40.0	40.0					3																	49690811		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690811C>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.3822C>T	3.37:g.49690811C>T							p.S1274S	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	3936	+			1274					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3822C>T	CCDS2800.1																																																																																				PASS	0.557	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		12	13	12	13	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49698116	49698116	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49698116G>A	ENST00000296452.4	+	6	8952	c.8838G>A	c.(8836-8838)cgG>cgA	p.R2946R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2946					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.R2946R(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)		AGCTGGACCGGGACCTGCGGC	0.642																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(8836-8838)CGG>CGA		bassoon protein							23.0	24.0	24.0					3																	49698116		2196	4295	6491	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698116G>A	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.8838G>A	3.37:g.49698116G>A							p.R2946R	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)	6	8952	+			2946			Potential.		O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.8838G>A	CCDS2800.1																																																																																				PASS	0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	6	6	6	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49753120	49753120	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49753120C>T	ENST00000327697.6	+	32	3267	c.3123C>T	c.(3121-3123)ttC>ttT	p.F1041F	RNF123_ENST00000433785.1_Silent_p.F153F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1041					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F1041F(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACTGGGCCTTCTCTGAATTCA	0.607																																						uc003cxh.2																			1	Substitution - coding silent(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7						c.(3121-3123)TTC>TTT		ring finger protein 123							104.0	93.0	97.0					3																	49753120		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753120C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3123C>T	3.37:g.49753120C>T						RNF123_uc003cxi.2_RNA	p.F1041F	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	32	3209	+			1041					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.3123C>T	CCDS33758.1																																																																																				PASS	0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		19	14	19	14	---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49848862	49848862	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:49848862C>T	ENST00000333486.3	-	9	1124	c.966G>A	c.(964-966)ctG>ctA	p.L322L	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	322	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.L322L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTCCCGGGCCAGGCCCACCA	0.602																																						uc003cxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(964-966)CTG>CTA		ubiquitin-like modifier activating enzyme 7							73.0	57.0	63.0					3																	49848862		2203	4297	6500	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49848862C>T	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.966G>A	3.37:g.49848862C>T							p.L322L	NM_003335	NP_003326	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	9	1137	-			322			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.966G>A	CCDS2805.1																																																																																				PASS	0.602	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		5	1	5	1	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50153357	50153357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:50153357C>T	ENST00000347869.3	+	22	2213	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	680	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R680*(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACATCTATCGACGATCCAG	0.433																																						uc003cyg.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(2038-2040)CGA>TGA		RNA binding motif protein 5							107.0	108.0	108.0					3																	50153357		2203	4300	6503	SO:0001587	stop_gained	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50153357C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2038C>T	3.37:g.50153357C>T	ENSP00000343054:p.Arg680*					RBM5_uc011bdj.1_Nonsense_Mutation_p.R624*|RBM5_uc011bdk.1_Nonsense_Mutation_p.R508*|RBM5_uc003cyh.2_Nonsense_Mutation_p.R137*	p.R680*	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	22	2186	+			680			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	37	c.2038C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	37	6.544973	0.97650	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.19	3.14	0.36123	.	0.153270	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6879	14.2291	0.65879	0.34:0.66:0.0:0.0	.	.	.	.	X	680;679;370	.	ENSP00000343054:R680X	R	+	1	2	RBM5	50128361	0.997000	0.39634	1.000000	0.80357	0.926000	0.56050	1.030000	0.30153	1.130000	0.42092	0.462000	0.41574	CGA		PASS	0.433	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		24	6	24	6	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51196713	51196713	+	Silent	SNP	C	C	T	rs200460488		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:51196713C>T	ENST00000266037.9	+	11	890	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	289					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I289I(2)|p.I278I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATTTGTATATCGTTGCCCATG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.001		0.0	False		,,,				2504	0.0					uc011bds.1																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)		0						c.(865-867)ATC>ATT		dedicator of cytokinesis 3							132.0	124.0	126.0					3																	51196713		1865	4113	5978	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51196713C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.867C>T	3.37:g.51196713C>T							p.I289I	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	11	890	+			289					O15017	Silent	SNP	ENST00000266037.9	37	c.867C>T	CCDS46835.1																																																																																				PASS	0.358	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		30	33	30	33	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51467502	51467502	+	Intron	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:51467502G>A	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.R488C(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACCAGACGACGAAGACCATCA	0.488																																						uc003dbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1450-1452)CGT>TGT		HIV-1 Vpr binding protein							91.0	88.0	89.0					3																	51467502		1958	4154	6112	SO:0001627	intron_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51467502G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+8252C>T	3.37:g.51467502G>A							p.R484C	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	10	1618	-			484					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.1450C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.154799	0.94686	.	.	ENSG00000145041	ENST00000423656	T	0.18960	2.18	6.05	6.05	0.98169	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.50110	-0.8866	10	0.87932	D	0	-13.9132	20.6013	0.99457	0.0:0.0:1.0:0.0	.	484	Q9Y4B6	VPRBP_HUMAN	C	55	ENSP00000393183:R55C	ENSP00000393183:R55C	R	-	1	0	VPRBP	51442542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.012000	0.64017	2.878000	0.98634	0.650000	0.86243	CGT		PASS	0.488	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		6	91	6	91	---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51673510	51673510	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:51673510G>A	ENST00000409535.2	+	12	2061	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	RAD54L2_ENST00000296477.3_Missense_Mutation_p.E340K	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	646						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)	p.E646K(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCTAGACGTGGAAGAACTTGG	0.552																																						uc011bdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1936-1938)GAA>AAA		RAD54-like 2							99.0	84.0	89.0					3																	51673510		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51673510G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1936G>A	3.37:g.51673510G>A	ENSP00000386520:p.Glu646Lys					RAD54L2_uc003dbh.2_Missense_Mutation_p.E237K|RAD54L2_uc011bdu.1_Missense_Mutation_p.E340K|RAD54L2_uc003dbj.2_5'UTR	p.E646K	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	12	2061	+			646					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.1936G>A	CCDS33765.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.189607|4.189607	0.78789|0.78789	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93859|.	-3.21;-3.3|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.097632|.	0.64402|.	D|.	0.000001|.	T|T	0.61311|0.61311	0.2337|0.2337	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;B|.	0.24675|.	0.109;0.052|.	B;B|.	0.23716|.	0.048;0.029|.	T|T	0.54840|0.54840	-0.8233|-0.8233	10|5	0.28530|.	T|.	0.3|.	-13.2186|-13.2186	18.6879|18.6879	0.91571|0.91571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	646;237|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	K|E	646;340|474	ENSP00000386520:E646K;ENSP00000296477:E340K|.	ENSP00000296477:E340K|.	E|G	+|+	1|2	0|0	RAD54L2|RAD54L2	51648550|51648550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	9.809000|9.809000	0.99208|0.99208	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.552	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		23	18	23	18	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52402765	52402765	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52402765G>A	ENST00000420323.2	+	37	6035	c.5774G>A	c.(5773-5775)gGg>gAg	p.G1925E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1925	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1925E(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGACAGACGGGATATTCTCC	0.632																																						uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(5773-5775)GGG>GAG		dynein, axonemal, heavy chain 1							107.0	110.0	109.0					3																	52402765		2013	4165	6178	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52402765G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5774G>A	3.37:g.52402765G>A	ENSP00000401514:p.Gly1925Glu						p.G1925E	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	37	6035	+			1925			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5774G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945369	0.73672	.	.	ENSG00000114841	ENST00000420323	D	0.95980	-3.87	4.93	4.93	0.64822	.	0.146689	0.31221	N	0.008037	D	0.98972	0.9650	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99013	1.0815	10	0.87932	D	0	.	18.3341	0.90282	0.0:0.0:1.0:0.0	.	1925	C9JXH6	.	E	1925	ENSP00000401514:G1925E	ENSP00000401514:G1925E	G	+	2	0	DNAH1	52377805	1.000000	0.71417	0.999000	0.59377	0.273000	0.26683	9.103000	0.94232	2.567000	0.86603	0.563000	0.77884	GGG		PASS	0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		40	39	40	39	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52548474	52548474	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52548474C>T	ENST00000321725.6	+	34	3716	c.3640C>T	c.(3640-3642)Cct>Tct	p.P1214S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1214	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.P1214S(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTCCTGGGCCCTGCCCACTG	0.647																																						uc003dej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(3640-3642)CCT>TCT		stabilin 1 precursor							58.0	60.0	60.0					3																	52548474		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52548474C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3640C>T	3.37:g.52548474C>T	ENSP00000312946:p.Pro1214Ser						p.P1214S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	34	3714	+			1214			FAS1 4.|Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3640C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	9.998	1.232744	0.22626	.	.	ENSG00000010327	ENST00000321725	D	0.89343	-2.5	5.55	1.47	0.22746	FAS1 domain (4);	0.283873	0.34828	N	0.003656	T	0.81597	0.4856	L	0.54323	1.7	0.09310	N	1	B	0.19445	0.036	B	0.19391	0.025	T	0.62656	-0.6808	10	0.16896	T	0.51	.	5.0308	0.14409	0.2534:0.5462:0.1238:0.0766	.	1214	Q9NY15	STAB1_HUMAN	S	1214	ENSP00000312946:P1214S	ENSP00000312946:P1214S	P	+	1	0	STAB1	52523514	0.000000	0.05858	0.716000	0.30569	0.949000	0.60115	-0.023000	0.12456	0.692000	0.31613	0.561000	0.74099	CCT		PASS	0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		20	13	20	13	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52551008	52551008	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52551008C>T	ENST00000321725.6	+	42	4448	c.4372C>T	c.(4372-4374)Ccc>Tcc	p.P1458S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1458	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.P1458S(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGAGGTGGACCCCTGCGCCCA	0.647																																						uc003dej.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(4372-4374)CCC>TCC		stabilin 1 precursor							44.0	48.0	47.0					3																	52551008		2203	4298	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52551008C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4372C>T	3.37:g.52551008C>T	ENSP00000312946:p.Pro1458Ser					STAB1_uc003dek.1_5'Flank	p.P1458S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	42	4446	+			1458			Extracellular (Potential).|EGF-like 11.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4372C>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055164	0.75960	.	.	ENSG00000010327	ENST00000321725	T	0.03212	4.01	3.96	3.96	0.45880	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.144353	0.46758	D	0.000274	T	0.11965	0.0291	L	0.51422	1.61	0.44162	D	0.996965	D	0.89917	1.0	D	0.67548	0.952	T	0.02991	-1.1085	10	0.44086	T	0.13	.	14.3538	0.66722	0.0:1.0:0.0:0.0	.	1458	Q9NY15	STAB1_HUMAN	S	1458	ENSP00000312946:P1458S	ENSP00000312946:P1458S	P	+	1	0	STAB1	52526048	0.999000	0.42202	1.000000	0.80357	0.852000	0.48524	3.696000	0.54757	2.214000	0.71695	0.561000	0.74099	CCC		PASS	0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		23	11	23	11	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52556435	52556435	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52556435G>A	ENST00000321725.6	+	60	6631	c.6555G>A	c.(6553-6555)ttG>ttA	p.L2185L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2185					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.L2185L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCGCTGCTTGGGCCAGCCAC	0.622																																						uc003dej.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(6553-6555)TTG>TTA		stabilin 1 precursor							76.0	80.0	79.0					3																	52556435		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52556435G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6555G>A	3.37:g.52556435G>A						STAB1_uc003dek.1_Silent_p.L200L|STAB1_uc003del.2_Silent_p.L72L	p.L2185L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	60	6629	+			2185			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.6555G>A	CCDS33768.1																																																																																				PASS	0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		21	13	21	13	---	---	---	---
NT5DC2	64943	broad.mit.edu	37	3	52563208	52563208	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52563208C>T	ENST00000307076.4	-	2	664	c.264G>A	c.(262-264)gaG>gaA	p.E88E	NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000422318.2_Silent_p.E125E|NT5DC2_ENST00000307092.4_Silent_p.E54E|NT5DC2_ENST00000459839.1_Silent_p.E125E	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	88							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E88E(1)		endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TACTGAAGATCTCGGGGTGCA	0.592																																						uc003deo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)GAG>GAA		5'-nucleotidase domain containing 2 isoform 2							238.0	188.0	205.0					3																	52563208		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52563208C>T	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.264G>A	3.37:g.52563208C>T						NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.E125E|NT5DC2_uc010hmi.2_Silent_p.E125E|NT5DC2_uc010hmj.2_5'UTR	p.E88E	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	2	688	-			88					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.264G>A	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	4.013	-0.000185	0.07819	.	.	ENSG00000168268	ENST00000489316	.	.	.	5.41	4.52	0.55395	.	.	.	.	.	T	0.70771	0.3262	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70197	-0.4938	4	.	.	.	-24.665	15.367	0.74531	0.1407:0.8592:0.0:0.0	.	.	.	.	N	57	.	.	D	-	1	0	NT5DC2	52538248	1.000000	0.71417	0.944000	0.38274	0.445000	0.32107	3.083000	0.50136	1.244000	0.43870	0.555000	0.69702	GAT		PASS	0.592	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		21	21	21	21	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52820977	52820977	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52820977G>A	ENST00000273283.2	+	14	1774	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	ITIH1_ENST00000537050.1_Missense_Mutation_p.E296K|ITIH1_ENST00000542827.1_Missense_Mutation_p.E584K|ITIH1_ENST00000540715.1_Missense_Mutation_p.E442K|ITIH1_ENST00000405128.3_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	584	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E584K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGTGGACAGGGAGGAGAGGGC	0.562																																						uc003dfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1750-1752)GAG>AAG		inter-alpha (globulin) inhibitor H1							85.0	77.0	80.0					3																	52820977		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820977G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1750G>A	3.37:g.52820977G>A	ENSP00000273283:p.Glu584Lys					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.E185K|ITIH1_uc010hmo.1_Missense_Mutation_p.E138K|ITIH1_uc003dfu.2_5'Flank	p.E584K	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	14	1774	+			584			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1750G>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	G	6.255	0.415232	0.11870	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.31	1.41	0.22369	.	0.556047	0.21557	N	0.072631	T	0.26231	0.0640	L	0.52905	1.665	0.22989	N	0.998468	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.17979	0.02;0.002;0.013	T	0.20207	-1.0282	10	0.32370	T	0.25	-12.4085	1.812	0.03092	0.2434:0.1366:0.4794:0.1406	.	442;185;584	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	K	584;584;442;296;137	ENSP00000442584:E584K;ENSP00000273283:E584K;ENSP00000443973:E442K;ENSP00000443847:E296K;ENSP00000395836:E137K	ENSP00000273283:E584K	E	+	1	0	ITIH1	52796017	0.667000	0.27484	0.267000	0.24556	0.041000	0.13682	0.396000	0.20867	0.074000	0.16767	0.561000	0.74099	GAG		PASS	0.562	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		17	15	17	15	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52852089	52852089	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:52852089G>A	ENST00000266041.4	-	20	2371	c.2275C>T	c.(2275-2277)Ctg>Ttg	p.L759L	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.L729L|ITIH4_ENST00000346281.5_Silent_p.L743L|ITIH4_ENST00000485816.1_Silent_p.L764L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	759					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L759L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTGAGAGCAGGTTCACTGGC	0.647																																						uc003dfz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2275-2277)CTG>TTG		inter-alpha (globulin) inhibitor H4							67.0	78.0	74.0					3																	52852089		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52852089G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2275C>T	3.37:g.52852089G>A						ITIH4_uc011bel.1_Silent_p.L473L|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Silent_p.L764L|ITIH4_uc011ben.1_Silent_p.L729L	p.L759L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	20	2311	-			759					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.2275C>T	CCDS2865.1																																																																																				PASS	0.647	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		14	12	14	12	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53531355	53531355	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:53531355C>A	ENST00000350061.5	+	2	755	c.244C>A	c.(244-246)Caa>Aaa	p.Q82K	CACNA1D_ENST00000422281.2_Missense_Mutation_p.Q82K|CACNA1D_ENST00000288139.4_Missense_Mutation_p.Q82K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	82					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Q82K(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCTCTCTCCCAAAGAAAACG	0.522																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(244-246)CAA>AAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						123.0	142.0	136.0					3																	53531355		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53531355C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.244C>A	3.37:g.53531355C>A	ENSP00000288133:p.Gln82Lys					CACNA1D_uc003dgu.3_Missense_Mutation_p.Q82K|CACNA1D_uc003dgy.3_Missense_Mutation_p.Q82K	p.Q82K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	2	407	+			82			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.244C>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627682	0.87560	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.96334	-3.95;-3.98;-3.96	5.61	5.61	0.85477	.	0.244954	0.30093	N	0.010440	D	0.96962	0.9008	L	0.59436	1.845	0.80722	D	1	P;B;D	0.55172	0.949;0.273;0.97	P;B;P	0.55345	0.599;0.165;0.774	D	0.96630	0.9466	10	0.48119	T	0.1	.	19.6372	0.95737	0.0:1.0:0.0:0.0	.	82;82;82	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	K	82	ENSP00000288133:Q82K;ENSP00000288139:Q82K;ENSP00000409174:Q82K	ENSP00000288139:Q82K	Q	+	1	0	CACNA1D	53506395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.642000	0.89623	0.561000	0.74099	CAA		PASS	0.522	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	72	5	72	---	---	---	---
CHDH	55349	broad.mit.edu	37	3	53852089	53852089	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:53852089G>A	ENST00000315251.6	-	9	1937	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	500					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.A500A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCCGCACAAAGGCATCTATCT	0.577																																						uc003dgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1498-1500)GCC>GCT		choline dehydrogenase precursor	Choline(DB00122)						105.0	99.0	101.0					3																	53852089		2203	4300	6503	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852089G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1500C>T	3.37:g.53852089G>A							p.A500A	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	1940	-		Hepatocellular(537;0.152)	500					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.1500C>T	CCDS2873.1																																																																																				PASS	0.577	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		20	20	20	20	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62518605	62518605	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:62518605G>A	ENST00000383710.4	-	13	2581	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	CADPS_ENST00000283269.9_Silent_p.I744I|CADPS_ENST00000357948.3_Silent_p.I727I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	744					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I744I(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGTGGGGTCGATCATGGCGC	0.517																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(2230-2232)ATC>ATT		Ca2+-dependent secretion activator isoform 1							147.0	125.0	133.0					3																	62518605		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62518605G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2232C>T	3.37:g.62518605G>A						CADPS_uc003dlk.1_Silent_p.I248I|CADPS_uc003dlm.2_Silent_p.I744I|CADPS_uc003dln.2_Silent_p.I727I	p.I744I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	13	2592	-		Lung SC(41;0.0452)	744					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.2232C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.024|9.024	0.985712|0.985712	0.18889|0.18889	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000491424|ENST00000468271;ENST00000478434	.|.	.|.	.|.	5.77|5.77	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63165	.|0.2488	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75016	.|-0.3466	.|4	.|.	.|.	.|.	.|.	18.6995|18.6995	0.91615|0.91615	0.6216:0.0:0.3784:0.0|0.6216:0.0:0.3784:0.0	.|.	.|.	.|.	.|.	X|L	51|89;175	.|.	.|.	R|S	-|-	1|2	2|0	CADPS|CADPS	62493645|62493645	0.051000|0.051000	0.20477|0.20477	0.509000|0.509000	0.27700|0.27700	0.928000|0.928000	0.56348|0.56348	-0.313000|-0.313000	0.08103|0.08103	-2.130000|-2.130000	0.00816|0.00816	-2.035000|-2.035000	0.00420|0.00420	CGA|TCG		PASS	0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		36	21	36	21	---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63594900	63594900	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:63594900G>A	ENST00000295894.5	+	4	817	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	SYNPR_ENST00000460711.1_Missense_Mutation_p.E161K|SYNPR_ENST00000479198.1_Missense_Mutation_p.E150K|SYNPR_ENST00000478300.1_Missense_Mutation_p.E170K|SYNPR_ENST00000465156.1_Intron|SYNPR_ENST00000478744.1_3'UTR	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	150	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)	p.E170K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GGATCCCAAGGAAGTATTGCT	0.448																																					NSCLC(29;1052 1116 20025 32519)	uc003dlq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GAA>AAA		synaptoporin isoform 2							166.0	164.0	164.0					3																	63594900		1984	4166	6150	SO:0001583	missense	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63594900G>A	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.448G>A	3.37:g.63594900G>A	ENSP00000295894:p.Glu150Lys					SYNPR_uc003dlp.2_Missense_Mutation_p.E170K|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.E159K|SYNPR_uc011bfm.1_RNA	p.E150K	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	4	817	+			150			MARVEL.|Vesicular (Potential).		B2R675|G5E9W4	Missense_Mutation	SNP	ENST00000295894.5	37	c.448G>A	CCDS46860.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918385	0.92249	.	.	ENSG00000163630	ENST00000478300;ENST00000295894;ENST00000479198;ENST00000460711	T;T;T;T	0.30182	1.94;1.94;1.54;1.93	5.86	5.86	0.93980	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	L	0.48877	1.53	0.80722	D	1	D;P;D	0.55605	0.972;0.945;0.965	P;P;P	0.59595	0.86;0.767;0.78	T	0.05616	-1.0874	10	0.06757	T	0.87	-23.676	19.5509	0.95319	0.0:0.0:1.0:0.0	.	161;150;170	B3KVD8;Q8TBG9;G5E9W4	.;SYNPR_HUMAN;.	K	170;150;150;161	ENSP00000418994:E170K;ENSP00000295894:E150K;ENSP00000418929:E150K;ENSP00000418701:E161K	ENSP00000295894:E150K	E	+	1	0	SYNPR	63569940	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.831000	0.86748	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.448	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			16	12	16	12	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64589744	64589744	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:64589744C>T	ENST00000498707.1	-	25	3943	c.3601G>A	c.(3601-3603)Ggt>Agt	p.G1201S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1173S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1201	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1201S(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATCCGGGTACCTTTCCCACAA	0.512																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(3601-3603)GGT>AGT		ADAM metallopeptidase with thrombospondin type 1							109.0	100.0	103.0					3																	64589744		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64589744C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3601G>A	3.37:g.64589744C>T	ENSP00000418735:p.Gly1201Ser					ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1173S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1030S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G112S	p.G1201S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	25	3633	-		Lung NSC(201;0.00682)	1201			TSP type-1 7.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3601G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615661	0.87359	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	D;D	0.83591	-1.74;-1.74	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.997;1.0;0.992	D	0.95708	0.8755	10	0.87932	D	0	.	18.9748	0.92731	0.0:1.0:0.0:0.0	.	1173;1201;1201	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	S	1173;1201	ENSP00000295903:G1173S;ENSP00000418735:G1201S	ENSP00000295903:G1173S	G	-	1	0	ADAMTS9	64564784	1.000000	0.71417	0.998000	0.56505	0.450000	0.32258	7.320000	0.79064	2.721000	0.93114	0.650000	0.86243	GGT		PASS	0.512	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			19	14	19	14	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64599030	64599031	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:64599030_64599031GG>AA	ENST00000498707.1	-	22	3686_3687	c.3344_3345CC>TT	c.(3343-3345)cCC>cTT	p.P1115L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P1087L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1115	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1115L(2)|p.P1115P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCTGTCCCCAGGGACCCGCCTG	0.465																																						uc003dmg.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(3343-3345)CCC>CCT|c.(3343-3345)CCC>CTC		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64599030G>A|g.chr3:64599031G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3344_3345delinsAA	3.37:g.64599030_64599031delinsAA	ENSP00000418735:p.Pro1115Leu					ADAMTS9_uc011bfo.1_Silent_p.P1087P|ADAMTS9_uc003dmh.1_Silent_p.P944P|ADAMTS9_uc011bfp.1_Silent_p.P26P|ADAMTS9_uc011bfo.1_Missense_Mutation_p.P1087L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P944L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P26L	p.P1115P|p.P1115L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	22	3377|3376	-		Lung NSC(201;0.00682)	1115			TSP type-1 6.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent|Missense_Mutation	SNP	ENST00000498707.1	37	c.3345C>T|c.3344C>T	CCDS2903.1																																																																																				PASS	0.465	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			22|23	15	22	15	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64627562	64627562	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:64627562C>T	ENST00000498707.1	-	12	2160	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	ADAMTS9_ENST00000295903.4_Silent_p.G578G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	606	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G606G(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTTGATGCCCCCTCCACATG	0.473																																						uc003dmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(1816-1818)GGG>GGA		ADAM metallopeptidase with thrombospondin type 1							142.0	136.0	138.0					3																	64627562		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64627562C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1818G>A	3.37:g.64627562C>T						ADAMTS9_uc011bfo.1_Silent_p.G578G|ADAMTS9_uc003dmh.1_Silent_p.G435G|ADAMTS9_uc003dmk.1_Silent_p.G606G	p.G606G	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	12	1850	-		Lung NSC(201;0.00682)	606			TSP type-1 1.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.1818G>A	CCDS2903.1																																																																																				PASS	0.473	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			30	17	30	17	---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69112186	69112186	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:69112186G>A	ENST00000361055.4	-	9	694	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	UBA3_ENST00000349511.4_Silent_p.L200L|UBA3_ENST00000540295.1_Silent_p.L37L|UBA3_ENST00000415609.2_Silent_p.L173L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	214	Interaction with UBE2M N-terminus.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.L214L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ATTCCAGGCAGAATCACCCGG	0.423																																						uc003dno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(640-642)CTG>TTG		ubiquitin-activating enzyme 3 isoform 1							104.0	105.0	104.0					3																	69112186		2203	4300	6503	SO:0001819	synonymous_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69112186G>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.640C>T	3.37:g.69112186G>A						UBA3_uc003dnq.2_Silent_p.L200L|UBA3_uc011bfy.1_Silent_p.L37L|UBA3_uc011bfz.1_Silent_p.L37L	p.L214L	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	9	660	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	214	L->A: Reduces affinity for UBE2M; when associated with A-217.		Interaction with UBE2M N-terminus.		A6NLB5|A8K027|O76088|Q9NTU3	Silent	SNP	ENST00000361055.4	37	c.640C>T	CCDS2909.1																																																																																				PASS	0.423	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195		40	32	40	32	---	---	---	---
GXYLT2	727936	broad.mit.edu	37	3	73016739	73016739	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:73016739G>A	ENST00000389617.4	+	6	1179	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	340					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.D340N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTACCGTCCCGATCACTGCAT	0.498																																						uc003dpg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GAT>AAT		glycosyltransferase 8 domain containing 4							95.0	92.0	93.0					3																	73016739		2039	4194	6233	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73016739G>A	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1018G>A	3.37:g.73016739G>A	ENSP00000374268:p.Asp340Asn						p.D340N	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			6	1018	+			340			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.1018G>A	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049418	0.93740	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.21932	1.98;1.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	M	0.86502	2.82	0.80722	D	1	D	0.64830	0.994	D	0.65140	0.932	T	0.56269	-0.8007	10	0.51188	T	0.08	.	19.7923	0.96464	0.0:0.0:1.0:0.0	.	340	A0PJZ3	GXLT2_HUMAN	N	340;101	ENSP00000374268:D340N;ENSP00000420426:D101N	ENSP00000374268:D340N	D	+	1	0	GXYLT2	73099429	1.000000	0.71417	0.361000	0.25849	0.856000	0.48823	9.565000	0.98154	2.752000	0.94435	0.557000	0.71058	GAT		PASS	0.498	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		22	12	22	12	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74349027	74349027	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:74349027T>C	ENST00000263665.6	-	16	2185	c.2158A>G	c.(2158-2160)Acc>Gcc	p.T720A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	720	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T720A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACATCCCAGGTTATCACAAGT	0.507																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2158-2160)ACC>GCC		contactin 3 precursor							121.0	95.0	104.0					3																	74349027		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74349027T>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2158A>G	3.37:g.74349027T>C	ENSP00000263665:p.Thr720Ala						p.T720A	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	16	2238	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	720			Fibronectin type-III 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2158A>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.866147	0.71949	.	.	ENSG00000113805	ENST00000263665	T	0.58060	0.36	5.86	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.88570	2.965	0.58432	D	0.999995	D	0.58268	0.982	D	0.73708	0.981	T	0.77117	-0.2706	10	0.48119	T	0.1	.	12.2844	0.54783	0.1272:0.0:0.0:0.8728	.	720	Q9P232	CNTN3_HUMAN	A	720	ENSP00000263665:T720A	ENSP00000263665:T720A	T	-	1	0	CNTN3	74431717	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	5.636000	0.67848	1.000000	0.39049	0.528000	0.53228	ACC		PASS	0.507	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		21	15	21	15	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89391077	89391077	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:89391077C>T	ENST00000336596.2	+	5	1368	c.1143C>T	c.(1141-1143)cgC>cgT	p.R381R	EPHA3_ENST00000494014.1_Silent_p.R381R|EPHA3_ENST00000452448.2_Silent_p.R381R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R381R(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAAATGTCCGCTTCCTCCCTC	0.483										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - coding silent(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1141-1143)CGC>CGT		ephrin receptor EphA3 isoform a precursor							113.0	101.0	105.0					3																	89391077		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391077C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1143C>T	3.37:g.89391077C>T		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.R381R|EPHA3_uc010hon.1_RNA	p.R381R	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1368	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	381			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1143C>T	CCDS2922.1																																																																																				PASS	0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		45	31	45	31	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A	rs373983977		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCTGGCAAACGAAATTTTAAA	0.408																																						uc003drb.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1	GRCh37	CM064172	PROS1	M		c.(946-948)CGT>TGT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	G	CYS/ARG	1,4399		0,1,2199	69.0	75.0	73.0		946	3.3	1.0	3		73	0,8596		0,0,4298	no	missense	PROS1	NM_000313.3	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/677	93615439	1,12995	2200	4298	6498	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615439G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.946C>T	3.37:g.93615439G>A	ENSP00000377783:p.Arg316Cys					PROS1_uc010hoo.2_Missense_Mutation_p.R185C|PROS1_uc003dqz.3_Missense_Mutation_p.R185C	p.R316C	NM_000313	NP_000304	P07225	PROS_HUMAN			9	1287	-			316			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.946C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038462	0.55003	2.27E-4	0.0	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79653	-1.29;-1.29	4.17	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.140326	0.45606	D	0.000345	T	0.80182	0.4576	M	0.77820	2.39	0.43863	D	0.996465	D	0.64830	0.994	P	0.44477	0.451	T	0.81304	-0.0993	10	0.87932	D	0	.	9.7596	0.40524	0.0:0.0:0.527:0.473	.	316	P07225	PROS_HUMAN	C	316;185	ENSP00000377783:R316C;ENSP00000385794:R185C	ENSP00000377783:R316C	R	-	1	0	PROS1	95098129	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	2.991000	0.49409	0.929000	0.37192	0.460000	0.39030	CGT		PASS	0.408	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		22	73	22	73	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97705818	97705818	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97705818C>T	ENST00000472788.1	-	0	1114					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R51R(1)		large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TATTGTACATCCTAGAAATCT	0.323																																						uc011bgr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1111-1113)AGG>AGA		gamma-aminobutyric acid (GABA) receptor, rho 3							30.0	28.0	29.0					3																	97705818		1839	4075	5914			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97705818C>T	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97705818C>T							p.R371R	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			9	1113	-			371			Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).		Q9UIV9	Silent	SNP	ENST00000472788.1	37	c.1113G>A																																																																																					PASS	0.323	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			21	32	21	32	---	---	---	---
GABRR3	200959	broad.mit.edu	37	3	97711840	97711840	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97711840G>A	ENST00000472788.1	-	0	961					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CCTGGGGCATGGAGGCGCTCA	0.507																																						uc011bgr.1																			0					0						c.(958-960)TCC>TCT		gamma-aminobutyric acid (GABA) receptor, rho 3							123.0	124.0	124.0					3																	97711840		2164	4287	6451			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97711840G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97711840G>A							p.S320S	NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN			8	960	-			320			Helical; (Potential).		Q9UIV9	Silent	SNP	ENST00000472788.1	37	c.960C>T																																																																																					PASS	0.507	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			52	64	52	64	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806407	97806407	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97806407C>T	ENST00000358642.2	+	1	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	131					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.P131S(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CATATGTAATCCCTTGCTTTA	0.428																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(391-393)CCC>TCC		olfactory receptor, family 5, subfamily AC,							209.0	194.0	199.0					3																	97806407		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806407C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.391C>T	3.37:g.97806407C>T	ENSP00000351466:p.Pro131Ser						p.P131S	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	391	+			131			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.391C>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990517	0.74589	.	.	ENSG00000196578	ENST00000358642	T	0.01838	4.61	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.22704	0.0548	H	0.96662	3.86	0.40481	D	0.980446	D	0.89917	1.0	D	0.97110	1.0	T	0.34576	-0.9823	10	0.72032	D	0.01	-35.7994	16.6077	0.84835	0.0:1.0:0.0:0.0	.	131	Q9NZP5	O5AC2_HUMAN	S	131	ENSP00000351466:P131S	ENSP00000351466:P131S	P	+	1	0	OR5AC2	99289097	0.989000	0.36119	0.597000	0.28824	0.455000	0.32408	4.499000	0.60380	2.522000	0.85027	0.590000	0.80494	CCC		PASS	0.428	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			41	118	41	118	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868733	97868733	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97868733C>T	ENST00000437310.1	+	1	564	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GACTAACCTTCTGTAACTCCA	0.323																																						uc003dsg.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(502-504)TTC>TTT		olfactory receptor, family 5, subfamily H,							89.0	92.0	91.0					3																	97868733		2203	4299	6502	SO:0001819	synonymous_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868733C>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.504C>T	3.37:g.97868733C>T							p.F168F	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	504	+			168			Extracellular (Potential).		B9EH15	Silent	SNP	ENST00000437310.1	37	c.504C>T	CCDS33798.1																																																																																				PASS	0.323	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			31	71	31	71	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97888478	97888478	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97888478C>T	ENST00000356526.2	+	1	935	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S312L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTAAGGTTTCATACTAATAT	0.284																																						uc011bgu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(934-936)TCA>TTA		olfactory receptor, family 5, subfamily H,							27.0	28.0	28.0					3																	97888478		2121	4258	6379	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888478C>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.935C>T	3.37:g.97888478C>T	ENSP00000373195:p.Ser312Leu						p.S312L	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	935	+			312			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.935C>T	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	5.528	0.282419	0.10458	.	.	ENSG00000233412	ENST00000356526	T	0.00297	8.23	2.3	-0.592	0.11671	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20075	-1.0286	9	0.72032	D	0.01	.	5.4732	0.16682	0.0:0.3665:0.0:0.6335	.	312	A6NDH6	O5H15_HUMAN	L	312	ENSP00000373195:S312L	ENSP00000373195:S312L	S	+	2	0	OR5H15	99371168	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.821000	0.04452	-0.072000	0.12864	0.162000	0.16502	TCA		PASS	0.284	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			16	13	16	13	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983680	97983680	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97983680C>T	ENST00000383696.2	+	1	593	c.552C>T	c.(550-552)ttC>ttT	p.F184F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F184F(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GATTAACCTTCTGTAATTCCA	0.313																																						uc003dsi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(550-552)TTC>TTT		olfactory receptor, family 5, subfamily H,							74.0	77.0	76.0					3																	97983680		2203	4295	6498	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983680C>T	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.552C>T	3.37:g.97983680C>T							p.F184F	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	552	+			184			Extracellular (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.552C>T	CCDS33800.1																																																																																				PASS	0.313	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			23	43	23	43	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97984103	97984103	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:97984103T>A	ENST00000383696.2	+	1	1016	c.975T>A	c.(973-975)gtT>gtA	p.V325V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V325V(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGCAATGTTTAGATCTCAT	0.338																																						uc003dsi.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(973-975)GTT>GTA		olfactory receptor, family 5, subfamily H,							45.0	46.0	45.0					3																	97984103		2148	4255	6403	SO:0001819	synonymous_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984103T>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.975T>A	3.37:g.97984103T>A							p.V325V	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	975	+			325			Cytoplasmic (Potential).		Q6IF88	Silent	SNP	ENST00000383696.2	37	c.975T>A	CCDS33800.1																																																																																				PASS	0.338	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			22	48	22	48	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98189177	98189177	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:98189177G>A	ENST00000332650.5	+	1	854	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTATTCTATGGATCTCTTTT	0.338																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(757-759)GGA>AGA		olfactory receptor, family 5, subfamily K,							93.0	96.0	95.0					3																	98189177		2179	4293	6472	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189177G>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.757G>A	3.37:g.98189177G>A	ENSP00000373193:p.Gly253Arg						p.G253R	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	757	+			253			Helical; Name=6; (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.757G>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052583	0.55218	.	.	ENSG00000232382	ENST00000332650	T	0.39056	1.1	4.56	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001136	T	0.66645	0.2810	M	0.94063	3.49	0.23243	N	0.998054	P	0.50528	0.936	P	0.58266	0.836	T	0.63391	-0.6648	10	0.87932	D	0	-11.7485	10.3465	0.43909	0.0967:0.0:0.9033:0.0	.	253	Q8NHB7	OR5K1_HUMAN	R	253	ENSP00000373193:G253R	ENSP00000373193:G253R	G	+	1	0	OR5K1	99671867	0.058000	0.20735	0.917000	0.36280	0.789000	0.44602	0.816000	0.27267	1.125000	0.41998	0.563000	0.77884	GGA		PASS	0.338	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			19	62	19	62	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251939	98251939	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:98251939G>A	ENST00000284311.3	+	1	1197	c.1062G>A	c.(1060-1062)agG>agA	p.R354R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	354					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R354R(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCAGGAGGAGGAAGAGGTCTG	0.428																																						uc011bgy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1060-1062)AGG>AGA		G protein-coupled receptor 15							58.0	60.0	59.0					3																	98251939		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251939G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1062G>A	3.37:g.98251939G>A							p.R354R	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	1062	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	354			Cytoplasmic (Potential).		Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.1062G>A	CCDS2931.1																																																																																				PASS	0.428	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			14	44	14	44	---	---	---	---
NXPE3	91775	broad.mit.edu	37	3	101520114	101520114	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:101520114C>T	ENST00000491511.2	+	5	1085	c.129C>T	c.(127-129)atC>atT	p.I43I	NXPE3_ENST00000273347.5_Silent_p.I43I|NXPE3_ENST00000477909.1_Silent_p.I43I|NXPE3_ENST00000422132.1_Silent_p.I43I	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	43						extracellular region (GO:0005576)		p.I43I(1)									CCACTTTCATCGACAGCAGTG	0.458																																						uc003dvn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(127-129)ATC>ATT		hypothetical protein LOC91775 precursor							133.0	131.0	132.0					3																	101520114		2203	4300	6503	SO:0001819	synonymous_variant	91775					extracellular region		g.chr3:101520114C>T	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.129C>T	3.37:g.101520114C>T						FAM55C_uc010hpn.2_Silent_p.I43I	p.I43I	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN			5	766	+			43					A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	c.129C>T	CCDS2945.1																																																																																				PASS	0.458	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		31	73	31	73	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107524288	107524288	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:107524288C>T	ENST00000325805.8	+	18	3097	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	BBX_ENST00000402543.1_Missense_Mutation_p.S887F|BBX_ENST00000416476.2_Missense_Mutation_p.P601S|BBX_ENST00000406780.1_Missense_Mutation_p.S907F|BBX_ENST00000415149.2_Missense_Mutation_p.S907F			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	937					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S907F(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTACTTATTTCCTGCGCTGAC	0.468																																						uc010hpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2809-2811)TCC>TTC		HMG-BOX transcription factor BBX isoform 1							111.0	112.0	112.0					3																	107524288		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107524288C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2810C>T	3.37:g.107524288C>T	ENSP00000319974:p.Ser937Phe					BBX_uc003dwk.3_Missense_Mutation_p.S907F|BBX_uc003dwl.3_Missense_Mutation_p.P601S|BBX_uc003dwm.3_Missense_Mutation_p.S907F|BBX_uc003dwo.3_Missense_Mutation_p.P254S	p.S937F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		18	3137	+			937					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2810C>T	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.636601|2.636601	0.47049|0.47049	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347	D|D;D;D;D	0.99121|0.99226	-5.45|-5.59;-5.57;-5.5;-5.59	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98957|0.98957	0.9645|0.9645	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999991|0.999991	B|D;D	0.24721|0.89917	0.11|1.0;0.998	B|D;D	0.32677|0.91635	0.15|0.999;0.992	D|D	0.99930|0.99930	1.1315|1.1315	9|10	0.87932|0.87932	D|D	0|0	-8.3416|-8.3416	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	601|937;907	A2RRM7|Q8WY36;Q8WY36-2	.|BBX_HUMAN;.	S|F	601|907;887;937;907;127	ENSP00000403860:P601S|ENSP00000408358:S907F;ENSP00000385317:S887F;ENSP00000319974:S937F;ENSP00000385530:S907F	ENSP00000403860:P601S|ENSP00000319974:S937F	P|S	+|+	1|2	0|0	BBX|BBX	109006978|109006978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.314000|6.314000	0.72848|0.72848	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCT|TCC		PASS	0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		40	92	40	92	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108147687	108147687	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:108147687C>T	ENST00000273353.3	-	28	3470	c.3414G>A	c.(3412-3414)agG>agA	p.R1138R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1138						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1138R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCGAGTGGTCCTTTCAGCTT	0.443																																						uc003dxa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(3412-3414)AGG>AGA		myosin, heavy polypeptide 15							122.0	114.0	117.0					3																	108147687		1897	4125	6022	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147687C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3414G>A	3.37:g.108147687C>T							p.R1138R	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			28	3471	-			1138			Potential.			Silent	SNP	ENST00000273353.3	37	c.3414G>A	CCDS43127.1																																																																																				PASS	0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		29	61	29	61	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108698425	108698425	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:108698425G>A	ENST00000483760.1	-	23	2394	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L	MORC1_ENST00000232603.5_Missense_Mutation_p.S805L					MORC family CW-type zinc finger 1									p.S805L(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGACGCTGGCGAAGAAGCAAC	0.418																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2413-2415)TCG>TTG		MORC family CW-type zinc finger 1							114.0	111.0	112.0					3																	108698425		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698425G>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2351C>T	3.37:g.108698425G>A	ENSP00000417282:p.Ser784Leu					MORC1_uc011bhn.1_Missense_Mutation_p.S784L	p.S805L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			24	2501	-			805						Missense_Mutation	SNP	ENST00000483760.1	37	c.2414C>T		.	.	.	.	.	.	.	.	.	.	G	4.588	0.109295	0.08780	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05855	3.4;3.38	4.5	-2.94	0.05581	.	1.615880	0.03792	N	0.263006	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.43163	-0.9408	10	0.26408	T	0.33	2.0838	11.4012	0.49871	0.575:0.0:0.425:0.0	.	784;805	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	805;784	ENSP00000232603:S805L;ENSP00000417282:S784L	ENSP00000232603:S805L	S	-	2	0	MORC1	110181115	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.177000	0.09796	-0.826000	0.04284	-0.797000	0.03246	TCG		PASS	0.418	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			28	48	28	48	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:109031461C>T	ENST00000478945.1	-	3	358	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418																																						uc003dxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(112-114)GAA>AAA		developmental pluripotency associated 2							189.0	172.0	178.0					3																	109031461		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109031461C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.112G>A	3.37:g.109031461C>T	ENSP00000417710:p.Glu38Lys						p.E38K	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	359	-			38					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.112G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692090	0.30052	.	.	ENSG00000163530	ENST00000478945	T	0.55588	0.51	3.63	2.76	0.32466	.	0.455727	0.18584	N	0.136960	T	0.38506	0.1043	L	0.40543	1.245	0.09310	N	1	P	0.43750	0.816	B	0.39706	0.307	T	0.13764	-1.0497	10	0.30078	T	0.28	-0.8109	6.9553	0.24568	0.0:0.8764:0.0:0.1236	.	38	Q7Z7J5	DPPA2_HUMAN	K	38	ENSP00000417710:E38K	ENSP00000417710:E38K	E	-	1	0	DPPA2	110514151	0.000000	0.05858	0.007000	0.13788	0.197000	0.23852	0.034000	0.13776	1.110000	0.41699	0.561000	0.74099	GAA		PASS	0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		18	43	18	43	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111918267	111918267	+	Silent	SNP	C	C	T	rs543391842		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:111918267C>T	ENST00000305815.5	-	20	2676	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	SLC9C1_ENST00000487372.1_Silent_p.K760K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	808					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.K808K(1)									TAATTTCTTCCTTTGTTTTCA	0.289													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18750	0.0		0.0	False		,,,				2504	0.0					uc003dyu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(2422-2424)AAG>AAA		sperm-specific sodium proton exchanger							76.0	78.0	78.0					3																	111918267		2201	4298	6499	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918267C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2424G>A	3.37:g.111918267C>T						SLC9A10_uc011bhu.1_Silent_p.K71K|SLC9A10_uc010hqc.2_Silent_p.K760K	p.K808K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			20	2646	-			808					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.2424G>A	CCDS33817.1																																																																																				PASS	0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		13	29	13	29	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112324331	112324331	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:112324331C>T	ENST00000206423.3	-	8	3739	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	CCDC80_ENST00000439685.2_Missense_Mutation_p.G929E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	929					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G929E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATCCTGGTATCCTTGGTGGTA	0.473																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2785-2787)GGA>GAA		steroid-sensitive protein 1 precursor							109.0	96.0	101.0					3																	112324331		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112324331C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2786G>A	3.37:g.112324331C>T	ENSP00000206423:p.Gly929Glu					CCDC80_uc011bhv.1_Missense_Mutation_p.G902E|CCDC80_uc003dzg.2_Missense_Mutation_p.G929E	p.G929E	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			8	3004	-			929					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2786G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715226	0.48622	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.73681	-0.77;-0.77;0.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.82669	-0.0343	10	0.87932	D	0	-15.4341	20.1099	0.97909	0.0:1.0:0.0:0.0	.	940;929	Q76M96-2;Q76M96	.;CCD80_HUMAN	E	929;929;530;207	ENSP00000206423:G929E;ENSP00000411814:G929E;ENSP00000418188:G207E	ENSP00000206423:G929E	G	-	2	0	CCDC80	113807021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.228000	0.78079	2.753000	0.94483	0.585000	0.79938	GGA		PASS	0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		23	42	23	42	---	---	---	---
BOC	91653	broad.mit.edu	37	3	112997105	112997105	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:112997105G>T	ENST00000495514.1	+	10	2406		c.e10+1		BOC_ENST00000355385.3_Splice_Site|BOC_ENST00000273395.4_Splice_Site|BOC_ENST00000497495.1_Splice_Site			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCCGAACTGGTGAGAGTCAA	0.562																																						uc003dzx.2																			1	Unknown(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.e10+1		brother of CDO precursor							77.0	66.0	70.0					3																	112997105		2203	4300	6503	SO:0001630	splice_region_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112997105G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1702+1G>T	3.37:g.112997105G>T						BOC_uc003dzy.2_Splice_Site_p.G568_splice|BOC_uc003dzz.2_Splice_Site_p.G569_splice|BOC_uc003eab.2_Splice_Site_p.G269_splice|BOC_uc003eac.2_5'Flank	p.G568_splice	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		10	2323	+								A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Splice_Site	SNP	ENST00000495514.1	37	c.1702_splice	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451915	0.84209	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2271	0.89921	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BOC	114479795	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	9.094000	0.94168	2.729000	0.93468	0.563000	0.77884	.		PASS	0.562	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	Intron	28	37	28	37	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890720	113890720	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:113890720G>A	ENST00000460779.1	-	3	409	c.120C>T	c.(118-120)atC>atT	p.I40I	DRD3_ENST00000383673.2_Silent_p.I40I|DRD3_ENST00000467632.1_Silent_p.I40I|DRD3_ENST00000295881.7_Silent_p.I40I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	40					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.I40I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGATGGCCAGGATGAGCGCGC	0.612																																						uc003ebd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(118-120)ATC>ATT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						71.0	63.0	66.0					3																	113890720		2203	4300	6503	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890720G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.120C>T	3.37:g.113890720G>A						DRD3_uc010hqn.1_Silent_p.I40I|DRD3_uc003ebb.1_Silent_p.I40I|DRD3_uc003ebc.1_Silent_p.I40I	p.I40I	NM_000796	NP_000787	P35462	DRD3_HUMAN			3	543	-			40			Helical; Name=1.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.120C>T	CCDS2978.1																																																																																				PASS	0.612	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		10	38	10	38	---	---	---	---
ZNF80	7634	broad.mit.edu	37	3	113955416	113955416	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:113955416G>A	ENST00000482457.2	-	1	1009	c.506C>T	c.(505-507)aCc>aTc	p.T169I	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	169					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.T169I(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTAGTAAAAGGTTTTTCCACA	0.488																																					GBM(23;986 1114 21716)	uc010hqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)ACC>ATC		zinc finger protein 80							112.0	115.0	114.0					3																	113955416		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955416G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.506C>T	3.37:g.113955416G>A	ENSP00000417192:p.Thr169Ile					ZNF80_uc003ebf.2_RNA	p.T169I	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	1010	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	169			C2H2-type 5.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.506C>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954123	0.18431	.	.	ENSG00000174255	ENST00000482457	T	0.07688	3.17	2.75	0.871	0.19107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.58669	1.825	0.09310	N	1	B	0.24533	0.105	B	0.22386	0.039	T	0.23154	-1.0196	9	0.66056	D	0.02	.	9.0284	0.36243	0.0:0.0:0.6068:0.3932	.	169	P51504	ZNF80_HUMAN	I	169	ENSP00000417192:T169I	ENSP00000309812:T169I	T	-	2	0	ZNF80	115438106	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	-0.671000	0.05250	0.208000	0.20626	-0.310000	0.09108	ACC		PASS	0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		36	35	36	35	---	---	---	---
TIGIT	201633	broad.mit.edu	37	3	114014420	114014420	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:114014420G>T	ENST00000486257.1	+	3	347	c.90G>T	c.(88-90)acG>acT	p.T30T	TIGIT_ENST00000383671.3_Silent_p.T30T|TIGIT_ENST00000481065.1_Silent_p.T97T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.T30T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TAGAAACAACGGGGAACATTT	0.507																																						uc003ebg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(88-90)ACG>ACT		T cell immunoreceptor with Ig and ITIM domains							157.0	158.0	158.0					3																	114014420		2203	4300	6503	SO:0001819	synonymous_variant	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014420G>T	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.90G>T	3.37:g.114014420G>T							p.T30T	NM_173799	NP_776160	Q495A1	TIGIT_HUMAN			2	124	+			30			Extracellular (Potential).|Ig-like V-type.		Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	c.90G>T	CCDS2980.1																																																																																				PASS	0.507	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		6	257	6	257	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069570	114069570	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:114069570G>A	ENST00000474710.1	-	4	1533	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	ZBTB20_ENST00000481632.1_Missense_Mutation_p.S379F|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S379F|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S379F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S379F|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S379F|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S379F	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	452						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 negative regulation of transcription (GO:0001078)	p.S379F(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTCTTGTCGGAGCTGTTGCT	0.547																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1354-1356)TCC>TTC		zinc finger and BTB domain containing 20 isoform							110.0	87.0	95.0					3																	114069570		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069570G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1355C>T	3.37:g.114069570G>A	ENSP00000419153:p.Ser452Phe					ZBTB20_uc003ebj.2_Missense_Mutation_p.S379F|ZBTB20_uc010hqp.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebk.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebl.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebm.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebn.2_Missense_Mutation_p.S379F|uc003ebo.1_5'Flank	p.S452F	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1535	-			452					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1355C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142494	0.37825	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.79;2.78;2.78	5.41	5.41	0.78517	.	0.165226	0.52532	D	0.000063	T	0.09992	0.0245	N	0.19112	0.55	0.53005	D	0.999963	B	0.18013	0.025	B	0.12837	0.008	T	0.15809	-1.0424	10	0.48119	T	0.1	.	19.1985	0.93699	0.0:0.0:1.0:0.0	.	452	Q9HC78	ZBT20_HUMAN	F	379;379;379;379;452;379;379	ENSP00000420324:S379F;ENSP00000377375:S379F;ENSP00000418092:S379F;ENSP00000419902:S379F;ENSP00000419153:S452F;ENSP00000349803:S379F;ENSP00000417307:S379F	ENSP00000349803:S379F	S	-	2	0	ZBTB20	115552260	0.999000	0.42202	0.991000	0.47740	0.996000	0.88848	2.731000	0.47343	2.546000	0.85860	0.557000	0.71058	TCC		PASS	0.547	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		36	38	36	38	---	---	---	---
LSAMP	4045	broad.mit.edu	37	3	115560810	115560810	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:115560810C>T	ENST00000490035.2	-	6	1300	c.801G>A	c.(799-801)aaG>aaA	p.K267K	LSAMP_ENST00000539563.1_Silent_p.K264K|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	267	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K267K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTCCGTGCTCTTAATCTCAA	0.483																																						uc003ebt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)AAG>AAA		limbic system-associated membrane protein							100.0	88.0	92.0					3																	115560810		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560810C>T	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.801G>A	3.37:g.115560810C>T						LSAMP_uc011bis.1_Silent_p.K267K	p.K267K	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1301	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	267			Ig-like C2-type 3.		Q8IV49	Silent	SNP	ENST00000490035.2	37	c.801G>A	CCDS2982.1																																																																																				PASS	0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		36	41	36	41	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621729	118621729	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:118621729T>G	ENST00000393775.2	-	7	1239	c.934A>C	c.(934-936)Acc>Ccc	p.T312P	IGSF11_ENST00000441144.2_Missense_Mutation_p.T287P|IGSF11_ENST00000354673.2_Missense_Mutation_p.T311P|IGSF11_ENST00000491903.1_Missense_Mutation_p.T284P|IGSF11_ENST00000425327.2_Missense_Mutation_p.T311P|IGSF11_ENST00000489689.1_Missense_Mutation_p.T288P	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	312					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T311P(1)|p.T312P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGGAAGAGGTTAGTGTGTTG	0.433																																						uc003ebw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(934-936)ACC>CCC		immunoglobulin superfamily, member 11 isoform b							124.0	130.0	128.0					3																	118621729		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621729T>G	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.934A>C	3.37:g.118621729T>G	ENSP00000377370:p.Thr312Pro					IGSF11_uc011biv.1_Missense_Mutation_p.T284P|IGSF11_uc003ebx.2_Missense_Mutation_p.T288P|IGSF11_uc003eby.2_Missense_Mutation_p.T311P|IGSF11_uc003ebz.2_Missense_Mutation_p.T287P|IGSF11_uc010hqs.2_Missense_Mutation_p.T311P	p.T312P	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1181	-			312			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.934A>C	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158702	0.78226	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.85773	-1.06;-1.28;-2.03;-1.06;-2.0;-1.81	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.996;0.996	D	0.86029	0.1512	10	0.30078	T	0.28	.	14.7103	0.69225	0.0:0.0:0.0:1.0	.	284;287;311;288;312	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	P	311;312;288;311;287;284	ENSP00000406092:T311P;ENSP00000377370:T312P;ENSP00000420486:T288P;ENSP00000346700:T311P;ENSP00000401240:T287P;ENSP00000417413:T284P	ENSP00000346700:T311P	T	-	1	0	IGSF11	120104419	1.000000	0.71417	0.994000	0.49952	0.775000	0.43874	7.436000	0.80404	2.263000	0.75096	0.533000	0.62120	ACC		PASS	0.433	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			46	69	46	69	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118648981	118648981	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:118648981G>A	ENST00000393775.2	-	2	499	c.194C>T	c.(193-195)tCc>tTc	p.S65F	IGSF11_ENST00000441144.2_Missense_Mutation_p.S64F|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000354673.2_Missense_Mutation_p.S64F|IGSF11_ENST00000491903.1_Missense_Mutation_p.S65F|IGSF11_ENST00000425327.2_Missense_Mutation_p.S64F|IGSF11_ENST00000489689.1_Missense_Mutation_p.S65F	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	65	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S64F(1)|p.S65F(1)|p.S64Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGCATTGGAGAGAGGAGT	0.507																																						uc003ebw.2																			3	Substitution - Missense(3)		lung(2)|autonomic_ganglia(1)		0						c.(193-195)TCC>TTC		immunoglobulin superfamily, member 11 isoform b							134.0	118.0	123.0					3																	118648981		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118648981G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.194C>T	3.37:g.118648981G>A	ENSP00000377370:p.Ser65Phe					IGSF11_uc011biv.1_Missense_Mutation_p.S65F|IGSF11_uc003ebx.2_Missense_Mutation_p.S65F|IGSF11_uc003eby.2_Missense_Mutation_p.S64F|IGSF11_uc003ebz.2_Missense_Mutation_p.S64F|IGSF11_uc010hqs.2_Missense_Mutation_p.S64F	p.S65F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			2	441	-			65			Ig-like V-type.|Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.194C>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954300	0.92726	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401;ENST00000480431	D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.41	5.41	0.78517	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180440	0.50627	D	0.000114	D	0.95478	0.8531	L	0.41492	1.28	0.58432	D	0.999998	P;D;D;D;P	0.55385	0.949;0.963;0.971;0.971;0.949	P;P;P;P;P	0.62298	0.828;0.839;0.815;0.9;0.828	D	0.95610	0.8671	10	0.66056	D	0.02	.	18.3617	0.90376	0.0:0.0:1.0:0.0	.	65;64;64;65;65	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	F	64;65;65;64;64;65;6;6	ENSP00000406092:S64F;ENSP00000377370:S65F;ENSP00000420486:S65F;ENSP00000346700:S64F;ENSP00000401240:S64F;ENSP00000417413:S65F	ENSP00000346700:S64F	S	-	2	0	IGSF11	120131671	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.231000	0.95317	2.821000	0.97095	0.655000	0.94253	TCC		PASS	0.507	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			41	50	41	50	---	---	---	---
B4GALT4	8702	broad.mit.edu	37	3	118943002	118943002	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:118943002G>A	ENST00000483209.1	-	5	1218	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	B4GALT4_ENST00000467604.1_Missense_Mutation_p.H193Y|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.H193Y|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.H193Y			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	193					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.H193Y(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCCACATCGTGGAATATAAAG	0.453																																						uc003ecg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CAC>TAC		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						113.0	109.0	110.0					3																	118943002		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118943002G>A	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.577C>T	3.37:g.118943002G>A	ENSP00000420161:p.His193Tyr					B4GALT4_uc003ece.1_Missense_Mutation_p.H193Y|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.H193Y|B4GALT4_uc003eci.2_Missense_Mutation_p.H193Y|B4GALT4_uc011biy.1_RNA	p.H193Y	NM_212543	NP_997708	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	5	1218	-			193			Lumenal (Potential).		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.577C>T	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210472	0.79240	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	H	0.95816	3.725	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.80879	-0.1185	10	0.87932	D	0	-21.2782	19.3906	0.94581	0.0:0.0:1.0:0.0	.	193	O60513	B4GT4_HUMAN	Y	193	ENSP00000420161:H193Y;ENSP00000417226:H193Y;ENSP00000352144:H193Y;ENSP00000377360:H193Y	ENSP00000352144:H193Y	H	-	1	0	B4GALT4	120425692	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.755000	0.85180	2.827000	0.97445	0.650000	0.86243	CAC		PASS	0.453	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		38	40	38	40	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119336889	119336889	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:119336889C>T	ENST00000273371.4	+	7	850	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PLA1A_ENST00000495992.1_Missense_Mutation_p.H244Y|PLA1A_ENST00000494440.1_Missense_Mutation_p.H244Y|PLA1A_ENST00000488919.1_Missense_Mutation_p.H87Y	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	260					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.H260Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATCTGTGATCACATGAGGGC	0.463																																						uc003ecu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(778-780)CAC>TAC		phospholipase A1 member A precursor							220.0	218.0	218.0					3																	119336889		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119336889C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.778C>T	3.37:g.119336889C>T	ENSP00000273371:p.His260Tyr					PLA1A_uc003ecv.2_Missense_Mutation_p.H244Y|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.H87Y	p.H260Y	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			7	817	+			260				Charge relay system (By similarity).	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.778C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531861	0.64972	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	5.26	5.26	0.73747	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	H	0.96208	3.785	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99136	1.0854	10	0.87932	D	0	-21.1344	16.6467	0.85178	0.0:1.0:0.0:0.0	.	244;260	Q53H76-3;Q53H76	.;PLA1A_HUMAN	Y	260;87;244;244;126	ENSP00000273371:H260Y;ENSP00000420625:H87Y;ENSP00000417326:H244Y;ENSP00000418793:H244Y;ENSP00000417295:H126Y	ENSP00000273371:H260Y	H	+	1	0	PLA1A	120819579	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	7.367000	0.79558	2.465000	0.83290	0.555000	0.69702	CAC		PASS	0.463	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			63	127	63	127	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119458116	119458116	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:119458116G>A	ENST00000273390.5	+	12	1553	c.1476G>A	c.(1474-1476)atG>atA	p.M492I		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	328						mitochondrion (GO:0005739)		p.M492I(1)									AAGAAGAAATGGAAATGGCTG	0.428																																						uc003ede.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1474-1476)ATG>ATA		AAT1-alpha							153.0	162.0	159.0					3																	119458116		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119458116G>A	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.1476G>A	3.37:g.119458116G>A	ENSP00000273390:p.Met492Ile					C3orf15_uc010hqy.1_Missense_Mutation_p.M492I|C3orf15_uc010hqz.2_Missense_Mutation_p.M430I|C3orf15_uc011bjd.1_Missense_Mutation_p.M366I|C3orf15_uc011bje.1_Missense_Mutation_p.M472I|C3orf15_uc010hra.1_Missense_Mutation_p.M253I	p.M492I	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	12	1553	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1476G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	9.816	1.184466	0.21870	.	.	ENSG00000183833	ENST00000273390	T	0.20881	2.04	5.4	-2.92	0.05615	.	0.320151	0.35378	N	0.003241	T	0.04318	0.0119	N	0.01048	-1.04	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34329	-0.9833	10	0.18710	T	0.47	-1.1672	4.3101	0.10967	0.4271:0.101:0.3735:0.0984	.	253;430;492;492	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	I	492	ENSP00000273390:M492I	ENSP00000273390:M492I	M	+	3	0	C3orf15	120940806	0.010000	0.17322	0.686000	0.30086	0.985000	0.73830	-0.020000	0.12525	-0.343000	0.08351	-0.254000	0.11334	ATG		PASS	0.428	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		59	99	59	99	---	---	---	---
FSTL1	11167	broad.mit.edu	37	3	120134863	120134864	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:120134863_120134864CC>TT	ENST00000295633.3	-	3	430_431	c.74_75GG>AA	c.(73-75)aGG>aAA	p.R25K	FSTL1_ENST00000424703.2_Intron	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	25					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R25K(2)|p.R25R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGATTTGCTCCTTAGCTCTTC	0.465																																						uc003eds.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(73-75)AGG>AGA|c.(73-75)AGG>AAG		follistatin-like 1 precursor																																				SO:0001583	missense	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120134863C>T|g.chr3:120134864C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.74_75delinsTT	3.37:g.120134863_120134864delinsTT	ENSP00000295633:p.Arg25Lys					FSTL1_uc011bjh.1_Intron|FSTL1_uc010hrb.2_Silent_p.R25R|FSTL1_uc011bjh.1_Intron|FSTL1_uc010hrb.2_Missense_Mutation_p.R25K	p.R25R|p.R25K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	250|249	-			25					A8K523|B4DTT5|D3DN90|Q549Z0	Silent|Missense_Mutation	SNP	ENST00000295633.3	37	c.75G>A|c.74G>A	CCDS2998.1																																																																																				PASS	0.465	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		23	58|60	23	58	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121396221	121396221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:121396221G>A	ENST00000340645.5	-	16	9060	c.8935C>T	c.(8935-8937)Cag>Tag	p.Q2979*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q2984*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2979					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q2979*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGAGCTGCTGATCTTTATCT	0.418																																						uc003eei.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(8935-8937)CAG>TAG		golgi autoantigen, golgin subfamily b,							161.0	154.0	156.0					3																	121396221		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121396221G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8935C>T	3.37:g.121396221G>A	ENSP00000341848:p.Gln2979*					GOLGB1_uc010hrc.2_Nonsense_Mutation_p.Q2984*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.Q2945*	p.Q2979*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	16	9061	-			2979			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.8935C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	51	17.821318	0.99894	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.88	5.88	0.94601	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.7382	0.77863	0.0:0.0:1.0:0.0	.	.	.	.	X	2979;2984	.	ENSP00000341848:Q2979X	Q	-	1	0	GOLGB1	122878911	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.928000	0.48908	2.779000	0.95612	0.650000	0.86243	CAG		PASS	0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		20	47	20	47	---	---	---	---
ILDR1	286676	broad.mit.edu	37	3	121724179	121724179	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:121724179C>T	ENST00000344209.5	-	3	417	c.291G>A	c.(289-291)cgG>cgA	p.R97R	ILDR1_ENST00000462014.1_Silent_p.R109R|ILDR1_ENST00000273691.3_Silent_p.R97R|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.R97R	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	97	Ig-like V-type.		R -> Q (in DFNB42). {ECO:0000269|PubMed:21255762}.		positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.R97R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCGAACTTCCCGCTGGTTGT	0.602																																						uc003ees.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(289-291)CGG>CGA		immunoglobulin-like domain containing receptor							58.0	57.0	58.0					3																	121724179		2203	4300	6503	SO:0001819	synonymous_variant	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724179C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.291G>A	3.37:g.121724179C>T						ILDR1_uc003eeq.2_Silent_p.R109R|ILDR1_uc003eer.2_Silent_p.R97R|ILDR1_uc010hrg.2_Silent_p.R97R	p.R97R	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	397	-			97		R -> Q (in DFNB42).	Extracellular (Potential).|Ig-like V-type.		Q6ZP61|Q7Z578	Silent	SNP	ENST00000344209.5	37	c.291G>A	CCDS56271.1																																																																																				PASS	0.602	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		12	19	12	19	---	---	---	---
CASR	846	broad.mit.edu	37	3	121980931	121980931	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:121980931A>T	ENST00000490131.1	+	4	1421	c.1049A>T	c.(1048-1050)gAg>gTg	p.E350V	CASR_ENST00000296154.5_Missense_Mutation_p.E350V|CASR_ENST00000498619.1_Missense_Mutation_p.E350V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	350					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.E350V(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)	TTTGCCAAGGAGTTTTGGGAA	0.507																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(1048-1050)GAG>GTG		calcium-sensing receptor precursor	Cinacalcet(DB01012)						65.0	65.0	65.0					3																	121980931		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.chr3:121980931A>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.1049A>T	3.37:g.121980931A>T	ENSP00000418685:p.Glu350Val					CASR_uc003eew.3_Missense_Mutation_p.E350V	p.E350V	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1421	+			350			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1049A>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304756	0.81247	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.87571	-2.27;-2.27;-2.27	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95259	0.8367	10	0.54805	T	0.06	.	15.81	0.78552	1.0:0.0:0.0:0.0	.	350;350	E7ENE0;P41180	.;CASR_HUMAN	V	350	ENSP00000418685:E350V;ENSP00000420194:E350V;ENSP00000296154:E350V	ENSP00000296154:E350V	E	+	2	0	CASR	123463621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	GAG		PASS	0.507	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		29	35	29	35	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124632524	124632524	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:124632524G>A	ENST00000311075.3	-	7	1004	c.966C>T	c.(964-966)acC>acT	p.T322T		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	323	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.T322T(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CACACCGAAGGGTCACTGAGA	0.413																																						uc003ehq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(964-966)ACC>ACT		mucin 13, epithelial transmembrane							72.0	67.0	69.0					3																	124632524		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124632524G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.966C>T	3.37:g.124632524G>A							p.T322T	NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN			7	990	-			322			EGF-like 2.|Extracellular (Potential).		Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.966C>T																																																																																					PASS	0.413	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		22	36	22	36	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125828880	125828880	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:125828880G>A	ENST00000393434.2	-	20	2603	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.H762Y|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.H651Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.H752Y|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	752	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.H752Y(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGGTGGGCATGGTGATTCTGC	0.612																																						uc003eim.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2254-2256)CAT>TAT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						152.0	117.0	129.0					3																	125828880		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125828880G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2254C>T	3.37:g.125828880G>A	ENSP00000377083:p.His752Tyr					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.H651Y|ALDH1L1_uc003ein.1_Missense_Mutation_p.H287Y	p.H752Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	20	2444	-			752			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2254C>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	7.920	0.738414	0.15574	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	3.91	2.99	0.34606	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.415403	0.25919	N	0.027443	T	0.65375	0.2685	N	0.12182	0.205	0.80722	D	1	P;D;B	0.54207	0.614;0.965;0.021	B;P;B	0.55667	0.334;0.781;0.154	T	0.66460	-0.5918	10	0.87932	D	0	.	6.4269	0.21773	0.0:0.2046:0.5848:0.2106	.	651;287;752	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	Y	762;752;651;752	ENSP00000273450:H762Y;ENSP00000420293:H752Y;ENSP00000395881:H651Y;ENSP00000377083:H752Y	ENSP00000273450:H762Y	H	-	1	0	ALDH1L1	127311570	1.000000	0.71417	0.963000	0.40424	0.009000	0.06853	1.497000	0.35649	0.810000	0.34279	0.491000	0.48974	CAT		PASS	0.612	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		14	28	14	28	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125877439	125877439	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:125877439G>A	ENST00000393434.2	-	3	520	c.171C>T	c.(169-171)tcC>tcT	p.S57S	ALDH1L1_ENST00000413612.1_5'Flank|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000273450.3_Silent_p.S67S|ALDH1L1_ENST00000393431.2_Silent_p.S57S|ALDH1L1_ENST00000452905.2_Silent_p.S57S|ALDH1L1_ENST00000472186.1_Silent_p.S57S|ALDH1L1_ENST00000455064.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	57	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.S57S(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CACGCCACCGGGAGTACTTGA	0.572																																						uc003eim.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(169-171)TCC>TCT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						107.0	101.0	103.0					3																	125877439		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125877439G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.171C>T	3.37:g.125877439G>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.S57S|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.S83S|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron	p.S57S	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	3	361	-			57			GART.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.171C>T	CCDS3034.1																																																																																				PASS	0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		25	35	25	35	---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126071359	126071359	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126071359G>A	ENST00000296233.3	-	2	637	c.407C>T	c.(406-408)cCc>cTc	p.P136L	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	136					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.P136L(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		AGGCTGGAAGGGCCGTGGGAC	0.612																																						uc011bkk.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(406-408)CCC>CTC		Kruppel-like factor 15							39.0	41.0	40.0					3																	126071359		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071359G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.407C>T	3.37:g.126071359G>A	ENSP00000296233:p.Pro136Leu						p.P136L	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	589	-			136						Missense_Mutation	SNP	ENST00000296233.3	37	c.407C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	8.698	0.909080	0.17833	.	.	ENSG00000163884	ENST00000296233	T	0.05447	3.44	4.45	4.45	0.53987	.	0.366438	0.30781	N	0.008898	T	0.06645	0.0170	L	0.47716	1.5	0.45806	D	0.998683	B	0.09022	0.002	B	0.08055	0.003	T	0.21552	-1.0242	10	0.31617	T	0.26	.	9.0711	0.36493	0.1041:0.0:0.8959:0.0	.	136	Q9UIH9	KLF15_HUMAN	L	136	ENSP00000296233:P136L	ENSP00000296233:P136L	P	-	2	0	KLF15	127554049	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.319000	0.51983	2.415000	0.81967	0.591000	0.81541	CCC		PASS	0.612	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		14	36	14	36	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126202227	126202227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126202227C>T	ENST00000290868.2	-	19	1928	c.1875G>A	c.(1873-1875)tgG>tgA	p.W625*	UROC1_ENST00000383579.3_Nonsense_Mutation_p.W685*	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	625					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.W685*(1)|p.W625*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGAGACATCCCAGCTGAGCA	0.622																																						uc003eiz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1873-1875)TGG>TGA		urocanase domain containing 1 isoform 1							66.0	59.0	62.0					3																	126202227		2203	4300	6503	SO:0001587	stop_gained	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126202227C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1875G>A	3.37:g.126202227C>T	ENSP00000290868:p.Trp625*					UROC1_uc010hsi.1_Nonsense_Mutation_p.W685*	p.W625*	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	19	1907	-			625					E9PE13|Q14C64|Q68CJ7	Nonsense_Mutation	SNP	ENST00000290868.2	37	c.1875G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	37	6.414616	0.97546	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.598	16.6956	0.85334	0.0:1.0:0.0:0.0	.	.	.	.	X	625;685	.	ENSP00000290868:W625X	W	-	3	0	UROC1	127684917	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.040000	0.76551	2.545000	0.85829	0.479000	0.44913	TGG		PASS	0.622	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		10	15	10	15	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126736309	126736309	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126736309C>T	ENST00000393409.2	+	17	3318	c.3318C>T	c.(3316-3318)gcC>gcT	p.A1106A	PLXNA1_ENST00000251772.4_Silent_p.A1083A	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1106	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.A1083A(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TATGCCGCGCCCCGTCTGTGG	0.677																																						uc003ejg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3247-3249)GCC>GCT		plexin A1							53.0	54.0	54.0					3																	126736309		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736309C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3318C>T	3.37:g.126736309C>T							p.A1083A	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	17	3253	+			1106			Extracellular (Potential).|IPT/TIG 3.			Silent	SNP	ENST00000393409.2	37	c.3249C>T	CCDS33847.2																																																																																				PASS	0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		22	25	22	25	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126746880	126746880	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126746880C>T	ENST00000393409.2	+	23	4460	c.4460C>T	c.(4459-4461)tCc>tTc	p.S1487F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1464F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1487					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.S1464F(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACGCTACTCCCTGAGTGAG	0.632																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4390-4392)TCC>TTC		plexin A1							131.0	105.0	114.0					3																	126746880		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126746880C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4460C>T	3.37:g.126746880C>T	ENSP00000377061:p.Ser1487Phe					PLXNA1_uc003ejh.2_Missense_Mutation_p.S132F	p.S1464F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	23	4395	+			1487			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.4391C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	c	23.4	4.412317	0.83340	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14391	2.51;2.51	3.62	3.62	0.41486	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000012	T	0.44850	0.1313	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.60209	-0.7308	10	0.87932	D	0	.	15.8137	0.78583	0.0:1.0:0.0:0.0	.	101;1487	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	F	1487;1464	ENSP00000377061:S1487F;ENSP00000251772:S1464F	ENSP00000251772:S1464F	S	+	2	0	PLXNA1	128229570	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.584000	0.82572	2.024000	0.59613	0.306000	0.20318	TCC		PASS	0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		27	44	27	44	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126751655	126751655	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126751655C>T	ENST00000393409.2	+	30	5571	c.5571C>T	c.(5569-5571)tcC>tcT	p.S1857S	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Silent_p.S1834S	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1857					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.S1834S(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGATCTACTCCTACATCACCA	0.617																																						uc003ejg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5500-5502)TCC>TCT		plexin A1							97.0	82.0	87.0					3																	126751655		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751655C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5571C>T	3.37:g.126751655C>T						PLXNA1_uc003ejh.2_Silent_p.S502S	p.S1834S	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	30	5506	+			1857			Cytoplasmic (Potential).			Silent	SNP	ENST00000393409.2	37	c.5502C>T	CCDS33847.2																																																																																				PASS	0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		27	61	27	61	---	---	---	---
C3orf56	285311	broad.mit.edu	37	3	126916034	126916034	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:126916034C>T	ENST00000398112.1	+	2	746	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	169								p.A169V(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCAGGGCTGCCGTAGAGGGG	0.642																																						uc003eji.1																			1	Substitution - Missense(1)		lung(1)								c.(505-507)GCC>GTC		RecName: Full=Putative uncharacterized protein C3orf56;							35.0	39.0	38.0					3																	126916034		1884	4120	6004	SO:0001583	missense	0							g.chr3:126916034C>T	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.506C>T	3.37:g.126916034C>T	ENSP00000381182:p.Ala169Val						p.A169V							2	746	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.506C>T		.	.	.	.	.	.	.	.	.	.	C	2.210	-0.380819	0.05000	.	.	ENSG00000214324	ENST00000398112	.	.	.	1.95	1.04	0.20106	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.27673	-1.0067	7	0.87932	D	0	.	7.3186	0.26515	0.0:0.838:0.0:0.162	.	169	Q8N813	CC056_HUMAN	V	169	.	ENSP00000381182:A169V	A	+	2	0	C3orf56	128398724	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.938000	0.01546	-0.005000	0.14395	-1.128000	0.01989	GCC		PASS	0.642	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			13	26	13	26	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379844	127379844	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:127379844C>T	ENST00000342480.6	+	3	1012	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	325					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.P325S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						AGATGAAGATCCCCTTGGCTC	0.587																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(973-975)CCC>TCC		podocalyxin-like 2 precursor							78.0	64.0	69.0					3																	127379844		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379844C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.973C>T	3.37:g.127379844C>T	ENSP00000345359:p.Pro325Ser						p.P325S	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	997	+			325			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.973C>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	C	2.157	-0.393024	0.04899	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.21734	1.99	4.67	2.83	0.33086	.	0.853418	0.10456	N	0.672558	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.33394	-0.9870	10	0.21540	T	0.41	-0.6896	9.1004	0.36664	0.1668:0.6726:0.1606:0.0	.	325	Q9NZ53	PDXL2_HUMAN	S	325	ENSP00000345359:P325S	ENSP00000304498:P325S	P	+	1	0	PODXL2	128862534	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.049000	0.11924	0.478000	0.27488	0.491000	0.48974	CCC		PASS	0.587	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		20	46	20	46	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127387383	127387383	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:127387383C>T	ENST00000342480.6	+	5	1345	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	436					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.L436L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCACATCTCTCTGAGCAAGCC	0.682																																						uc003ejq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1306-1308)CTG>TTG		podocalyxin-like 2 precursor							21.0	19.0	19.0					3																	127387383		2202	4298	6500	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127387383C>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1306C>T	3.37:g.127387383C>T							p.L436L	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			5	1330	+			436			Extracellular (Potential).		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.1306C>T	CCDS3044.1																																																																																				PASS	0.682	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		3	7	3	7	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127642514	127642514	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:127642514C>T	ENST00000405109.1	+	2	1077	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.H204Y|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	204	BACK.							p.H204Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ATGGGTAAATCATAACAAAGA	0.358																																						uc010hsr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(610-612)CAT>TAT		kelch domain containing 6							69.0	62.0	65.0					3																	127642514		1877	4105	5982	SO:0001583	missense	166348							g.chr3:127642514C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.610C>T	3.37:g.127642514C>T	ENSP00000385957:p.His204Tyr					KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.H204Y	p.H204Y	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			1	613	+			204			BACK.		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.610C>T	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190738	0.21954	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.69435	-0.4;-0.4	5.92	5.92	0.95590	BTB/Kelch-associated (2);	.	.	.	.	T	0.61899	0.2384	L	0.52573	1.65	0.40067	D	0.975966	B	0.29232	0.238	B	0.24974	0.057	T	0.58301	-0.7660	9	0.14656	T	0.56	.	20.3138	0.98647	0.0:1.0:0.0:0.0	.	204	Q3ZCT8	KBTBC_HUMAN	Y	204	ENSP00000385957:H204Y;ENSP00000385879:H204Y	ENSP00000385957:H204Y	H	+	1	0	KBTBD12	129125204	1.000000	0.71417	0.041000	0.18516	0.978000	0.69477	2.714000	0.47202	2.814000	0.96858	0.585000	0.79938	CAT		PASS	0.358	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		18	32	18	32	---	---	---	---
SEC61A1	29927	broad.mit.edu	37	3	127783795	127783795	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:127783795G>T	ENST00000243253.3	+	8	876	c.692G>T	c.(691-693)cGg>cTg	p.R231L	SEC61A1_ENST00000464451.1_Missense_Mutation_p.R237L|SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.R111L|RUVBL1_ENST00000464873.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	231					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.R231L(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CGAGCCCTTCGGGAGGCGTTC	0.507																																						uc003ekb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(691-693)CGG>CTG		Sec61 alpha 1 subunit							134.0	128.0	130.0					3																	127783795		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127783795G>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.692G>T	3.37:g.127783795G>T	ENSP00000243253:p.Arg231Leu					RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.R178L|SEC61A1_uc003ekd.2_Missense_Mutation_p.R111L|SEC61A1_uc003ekg.2_Intron	p.R231L	NM_013336	NP_037468	P61619	S61A1_HUMAN			8	876	+			231			Lumenal (Potential).		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.692G>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675735	0.47781	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.6	5.6	0.85130	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	L	0.52905	1.665	0.80722	D	1	B	0.23591	0.088	B	0.34180	0.177	T	0.61232	-0.7104	9	0.16896	T	0.51	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	231	P61619	S61A1_HUMAN	L	237;231;111	.	ENSP00000243253:R231L	R	+	2	0	SEC61A1	129266485	1.000000	0.71417	0.016000	0.15963	0.022000	0.10575	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	CGG		PASS	0.507	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		4	79	4	79	---	---	---	---
HMCES	56941	broad.mit.edu	37	3	129007816	129007816	+	Silent	SNP	C	C	A	rs139766481		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:129007816C>A	ENST00000383463.4	+	3	392	c.303C>A	c.(301-303)acC>acA	p.T101T	HMCES_ENST00000389735.3_Silent_p.T101T|HMCES_ENST00000417226.2_Silent_p.T101T|HMCES_ENST00000502878.2_Silent_p.T101T	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	101							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.T101T(1)									GTAGTGATACCGTAATGGAGA	0.473																																						uc003elt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(301-303)ACC>ACA		hypothetical protein LOC56941							121.0	105.0	111.0					3																	129007816		2203	4300	6503	SO:0001819	synonymous_variant	56941							g.chr3:129007816C>A	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.303C>A	3.37:g.129007816C>A						C3orf37_uc003elu.2_Silent_p.T101T|C3orf37_uc003elv.2_Silent_p.T101T|C3orf37_uc003elw.2_Silent_p.T101T	p.T101T	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN			3	391	+			101					A6NJR9|Q96G34|Q9NRP3	Silent	SNP	ENST00000383463.4	37	c.303C>A	CCDS33852.1																																																																																				PASS	0.473	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		4	66	4	66	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129278576	129278576	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:129278576G>A	ENST00000324093.4	-	32	5362	c.5184C>T	c.(5182-5184)atC>atT	p.I1728I	PLXND1_ENST00000393239.1_Silent_p.I1728I|PLXND1_ENST00000504689.1_5'Flank	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1728					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.I1728I(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTCTTCACGGATACTCAGAA	0.602																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(5182-5184)ATC>ATT		plexin D1 precursor							123.0	130.0	128.0					3																	129278576		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129278576G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5184C>T	3.37:g.129278576G>A						PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.I396I	p.I1728I	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			32	5284	-			1728			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.5184C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	8.090	0.774382	0.16051	.	.	ENSG00000004399	ENST00000506979	.	.	.	4.95	3.16	0.36331	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56475	-0.7973	4	.	.	.	.	11.0629	0.47957	0.1508:0.0:0.8492:0.0	.	.	.	.	S	72	.	.	P	-	1	0	PLXND1	130761266	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	3.370000	0.52372	0.509000	0.28195	-0.253000	0.11424	CCG		PASS	0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		26	95	26	95	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695765	129695765	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:129695765A>G	ENST00000302649.3	+	3	962	c.435A>G	c.(433-435)gcA>gcG	p.A145A	TRH_ENST00000507066.1_Silent_p.A141A	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	145					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.A145A(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGCTTGCATATGCTGTCC	0.612																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(433-435)GCA>GCG		thyrotropin-releasing hormone							51.0	49.0	50.0					3																	129695765		2203	4300	6503	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695765A>G		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.435A>G	3.37:g.129695765A>G							p.A145A	NM_007117	NP_009048	P20396	TRH_HUMAN			3	996	+			145					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.435A>G	CCDS3066.1																																																																																				PASS	0.612	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		7	27	7	27	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130380524	130380524	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:130380524C>T	ENST00000358511.6	+	34	5905	c.5874C>T	c.(5872-5874)ccC>ccT	p.P1958P	COL6A6_ENST00000453409.2_Silent_p.P1958P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1958	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1958P(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						CCAGACCACCCCCTGTGCAGT	0.468																																						uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(5872-5874)CCC>CCT		collagen type VI alpha 6 precursor							63.0	59.0	60.0					3																	130380524		1955	4150	6105	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130380524C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5874C>T	3.37:g.130380524C>T						COL6A6_uc003eni.3_Silent_p.P57P	p.P1958P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			34	5905	+			1958			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.5874C>T	CCDS46911.1																																																																																				PASS	0.468	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		20	36	20	36	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130674959	130674959	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:130674959C>T	ENST00000510168.1	+	11	1318	c.768C>T	c.(766-768)acC>acT	p.T256T	ATP2C1_ENST00000328560.8_Silent_p.T256T|ATP2C1_ENST00000505330.1_Silent_p.T240T|ATP2C1_ENST00000393221.4_Silent_p.T290T|ATP2C1_ENST00000508532.1_Silent_p.T256T|ATP2C1_ENST00000504948.1_Silent_p.T240T|ATP2C1_ENST00000507488.2_Silent_p.T240T|ATP2C1_ENST00000422190.2_Silent_p.T256T|ATP2C1_ENST00000513801.1_Silent_p.T240T|ATP2C1_ENST00000533801.2_Silent_p.T251T|ATP2C1_ENST00000504381.1_Silent_p.T201T|ATP2C1_ENST00000428331.2_Silent_p.T256T|ATP2C1_ENST00000359644.3_Silent_p.T256T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	256					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T256T(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CACCAAAAACCCCTCTGCAGA	0.373									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(766-768)ACC>ACT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						94.0	88.0	90.0					3																	130674959		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130674959C>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.768C>T	3.37:g.130674959C>T						ATP2C1_uc011blg.1_Silent_p.T290T|ATP2C1_uc011blh.1_Silent_p.T251T|ATP2C1_uc011bli.1_Silent_p.T290T|ATP2C1_uc003enk.2_Silent_p.T240T|ATP2C1_uc003enm.2_Silent_p.T256T|ATP2C1_uc003enn.2_Silent_p.T240T|ATP2C1_uc003eno.2_Silent_p.T256T|ATP2C1_uc003enp.2_Silent_p.T256T|ATP2C1_uc003enq.2_Silent_p.T256T|ATP2C1_uc003enr.2_Silent_p.T256T|ATP2C1_uc003ens.2_Silent_p.T256T|ATP2C1_uc003ent.2_Silent_p.T256T	p.T256T	NM_014382	NP_055197	P98194	AT2C1_HUMAN			11	990	+			256			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.768C>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	8.817	0.936589	0.18206	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.88	-6.95	0.01628	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40739	-0.9547	4	.	.	.	.	1.5265	0.02526	0.1949:0.1749:0.1582:0.472	.	.	.	.	L	210	.	.	P	+	2	0	ATP2C1	132157649	0.750000	0.28316	0.839000	0.33178	0.956000	0.61745	-0.108000	0.10857	-1.116000	0.02969	-0.345000	0.07892	CCC		PASS	0.373	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		16	58	16	58	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098693	133098693	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:133098693C>T	ENST00000321871.6	+	4	348	c.138C>T	c.(136-138)ccC>ccT	p.P46P	TMEM108_ENST00000393130.3_Silent_p.P46P|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Silent_p.P46P	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	46						integral component of membrane (GO:0016021)		p.P46P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGGCACTCCCCCGGGAACCA	0.587																																						uc003eph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(136-138)CCC>CCT		transmembrane protein 108 precursor							173.0	183.0	180.0					3																	133098693		2203	4300	6503	SO:0001819	synonymous_variant	66000					integral to membrane		g.chr3:133098693C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.138C>T	3.37:g.133098693C>T						TMEM108_uc003epi.2_Silent_p.P46P|TMEM108_uc003epj.1_Silent_p.P46P|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR	p.P46P	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	412	+			46			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	ENST00000321871.6	37	c.138C>T	CCDS33858.1																																																																																				PASS	0.587	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		84	153	84	153	---	---	---	---
TF	7018	broad.mit.edu	37	3	133496008	133496008	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:133496008G>A	ENST00000402696.3	+	16	2473	c.1988G>A	c.(1987-1989)aGa>aAa	p.R663K	TF_ENST00000264998.3_Missense_Mutation_p.R536K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	663	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.R663K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CTTCATGACAGAAACACATAT	0.438																																						uc003epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1987-1989)AGA>AAA		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						87.0	81.0	83.0					3																	133496008		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133496008G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1988G>A	3.37:g.133496008G>A	ENSP00000385834:p.Arg663Lys					TF_uc011blt.1_Missense_Mutation_p.R536K|TF_uc003epw.1_Missense_Mutation_p.R102K|TF_uc003epv.1_Missense_Mutation_p.R663K	p.R663K	NM_001063	NP_001054	P02787	TRFE_HUMAN			21	3716	+			663			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1988G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	1.140	-0.649837	0.03506	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.05855	3.38;3.38	5.2	-10.4	0.00318	.	1.603080	0.02622	N	0.103342	T	0.01695	0.0054	N	0.01009	-1.055	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31024	-0.9958	10	0.02654	T	1	2.8311	10.4809	0.44693	0.2168:0.2876:0.4956:0.0	.	389;663	B4DHZ6;P02787	.;TRFE_HUMAN	K	663;536	ENSP00000385834:R663K;ENSP00000264998:R536K	ENSP00000264998:R536K	R	+	2	0	TF	134978698	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.592000	0.02098	-3.306000	0.00191	-0.424000	0.05967	AGA		PASS	0.438	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		15	30	15	30	---	---	---	---
C3orf36	80111	broad.mit.edu	37	3	133647202	133647202	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:133647202T>G	ENST00000408895.2	-	1	1454	c.446A>C	c.(445-447)aAa>aCa	p.K149T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	149								p.K149T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GACTCTCAGTTTCACCCTTGG	0.552																																						uc003epz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)AAA>ACA		hypothetical protein LOC80111							56.0	63.0	61.0					3																	133647202		2203	4300	6503	SO:0001583	missense	80111							g.chr3:133647202T>G	AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.446A>C	3.37:g.133647202T>G	ENSP00000386219:p.Lys149Thr						p.K149T	NM_025041	NP_079317	Q3SXR2	CC036_HUMAN			1	1455	-			149					Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	c.446A>C	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170968	0.21621	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.49	-0.194	0.13240	.	.	.	.	.	T	0.21590	0.0520	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.41236	0.351	T	0.28902	-1.0029	8	0.87932	D	0	.	6.6062	0.22726	0.0:0.0:0.5087:0.4913	.	149	Q3SXR2	CC036_HUMAN	T	149	.	ENSP00000386219:K149T	K	-	2	0	C3orf36	135129892	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.173000	0.16724	-0.041000	0.13558	0.379000	0.24179	AAA		PASS	0.552	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041		19	48	19	48	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137484073	137484073	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:137484073C>T	ENST00000306087.1	+	1	495	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	149					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I149I(1)		large_intestine(2)|lung(12)	14						CGAGCGCCATCCAGAAGATGG	0.701																																						uc003erm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)ATC>ATT		SRY-box 14							14.0	15.0	14.0					3																	137484073		2195	4287	6482	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484073C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.447C>T	3.37:g.137484073C>T							p.I149I	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	495	+			149					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.447C>T	CCDS3094.1																																																																																				PASS	0.701	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		5	6	5	6	---	---	---	---
ESYT3	83850	broad.mit.edu	37	3	138178092	138178092	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:138178092C>T	ENST00000389567.4	+	5	831	c.645C>T	c.(643-645)atC>atT	p.I215I	ESYT3_ENST00000289135.4_Silent_p.I215I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	215	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.I215I(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAACGGGATCCAGGTGGGTG	0.622																																						uc003esk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(643-645)ATC>ATT		family with sequence similarity 62 (C2 domain							117.0	116.0	117.0					3																	138178092		2203	4300	6503	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138178092C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.645C>T	3.37:g.138178092C>T						ESYT3_uc010hug.2_RNA	p.I215I	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			5	871	+			215					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.645C>T	CCDS3101.2																																																																																				PASS	0.622	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		32	58	32	58	---	---	---	---
FOXL2NB	401089	broad.mit.edu	37	3	138669273	138669273	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:138669273C>T	ENST00000383165.3	+	3	518	c.387C>T	c.(385-387)tcC>tcT	p.S129S		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		129								p.S129S(1)		large_intestine(1)|lung(3)	4						TTCCGCTGTCCCCTTTCCTAG	0.667																																						uc003esx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)TCC>TCT		chromosome 3 open reading frame 72							23.0	28.0	26.0					3																	138669273		1853	4083	5936	SO:0001819	synonymous_variant	401089							g.chr3:138669273C>T																												ENST00000383165.3:c.387C>T	3.37:g.138669273C>T						C3orf72_uc011bmr.1_3'UTR	p.S129S	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			3	518	+			129					A6NGX0	Silent	SNP	ENST00000383165.3	37	c.387C>T	CCDS43155.1																																																																																				PASS	0.667	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1			14	16	14	16	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739123	138739123	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:138739123G>A	ENST00000329447.5	-	1	645	c.381C>T	c.(379-381)ttC>ttT	p.F127F	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	127								p.F127F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGCGCCCAGGAAAACGTCCA	0.642																																						uc003esy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(379-381)TTC>TTT		proline rich 23B							50.0	53.0	52.0					3																	138739123		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138739123G>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.381C>T	3.37:g.138739123G>A							p.F127F	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	646	-			127					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.381C>T	CCDS33868.1																																																																																				PASS	0.642	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		23	33	23	33	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141331133	141331133	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:141331133C>T	ENST00000452898.1	+	24	2566	c.2531C>T	c.(2530-2532)cCa>cTa	p.P844L	RASA2_ENST00000286364.3_Missense_Mutation_p.P843L	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	844					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.P843L(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGGGAAAATCCAATTGTTGGG	0.259																																						uc003etz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(2527-2529)CCA>CTA		RAS p21 protein activator 2							31.0	34.0	33.0					3																	141331133		2172	4288	6460	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141331133C>T	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2531C>T	3.37:g.141331133C>T	ENSP00000391677:p.Pro844Leu					RASA2_uc010huq.1_Missense_Mutation_p.P847L|RASA2_uc003eua.1_Missense_Mutation_p.P844L|uc003eub.2_5'Flank	p.P843L	NM_006506	NP_006497	Q15283	RASA2_HUMAN			24	2528	+			843					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.2528C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.227104	0.79576	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	D;D	0.86097	-2.02;-2.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	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	D	0.91770	0.5427	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	844;844;843	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	L	843;844	ENSP00000286364:P843L;ENSP00000391677:P844L	ENSP00000286364:P843L	P	+	2	0	RASA2	142813823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.699000	0.68310	2.824000	0.97209	0.655000	0.94253	CCA		PASS	0.259	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		6	20	6	20	---	---	---	---
ATR	545	broad.mit.edu	37	3	142272709	142272709	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:142272709G>A	ENST00000350721.4	-	11	2611	c.2490C>T	c.(2488-2490)caC>caT	p.H830H	ATR_ENST00000383101.3_Silent_p.H766H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	830					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H830H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTCCAATATGTGCTTGATAT	0.313								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2488-2490)CAC>CAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							74.0	75.0	75.0					3																	142272709		2202	4298	6500	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142272709G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2490C>T	3.37:g.142272709G>A							p.H830H	NM_001184	NP_001175	Q13535	ATR_HUMAN			11	2612	-			830			HEAT 1.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.2490C>T	CCDS3124.1																																																																																				PASS	0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		18	29	18	29	---	---	---	---
ATR	545	broad.mit.edu	37	3	142272711	142272711	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:142272711G>T	ENST00000350721.4	-	11	2609	c.2488C>A	c.(2488-2490)Cac>Aac	p.H830N	ATR_ENST00000383101.3_Missense_Mutation_p.H766N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	830					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H830N(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCCAATATGTGCTTGATATTT	0.313								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2488-2490)CAC>AAC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							74.0	75.0	75.0					3																	142272711		2202	4298	6500	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142272711G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2488C>A	3.37:g.142272711G>T	ENSP00000343741:p.His830Asn						p.H830N	NM_001184	NP_001175	Q13535	ATR_HUMAN			11	2610	-			830			HEAT 1.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2488C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867035	0.17250	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.62788	-0.0;-0.0	5.34	1.16	0.20824	Armadillo-like helical (1);Armadillo-type fold (1);	0.339269	0.32041	N	0.006664	T	0.35451	0.0932	N	0.12182	0.205	0.21527	N	0.999651	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.27082	T	0.32	-8.7206	4.998	0.14249	0.4802:0.0:0.3713:0.1485	.	830	Q13535	ATR_HUMAN	N	830;766	ENSP00000343741:H830N;ENSP00000372581:H766N	ENSP00000343741:H830N	H	-	1	0	ATR	143755401	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.732000	0.26072	0.308000	0.22923	0.585000	0.79938	CAC		PASS	0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		17	29	17	29	---	---	---	---
ATR	545	broad.mit.edu	37	3	142281929	142281929	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:142281929C>A	ENST00000350721.4	-	4	436	c.315G>T	c.(313-315)acG>acT	p.T105T	ATR_ENST00000383101.3_Silent_p.T105T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	105					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T105T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCAGAAGTCTCGTTATGATCC	0.318								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(313-315)ACG>ACT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							84.0	94.0	91.0					3																	142281929		2123	4270	6393	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281929C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.315G>T	3.37:g.142281929C>A							p.T105T	NM_001184	NP_001175	Q13535	ATR_HUMAN			4	437	-			105					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.315G>T	CCDS3124.1																																																																																				PASS	0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		4	139	4	139	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146246546	146246546	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:146246546G>A	ENST00000342435.4	-	4	577	c.167C>T	c.(166-168)cCt>cTt	p.P56L	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.P49L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	56	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)	p.P56L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						AGCTGGGCCAGGACCTGAATG	0.547																																						uc003evx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(166-168)CCT>CTT		phospholipid scramblase 1							46.0	53.0	51.0					3																	146246546		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246546G>A	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.167C>T	3.37:g.146246546G>A	ENSP00000345494:p.Pro56Leu					PLSCR1_uc003evy.3_Missense_Mutation_p.P49L|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Missense_Mutation_p.P56L	p.P56L	NM_021105	NP_066928	O15162	PLS1_HUMAN			4	555	-			56			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.167C>T	CCDS3135.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677221	0.68042	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T;T;T	0.26660	2.07;2.1;1.95;1.72	4.36	3.44	0.39384	.	.	.	.	.	T	0.22898	0.0553	L	0.54323	1.7	0.30070	N	0.810111	B;B	0.32160	0.358;0.08	B;B	0.25140	0.058;0.018	T	0.10520	-1.0626	9	0.45353	T	0.12	.	10.1505	0.42791	0.0:0.1591:0.6972:0.1438	.	56;56	Q8WVK1;O15162	.;PLS1_HUMAN	L	56;49;56;56	ENSP00000345494:P56L;ENSP00000417792:P49L;ENSP00000418103:P56L;ENSP00000420523:P56L	ENSP00000345494:P56L	P	-	2	0	PLSCR1	147729236	0.002000	0.14202	0.286000	0.24833	0.397000	0.30659	-0.037000	0.12164	0.889000	0.36185	0.484000	0.47621	CCT		PASS	0.547	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		23	24	23	24	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149192700	149192700	+	Silent	SNP	G	G	A	rs370651189		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:149192700G>A	ENST00000305354.4	+	1	940	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	12					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.G12G(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCTGGGGGGGACCCTCATTC	0.527																																						uc003exd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)GGG>GGA		transmembrane 4 superfamily member 4							70.0	73.0	72.0					3																	149192700		1918	4114	6032	SO:0001819	synonymous_variant	7104					integral to membrane		g.chr3:149192700G>A		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.36G>A	3.37:g.149192700G>A							p.G12G	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		1	267	+			12			Helical; (Potential).		B2RDA4	Silent	SNP	ENST00000305354.4	37	c.36G>A	CCDS46932.1																																																																																				PASS	0.527	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1			13	33	13	33	---	---	---	---
TM4SF4	7104	broad.mit.edu	37	3	149216509	149216509	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:149216509G>A	ENST00000305354.4	+	4	1306	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	134					tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)		p.G134G(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCAACAGGGATTATCTCA	0.448																																						uc003exd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(400-402)GGG>GGA		transmembrane 4 superfamily member 4							70.0	70.0	70.0					3																	149216509		1896	4117	6013	SO:0001630	splice_region_variant	7104					integral to membrane		g.chr3:149216509G>A		CCDS46932.1	3q25	2005-03-21	2005-03-21		ENSG00000169903	ENSG00000169903			11856	protein-coding gene	gene with protein product		606567	"""transmembrane 4 superfamily member 4"""			7665614	Standard	NM_004617		Approved	il-TMP	uc003exd.2	P48230	OTTHUMG00000159619	ENST00000305354.4:c.402-1G>A	3.37:g.149216509G>A							p.G134G	NM_004617	NP_004608	P48230	T4S4_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	633	+			134			Extracellular (Potential).		B2RDA4	Silent	SNP	ENST00000305354.4	37	c.402G>A	CCDS46932.1																																																																																				PASS	0.448	TM4SF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356528.1		Silent	10	37	10	37	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150421547	150421547	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:150421547C>T	ENST00000295910.6	-	1	191	c.139G>A	c.(139-141)Gag>Aag	p.E47K	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2												p.E47K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctccacctcttcctcctcc	0.602																																						uc003eyg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(139-141)GAG>AAG		hypothetical protein LOC131831							123.0	108.0	113.0					3																	150421547		2202	4300	6502	SO:0001583	missense	131831							g.chr3:150421547C>T																												ENST00000295910.6:c.139G>A	3.37:g.150421547C>T	ENSP00000295910:p.Glu47Lys					FAM194A_uc003eyh.2_Intron	p.E47K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			1	196	-			47			Glu-rich.			Missense_Mutation	SNP	ENST00000295910.6	37	c.139G>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	c	7.965	0.747819	0.15710	.	.	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.52526	2.75;0.66	0.443	0.443	0.16587	.	1.599240	0.04226	N	0.334371	T	0.41650	0.1168	N	0.08118	0	0.19300	N	0.999979	P	0.49696	0.927	P	0.56563	0.801	T	0.44651	-0.9314	9	0.35671	T	0.21	-0.4041	.	.	.	.	47	Q7L0X2	F194A_HUMAN	K	47	ENSP00000295910:E47K;ENSP00000419304:E47K	ENSP00000295910:E47K	E	-	1	0	FAM194A	151904237	0.000000	0.05858	0.026000	0.17262	0.027000	0.11550	-0.152000	0.10159	0.531000	0.28639	0.536000	0.68110	GAG		PASS	0.602	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			3	13	3	13	---	---	---	---
CLRN1	7401	broad.mit.edu	37	3	150645901	150645901	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:150645901C>T	ENST00000327047.1	-	3	811	c.521G>A	c.(520-522)gGg>gAg	p.G174E	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.G98E|CLRN1_ENST00000328863.4_Missense_Mutation_p.G187E|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	174					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.G174E(2)|p.G98E(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GACATAAGTCCCTTCTTTATA	0.373																																						uc003eyk.1																			3	Substitution - Missense(3)		lung(2)|skin(1)		0						c.(520-522)GGG>GAG		clarin 1 isoform a							63.0	67.0	66.0					3																	150645901		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150645901C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.521G>A	3.37:g.150645901C>T	ENSP00000322280:p.Gly174Glu					CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.G98E|CLRN1_uc010hvj.1_RNA	p.G174E	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	812	-			174					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.521G>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337336	0.41398	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836	T;T;T;T	0.75260	-0.92;-0.18;-0.92;-0.92	5.76	4.89	0.63831	.	0.335925	0.33419	N	0.004925	T	0.77123	0.4084	L	0.57536	1.79	0.39994	D	0.975071	P;D	0.59767	0.938;0.986	P;P	0.52031	0.688;0.641	T	0.78425	-0.2209	10	0.46703	T	0.11	-12.672	12.1576	0.54085	0.0:0.8128:0.1213:0.0659	.	174;98	P58418;P58418-1	CLRN1_HUMAN;.	E	98;174;187;98	ENSP00000295911:G98E;ENSP00000322280:G174E;ENSP00000329158:G187E;ENSP00000419892:G98E	ENSP00000295911:G98E	G	-	2	0	CLRN1	152128591	0.994000	0.37717	1.000000	0.80357	0.931000	0.56810	1.835000	0.39181	1.441000	0.47550	-0.122000	0.15005	GGG		PASS	0.373	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			13	45	13	45	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151086016	151086016	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:151086016C>T	ENST00000474524.1	+	23	3460	c.3422C>T	c.(3421-3423)gCc>gTc	p.A1141V	MED12L_ENST00000273432.4_Missense_Mutation_p.A1001V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1141						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A1141V(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)			GCTCCCCAGGCCTGCTTCTTA	0.507																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3421-3423)GCC>GTC		mediator of RNA polymerase II transcription,							58.0	57.0	57.0					3																	151086016		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151086016C>T	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.3422C>T	3.37:g.151086016C>T	ENSP00000417235:p.Ala1141Val					MED12L_uc011bnz.1_Missense_Mutation_p.A1001V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A304V	p.A1141V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		23	3460	+			1141					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3422C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034640	0.35893	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.30182	1.54;1.54	5.61	4.51	0.55191	.	0.181907	0.50627	D	0.000103	T	0.09905	0.0243	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.30563	-0.9974	10	0.05436	T	0.98	-21.2112	5.2441	0.15487	0.0:0.7895:0.0:0.2105	.	1001;1140;1141	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1141;1001	ENSP00000417235:A1141V;ENSP00000273432:A1001V	ENSP00000273432:A1001V	A	+	2	0	MED12L	152568706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.573000	0.46007	2.793000	0.96121	0.655000	0.94253	GCC		PASS	0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	27	4	27	---	---	---	---
MME	4311	broad.mit.edu	37	3	154878200	154878200	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:154878200A>G	ENST00000460393.1	+	17	1743	c.1623A>G	c.(1621-1623)gtA>gtG	p.V541V	MME_ENST00000492661.1_Silent_p.V541V|MME_ENST00000493237.1_Silent_p.V541V|MME_ENST00000462745.1_Silent_p.V541V|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Silent_p.V541V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	541					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V541V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GAGCAGCTGTAGTCAATGCAT	0.333																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1621-1623)GTA>GTG		membrane metallo-endopeptidase	Candoxatril(DB00616)						207.0	222.0	217.0					3																	154878200		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154878200A>G		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1623A>G	3.37:g.154878200A>G						MME_uc003fab.1_Silent_p.V541V|MME_uc003fac.1_Silent_p.V541V|MME_uc003fad.1_Silent_p.V541V|MME_uc003fae.1_Silent_p.V541V	p.V541V	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		17	1834	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	541			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.1623A>G	CCDS3172.1																																																																																				PASS	0.333	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		75	78	75	78	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155199797	155199797	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:155199797G>A	ENST00000340059.7	-	23	4041	c.4042C>T	c.(4042-4044)Ccc>Tcc	p.P1348S	PLCH1_ENST00000334686.6_Missense_Mutation_p.P1310S|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1310S|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.P1310S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1348					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.P1310S(2)|p.P1348S(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAGAGTGGGATCAGCTATT	0.473																																						uc011bok.1																			4	Substitution - Missense(4)		lung(2)|kidney(2)	skin(3)|ovary(1)	4						c.(4042-4044)CCC>TCC		phospholipase C eta 1 isoform a							46.0	50.0	48.0					3																	155199797		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199797G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4042C>T	3.37:g.155199797G>A	ENSP00000345988:p.Pro1348Ser					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.P1310S	p.P1348S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4319	-			1348					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4042C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889676	0.33348	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.31	3.45	0.39498	.	1.101940	0.06875	N	0.801440	T	0.68586	0.3017	L	0.27053	0.805	0.09310	N	1	B;B	0.13594	0.006;0.008	B;B	0.09377	0.004;0.002	T	0.56360	-0.7992	10	0.52906	T	0.07	.	10.6105	0.45419	0.0:0.2715:0.5878:0.1407	.	1310;1348	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	S	1310;1348;1310;1310	ENSP00000417502:P1310S;ENSP00000345988:P1348S;ENSP00000335469:P1310S;ENSP00000412977:P1310S	ENSP00000335469:P1310S	P	-	1	0	PLCH1	156682491	0.389000	0.25205	0.002000	0.10522	0.644000	0.38419	1.882000	0.39648	0.565000	0.29255	0.460000	0.39030	CCC		PASS	0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		9	21	9	21	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200114	155200114	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:155200114A>T	ENST00000340059.7	-	23	3724	c.3725T>A	c.(3724-3726)tTt>tAt	p.F1242Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.F1204Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.F1204Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.F1204Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1242					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.F1242Y(1)|p.F1204Y(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCTTGCAAAAACCATGCTT	0.473																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3724-3726)TTT>TAT		phospholipase C eta 1 isoform a							83.0	78.0	80.0					3																	155200114		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200114A>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3725T>A	3.37:g.155200114A>T	ENSP00000345988:p.Phe1242Tyr					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.F1204Y	p.F1242Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4002	-			1242					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3725T>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650293	0.47362	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.22336	1.96;1.97;1.96;1.96	5.19	4.02	0.46733	.	2.614030	0.01492	N	0.017121	T	0.26666	0.0652	L	0.32530	0.975	0.09310	N	1	B;B	0.29766	0.256;0.167	B;B	0.37239	0.244;0.123	T	0.41610	-0.9499	10	0.72032	D	0.01	.	10.9333	0.47230	0.9258:0.0:0.0742:0.0	.	1204;1242	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1204;1242;1204;1204	ENSP00000417502:F1204Y;ENSP00000345988:F1242Y;ENSP00000335469:F1204Y;ENSP00000412977:F1204Y	ENSP00000335469:F1204Y	F	-	2	0	PLCH1	156682808	0.074000	0.21230	0.003000	0.11579	0.082000	0.17680	2.898000	0.48672	0.810000	0.34279	0.377000	0.23210	TTT		PASS	0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		26	34	26	34	---	---	---	---
B3GALNT1	8706	broad.mit.edu	37	3	160804255	160804255	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:160804255G>A	ENST00000392781.2	-	8	1035	c.288C>T	c.(286-288)gcC>gcT	p.A96A	B3GALNT1_ENST00000320474.4_Silent_p.A96A|B3GALNT1_ENST00000473285.1_Silent_p.A96A|B3GALNT1_ENST00000392779.2_Silent_p.A96A|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392780.1_Silent_p.A96A|B3GALNT1_ENST00000488170.1_Silent_p.A96A	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	96					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A96A(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TAACTCTAATGGCCTGCCTGG	0.433																																						uc003fdv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(286-288)GCC>GCT		UDP-Gal:betaGlcNAc beta							82.0	87.0	85.0					3																	160804255		2203	4300	6503	SO:0001819	synonymous_variant	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804255G>A	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.288C>T	3.37:g.160804255G>A						B3GALNT1_uc003fdw.2_Silent_p.A96A|B3GALNT1_uc003fdx.2_Silent_p.A96A|B3GALNT1_uc003fdy.2_Silent_p.A96A|B3GALNT1_uc003fdz.2_Silent_p.A96A|B3GALNT1_uc003fea.2_Silent_p.A96A|B3GALNT1_uc011bpa.1_Intron	p.A96A	NM_033169	NP_149359	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		5	707	-			96			Lumenal (Potential).		D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	ENST00000392781.2	37	c.288C>T	CCDS3193.1																																																																																				PASS	0.433	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		38	47	38	47	---	---	---	---
NMD3	51068	broad.mit.edu	37	3	160942831	160942831	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:160942831C>T	ENST00000460469.1	+	2	613	c.158C>T	c.(157-159)tCg>tTg	p.S53L	NMD3_ENST00000472947.1_Missense_Mutation_p.S53L|NMD3_ENST00000351193.2_Missense_Mutation_p.S53L|NMD3_ENST00000478160.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	53					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.S53L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTCTCGATTTCGTTCTGCAAA	0.408																																						uc003feb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)TCG>TTG		NMD3 homolog							192.0	183.0	186.0					3																	160942831		2203	4300	6503	SO:0001583	missense	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160942831C>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.158C>T	3.37:g.160942831C>T	ENSP00000419004:p.Ser53Leu					NMD3_uc003fec.2_Missense_Mutation_p.S53L|NMD3_uc003fed.1_Missense_Mutation_p.S53L	p.S53L	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		3	277	+			53					D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	c.158C>T	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735442	0.30774	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.42900	0.99;0.99;0.97;0.96;0.96;0.97;0.99;0.96	6.07	5.13	0.70059	.	0.268306	0.40908	D	0.000998	T	0.20210	0.0486	N	0.10733	0.035	0.36532	D	0.870796	B;B	0.11235	0.001;0.004	B;B	0.09377	0.004;0.003	T	0.21177	-1.0253	10	0.17832	T	0.49	-38.5165	8.4233	0.32714	0.349:0.5335:0.1175:0.0	.	53;53	C9JA08;Q96D46	.;NMD3_HUMAN	L	53	ENSP00000418852:S53L;ENSP00000418980:S53L;ENSP00000419030:S53L;ENSP00000307525:S53L;ENSP00000417559:S53L;ENSP00000418908:S53L;ENSP00000419647:S53L;ENSP00000419004:S53L	ENSP00000307525:S53L	S	+	2	0	NMD3	162425525	1.000000	0.71417	0.998000	0.56505	0.675000	0.39556	3.930000	0.56522	2.885000	0.99019	0.655000	0.94253	TCG		PASS	0.408	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		36	57	36	57	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161214691	161214691	+	Silent	SNP	G	G	A	rs376103439		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:161214691G>A	ENST00000327928.4	+	1	96	c.96G>A	c.(94-96)acG>acA	p.T32T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	32						collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.T32T(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CCAAATTTACGAAGAAATCTG	0.408																																						uc011bpb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)ACG>ACA		otolin-1 precursor		G		0,3702		0,0,1851	58.0	56.0	56.0		96	0.4	1.0	3		56	1,8183		0,1,4091	no	coding-synonymous	OTOL1	NM_001080440.1		0,1,5942	AA,AG,GG		0.0122,0.0,0.0084		32/478	161214691	1,11885	1851	4092	5943	SO:0001819	synonymous_variant	131149					collagen		g.chr3:161214691G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.96G>A	3.37:g.161214691G>A							p.T32T	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			1	96	+			32						Silent	SNP	ENST00000327928.4	37	c.96G>A	CCDS46948.1																																																																																				PASS	0.408	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		23	40	23	40	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161220930	161220930	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:161220930G>A	ENST00000327928.4	+	4	634	c.634G>A	c.(634-636)Ggg>Agg	p.G212R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	212	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G212R(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGAGACCAAGGGGCTATGGG	0.567																																						uc011bpb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GGG>AGG		otolin-1 precursor							6.0	6.0	6.0					3																	161220930		1830	3984	5814	SO:0001583	missense	131149					collagen		g.chr3:161220930G>A		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.634G>A	3.37:g.161220930G>A	ENSP00000330808:p.Gly212Arg						p.G212R	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	634	+			212			Collagen-like 2.			Missense_Mutation	SNP	ENST00000327928.4	37	c.634G>A	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005814	0.54254	.	.	ENSG00000182447	ENST00000327928	D	0.99637	-6.29	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.99757	0.9902	H	0.95780	3.72	0.52501	D	0.999952	D	0.89917	1.0	D	0.91635	0.999	D	0.97122	0.9812	10	0.87932	D	0	.	17.137	0.86743	0.0:0.0:1.0:0.0	.	212	A6NHN0	OTOL1_HUMAN	R	212	ENSP00000330808:G212R	ENSP00000330808:G212R	G	+	1	0	OTOL1	162703624	1.000000	0.71417	0.064000	0.19789	0.079000	0.17450	9.108000	0.94275	2.367000	0.80283	0.557000	0.71058	GGG		PASS	0.567	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		7	7	7	7	---	---	---	---
SI	6476	broad.mit.edu	37	3	164716433	164716433	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:164716433C>T	ENST00000264382.3	-	38	4497	c.4435G>A	c.(4435-4437)Ggg>Agg	p.G1479R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1479	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G1479R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATTACAATCCCTCTTTTTCCA	0.388										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4435-4437)GGG>AGG		sucrase-isomaltase	Acarbose(DB00284)						187.0	166.0	173.0					3																	164716433		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164716433C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4435G>A	3.37:g.164716433C>T	ENSP00000264382:p.Gly1479Arg	HNSCC(35;0.089)					p.G1479R	NM_001041	NP_001032	P14410	SUIS_HUMAN			38	4497	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1479			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4435G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612328	0.87258	.	.	ENSG00000090402	ENST00000264382	D	0.93189	-3.18	4.76	4.76	0.60689	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96842	0.8969	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97264	0.9906	10	0.72032	D	0.01	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	1479	P14410	SUIS_HUMAN	R	1479	ENSP00000264382:G1479R	ENSP00000264382:G1479R	G	-	1	0	SI	166199127	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.548000	0.67255	2.631000	0.89168	0.650000	0.86243	GGG		PASS	0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		21	45	21	45	---	---	---	---
SI	6476	broad.mit.edu	37	3	164764709	164764709	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:164764709C>T	ENST00000264382.3	-	16	1869	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	603	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G603R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTATTGTCTCCTAACCAATGC	0.388										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1807-1809)GGA>AGA		sucrase-isomaltase	Acarbose(DB00284)						98.0	95.0	96.0					3																	164764709		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164764709C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1807G>A	3.37:g.164764709C>T	ENSP00000264382:p.Gly603Arg	HNSCC(35;0.089)					p.G603R	NM_001041	NP_001032	P14410	SUIS_HUMAN			16	1869	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	603			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1807G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906698	0.92107	.	.	ENSG00000090402	ENST00000264382	D	0.98889	-5.21	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	.	18.0712	0.89407	0.0:1.0:0.0:0.0	.	603	P14410	SUIS_HUMAN	R	603	ENSP00000264382:G603R	ENSP00000264382:G603R	G	-	1	0	SI	166247403	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.356000	0.79445	2.519000	0.84933	0.467000	0.42956	GGA		PASS	0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		24	46	24	46	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906911	164906911	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:164906911G>A	ENST00000475390.1	-	2	2151	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	SLITRK3_ENST00000241274.3_Silent_p.L570L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	570	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L570L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGGGACCAGGTCACAGGTG	0.522										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1708-1710)CTG>TTG		slit and trk like 3 protein precursor							99.0	91.0	94.0					3																	164906911		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906911G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1708C>T	3.37:g.164906911G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.L570L	p.L570L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2152	-			570			LRRCT 2.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1708C>T	CCDS3197.1																																																																																				PASS	0.522	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		15	37	15	37	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908399	164908399	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:164908399C>T	ENST00000475390.1	-	2	663	c.220G>A	c.(220-222)Gag>Aag	p.E74K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E74K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	74					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E74K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GACCAGAACTCGGTAATCTGA	0.338										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(220-222)GAG>AAG		slit and trk like 3 protein precursor							80.0	84.0	83.0					3																	164908399		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908399C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.220G>A	3.37:g.164908399C>T	ENSP00000420091:p.Glu74Lys	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.E74K	p.E74K	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	664	-			74			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.220G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995777	0.35226	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.69175	0.66;0.66;-0.38	6.11	6.11	0.99139	.	0.000000	0.38058	N	0.001822	T	0.52273	0.1724	N	0.17631	0.505	0.45554	D	0.998507	P	0.34587	0.458	B	0.22753	0.041	T	0.50372	-0.8836	10	0.35671	T	0.21	-19.6564	20.7342	0.99715	0.0:1.0:0.0:0.0	.	74	O94933	SLIK3_HUMAN	K	74	ENSP00000420091:E74K;ENSP00000241274:E74K;ENSP00000419611:E74K	ENSP00000241274:E74K	E	-	1	0	SLITRK3	166391093	1.000000	0.71417	0.971000	0.41717	0.820000	0.46376	5.364000	0.66110	2.906000	0.99361	0.655000	0.94253	GAG		PASS	0.338	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		26	42	26	42	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172634134	172634134	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:172634134C>T	ENST00000351008.3	-	9	1659	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	492					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.Q492Q(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GACTGATGTCCTGTAGGTAGG	0.463																																						uc003fin.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1474-1476)CAG>CAA		spermatogenesis associated 16							201.0	190.0	194.0					3																	172634134		2203	4300	6503	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172634134C>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1476G>A	3.37:g.172634134C>T							p.Q492Q	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		9	1634	-	Ovarian(172;0.00319)|Breast(254;0.197)		492					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.1476G>A	CCDS3221.1																																																																																				PASS	0.463	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		76	130	76	130	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525588	173525588	+	Silent	SNP	C	C	T	rs148161018		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:173525588C>T	ENST00000457714.1	+	4	1041	c.612C>T	c.(610-612)atC>atT	p.I204I	NLGN1_ENST00000361589.4_Silent_p.I204I|NLGN1_ENST00000401917.3_Silent_p.I244I|NLGN1_ENST00000545397.1_Silent_p.I204I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	221					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.I204I(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)			GCAATGTGATCGTCATCACAG	0.403																																						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.(610-612)ATC>ATT		neuroligin 1		C		1,4405	2.1+/-5.4	0,1,2202	168.0	159.0	162.0		612	2.4	1.0	3	dbSNP_134	162	0,8600		0,0,4300	no	coding-synonymous	NLGN1	NM_014932.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		204/824	173525588	1,13005	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.chr3:173525588C>T	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.612C>T	3.37:g.173525588C>T						NLGN1_uc010hww.1_Silent_p.I244I|NLGN1_uc003fip.1_Silent_p.I204I	p.I204I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1035	+	Ovarian(172;0.0025)		221			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.612C>T	CCDS3222.1																																																																																				PASS	0.403	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		19	24	19	24	---	---	---	---
MFN1	55669	broad.mit.edu	37	3	179069770	179069770	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:179069770C>T	ENST00000471841.1	+	3	321	c.195C>T	c.(193-195)tcC>tcT	p.S65S	MFN1_ENST00000263969.5_Silent_p.S65S|MFN1_ENST00000280653.7_Silent_p.S65S	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	65					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S65S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACAAGCTTTCCATCATTGGTG	0.378																																						uc003fjs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(193-195)TCC>TCT		mitofusin 1							164.0	164.0	164.0					3																	179069770		2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069770C>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.195C>T	3.37:g.179069770C>T						MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.S93S	p.S65S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	321	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		65			Cytoplasmic (Potential).		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.195C>T	CCDS3228.1																																																																																				PASS	0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		37	99	37	99	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179537722	179537722	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:179537722C>T	ENST00000467460.1	-	9	1195	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	PEX5L_ENST00000263962.8_Missense_Mutation_p.E287K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E181K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E254K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E181K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E97K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E230K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E265K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E246K|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	289					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.E289K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGAGCCATTTCTTCCCATTCT	0.438																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(865-867)GAA>AAA		peroxisomal biogenesis factor 5-like							210.0	186.0	194.0					3																	179537722		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537722C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.865G>A	3.37:g.179537722C>T	ENSP00000419975:p.Glu289Lys					PEX5L_uc011bqd.1_Missense_Mutation_p.E246K|PEX5L_uc011bqe.1_Missense_Mutation_p.E97K|PEX5L_uc011bqf.1_Missense_Mutation_p.E181K|PEX5L_uc003fkj.1_Missense_Mutation_p.E254K|PEX5L_uc010hxd.1_Missense_Mutation_p.E287K|PEX5L_uc011bqg.1_Missense_Mutation_p.E265K|PEX5L_uc011bqh.1_Missense_Mutation_p.E230K	p.E289K	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	995	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		289					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.865G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854603	0.91355	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.4;-2.35;-2.35;-2.41;-2.42;-2.35;-2.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	L	0.28608	0.87	0.80722	D	1	D;D;B;D;D;D	0.71674	0.993;0.993;0.22;0.998;0.996;0.997	D;D;B;D;D;D	0.80764	0.971;0.956;0.109;0.994;0.99;0.985	D	0.89080	0.3475	10	0.27082	T	0.32	-24.3433	18.9841	0.92763	0.0:1.0:0.0:0.0	.	230;265;181;287;254;289	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	289;287;254;287;181;97;246;177;230;181;265	ENSP00000419975:E289K;ENSP00000263962:E287K;ENSP00000418440:E254K;ENSP00000376420:E181K;ENSP00000418665:E97K;ENSP00000420555:E246K;ENSP00000418054:E230K;ENSP00000417270:E181K;ENSP00000419348:E265K	ENSP00000263962:E287K	E	-	1	0	PEX5L	181020416	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.185000	0.77714	2.593000	0.87608	0.655000	0.94253	GAA		PASS	0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		19	53	19	53	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180359792	180359792	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:180359792C>T	ENST00000442201.2	-	13	1982	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	CCDC39_ENST00000273654.4_Silent_p.R705R	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	621					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.R705R(1)|p.R621R(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)			TTATGTTTTCCCGTTCTTGAT	0.383																																						uc010hxe.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1861-1863)CGG>CGA		coiled-coil domain containing 39							131.0	121.0	124.0					3																	180359792		1838	4094	5932	SO:0001819	synonymous_variant	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.chr3:180359792C>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.1863G>A	3.37:g.180359792C>T						CCDC39_uc003fkn.2_RNA	p.R621R	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		13	1978	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		621					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.1863G>A	CCDS46964.1																																																																																				PASS	0.383	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		19	34	19	34	---	---	---	---
KLHL6	89857	broad.mit.edu	37	3	183211925	183211925	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:183211925C>T	ENST00000341319.3	-	5	1327	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	431					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.G431D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTCTGTAAGCCGTCAAAGCC	0.458																																						uc003flr.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1291-1293)GGC>GAC		kelch-like 6							261.0	240.0	247.0					3																	183211925		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183211925C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1292G>A	3.37:g.183211925C>T	ENSP00000341342:p.Gly431Asp					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.G431D	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		5	1350	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		431			Kelch 3.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1292G>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367402	0.82463	.	.	ENSG00000172578	ENST00000341319	T	0.68765	-0.35	5.96	5.08	0.68730	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80369	0.4610	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82248	-0.0551	10	0.62326	D	0.03	.	17.1731	0.86834	0.0:0.8737:0.1263:0.0	.	431	Q8WZ60	KLHL6_HUMAN	D	431	ENSP00000341342:G431D	ENSP00000341342:G431D	G	-	2	0	KLHL6	184694619	1.000000	0.71417	0.817000	0.32601	0.639000	0.38242	7.814000	0.86154	1.494000	0.48533	0.655000	0.94253	GGC		PASS	0.458	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		38	91	38	91	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183524833	183524833	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:183524833C>T	ENST00000305135.5	+	28	4159	c.3964C>T	c.(3964-3966)Ctg>Ttg	p.L1322L	YEATS2-AS1_ENST00000609195.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609871.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1322					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.L1322L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGTTCTACCTGCCACCAAC	0.498																																						uc003fly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(3964-3966)CTG>TTG		YEATS domain containing 2							76.0	77.0	77.0					3																	183524833		1982	4167	6149	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183524833C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3964C>T	3.37:g.183524833C>T						uc003fma.1_5'Flank	p.L1322L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		28	4159	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1322					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.3964C>T	CCDS43175.1																																																																																				PASS	0.498	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		18	38	18	38	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183696426	183696426	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:183696426C>T	ENST00000334444.6	-	9	1401	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	ABCC5_ENST00000265586.6_Silent_p.E387E|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	387	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.E387E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TCCGACGCTCCTCCTCGCGGA	0.483																																						uc003fmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1159-1161)GAG>GAA		ATP-binding cassette, sub-family C, member 5							74.0	84.0	81.0					3																	183696426		1969	4167	6136	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183696426C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1161G>A	3.37:g.183696426C>T						ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Silent_p.E387E	p.E387E	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1326	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		387			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.1161G>A	CCDS43176.1																																																																																				PASS	0.483	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		15	29	15	29	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183700297	183700298	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:183700297_183700298AT>TA	ENST00000334444.6	-	7	1180_1181	c.940_941AT>TA	c.(940-942)ATt>TAt	p.I314Y	ABCC5_ENST00000265586.6_Missense_Mutation_p.I314Y|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	314	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.I314N(1)|p.I314Y(1)|p.I314F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGTCCCAGAATAATTACATTA	0.505																																						uc003fmg.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(940-942)ATT>AAT|c.(940-942)ATT>TTT		ATP-binding cassette, sub-family C, member 5																																				SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700297A>T|g.chr3:183700298T>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.940_941delinsTA	3.37:g.183700297_183700298delinsTA	ENSP00000333926:p.Ile314Tyr					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.I314N|ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.I314F	p.I314N|p.I314F	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1106|1105	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		314			ABC transmembrane type-1 1.|Helical; (Potential).		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.941T>A|c.940A>T	CCDS43176.1																																																																																				PASS	0.505	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		14|15	38|37	14	37	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184008959	184008959	+	Missense_Mutation	SNP	G	G	A	rs138732933	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:184008959G>A	ENST00000402825.3	+	17	2320	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	ECE2_ENST00000359140.4_Missense_Mutation_p.G627S|ECE2_ENST00000357474.5_Missense_Mutation_p.G702S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.G656S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	774	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.G627S(1)|p.G702S(1)|p.G774S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGCTCAACGGCCGCCAGAC	0.622																																						uc003fni.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)	4						c.(2320-2322)GGC>AGC		endothelin converting enzyme 2 isoform A		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	52.0	57.0	55.0		1879,2104,1966,2320	4.9	1.0	3	dbSNP_134	55	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense,missense	ECE2	NM_001037324.2,NM_001100120.1,NM_001100121.1,NM_014693.3	56,56,56,56	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,probably-damaging	627/737,702/812,656/766,774/884	184008959	6,13000	2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008959G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2320G>A	3.37:g.184008959G>A	ENSP00000384223:p.Gly774Ser					ECE2_uc011brh.1_Missense_Mutation_p.G627S|ECE2_uc003fnl.3_Missense_Mutation_p.G702S|ECE2_uc003fnm.3_Missense_Mutation_p.G656S|ECE2_uc003fnk.3_Missense_Mutation_p.G627S|ECE2_uc011bri.1_Missense_Mutation_p.G689S|ECE2_uc010hxv.2_3'UTR	p.G774S	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2358	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		774			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2320G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	32	5.171437	0.94807	0.0	6.98E-4	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	4.94	4.94	0.65067	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94817	0.8326	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0	D	0.95956	0.8958	10	0.87932	D	0	-20.6153	16.7542	0.85495	0.0:0.0:1.0:0.0	.	376;627;656;702;627;774	B4DHU4;B4DKF3;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	S	774;627;656;702;648	ENSP00000384223:G774S;ENSP00000352052:G627S;ENSP00000385846:G656S;ENSP00000350066:G702S;ENSP00000398444:G648S	ENSP00000350066:G702S	G	+	1	0	ECE2	185491653	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.286000	0.76751	0.561000	0.74099	GGC		PASS	0.622	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		12	40	12	40	---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184059850	184059850	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:184059850C>T	ENST00000310585.4	+	1	1593	c.229C>T	c.(229-231)Cca>Tca	p.P77S	FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	77						extracellular region (GO:0005576)		p.P77S(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTATCTCCAGGTATTTC	0.597																																						uc003fog.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	breast(1)	1						c.(229-231)CCA>TCA		hypothetical protein LOC131408 precursor							198.0	181.0	187.0					3																	184059850		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184059850C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.229C>T	3.37:g.184059850C>T	ENSP00000310135:p.Pro77Ser					FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	p.P77S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	1593	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		77					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.229C>T		.	.	.	.	.	.	.	.	.	.	c	10.65	1.409136	0.25378	.	.	ENSG00000175182	ENST00000310585	T	0.20598	2.06	5.31	-1.34	0.09143	.	.	.	.	.	T	0.07143	0.0181	.	.	.	0.09310	N	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.40175	-0.9577	8	0.08381	T	0.77	.	3.3353	0.07098	0.103:0.3921:0.3034:0.2015	.	77	Q6UXB0	F131A_HUMAN	S	77	ENSP00000310135:P77S	ENSP00000310135:P77S	P	+	1	0	FAM131A	185542544	0.000000	0.05858	0.020000	0.16555	0.140000	0.21249	-1.557000	0.02166	-0.021000	0.14009	0.591000	0.81541	CCA		PASS	0.597	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		64	101	64	101	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184071921	184071921	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:184071921G>A	ENST00000265593.4	-	15	1860	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.P563P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Silent_p.P546P|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Silent_p.P519P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	563					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.P563P(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCAGGTAGGGCAGTTTCT	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003foi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1687-1689)CCC>CCT		chloride channel 2	Lubiprostone(DB01046)						57.0	55.0	56.0					3																	184071921		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071921G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1689C>T	3.37:g.184071921G>A			OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_uc003foh.2_Silent_p.P87P|CLCN2_uc010hya.1_Silent_p.P546P|CLCN2_uc011brl.1_Silent_p.P563P|CLCN2_uc011brm.1_Silent_p.P519P	p.P563P	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1813	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		563			Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.1689C>T	CCDS3263.1																																																																																				PASS	0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			14	25	14	25	---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184075218	184075218	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:184075218C>T	ENST00000265593.4	-	8	1001	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R277Q|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R277Q|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.R233Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	277					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.R277Q(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAAGAAGCCCCGCCAGTAGTT	0.637																																						uc003foi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CGG>CAG		chloride channel 2	Lubiprostone(DB01046)						82.0	92.0	89.0					3																	184075218		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184075218C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.830G>A	3.37:g.184075218C>T	ENSP00000265593:p.Arg277Gln					CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R277Q|CLCN2_uc011brl.1_Missense_Mutation_p.R277Q|CLCN2_uc011brm.1_Missense_Mutation_p.R233Q|CLCN2_uc011brn.1_Missense_Mutation_p.R277Q	p.R277Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	954	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		277			Helical; (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.830G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.962658	0.92791	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.53	4.64	0.57946	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	D	0.96828	0.9609	10	0.87932	D	0	-11.909	15.1004	0.72269	0.0:0.8573:0.1427:0.0	.	277;233;277;277;277	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	Q	277;277;233;277	ENSP00000265593:R277Q;ENSP00000345056:R277Q;ENSP00000400425:R233Q;ENSP00000391928:R277Q	ENSP00000265593:R277Q	R	-	2	0	CLCN2	185557912	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.070000	0.71220	1.293000	0.44690	0.561000	0.74099	CGG		PASS	0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			28	51	28	51	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184106703	184106703	+	Missense_Mutation	SNP	G	G	A	rs372347094		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:184106703G>A	ENST00000204604.1	+	22	2978	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	CHRD_ENST00000450923.1_Missense_Mutation_p.R911Q|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R871Q|CHRD_ENST00000545352.1_Missense_Mutation_p.R453Q	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	911	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R911Q(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGTGAGCGGGATGACTGT	0.622																																						uc003fov.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2731-2733)CGG>CAG		chordin precursor		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	96.0		2732	4.9	1.0	3		96	0,8600		0,0,4300	no	missense	CHRD	NM_003741.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	911/956	184106703	1,13005	2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184106703G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2732G>A	3.37:g.184106703G>A	ENSP00000204604:p.Arg911Gln					CHRD_uc003fow.2_Missense_Mutation_p.R541Q|CHRD_uc003fox.2_Missense_Mutation_p.R911Q|CHRD_uc003foy.2_Missense_Mutation_p.R541Q|CHRD_uc010hyc.2_Missense_Mutation_p.R501Q|CHRD_uc011brr.1_Missense_Mutation_p.R453Q	p.R911Q	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	2978	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		911			VWFC 4.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2732G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460362	0.84317	2.27E-4	0.0	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.93	4.93	0.64822	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.77406	2.37	0.26521	N	0.974434	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.984;0.996;0.992;0.997	T	0.72462	-0.4286	10	0.66056	D	0.02	-24.7512	13.6767	0.62458	0.0:0.0:1.0:0.0	.	453;871;911;911	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Q	911;911;871;453	ENSP00000204604:R911Q;ENSP00000408972:R911Q;ENSP00000334036:R871Q;ENSP00000442948:R453Q	ENSP00000204604:R911Q	R	+	2	0	CHRD	185589397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.184000	0.65070	2.273000	0.75805	0.655000	0.94253	CGG		PASS	0.622	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		4	22	4	22	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185191163	185191163	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:185191163C>T	ENST00000265026.3	+	11	2378	c.2044C>T	c.(2044-2046)Cca>Tca	p.P682S	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P475S|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P682S|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P538S|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P538S	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.P682S(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTGCGGAGCCCACTCAGCAA	0.592																																						uc010hyf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2044-2046)CCA>TCA		mitogen-activated protein kinase kinase kinase							86.0	87.0	86.0					3																	185191163		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185191163C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2044C>T	3.37:g.185191163C>T	ENSP00000265026:p.Pro682Ser					MAP3K13_uc011brt.1_Missense_Mutation_p.P475S|MAP3K13_uc011bru.1_Missense_Mutation_p.P538S|MAP3K13_uc003fpi.2_Missense_Mutation_p.P682S|MAP3K13_uc010hyg.2_Missense_Mutation_p.P372S	p.P682S	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2310	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		682						Missense_Mutation	SNP	ENST00000265026.3	37	c.2044C>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876042	0.91664	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.05683	-1.0870	10	0.16896	T	0.51	.	19.7292	0.96176	0.0:1.0:0.0:0.0	.	538;475;682	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	S	475;682;538;538;682	ENSP00000411483:P475S;ENSP00000399910:P682S;ENSP00000409325:P538S;ENSP00000439257:P538S;ENSP00000265026:P682S	ENSP00000265026:P682S	P	+	1	0	MAP3K13	186673857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.613000	0.82986	2.654000	0.90174	0.561000	0.74099	CCA		PASS	0.592	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		32	79	32	79	---	---	---	---
DGKG	1608	broad.mit.edu	37	3	185960312	185960312	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:185960312G>A	ENST00000265022.3	-	20	2346	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	DGKG_ENST00000544847.1_Missense_Mutation_p.P544S|DGKG_ENST00000344484.4_Missense_Mutation_p.P578S|DGKG_ENST00000382164.4_Missense_Mutation_p.P564S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	603					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P603S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AATTTTTCAGGATGTTTCTCT	0.532											OREG0015965	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fqa.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1807-1809)CCT>TCT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						98.0	85.0	90.0					3																	185960312		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185960312G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1807C>T	3.37:g.185960312G>A	ENSP00000265022:p.Pro603Ser		OREG0015965	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2003	DGKG_uc003fqb.2_Missense_Mutation_p.P564S|DGKG_uc003fqc.2_Missense_Mutation_p.P578S|DGKG_uc011brx.1_Missense_Mutation_p.P544S	p.P603S	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	20	2344	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		603					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1807C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894841	0.91962	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.28	5.28	0.74379	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.983;0.996;0.991;0.992	T	0.81215	-0.1034	10	0.87932	D	0	.	17.8379	0.88706	0.0:0.0:1.0:0.0	.	544;578;564;603	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	S	603;578;564;544;567	ENSP00000265022:P603S;ENSP00000339777:P578S;ENSP00000371599:P564S;ENSP00000440507:P544S	ENSP00000265022:P603S	P	-	1	0	DGKG	187443006	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.146000	0.94640	2.745000	0.94114	0.655000	0.94253	CCT		PASS	0.532	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			11	32	11	32	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186522462	186522462	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:186522462G>A	ENST00000392481.2	-	2	322	c.41C>T	c.(40-42)cCc>cTc	p.P14L	RFC4_ENST00000296273.2_Missense_Mutation_p.P14L|RFC4_ENST00000433496.1_Missense_Mutation_p.P14L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	14					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.P14L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GGTCAGCGGGGGTTTAGTACT	0.448																																						uc003fqz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(40-42)CCC>CTC		replication factor C 4							152.0	136.0	141.0					3																	186522462		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186522462G>A		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.41C>T	3.37:g.186522462G>A	ENSP00000376272:p.Pro14Leu					RFC4_uc011bsc.1_Missense_Mutation_p.P14L|RFC4_uc011bsd.1_Missense_Mutation_p.P14L	p.P14L	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	2	264	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		14					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.41C>T	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243516	0.22796	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497;ENST00000411792	T;T;T;T;T;T;T	0.42900	2.27;2.28;2.28;0.96;0.97;0.97;0.97	5.32	3.51	0.40186	.	0.491702	0.23638	N	0.046056	T	0.23965	0.0580	N	0.14661	0.345	0.43852	D	0.996447	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.04090	-1.0978	10	0.22706	T	0.39	-2.0407	10.1527	0.42803	0.1666:0.0:0.8334:0.0	.	14;14	B4DM41;P35249	.;RFC4_HUMAN	L	14	ENSP00000399769:P14L;ENSP00000376272:P14L;ENSP00000296273:P14L;ENSP00000411300:P14L;ENSP00000413065:P14L;ENSP00000407982:P14L;ENSP00000415099:P14L	ENSP00000296273:P14L	P	-	2	0	RFC4	188005156	1.000000	0.71417	0.096000	0.21009	0.024000	0.10985	5.351000	0.66022	0.719000	0.32188	0.563000	0.77884	CCC		PASS	0.448	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		37	56	37	56	---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186572227	186572227	+	Silent	SNP	C	C	T	rs188144290		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:186572227C>T	ENST00000412955.2	+	3	610	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	ADIPOQ_ENST00000444204.2_Silent_p.L157L|ADIPOQ_ENST00000320741.2_Silent_p.L157L|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	157	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.L157L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CATTCCTGGGCTGTACTACTT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22142	0.0		0.0	False		,,,				2504	0.0					uc003fra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(469-471)CTG>TTG		adiponectin precursor							183.0	161.0	168.0					3																	186572227		2203	4300	6503	SO:0001819	synonymous_variant	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572227C>T	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.469C>T	3.37:g.186572227C>T						ADIPOQ_uc010hyy.2_Silent_p.L157L	p.L157L	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	553	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		157			C1q.		Q58EX9	Silent	SNP	ENST00000412955.2	37	c.469C>T	CCDS3284.1																																																																																				PASS	0.448	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		30	68	30	68	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186980425	186980425	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:186980425G>A	ENST00000337774.5	-	3	710	c.321C>T	c.(319-321)gtC>gtT	p.V107V	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.V81V|MASP1_ENST00000169293.6_Silent_p.V107V|MASP1_ENST00000296280.6_Silent_p.V107V|MASP1_ENST00000392472.2_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	107	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.V107V(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGGGAGAGGACCACCTCCT	0.547																																						uc003frh.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|breast(1)|liver(1)	4						c.(319-321)GTC>GTT		mannan-binding lectin serine protease 1 isoform							89.0	84.0	86.0					3																	186980425		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186980425G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.321C>T	3.37:g.186980425G>A						MASP1_uc003fri.2_Silent_p.V107V|MASP1_uc003frj.2_Silent_p.V76V|MASP1_uc003frk.1_Silent_p.V107V|MASP1_uc011bse.1_Silent_p.V81V	p.V107V	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	3	653	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		107			Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.321C>T	CCDS33907.1																																																																																				PASS	0.547	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		19	39	19	39	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188202419	188202419	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:188202419C>T	ENST00000312675.4	+	4	479	c.233C>T	c.(232-234)tCc>tTc	p.S78F	LPP_ENST00000448637.1_Missense_Mutation_p.S78F|LPP_ENST00000543006.1_Missense_Mutation_p.S78F	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	78	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.S78F(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTAGATGATTCCAGTGCCCTT	0.418			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(232-234)TCC>TTC		LIM domain containing preferred translocation							197.0	195.0	196.0					3																	188202419		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188202419C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.233C>T	3.37:g.188202419C>T	ENSP00000318089:p.Ser78Phe					LPP_uc011bsg.1_Missense_Mutation_p.S78F|LPP_uc011bsi.1_Missense_Mutation_p.S78F|LPP_uc003frt.2_Missense_Mutation_p.S78F	p.S78F	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	4	479	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	78			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.233C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	7.258	0.604533	0.14002	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000414139;ENST00000420410;ENST00000312675;ENST00000543006	T;T;T;T	0.56776	1.84;0.86;0.44;0.44	5.08	2.82	0.32997	.	0.347042	0.33382	N	0.004972	T	0.31009	0.0783	N	0.24115	0.695	0.09310	N	1	B;P;B	0.39094	0.012;0.659;0.108	B;B;B	0.36289	0.023;0.221;0.073	T	0.23190	-1.0195	10	0.66056	D	0.02	.	2.778	0.05353	0.245:0.5369:0.0:0.2181	.	78;78;78	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	F	78	ENSP00000393602:S78F;ENSP00000410340:S78F;ENSP00000318089:S78F;ENSP00000438891:S78F	ENSP00000318089:S78F	S	+	2	0	LPP	189685113	0.020000	0.18652	0.012000	0.15200	0.301000	0.27625	1.965000	0.40471	1.215000	0.43411	0.655000	0.94253	TCC		PASS	0.418	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		32	71	32	71	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189587146	189587146	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:189587146C>T	ENST00000264731.3	+	9	1252	c.1163C>T	c.(1162-1164)aCa>aTa	p.T388I	TP63_ENST00000418709.2_Missense_Mutation_p.T388I|TP63_ENST00000392463.2_Missense_Mutation_p.T294I|TP63_ENST00000456148.1_Missense_Mutation_p.T290I|TP63_ENST00000440651.2_Missense_Mutation_p.T384I|TP63_ENST00000449992.1_Missense_Mutation_p.T209I|TP63_ENST00000392460.3_Missense_Mutation_p.T388I|TP63_ENST00000320472.5_Missense_Mutation_p.T388I|TP63_ENST00000392461.3_Missense_Mutation_p.T294I|TP63_ENST00000354600.5_Missense_Mutation_p.T294I|TP63_ENST00000437221.1_Missense_Mutation_p.T294I|TP63_ENST00000382063.4_Missense_Mutation_p.T303I	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	388	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.T388I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCCAGATGACATCCATCAAG	0.393										HNSCC(45;0.13)																												uc003fry.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1162-1164)ACA>ATA		tumor protein p63 isoform 1							152.0	127.0	136.0					3																	189587146		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189587146C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1163C>T	3.37:g.189587146C>T	ENSP00000264731:p.Thr388Ile	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.T388I|TP63_uc003frz.2_Missense_Mutation_p.T388I|TP63_uc010hzc.1_Missense_Mutation_p.T388I|TP63_uc003fsa.2_Missense_Mutation_p.T294I|TP63_uc003fsb.2_Missense_Mutation_p.T294I|TP63_uc003fsc.2_Missense_Mutation_p.T294I|TP63_uc003fsd.2_Missense_Mutation_p.T294I|TP63_uc010hzd.1_Missense_Mutation_p.T209I|TP63_uc003fse.1_Missense_Mutation_p.T265I	p.T388I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	9	1252	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		388			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1163C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267422	0.59540	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99704	-6.15;-6.42;-6.42;-6.41;-6.11;-6.45;-6.13;-6.4;-6.4;-6.4;-6.46;-6.09	5.95	5.95	0.96441	.	0.107189	0.64402	D	0.000006	D	0.98495	0.9498	N	0.22421	0.69	0.54753	D	0.999981	B;B;B;B;B;B;B;B;B;B	0.23650	0.089;0.003;0.003;0.089;0.054;0.006;0.002;0.008;0.002;0.018	B;B;B;B;B;B;B;B;B;B	0.30401	0.115;0.029;0.029;0.081;0.051;0.016;0.005;0.032;0.013;0.029	D	0.99835	1.1057	9	.	.	.	-10.3729	17.5491	0.87871	0.0:1.0:0.0:0.0	.	209;388;384;294;294;294;294;388;388;388	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	I	388;388;388;388;384;303;294;294;294;294;209;290	ENSP00000264731:T388I;ENSP00000407144:T388I;ENSP00000317510:T388I;ENSP00000376253:T388I;ENSP00000394337:T384I;ENSP00000371495:T303I;ENSP00000346614:T294I;ENSP00000392488:T294I;ENSP00000376256:T294I;ENSP00000376254:T294I;ENSP00000387839:T209I;ENSP00000389485:T290I	.	T	+	2	0	TP63	191069840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.972000	0.63756	2.824000	0.97209	0.655000	0.94253	ACA		PASS	0.393	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		10	45	10	45	---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190106125	190106125	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:190106125G>A	ENST00000264734.2	+	1	465	c.217G>A	c.(217-219)Gat>Aat	p.D73N	CLDN16_ENST00000456423.1_Missense_Mutation_p.D73N|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	73					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.D73N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CACAATGAGGGATCTTCTTCA	0.517																																						uc003fsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)GAT>AAT		claudin 16							277.0	240.0	253.0					3																	190106125		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106125G>A	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.217G>A	3.37:g.190106125G>A	ENSP00000264734:p.Asp73Asn					CLDN16_uc010hze.2_Missense_Mutation_p.D73N	p.D73N	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	285	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		73			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264734.2	37	c.217G>A	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426665	0.25726	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.92048	-2.55;-2.96	5.91	2.11	0.27256	.	0.592517	0.17706	N	0.164773	D	0.84451	0.5475	L	0.29908	0.895	0.25538	N	0.987207	B;B	0.32010	0.01;0.351	B;B	0.34652	0.017;0.187	T	0.71978	-0.4429	10	0.23891	T	0.37	-17.3229	6.0211	0.19630	0.2299:0.1353:0.6348:0.0	.	73;73	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	N	73	ENSP00000264734:D73N;ENSP00000414136:D73N	ENSP00000264734:D73N	D	+	1	0	CLDN16	191588819	0.322000	0.24634	0.997000	0.53966	0.369000	0.29798	0.249000	0.18216	0.413000	0.25759	-0.374000	0.07098	GAT		PASS	0.517	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		24	65	24	65	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	192993070	192993070	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:192993070C>T	ENST00000342358.4	-	30	3535	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1140						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E1140K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGCCAGAGTTCATGATTTTGA	0.458																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(3418-3420)GAA>AAA		ATPase type 13A5							74.0	74.0	74.0					3																	192993070		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:192993070C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3418G>A	3.37:g.192993070C>T	ENSP00000341942:p.Glu1140Lys						p.E1140K	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	30	3418	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1140					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.3418G>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	4.024	0.001945	0.07819	.	.	ENSG00000187527	ENST00000342358	T	0.41400	1.0	5.59	3.64	0.41730	.	0.715167	0.13795	N	0.362242	T	0.19087	0.0458	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29397	-1.0013	10	0.07030	T	0.85	-5.6749	3.4822	0.07606	0.1697:0.5708:0.1644:0.095	.	1140	Q4VNC0	AT135_HUMAN	K	1140	ENSP00000341942:E1140K	ENSP00000341942:E1140K	E	-	1	0	ATP13A5	194475764	0.000000	0.05858	0.931000	0.37212	0.801000	0.45260	-0.063000	0.11655	1.311000	0.45024	0.563000	0.77884	GAA		PASS	0.458	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		20	53	20	53	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080933	194080933	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:194080933G>A	ENST00000347624.3	-	2	925	c.840C>T	c.(838-840)tcC>tcT	p.S280S	LRRC15_ENST00000439944.2_Silent_p.S286S|LRRC15_ENST00000428839.1_Silent_p.S286S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	280					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.S280S(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)		GCTCCTTCAGGGAATTCCCAA	0.557																																						uc003ftu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(838-840)TCC>TCT		leucine rich repeat containing 15 isoform b							101.0	109.0	106.0					3																	194080933		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080933G>A	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.840C>T	3.37:g.194080933G>A						LRRC15_uc003ftt.2_Silent_p.S286S	p.S280S	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	926	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		280			Extracellular (Potential).|LRR 10.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.840C>T	CCDS3306.1																																																																																				PASS	0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			32	34	32	34	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194147970	194147970	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:194147970G>A	ENST00000439040.1	-	29	3750	c.2959C>T	c.(2959-2961)Cct>Tct	p.P987S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P987S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	987						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P987S(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCCAGGCAGGATTTAAACTC	0.358																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2959-2961)CCT>TCT		ATPase type 13A3							48.0	49.0	49.0					3																	194147970		1814	4068	5882	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194147970G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2959C>T	3.37:g.194147970G>A	ENSP00000416508:p.Pro987Ser					ATP13A3_uc003ftx.3_5'Flank	p.P987S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	28	3361	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	987					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2959C>T	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481747	0.26598	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.90385	-2.66;-2.66	5.3	4.43	0.53597	.	0.158832	0.56097	N	0.000025	T	0.82116	0.4967	N	0.20328	0.56	0.44570	D	0.997534	B	0.15719	0.014	B	0.14023	0.01	T	0.74945	-0.3491	10	0.11485	T	0.65	-5.5041	13.8964	0.63775	0.0737:0.0:0.9263:0.0	.	987	Q9H7F0	AT133_HUMAN	S	987	ENSP00000416508:P987S;ENSP00000256031:P987S	ENSP00000256031:P987S	P	-	1	0	ATP13A3	195629259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.585000	0.53943	1.232000	0.43678	0.585000	0.79938	CCT		PASS	0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		8	27	8	27	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195477834	195477834	+	Missense_Mutation	SNP	C	C	T	rs200506056		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:195477834C>T	ENST00000346145.4	-	22	3128	c.3089G>A	c.(3088-3090)cGg>cAg	p.R1030Q	MUC4_ENST00000349607.4_Missense_Mutation_p.R979Q|MUC4_ENST00000463781.3_Missense_Mutation_p.R5266Q|MUC4_ENST00000475231.1_Missense_Mutation_p.R5214Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2023	Repeat.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.R5138Q(1)|p.R1030Q(1)|p.R5266Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCACTCCTCCGTGGAACGTG	0.627																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(15412-15414)CGG>CAG		mucin 4 isoform a							68.0	59.0	62.0					3																	195477834		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195477834C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3089G>A	3.37:g.195477834C>T	ENSP00000304207:p.Arg1030Gln					MUC4_uc010hzq.2_Missense_Mutation_p.R123Q|MUC4_uc003fuz.2_Missense_Mutation_p.R864Q|MUC4_uc003fva.2_Missense_Mutation_p.R746Q|MUC4_uc003fvb.2_Missense_Mutation_p.R782Q|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R782Q|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R746Q|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R830Q|MUC4_uc011bti.1_Missense_Mutation_p.R830Q|MUC4_uc011btj.1_Missense_Mutation_p.R1007Q|MUC4_uc011btk.1_Missense_Mutation_p.R746Q|MUC4_uc011btl.1_Missense_Mutation_p.R775Q|MUC4_uc011btm.1_Missense_Mutation_p.R955Q|MUC4_uc011btn.1_Missense_Mutation_p.R746Q|MUC4_uc003fvo.2_Missense_Mutation_p.R1030Q|MUC4_uc003fvp.2_Missense_Mutation_p.R979Q	p.R5138Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	24	15873	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2023					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15413G>A	CCDS3310.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	11.67	1.708027	0.30322	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38240	1.15;1.51;1.45;1.44	4.91	-5.75	0.02384	.	1.944030	0.02464	N	0.086814	T	0.22627	0.0546	L	0.29908	0.895	0.09310	N	1	B;P;P;B;B;D	0.54601	0.256;0.847;0.847;0.01;0.01;0.967	B;B;B;B;B;B	0.40982	0.029;0.122;0.164;0.003;0.003;0.345	T	0.35025	-0.9805	10	0.21540	T	0.41	-0.2289	7.2949	0.26387	0.0:0.1779:0.2822:0.5399	.	5138;979;1030;5266;5214;1971	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	Q	979;1030;5266;5214;1766	ENSP00000338109:R979Q;ENSP00000304207:R1030Q;ENSP00000417498:R5266Q;ENSP00000420243:R5214Q	ENSP00000304207:R1030Q	R	-	2	0	MUC4	196963505	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.716000	0.01878	-1.124000	0.02936	-0.271000	0.10264	CGG		PASS	0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		26	27	26	27	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195492231	195492231	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:195492231G>A	ENST00000346145.4	-	8	1039	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	MUC4_ENST00000349607.4_Missense_Mutation_p.R283W|MUC4_ENST00000463781.3_Missense_Mutation_p.R4570W|MUC4_ENST00000475231.1_Missense_Mutation_p.R4518W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1327					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.R4570W(1)|p.R4442W(1)|p.R334W(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGCCACCGAGGCTGGCTC	0.627																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(13324-13326)CGG>TGG		mucin 4 isoform a							40.0	38.0	39.0					3																	195492231		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195492231G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1000C>T	3.37:g.195492231G>A	ENSP00000304207:p.Arg334Trp					MUC4_uc003fuz.2_Missense_Mutation_p.R168W|MUC4_uc003fva.2_Missense_Mutation_p.R50W|MUC4_uc003fvb.2_Missense_Mutation_p.R86W|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R86W|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R50W|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R134W|MUC4_uc011bti.1_Missense_Mutation_p.R134W|MUC4_uc011btj.1_Missense_Mutation_p.R311W|MUC4_uc011btk.1_Missense_Mutation_p.R50W|MUC4_uc011btl.1_Missense_Mutation_p.R79W|MUC4_uc011btm.1_Missense_Mutation_p.R259W|MUC4_uc011btn.1_Missense_Mutation_p.R50W|MUC4_uc003fvo.2_Missense_Mutation_p.R334W|MUC4_uc003fvp.2_Missense_Mutation_p.R283W|MUC4_uc010hzu.1_Missense_Mutation_p.R1182W	p.R4442W	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	10	13784	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1327			AMOP.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13324C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	8.919	0.960721	0.18583	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38722	1.12;1.48;1.42;1.46	3.91	2.05	0.26809	AMOP (2);	1.602110	0.04579	U	0.394602	T	0.46367	0.1389	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P;P;D	0.76494	0.999;0.984;0.995;0.995;0.938;0.938;0.99	P;P;P;P;P;P;P	0.62560	0.904;0.744;0.533;0.533;0.448;0.448;0.556	T	0.37619	-0.9698	10	0.54805	T	0.06	.	5.8843	0.18872	0.184:0.2714:0.5446:0.0	.	4442;1327;283;334;4570;4518;1275	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	W	283;334;4570;4518;1296	ENSP00000338109:R283W;ENSP00000304207:R334W;ENSP00000417498:R4570W;ENSP00000420243:R4518W	ENSP00000304207:R334W	R	-	1	2	MUC4	196977902	0.327000	0.24678	1.000000	0.80357	0.320000	0.28249	1.725000	0.38074	0.876000	0.35872	-0.394000	0.06481	CGG		PASS	0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		11	23	11	23	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197427768	197427768	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:197427768G>A	ENST00000296343.5	-	7	976	c.977C>T	c.(976-978)gCc>gTc	p.A326V	KIAA0226_ENST00000389665.5_Missense_Mutation_p.A326V|KIAA0226_ENST00000273582.5_Missense_Mutation_p.A266V|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000449205.1_Missense_Mutation_p.A326V	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	326	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.A266V(1)|p.A159V(1)|p.A326V(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTTGCCAATGGCCAGGTACTC	0.587																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(976-978)GCC>GTC		hypothetical protein LOC9711 isoform 2.							42.0	46.0	44.0					3																	197427768		1996	4179	6175	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427768G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.977C>T	3.37:g.197427768G>A	ENSP00000296343:p.Ala326Val					KIAA0226_uc003fyd.3_Missense_Mutation_p.A266V|KIAA0226_uc003fye.1_Missense_Mutation_p.A33V|KIAA0226_uc003fyf.2_Missense_Mutation_p.A159V|KIAA0226_uc003fyg.2_Missense_Mutation_p.A319V	p.A326V	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1160	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		326			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.977C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.196749|5.196749	0.94960|0.94960	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000415452	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057806|.	0.64402|.	D|.	0.000002|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D;P;D|.	0.89917|.	1.0;0.999;1.0;0.775;1.0|.	D;D;D;P;D|.	0.91635|.	0.997;0.995;0.999;0.481;0.997|.	T|T	0.53244|0.53244	-0.8466|-0.8466	9|5	0.56958|.	D|.	0.05|.	.|.	18.0534|18.0534	0.89356|0.89356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	326;159;326;266;326|.	E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;.;RUBIC_HUMAN|.	V|S	266;326;326;326|85	.|.	ENSP00000273582:A266V|.	A|P	-|-	2|1	0|0	KIAA0226|KIAA0226	198912165|198912165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.763000|8.763000	0.91715|0.91715	2.699000|2.699000	0.92147|0.92147	0.561000|0.561000	0.74099|0.74099	GCC|CCA		PASS	0.587	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		34	26	34	26	---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197574806	197574806	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:197574806G>A	ENST00000425562.2	+	12	1444	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	LRCH3_ENST00000441090.2_Missense_Mutation_p.E328K|LRCH3_ENST00000438796.2_Missense_Mutation_p.E482K|LRCH3_ENST00000334859.4_Missense_Mutation_p.E482K|LRCH3_ENST00000536618.1_Missense_Mutation_p.E77K|LRCH3_ENST00000414675.2_Missense_Mutation_p.E454K			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	482						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.E482K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CACTCGGAGAGAGGCTCAGCT	0.478																																						uc011bul.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1444-1446)GAG>AAG		leucine-rich repeats and calponin homology (CH)							107.0	101.0	103.0					3																	197574806		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197574806G>A	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1444G>A	3.37:g.197574806G>A	ENSP00000393579:p.Glu482Lys					LRCH3_uc003fyj.1_Missense_Mutation_p.E482K|LRCH3_uc011bum.1_Missense_Mutation_p.E454K|LRCH3_uc011bun.1_Missense_Mutation_p.E328K|LRCH3_uc003fyk.2_Missense_Mutation_p.E77K	p.E482K	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	12	1449	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		482					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1444G>A		.	.	.	.	.	.	.	.	.	.	G	28.5	4.923506	0.92319	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.51071	1.95;1.36;1.45;2.2;1.97;0.72	5.49	5.49	0.81192	.	0.106801	0.64402	D	0.000008	T	0.59169	0.2174	L	0.34521	1.04	0.40897	D	0.984127	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.991	P;D;D;D;P	0.79784	0.896;0.993;0.987;0.917;0.798	T	0.59705	-0.7404	10	0.48119	T	0.1	-13.5241	17.2024	0.86909	0.0:0.0:1.0:0.0	.	328;454;482;482;482	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	K	482;328;454;482;482;77	ENSP00000399751:E482K;ENSP00000394609:E328K;ENSP00000394965:E454K;ENSP00000334375:E482K;ENSP00000393579:E482K;ENSP00000439083:E77K	ENSP00000334375:E482K	E	+	1	0	LRCH3	199059203	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.250000	0.72435	2.588000	0.87417	0.644000	0.83932	GAG		PASS	0.478	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		34	65	34	65	---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197717443	197717443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr3:197717443C>T	ENST00000330198.4	+	9	965	c.943C>T	c.(943-945)Caa>Taa	p.Q315*	LMLN_ENST00000482695.1_Nonsense_Mutation_p.Q263*|LMLN_ENST00000332636.5_Nonsense_Mutation_p.Q263*|LMLN_ENST00000420910.2_Nonsense_Mutation_p.Q315*	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	315					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q315*(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGGATTATATCAATGGAGTGA	0.303																																						uc011buo.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(943-945)CAA>TAA		leishmanolysin-like isoform 2							128.0	123.0	125.0					3																	197717443		2203	4300	6503	SO:0001587	stop_gained	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197717443C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.943C>T	3.37:g.197717443C>T	ENSP00000328829:p.Gln315*					LMLN_uc003fyt.2_Nonsense_Mutation_p.Q263*|LMLN_uc010iar.2_Nonsense_Mutation_p.Q315*|LMLN_uc010ias.2_Nonsense_Mutation_p.Q263*|LMLN_uc003fyu.2_Nonsense_Mutation_p.Q75*	p.Q315*	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	9	965	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	315					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Nonsense_Mutation	SNP	ENST00000330198.4	37	c.943C>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	37	6.623259	0.97714	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.3572	13.4752	0.61303	0.0:1.0:0.0:0.0	.	.	.	.	X	263;315;315;263	.	ENSP00000328829:Q315X	Q	+	1	0	LMLN	199201840	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.590000	0.74085	2.542000	0.85734	0.485000	0.47835	CAA		PASS	0.303	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		18	28	18	28	---	---	---	---
ZNF141	7700	broad.mit.edu	37	4	338216	338216	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:338216C>T	ENST00000240499.7	+	3	372	c.223C>T	c.(223-225)Cca>Tca	p.P75S	ZNF141_ENST00000505939.1_Missense_Mutation_p.P75S|ZNF141_ENST00000512994.1_Missense_Mutation_p.P75S	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P75S(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCCAGACCCCCAGGTAGGTG	0.517																																						uc003gaa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CCA>TCA		zinc finger protein 141							48.0	48.0	48.0					4																	338216		2203	4300	6503	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:338216C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.223C>T	4.37:g.338216C>T	ENSP00000240499:p.Pro75Ser					ZNF141_uc003fzz.2_Missense_Mutation_p.P75S|ZNF141_uc003gab.2_Missense_Mutation_p.P75S	p.P75S	NM_003441	NP_003432	Q15928	ZN141_HUMAN			4	401	+			75			KRAB.		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.223C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611471	0.28712	.	.	ENSG00000131127	ENST00000512994;ENST00000505939;ENST00000240499	T;T;T	0.05786	7.19;5.33;3.39	0.118	0.118	0.14667	Krueppel-associated box (1);	.	.	.	.	T	0.14917	0.0360	L	0.49699	1.58	0.21527	N	0.99966	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.87578	0.996;0.666;0.998	T	0.15809	-1.0424	8	0.37606	T	0.19	.	.	.	.	.	75;75;75	D6RIY0;Q15928;D6RB60	.;ZN141_HUMAN;.	S	75	ENSP00000425799:P75S;ENSP00000424403:P75S;ENSP00000240499:P75S	ENSP00000240499:P75S	P	+	1	0	ZNF141	328216	0.056000	0.20664	0.414000	0.26521	0.421000	0.31385	0.269000	0.18589	0.191000	0.20236	0.194000	0.17425	CCA		PASS	0.517	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		16	29	16	29	---	---	---	---
ZNF141	7700	broad.mit.edu	37	4	367492	367492	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:367492C>T	ENST00000240499.7	+	4	1415	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	422					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P422P(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAGATAAACCCTACAAATGTA	0.358																																						uc003gaa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1264-1266)CCC>CCT		zinc finger protein 141							84.0	90.0	88.0					4																	367492		2203	4300	6503	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367492C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1266C>T	4.37:g.367492C>T						ZNF141_uc003gab.2_Intron	p.P422P	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1444	+			422					Q6DK07	Silent	SNP	ENST00000240499.7	37	c.1266C>T	CCDS33931.1																																																																																				PASS	0.358	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		47	70	47	70	---	---	---	---
MFSD7	84179	broad.mit.edu	37	4	678526	678526	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:678526G>A	ENST00000404286.2	-	5	720	c.705C>T	c.(703-705)ttC>ttT	p.F235F	MFSD7_ENST00000515118.1_Silent_p.F138F|MFSD7_ENST00000503156.1_Silent_p.F171F|MFSD7_ENST00000322224.4_Silent_p.F235F|MFSD7_ENST00000347950.5_Silent_p.F116F|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.F235F(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCCATCCAGGAACTTCTCTG	0.672																																						uc003gay.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(703-705)TTC>TTT		major facilitator superfamily domain containing							33.0	42.0	39.0					4																	678526		2202	4293	6495	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:678526G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.705C>T	4.37:g.678526G>A						MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Silent_p.F235F|MFSD7_uc003gaz.2_Silent_p.F116F|MFSD7_uc003gba.2_Silent_p.F138F|MFSD7_uc003gbb.1_Silent_p.F171F	p.F235F	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			5	762	-			235					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.705C>T																																																																																					PASS	0.672	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		22	36	22	36	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2082703	2082703	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:2082703G>A	ENST00000511885.2	-	23	2722	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F	POLN_ENST00000382865.1_Missense_Mutation_p.S790F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	790					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.S790F(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAAGGTGTGGGAAGCAGCCAC	0.602								DNA polymerases (catalytic subunits)																														uc003ger.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|skin(1)	4						c.(2368-2370)TCC>TTC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							140.0	131.0	134.0					4																	2082703		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2082703G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2369C>T	4.37:g.2082703G>A	ENSP00000435506:p.Ser790Phe					POLN_uc010icg.1_Missense_Mutation_p.S238F|POLN_uc010ich.1_3'UTR	p.S790F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		21	2369	-			790					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.2369C>T	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.01|11.01	1.512501|1.512501	0.27123|0.27123	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511098|ENST00000511885;ENST00000382865;ENST00000253313	.|D;D	.|0.96619	.|-4.07;-4.07	4.15|4.15	4.15|4.15	0.48705|0.48705	.|DNA-directed DNA polymerase, family A, palm domain (2);	.|0.242138	.|0.33161	.|N	.|0.005204	D|D	0.97476|0.97476	0.9174|0.9174	M|M	0.74467|0.74467	2.265|2.265	0.09310|0.09310	N|N	0.99999|0.99999	.|D;P	.|0.71674	.|0.998;0.489	.|D;P	.|0.72982	.|0.979;0.474	D|D	0.92539|0.92539	0.6040|0.6040	5|10	.|0.87932	.|D	.|0	-11.8309|-11.8309	12.1593|12.1593	0.54096|0.54096	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|481;790	.|E9PE06;Q7Z5Q5	.|.;DPOLN_HUMAN	S|F	423|790;790;481	.|ENSP00000435506:S790F;ENSP00000372316:S790F	.|ENSP00000253313:S481F	P|S	-|-	1|2	0|0	POLN|POLN	2052501|2052501	0.998000|0.998000	0.40836|0.40836	0.057000|0.057000	0.19452|0.19452	0.008000|0.008000	0.06430|0.06430	6.209000|6.209000	0.72171|0.72171	2.309000|2.309000	0.77851|0.77851	0.561000|0.561000	0.74099|0.74099	CCC|TCC		PASS	0.602	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		18	41	18	41	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2097593	2097593	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:2097593C>T	ENST00000511885.2	-	20	2403	c.2050G>A	c.(2050-2052)Gtg>Atg	p.V684M	POLN_ENST00000382865.1_Missense_Mutation_p.V684M			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	684					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.V684M(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCATAGACCACCGCGTACACC	0.577								DNA polymerases (catalytic subunits)																														uc003ger.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|skin(1)	4						c.(2050-2052)GTG>ATG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							239.0	189.0	206.0					4																	2097593		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2097593C>T	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2050G>A	4.37:g.2097593C>T	ENSP00000435506:p.Val684Met					POLN_uc010icg.1_Missense_Mutation_p.V132M|POLN_uc010ich.1_Missense_Mutation_p.V216M	p.V684M	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		18	2050	-			684					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.2050G>A	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006545	0.35415	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.23348	1.91;1.91	3.68	3.68	0.42216	DNA-directed DNA polymerase, family A, palm domain (2);	0.072669	0.53938	D	0.000044	T	0.42268	0.1195	L	0.50993	1.605	0.39478	D	0.967833	D;D;D	0.89917	1.0;0.999;0.993	D;D;D	0.87578	0.998;0.983;0.976	T	0.39375	-0.9617	10	0.87932	D	0	-8.8596	11.2027	0.48751	0.0:1.0:0.0:0.0	.	215;375;684	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	M	684;684;375;215	ENSP00000435506:V684M;ENSP00000372316:V684M	ENSP00000253313:V375M	V	-	1	0	POLN	2067391	0.913000	0.31002	0.898000	0.35279	0.122000	0.20287	2.152000	0.42272	2.343000	0.79666	0.563000	0.77884	GTG		PASS	0.577	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		19	43	19	43	---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3021501	3021501	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:3021501A>T	ENST00000398052.4	+	9	1218	c.875A>T	c.(874-876)tAt>tTt	p.Y292F	GRK4_ENST00000504933.1_Missense_Mutation_p.Y292F|GRK4_ENST00000398051.4_Missense_Mutation_p.Y260F|GRK4_ENST00000345167.6_Missense_Mutation_p.Y260F	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.Y292F(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCGTTTTCTATGCTGCAGAG	0.483																																						uc003ggn.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(874-876)TAT>TTT		G protein-coupled receptor kinase 4 isoform							146.0	140.0	142.0					4																	3021501		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3021501A>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.875A>T	4.37:g.3021501A>T	ENSP00000381129:p.Tyr292Phe					GRK4_uc003ggo.1_Missense_Mutation_p.Y292F|GRK4_uc003ggp.1_Missense_Mutation_p.Y260F|GRK4_uc003ggq.1_Missense_Mutation_p.Y260F	p.Y292F	NM_182982	NP_892027	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	1330	+			292			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.875A>T	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024793	0.93518	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.46425	0.1392	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.97;0.998;0.969;0.975	P;D;P;P	0.68192	0.728;0.956;0.812;0.882	T	0.46190	-0.9209	10	0.87932	D	0	-18.9532	14.5809	0.68288	1.0:0.0:0.0:0.0	.	260;260;292;292	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	F	260;292;260;292	ENSP00000381128:Y260F;ENSP00000381129:Y292F;ENSP00000264764:Y260F;ENSP00000427445:Y292F	ENSP00000264764:Y260F	Y	+	2	0	GRK4	2991299	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.058000	0.93896	2.098000	0.63641	0.449000	0.29647	TAT		PASS	0.483	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		31	70	31	70	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3188395	3188396	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:3188395_3188396CC>TT	ENST00000355072.5	+	38	5083_5084	c.4938_4939CC>TT	c.(4936-4941)ctCCgt>ctTTgt	p.R1647C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1647					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.R1647C(2)|p.L1646L(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTTCCTCCCTCCGTCCGGTAGA	0.47																																						uc011bvq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(2)|ovary(1)|lung(1)	4						c.(4942-4944)CTC>CTT|c.(4945-4947)CGT>TGT		huntingtin																																				SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3188395C>T|g.chr4:3188396C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	Exception_encountered	4.37:g.3188395_3188396delinsTT	ENSP00000347184:p.Arg1647Cys						p.L1648L|p.R1649C	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	39	5089|5090	+		all_epithelial(65;0.18)	1646|1647					Q9UQB7	Silent|Missense_Mutation	SNP	ENST00000355072.5	37	c.4944C>T|c.4945C>T	CCDS43206.1																																																																																				PASS	0.470	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		22|21	63	21	63	---	---	---	---
LRPAP1	4043	broad.mit.edu	37	4	3514746	3514746	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:3514746C>T	ENST00000500728.2	-	8	1175	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	343	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Q343Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CGGACAGGTCCTGCAGATGCT	0.627																																						uc003ghi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1027-1029)CAG>CAA		low density lipoprotein receptor-related protein							71.0	59.0	63.0					4																	3514746		2203	4300	6503	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3514746C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.1029G>A	4.37:g.3514746C>T						uc003ghh.3_5'Flank	p.Q343Q	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	8	1114	-			343			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.1029G>A	CCDS3371.1																																																																																				PASS	0.627	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			8	12	8	12	---	---	---	---
ZBTB49	166793	broad.mit.edu	37	4	4314796	4314796	+	Missense_Mutation	SNP	G	G	A	rs147341179		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:4314796G>A	ENST00000337872.4	+	5	1452	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	444					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.R444Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CACTTACGACGGCATTCTGGT	0.408																																						uc003ghu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1330-1332)CGG>CAG		zinc finger protein 509		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	166.0	145.0	152.0		1331	4.9	1.0	4	dbSNP_134	152	0,8600		0,0,4300	no	missense	ZBTB49	NM_145291.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	444/766	4314796	1,13005	2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4314796G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1331G>A	4.37:g.4314796G>A	ENSP00000338807:p.Arg444Gln					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron	p.R444Q	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			5	1506	+			444			C2H2-type 2.		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1331G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202211	0.94997	2.27E-4	0.0	ENSG00000168826	ENST00000337872	T	0.07444	3.19	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000156	T	0.23094	0.0558	L	0.46567	1.45	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.00595	-1.1653	10	0.62326	D	0.03	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	444	Q6ZSB9	ZBT49_HUMAN	Q	444	ENSP00000338807:R444Q	ENSP00000338807:R444Q	R	+	2	0	ZBTB49	4365697	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.483000	0.90442	2.296000	0.77279	0.650000	0.86243	CGG		PASS	0.408	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		18	28	18	28	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5468460	5468460	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:5468460G>A	ENST00000282908.5	+	10	1362	c.940G>A	c.(940-942)Gag>Aag	p.E314K	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.E237K|STK32B_ENST00000510398.1_Missense_Mutation_p.E267K	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.E314*(1)|p.E314K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCCACATTTGAGCTTGAAGA	0.443																																						uc003gih.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.E314*(1)	lung(1)|breast(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(940-942)GAG>AAG		serine/threonine kinase 32B							81.0	72.0	75.0					4																	5468460		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468460G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.940G>A	4.37:g.5468460G>A	ENSP00000282908:p.Glu314Lys					STK32B_uc010ida.1_Missense_Mutation_p.E267K	p.E314K	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			10	1004	+			314						Missense_Mutation	SNP	ENST00000282908.5	37	c.940G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012191	0.93346	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24723	1.84;1.84;1.84	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.000000	0.42420	U	0.000712	T	0.56992	0.2023	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64232	-0.6456	10	0.72032	D	0.01	.	17.2514	0.87043	0.0:0.0:1.0:0.0	.	314	Q9NY57	ST32B_HUMAN	K	314;237;267	ENSP00000282908:E314K;ENSP00000423209:E237K;ENSP00000420984:E267K	ENSP00000282908:E314K	E	+	1	0	STK32B	5519361	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.370000	0.90120	2.410000	0.81850	0.579000	0.79373	GAG		PASS	0.443	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		10	30	10	30	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5624517	5624517	+	Missense_Mutation	SNP	C	C	T	rs144270330	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:5624517C>T	ENST00000344408.5	-	14	2301	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	EVC2_ENST00000310917.2_Missense_Mutation_p.E670K|EVC2_ENST00000344938.1_Missense_Mutation_p.E750K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	750					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E750K(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CGCCGCAGCTCGTCGGTGGCC	0.652																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(2248-2250)GAG>AAG		limbin		C	LYS/GLU,LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	52.0	49.0	50.0		2008,2248	4.5	1.0	4	dbSNP_134	50	0,8600		0,0,4300	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	56,56	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging	670/1229,750/1309	5624517	4,13002	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5624517C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2248G>A	4.37:g.5624517C>T	ENSP00000342144:p.Glu750Lys					EVC2_uc011bwb.1_Missense_Mutation_p.E190K|EVC2_uc003gik.2_Missense_Mutation_p.E670K	p.E750K	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2302	-			750			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2248G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353453	0.82243	9.08E-4	0.0	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80909	-1.43;-1.43;-1.43	5.32	4.48	0.54585	.	0.202214	0.42294	D	0.000725	D	0.86318	0.5904	M	0.61703	1.905	0.41615	D	0.988937	D	0.89917	1.0	P	0.61070	0.883	D	0.87055	0.2149	10	0.51188	T	0.08	-27.4539	15.2764	0.73745	0.0:0.8596:0.1404:0.0	.	750	Q86UK5	LBN_HUMAN	K	750;670;750	ENSP00000339954:E750K;ENSP00000311683:E670K;ENSP00000342144:E750K	ENSP00000311683:E670K	E	-	1	0	EVC2	5675418	1.000000	0.71417	0.993000	0.49108	0.795000	0.44927	2.924000	0.48876	1.233000	0.43693	0.462000	0.41574	GAG		PASS	0.652	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		23	29	23	29	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5664932	5664932	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:5664932G>A	ENST00000344408.5	-	9	1100	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	EVC2_ENST00000310917.2_Silent_p.T269T|EVC2_ENST00000344938.1_Silent_p.T349T	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	349					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T349T(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CATCAGCTGAGGTGAACGGCA	0.483																																						uc003gij.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(1045-1047)ACC>ACT		limbin							134.0	130.0	132.0					4																	5664932		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5664932G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1047C>T	4.37:g.5664932G>A						EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.T269T	p.T349T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			9	1101	-			349					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.1047C>T	CCDS3382.2																																																																																				PASS	0.483	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		27	55	27	55	---	---	---	---
C4orf50	389197	broad.mit.edu	37	4	5966796	5966796	+	Silent	SNP	G	G	A	rs369927035		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:5966796G>A	ENST00000324058.5	-	6	623	c.534C>T	c.(532-534)ccC>ccT	p.P178P	C4orf50_ENST00000531445.1_Silent_p.P652P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	178								p.P178P(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACTCCGGCTCGGGAATAGGCC	0.473																																						uc003git.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(1)	3						c.(532-534)CCC>CCT		hypothetical protein LOC389197		G		0,4406		0,0,2203	74.0	77.0	76.0		534	-6.5	0.0	4		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C4orf50	XM_003118524.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		178/277	5966796	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5966796G>A	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.534C>T	4.37:g.5966796G>A							p.P178P	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			6	624	-			178						Silent	SNP	ENST00000324058.5	37	c.534C>T																																																																																					PASS	0.473	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		13	24	13	24	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6114460	6114460	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:6114460C>T	ENST00000282924.5	-	2	603	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E40K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E40K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E40K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E40K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	40	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E40K(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGCTTTTTTCCTGCTGGAAC	0.602																																						uc003giu.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(118-120)GAA>AAA		janus kinase and microtubule interacting protein							135.0	121.0	126.0					4																	6114460		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114460C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.118G>A	4.37:g.6114460C>T	ENSP00000282924:p.Glu40Lys					JAKMIP1_uc010idb.1_Missense_Mutation_p.E40K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E40K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E40K|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E40K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E40K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E40K	p.E40K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			2	394	-			40			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.118G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012726	0.93346	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.35789	3.18;1.29;3.18;3.18;1.29	3.79	3.79	0.43588	.	0.000000	0.64402	D	0.000007	T	0.61148	0.2324	M	0.80422	2.495	0.26378	N	0.976786	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996	D;D;D;D;D	0.77557	0.981;0.99;0.981;0.981;0.99	T	0.57774	-0.7753	10	0.87932	D	0	.	14.8273	0.70122	0.0:1.0:0.0:0.0	.	40;40;40;40;40	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	K	40	ENSP00000386711:E40K;ENSP00000387042:E40K;ENSP00000282924:E40K;ENSP00000386925:E40K;ENSP00000386745:E40K	ENSP00000282924:E40K	E	-	1	0	JAKMIP1	6165361	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.238000	0.78173	1.959000	0.56917	0.591000	0.81541	GAA		PASS	0.602	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		25	54	25	54	---	---	---	---
WFS1	7466	broad.mit.edu	37	4	6302909	6302909	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:6302909G>A	ENST00000226760.1	+	8	1557	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	WFS1_ENST00000503569.1_Missense_Mutation_p.V463I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	463			Missing (in WFS1). {ECO:0000269|PubMed:9817917}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.V463I(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGCCACCGAGGTCACCGCCGG	0.642																																						uc003giy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1387-1389)GTC>ATC		wolframin							88.0	74.0	79.0					4																	6302909		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302909G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1387G>A	4.37:g.6302909G>A	ENSP00000226760:p.Val463Ile					WFS1_uc003gix.2_Missense_Mutation_p.V463I|WFS1_uc003giz.2_Missense_Mutation_p.V281I	p.V463I	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1553	+			463		Missing (in WFS).			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1387G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	8.035	0.762647	0.15914	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.91686	-2.89;-2.89	4.77	4.77	0.60923	.	0.134279	0.48767	D	0.000175	D	0.88890	0.6560	L	0.52126	1.63	0.44762	D	0.997768	B	0.20671	0.047	B	0.21708	0.036	D	0.85621	0.1264	10	0.37606	T	0.19	-45.2701	12.3658	0.55228	0.0854:0.0:0.9146:0.0	.	463	O76024	WFS1_HUMAN	I	463	ENSP00000423337:V463I;ENSP00000226760:V463I	ENSP00000226760:V463I	V	+	1	0	WFS1	6353810	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	2.291000	0.43540	2.195000	0.70347	0.457000	0.33378	GTC		PASS	0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			27	35	27	35	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6925544	6925544	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:6925544C>A	ENST00000409757.4	+	2	552	c.428C>A	c.(427-429)cCg>cAg	p.P143Q	TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	143					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.P128Q(1)|p.P143Q(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTCTATAGCCCGACCTCCAAA	0.602																																						uc011bwg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(427-429)CCG>CAG		TBC1 domain family, member 14 isoform a							125.0	120.0	121.0					4																	6925544		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925544C>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.428C>A	4.37:g.6925544C>A	ENSP00000386921:p.Pro143Gln					TBC1D14_uc003gjs.3_Missense_Mutation_p.P143Q	p.P143Q	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			2	507	+			143					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.428C>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682468	0.68157	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.07114	3.22;3.22	4.73	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01532	-1.1331	9	.	.	.	-15.2022	12.1711	0.54160	0.0:0.9174:0.0:0.0826	.	143	Q9P2M4	TBC14_HUMAN	Q	143	ENSP00000404041:P143Q;ENSP00000386921:P143Q	.	P	+	2	0	TBC1D14	6976445	1.000000	0.71417	0.991000	0.47740	0.540000	0.34992	4.706000	0.61845	1.221000	0.43506	0.585000	0.79938	CCG		PASS	0.602	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		5	139	5	139	---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8108231	8108231	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:8108231G>A	ENST00000341937.5	-	2	208	c.144C>T	c.(142-144)ttC>ttT	p.F48F	ABLIM2_ENST00000546334.1_Silent_p.F48F|ABLIM2_ENST00000361581.5_Silent_p.F48F|ABLIM2_ENST00000447017.2_Silent_p.F48F|ABLIM2_ENST00000545242.1_Silent_p.F48F|ABLIM2_ENST00000428004.2_Silent_p.F48F|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361737.5_Silent_p.F48F|ABLIM2_ENST00000505872.1_Silent_p.F48F|ABLIM2_ENST00000407564.3_Silent_p.F48F|ABLIM2_ENST00000296372.8_Silent_p.F48F	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	48	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.F48F(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTTACAGACGAAGCACTTGA	0.627																																						uc003gko.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(3)	3						c.(142-144)TTC>TTT		actin binding LIM protein family, member 2							47.0	55.0	52.0					4																	8108231		2087	4196	6283	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8108231G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.144C>T	4.37:g.8108231G>A						ABLIM2_uc003gkj.3_Silent_p.F48F|ABLIM2_uc003gkm.3_Silent_p.F48F|ABLIM2_uc003gkp.2_Silent_p.F48F|ABLIM2_uc003gkq.2_Silent_p.F48F|ABLIM2_uc003gkr.2_Silent_p.F48F|ABLIM2_uc003gks.3_Silent_p.F48F|ABLIM2_uc011bwl.1_Silent_p.F53F	p.F48F	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			2	287	-			48			LIM zinc-binding 1.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.144C>T	CCDS47013.1																																																																																				PASS	0.627	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		3	4	3	4	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229801	8229801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:8229801C>T	ENST00000245105.3	+	12	2447	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.Q718*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	794								p.Q794*(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTTGGCCCAGCTGTACAG	0.672																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(2380-2382)CAG>TAG		SH3 domain and tetratricopeptide repeats 1							32.0	30.0	31.0					4																	8229801		2201	4299	6500	SO:0001587	stop_gained	54436						binding	g.chr4:8229801C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2380C>T	4.37:g.8229801C>T	ENSP00000245105:p.Gln794*					SH3TC1_uc003gkw.3_Nonsense_Mutation_p.Q718*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.Q794*	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	2481	+			794			TPR 4.		Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	c.2380C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064603	0.93898	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.14	3.27	0.37495	.	0.721746	0.13103	N	0.413624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4231	9.9995	0.41920	0.1356:0.6932:0.1712:0.0	.	.	.	.	X	532;794;718;623	.	ENSP00000245105:Q794X	Q	+	1	0	SH3TC1	8280701	0.005000	0.15991	0.910000	0.35882	0.178000	0.23041	1.424000	0.34848	1.825000	0.53177	0.462000	0.41574	CAG		PASS	0.672	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		8	13	8	13	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784494	9784494	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:9784494G>A	ENST00000304374.2	+	1	1237	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	281					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D281N(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGCGCGCCCGACACCAGCCT	0.632																																						uc003gmb.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(841-843)GAC>AAC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						27.0	26.0	27.0					4																	9784494		2145	4237	6382	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784494G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.841G>A	4.37:g.9784494G>A	ENSP00000306129:p.Asp281Asn						p.D281N	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1237	+			281			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.841G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	9.675	1.147721	0.21288	.	.	ENSG00000169676	ENST00000304374	T	0.65916	-0.18	4.31	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.240475	0.41605	N	0.000850	T	0.41026	0.1141	N	0.21448	0.665	0.09310	N	1	B	0.26400	0.148	B	0.24541	0.054	T	0.18272	-1.0342	10	0.22109	T	0.4	.	8.0537	0.30593	0.1046:0.5317:0.3636:0.0	.	281	P21918	DRD5_HUMAN	N	281	ENSP00000306129:D281N	ENSP00000306129:D281N	D	+	1	0	DRD5	9393592	0.976000	0.34144	0.001000	0.08648	0.568000	0.35870	2.185000	0.42584	0.420000	0.25954	0.305000	0.20034	GAC		PASS	0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			11	33	11	33	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784694	9784694	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:9784694C>T	ENST00000304374.2	+	1	1437	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	347					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.F347F(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCGTCTGGTTCGGCTGGGCTA	0.602																																						uc003gmb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1039-1041)TTC>TTT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						90.0	88.0	88.0					4																	9784694		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784694C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1041C>T	4.37:g.9784694C>T							p.F347F	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1437	+			347			Helical; Name=7; (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.1041C>T	CCDS3405.1																																																																																				PASS	0.602	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			24	56	24	56	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784866	9784866	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:9784866G>A	ENST00000304374.2	+	1	1609	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	405					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.E405K(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCCACAAGGAAATCGCAGC	0.587																																						uc003gmb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1213-1215)GAA>AAA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						96.0	78.0	85.0					4																	9784866		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784866G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1213G>A	4.37:g.9784866G>A	ENSP00000306129:p.Glu405Lys						p.E405K	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1609	+			405			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1213G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	12.99	2.101984	0.37048	.	.	ENSG00000169676	ENST00000304374	T	0.66099	-0.19	4.73	3.89	0.44902	.	0.256046	0.37219	N	0.002186	T	0.56572	0.1994	M	0.64567	1.98	0.47374	D	0.9994	P	0.39060	0.657	B	0.35182	0.197	T	0.59397	-0.7462	10	0.45353	T	0.12	.	12.1906	0.54268	0.0822:0.0:0.9178:0.0	.	405	P21918	DRD5_HUMAN	K	405	ENSP00000306129:E405K	ENSP00000306129:E405K	E	+	1	0	DRD5	9393964	1.000000	0.71417	0.154000	0.22540	0.307000	0.27823	5.159000	0.64923	1.215000	0.43411	0.460000	0.39030	GAA		PASS	0.587	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			22	27	22	27	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525491	20525491	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:20525491G>A	ENST00000504154.1	+	13	1491	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	SLIT2_ENST00000503823.1_Silent_p.K413K|SLIT2_ENST00000273739.5_Silent_p.K417K|SLIT2_ENST00000503837.1_Silent_p.K417K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	413					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.K413K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCATCGCCAAGGGGACCTTTT	0.428																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1237-1239)AAG>AAA		slit homolog 2 precursor							173.0	160.0	165.0					4																	20525491		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525491G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1239G>A	4.37:g.20525491G>A						SLIT2_uc003gps.1_Silent_p.K413K	p.K413K	NM_004787	NP_004778	O94813	SLIT2_HUMAN			13	1443	+			413			LRR 11.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.1239G>A	CCDS3426.1																																																																																				PASS	0.428	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			40	99	40	99	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525678	20525678	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:20525678A>T	ENST00000504154.1	+	14	1568	c.1316A>T	c.(1315-1317)aAg>aTg	p.K439M	SLIT2_ENST00000503823.1_Missense_Mutation_p.K439M|SLIT2_ENST00000273739.5_Missense_Mutation_p.K443M|SLIT2_ENST00000503837.1_Missense_Mutation_p.K443M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	439	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.K439M(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCCATCTCAAGTGGCTAGCG	0.483																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1315-1317)AAG>ATG		slit homolog 2 precursor							111.0	116.0	114.0					4																	20525678		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525678A>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1316A>T	4.37:g.20525678A>T	ENSP00000422591:p.Lys439Met					SLIT2_uc003gps.1_Missense_Mutation_p.K439M	p.K439M	NM_004787	NP_004778	O94813	SLIT2_HUMAN			14	1520	+			439			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1316A>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774151	0.90108	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.81	5.81	0.92471	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	L	0.42581	1.335	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69142	0.951;0.962	T	0.34254	-0.9836	10	0.87932	D	0	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	439;439	O94813-3;O94813	.;SLIT2_HUMAN	M	439;439;443;443;443	ENSP00000427548:K439M;ENSP00000422591:K439M;ENSP00000273739:K443M;ENSP00000422261:K443M	ENSP00000273739:K443M	K	+	2	0	SLIT2	20134776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.216000	0.71823	0.533000	0.62120	AAG		PASS	0.483	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			26	53	26	53	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20619197	20619197	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:20619197G>A	ENST00000504154.1	+	36	4524	c.4272G>A	c.(4270-4272)ggG>ggA	p.G1424G	SLIT2_ENST00000503823.1_Silent_p.G1416G|SLIT2_ENST00000273739.5_Silent_p.G1437G|SLIT2_ENST00000503837.1_Silent_p.G1420G	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1424					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.G1424G(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAGCATGGGAAGTGCAGGC	0.567																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4270-4272)GGG>GGA		slit homolog 2 precursor							97.0	83.0	88.0					4																	20619197		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619197G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4272G>A	4.37:g.20619197G>A						SLIT2_uc003gps.1_Silent_p.G1416G	p.G1424G	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4476	+			1424					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.4272G>A	CCDS3426.1																																																																																				PASS	0.567	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			11	19	11	19	---	---	---	---
KCNIP4	80333	broad.mit.edu	37	4	21699022	21699022	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:21699022C>T	ENST00000382152.2	-	1	229				KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382148.3_Silent_p.L13L|RP11-556G22.2_ENST00000511835.1_RNA	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L13L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GGGCAAATTTCAGTATTTCAC	0.348																																						uc003gqh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)CTG>CTA		Kv channel interacting protein 4 isoform 5							129.0	120.0	123.0					4																	21699022		1838	4094	5932	SO:0001627	intron_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:21699022C>T	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.61+251171G>A	4.37:g.21699022C>T						KCNIP4_uc003gqi.1_Intron	p.L13L	NM_001035003	NP_001030175	Q6PIL6	KCIP4_HUMAN			1	297	-		Breast(46;0.134)	Error:Variant_position_missing_in_Q6PIL6_after_alignment					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	c.39G>A	CCDS43216.1																																																																																				PASS	0.348	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		21	35	21	35	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749332	22749332	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:22749332C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.P234S(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAGCAGATCCCAACTCAGT	0.433																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)CCC>TCC		cytosolic beta-glucosidase isoform a							149.0	147.0	148.0					4																	22749332		1903	4107	6010			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749332C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749332C>T						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P235S	p.P234S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	791	+			234					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.700C>T																																																																																					PASS	0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			45	116	45	116	---	---	---	---
ANAPC4	29945	broad.mit.edu	37	4	25416277	25416277	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:25416277C>T	ENST00000315368.3	+	25	1923	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.S595L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	594					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.S594L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTAGAAGATTCACTTTATAAA	0.234																																						uc003gro.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(1780-1782)TCA>TTA		anaphase-promoting complex subunit 4							22.0	23.0	23.0					4																	25416277		2058	4161	6219	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25416277C>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1781C>T	4.37:g.25416277C>T	ENSP00000318775:p.Ser594Leu					ANAPC4_uc003grp.2_Missense_Mutation_p.S480L|ANAPC4_uc003grq.2_Missense_Mutation_p.S47L	p.S594L	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			25	1910	+		Breast(46;0.0503)	594					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.1781C>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797833	0.50208	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.37235	1.22;1.21	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.62723	1.935	0.80722	D	1	B	0.31100	0.308	B	0.30029	0.11	T	0.14755	-1.0461	10	0.22109	T	0.4	-17.468	20.1813	0.98205	0.0:1.0:0.0:0.0	.	594	Q9UJX5	APC4_HUMAN	L	594;595	ENSP00000318775:S594L;ENSP00000426654:S595L	ENSP00000318775:S594L	S	+	2	0	ANAPC4	25025375	1.000000	0.71417	0.999000	0.59377	0.456000	0.32438	5.003000	0.63959	2.763000	0.94921	0.585000	0.79938	TCA		PASS	0.234	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		8	16	8	16	---	---	---	---
SEL1L3	23231	broad.mit.edu	37	4	25819808	25819808	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:25819808T>G	ENST00000399878.3	-	9	1638	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K471Q|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K353Q	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	506						integral component of membrane (GO:0016021)		p.K353Q(1)|p.K506Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGGGGTGTTTGTCTTTCAGC	0.557																																						uc003gru.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1516-1518)AAA>CAA		sel-1 suppressor of lin-12-like 3							75.0	77.0	76.0					4																	25819808		1976	4164	6140	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25819808T>G	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1516A>C	4.37:g.25819808T>G	ENSP00000382767:p.Lys506Gln						p.K506Q	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			9	1668	-			506					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1516A>C	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	7.505	0.653515	0.14580	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15603	2.61;2.62;2.41	5.95	0.578	0.17391	.	0.716122	0.14242	N	0.332036	T	0.15219	0.0367	L	0.48642	1.525	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.25328	-1.0135	10	0.23891	T	0.37	-4.6343	13.2654	0.60131	0.0:0.0:0.561:0.439	.	506	Q68CR1	SE1L3_HUMAN	Q	506;471;353	ENSP00000382767:K506Q;ENSP00000264868:K471Q;ENSP00000425438:K353Q	ENSP00000264868:K471Q	K	-	1	0	SEL1L3	25428906	0.017000	0.18338	0.000000	0.03702	0.283000	0.27025	0.634000	0.24614	-0.112000	0.11979	0.533000	0.62120	AAA		PASS	0.557	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		13	26	13	26	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38091726	38091726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:38091726C>T	ENST00000261439.4	+	13	2579	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q836*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	742					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.Q742*(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAAGGAAAATCAGAAGCTCCA	0.438																																						uc003gtb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2224-2226)CAG>TAG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							80.0	74.0	76.0					4																	38091726		2203	4300	6503	SO:0001587	stop_gained	23216					nucleus	Rab GTPase activator activity	g.chr4:38091726C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2224C>T	4.37:g.38091726C>T	ENSP00000261439:p.Gln742*					TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q836*|TBC1D1_uc010ifd.2_Nonsense_Mutation_p.Q529*|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q613*	p.Q742*	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			13	2567	+			742					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Nonsense_Mutation	SNP	ENST00000261439.4	37	c.2224C>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.230372|4.230372	0.79688|0.79688	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732;ENST00000421339|ENST00000510573	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.56097|.	D|.	0.000024|.	.|T	.|0.77025	.|0.4070	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74140	.|-0.3761	.|4	0.22706|.	T|.	0.39|.	-31.6295|-31.6295	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	836;742;6;223|429	.|.	ENSP00000261439:Q742X|.	Q|S	+|+	1|2	0|0	TBC1D1|TBC1D1	37768121|37768121	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	7.057000|7.057000	0.76669|0.76669	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.438	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		28	50	28	50	---	---	---	---
TLR10	81793	broad.mit.edu	37	4	38775613	38775613	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:38775613G>A	ENST00000308973.4	-	4	2204	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Silent_p.F533F|TLR10_ENST00000508334.1_Silent_p.F533F|TLR10_ENST00000506111.1_Silent_p.F533F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	533	LRRCT.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.F533F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CAAGCTGAATGAAATTTTTTA	0.403																																						uc003gti.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(1597-1599)TTC>TTT		toll-like receptor 10 precursor							81.0	82.0	82.0					4																	38775613		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775613G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1599C>T	4.37:g.38775613G>A						TLR10_uc003gtj.2_Silent_p.F533F|TLR10_uc003gtk.2_Silent_p.F533F	p.F533F	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1978	-			533			Extracellular (Potential).|LRRCT.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.1599C>T	CCDS3445.1																																																																																				PASS	0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			16	55	16	55	---	---	---	---
TMEM156	80008	broad.mit.edu	37	4	38990513	38990513	+	Missense_Mutation	SNP	G	G	T	rs370274406		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:38990513G>T	ENST00000381938.3	-	4	804	c.697C>A	c.(697-699)Cgc>Agc	p.R233S		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral component of membrane (GO:0016021)		p.R233S(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTATTTTGCGGATAGTGAGG	0.353																																						uc003gto.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(697-699)CGC>AGC		transmembrane protein 156							139.0	140.0	140.0					4																	38990513		2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:38990513G>T	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.697C>A	4.37:g.38990513G>T	ENSP00000371364:p.Arg233Ser					TMEM156_uc010ifj.2_Missense_Mutation_p.R233S	p.R233S	NM_024943	NP_079219	Q8N614	TM156_HUMAN			4	805	-			233			Cytoplasmic (Potential).		Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.697C>A	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	3.371	-0.128415	0.06753	.	.	ENSG00000121895	ENST00000381938	T	0.22743	1.94	5.51	-7.83	0.01201	.	1.202610	0.05548	N	0.566930	T	0.11580	0.0282	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.25950	-1.0117	10	0.24483	T	0.36	2.5177	8.1739	0.31270	0.6056:0.0:0.1973:0.1971	.	233	Q8N614	TM156_HUMAN	S	233	ENSP00000371364:R233S	ENSP00000371364:R233S	R	-	1	0	TMEM156	38666908	0.058000	0.20735	0.005000	0.12908	0.017000	0.09413	-0.524000	0.06222	-2.457000	0.00539	-2.048000	0.00412	CGC		PASS	0.353	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		5	138	5	138	---	---	---	---
KLB	152831	broad.mit.edu	37	4	39409003	39409003	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:39409003G>A	ENST00000257408.4	+	1	531	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	145	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G145E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GATTTTATAGGAGTTTCTTTT	0.393																																						uc003gua.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(433-435)GGA>GAA		klotho beta							82.0	91.0	88.0					4																	39409003		2203	4298	6501	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39409003G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.434G>A	4.37:g.39409003G>A	ENSP00000257408:p.Gly145Glu					KLB_uc011byj.1_Missense_Mutation_p.G145E	p.G145E	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			1	531	+			145			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.434G>A	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394010	0.83011	.	.	ENSG00000134962	ENST00000257408	T	0.55052	0.54	4.7	4.7	0.59300	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.96576	3.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88986	0.3411	10	0.72032	D	0.01	-15.1492	17.611	0.88053	0.0:0.0:1.0:0.0	.	145;145	B7ZL50;Q86Z14	.;KLOTB_HUMAN	E	145	ENSP00000257408:G145E	ENSP00000257408:G145E	G	+	2	0	KLB	39085398	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	9.869000	0.99810	2.152000	0.67230	0.467000	0.42956	GGA		PASS	0.393	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		35	83	35	83	---	---	---	---
RHOH	399	broad.mit.edu	37	4	40245121	40245121	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:40245121G>A	ENST00000381799.5	+	3	839	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RHOH_ENST00000505618.1_Missense_Mutation_p.E39K	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	39					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.E39K(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CACAGTGTACGAGAACACAGG	0.607																																						uc003guz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(115-117)GAG>AAG		ras homolog gene family, member H precursor							145.0	117.0	127.0					4																	40245121		2203	4300	6503	SO:0001583	missense	399				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding	g.chr4:40245121G>A	Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.115G>A	4.37:g.40245121G>A	ENSP00000371219:p.Glu39Lys						p.E39K	NM_004310	NP_004301	Q15669	RHOH_HUMAN			3	839	+			39			Effector region (By similarity).			Missense_Mutation	SNP	ENST00000381799.5	37	c.115G>A	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.796319	0.90453	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.65	5.65	0.86999	Small GTP-binding protein domain (1);	0.052864	0.85682	D	0.000000	D	0.84826	0.5558	M	0.88450	2.955	0.80722	D	1	D	0.55385	0.971	P	0.45753	0.492	D	0.88279	0.2935	10	0.87932	D	0	.	19.7124	0.96100	0.0:0.0:1.0:0.0	.	39	Q15669	RHOH_HUMAN	K	39	ENSP00000425010:E39K;ENSP00000423384:E39K;ENSP00000426439:E39K;ENSP00000371219:E39K	ENSP00000371219:E39K	E	+	1	0	RHOH	39921516	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	9.476000	0.97823	2.655000	0.90218	0.591000	0.81541	GAG		PASS	0.607	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310		24	48	24	48	---	---	---	---
APBB2	323	broad.mit.edu	37	4	40832492	40832492	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:40832492C>T	ENST00000295974.8	-	13	2258	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	APBB2_ENST00000508593.1_Silent_p.E544E|APBB2_ENST00000513140.1_Silent_p.E522E|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000504305.1_5'UTR|APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000506352.1_Silent_p.E522E	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	543	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.E522E(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGAGCAGATCTCGTGGAGAC	0.463																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1627-1629)GAG>GAA		amyloid beta A4 precursor protein-binding,							115.0	112.0	113.0					4																	40832492		1978	4149	6127	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40832492C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1629G>A	4.37:g.40832492C>T						APBB2_uc010ifu.2_Silent_p.E115E|APBB2_uc003gvm.2_Silent_p.E522E|APBB2_uc003gvn.2_Silent_p.E544E|APBB2_uc003gvk.2_5'UTR	p.E543E	NM_173075	NP_775098	Q92870	APBB2_HUMAN			13	2259	-			543			PID 1.		B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.1629G>A	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.165|3.165	-0.171337|-0.171337	0.06421|0.06421	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000513493	.|.	.|.	.|.	5.59|5.59	-1.89|-1.89	0.07689|0.07689	.|.	.|.	.|.	.|.	.|.	T|T	0.50309|0.50309	0.1608|0.1608	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43310|0.43310	-0.9399|-0.9399	4|4	.|.	.|.	.|.	-25.5848|-25.5848	6.1156|6.1156	0.20124|0.20124	0.0:0.2736:0.123:0.6034|0.0:0.2736:0.123:0.6034	.|.	.|.	.|.	.|.	N|K	513|82	.|.	.|.	D|R	-|-	1|2	0|0	APBB2|APBB2	40527249|40527249	0.993000|0.993000	0.37304|0.37304	0.997000|0.997000	0.53966|0.53966	0.400000|0.400000	0.30750|0.30750	0.258000|0.258000	0.18387|0.18387	-0.127000|-0.127000	0.11661|0.11661	-0.423000|-0.423000	0.05987|0.05987	GAT|AGA		PASS	0.463	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		13	34	13	34	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42119665	42119665	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:42119665C>T	ENST00000502486.1	-	6	2054	c.1475G>A	c.(1474-1476)gGt>gAt	p.G492D	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	492	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.G488D(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCGGGCGTGACCGACAGCGTC	0.522																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)GGT>GAT		BEN domain containing 4 isoform a							38.0	37.0	37.0					4																	42119665		1848	4090	5938	SO:0001583	missense	389206							g.chr4:42119665C>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1475G>A	4.37:g.42119665C>T	ENSP00000421169:p.Gly492Asp					BEND4_uc003gwm.2_3'UTR	p.G492D	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			6	2055	-			492			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1475G>A	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212704	0.95069	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	.	.	.	5.41	5.41	0.78517	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70934	-0.4737	9	0.87932	D	0	-16.4781	19.5583	0.95363	0.0:1.0:0.0:0.0	.	492	Q6ZU67	BEND4_HUMAN	D	363;492	.	ENSP00000412495:G363D	G	-	2	0	BEND4	41814422	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.445000	0.80570	2.691000	0.91804	0.561000	0.74099	GGT		PASS	0.522	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		4	17	4	17	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895559	42895559	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:42895559T>C	ENST00000399770.2	+	1	276	c.276T>C	c.(274-276)ttT>ttC	p.F92F	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	92					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.F92L(1)|p.F92F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGAAGGGTTTTGGTACAAGAA	0.448																																						uc003gwt.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|skin(1)	ovary(1)	1						c.(274-276)TTT>TTC		glutaredoxin, cysteine rich 1							128.0	133.0	131.0					4																	42895559		2001	4176	6177	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895559T>C		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.276T>C	4.37:g.42895559T>C							p.F92F	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	276	+			92						Silent	SNP	ENST00000399770.2	37	c.276T>C	CCDS43225.1																																																																																				PASS	0.448	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		37	72	37	72	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46066475	46066475	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:46066475G>A	ENST00000295452.4	-	5	775	c.608C>T	c.(607-609)cCa>cTa	p.P203L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	203					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P203L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATTCCAGTGGACAGGAATG	0.269																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(607-609)CCA>CTA		gamma-aminobutyric acid A receptor, gamma 1							67.0	75.0	72.0					4																	46066475		2202	4288	6490	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46066475G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.608C>T	4.37:g.46066475G>A	ENSP00000295452:p.Pro203Leu						p.P203L	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	5	760	-			203			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.608C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801424	0.90538	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78924	-1.22	5.8	5.8	0.92144	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88789	0.3276	10	0.72032	D	0.01	.	19.0345	0.92971	0.0:0.0:1.0:0.0	.	203	Q8N1C3	GBRG1_HUMAN	L	203	ENSP00000295452:P203L	ENSP00000295452:P203L	P	-	2	0	GABRG1	45761232	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.895000	0.87343	2.729000	0.93468	0.561000	0.74099	CCA		PASS	0.269	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		22	39	22	39	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252353	46252353	+	Missense_Mutation	SNP	C	C	T	rs200987678		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:46252353C>T	ENST00000510861.1	-	10	1501	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	GABRA2_ENST00000540012.1_Missense_Mutation_p.R448K|GABRA2_ENST00000507069.1_Missense_Mutation_p.R503K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R443K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R443K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R443K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	443					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R443K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACAGGTTCTCTGTTTAAATA	0.348																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1327-1329)AGA>AAA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						80.0	86.0	84.0					4																	46252353		2202	4294	6496	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252353C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1328G>A	4.37:g.46252353C>T	ENSP00000421828:p.Arg443Lys					GABRA2_uc010igc.2_Missense_Mutation_p.R443K|GABRA2_uc011bzc.1_Missense_Mutation_p.R448K	p.R443K	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	2001	-			443					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1328G>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376479	0.42105	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;-1.56;-0.5	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	N	0.26130	0.795	0.58432	D	0.999998	B;B	0.31599	0.33;0.018	B;B	0.28784	0.094;0.015	T	0.70135	-0.4955	10	0.19590	T	0.45	.	19.1413	0.93446	0.0:1.0:0.0:0.0	.	448;443	B7Z1H8;P47869	.;GBRA2_HUMAN	K	443;443;443;443;448;503	ENSP00000421828:R443K;ENSP00000421300:R443K;ENSP00000371033:R443K;ENSP00000348897:R443K;ENSP00000444409:R448K;ENSP00000427603:R503K	ENSP00000348897:R443K	R	-	2	0	GABRA2	45947110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.767000	0.95098	0.655000	0.94253	AGA		PASS	0.348	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			37	38	37	38	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559988	47559988	+	Missense_Mutation	SNP	C	C	T	rs143517951		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:47559988C>T	ENST00000273859.3	+	12	2401	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	711					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S711F(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGGCAGAGTCCCTCCCTGGA	0.572																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2131-2133)TCC>TTC		ATPase, class V, type 10D		C	PHE/SER	0,4406		0,0,2203	61.0	56.0	58.0		2132	4.4	0.0	4	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	missense	ATP10D	NM_020453.3	155	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	711/1427	47559988	2,13004	2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559988C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2132C>T	4.37:g.47559988C>T	ENSP00000273859:p.Ser711Phe					ATP10D_uc003gxl.1_Intron	p.S711F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			12	2296	+			711			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.2132C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897416	0.52121	0.0	2.33E-4	ENSG00000145246	ENST00000273859	T	0.40225	1.04	5.24	4.4	0.53042	HAD-like domain (1);	1.030280	0.07600	N	0.923520	T	0.54598	0.1868	M	0.68317	2.08	0.35216	D	0.775612	P	0.35155	0.487	B	0.43916	0.436	T	0.56613	-0.7950	10	0.56958	D	0.05	-0.3603	13.4944	0.61416	0.0:0.8438:0.1562:0.0	.	711	Q9P241	AT10D_HUMAN	F	711	ENSP00000273859:S711F	ENSP00000273859:S711F	S	+	2	0	ATP10D	47254745	0.005000	0.15991	0.003000	0.11579	0.004000	0.04260	2.086000	0.41643	1.436000	0.47453	0.561000	0.74099	TCC		PASS	0.572	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		12	35	12	35	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47682236	47682236	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:47682236C>T	ENST00000273857.4	-	8	1053	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	CORIN_ENST00000502252.1_Missense_Mutation_p.D285N|CORIN_ENST00000508498.1_Missense_Mutation_p.D213N|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000504584.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	352	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.D352N(1)|p.D352H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCGCCCGTCCCCGCAGCGA	0.542																																						uc003gxm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1054-1056)GAC>AAC		corin							113.0	87.0	96.0					4																	47682236		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682236C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1054G>A	4.37:g.47682236C>T	ENSP00000273857:p.Asp352Asn					CORIN_uc011bzf.1_Missense_Mutation_p.D213N|CORIN_uc011bzg.1_Missense_Mutation_p.D285N|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	p.D352N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			8	1147	-			352			Extracellular (Potential).|LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1054G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394928	0.83011	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.95342	-3.68;-3.68;-3.68	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	N	0.03324	-0.35	0.80722	D	1	P;P	0.46656	0.882;0.808	P;P	0.59288	0.855;0.647	D	0.90796	0.4690	10	0.20046	T	0.44	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	285;352	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	N	352;213;285	ENSP00000273857:D352N;ENSP00000425597:D213N;ENSP00000424212:D285N	ENSP00000273857:D352N	D	-	1	0	CORIN	47376993	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.259000	0.65485	2.803000	0.96430	0.585000	0.79938	GAC		PASS	0.542	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	27	4	27	---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47942791	47942791	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:47942791C>T	ENST00000514170.1	-	10	972	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CNGA1_ENST00000402813.3_Missense_Mutation_p.R287Q|CNGA1_ENST00000358519.4_Missense_Mutation_p.R218Q|CNGA1_ENST00000420489.2_Missense_Mutation_p.R218Q|CNGA1_ENST00000544810.1_Missense_Mutation_p.R218Q			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	218					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R218Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTCCTTGTTCGTACAAACAT	0.294																																						uc003gxt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)CGA>CAA		cyclic nucleotide gated channel alpha 1 isoform							69.0	65.0	66.0					4																	47942791		1824	4072	5896	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47942791C>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.653G>A	4.37:g.47942791C>T	ENSP00000426862:p.Arg218Gln					uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R287Q	p.R218Q	NM_000087	NP_000078	P29973	CNGA1_HUMAN			10	919	-			218			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.653G>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202629	0.38905	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.53	5.53	0.82687	Ion transport (1);	0.061993	0.64402	D	0.000006	D	0.95799	0.8633	L	0.47190	1.495	0.53005	D	0.999968	P;P	0.43412	0.806;0.806	B;B	0.34452	0.183;0.183	D	0.95321	0.8420	10	0.15066	T	0.55	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	218;218	Q4W5E3;P29973	.;CNGA1_HUMAN	Q	287;218;218;218;218	ENSP00000384264:R287Q;ENSP00000426862:R218Q;ENSP00000443401:R218Q;ENSP00000351320:R218Q;ENSP00000389881:R218Q	ENSP00000351320:R218Q	R	-	2	0	CNGA1	47637548	1.000000	0.71417	0.997000	0.53966	0.079000	0.17450	7.487000	0.81328	2.594000	0.87642	0.655000	0.94253	CGA		PASS	0.294	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		12	28	12	28	---	---	---	---
TXK	7294	broad.mit.edu	37	4	48073677	48073677	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:48073677C>T	ENST00000264316.4	-	14	1457	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	TXK_ENST00000507351.1_Missense_Mutation_p.E113K	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.E458K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTAAAAACTTCCCACATTAAA	0.388																																						uc003gxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)GAA>AAA		TXK tyrosine kinase							74.0	81.0	79.0					4																	48073677		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48073677C>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1372G>A	4.37:g.48073677C>T	ENSP00000264316:p.Glu458Lys					TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.E145K	p.E458K	NM_003328	NP_003319	P42681	TXK_HUMAN			14	1458	-			458			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.1372G>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179531	0.94846	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.94576	-3.46;-3.46	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.99800	4.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	D	0.99066	1.0832	10	0.87932	D	0	.	18.4504	0.90702	0.0:1.0:0.0:0.0	.	145;458	B4DTB5;P42681	.;TXK_HUMAN	K	458;113	ENSP00000264316:E458K;ENSP00000423481:E113K	ENSP00000264316:E458K	E	-	1	0	TXK	47768434	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.388	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		34	93	34	93	---	---	---	---
TXK	7294	broad.mit.edu	37	4	48088613	48088613	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:48088613C>T	ENST00000264316.4	-	10	911	c.826G>A	c.(826-828)Gag>Aag	p.E276K	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.E276K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTTCCAATCTCCTTTATAAAA	0.408																																						uc003gxx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)GAG>AAG		TXK tyrosine kinase							132.0	114.0	120.0					4																	48088613		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48088613C>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.826G>A	4.37:g.48088613C>T	ENSP00000264316:p.Glu276Lys						p.E276K	NM_003328	NP_003319	P42681	TXK_HUMAN			10	912	-			276			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.826G>A	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370694	0.42003	.	.	ENSG00000074966	ENST00000264316	T	0.61158	0.13	5.14	2.28	0.28536	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.311145	0.29791	N	0.011197	T	0.29458	0.0734	N	0.04787	-0.16	0.80722	D	1	B	0.15473	0.013	B	0.26864	0.074	T	0.19910	-1.0291	10	0.02654	T	1	.	8.7873	0.34830	0.0:0.635:0.2827:0.0823	.	276	P42681	TXK_HUMAN	K	276	ENSP00000264316:E276K	ENSP00000264316:E276K	E	-	1	0	TXK	47783370	1.000000	0.71417	0.978000	0.43139	0.207000	0.24258	3.890000	0.56220	0.346000	0.23899	0.650000	0.86243	GAG		PASS	0.408	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		14	37	14	37	---	---	---	---
TEC	7006	broad.mit.edu	37	4	48169961	48169961	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:48169961G>A	ENST00000381501.3	-	7	662	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	169					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P169S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTGGTGGGGGAGGCCTTCGC	0.383																																						uc003gxz.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(505-507)CCC>TCC		tec protein tyrosine kinase							120.0	117.0	118.0					4																	48169961		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48169961G>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.505C>T	4.37:g.48169961G>A	ENSP00000370912:p.Pro169Ser						p.P169S	NM_003215	NP_003206	P42680	TEC_HUMAN			7	596	-			169					B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.505C>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	G	9.917	1.211189	0.22289	.	.	ENSG00000135605	ENST00000381501	T	0.18338	2.22	5.71	5.71	0.89125	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.14661	0.345	0.46356	D	0.999007	D	0.57899	0.981	P	0.52109	0.69	T	0.04678	-1.0934	10	0.08179	T	0.78	.	18.0269	0.89272	0.0:0.0:1.0:0.0	.	169	P42680	TEC_HUMAN	S	169	ENSP00000370912:P169S	ENSP00000370912:P169S	P	-	1	0	TEC	47864718	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.562000	0.82300	2.710000	0.92621	0.491000	0.48974	CCC		PASS	0.383	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			35	48	35	48	---	---	---	---
OCIAD2	132299	broad.mit.edu	37	4	48906512	48906512	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:48906512G>A	ENST00000508632.1	-	2	287	c.55C>T	c.(55-57)Cca>Tca	p.P19S	OCIAD2_ENST00000273860.4_Missense_Mutation_p.P19S|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	19	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)		p.P19S(1)		kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TGCTTGCTTGGTGGTGGAAAA	0.453																																						uc003gyt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)CCA>TCA		OCIA domain containing 2 isoform 1							204.0	188.0	193.0					4																	48906512		2203	4300	6503	SO:0001583	missense	132299					endosome		g.chr4:48906512G>A	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.55C>T	4.37:g.48906512G>A	ENSP00000423014:p.Pro19Ser					OCIAD2_uc003gyu.2_Missense_Mutation_p.P19S	p.P19S	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN			2	258	-			19			OCIA.		B4DPE7|Q8N544	Missense_Mutation	SNP	ENST00000508632.1	37	c.55C>T	CCDS33981.1	.	.	.	.	.	.	.	.	.	.	G	2.682	-0.275048	0.05679	.	.	ENSG00000145247	ENST00000508632;ENST00000273860;ENST00000381464	T;T;T	0.40476	1.03;1.03;1.03	4.1	4.1	0.47936	.	1.525270	0.04636	N	0.404556	T	0.35740	0.0942	L	0.36672	1.1	0.28397	N	0.918838	B;P	0.35208	0.065;0.49	B;B	0.30316	0.038;0.114	T	0.20338	-1.0278	9	.	.	.	0.0086	12.0222	0.53350	0.0:0.0:1.0:0.0	.	19;19	Q56VL3-2;Q56VL3	.;OCAD2_HUMAN	S	19	ENSP00000423014:P19S;ENSP00000273860:P19S;ENSP00000370873:P19S	.	P	-	1	0	OCIAD2	48601269	0.173000	0.23056	0.733000	0.30861	0.381000	0.30169	1.000000	0.29770	2.272000	0.75746	0.591000	0.81541	CCA		PASS	0.453	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		21	53	21	53	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49052864	49052864	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:49052864C>T	ENST00000226432.4	+	15	2202	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	CWH43_ENST00000513409.1_Silent_p.P646P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	673					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.P673P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATTTTAATCCCAGGTGAGTTC	0.383																																						uc003gyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2017-2019)CCC>CCT		cell wall biogenesis 43 C-terminal homolog							36.0	37.0	36.0					4																	49052864		2200	4300	6500	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49052864C>T		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.2019C>T	4.37:g.49052864C>T						CWH43_uc011bzl.1_Silent_p.P646P	p.P673P	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			15	2201	+			673					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.2019C>T	CCDS3486.1																																																																																				PASS	0.383	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		11	27	11	27	---	---	---	---
USP46	64854	broad.mit.edu	37	4	53476783	53476783	+	Splice_Site	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:53476783C>G	ENST00000441222.3	-	5	746	c.562G>C	c.(562-564)Gtt>Ctt	p.V188L	USP46_ENST00000508499.1_Splice_Site_p.V181L|USP46_ENST00000451218.2_Splice_Site_p.V161L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	188	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V188L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTGCTACTAACCTGAAACAAA	0.343																																						uc003gzn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)GTT>CTT		ubiquitin specific peptidase 46 isoform 1							61.0	57.0	58.0					4																	53476783		1946	4169	6115	SO:0001630	splice_region_variant	64854				behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr4:53476783C>G	AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.562-1G>C	4.37:g.53476783C>G						USP46_uc003gzm.3_Missense_Mutation_p.V181L|USP46_uc011bzr.1_Missense_Mutation_p.V165L|USP46_uc011bzs.1_Missense_Mutation_p.V72L	p.V188L	NM_022832	NP_073743	P62068	UBP46_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0295)		5	747	-			188					B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	c.562G>C	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498279	0.64186	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.32753	1.44;1.44;1.44	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.53938	D	0.000051	T	0.50377	0.1612	M	0.87617	2.895	0.80722	D	1	B;B;B;B	0.27117	0.168;0.073;0.083;0.067	B;B;B;B	0.37480	0.251;0.187;0.21;0.133	T	0.53507	-0.8429	10	0.59425	D	0.04	-8.7422	18.8634	0.92281	0.0:1.0:0.0:0.0	.	72;176;188;181	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	L	188;161;181	ENSP00000407818:V188L;ENSP00000390102:V161L;ENSP00000423244:V181L	ENSP00000407818:V188L	V	-	1	0	USP46	53171540	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.079000	0.71291	2.699000	0.92147	0.591000	0.81541	GTT		PASS	0.343	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	Missense_Mutation	15	17	15	17	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54440061	54440061	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:54440061C>T	ENST00000263925.7	-	2	423	c.109G>A	c.(109-111)Gat>Aat	p.D37N	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000504605.1_5'Flank	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	37					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D37N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGAGGTCATCATCCACTTCC	0.572																																						uc003hag.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(109-111)GAT>AAT		ligand of numb-protein X 1 isoform a							42.0	39.0	40.0					4																	54440061		1568	3582	5150	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54440061C>T	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.109G>A	4.37:g.54440061C>T	ENSP00000263925:p.Asp37Asn					PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA	p.D37N	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		2	365	-	all_neural(26;0.153)		37					Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.109G>A	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804588	0.90623	.	.	ENSG00000072201	ENST00000263925;ENST00000513421;ENST00000510143;ENST00000512247	T;T;T;T	0.19250	4.31;2.62;2.17;2.16	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);	0.045243	0.85682	D	0.000000	T	0.40119	0.1104	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10359	-1.0633	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	37	Q8TBB1	LNX1_HUMAN	N	37	ENSP00000263925:D37N;ENSP00000426445:D37N;ENSP00000421897:D37N;ENSP00000424364:D37N	ENSP00000263925:D37N	D	-	1	0	LNX1	54134818	1.000000	0.71417	0.912000	0.35992	0.410000	0.31052	7.818000	0.86416	2.837000	0.97791	0.591000	0.81541	GAT		PASS	0.572	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			10	16	10	16	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55564553	55564553	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:55564553C>T	ENST00000288135.5	+	3	538	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	147	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S147S(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTATTCCCTCAAGGGGT	0.532		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - coding silent(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(439-441)TCC>TCT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						51.0	51.0	51.0					4																	55564553		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55564553C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.441C>T	4.37:g.55564553C>T						KIT_uc010igs.2_Silent_p.S147S	p.S147S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	3	528	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		147			Extracellular (Potential).|Ig-like C2-type 2.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.441C>T	CCDS3496.1																																																																																				PASS	0.532	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			10	31	10	31	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57180318	57180318	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:57180318C>T	ENST00000504228.1	+	6	755	c.650C>T	c.(649-651)tCc>tTc	p.S217F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S210F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S217F			Q6ZU35	K1211_HUMAN	KIAA1211	217	Glu-rich.							p.S217F(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCTGGATTCCGAGGAAGAG	0.607																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)TCC>TTC		hypothetical protein LOC57482							39.0	49.0	46.0					4																	57180318		2032	4184	6216	SO:0001583	missense	57482							g.chr4:57180318C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.650C>T	4.37:g.57180318C>T	ENSP00000423366:p.Ser217Phe					KIAA1211_uc010iha.2_Missense_Mutation_p.S210F|KIAA1211_uc011bzz.1_Missense_Mutation_p.S127F|KIAA1211_uc003hbm.1_Missense_Mutation_p.S103F	p.S217F	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1041	+	Glioma(25;0.08)|all_neural(26;0.101)		217			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.650C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360706	0.61403	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.13778	2.58;2.58;2.56	4.54	4.54	0.55810	.	.	.	.	.	T	0.22044	0.0531	L	0.60455	1.87	0.09310	N	1	P;P;P	0.47677	0.899;0.899;0.815	P;P;P	0.51355	0.667;0.592;0.592	T	0.06391	-1.0829	9	0.38643	T	0.18	-3.0312	8.7424	0.34564	0.0:0.8979:0.0:0.1021	.	210;210;217	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	F	217;217;210;127	ENSP00000264229:S217F;ENSP00000423366:S217F;ENSP00000444006:S210F	ENSP00000264229:S217F	S	+	2	0	KIAA1211	56875075	0.000000	0.05858	0.026000	0.17262	0.705000	0.40729	0.714000	0.25808	2.513000	0.84729	0.561000	0.74099	TCC		PASS	0.607	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	23	6	23	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797662	57797662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:57797662C>T	ENST00000309042.7	+	4	2952	c.2638C>T	c.(2638-2640)Caa>Taa	p.Q880*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	880					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q880*(1)|p.Q880K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCAGGAGACCAAAAATTACT	0.448																																						uc003hch.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2638-2640)CAA>TAA		RE1-silencing transcription factor							100.0	108.0	105.0					4																	57797662		2202	4299	6501	SO:0001587	stop_gained	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797662C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2638C>T	4.37:g.57797662C>T	ENSP00000311816:p.Gln880*					REST_uc003hci.2_Nonsense_Mutation_p.Q880*|REST_uc010ihf.2_Nonsense_Mutation_p.Q554*	p.Q880*	NM_005612	NP_005603	Q13127	REST_HUMAN			4	2985	+	Glioma(25;0.08)|all_neural(26;0.181)		880					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Nonsense_Mutation	SNP	ENST00000309042.7	37	c.2638C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	39	7.503055	0.98325	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	.	.	.	5.71	5.71	0.89125	.	0.000000	0.40640	N	0.001044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-18.1306	17.6309	0.88108	0.0:1.0:0.0:0.0	.	.	.	.	X	880;857	.	ENSP00000311816:Q880X	Q	+	1	0	REST	57492419	1.000000	0.71417	0.995000	0.50966	0.010000	0.07245	4.514000	0.60482	2.687000	0.91594	0.655000	0.94253	CAA		PASS	0.448	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		104	154	104	154	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66233105	66233105	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:66233105C>T	ENST00000273854.3	-	10	2494	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	EPHA5_ENST00000354839.4_Missense_Mutation_p.E610K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E469K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E633K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	632					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.E632K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCTTTTCCTCTTCTGGATCT	0.358										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1894-1896)GAG>AAG		ephrin receptor EphA5 isoform a precursor							139.0	119.0	126.0					4																	66233105		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66233105C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1894G>A	4.37:g.66233105C>T	ENSP00000273854:p.Glu632Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E564K|EPHA5_uc003hcz.2_Missense_Mutation_p.E610K|EPHA5_uc011cah.1_Missense_Mutation_p.E633K|EPHA5_uc011cai.1_Missense_Mutation_p.E611K|EPHA5_uc003hda.2_Missense_Mutation_p.E633K	p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			10	2087	-			632			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1894G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570579	0.96540	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.28	5.28	0.74379	.	0.000000	0.51477	D	0.000093	T	0.32941	0.0846	M	0.82823	2.61	0.80722	D	1	P;B;P;D	0.64830	0.907;0.273;0.894;0.994	P;B;P;P	0.56960	0.63;0.109;0.688;0.81	T	0.12041	-1.0563	10	0.54805	T	0.06	.	18.5097	0.90911	0.0:1.0:0.0:0.0	.	611;633;610;632	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	632;469;610;633	ENSP00000273854:E632K;ENSP00000389208:E469K;ENSP00000346899:E610K;ENSP00000427638:E633K	ENSP00000273854:E632K	E	-	1	0	EPHA5	65915700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.760000	0.85248	2.465000	0.83290	0.460000	0.39030	GAG		PASS	0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		9	21	9	21	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68719814	68719814	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:68719814C>T	ENST00000283916.6	-	3	319	c.221G>A	c.(220-222)aGg>aAg	p.R74K	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	74	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R74K(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTCAAAGTCCTGTATTCCTG	0.284																																						uc003hdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)AGG>AAG		transmembrane protease, serine 11D							86.0	96.0	92.0					4																	68719814		2203	4297	6500	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719814C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.221G>A	4.37:g.68719814C>T	ENSP00000283916:p.Arg74Lys					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_5'UTR	p.R74K	NM_004262	NP_004253	O60235	TM11D_HUMAN			3	286	-			74			SEA.|Extracellular (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.221G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024534	0.35701	.	.	ENSG00000153802	ENST00000283916	T	0.34072	1.38	5.3	0.577	0.17385	SEA (3);	0.307323	0.27917	N	0.017329	T	0.26340	0.0643	L	0.53729	1.69	0.22511	N	0.999039	B	0.27166	0.17	B	0.30029	0.11	T	0.16660	-1.0395	10	0.22706	T	0.39	.	3.449	0.07491	0.3033:0.4478:0.0:0.2489	.	74	O60235	TM11D_HUMAN	K	74	ENSP00000283916:R74K	ENSP00000283916:R74K	R	-	2	0	TMPRSS11D	68402409	0.232000	0.23762	0.001000	0.08648	0.420000	0.31355	1.266000	0.33039	-0.111000	0.12001	-0.222000	0.12452	AGG		PASS	0.284	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		24	62	24	62	---	---	---	---
TMPRSS11A	339967	broad.mit.edu	37	4	68788546	68788546	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:68788546C>T	ENST00000334830.7	-	7	1374	c.628G>A	c.(628-630)Gat>Aat	p.D210N	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D207N|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.D206N			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D210N(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGGATGTTATCATACTGAAGG	0.468																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(628-630)GAT>AAT		transmembrane protease, serine 11A isoform 1							139.0	124.0	129.0					4																	68788546		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68788546C>T	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.628G>A	4.37:g.68788546C>T	ENSP00000334611:p.Asp210Asn					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.D207N	p.D210N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			7	749	-			210			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.628G>A	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	C	0.163	-1.079427	0.01903	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.72	-2.64	0.06114	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.606091	0.15185	N	0.275914	T	0.74496	0.3724	N	0.01686	-0.76	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.63747	-0.6567	10	0.11182	T	0.66	.	11.6921	0.51521	0.0:0.4062:0.0:0.5938	.	207;210	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	N	206;210;207;174	ENSP00000426911:D206N;ENSP00000334611:D210N;ENSP00000379491:D207N;ENSP00000427621:D174N	ENSP00000334611:D210N	D	-	1	0	TMPRSS11A	68471141	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.331000	0.19733	-0.264000	0.09365	-0.793000	0.03317	GAT		PASS	0.468	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606		12	23	12	23	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68930597	68930597	+	Missense_Mutation	SNP	C	C	T	rs377605520		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:68930597C>T	ENST00000356291.2	-	8	880	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R274Q(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTCACATTTCGTTTCACTGC	0.343																																						uc003hdt.1																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)	1						c.(820-822)CGA>CAA		transmembrane protease, serine 11F		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	71.0	73.0		821	4.9	0.9	4		73	0,8600		0,0,4300	no	missense	TMPRSS11F	NM_207407.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	274/439	68930597	1,13005	2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68930597C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.821G>A	4.37:g.68930597C>T	ENSP00000348639:p.Arg274Gln					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank	p.R274Q	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			8	870	-			274			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.821G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082564	0.36758	2.27E-4	0.0	ENSG00000198092	ENST00000356291	D	0.93547	-3.24	5.71	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000187	D	0.89114	0.6623	M	0.68728	2.09	0.32928	D	0.516753	D	0.55385	0.971	B	0.32211	0.142	D	0.92248	0.5806	10	0.52906	T	0.07	.	11.1263	0.48320	0.0:0.9129:0.0:0.0871	.	274	Q6ZWK6	TM11F_HUMAN	Q	274	ENSP00000348639:R274Q	ENSP00000348639:R274Q	R	-	2	0	TMPRSS11F	68613192	0.001000	0.12720	0.940000	0.37924	0.227000	0.25037	1.314000	0.33597	2.709000	0.92574	0.655000	0.94253	CGA		PASS	0.343	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		15	20	15	20	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69533906	69533906	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:69533906C>T	ENST00000338206.5	-	2	734	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	242					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G242E(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGTGGGTCTTCCTGATGGAAA	0.368																																						uc011cal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)GGA>GAA		UDP glycosyltransferase 2B15 precursor							55.0	61.0	59.0					4																	69533906		2200	4296	6496	SO:0001630	splice_region_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69533906C>T	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.725-1G>A	4.37:g.69533906C>T							p.G242E	NM_001076	NP_001067	P54855	UDB15_HUMAN			2	763	-			242					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.725G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.836218	0.50951	.	.	ENSG00000196620	ENST00000338206	T	0.59906	0.23	2.27	2.27	0.28462	.	0.000000	0.64402	U	0.000005	T	0.63498	0.2516	M	0.87827	2.91	0.38257	D	0.941788	P	0.38440	0.631	B	0.41813	0.367	T	0.72497	-0.4275	10	0.66056	D	0.02	.	10.1836	0.42984	0.0:1.0:0.0:0.0	.	242	P54855	UDB15_HUMAN	E	242	ENSP00000341045:G242E	ENSP00000341045:G242E	G	-	2	0	UGT2B15	69216501	1.000000	0.71417	0.944000	0.38274	0.668000	0.39293	5.014000	0.64029	1.255000	0.44051	0.305000	0.20034	GGA		PASS	0.368	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076	Missense_Mutation	39	63	39	63	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69817217	69817217	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:69817217C>T	ENST00000251566.4	-	1	292	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	88					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E88K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAAATATTTCATTTTCTTCT	0.363																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(262-264)GAA>AAA		UDP glucuronosyltransferase 2 family,							52.0	53.0	52.0					4																	69817217		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817217C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.262G>A	4.37:g.69817217C>T	ENSP00000251566:p.Glu88Lys					UGT2A3_uc010ihp.1_RNA	p.E88K	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	293	-			88			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.262G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	2.427	-0.331639	0.05314	.	.	ENSG00000135220	ENST00000251566	T	0.61859	0.07	4.74	-9.48	0.00591	.	2.722680	0.01117	N	0.005708	T	0.26412	0.0645	N	0.04820	-0.15	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.21381	-1.0247	10	0.08837	T	0.75	.	5.2505	0.15519	0.1978:0.5163:0.1001:0.1858	.	88	Q6UWM9	UD2A3_HUMAN	K	88	ENSP00000251566:E88K	ENSP00000251566:E88K	E	-	1	0	UGT2A3	69851806	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.426000	0.07008	-2.131000	0.00815	-1.057000	0.02308	GAA		PASS	0.363	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		19	55	19	55	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70361096	70361096	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:70361096C>T	ENST00000305107.6	-	1	530	c.484G>A	c.(484-486)Gag>Aag	p.E162K	UGT2B4_ENST00000512583.1_Missense_Mutation_p.E162K|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E26K|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	162					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.E162K(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)	TTAAGTAACTCGGCCAGCAGC	0.438																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(484-486)GAG>AAG		UDP glucuronosyltransferase 2B4 precursor							50.0	51.0	51.0					4																	70361096		2167	4297	6464	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361096C>T	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.484G>A	4.37:g.70361096C>T	ENSP00000305221:p.Glu162Lys					UGT2B4_uc011cap.1_Missense_Mutation_p.E26K|UGT2B4_uc003hel.3_Missense_Mutation_p.E162K	p.E162K	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	531	-			162					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.484G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523423	0.44866	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.63417	-0.04;-0.04;3.24	2.4	2.4	0.29515	.	0.211940	0.30159	U	0.010280	T	0.71187	0.3310	M	0.71296	2.17	0.09310	N	1	P;D;D	0.63880	0.497;0.993;0.977	B;P;P	0.61940	0.312;0.896;0.804	T	0.60301	-0.7290	10	0.30854	T	0.27	.	10.537	0.45009	0.0:1.0:0.0:0.0	.	26;162;162	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	K	162;162;26	ENSP00000421290:E162K;ENSP00000305221:E162K;ENSP00000370486:E26K	ENSP00000305221:E162K	E	-	1	0	UGT2B4	70395685	0.001000	0.12720	0.506000	0.27664	0.004000	0.04260	0.133000	0.15912	1.338000	0.45544	0.298000	0.19748	GAG		PASS	0.438	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		14	33	14	33	---	---	---	---
UGT2A1	10941	broad.mit.edu	37	4	70513040	70513040	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:70513040T>A	ENST00000503640.1	-	1	378	c.323A>T	c.(322-324)tAt>tTt	p.Y108F	UGT2A1_ENST00000286604.4_Missense_Mutation_p.Y108F|UGT2A1_ENST00000512704.1_Missense_Mutation_p.Y108F|UGT2A1_ENST00000514019.1_Missense_Mutation_p.Y108F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	108					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.Y108F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATCTCCTGATAGAATCTCCA	0.423																																						uc003hem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)TAT>TTT		UDP glucuronosyltransferase 2 family,							91.0	85.0	87.0					4																	70513040		2203	4298	6501	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513040T>A	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.323A>T	4.37:g.70513040T>A	ENSP00000424478:p.Tyr108Phe					UGT2A1_uc011caq.1_Missense_Mutation_p.Y108F|UGT2A1_uc010ihu.2_Missense_Mutation_p.Y108F|UGT2A1_uc010iht.2_Missense_Mutation_p.Y108F	p.Y108F	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	386	-			108			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.323A>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193355	0.09599	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61274	0.33;0.12;0.33;0.33;0.33	5.78	4.58	0.56647	.	0.279137	0.35096	N	0.003446	T	0.42585	0.1209	N	0.02169	-0.655	.	.	.	D;B;D;D	0.71674	0.998;0.068;0.996;0.993	D;B;D;P	0.69307	0.963;0.055;0.946;0.877	T	0.51356	-0.8716	9	0.02654	T	1	.	10.4679	0.44618	0.1457:0.0:0.0:0.8543	.	108;108;108;108	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	F	108	ENSP00000424478:Y108F;ENSP00000421432:Y108F;ENSP00000425497:Y108F;ENSP00000286604:Y108F;ENSP00000427709:Y108F	ENSP00000286604:Y108F	Y	-	2	0	UGT2A1	70547629	0.966000	0.33281	0.998000	0.56505	0.812000	0.45895	1.685000	0.37659	0.995000	0.38917	0.482000	0.46254	TAT		PASS	0.423	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		16	51	16	51	---	---	---	---
SULT1E1	6783	broad.mit.edu	37	4	70710047	70710047	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:70710047C>T	ENST00000226444.3	-	7	716	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	202					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.E202K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	TTTATCACCTCTTTTCTGATA	0.338																																						uc003heo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(604-606)GAG>AAG		estrogen sulfotransferase							103.0	101.0	102.0					4																	70710047		2203	4300	6503	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70710047C>T	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.604G>A	4.37:g.70710047C>T	ENSP00000226444:p.Glu202Lys						p.E202K	NM_005420	NP_005411	P49888	ST1E1_HUMAN			7	717	-			202			PAPS.		Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.604G>A	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866074	0.71949	.	.	ENSG00000109193	ENST00000226444	D	0.83075	-1.68	3.99	3.99	0.46301	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000002	D	0.92564	0.7638	M	0.92507	3.315	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.94023	0.7294	10	0.87932	D	0	.	14.4097	0.67106	0.0:1.0:0.0:0.0	.	202	P49888	ST1E1_HUMAN	K	202	ENSP00000226444:E202K	ENSP00000226444:E202K	E	-	1	0	SULT1E1	70744636	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	5.646000	0.67916	2.501000	0.84356	0.655000	0.94253	GAG		PASS	0.338	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		15	42	15	42	---	---	---	---
CSN2	1447	broad.mit.edu	37	4	70826673	70826673	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:70826673A>G	ENST00000353151.3	-	1	52	c.41T>C	c.(40-42)cTt>cCt	p.L14P		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.L14P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTCCCTTGCAAGAGCAAGAGC	0.388																																						uc003hes.3																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)CTT>CCT		casein beta precursor							92.0	90.0	91.0					4																	70826673		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70826673A>G	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.41T>C	4.37:g.70826673A>G	ENSP00000341030:p.Leu14Pro					CSN2_uc003het.3_Missense_Mutation_p.L14P	p.L14P	NM_001891	NP_001882	P05814	CASB_HUMAN			1	54	-			14					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.41T>C	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743938	0.49151	.	.	ENSG00000135222	ENST00000353151	.	.	.	5.0	5.0	0.66597	.	0.171732	0.28354	N	0.015657	T	0.70307	0.3209	M	0.77486	2.375	0.51482	D	0.999923	D	0.61697	0.99	P	0.56823	0.807	T	0.75022	-0.3464	9	0.87932	D	0	-8.7361	11.6727	0.51411	1.0:0.0:0.0:0.0	.	14	P05814	CASB_HUMAN	P	14	.	ENSP00000341030:L14P	L	-	2	0	CSN2	70861262	0.934000	0.31675	1.000000	0.80357	0.968000	0.65278	4.074000	0.57577	2.190000	0.69967	0.533000	0.62120	CTT		PASS	0.388	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			9	42	9	42	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71201725	71201725	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:71201725C>T	ENST00000273936.5	+	1	1043	c.969C>T	c.(967-969)ttC>ttT	p.F323F		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	323					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)	p.F323F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATATGACTTCGTTGTCCCTG	0.413																																						uc003hff.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(967-969)TTC>TTT		testis development protein NYD-SP26							109.0	98.0	102.0					4																	71201725		2203	4300	6503	SO:0001819	synonymous_variant	85438					flagellum	calcium ion binding	g.chr4:71201725C>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.969C>T	4.37:g.71201725C>T							p.F323F	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	1055	+		all_hematologic(202;0.196)	323					B2RCB5|Q86UE0|Q96M17	Silent	SNP	ENST00000273936.5	37	c.969C>T	CCDS3539.1																																																																																				PASS	0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		28	48	28	48	---	---	---	---
SMR3B	10879	broad.mit.edu	37	4	71255408	71255408	+	Missense_Mutation	SNP	G	G	A	rs149721413		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:71255408G>A	ENST00000304915.3	+	3	232	c.83G>A	c.(82-84)gGa>gAa	p.G28E	SMR3B_ENST00000504825.1_Missense_Mutation_p.G28E	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	28	Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G28E(1)		large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				GGCCCCAGGGGACCATATCCA	0.483																																						uc011cas.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)GGA>GAA		submaxillary gland androgen regulated protein 3							77.0	81.0	80.0					4																	71255408		2203	4300	6503	SO:0001583	missense	10879					extracellular space		g.chr4:71255408G>A	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.83G>A	4.37:g.71255408G>A	ENSP00000302400:p.Gly28Glu					SMR3B_uc003hfh.2_Missense_Mutation_p.G28E	p.G28E	NM_006685	NP_006676	P02814	SMR3B_HUMAN			3	164	+		all_hematologic(202;0.196)	28			Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.83G>A	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	G	3.321	-0.138758	0.06669	.	.	ENSG00000171201	ENST00000504825;ENST00000304915;ENST00000381030	T;T	0.36340	1.26;1.26	1.5	0.543	0.17179	.	.	.	.	.	T	0.19685	0.0473	.	.	.	0.09310	N	1	P	0.41748	0.761	B	0.30251	0.113	T	0.13818	-1.0495	8	0.87932	D	0	.	4.7026	0.12834	0.0:0.0:0.6311:0.3689	.	28	P02814	SMR3B_HUMAN	E	28	ENSP00000423138:G28E;ENSP00000302400:G28E	ENSP00000302400:G28E	G	+	2	0	SMR3B	71289997	0.004000	0.15560	0.003000	0.11579	0.198000	0.23893	0.500000	0.22562	0.152000	0.19188	0.205000	0.17691	GGA		PASS	0.483	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		16	38	16	38	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71510361	71510361	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:71510361C>T	ENST00000396073.3	+	9	3499	c.3218C>T	c.(3217-3219)cCa>cTa	p.P1073L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1073					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P1073L(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCGGAACTCCATCTAGCGAT	0.438																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3217-3219)CCA>CTA		enamelin precursor							98.0	94.0	95.0					4																	71510361		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510361C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3218C>T	4.37:g.71510361C>T	ENSP00000379383:p.Pro1073Leu						p.P1073L	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3499	+			1073					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3218C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126410	0.37533	.	.	ENSG00000132464	ENST00000396073	T	0.45668	0.89	5.95	5.11	0.69529	.	0.118903	0.38720	N	0.001597	T	0.54319	0.1851	M	0.87547	2.89	0.48452	D	0.99965	P	0.40534	0.72	P	0.44359	0.447	T	0.62224	-0.6899	10	0.87932	D	0	-4.3332	10.9711	0.47441	0.0:0.9151:0.0:0.0849	.	1073	Q9NRM1	ENAM_HUMAN	L	1073	ENSP00000379383:P1073L	ENSP00000379383:P1073L	P	+	2	0	ENAM	71729225	0.889000	0.30405	1.000000	0.80357	0.315000	0.28087	1.829000	0.39121	1.533000	0.49186	0.655000	0.94253	CCA		PASS	0.438	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		28	76	28	76	---	---	---	---
IGJ	3512	broad.mit.edu	37	4	71527909	71527909	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:71527909G>A	ENST00000254801.4	-	2	257	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	IGJ_ENST00000543780.1_Missense_Mutation_p.L46F|ENAM_ENST00000472903.1_3'UTR	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	30					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)	p.L30F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTGTCAACAAGAACAATCCTT	0.343																																						uc003hfn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTT>TTT		immunoglobulin J chain							113.0	107.0	109.0					4																	71527909		2203	4300	6503	SO:0001583	missense	3512				immune response	extracellular region	antigen binding	g.chr4:71527909G>A	M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.88C>T	4.37:g.71527909G>A	ENSP00000254801:p.Leu30Phe					IGJ_uc010ihz.2_Missense_Mutation_p.L46F	p.L30F	NM_144646	NP_653247	P01591	IGJ_HUMAN	Lung(101;0.235)		2	229	-			30						Missense_Mutation	SNP	ENST00000254801.4	37	c.88C>T	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212424	0.79240	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.2	5.2	0.72013	.	0.000000	0.52532	D	0.000061	T	0.67107	0.2858	L	0.34521	1.04	0.42816	D	0.993977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70662	-0.4810	9	0.72032	D	0.01	.	15.6638	0.77209	0.0:0.0:1.0:0.0	.	46;30	D6RHJ6;P01591	.;IGJ_HUMAN	F	30;30;46;39;46;30	.	ENSP00000254801:L30F	L	-	1	0	IGJ	71746773	1.000000	0.71417	0.658000	0.29665	0.922000	0.55478	3.436000	0.52856	2.433000	0.82419	0.650000	0.86243	CTT		PASS	0.343	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646		23	37	23	37	---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71672244	71672244	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:71672244G>A	ENST00000381006.3	+	18	2310	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	RUFY3_ENST00000512331.1_3'UTR|RUFY3_ENST00000502653.1_Silent_p.K524K	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	0					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.K577K(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATGTGTGTAAGAACTGCAGCG	0.443																																						uc003hfr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1729-1731)AAG>AAA		RUN and FYVE domain containing 3 isoform 1							196.0	179.0	185.0					4																	71672244		2203	4300	6503	SO:0001819	synonymous_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71672244G>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.1731G>A	4.37:g.71672244G>A						RUFY3_uc011cay.1_Silent_p.K513K	p.K577K	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		18	2326	+		all_hematologic(202;0.248)	Error:Variant_position_missing_in_Q7L099_after_alignment					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	ENST00000381006.3	37	c.1731G>A	CCDS34001.1																																																																																				PASS	0.443	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252162.1	NM_014961		38	95	38	95	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73013255	73013255	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:73013255C>T	ENST00000308744.6	+	4	1393	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P330L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.P333L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	432					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.P432L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGTGTCAATCCCATCATTTAT	0.458																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1294-1296)CCC>CTC		neuropeptide FF receptor 2 isoform 1							95.0	94.0	95.0					4																	73013255		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013255C>T	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1295C>T	4.37:g.73013255C>T	ENSP00000307822:p.Pro432Leu					NPFFR2_uc010iig.1_Missense_Mutation_p.P214L|NPFFR2_uc003hgi.2_Missense_Mutation_p.P333L|NPFFR2_uc003hgh.2_Missense_Mutation_p.P330L|NPFFR2_uc003hgj.2_RNA	p.P432L	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1393	+			432			Helical; Name=7; (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1295C>T	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175537	0.78564	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	D;D;D	0.98807	-5.15;-5.15;-5.15	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.224749	0.31922	N	0.006854	D	0.99625	0.9863	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97476	1.0044	10	0.87932	D	0	.	19.7113	0.96096	0.0:1.0:0.0:0.0	.	333;432	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	L	432;333;330	ENSP00000307822:P432L;ENSP00000379321:P333L;ENSP00000351599:P330L	ENSP00000307822:P432L	P	+	2	0	NPFFR2	73232119	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.701000	0.84566	2.756000	0.94617	0.655000	0.94253	CCC		PASS	0.458	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		27	41	27	41	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73169723	73169723	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:73169723C>T	ENST00000286657.4	-	17	2371	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	779	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D779N(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACACCAAGATCTATGAAGGTC	0.413																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2335-2337)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							219.0	215.0	216.0					4																	73169723		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169723C>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2335G>A	4.37:g.73169723C>T	ENSP00000286657:p.Asp779Asn					ADAMTS3_uc003hgl.2_Missense_Mutation_p.D120N	p.D779N	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2372	-			779			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2335G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825741	0.71143	.	.	ENSG00000156140	ENST00000286657	T	0.50813	0.73	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.059669	0.64402	D	0.000004	T	0.57548	0.2061	L	0.36672	1.1	0.58432	D	0.999994	P	0.46578	0.88	P	0.59221	0.854	T	0.47649	-0.9101	10	0.27785	T	0.31	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	779	O15072	ATS3_HUMAN	N	779	ENSP00000286657:D779N	ENSP00000286657:D779N	D	-	1	0	ADAMTS3	73388587	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.991000	0.70602	2.623000	0.88846	0.655000	0.94253	GAT		PASS	0.413	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			66	157	66	157	---	---	---	---
ALB	213	broad.mit.edu	37	4	74270067	74270067	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:74270067C>T	ENST00000295897.4	+	1	112	c.23C>T	c.(22-24)tCc>tTc	p.S8F	ALB_ENST00000401494.3_Missense_Mutation_p.S8F|ALB_ENST00000415165.2_Missense_Mutation_p.S8F|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.S8F	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.S8F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTTTATTTCCCTTCTTTTT	0.393																																						uc003hgs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(22-24)TCC>TTC		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						137.0	130.0	132.0					4																	74270067		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74270067C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.23C>T	4.37:g.74270067C>T	ENSP00000295897:p.Ser8Phe					ALB_uc003hgw.3_Missense_Mutation_p.S8F|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.S8F|ALB_uc010iii.2_Missense_Mutation_p.S8F|ALB_uc003hgu.3_5'UTR|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_5'Flank	p.S8F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	96	+	Breast(15;0.00102)		8					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.23C>T	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314277	0.60414	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T	0.60920	0.46;0.15;0.46;0.38	5.45	2.75	0.32379	.	0.288355	0.33895	N	0.004460	T	0.54759	0.1878	L	0.49640	1.575	0.20926	N	0.999822	D;D;P;P	0.61697	0.99;0.983;0.916;0.916	P;P;P;P	0.50537	0.643;0.597;0.643;0.59	T	0.48811	-0.9002	10	0.56958	D	0.05	-5.772	6.3986	0.21626	0.0:0.5675:0.2821:0.1505	.	8;8;8;8	B7WNR0;C9JKR2;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	F	8	ENSP00000295897:S8F;ENSP00000401820:S8F;ENSP00000422784:S8F;ENSP00000384695:S8F	ENSP00000295897:S8F	S	+	2	0	ALB	74488931	0.928000	0.31464	0.873000	0.34254	0.966000	0.64601	0.881000	0.28173	0.396000	0.25283	0.655000	0.94253	TCC		PASS	0.393	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		23	31	23	31	---	---	---	---
ALB	213	broad.mit.edu	37	4	74283961	74283961	+	Missense_Mutation	SNP	G	G	A	rs74826639		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:74283961G>A	ENST00000503124.1	+	10	1342	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	ALB_ENST00000401494.3_Missense_Mutation_p.E414K|ALB_ENST00000415165.2_Missense_Mutation_p.E337K|ALB_ENST00000509063.1_Missense_Mutation_p.E529K|ALB_ENST00000295897.4_Missense_Mutation_p.E529K|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.E529K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTTAATGCTGAAACATTCAC	0.418																																						uc003hgs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6	GRCh37	CM930015	ALB	M	rs74826639	c.(1585-1587)GAA>AAA		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						129.0	124.0	126.0					4																	74283961		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283961G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1135G>A	4.37:g.74283961G>A	ENSP00000421027:p.Glu379Lys					ALB_uc003hgw.3_Missense_Mutation_p.E337K|ALB_uc011cbe.1_Missense_Mutation_p.E208K|ALB_uc003hgt.3_Missense_Mutation_p.E529K|ALB_uc010iii.2_Missense_Mutation_p.E414K|ALB_uc003hgu.3_Missense_Mutation_p.E379K|ALB_uc003hgv.3_Missense_Mutation_p.E208K|ALB_uc011cbf.1_Missense_Mutation_p.E419K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.E208K	p.E529K	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1658	+	Breast(15;0.00102)		529		E -> K (in Ortonovo).	Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1585G>A		.	.	.	.	.	.	.	.	.	.	G	10.69	1.420574	0.25639	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.94	5.09	0.68999	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.443299	0.23866	N	0.043782	T	0.62171	0.2406	L	0.41573	1.285	0.21627	N	0.999619	B;B;B;B;B	0.16166	0.01;0.007;0.006;0.016;0.006	B;B;B;B;B	0.20184	0.02;0.028;0.014;0.012;0.007	T	0.51663	-0.8677	10	0.30854	T	0.27	-7.6031	13.112	0.59278	0.0794:0.0:0.9206:0.0	.	414;337;379;529;529	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	K	529;337;316;379;529;414;538	ENSP00000295897:E529K;ENSP00000401820:E337K;ENSP00000421027:E379K;ENSP00000422784:E529K;ENSP00000384695:E414K	ENSP00000295897:E529K	E	+	1	0	ALB	74502825	0.342000	0.24809	0.014000	0.15608	0.072000	0.16883	2.111000	0.41883	1.484000	0.48361	0.650000	0.86243	GAA		PASS	0.418	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		19	53	19	53	---	---	---	---
CXCL5	6374	broad.mit.edu	37	4	74863790	74863790	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:74863790C>T	ENST00000296027.4	-	3	462	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	89					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.E89K(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)			AGACAAATTTCCTTCCCGTTC	0.423																																						uc003hhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAA>AAA		chemokine (C-X-C motif) ligand 5 precursor							84.0	92.0	89.0					4																	74863790		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.chr4:74863790C>T	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.265G>A	4.37:g.74863790C>T	ENSP00000296027:p.Glu89Lys						p.E89K	NM_002994	NP_002985	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	383	-	Breast(15;0.00136)		89					Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	c.265G>A	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653795	0.03480	.	.	ENSG00000163735	ENST00000296027	T	0.04454	3.62	3.78	0.934	0.19477	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.747211	0.12874	N	0.432036	T	0.04318	0.0119	L	0.48986	1.54	0.09310	N	1	B	0.26577	0.153	B	0.30943	0.122	T	0.46952	-0.9154	10	0.07030	T	0.85	.	3.7086	0.08411	0.0:0.5512:0.2069:0.242	.	89	P42830	CXCL5_HUMAN	K	89	ENSP00000296027:E89K	ENSP00000296027:E89K	E	-	1	0	CXCL5	75082654	0.001000	0.12720	0.002000	0.10522	0.198000	0.23893	0.424000	0.21330	-0.029000	0.13827	0.306000	0.20318	GAA		PASS	0.423	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		37	85	37	85	---	---	---	---
PARM1	25849	broad.mit.edu	37	4	75937898	75937898	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:75937898G>A	ENST00000307428.7	+	2	519	c.307G>A	c.(307-309)Gac>Aac	p.D103N	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	103					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)		p.D103N(2)|p.D162N(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CACAAACACAGACCCCTCACC	0.542																																						uc003hih.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(307-309)GAC>AAC		prostatic androgen-repressed message-1							150.0	149.0	149.0					4																	75937898		2078	4200	6278	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75937898G>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.307G>A	4.37:g.75937898G>A	ENSP00000370224:p.Asp103Asn						p.D103N	NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN			2	547	+			103			Extracellular (Potential).		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.307G>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653630	0.47362	.	.	ENSG00000169116	ENST00000307428	T	0.77358	-1.09	5.21	4.23	0.50019	.	0.413525	0.23243	N	0.050340	T	0.60196	0.2250	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.43798	-0.9369	10	0.21014	T	0.42	-3.0567	7.7343	0.28804	0.1485:0.0:0.8515:0.0	.	103	Q6UWI2	PARM1_HUMAN	N	103	ENSP00000370224:D103N	ENSP00000370224:D103N	D	+	1	0	PARM1	76156922	0.001000	0.12720	0.016000	0.15963	0.036000	0.12997	0.840000	0.27600	0.947000	0.37659	0.563000	0.77884	GAC		PASS	0.542	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		78	87	78	87	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76551160	76551160	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:76551160C>T	ENST00000429927.2	-	2	716	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	CDKL2_ENST00000307465.4_Missense_Mutation_p.E5K	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	5	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.E5K(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCCAGGTTTTCATATTTTTCC	0.353																																						uc003hiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(13-15)GAA>AAA		cyclin-dependent kinase-like 2							111.0	118.0	116.0					4																	76551160		2203	4298	6501	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76551160C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.13G>A	4.37:g.76551160C>T	ENSP00000412365:p.Glu5Lys					CDKL2_uc011cbp.1_Missense_Mutation_p.E5K|CDKL2_uc010iix.1_RNA	p.E5K	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	538	-			5			Protein kinase.		B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.13G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617912	0.96649	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.65916	-0.18;-0.18	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70404	0.3220	L	0.28649	0.875	0.58432	D	0.999993	D;D	0.76494	0.992;0.999	P;D	0.73708	0.903;0.981	T	0.73316	-0.4021	9	0.87932	D	0	-26.3826	17.8449	0.88727	0.0:1.0:0.0:0.0	.	5;5	B4DH08;Q92772	.;CDKL2_HUMAN	K	5	ENSP00000412365:E5K;ENSP00000306340:E5K	ENSP00000306340:E5K	E	-	1	0	CDKL2	76770184	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.361000	0.66092	2.817000	0.96982	0.563000	0.77884	GAA		PASS	0.353	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		23	41	23	41	---	---	---	---
CXCL10	3627	broad.mit.edu	37	4	76943560	76943560	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:76943560C>T	ENST00000306602.1	-	3	302	c.237G>A	c.(235-237)tcG>tcA	p.S79S	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	79					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.S79S(1)		kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATGGCCTTCGATTCTGGAT	0.388																																						uc003hjl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(235-237)TCG>TCA		small inducible cytokine B10 precursor							160.0	143.0	149.0					4																	76943560		1863	4097	5960	SO:0001819	synonymous_variant	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943560C>T	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.237G>A	4.37:g.76943560C>T						ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron	p.S79S	NM_001565	NP_001556	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	307	-			79					Q96QJ5	Silent	SNP	ENST00000306602.1	37	c.237G>A	CCDS43240.1																																																																																				PASS	0.388	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			23	52	23	52	---	---	---	---
ART3	419	broad.mit.edu	37	4	77003049	77003049	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:77003049G>A	ENST00000355810.4	+	3	261	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.E48K|ART3_ENST00000341029.5_Missense_Mutation_p.E48K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	48					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E48K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGACAGGATGGAAATTAAATA	0.403																																						uc003hjo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(142-144)GAA>AAA		ADP-ribosyltransferase 3 isoform a							125.0	125.0	125.0					4																	77003049		2203	4300	6503	SO:0001583	missense	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77003049G>A	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.142G>A	4.37:g.77003049G>A	ENSP00000348064:p.Glu48Lys					ART3_uc003hji.2_Missense_Mutation_p.E48K|ART3_uc003hjj.2_Missense_Mutation_p.E48K|ART3_uc003hjk.2_Missense_Mutation_p.E48K|ART3_uc010ija.1_Missense_Mutation_p.E48K|ART3_uc003hjn.2_Missense_Mutation_p.E48K|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.E18K|ART3_uc010ijc.2_Missense_Mutation_p.E18K|ART3_uc010ijd.2_Missense_Mutation_p.E18K	p.E48K	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	261	+			48					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	c.142G>A	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331806	0.81801	.	.	ENSG00000156219	ENST00000513353;ENST00000341029;ENST00000513122;ENST00000504914;ENST00000355810;ENST00000349321;ENST00000510423	T;T;T;T;T;T;T	0.09445	2.98;2.98;2.98;2.98;2.98;2.98;2.98	5.76	5.76	0.90799	.	0.105122	0.64402	D	0.000007	T	0.44498	0.1296	M	0.92317	3.295	0.40914	D	0.98425	D;D;D;D;D;D;P	0.89917	1.0;1.0;0.999;0.996;1.0;1.0;0.86	D;D;D;D;D;D;P	0.81914	0.99;0.992;0.982;0.938;0.995;0.988;0.561	T	0.56232	-0.8013	10	0.87932	D	0	-7.2299	17.4533	0.87599	0.0:0.0:1.0:0.0	.	18;48;48;48;48;48;48	D6RBN3;E7ESB3;B4DHX3;E7ER42;Q13508;Q13508-3;Q13508-2	.;.;.;.;NAR3_HUMAN;.;.	K	48	ENSP00000421345:E48K;ENSP00000343843:E48K;ENSP00000422287:E48K;ENSP00000421431:E48K;ENSP00000348064:E48K;ENSP00000304313:E48K;ENSP00000425327:E48K	ENSP00000343843:E48K	E	+	1	0	ART3	77222073	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	5.888000	0.69758	2.706000	0.92434	0.563000	0.77884	GAA		PASS	0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		31	77	31	77	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77278671	77278671	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:77278671C>T	ENST00000388914.3	-	13	2181	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	677								p.E677K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTAAGACTTCATACTCCTCT	0.269																																						uc003hkb.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(3)|ovary(2)|pancreas(1)	6						c.(2029-2031)GAA>AAA		coiled-coil domain containing 158							97.0	86.0	90.0					4																	77278671		1807	4059	5866	SO:0001583	missense	339965							g.chr4:77278671C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2029G>A	4.37:g.77278671C>T	ENSP00000373566:p.Glu677Lys						p.E677K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			13	2182	-			677			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2029G>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622729	0.46840	.	.	ENSG00000163749	ENST00000388914	T	0.33438	1.41	5.4	5.4	0.78164	.	0.242412	0.33401	N	0.004947	T	0.22513	0.0543	N	0.19112	0.55	0.80722	D	1	B	0.17268	0.021	B	0.23852	0.049	T	0.04140	-1.0974	10	0.54805	T	0.06	.	12.4356	0.55598	0.0:0.8311:0.1689:0.0	.	677	Q5M9N0	CD158_HUMAN	K	677	ENSP00000373566:E677K	ENSP00000373566:E677K	E	-	1	0	CCDC158	77497695	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	3.526000	0.53509	2.531000	0.85337	0.460000	0.39030	GAA		PASS	0.269	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	11	7	11	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328210	80328210	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:80328210C>T	ENST00000358842.3	-	1	1162	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.G382D(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTGAGTGAGGCCACAGAGTAT	0.438																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1144-1146)GGC>GAC		glycerol kinase 2							123.0	116.0	119.0					4																	80328210		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328210C>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1145G>A	4.37:g.80328210C>T	ENSP00000351706:p.Gly382Asp						p.G382D	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1163	-			382					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1145G>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549738	0.65311	.	.	ENSG00000196475	ENST00000358842	D	0.91407	-2.84	4.04	4.04	0.47022	Carbohydrate kinase, FGGY, C-terminal (1);Carbohydrate kinase, FGGY, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98220	1.0477	10	0.87932	D	0	-16.0611	14.504	0.67741	0.0:1.0:0.0:0.0	.	382	Q14410	GLPK2_HUMAN	D	382	ENSP00000351706:G382D	ENSP00000351706:G382D	G	-	2	0	GK2	80547234	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.734000	0.74801	2.558000	0.86282	0.585000	0.79938	GGC		PASS	0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		30	79	30	79	---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82095970	82095970	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:82095970C>T	ENST00000395578.1	-	3	721	c.605G>A	c.(604-606)gGa>gAa	p.G202E	RP11-100N20.1_ENST00000512502.1_RNA|RP11-100N20.1_ENST00000505175.1_RNA|PRKG2_ENST00000418486.2_Missense_Mutation_p.G202E|PRKG2_ENST00000264399.1_Missense_Mutation_p.G202E			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	202					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.G202E(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GATATGGTTTCCTGGTTCTCC	0.368																																						uc003hmh.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(604-606)GGA>GAA		protein kinase, cGMP-dependent, type II							148.0	148.0	148.0					4																	82095970		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82095970C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.605G>A	4.37:g.82095970C>T	ENSP00000378945:p.Gly202Glu					PRKG2_uc011cch.1_Missense_Mutation_p.G202E	p.G202E	NM_006259	NP_006250	Q13237	KGP2_HUMAN			2	619	-			202			cGMP 1.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.605G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753318	0.89753	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.93189	-3.18;-3.18;-3.18	5.98	5.98	0.97165	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98541	1.0632	10	0.87932	D	0	-19.9872	20.0471	0.97613	0.0:1.0:0.0:0.0	.	202;202	E7EPE6;Q13237	.;KGP2_HUMAN	E	202	ENSP00000378945:G202E;ENSP00000264399:G202E;ENSP00000389038:G202E	ENSP00000264399:G202E	G	-	2	0	PRKG2	82314994	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.269000	0.78482	2.838000	0.97847	0.591000	0.81541	GGA		PASS	0.368	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		31	65	31	65	---	---	---	---
SCD5	79966	broad.mit.edu	37	4	83626521	83626521	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:83626521G>A	ENST00000319540.4	-	2	597	c.278C>T	c.(277-279)gCc>gTc	p.A93V	SCD5_ENST00000282709.4_Missense_Mutation_p.A93V|SCD5_ENST00000273908.4_Missense_Mutation_p.A93V	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	93					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.A93V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CAAGCGATGGGCACCAGCTGT	0.577																																						uc003hna.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(277-279)GCC>GTC		stearoyl-CoA desaturase 5 isoform a							67.0	60.0	62.0					4																	83626521		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83626521G>A	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.278C>T	4.37:g.83626521G>A	ENSP00000316329:p.Ala93Val					SCD5_uc003hnb.3_Missense_Mutation_p.A93V|SCD5_uc003hnc.2_Missense_Mutation_p.A93V	p.A93V	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN			2	598	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	93			Helical; (Potential).		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.278C>T	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841835	0.71488	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T;T	0.14640	2.49;2.49	5.12	4.27	0.50696	Fatty acid desaturase, type 1 (1);	0.101912	0.64402	D	0.000002	T	0.27098	0.0664	L	0.53249	1.67	0.54753	D	0.999985	D;D;P	0.59357	0.965;0.985;0.857	P;P;P	0.56563	0.69;0.801;0.576	T	0.01795	-1.1272	10	0.42905	T	0.14	0.8483	15.9587	0.79910	0.0:0.135:0.865:0.0	.	93;93;93	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	V	93	ENSP00000316329:A93V;ENSP00000273908:A93V	ENSP00000273908:A93V	A	-	2	0	SCD5	83845545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.280000	0.72626	1.501000	0.48654	0.491000	0.48974	GCC		PASS	0.577	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		10	24	10	24	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84374945	84374946	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:84374945_84374946CC>TT	ENST00000295488.3	-	2	612_613	c.450_451GG>AA	c.(448-453)tcGGaa>tcAAaa	p.E151K	HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Missense_Mutation_p.E151K|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	151					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E151K(2)|p.S150S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTGATACTTTCCGAGCAAAGAT	0.391								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)|skin(1)	3						c.(451-453)GAA>AAA|c.(448-450)TCG>TCA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308																																				SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84374945C>T|g.chr4:84374946C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.450_451delinsTT	4.37:g.84374945_84374946delinsTT	ENSP00000295488:p.Glu151Lys					HELQ_uc010ikb.2_Missense_Mutation_p.E151K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.E45K|HELQ_uc003hoo.1_Missense_Mutation_p.E114K|HELQ_uc003hop.1_Missense_Mutation_p.E45K|HELQ_uc003hoq.1_Missense_Mutation_p.E151K|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank|HELQ_uc010ikb.2_Silent_p.S150S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Silent_p.S44S|HELQ_uc003hoo.1_Silent_p.S113S|HELQ_uc003hop.1_Silent_p.S44S|HELQ_uc003hoq.1_Silent_p.S150S|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.E151K|p.S150S	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			2	630|629	-			151|150					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation|Silent	SNP	ENST00000295488.3	37	c.451G>A|c.450G>A	CCDS3603.1																																																																																				PASS	0.391	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		45|46	115|116	45	115	---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85416988	85416988	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:85416988G>A	ENST00000295886.4	-	2	901	c.680C>T	c.(679-681)tCc>tTc	p.S227F	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	227	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|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 type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S227F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CAACAAAATGGATCCTTGATC	0.448																																						uc003hpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)TCC>TTC		NK6 transcription factor related, locus 1							72.0	76.0	74.0					4																	85416988		2203	4300	6503	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85416988G>A	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.680C>T	4.37:g.85416988G>A	ENSP00000295886:p.Ser227Phe						p.S227F	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	2	686	-		Hepatocellular(203;0.114)	227			Repressor domain (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.680C>T	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068033	0.76301	.	.	ENSG00000163623	ENST00000295886	D	0.95821	-3.82	5.55	5.55	0.83447	Homeodomain-like (1);	0.131587	0.52532	D	0.000064	D	0.96172	0.8752	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	D	0.96282	0.9207	10	0.56958	D	0.05	-25.0585	18.0999	0.89503	0.0:0.0:1.0:0.0	.	227	P78426	NKX61_HUMAN	F	227	ENSP00000295886:S227F	ENSP00000295886:S227F	S	-	2	0	NKX6-1	85636012	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.063000	0.93927	2.606000	0.88127	0.655000	0.94253	TCC		PASS	0.448	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		26	31	26	31	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87610231	87610231	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:87610231C>T	ENST00000411767.2	+	5	497	c.434C>T	c.(433-435)tCt>tTt	p.S145F	PTPN13_ENST00000427191.2_Missense_Mutation_p.S145F|PTPN13_ENST00000502971.1_Missense_Mutation_p.S145F|PTPN13_ENST00000316707.6_Missense_Mutation_p.S145F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S145F|PTPN13_ENST00000436978.1_Missense_Mutation_p.S145F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	145	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S145F(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCTCGAGTTTCTGTTCGGACT	0.428																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(433-435)TCT>TTT		protein tyrosine phosphatase, non-receptor type							158.0	153.0	155.0					4																	87610231		1977	4178	6155	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87610231C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.434C>T	4.37:g.87610231C>T	ENSP00000407249:p.Ser145Phe					PTPN13_uc003hpy.2_Missense_Mutation_p.S145F|PTPN13_uc003hqa.2_Missense_Mutation_p.S145F|PTPN13_uc003hqb.2_Missense_Mutation_p.S145F	p.S145F	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	5	914	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	145			KIND.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.434C>T	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982870	0.93044	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000502971;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T;T	0.24723	1.84;1.84;2.93;1.84;1.84;1.84	5.72	5.72	0.89469	Argonaute/Dicer protein, PAZ (1);KIND (2);	0.000000	0.48286	D	0.000192	T	0.54983	0.1892	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;0.999	T	0.56414	-0.7983	10	0.87932	D	0	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	145;145;145;145	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	F	145;145;145;145;145;145;113	ENSP00000408368:S145F;ENSP00000394794:S145F;ENSP00000423531:S145F;ENSP00000322675:S145F;ENSP00000407249:S145F;ENSP00000426626:S145F	ENSP00000322675:S145F	S	+	2	0	PTPN13	87829255	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.724000	0.74747	2.695000	0.91970	0.650000	0.86243	TCT		PASS	0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			38	59	38	59	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88056849	88056849	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88056849C>T	ENST00000307808.6	+	20	4049	c.3629C>T	c.(3628-3630)cCt>cTt	p.P1210L	AFF1_ENST00000395146.4_Missense_Mutation_p.P1218L|AFF1_ENST00000544085.1_Missense_Mutation_p.P849L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1210					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1218L(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACCAAAACACCTTAATGGAGC	0.453																																						uc003hqj.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3628-3630)CCT>CTT		myeloid/lymphoid or mixed-lineage leukemia							55.0	52.0	53.0					4																	88056849		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88056849C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3629C>T	4.37:g.88056849C>T	ENSP00000305689:p.Pro1210Leu					AFF1_uc011ccz.1_Missense_Mutation_p.P1218L|AFF1_uc003hqk.3_Missense_Mutation_p.P1211L|AFF1_uc011cda.1_Missense_Mutation_p.P849L	p.P1210L	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	20	4036	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1210					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3629C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872754	0.33069	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.76448	-0.32;-0.31;-1.02	5.51	4.65	0.58169	.	0.195497	0.36338	N	0.002655	T	0.66886	0.2835	N	0.25380	0.74	0.53688	D	0.999974	B;B;B	0.21753	0.06;0.06;0.06	B;B;B	0.20577	0.03;0.03;0.03	T	0.66685	-0.5861	10	0.87932	D	0	-0.0579	13.2333	0.59955	0.0:0.9213:0.0:0.0787	.	1218;1211;1210	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	L	1218;1210;849	ENSP00000378578:P1218L;ENSP00000305689:P1210L;ENSP00000440843:P849L	ENSP00000305689:P1210L	P	+	2	0	AFF1	88275873	1.000000	0.71417	0.984000	0.44739	0.158000	0.22134	1.991000	0.40727	2.746000	0.94184	0.655000	0.94253	CCT		PASS	0.453	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		7	11	7	11	---	---	---	---
KLHL8	57563	broad.mit.edu	37	4	88106539	88106539	+	Missense_Mutation	SNP	G	G	T	rs368394185		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88106539G>T	ENST00000273963.5	-	3	970	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	KLHL8_ENST00000498875.2_Missense_Mutation_p.P134Q|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.P210Q	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	210	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.P210Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGGTGCTGCGGTGATACACT	0.423																																						uc011cdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)CCG>CAG		kelch-like 8							141.0	133.0	135.0					4																	88106539		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88106539G>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.629C>A	4.37:g.88106539G>T	ENSP00000273963:p.Pro210Gln					KLHL8_uc003hql.1_Missense_Mutation_p.P210Q|KLHL8_uc003hqm.1_Missense_Mutation_p.P134Q|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	p.P210Q	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	3	1014	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	210					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.629C>A	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679388	0.88542	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000512111	T;T;T	0.68479	-0.33;-0.33;-0.33	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.37630	1.12	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.67103	0.891;0.949	T	0.67933	-0.5542	10	0.21540	T	0.41	.	19.7705	0.96361	0.0:0.0:1.0:0.0	.	134;210	Q6N018;Q9P2G9	.;KLHL8_HUMAN	Q	210;134;210	ENSP00000273963:P210Q;ENSP00000426451:P134Q;ENSP00000424131:P210Q	ENSP00000273963:P210Q	P	-	2	0	KLHL8	88325563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.410000	0.97335	2.669000	0.90835	0.655000	0.94253	CCG		PASS	0.423	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			4	108	4	108	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88532087	88532087	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88532087T>G	ENST00000282478.7	+	1	60	c.27T>G	c.(25-27)atT>atG	p.I9M	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.I9M			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	9					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.I9M(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATTTTTGCATTTGGGCAGTAG	0.299																																						uc003hqu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(25-27)ATT>ATG		dentin sialophosphoprotein preproprotein							110.0	107.0	108.0					4																	88532087		1830	4084	5914	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88532087T>G	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.27T>G	4.37:g.88532087T>G	ENSP00000282478:p.Ile9Met						p.I9M	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	2	147	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	9					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.27T>G	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994918	0.35226	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.92699	-3.09;-3.09	4.94	2.58	0.30949	.	0.000000	0.33253	N	0.005101	D	0.91637	0.7357	L	0.32530	0.975	0.25320	N	0.989126	D	0.76494	0.999	D	0.87578	0.998	T	0.82914	-0.0221	10	0.87932	D	0	-16.3232	5.9459	0.19219	0.0:0.2011:0.0:0.7989	.	9	Q9NZW4	DSPP_HUMAN	M	9	ENSP00000382213:I9M;ENSP00000282478:I9M	ENSP00000282478:I9M	I	+	3	3	DSPP	88751111	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.805000	0.27112	1.018000	0.39521	-0.385000	0.06624	ATT		PASS	0.299	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		20	37	20	37	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732595	88732595	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88732595G>A	ENST00000226284.5	+	7	554	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	163	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.E163K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		aaatgaaaacgaagaaagcga	0.453																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GAA>AAA		integrin-binding sialoprotein precursor							130.0	121.0	124.0					4																	88732595		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732595G>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.487G>A	4.37:g.88732595G>A	ENSP00000226284:p.Glu163Lys						p.E163K	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	585	+		Hepatocellular(203;0.114)	163			Asp/Glu-rich (acidic).			Missense_Mutation	SNP	ENST00000226284.5	37	c.487G>A	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354749	0.41700	.	.	ENSG00000029559	ENST00000226284	T	0.19806	2.12	4.68	2.9	0.33743	.	0.640042	0.14952	N	0.288866	T	0.17704	0.0425	L	0.54323	1.7	0.41372	D	0.987498	P	0.35575	0.51	B	0.27715	0.082	T	0.05500	-1.0881	10	0.39692	T	0.17	.	10.0515	0.42219	0.1724:0.0:0.8276:0.0	.	163	P21815	SIAL_HUMAN	K	163	ENSP00000226284:E163K	ENSP00000226284:E163K	E	+	1	0	IBSP	88951619	1.000000	0.71417	0.972000	0.41901	0.825000	0.46686	3.100000	0.50275	1.097000	0.41459	0.591000	0.81541	GAA		PASS	0.453	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			25	34	25	34	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88732970	88732970	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88732970G>A	ENST00000226284.5	+	7	929	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	288					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.D288N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCTCGTGGGGACAATTACCG	0.478																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)GAC>AAC		integrin-binding sialoprotein precursor							75.0	73.0	74.0					4																	88732970		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732970G>A		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.862G>A	4.37:g.88732970G>A	ENSP00000226284:p.Asp288Asn						p.D288N	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	960	+		Hepatocellular(203;0.114)	288			Cell attachment site.			Missense_Mutation	SNP	ENST00000226284.5	37	c.862G>A	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757487	0.89843	.	.	ENSG00000029559	ENST00000226284	T	0.21932	1.98	5.36	5.36	0.76844	.	0.079158	0.53938	D	0.000052	T	0.49474	0.1559	M	0.79475	2.455	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.52779	-0.8530	10	0.87932	D	0	.	16.8805	0.86061	0.0:0.0:1.0:0.0	.	288	P21815	SIAL_HUMAN	N	288	ENSP00000226284:D288N	ENSP00000226284:D288N	D	+	1	0	IBSP	88951994	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.986000	0.70563	2.507000	0.84556	0.591000	0.81541	GAC		PASS	0.478	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			30	59	30	59	---	---	---	---
SPP1	6696	broad.mit.edu	37	4	88902860	88902860	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88902860C>T	ENST00000395080.3	+	6	577	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Silent_p.V136V|SPP1_ENST00000360804.4_Silent_p.V123V	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	150					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)	p.V150V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CTCCAGTTGTCCCCACAGTAG	0.468																																						uc003hra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(448-450)GTC>GTT		secreted phosphoprotein 1 isoform a							175.0	161.0	166.0					4																	88902860		2203	4300	6503	SO:0001819	synonymous_variant	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88902860C>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.450C>T	4.37:g.88902860C>T						SPP1_uc003hrb.2_Silent_p.V123V|SPP1_uc003hrc.2_Silent_p.V136V|SPP1_uc011cde.1_Silent_p.V163V|SPP1_uc003hrd.2_Silent_p.V109V	p.V150V	NM_001040058	NP_001035147	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	615	+		Hepatocellular(203;0.114)	150					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	ENST00000395080.3	37	c.450C>T	CCDS43250.1																																																																																				PASS	0.468	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			36	85	36	85	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88957445	88957445	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:88957445C>A	ENST00000237596.2	+	3	849	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P261P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TAGACACCCCCGTGTCCAAAA	0.433																																						uc003hre.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(781-783)CCC>CCA		polycystin 2							137.0	129.0	132.0					4																	88957445		2203	4300	6503	SO:0001819	synonymous_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88957445C>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.783C>A	4.37:g.88957445C>A							p.P261P	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	3	849	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	261			Extracellular (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000237596.2	37	c.783C>A	CCDS3627.1																																																																																				PASS	0.433	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		4	78	4	78	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89383489	89383489	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:89383489G>A	ENST00000264350.3	+	4	823	c.670G>A	c.(670-672)Ggc>Agc	p.G224S		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	224					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G224S(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGGACAACTAGGCCTGGGCCA	0.438																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(670-672)GGC>AGC		hect domain and RLD 5							64.0	63.0	63.0					4																	89383489		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89383489G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.670G>A	4.37:g.89383489G>A	ENSP00000264350:p.Gly224Ser						p.G224S	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	4	823	+		Hepatocellular(203;0.114)	224			RCC1 3.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.670G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894220	0.91889	.	.	ENSG00000138646	ENST00000264350	D	0.98732	-5.1	4.48	4.48	0.54585	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000009	D	0.99393	0.9786	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98417	1.0575	10	0.72032	D	0.01	.	17.3024	0.87186	0.0:0.0:1.0:0.0	.	224	Q9UII4	HERC5_HUMAN	S	224	ENSP00000264350:G224S	ENSP00000264350:G224S	G	+	1	0	HERC5	89602512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.554000	0.90689	2.494000	0.84150	0.650000	0.86243	GGC		PASS	0.438	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		13	35	13	35	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89591352	89591352	+	Silent	SNP	C	C	T	rs556078295	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:89591352C>T	ENST00000402738.1	+	16	2099	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	HERC3_ENST00000543130.1_Silent_p.L64L|HERC3_ENST00000264345.3_Silent_p.L620L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	620					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L620L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTTCCAATCTCGTGGACATTC	0.338													C|||	2	0.000399361	0.0	0.0	5008	,	,		20695	0.001		0.0	False		,,,				2504	0.001					uc003hrw.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(1858-1860)CTC>CTT		hect domain and RLD 3							131.0	127.0	128.0					4																	89591352		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89591352C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1860C>T	4.37:g.89591352C>T						HERC3_uc011cdn.1_Silent_p.L502L|HERC3_uc011cdo.1_Silent_p.L64L	p.L620L	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	16	2026	+			620					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1860C>T	CCDS34028.1																																																																																				PASS	0.338	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		23	55	23	55	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89627996	89627996	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:89627996C>T	ENST00000402738.1	+	26	3277	c.3038C>T	c.(3037-3039)cCg>cTg	p.P1013L	FAM13A-AS1_ENST00000500765.1_RNA|HERC3_ENST00000543130.1_Missense_Mutation_p.P457L|HERC3_ENST00000264345.3_Missense_Mutation_p.P1013L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1013	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P1013L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAGTACTTGCCGGTGGCCCAC	0.577											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003hrw.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(3037-3039)CCG>CTG		hect domain and RLD 3							101.0	93.0	96.0					4																	89627996		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89627996C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.3038C>T	4.37:g.89627996C>T	ENSP00000385684:p.Pro1013Leu		OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1268	HERC3_uc011cdn.1_Missense_Mutation_p.P895L|HERC3_uc011cdo.1_Missense_Mutation_p.P457L|FAM13AOS_uc003hry.1_5'Flank	p.P1013L	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	26	3204	+			1013			HECT.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.3038C>T	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078501	0.94000	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130	D;D;D	0.83992	-1.79;-1.79;-1.79	4.93	4.93	0.64822	HECT (4);	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97078	0.9782	10	0.87932	D	0	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	1013	Q15034	HERC3_HUMAN	L	1013;1013;457	ENSP00000385684:P1013L;ENSP00000264345:P1013L;ENSP00000441703:P457L	ENSP00000264345:P1013L	P	+	2	0	HERC3	89847019	1.000000	0.71417	0.939000	0.37840	0.862000	0.49288	7.578000	0.82498	2.713000	0.92767	0.655000	0.94253	CCG		PASS	0.577	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		15	46	15	46	---	---	---	---
MMRN1	22915	broad.mit.edu	37	4	90857133	90857133	+	Missense_Mutation	SNP	G	G	A	rs181701315		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:90857133G>A	ENST00000394980.1	+	7	2621	c.2302G>A	c.(2302-2304)Gat>Aat	p.D768N	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.D768N|MMRN1_ENST00000508372.1_Missense_Mutation_p.D510N			Q13201	MMRN1_HUMAN	multimerin 1	768					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.D768N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGTACCTCCGATATGGAAAC	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19786	0.0		0.0	False		,,,				2504	0.0					uc003hst.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2302-2304)GAT>AAT		multimerin 1							64.0	62.0	63.0					4																	90857133		2202	4296	6498	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857133G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2302G>A	4.37:g.90857133G>A	ENSP00000378431:p.Asp768Asn					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D510N	p.D768N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2373	+		Hepatocellular(203;0.114)	768					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2302G>A	CCDS3635.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0	-2.768208	0.00081	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.62941	0.36;0.36;-0.01	4.85	1.01	0.19927	.	0.348037	0.26863	N	0.022101	T	0.17874	0.0429	N	0.00246	-1.78	0.27579	N	0.949658	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	10	0.02654	T	1	.	7.1896	0.25818	0.715:0.1236:0.1613:0.0	.	768	Q13201	MMRN1_HUMAN	N	768;768;510	ENSP00000378431:D768N;ENSP00000264790:D768N;ENSP00000426461:D510N	ENSP00000264790:D768N	D	+	1	0	MMRN1	91076156	1.000000	0.71417	0.200000	0.23457	0.005000	0.04900	1.363000	0.34159	0.056000	0.16144	-0.143000	0.13931	GAT		PASS	0.313	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		19	28	19	28	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140178	96140178	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:96140178G>A	ENST00000453304.1	-	9	1935	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	UNC5C_ENST00000506749.1_Silent_p.S548S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	529	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.S529S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCGGTACAGGATGGATCAG	0.488																																						uc003htp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1585-1587)TCC>TCT		unc5C precursor							136.0	107.0	117.0					4																	96140178		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140178G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1587C>T	4.37:g.96140178G>A						UNC5C_uc010ilc.1_Silent_p.S548S|UNC5C_uc003htq.2_Silent_p.S548S	p.S529S	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1741	-		Hepatocellular(203;0.114)	529			Cytoplasmic (Potential).|ZU5.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1587C>T	CCDS3643.1																																																																																				PASS	0.488	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		23	51	23	51	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96163714	96163714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:96163714C>T	ENST00000453304.1	-	7	1322	c.974G>A	c.(973-975)tGg>tAg	p.W325*	UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W325*	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	325	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.W325*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACAAGTAGACCACTTGCTCCA	0.597																																						uc003htp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(973-975)TGG>TAG		unc5C precursor							33.0	27.0	29.0					4																	96163714		2203	4300	6503	SO:0001587	stop_gained	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163714C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.974G>A	4.37:g.96163714C>T	ENSP00000406022:p.Trp325*					UNC5C_uc010ilc.1_Nonsense_Mutation_p.W325*|UNC5C_uc003htq.2_Nonsense_Mutation_p.W325*	p.W325*	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1128	-		Hepatocellular(203;0.114)	325			Extracellular (Potential).|TSP type-1 2.		Q8IUT0	Nonsense_Mutation	SNP	ENST00000453304.1	37	c.974G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	40	8.463216	0.98822	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0716	0.93140	0.0:1.0:0.0:0.0	.	.	.	.	X	325;284;325;325	.	ENSP00000328673:W284X	W	-	2	0	UNC5C	96382737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.536000	0.82023	2.805000	0.96524	0.655000	0.94253	TGG		PASS	0.597	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	13	7	13	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96256570	96256570	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:96256570C>T	ENST00000453304.1	-	2	685	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	UNC5C_ENST00000504962.1_Missense_Mutation_p.E113K|UNC5C_ENST00000506749.1_Missense_Mutation_p.E113K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	113	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.E113K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCGGAAGTTTCATCTACTCTT	0.398																																						uc003htp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(337-339)GAA>AAA		unc5C precursor							123.0	121.0	122.0					4																	96256570		2203	4299	6502	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256570C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.337G>A	4.37:g.96256570C>T	ENSP00000406022:p.Glu113Lys					UNC5C_uc010ilc.1_Missense_Mutation_p.E113K|UNC5C_uc003htq.2_Missense_Mutation_p.E113K	p.E113K	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	2	491	-		Hepatocellular(203;0.114)	113			Extracellular (Potential).|Ig-like.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.337G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378717	0.82682	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.053211	0.85682	D	0.000000	T	0.49287	0.1548	L	0.56769	1.78	0.58432	D	0.999998	B;D;P	0.69078	0.439;0.997;0.956	B;D;D	0.73380	0.165;0.98;0.931	T	0.08126	-1.0737	10	0.28530	T	0.3	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	113;113;113	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	113;72;113;113;113	ENSP00000406022:E113K;ENSP00000426924:E113K;ENSP00000426153:E113K;ENSP00000425117:E113K	ENSP00000328673:E72K	E	-	1	0	UNC5C	96475593	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	5.882000	0.69714	2.880000	0.98712	0.650000	0.86243	GAA		PASS	0.398	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		12	40	12	40	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96762081	96762081	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:96762081T>C	ENST00000295266.4	+	1	843	c.780T>C	c.(778-780)gtT>gtC	p.V260V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	260					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.V260V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTCTGTGTGTTCGTGAGGCAA	0.478																																						uc003htr.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(778-780)GTT>GTC		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						148.0	147.0	148.0					4																	96762081		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762081T>C		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.780T>C	4.37:g.96762081T>C							p.V260V	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	843	+		Hepatocellular(203;0.114)	260					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.780T>C	CCDS3644.1																																																																																				PASS	0.478	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			32	37	32	37	---	---	---	---
TSPAN5	10098	broad.mit.edu	37	4	99403161	99403161	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:99403161C>T	ENST00000305798.3	-	4	847	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.E78K	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	149					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.E149K(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CTTACATATTCCTGGGTGAAG	0.403																																						uc003hub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)GAA>AAA		transmembrane 4 superfamily member 9							132.0	133.0	133.0					4																	99403161		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99403161C>T		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.445G>A	4.37:g.99403161C>T	ENSP00000307701:p.Glu149Lys					TSPAN5_uc011cdz.1_Missense_Mutation_p.E78K	p.E149K	NM_005723	NP_005714	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	4	795	-			149			Extracellular (Potential).		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.445G>A	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069719	0.55539	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287	T;T;T	0.79352	-1.26;-1.26;-1.26	5.94	5.94	0.96194	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	N	0.10782	0.045	0.80722	D	1	B	0.24920	0.114	B	0.30251	0.113	T	0.59952	-0.7357	10	0.12103	T	0.63	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	149	P62079	TSN5_HUMAN	K	149;78;78	ENSP00000307701:E149K;ENSP00000423916:E78K;ENSP00000423504:E78K	ENSP00000307701:E149K	E	-	1	0	TSPAN5	99622184	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.662000	0.83803	2.820000	0.97059	0.650000	0.86243	GAA		PASS	0.403	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		15	63	15	63	---	---	---	---
EIF4E	1977	broad.mit.edu	37	4	99823128	99823128	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:99823128G>A	ENST00000450253.2	-	2	1548	c.24C>T	c.(22-24)acC>acT	p.T8T	EIF4E_ENST00000504432.1_Silent_p.T36T|EIF4E_ENST00000505992.1_Silent_p.T8T|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Silent_p.T28T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	8					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.T8T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GAGTAGGGGTGGTTTCCTAGT	0.358																																						uc003hue.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(22-24)ACC>ACT		eukaryotic translation initiation factor 4E							102.0	108.0	106.0					4																	99823128		2203	4299	6502	SO:0001819	synonymous_variant	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823128G>A	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.24C>T	4.37:g.99823128G>A						EIF4E_uc011cea.1_Silent_p.T28T|EIF4E_uc011ceb.1_Silent_p.T8T|EIF4E_uc011cec.1_Silent_p.T8T	p.T8T	NM_001968	NP_001959	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1547	-			8					B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.24C>T	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197121	0.22037	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	T	0.65739	0.2720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61903	-0.6967	4	.	.	.	-10.0347	13.3757	0.60736	0.0725:0.0:0.9275:0.0	.	.	.	.	Y	5	.	.	H	-	1	0	EIF4E	100042151	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.848000	0.62874	2.932000	0.99384	0.643000	0.83706	CAC		PASS	0.358	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		18	72	18	72	---	---	---	---
ADH6	130	broad.mit.edu	37	4	100131365	100131365	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:100131365G>A	ENST00000237653.7	-	5	825	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ADH6_ENST00000394897.1_Silent_p.F147F|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Silent_p.F147F|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	147					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.F147F(2)|p.F147L(1)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TGTATTCACAGAAGGTGCTGG	0.413																																						uc003hup.3																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(2)|large_intestine(1)	ovary(1)|kidney(1)|skin(1)	3						c.(439-441)TTC>TTT		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						112.0	109.0	110.0					4																	100131365		2203	4300	6503	SO:0001819	synonymous_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131365G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.441C>T	4.37:g.100131365G>A						uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.F147F|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Silent_p.F147F	p.F147F	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	5	535	-			147					B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	c.441C>T	CCDS3647.1																																																																																				PASS	0.413	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		20	36	20	36	---	---	---	---
ADH1A	124	broad.mit.edu	37	4	100200657	100200657	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:100200657C>T	ENST00000209668.2	-	8	1142	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	343					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.L343L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTAATGCATCCAATGAAAACT	0.323																																						uc003hur.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1027-1029)TTG>TTA		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						101.0	104.0	103.0					4																	100200657		2203	4298	6501	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100200657C>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.1029G>A	4.37:g.100200657C>T						uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.L343L	p.L343L	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	8	1100	-			343					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.1029G>A	CCDS3648.1																																																																																				PASS	0.323	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		21	55	21	55	---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101109073	101109073	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:101109073C>T	ENST00000273990.2	-	3	557	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	115					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.E115K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CATACATTTTCAATTTCCAAG	0.458																																						uc003hvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)GAA>AAA		DNA-damage-inducible transcript 4-like							110.0	101.0	104.0					4																	101109073		2203	4300	6503	SO:0001583	missense	115265				negative regulation of signal transduction	cytoplasm		g.chr4:101109073C>T	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.343G>A	4.37:g.101109073C>T	ENSP00000354830:p.Glu115Lys						p.E115K	NM_145244	NP_660287	Q96D03	DDT4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	3	546	-			115					B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	c.343G>A	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421617	0.62622	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T;T	0.50813	0.73;0.73;0.73	5.63	5.63	0.86233	.	0.275088	0.36628	N	0.002490	T	0.52306	0.1726	M	0.64404	1.975	0.41694	D	0.989366	B	0.26708	0.157	B	0.33392	0.163	T	0.50381	-0.8835	10	0.44086	T	0.13	-16.2875	18.4811	0.90812	0.0:1.0:0.0:0.0	.	115	Q96D03	DDT4L_HUMAN	K	115	ENSP00000354830:E115K;ENSP00000427301:E115K;ENSP00000427040:E115K	ENSP00000354830:E115K	E	-	1	0	DDIT4L	101328096	0.993000	0.37304	0.972000	0.41901	0.992000	0.81027	6.270000	0.72563	2.652000	0.90054	0.655000	0.94253	GAA		PASS	0.458	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		19	39	19	39	---	---	---	---
DDIT4L	115265	broad.mit.edu	37	4	101109182	101109182	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:101109182G>A	ENST00000273990.2	-	3	448	c.234C>T	c.(232-234)gtC>gtT	p.V78V	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	78					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.V78V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CAGGGACAAGGACCTTTGAGC	0.463																																						uc003hvq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(232-234)GTC>GTT		DNA-damage-inducible transcript 4-like							145.0	140.0	142.0					4																	101109182		2203	4300	6503	SO:0001819	synonymous_variant	115265				negative regulation of signal transduction	cytoplasm		g.chr4:101109182G>A	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.234C>T	4.37:g.101109182G>A							p.V78V	NM_145244	NP_660287	Q96D03	DDT4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	3	437	-			78					B2R7C3	Silent	SNP	ENST00000273990.2	37	c.234C>T	CCDS34036.1																																																																																				PASS	0.463	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244		48	83	48	83	---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103455017	103455017	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:103455017T>C	ENST00000505458.1	+	4	408	c.131T>C	c.(130-132)cTt>cCt	p.L44P	NFKB1_ENST00000394820.4_Missense_Mutation_p.L44P|NFKB1_ENST00000226574.4_Missense_Mutation_p.L45P			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	44	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L45P(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGCCCATACCTTCAAATATTA	0.338																																						uc011ceq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(130-132)CTT>CCT		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						100.0	98.0	99.0					4																	103455017		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103455017T>C	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.131T>C	4.37:g.103455017T>C	ENSP00000424790:p.Leu44Pro					NFKB1_uc011cep.1_Missense_Mutation_p.L45P	p.L44P	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	4	598	+		Hepatocellular(203;0.217)	44			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.131T>C	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838996	0.71373	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000511926;ENST00000507079;ENST00000505458;ENST00000509165	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.16	5.16	0.70880	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.182670	0.35040	N	0.003498	T	0.76652	0.4017	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.80507	-0.1352	10	0.87932	D	0	.	12.5358	0.56140	0.0:0.0:0.0:1.0	.	44;45	P19838;P19838-2	NFKB1_HUMAN;.	P	45;44;52;53;44;45	ENSP00000226574:L45P;ENSP00000378297:L44P;ENSP00000420904:L52P;ENSP00000426147:L53P;ENSP00000424790:L44P;ENSP00000423877:L45P	ENSP00000226574:L45P	L	+	2	0	NFKB1	103674047	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.206000	0.72154	1.947000	0.56498	0.383000	0.25322	CTT		PASS	0.338	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			9	25	9	25	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109769932	109769932	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:109769932C>T	ENST00000399132.1	-	27	1947	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G446R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G473R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G473R(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)		CCATCCATTCCTGGGATTCCT	0.353																																						uc003hze.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1417-1419)GGA>AGA		collagen, type XXV, alpha 1 isoform 1							119.0	107.0	110.0					4																	109769932		1832	4085	5917	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109769932C>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.1417G>A	4.37:g.109769932C>T	ENSP00000382083:p.Gly473Arg					COL25A1_uc003hzg.2_Missense_Mutation_p.G473R|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G231R	p.G473R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	26	1948	-		Hepatocellular(203;0.217)	473			Extracellular (Potential).|Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1417G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323919	0.41096	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99186	-5.53;-5.53;-5.53	5.01	5.01	0.66863	.	0.109451	0.64402	D	0.000008	D	0.99677	0.9879	H	0.99650	4.68	0.50313	D	0.999866	D;D	0.89917	1.0;1.0	D;D	0.91635	0.984;0.999	D	0.97060	0.9770	9	.	.	.	-6.4476	16.4954	0.84238	0.0:1.0:0.0:0.0	.	473;473	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	473;475;454;446;473;403	ENSP00000382083:G473R;ENSP00000382078:G446R;ENSP00000382077:G473R	.	G	-	1	0	COL25A1	109989381	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	4.635000	0.61332	2.494000	0.84150	0.552000	0.68991	GGA		PASS	0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		23	35	23	35	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113353610	113353610	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:113353610C>T	ENST00000458497.1	+	11	3186	c.2907C>T	c.(2905-2907)atC>atT	p.I969I	ALPK1_ENST00000177648.9_Silent_p.I969I|ALPK1_ENST00000504176.2_Silent_p.I891I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	969							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I969M(1)|p.I969I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGAAAGAGATCCTTGAGGCTC	0.488																																						uc003iap.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(5)	5						c.(2905-2907)ATC>ATT		alpha-kinase 1							81.0	83.0	82.0					4																	113353610		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353610C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2907C>T	4.37:g.113353610C>T						ALPK1_uc003ian.3_Silent_p.I969I|ALPK1_uc011cfx.1_Silent_p.I891I|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.I797I	p.I969I	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	3186	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	969					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.2907C>T	CCDS3697.1																																																																																				PASS	0.488	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		22	56	22	56	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114257063	114257063	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:114257063C>T	ENST00000357077.4	+	30	3494	c.3441C>T	c.(3439-3441)ttC>ttT	p.F1147F	ANK2_ENST00000506722.1_Silent_p.F1138F|ANK2_ENST00000394537.3_Silent_p.F1147F|ANK2_ENST00000264366.6_Silent_p.F1114F|ANK2_ENST00000509550.1_Silent_p.F323F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1147	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.F1147F(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCGAGACTTCCCACAGTACT	0.498																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3439-3441)TTC>TTT		ankyrin 2 isoform 1							116.0	112.0	113.0					4																	114257063		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114257063C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3441C>T	4.37:g.114257063C>T						ANK2_uc003ibd.3_Silent_p.F1138F|ANK2_uc003ibf.3_Silent_p.F1147F|ANK2_uc011cgc.1_Silent_p.F323F|ANK2_uc003ibg.3_Silent_p.F142F|ANK2_uc003ibc.2_Silent_p.F1123F|ANK2_uc011cgb.1_Silent_p.F1162F	p.F1147F	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3541	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1114			Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3441C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112081	0.20795	.	.	ENSG00000145362	ENST00000514960	.	.	.	4.97	3.24	0.37175	.	.	.	.	.	T	0.59238	0.2179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	.	9.6638	0.39972	0.0:0.7739:0.0:0.2261	.	.	.	.	S	160	.	.	P	+	1	0	ANK2	114476512	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.026000	0.57232	0.611000	0.30052	-0.140000	0.14226	CCC		PASS	0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		33	65	33	65	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278065	114278065	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:114278065G>A	ENST00000357077.4	+	38	8344	c.8291G>A	c.(8290-8292)aGa>aAa	p.R2764K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2731K|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2764					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2764K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTAAACAGAGACACTGAT	0.468																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8290-8292)AGA>AAA		ankyrin 2 isoform 1							78.0	71.0	73.0					4																	114278065		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278065G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8291G>A	4.37:g.114278065G>A	ENSP00000349588:p.Arg2764Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R66K|ANK2_uc011cgb.1_Missense_Mutation_p.R2779K	p.R2764K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8391	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2731					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8291G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955140	0.34471	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65549	-0.15;-0.16	5.93	1.71	0.24356	.	0.429029	0.21468	N	0.074044	T	0.48114	0.1482	L	0.45581	1.43	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27905	-1.0060	9	.	.	.	.	6.5965	0.22677	0.1822:0.4534:0.3644:0.0	.	2731;2764	Q01484;Q01484-4	ANK2_HUMAN;.	K	2764;2731	ENSP00000349588:R2764K;ENSP00000264366:R2731K	.	R	+	2	0	ANK2	114497514	0.582000	0.26749	0.005000	0.12908	0.165000	0.22458	1.181000	0.32017	0.805000	0.34159	0.655000	0.94253	AGA		PASS	0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	48	30	48	---	---	---	---
CAMK2D	817	broad.mit.edu	37	4	114680559	114680559	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:114680559G>A	ENST00000342666.5	-	2	76	c.77C>T	c.(76-78)tCa>tTa	p.S26L	CAMK2D_ENST00000394524.3_Missense_Mutation_p.S26L|CAMK2D_ENST00000418639.2_Missense_Mutation_p.S26L|CAMK2D_ENST00000394522.3_Missense_Mutation_p.S26L|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000379773.2_Missense_Mutation_p.S26L|CAMK2D_ENST00000296402.5_Missense_Mutation_p.S26L|CAMK2D_ENST00000511664.1_Missense_Mutation_p.S26L|CAMK2D_ENST00000508738.1_Missense_Mutation_p.S26L|CAMK2D_ENST00000515496.1_Missense_Mutation_p.S26L|CAMK2D_ENST00000394526.2_Missense_Mutation_p.S26L|CAMK2D_ENST00000454265.2_Missense_Mutation_p.S26L|CAMK2D_ENST00000429180.1_Missense_Mutation_p.S26L|CAMK2D_ENST00000514328.1_Missense_Mutation_p.S26L|CAMK2D_ENST00000505990.1_Missense_Mutation_p.S26L			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	26	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)	p.S26L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCTCACCACTGAGAATGCCCC	0.323																																						uc003ibi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)TCA>TTA		calcium/calmodulin-dependent protein kinase II							91.0	92.0	91.0					4																	114680559		2203	4300	6503	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114680559G>A	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.77C>T	4.37:g.114680559G>A	ENSP00000339740:p.Ser26Leu					CAMK2D_uc003ibj.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibk.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibo.3_Missense_Mutation_p.S26L|CAMK2D_uc003ibm.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibn.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibl.2_Missense_Mutation_p.S26L	p.S26L	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	2	936	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	26			ATP (By similarity).|Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.77C>T	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681942	0.88542	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000020	T	0.65544	0.2701	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999	T	0.74940	-0.3493	10	0.87932	D	0	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	26;26;26;26;26	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	L	26	ENSP00000378032:S26L;ENSP00000415248:S26L;ENSP00000415707:S26L;ENSP00000406131:S26L;ENSP00000378034:S26L;ENSP00000296402:S26L;ENSP00000425824:S26L;ENSP00000339740:S26L;ENSP00000423482:S26L;ENSP00000423677:S26L;ENSP00000378030:S26L;ENSP00000424245:S26L;ENSP00000369098:S26L;ENSP00000422566:S26L	ENSP00000296402:S26L	S	-	2	0	CAMK2D	114900008	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.334000	0.96470	2.762000	0.94881	0.467000	0.42956	TCA		PASS	0.323	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			20	59	20	59	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119158208	119158208	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:119158208G>A	ENST00000296499.5	+	10	2354	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	NDST3_ENST00000433996.2_Missense_Mutation_p.G555E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	651	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D651N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAGGTATATGGATTTCTTCCC	0.378																																						uc003ibx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1951-1953)GAT>AAT		N-deacetylase/N-sulfotransferase (heparan							82.0	82.0	82.0					4																	119158208		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119158208G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1951G>A	4.37:g.119158208G>A	ENSP00000296499:p.Asp651Asn					NDST3_uc011cgf.1_Missense_Mutation_p.G555E	p.D651N	NM_004784	NP_004775	O95803	NDST3_HUMAN			10	2354	+			651			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1951G>A	CCDS3708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.983535|3.983535	0.74474|0.74474	.|.	.|.	ENSG00000164100|ENSG00000164100	ENST00000296499|ENST00000433996	T|T	0.54866|0.54071	0.55|0.59	6.03|6.03	6.03|6.03	0.97812|0.97812	Sulfotransferase domain (1);|.	0.180092|.	0.51477|.	D|.	0.000085|.	T|T	0.51312|0.51312	0.1667|0.1667	L|L	0.46947|0.46947	1.48|1.48	0.47407|0.47407	D|D	0.999411|0.999411	P|B	0.45126|0.33280	0.851|0.405	P|B	0.51550|0.31614	0.673|0.133	T|T	0.52653|0.52653	-0.8547|-0.8547	10|9	0.48119|0.87932	T|D	0.1|0	.|.	20.5666|20.5666	0.99351|0.99351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	651|555	O95803|B4DI67	NDST3_HUMAN|.	N|E	651|555	ENSP00000296499:D651N|ENSP00000396625:G555E	ENSP00000296499:D651N|ENSP00000396625:G555E	D|G	+|+	1|2	0|0	NDST3|NDST3	119377656|119377656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.312000|9.312000	0.96287|0.96287	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|GGA		PASS	0.378	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		11	22	11	22	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119952491	119952491	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:119952491T>C	ENST00000429713.2	+	4	2743	c.2561T>C	c.(2560-2562)gTt>gCt	p.V854A	SYNPO2_ENST00000307142.4_Missense_Mutation_p.V854A|SYNPO2_ENST00000434046.2_Missense_Mutation_p.V854A|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	854						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.V854A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCAATGCTGTTCAGCCTGGT	0.502																																						uc003icm.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2560-2562)GTT>GCT		synaptopodin 2 isoform b							107.0	109.0	109.0					4																	119952491		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952491T>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2561T>C	4.37:g.119952491T>C	ENSP00000395143:p.Val854Ala					SYNPO2_uc010ina.2_Missense_Mutation_p.V854A|SYNPO2_uc010inb.2_Missense_Mutation_p.V854A|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.V782A	p.V854A	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2757	+			854					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2561T>C	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.357425	0.00214	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.07327	3.2;3.21;3.21	5.65	3.92	0.45320	.	0.422204	0.20007	N	0.101210	T	0.02267	0.0070	N	0.01048	-1.04	0.19775	N	0.999956	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44772	-0.9306	9	.	.	.	-2.8658	5.0387	0.14447	0.0:0.6185:0.1697:0.2118	.	854;854;854;854	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	A	854	ENSP00000306015:V854A;ENSP00000395143:V854A;ENSP00000390965:V854A	.	V	+	2	0	SYNPO2	120171939	0.026000	0.19158	0.006000	0.13384	0.381000	0.30169	0.642000	0.24735	0.740000	0.32651	-0.132000	0.14878	GTT		PASS	0.502	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			26	86	26	86	---	---	---	---
MYOZ2	51778	broad.mit.edu	37	4	120085491	120085491	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:120085491C>T	ENST00000307128.5	+	5	715	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_016599.4	NP_057683.1			myozenin 2									p.P168S(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGCTTTATATCCTAAACTTTT	0.443																																						uc003icp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CCT>TCT		myozenin 2							70.0	70.0	70.0					4																	120085491		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120085491C>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.502C>T	4.37:g.120085491C>T	ENSP00000306997:p.Pro168Ser						p.P168S	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			5	715	+			168						Missense_Mutation	SNP	ENST00000307128.5	37	c.502C>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923692	0.73213	.	.	ENSG00000172399	ENST00000307128	T	0.61859	0.07	5.96	5.96	0.96718	.	0.160083	0.56097	D	0.000022	T	0.62720	0.2451	L	0.50333	1.59	0.45427	D	0.998405	D	0.54601	0.967	P	0.50537	0.643	T	0.54214	-0.8327	10	0.18710	T	0.47	-13.9339	20.4008	0.98991	0.0:1.0:0.0:0.0	.	168	Q9NPC6	MYOZ2_HUMAN	S	168	ENSP00000306997:P168S	ENSP00000306997:P168S	P	+	1	0	MYOZ2	120304939	0.986000	0.35501	0.962000	0.40283	0.926000	0.56050	2.102000	0.41796	2.826000	0.97356	0.655000	0.94253	CCT		PASS	0.443	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2			24	28	24	28	---	---	---	---
ANXA5	308	broad.mit.edu	37	4	122591138	122591139	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:122591138_122591139GG>AA	ENST00000296511.5	-	11	1035_1036	c.750_751CC>TT	c.(748-753)taCCtt>taTTtt	p.L251F	ANXA5_ENST00000515017.1_Missense_Mutation_p.L151F|ANXA5_ENST00000501272.2_Missense_Mutation_p.L191F	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	251					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)	p.L251F(2)|p.Y250Y(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GTCTCTGCAAGGTAGGCAGGTA	0.297																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	uc003idu.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(751-753)CTT>TTT|c.(748-750)TAC>TAT		annexin 5																																				SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122591138G>A|g.chr4:122591139G>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.750_751delinsAA	4.37:g.122591138_122591139delinsAA	ENSP00000296511:p.Leu251Phe					ANXA5_uc003idv.3_Missense_Mutation_p.L251F|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.L251F|ANXA5_uc010inn.2_Missense_Mutation_p.L191F|ANXA5_uc010ino.2_Missense_Mutation_p.L151F|ANXA5_uc003idv.3_Silent_p.Y250Y|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Silent_p.Y250Y|ANXA5_uc010inn.2_Silent_p.Y190Y|ANXA5_uc010ino.2_Silent_p.Y150Y	p.L251F|p.Y250Y	NM_001154	NP_001145	P08758	ANXA5_HUMAN			10	821|820	-			251|250					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation|Silent	SNP	ENST00000296511.5	37	c.751C>T|c.750C>T	CCDS3720.1																																																																																				PASS	0.297	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		13	35	13	35	---	---	---	---
TMEM155	132332	broad.mit.edu	37	4	122682999	122682999	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:122682999G>T	ENST00000337677.5	-	4	598	c.40C>A	c.(40-42)Cta>Ata	p.L14I	TMEM155_ENST00000394394.1_Missense_Mutation_p.L14I|TMEM155_ENST00000394396.1_Missense_Mutation_p.L14I|AC079341.1_ENST00000424958.1_5'Flank	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	14						extracellular region (GO:0005576)		p.L14I(1)		breast(1)|lung(5)	6						TTGGAAATTAGTGCAACAGCC	0.328																																						uc003idx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)CTA>ATA		transmembrane protein 155 precursor							87.0	83.0	84.0					4																	122682999		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682999G>T	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.40C>A	4.37:g.122682999G>T	ENSP00000336987:p.Leu14Ile					TMEM155_uc003idy.1_Missense_Mutation_p.L14I	p.L14I	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN			4	599	-			14					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.40C>A	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115308	0.20795	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.58506	0.48;0.48;0.48;0.33	5.36	-4.41	0.03590	.	142.448000	0.00166	N	0.000018	T	0.40956	0.1138	N	0.24115	0.695	0.09310	N	1	B	0.20261	0.043	B	0.23419	0.046	T	0.25710	-1.0124	10	0.87932	D	0	0.4853	2.9375	0.05819	0.333:0.1868:0.3858:0.0944	.	14	Q4W5P6	TM155_HUMAN	I	14	ENSP00000377919:L14I;ENSP00000336987:L14I;ENSP00000377917:L14I;ENSP00000422869:L14I	ENSP00000336987:L14I	L	-	1	2	TMEM155	122902449	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.742000	0.26216	-1.308000	0.02318	-2.034000	0.00421	CTA		PASS	0.328	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		13	37	13	37	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123239396	123239396	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123239396C>T	ENST00000264501.4	+	63	11138	c.10765C>T	c.(10765-10767)Cgt>Tgt	p.R3589C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3589C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3589C			Q2LD37	K1109_HUMAN	KIAA1109	3589					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R3589C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAGATGTTCGTAAAAAATT	0.393																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10765-10767)CGT>TGT		fragile site-associated protein							147.0	143.0	144.0					4																	123239396		1860	4100	5960	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123239396C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10765C>T	4.37:g.123239396C>T	ENSP00000264501:p.Arg3589Cys					KIAA1109_uc003iel.1_Missense_Mutation_p.R1524C	p.R3589C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			61	10810	+			3589					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10765C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.217018|4.217018	0.79352|0.79352	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000419325	T;T;T;T|.	0.35973|.	2.4;2.4;1.81;1.28|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.67487|0.67487	0.2898|0.2898	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.988;0.99|.	T|T	0.64914|0.64914	-0.6295|-0.6295	10|5	0.66056|.	D|.	0.02|.	.|.	16.6732|16.6732	0.85271|0.85271	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3589;3589|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	C|L	3589;3589;3589;272|1546	ENSP00000264501:R3589C;ENSP00000373390:R3589C;ENSP00000389925:R3589C;ENSP00000410874:R272C|.	ENSP00000264501:R3589C|.	R|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123458846|123458846	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.872000|3.872000	0.56085|0.56085	2.372000|2.372000	0.80975|0.80975	0.650000|0.650000	0.86243|0.86243	CGT|TCG		PASS	0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		15	44	15	44	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123245614	123245614	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123245614T>C	ENST00000264501.4	+	64	11200	c.10827T>C	c.(10825-10827)agT>agC	p.S3609S	KIAA1109_ENST00000388738.3_Silent_p.S3609S|KIAA1109_ENST00000455637.1_Silent_p.S3609S			Q2LD37	K1109_HUMAN	KIAA1109	3609					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S3609S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGGGTTTGAGTTACAAACCAA	0.378																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10825-10827)AGT>AGC		fragile site-associated protein							86.0	80.0	82.0					4																	123245614		1833	4089	5922	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123245614T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10827T>C	4.37:g.123245614T>C						KIAA1109_uc003iel.1_Silent_p.S1544S|KIAA1109_uc003iem.2_5'UTR	p.S3609S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			62	10872	+			3609					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.10827T>C	CCDS43267.1																																																																																				PASS	0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		11	29	11	29	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123260373	123260373	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123260373C>T	ENST00000264501.4	+	72	12535	c.12162C>T	c.(12160-12162)atC>atT	p.I4054I	KIAA1109_ENST00000388738.3_Silent_p.I4054I			Q2LD37	K1109_HUMAN	KIAA1109	4054					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I4054I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCTCACAGATCAAATTTAGCT	0.338																																						uc003ieh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12160-12162)ATC>ATT		fragile site-associated protein							129.0	113.0	118.0					4																	123260373		1815	4085	5900	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123260373C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12162C>T	4.37:g.123260373C>T						KIAA1109_uc003iem.2_Silent_p.I410I|KIAA1109_uc003ien.2_5'UTR	p.I4054I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			70	12207	+			4054					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12162C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	8.564	0.878559	0.17395	.	.	ENSG00000138688	ENST00000306802	.	.	.	5.81	4.97	0.65823	.	.	.	.	.	T	0.64907	0.2641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61481	-0.7054	4	.	.	.	.	12.4046	0.55432	0.1224:0.8129:0.0:0.0647	.	.	.	.	L	430	.	.	S	+	2	0	KIAA1109	123479823	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.639000	0.46570	0.809000	0.34255	-0.808000	0.03180	TCA		PASS	0.338	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		23	32	23	32	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123350819	123350819	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123350819G>A	ENST00000296513.2	+	13	1841	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	ADAD1_ENST00000388724.2_Silent_p.L541L|ADAD1_ENST00000388725.2_Silent_p.L534L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	552	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.L552L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATGTAAGTTGAAATCCTACT	0.348																																						uc003ieo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1654-1656)TTG>TTA		adenosine deaminase domain containing 1							111.0	106.0	107.0					4																	123350819		2203	4300	6503	SO:0001819	synonymous_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123350819G>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1656G>A	4.37:g.123350819G>A						ADAD1_uc003iep.2_Silent_p.L541L|ADAD1_uc003ieq.2_Silent_p.L534L	p.L552L	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			13	1888	+			552			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	ENST00000296513.2	37	c.1656G>A	CCDS34058.1																																																																																				PASS	0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		31	57	31	57	---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123838769	123838769	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123838769G>A	ENST00000304430.5	-	2	362	c.329C>T	c.(328-330)tCc>tTc	p.S110F	NUDT6_ENST00000339154.2_5'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	110						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.S110F(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GAAGCCCAGGGAAGCAGCAGG	0.507																																						uc003iew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)TCC>TTC		nudix-type motif 6 isoform a							128.0	129.0	129.0					4																	123838769		2010	4184	6194	SO:0001583	missense	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123838769G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.329C>T	4.37:g.123838769G>A	ENSP00000306070:p.Ser110Phe					NUDT6_uc003iex.2_5'UTR	p.S110F	NM_007083	NP_009014	P53370	NUDT6_HUMAN			2	361	-			110					A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	ENST00000304430.5	37	c.329C>T	CCDS43268.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605577	0.28623	.	.	ENSG00000170917	ENST00000304430	T	0.35236	1.32	4.63	4.63	0.57726	NUDIX hydrolase domain-like (1);	0.358263	0.29438	N	0.012153	T	0.46132	0.1377	M	0.74258	2.255	0.21020	N	0.999802	P	0.51240	0.943	P	0.47430	0.547	T	0.49781	-0.8903	10	0.72032	D	0.01	-1.0923	13.2211	0.59887	0.0:0.0:0.8405:0.1595	.	110	P53370	NUDT6_HUMAN	F	110	ENSP00000306070:S110F	ENSP00000306070:S110F	S	-	2	0	NUDT6	124058219	0.205000	0.23458	0.602000	0.28890	0.027000	0.11550	2.650000	0.46665	2.410000	0.81850	0.561000	0.74099	TCC		PASS	0.507	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		19	39	19	39	---	---	---	---
NUDT6	11162	broad.mit.edu	37	4	123843641	123843641	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:123843641G>A	ENST00000304430.5	-	1	120	c.87C>T	c.(85-87)gcC>gcT	p.A29A	NUDT6_ENST00000339154.2_Intron|SPATA5_ENST00000274008.4_5'Flank	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	29						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.A29A(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GTGCGCCCGAGGCCCAGCGGT	0.711																																						uc003iew.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)GCC>GCT		nudix-type motif 6 isoform a							17.0	21.0	20.0					4																	123843641		1936	4115	6051	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123843641G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.87C>T	4.37:g.123843641G>A						SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron	p.A29A	NM_007083	NP_009014	P53370	NUDT6_HUMAN			1	119	-			29					A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.87C>T	CCDS43268.1																																																																																				PASS	0.711	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		6	6	6	6	---	---	---	---
ANKRD50	57182	broad.mit.edu	37	4	125592852	125592852	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:125592852G>A	ENST00000504087.1	-	4	2617	c.1580C>T	c.(1579-1581)tCc>tTc	p.S527F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S348F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	527								p.S527F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGTCCGAATGGAATCCTCTCT	0.418																																						uc003ifg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1579-1581)TCC>TTC		ankyrin repeat domain 50							120.0	118.0	119.0					4																	125592852		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592852G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1580C>T	4.37:g.125592852G>A	ENSP00000425658:p.Ser527Phe					ANKRD50_uc011cgo.1_Missense_Mutation_p.S348F|ANKRD50_uc010inw.2_Missense_Mutation_p.S527F	p.S527F	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1846	-			527			ANK 2.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1580C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738750	0.69304	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.63744	-0.06;2.42	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	L	0.38531	1.155	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.66200	-0.5983	10	0.33141	T	0.24	.	17.9224	0.88970	0.0:0.0:1.0:0.0	.	527	Q9ULJ7	ANR50_HUMAN	F	527;348	ENSP00000425658:S527F;ENSP00000425355:S348F	ENSP00000425658:S527F	S	-	2	0	ANKRD50	125812302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.060000	0.93907	2.474000	0.83562	0.555000	0.69702	TCC		PASS	0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		26	53	26	53	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126237972	126237972	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:126237972C>T	ENST00000394329.3	+	1	419	c.406C>T	c.(406-408)Ccg>Tcg	p.P136S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	136	Cadherin 2. {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.P136S(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						CCCCGTTTTCCCGGACCCCTC	0.602											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(406-408)CCG>TCG		FAT tumor suppressor homolog 4 precursor							32.0	38.0	36.0					4																	126237972		2037	4205	6242	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126237972C>T	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.406C>T	4.37:g.126237972C>T	ENSP00000377862:p.Pro136Ser		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.P136S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	406	+			136			Cadherin 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.406C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359739	0.61403	.	.	ENSG00000196159	ENST00000394329	T	0.59638	0.25	5.41	5.41	0.78517	Cadherin (2);Cadherin-like (1);	0.000000	0.34314	U	0.004067	T	0.71854	0.3389	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.66874	-0.5813	10	0.27082	T	0.32	.	19.2229	0.93805	0.0:1.0:0.0:0.0	.	136	Q6V0I7	FAT4_HUMAN	S	136	ENSP00000377862:P136S	ENSP00000377862:P136S	P	+	1	0	FAT4	126457422	1.000000	0.71417	0.999000	0.59377	0.522000	0.34438	7.659000	0.83766	2.523000	0.85059	0.655000	0.94253	CCG		PASS	0.602	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		3	19	3	19	---	---	---	---
PLK4	10733	broad.mit.edu	37	4	128812736	128812736	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:128812736C>T	ENST00000270861.5	+	9	2212	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PLK4_ENST00000507249.1_Silent_p.I585I|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Silent_p.I614I|PLK4_ENST00000515069.1_Silent_p.I568I|PLK4_ENST00000514379.1_Silent_p.I605I	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	646					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I646I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTGGCAGATCACTATTTATT	0.333																																					Colon(135;508 1718 19061 31832 42879)	uc003ifo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1936-1938)ATC>ATT		polo-like kinase 4							69.0	77.0	74.0					4																	128812736		2202	4300	6502	SO:0001819	synonymous_variant	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128812736C>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1938C>T	4.37:g.128812736C>T						PLK4_uc011cgs.1_Silent_p.I614I|PLK4_uc011cgt.1_Silent_p.I605I	p.I646I	NM_014264	NP_055079	O00444	PLK4_HUMAN			9	2183	+			646					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.1938C>T	CCDS3735.1																																																																																				PASS	0.333	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			24	26	24	26	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128854224	128854225	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:128854224_128854225GG>AA	ENST00000296468.3	-	9	905_906	c.778_779CC>TT	c.(778-780)CCc>TTc	p.P260F	MFSD8_ENST00000513559.1_Missense_Mutation_p.P215F|MFSD8_ENST00000541133.1_Missense_Mutation_p.P167S|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	260					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.P260L(1)|p.P260F(1)|p.P260S(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ATTTCCTTGGGGAACCTGAGCT	0.327																																						uc003ifp.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|liver(1)	2						c.(778-780)CCC>CTC|c.(778-780)CCC>TCC		major facilitator superfamily domain containing																																				SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128854224G>A|g.chr4:128854225G>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.778_779delinsAA	4.37:g.128854224_128854225delinsAA	ENSP00000296468:p.Pro260Phe					MFSD8_uc011cgu.1_Missense_Mutation_p.P215L|MFSD8_uc011cgv.1_Missense_Mutation_p.P222L|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.P167S|MFSD8_uc011cgu.1_Missense_Mutation_p.P215S|MFSD8_uc011cgv.1_Missense_Mutation_p.P222S|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Silent_p.F166F	p.P260L|p.P260S	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			9	942|941	-			260			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.779C>T|c.778C>T	CCDS3736.1																																																																																				PASS	0.327	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		19	79	19	79	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138442614	138442614	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:138442614C>T	ENST00000344876.4	-	4	3363	c.2977G>A	c.(2977-2979)Gat>Aat	p.D993N	PCDH18_ENST00000412923.2_Missense_Mutation_p.D992N|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173N|PCDH18_ENST00000510305.1_Missense_Mutation_p.D204N|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D993N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGTCCTCATCGTTTGGGGAG	0.512																																						uc003ihe.3																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(2977-2979)GAT>AAT		protocadherin 18 precursor							86.0	76.0	80.0					4																	138442614		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442614C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2977G>A	4.37:g.138442614C>T	ENSP00000355082:p.Asp993Asn					PCDH18_uc003ihf.3_Missense_Mutation_p.D985N|PCDH18_uc011cgz.1_Missense_Mutation_p.D204N|PCDH18_uc003ihg.3_Missense_Mutation_p.D772N|PCDH18_uc011cha.1_Missense_Mutation_p.D173N	p.D993N	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3364	-	all_hematologic(180;0.24)		993			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2977G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056098	0.19907	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.54866	0.64;0.64;0.55;1.48;1.47	4.97	3.24	0.37175	.	0.497313	0.16345	N	0.218472	T	0.39682	0.1087	L	0.40543	1.245	0.40073	D	0.976049	P;B;B;B	0.40931	0.733;0.059;0.098;0.059	B;B;B;B	0.33521	0.165;0.005;0.023;0.01	T	0.17592	-1.0364	10	0.42905	T	0.14	.	10.9248	0.47185	0.0:0.8481:0.0:0.1519	.	173;772;992;993	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	N	993;992;772;204;173	ENSP00000355082:D993N;ENSP00000390688:D992N;ENSP00000425903:D772N;ENSP00000424269:D204N;ENSP00000425647:D173N	ENSP00000355082:D993N	D	-	1	0	PCDH18	138662064	0.995000	0.38212	0.004000	0.12327	0.160000	0.22226	3.555000	0.53727	0.514000	0.28300	0.655000	0.94253	GAT		PASS	0.512	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	43	17	43	---	---	---	---
MGARP	84709	broad.mit.edu	37	4	140187956	140187956	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:140187956C>T	ENST00000398955.1	-	4	699	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	174					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)		p.E174K(1)									GGGGTTGTTTCAGGGTTTACT	0.512																																						uc003ihr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(520-522)GAA>AAA		ovary-specific acidic protein							261.0	250.0	254.0					4																	140187956		1999	4159	6158	SO:0001583	missense	84709					integral to membrane		g.chr4:140187956C>T	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.520G>A	4.37:g.140187956C>T	ENSP00000381928:p.Glu174Lys						p.E174K	NM_032623	NP_116012	Q8TDB4	CD049_HUMAN			4	700	-			174					Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	c.520G>A	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881895	0.72294	.	.	ENSG00000137463	ENST00000398955	T	0.47177	0.85	5.43	4.58	0.56647	.	0.207421	0.38720	N	0.001584	T	0.43277	0.1240	L	0.32530	0.975	0.09310	N	1	P	0.40180	0.705	B	0.44044	0.439	T	0.40001	-0.9586	10	0.87932	D	0	-23.9077	12.2539	0.54613	0.0:0.8291:0.1709:0.0	.	174	Q8TDB4	CD049_HUMAN	K	174	ENSP00000381928:E174K	ENSP00000381928:E174K	E	-	1	0	C4orf49	140407406	0.001000	0.12720	0.042000	0.18584	0.036000	0.12997	1.120000	0.31271	1.269000	0.44280	0.467000	0.42956	GAA		PASS	0.512	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		35	40	35	40	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145629326	145629326	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:145629326C>T	ENST00000296575.3	+	7	1819	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	388	Interaction with SHH zinc binding site.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.F388F(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TCAGTGATTTCACAGGCTCAG	0.423																																						uc003ijs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1162-1164)TTC>TTT		hedgehog-interacting protein precursor							97.0	86.0	90.0					4																	145629326		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145629326C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1164C>T	4.37:g.145629326C>T							p.F388F	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	7	1819	+	all_hematologic(180;0.151)		388			Interaction with SHH zinc binding site.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.1164C>T	CCDS3762.1																																																																																				PASS	0.423	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			20	43	20	43	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146823941	146823941	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:146823941G>A	ENST00000508784.1	-	2	697	c.470C>T	c.(469-471)tCc>tTc	p.S157F	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S157F			Q17R98	ZN827_HUMAN	zinc finger protein 827	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S157F(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGAAGGCGGGGAAAAGGAGAG	0.567																																						uc003ikn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(469-471)TCC>TTC		zinc finger protein 827							77.0	65.0	69.0					4																	146823941		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823941G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.470C>T	4.37:g.146823941G>A	ENSP00000421863:p.Ser157Phe					ZNF827_uc003ikm.2_Missense_Mutation_p.S157F|ZNF827_uc010iox.2_Intron	p.S157F	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	518	-	all_hematologic(180;0.151)		157					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.470C>T		.	.	.	.	.	.	.	.	.	.	G	19.92	3.916771	0.73098	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.16324	2.35;2.39	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.04386	-1.0955	10	0.87932	D	0	-16.8353	20.1278	0.97990	0.0:0.0:1.0:0.0	.	157;157	Q17R98;Q17R98-2	ZN827_HUMAN;.	F	157;157;156	ENSP00000421863:S157F;ENSP00000368761:S157F	ENSP00000281318:S156F	S	-	2	0	ZNF827	147043391	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.383000	0.97214	2.768000	0.95171	0.561000	0.74099	TCC		PASS	0.567	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		20	32	20	32	---	---	---	---
EDNRA	1909	broad.mit.edu	37	4	148441068	148441068	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:148441068C>T	ENST00000324300.5	+	3	1001	c.486C>T	c.(484-486)ccC>ccT	p.P162P	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000339690.5_Intron|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	162					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.P162P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGCTGTTCCCCTTTTTGCAGA	0.502																																						uc003iky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(484-486)CCC>CCT		endothelin receptor type A isoform a precursor	Bosentan(DB00559)						216.0	201.0	206.0					4																	148441068		2203	4300	6503	SO:0001819	synonymous_variant	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148441068C>T	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.486C>T	4.37:g.148441068C>T						EDNRA_uc011cid.1_5'UTR|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Intron	p.P162P	NM_001957	NP_001948	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	3	1178	+	all_hematologic(180;0.151)		162			Helical; Name=3; (Potential).		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	ENST00000324300.5	37	c.486C>T	CCDS3769.1																																																																																				PASS	0.502	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			49	76	49	76	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152069115	152069115	+	Missense_Mutation	SNP	G	G	A	rs377710335		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:152069115G>A	ENST00000409252.2	-	10	1908	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	SH3D19_ENST00000424281.1_Missense_Mutation_p.P365S|SH3D19_ENST00000409598.4_Missense_Mutation_p.P401S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P401S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P401S|SH3D19_ENST00000427414.2_Missense_Mutation_p.P365S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P401S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	401					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.P398S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTGGGACGAGGGGGTAGCACC	0.398																																						uc010ipl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1201-1203)CCT>TCT		SH3 domain containing 19 isoform a		G	SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	84.0	91.0	89.0		1201,1201,1093	5.1	1.0	4		89	0,8600		0,0,4300	no	missense,missense,missense	SH3D19	NM_001009555.3,NM_001128923.1,NM_001128924.1	74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	401/791,401/768,365/732	152069115	1,13005	2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152069115G>A	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1201C>T	4.37:g.152069115G>A	ENSP00000386848:p.Pro401Ser					SH3D19_uc003imb.2_Missense_Mutation_p.P179S|SH3D19_uc003imc.2_Missense_Mutation_p.P365S|SH3D19_uc003ime.2_Missense_Mutation_p.P401S|SH3D19_uc010ipm.2_Missense_Mutation_p.P401S	p.P401S	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			11	2291	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	401					B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1201C>T	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260320	0.80246	2.27E-4	0.0	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	D;T;D;D;D;T;D	0.89196	-2.48;2.61;-2.48;-2.17;-2.17;2.61;-2.48	5.12	5.12	0.69794	Src homology-3 domain (1);	0.549005	0.15405	N	0.264073	D	0.92974	0.7764	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.65815	0.92;0.995;0.995;0.991	P;P;P;P	0.62014	0.694;0.897;0.864;0.804	D	0.92823	0.6274	10	0.56958	D	0.05	-7.9864	18.5666	0.91119	0.0:0.0:1.0:0.0	.	401;401;365;179	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	S	401;401;401;365;365;401;401	ENSP00000387030:P401S;ENSP00000302913:P401S;ENSP00000416708:P401S;ENSP00000404542:P365S;ENSP00000415694:P365S;ENSP00000386848:P401S;ENSP00000423449:P401S	ENSP00000302913:P401S	P	-	1	0	SH3D19	152288565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.732000	0.74790	2.389000	0.81357	0.591000	0.81541	CCT		PASS	0.398	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		23	47	23	47	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153271243	153271243	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:153271243G>A	ENST00000281708.4	-	3	1764	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R179C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R99C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R179C|FBXW7_ENST00000393956.3_5'Flank|FBXW7_ENST00000296555.5_Missense_Mutation_p.R61C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	179					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R179C(2)|p.R61C(1)|p.R99C(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAAAAAGAGCGGACCTCAGAA	0.308			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		4	Substitution - Missense(4)		lung(4)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(535-537)CGC>TGC		F-box and WD repeat domain containing 7 isoform							28.0	29.0	29.0					4																	153271243		2194	4284	6478	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153271243G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.535C>T	4.37:g.153271243G>A	ENSP00000281708:p.Arg179Cys					FBXW7_uc011cii.1_Missense_Mutation_p.R179C|FBXW7_uc003imt.2_Missense_Mutation_p.R179C|FBXW7_uc011cih.1_5'Flank|FBXW7_uc003imq.2_Missense_Mutation_p.R99C|FBXW7_uc003imr.2_Missense_Mutation_p.R61C	p.R179C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			3	684	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	179					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.535C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631187	0.87660	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	T;T;T	0.58940	0.48;0.35;0.3	6.17	5.33	0.75918	.	0.114219	0.64402	D	0.000008	T	0.54191	0.1843	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.998	P;P;P	0.51806	0.68;0.55;0.649	T	0.60068	-0.7335	10	0.59425	D	0.04	-12.0329	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	179;61;99	Q969H0;Q969H0-4;Q969H0-2	FBXW7_HUMAN;.;.	C	179;61;99	ENSP00000281708:R179C;ENSP00000296555:R61C;ENSP00000263981:R99C	ENSP00000263981:R99C	R	-	1	0	FBXW7	153490693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	1.621000	0.50320	0.655000	0.94253	CGC		PASS	0.308	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			4	8	4	8	---	---	---	---
TIGD4	201798	broad.mit.edu	37	4	153692076	153692076	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:153692076G>A	ENST00000304337.2	-	2	901	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	27	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I27I(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTATGATGTCGATCTTTTCCT	0.383																																						uc003imy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(79-81)ATC>ATT		tigger transposable element derived 4							133.0	129.0	130.0					4																	153692076		2203	4300	6503	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153692076G>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.81C>T	4.37:g.153692076G>A							p.I27I	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	863	-	all_hematologic(180;0.093)		27			HTH psq-type.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.81C>T	CCDS34079.1																																																																																				PASS	0.383	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		25	41	25	41	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153864526	153864526	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:153864526C>T	ENST00000511601.1	+	2	505	c.317C>T	c.(316-318)cCg>cTg	p.P106L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P106L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	106	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.P106L(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAACTATTCCGGAGGAGCAA	0.502																																						uc003inf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(316-318)CCG>CTG		FH2 domain containing 1							113.0	128.0	123.0					4																	153864526		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864526C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.317C>T	4.37:g.153864526C>T	ENSP00000427567:p.Pro106Leu						p.P106L	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			1	392	+	all_hematologic(180;0.093)		106			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.317C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680801	0.88542	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.17854	2.25;2.25	5.32	5.32	0.75619	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64037	-0.6501	10	0.87932	D	0	.	19.371	0.94484	0.0:1.0:0.0:0.0	.	106	Q9C0D6	FHDC1_HUMAN	L	106	ENSP00000427567:P106L;ENSP00000260008:P106L	ENSP00000260008:P106L	P	+	2	0	FHDC1	154083976	1.000000	0.71417	0.969000	0.41365	0.944000	0.59088	6.907000	0.75724	2.656000	0.90262	0.563000	0.77884	CCG		PASS	0.502	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		61	170	61	170	---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154237038	154237038	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:154237038C>T	ENST00000437508.2	+	8	1789	c.1588C>T	c.(1588-1590)Ccg>Tcg	p.P530S	TRIM2_ENST00000338700.5_Missense_Mutation_p.P557S	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	530					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P557S(1)|p.P530S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GGGACGCTCTCCGGGGCAGCT	0.463																																						uc003ing.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1588-1590)CCG>TCG		tripartite motif-containing 2 isoform 2							73.0	82.0	79.0					4																	154237038		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154237038C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1588C>T	4.37:g.154237038C>T	ENSP00000415812:p.Pro530Ser					TRIM2_uc003inh.2_Missense_Mutation_p.P557S	p.P530S	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	8	1789	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	530			NHL 2.		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1588C>T	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335468	0.60853	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.71461	-0.53;-0.57	5.07	5.07	0.68467	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.80089	-0.1528	10	0.42905	T	0.14	-10.5959	18.8059	0.92037	0.0:1.0:0.0:0.0	.	557;530	D3DP09;Q9C040	.;TRIM2_HUMAN	S	530;557	ENSP00000415812:P530S;ENSP00000339659:P557S	ENSP00000339659:P557S	P	+	1	0	TRIM2	154456488	1.000000	0.71417	0.913000	0.36048	0.977000	0.68977	7.776000	0.85560	2.506000	0.84524	0.650000	0.86243	CCG		PASS	0.463	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			9	61	9	61	---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625881	154625881	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:154625881C>T	ENST00000260010.6	+	1	3230	c.1822C>T	c.(1822-1824)Ctg>Ttg	p.L608L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	608					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.L608L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CACGGGGGTCCTGTGCCACCG	0.572																																						uc003inq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1822-1824)CTG>TTG		toll-like receptor 2 precursor							71.0	55.0	60.0					4																	154625881		2203	4300	6503	SO:0001819	synonymous_variant	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625881C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1822C>T	4.37:g.154625881C>T						TLR2_uc003inr.2_Silent_p.L608L|TLR2_uc003ins.2_Silent_p.L608L	p.L608L	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	2041	+	all_hematologic(180;0.093)	Renal(120;0.117)	608			Helical; (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	ENST00000260010.6	37	c.1822C>T	CCDS3784.1																																																																																				PASS	0.572	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			17	15	17	15	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155156464	155156464	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155156464G>A	ENST00000357232.4	-	25	7974	c.7975C>T	c.(7975-7977)Ccc>Tcc	p.P2659S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2659					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2659S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCTGTAGGGATGCTCATTT	0.512																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(7975-7977)CCC>TCC		dachsous 2 isoform 1							104.0	97.0	100.0					4																	155156464		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156464G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7975C>T	4.37:g.155156464G>A	ENSP00000349768:p.Pro2659Ser						p.P2659S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7975	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2659					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7975C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120415	0.77323	.	.	ENSG00000197410	ENST00000357232	T	0.59638	0.25	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.78162	0.4240	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79654	-0.1713	10	0.62326	D	0.03	.	19.4946	0.95067	0.0:0.0:1.0:0.0	.	2659	Q6V1P9	PCD23_HUMAN	S	2659	ENSP00000349768:P2659S	ENSP00000349768:P2659S	P	-	1	0	DCHS2	155375914	1.000000	0.71417	0.984000	0.44739	0.733000	0.41908	5.785000	0.68998	2.599000	0.87857	0.460000	0.39030	CCC		PASS	0.512	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		24	40	24	40	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155243554	155243554	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155243554A>T	ENST00000357232.4	-	13	2739	c.2740T>A	c.(2740-2742)Tac>Aac	p.Y914N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	914	Cadherin 7. {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.Y914N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCATTCTGTAGGAAGGTCTA	0.398																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2740-2742)TAC>AAC		dachsous 2 isoform 1							181.0	156.0	165.0					4																	155243554		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155243554A>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2740T>A	4.37:g.155243554A>T	ENSP00000349768:p.Tyr914Asn						p.Y914N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	13	2740	-	all_hematologic(180;0.208)	Renal(120;0.0854)	914			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2740T>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290248	0.59976	.	.	ENSG00000197410	ENST00000357232	T	0.70164	-0.46	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000012	D	0.85957	0.5818	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89371	0.3675	10	0.87932	D	0	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	914	Q6V1P9	PCD23_HUMAN	N	914	ENSP00000349768:Y914N	ENSP00000349768:Y914N	Y	-	1	0	DCHS2	155463004	1.000000	0.71417	0.531000	0.27976	0.027000	0.11550	8.178000	0.89690	2.302000	0.77476	0.533000	0.62120	TAC		PASS	0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	40	12	40	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155278421	155278421	+	Silent	SNP	C	C	T	rs149265546	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155278421C>T	ENST00000357232.4	-	6	749	c.750G>A	c.(748-750)aaG>aaA	p.K250K	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	250	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K250K(1)|p.K250N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcattacttccttgtctgctg	0.438													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19757	0.0		0.0	False		,,,				2504	0.0					uc003inw.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(3)|pancreas(1)	4						c.(748-750)AAG>AAA		dachsous 2 isoform 1		C	,	9,4397	15.5+/-35.6	0,9,2194	135.0	140.0	139.0		,750	-0.4	0.0	4	dbSNP_134	139	0,8600		0,0,4300	no	intron,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	,	,250/2917	155278421	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278421C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.750G>A	4.37:g.155278421C>T						DCHS2_uc003inx.2_Intron	p.K250K	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	750	-	all_hematologic(180;0.208)	Renal(120;0.0854)	250			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.750G>A	CCDS3785.1																																																																																				PASS	0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		32	97	32	97	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155460272	155460272	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155460272A>G	ENST00000499023.2	-	12	1262	c.1136T>C	c.(1135-1137)gTt>gCt	p.V379A	PLRG1_ENST00000302078.5_Missense_Mutation_p.V370A|PLRG1_ENST00000393905.2_Missense_Mutation_p.V379A	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	379					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.V379A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGGATGTAAAACCACAGCCCT	0.358																																						uc003iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)GTT>GCT		pleiotropic regulator 1 (PRL1 homolog,							227.0	209.0	215.0					4																	155460272		2202	4300	6502	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155460272A>G	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1136T>C	4.37:g.155460272A>G	ENSP00000424417:p.Val379Ala					PLRG1_uc003inz.2_Missense_Mutation_p.V370A	p.V379A	NM_002669	NP_002660	O43660	PLRG1_HUMAN			12	1199	-	all_hematologic(180;0.215)	Renal(120;0.0854)	379			WD 5.		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1136T>C	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	5.947	0.358752	0.11239	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000503251;ENST00000302078	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108521	0.64402	D	0.000008	T	0.24699	0.0599	N	0.01640	-0.785	0.53688	D	0.999979	B;B	0.06786	0.001;0.0	B;B	0.11329	0.002;0.006	T	0.33471	-0.9867	10	0.02654	T	1	-27.6425	16.6406	0.85098	1.0:0.0:0.0:0.0	.	370;379	O43660-2;O43660	.;PLRG1_HUMAN	A	379;379;22;370	ENSP00000424417:V379A;ENSP00000377483:V379A;ENSP00000426497:V22A;ENSP00000303191:V370A	ENSP00000303191:V370A	V	-	2	0	PLRG1	155679722	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.939000	0.75911	2.326000	0.78906	0.533000	0.62120	GTT		PASS	0.358	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		24	46	24	46	---	---	---	---
FGB	2244	broad.mit.edu	37	4	155489637	155489637	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155489637G>A	ENST00000302068.4	+	5	886	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.E56K	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	275	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.E275K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CATGAATACAGAAAATGGAGG	0.403																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(823-825)GAA>AAA		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						124.0	119.0	121.0					4																	155489637		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155489637G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.823G>A	4.37:g.155489637G>A	ENSP00000306099:p.Glu275Lys					FGB_uc003iob.3_Missense_Mutation_p.E272K|FGB_uc010ipv.2_Missense_Mutation_p.E213K|FGB_uc010ipw.2_Missense_Mutation_p.E272K|FGB_uc003ioc.3_Missense_Mutation_p.E56K	p.E275K	NM_005141	NP_005132	P02675	FIBB_HUMAN			5	862	+	all_hematologic(180;0.215)	Renal(120;0.0458)	275			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.823G>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	7.633	0.679204	0.14907	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.77489	-1.1;2.67	5.62	5.62	0.85841	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.493814	0.25881	N	0.027689	T	0.68109	0.2965	N	0.16368	0.405	0.41341	D	0.9873	P;B	0.47604	0.898;0.105	P;B	0.46629	0.522;0.131	T	0.65772	-0.6087	10	0.19147	T	0.46	.	15.1737	0.72894	0.0:0.1406:0.8594:0.0	.	258;275	B4E1D3;P02675	.;FIBB_HUMAN	K	275;258;56	ENSP00000306099:E275K;ENSP00000426757:E56K	ENSP00000306099:E275K	E	+	1	0	FGB	155709087	1.000000	0.71417	0.962000	0.40283	0.154000	0.21943	2.352000	0.44080	2.640000	0.89533	0.491000	0.48974	GAA		PASS	0.403	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		14	24	14	24	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155506702	155506702	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:155506702G>A	ENST00000302053.3	-	5	1957	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	FGA_ENST00000403106.3_Missense_Mutation_p.R627C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	627	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.R627C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ctgaCAGGGCGAGATTTAGCA	0.493																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1879-1881)CGC>TGC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						126.0	114.0	118.0					4																	155506702		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506702G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1879C>T	4.37:g.155506702G>A	ENSP00000306361:p.Arg627Cys					FGA_uc003ioe.1_Missense_Mutation_p.R627C|FGA_uc003iof.1_3'UTR	p.R627C	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1937	-	all_hematologic(180;0.215)	Renal(120;0.0458)	627			By similarity.|Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1879C>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393333	0.25118	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;T	0.97232	-4.3;2.58	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.518660	0.03174	N	0.171103	D	0.98150	0.9389	L	0.61218	1.895	0.21184	N	0.999769	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.90031	0.4135	10	0.39692	T	0.17	.	10.1808	0.42965	0.0877:0.0:0.9123:0.0	.	627;627	P02671-2;P02671	.;FIBA_HUMAN	C	627	ENSP00000306361:R627C;ENSP00000385981:R627C	ENSP00000306361:R627C	R	-	1	0	FGA	155726152	0.702000	0.27816	0.227000	0.23927	0.015000	0.08874	3.209000	0.51122	2.865000	0.98341	0.609000	0.83330	CGC		PASS	0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		19	46	19	46	---	---	---	---
TDO2	6999	broad.mit.edu	37	4	156824933	156824933	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:156824933G>A	ENST00000536354.2	+	1	87	c.23G>A	c.(22-24)gGa>gAa	p.G8E		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.G8E(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CCATTTTTAGGAAACAACTTT	0.408																																					Colon(57;928 1036 2595 6946 26094)	uc003ipf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GGA>GAA		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						181.0	173.0	175.0					4																	156824933		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156824933G>A		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.23G>A	4.37:g.156824933G>A	ENSP00000444788:p.Gly8Glu						p.G8E	NM_005651	NP_005642	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	1	87	+	all_hematologic(180;0.24)	Renal(120;0.0854)	8						Missense_Mutation	SNP	ENST00000536354.2	37	c.23G>A	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676284	0.29783	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.2	4.32	0.51571	.	0.275503	0.41294	D	0.000909	T	0.42743	0.1216	L	0.60455	1.87	0.26559	N	0.973773	B	0.06786	0.001	B	0.06405	0.002	T	0.38929	-0.9638	9	0.54805	T	0.06	-12.639	10.2283	0.43238	0.0746:0.1369:0.7885:0.0	.	8	P48775	T23O_HUMAN	E	8	.	ENSP00000281525:G8E	G	+	2	0	TDO2	157044383	1.000000	0.71417	0.024000	0.17045	0.910000	0.53928	2.133000	0.42093	2.441000	0.82636	0.655000	0.94253	GGA		PASS	0.408	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		20	33	20	33	---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156849538	156849538	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:156849538G>A	ENST00000433477.3	-	7	950	c.881C>T	c.(880-882)tCt>tTt	p.S294F		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	301					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.S294F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TACTCCCCAAGAACTTCCCCA	0.348																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)TCT>TTT		cathepsin O preproprotein							107.0	100.0	102.0					4																	156849538		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156849538G>A	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.881C>T	4.37:g.156849538G>A	ENSP00000414904:p.Ser294Phe						p.S294F	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	7	930	-	all_hematologic(180;0.24)	Renal(120;0.0458)	294					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.881C>T	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887015	0.72410	.	.	ENSG00000256043	ENST00000433477	T	0.33216	1.42	5.32	5.32	0.75619	Peptidase C1A, papain C-terminal (2);	0.216400	0.41396	D	0.000890	T	0.53578	0.1805	M	0.70903	2.155	0.33411	D	0.578628	P	0.50819	0.939	P	0.59221	0.854	T	0.65841	-0.6070	10	0.66056	D	0.02	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	294	P43234	CATO_HUMAN	F	294	ENSP00000414904:S294F	ENSP00000281527:S294F	S	-	2	0	CTSO	157068988	0.994000	0.37717	0.078000	0.20375	0.777000	0.43975	7.126000	0.77201	2.507000	0.84556	0.650000	0.86243	TCT		PASS	0.348	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		24	31	24	31	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158224874	158224874	+	Missense_Mutation	SNP	G	G	A	rs201867927		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:158224874G>A	ENST00000264426.9	+	3	679	c.400G>A	c.(400-402)Gga>Aga	p.G134R	GRIA2_ENST00000393815.2_Missense_Mutation_p.G87R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G87R|GRIA2_ENST00000507898.1_Missense_Mutation_p.G87R|GRIA2_ENST00000296526.7_Missense_Mutation_p.G134R	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	134					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G134R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGACCTCAAAGGAGCTCTCCT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18837	0.001		0.0	False		,,,				2504	0.0					uc003ipm.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(400-402)GGA>AGA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						174.0	157.0	163.0					4																	158224874		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224874G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.400G>A	4.37:g.158224874G>A	ENSP00000264426:p.Gly134Arg					GRIA2_uc011cit.1_Missense_Mutation_p.G87R|GRIA2_uc003ipl.3_Missense_Mutation_p.G134R|GRIA2_uc003ipk.3_Missense_Mutation_p.G87R|GRIA2_uc010iqh.1_RNA	p.G134R	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	859	+	all_hematologic(180;0.24)	Renal(120;0.0458)	134			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.400G>A	CCDS43274.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	26.7	4.758466	0.89843	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365;ENST00000503437	D;D;D;D;D;D;T	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;2.08	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	L	0.48362	1.52	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.97110	0.996;0.726;1.0	D	0.85076	0.0943	9	.	.	.	.	20.0536	0.97638	0.0:0.0:1.0:0.0	.	134;134;87	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	R	87;87;134;134;87;87;7	ENSP00000426845:G87R;ENSP00000377403:G87R;ENSP00000296526:G134R;ENSP00000264426:G134R;ENSP00000422038:G87R;ENSP00000389837:G87R;ENSP00000426784:G7R	.	G	+	1	0	GRIA2	158444324	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.019000	0.88732	2.737000	0.93849	0.650000	0.86243	GGA		PASS	0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			34	105	34	105	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158281079	158281079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:158281079G>A	ENST00000264426.9	+	13	2354	c.2075G>A	c.(2074-2076)tGg>tAg	p.W692*	AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W645*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W645*|GRIA2_ENST00000296526.7_Nonsense_Mutation_p.W692*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	692					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.W692*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATAAAATGTGGACCTACATG	0.458																																						uc003ipm.3																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(2074-2076)TGG>TAG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						67.0	67.0	67.0					4																	158281079		2203	4300	6503	SO:0001587	stop_gained	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281079G>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2075G>A	4.37:g.158281079G>A	ENSP00000264426:p.Trp692*					GRIA2_uc011cit.1_Nonsense_Mutation_p.W645*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W692*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W645*|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Nonsense_Mutation_p.W2*|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Nonsense_Mutation_p.W2*|GRIA2_uc011ciy.1_Nonsense_Mutation_p.W2*|GRIA2_uc011ciz.1_RNA	p.W692*	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2534	+	all_hematologic(180;0.24)	Renal(120;0.0458)	692			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Nonsense_Mutation	SNP	ENST00000264426.9	37	c.2075G>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	40	8.364063	0.98779	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8165	0.96571	0.0:0.0:1.0:0.0	.	.	.	.	X	645;645;692;692;645	.	ENSP00000264426:W692X	W	+	2	0	GRIA2	158500529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	TGG		PASS	0.458	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			20	20	20	20	---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159790431	159790431	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:159790431C>T	ENST00000264433.6	+	13	2718	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	FNIP2_ENST00000379346.3_Silent_p.F904F	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	881	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F207F(1)|p.F881F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGCCAACTTCAGGACTGAAG	0.597																																						uc003iqe.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2641-2643)TTC>TTT		folliculin interacting protein 2							30.0	34.0	33.0					4																	159790431		2072	4207	6279	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790431C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2643C>T	4.37:g.159790431C>T							p.F881F	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2826	+	all_hematologic(180;0.24)		881			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.2643C>T	CCDS47155.1																																																																																				PASS	0.597	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		11	14	11	14	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160277247	160277248	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:160277247_160277248CC>TT	ENST00000264431.4	+	23	4830_4831	c.4411_4412CC>TT	c.(4411-4413)CCg>TTg	p.P1471L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1471					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.P1459L(2)|p.P1459S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTGGCATAAACCGAACGAGTCT	0.554																																						uc003iqg.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(4411-4413)CCG>TCG|c.(4411-4413)CCG>CTG		Rap guanine nucleotide exchange factor 2																																				SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277247C>T|g.chr4:160277248C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		Exception_encountered	4.37:g.160277247_160277248delinsTT	ENSP00000264431:p.Pro1471Leu						p.P1471S|p.P1471L	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4721|4722	+	all_hematologic(180;0.24)		1471					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.4411C>T|c.4412C>T	CCDS43277.1																																																																																				PASS	0.554	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		7|6	23|24	6	23	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162697122	162697122	+	Missense_Mutation	SNP	C	C	T	rs199735797		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:162697122C>T	ENST00000306100.5	-	5	950	c.514G>A	c.(514-516)Gac>Aac	p.D172N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D171N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D171N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D171N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	172						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D172N(2)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGAGATATGTCGTCGCCATTA	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		15201	0.0		0.001	False		,,,				2504	0.0					uc003iqh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(514-516)GAC>AAC		follistatin-like 5 isoform a							101.0	101.0	101.0					4																	162697122		2203	4294	6497	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697122C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.514G>A	4.37:g.162697122C>T	ENSP00000305334:p.Asp172Asn					FSTL5_uc003iqi.2_Missense_Mutation_p.D171N|FSTL5_uc010iqv.2_Missense_Mutation_p.D171N	p.D172N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	950	-	all_hematologic(180;0.24)		172					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.514G>A	CCDS3802.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.894	0.166215	0.09339	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.3	4.4	0.53042	.	0.443811	0.27362	N	0.019710	T	0.14917	0.0360	L	0.47716	1.5	0.34415	D	0.696831	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.04013	0.0;0.001;0.0	T	0.14531	-1.0469	10	0.18276	T	0.48	.	4.8665	0.13611	0.0:0.6349:0.1962:0.1689	.	171;171;172	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	N	172;171;171;171	ENSP00000305334:D172N;ENSP00000368462:D171N;ENSP00000389270:D171N;ENSP00000440409:D171N	ENSP00000305334:D172N	D	-	1	0	FSTL5	162916572	1.000000	0.71417	0.908000	0.35775	0.044000	0.14063	3.321000	0.51999	2.625000	0.88918	0.650000	0.86243	GAC		PASS	0.303	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		23	47	23	47	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164272282	164272282	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:164272282G>A	ENST00000515560.1	+	4	2379	c.857G>A	c.(856-858)aGa>aAa	p.R286K	NPY5R_ENST00000338566.3_Missense_Mutation_p.R286K|NPY5R_ENST00000506953.1_Missense_Mutation_p.R286K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	286					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.R286K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAAAACACAGAAGAAGATAT	0.413																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(856-858)AGA>AAA		neuropeptide Y receptor Y5							92.0	93.0	93.0					4																	164272282		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272282G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.857G>A	4.37:g.164272282G>A	ENSP00000423917:p.Arg286Lys						p.R286K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1039	+	all_hematologic(180;0.166)	Prostate(90;0.109)	286			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.857G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046702	0.19748	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.71579	-0.58;-0.58;-0.58	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.280831	0.19732	N	0.107325	T	0.55305	0.1912	N	0.25890	0.77	0.28172	N	0.928511	B	0.14012	0.009	B	0.19666	0.026	T	0.37865	-0.9687	10	0.13853	T	0.58	.	12.1448	0.54018	0.094:0.0:0.906:0.0	.	286	Q15761	NPY5R_HUMAN	K	286	ENSP00000339377:R286K;ENSP00000423917:R286K;ENSP00000423474:R286K	ENSP00000339377:R286K	R	+	2	0	NPY5R	164491732	1.000000	0.71417	0.999000	0.59377	0.616000	0.37450	4.133000	0.57983	2.433000	0.82419	0.467000	0.42956	AGA		PASS	0.413	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		19	74	19	74	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	164506934	164506934	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:164506934G>A	ENST00000503008.1	-	6	1366	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MARCH1_ENST00000514618.1_Silent_p.F386F|MARCH1_ENST00000274056.7_Silent_p.F130F|MARCH1_ENST00000339875.5_Silent_p.F113F	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	130					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F113F(1)|p.F130F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTCCATTATGAAGTCATACT	0.493																																						uc003iqs.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(388-390)TTC>TTT		membrane-associated RING-CH protein I							137.0	123.0	128.0					4																	164506934		2203	4300	6503	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164506934G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.390C>T	4.37:g.164506934G>A						MARCH1_uc003iqr.1_Silent_p.F113F	p.F130F	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			6	1367	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	130			RING-CH-type.		D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.390C>T	CCDS54814.1																																																																																				PASS	0.493	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		17	60	17	60	---	---	---	---
TRIM75P	391714	broad.mit.edu	37	4	165980744	165980744	+	IGR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:165980744C>T								TRIM60 (17848 upstream) : RP11-219C20.3 (11015 downstream)																							CAGTTACATCCAGCCCCTGAA	0.478																																						uc011cjl.1																			0											c.(445-447)CAG>TAG		tripartite motif-containing 75							70.0	69.0	70.0					4																	165980744		1881	4106	5987	SO:0001628	intergenic_variant	0							g.chr4:165980744C>T																													4.37:g.165980744C>T							p.Q149*	NM_001105575	NP_001099045					1	445	+									Nonsense_Mutation	SNP		37	c.445C>T																																																																																				0	PASS	0.478									25	67	25	67	---	---	---	---
NEK1	4750	broad.mit.edu	37	4	170506580	170506580	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:170506580G>A	ENST00000439128.2	-	9	1367	c.727C>T	c.(727-729)Cct>Tct	p.P243S	NEK1_ENST00000510533.1_Missense_Mutation_p.P243S|NEK1_ENST00000512193.1_Missense_Mutation_p.P243S|NEK1_ENST00000507142.1_Missense_Mutation_p.P243S|NEK1_ENST00000511633.1_Missense_Mutation_p.P243S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P243S(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATCCCTAGGATTTCTTTTA	0.373																																						uc003isb.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|large_intestine(1)	6						c.(727-729)CCT>TCT		NIMA-related kinase 1							71.0	69.0	70.0					4																	170506580		1835	4084	5919	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170506580G>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.727C>T	4.37:g.170506580G>A	ENSP00000408020:p.Pro243Ser					NEK1_uc003isc.1_Missense_Mutation_p.P243S|NEK1_uc003isd.1_Missense_Mutation_p.P243S|NEK1_uc003ise.1_Missense_Mutation_p.P243S|NEK1_uc003isf.1_Missense_Mutation_p.P243S|NEK1_uc003isg.1_Missense_Mutation_p.P164S	p.P243S	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	9	1219	-		Prostate(90;0.00601)|Renal(120;0.0183)	243			Protein kinase.		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.727C>T	CCDS47162.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.140197|5.140197	0.94560|0.94560	.|.	.|.	ENSG00000137601|ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193|ENST00000505119	T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.985;0.999;1.0;0.999;1.0;0.999|.	P;D;D;D;D;D|.	0.83275|.	0.891;0.992;0.989;0.994;0.989;0.996|.	T|T	0.77744|0.77744	-0.2473|-0.2473	10|5	0.72032|.	D|.	0.01|.	.|.	19.7683|19.7683	0.96352|0.96352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	243;243;243;243;243;243|.	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6|.	.;.;.;.;.;NEK1_HUMAN|.	S|F	243|24	ENSP00000408020:P243S;ENSP00000423332:P243S;ENSP00000427653:P243S;ENSP00000424757:P243S;ENSP00000424938:P243S|.	ENSP00000408020:P243S|.	P|S	-|-	1|2	0|0	NEK1|NEK1	170743155|170743155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.727000|9.727000	0.98787|0.98787	2.676000|2.676000	0.91093|0.91093	0.591000|0.591000	0.81541|0.81541	CCT|TCC		PASS	0.373	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			16	46	16	46	---	---	---	---
GLRA3	8001	broad.mit.edu	37	4	175749928	175749928	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:175749928G>A	ENST00000274093.3	-	1	537	c.35C>T	c.(34-36)tCg>tTg	p.S12L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S12L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	12					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S12L(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GTAAAATCCCGAAACTAATGT	0.458																																						uc003ity.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(34-36)TCG>TTG		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						123.0	112.0	116.0					4																	175749928		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175749928G>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.35C>T	4.37:g.175749928G>A	ENSP00000274093:p.Ser12Leu					GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank	p.S12L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	1	538	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	12					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.35C>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308243	0.60305	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.68331	-0.21;-0.32	5.23	5.23	0.72850	.	0.203855	0.35040	N	0.003497	T	0.60650	0.2285	N	0.08118	0	0.37851	D	0.929387	P;P	0.47302	0.893;0.829	P;P	0.58820	0.846;0.706	T	0.60372	-0.7276	10	0.18710	T	0.47	.	14.1703	0.65506	0.0:0.0:1.0:0.0	.	12;12	O75311-2;O75311	.;GLRA3_HUMAN	L	12	ENSP00000274093:S12L;ENSP00000345284:S12L	ENSP00000274093:S12L	S	-	2	0	GLRA3	175986503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.670000	0.61583	2.710000	0.92621	0.655000	0.94253	TCG		PASS	0.458	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			18	50	18	50	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175898683	175898683	+	Silent	SNP	G	G	A	rs560731315		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:175898683G>A	ENST00000359240.3	+	5	2677	c.2007G>A	c.(2005-2007)aaG>aaA	p.K669K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.K669K|ADAM29_ENST00000404450.4_Silent_p.K669K|ADAM29_ENST00000514159.1_Silent_p.K669K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	669	Poly-Lys.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K669K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACCCCCTAAGAGAAAGAAGA	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		12463	0.0		0.0	False		,,,				2504	0.0				Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(2005-2007)AAG>AAA		ADAM metallopeptidase domain 29 preproprotein							34.0	37.0	36.0					4																	175898683		2201	4298	6499	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898683G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2007G>A	4.37:g.175898683G>A						ADAM29_uc003iud.2_Silent_p.K669K|ADAM29_uc010irr.2_Silent_p.K669K|ADAM29_uc011cki.1_Silent_p.K669K	p.K669K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2677	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	669			Poly-Lys.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.2007G>A	CCDS3823.1																																																																																				PASS	0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				13	38	13	38	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176561960	176561960	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:176561960C>T	ENST00000280187.7	-	6	607	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	GPM6A_ENST00000393658.2_Missense_Mutation_p.E188K|GPM6A_ENST00000515090.1_Missense_Mutation_p.E181K|GPM6A_ENST00000506894.1_Missense_Mutation_p.E177K|GPM6A_ENST00000506219.1_5'UTR	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	188					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.E188K(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTTTCTTTTCCTCTCCAATT	0.338																																						uc003iuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAA>AAA		glycoprotein M6A isoform 2							95.0	95.0	95.0					4																	176561960		2203	4298	6501	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176561960C>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.562G>A	4.37:g.176561960C>T	ENSP00000280187:p.Glu188Lys					GPM6A_uc011ckj.1_Missense_Mutation_p.E181K|GPM6A_uc003iug.2_Missense_Mutation_p.E188K|GPM6A_uc003iuh.2_Missense_Mutation_p.E177K	p.E188K	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	5	1366	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	188			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.562G>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382589	0.61845	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	5.96	5.12	0.69794	.	0.143150	0.64402	D	0.000009	D	0.97455	0.9167	L	0.36672	1.1	0.49798	D	0.99982	B;B;B	0.14438	0.01;0.003;0.007	B;B;B	0.31390	0.016;0.016;0.129	D	0.95885	0.8902	10	0.42905	T	0.14	-1.057	14.5857	0.68322	0.0:0.93:0.0:0.07	.	181;177;188	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	K	188;188;177;181;180	ENSP00000280187:E188K;ENSP00000377268:E188K;ENSP00000421578:E177K;ENSP00000423984:E181K;ENSP00000422959:E180K	ENSP00000280187:E188K	E	-	1	0	GPM6A	176798954	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.337000	0.59310	1.532000	0.49169	0.637000	0.83480	GAA		PASS	0.338	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			5	14	5	14	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177061074	177061074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:177061074G>A	ENST00000280190.4	+	11	1619	c.1463G>A	c.(1462-1464)tGg>tAg	p.W488*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.W471*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.W464*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.W464*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	488								p.W488*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATTGCCTGGAGTCATAAA	0.308																																						uc003iuj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1462-1464)TGG>TAG		WD repeat domain 17 isoform 1							171.0	191.0	185.0					4																	177061074		2203	4300	6503	SO:0001587	stop_gained	116966							g.chr4:177061074G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1463G>A	4.37:g.177061074G>A	ENSP00000280190:p.Trp488*					WDR17_uc003iuk.2_Nonsense_Mutation_p.W464*|WDR17_uc003ium.3_Nonsense_Mutation_p.W464*|WDR17_uc003iul.1_Intron	p.W488*	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	11	1619	+		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)	488			WD 8.		E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	c.1463G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	38	7.214133	0.98139	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8132	19.6404	0.95755	0.0:0.0:1.0:0.0	.	.	.	.	X	464;464;488;471	.	ENSP00000280190:W488X	W	+	2	0	WDR17	177298068	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.160000	0.94734	2.712000	0.92718	0.591000	0.81541	TGG		PASS	0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			42	72	42	72	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177073061	177073061	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:177073061C>T	ENST00000280190.4	+	18	2631	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	WDR17_ENST00000507824.2_Silent_p.I808I|WDR17_ENST00000393643.2_Silent_p.I801I|WDR17_ENST00000508596.1_Silent_p.I801I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	825								p.I825I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGCTGAAATCCACTTGAGAT	0.378																																						uc003iuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2473-2475)ATC>ATT		WD repeat domain 17 isoform 1							114.0	113.0	114.0					4																	177073061		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177073061C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2475C>T	4.37:g.177073061C>T						WDR17_uc003iuk.2_Silent_p.I801I|WDR17_uc003ium.3_Silent_p.I801I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.I44I	p.I825I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	18	2631	+		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)	825					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.2475C>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	8.964	0.971357	0.18736	.	.	ENSG00000150627	ENST00000443118	.	.	.	5.55	-0.0959	0.13639	.	.	.	.	.	T	0.68595	0.3018	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68500	-0.5392	4	.	.	.	-29.0945	16.0226	0.80509	0.353:0.647:0.0:0.0	.	.	.	.	S	68	.	.	P	+	1	0	WDR17	177310055	1.000000	0.71417	0.977000	0.42913	0.914000	0.54420	1.248000	0.32827	0.064000	0.16427	-0.424000	0.05967	CCA		PASS	0.378	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			24	40	24	40	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177138125	177138125	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:177138125G>A	ENST00000296525.3	-	6	819	c.706C>T	c.(706-708)Cca>Tca	p.P236S	ASB5_ENST00000512254.1_Missense_Mutation_p.P183S	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	236					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.P236S(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)		GCATGTAATGGAGTATCCCAA	0.388																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(706-708)CCA>TCA		ankyrin repeat and SOCS box-containing protein							195.0	187.0	190.0					4																	177138125		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138125G>A	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.706C>T	4.37:g.177138125G>A	ENSP00000296525:p.Pro236Ser					ASB5_uc003iup.1_Missense_Mutation_p.P183S	p.P236S	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)	6	722	-		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)	236			ANK 6.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.706C>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587387	0.86851	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.79845	-0.53;-1.31	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.098860	0.64402	D	0.000001	D	0.90807	0.7113	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.98;0.989	D	0.91580	0.5278	10	0.87932	D	0	-26.513	19.6512	0.95812	0.0:0.0:1.0:0.0	.	236;183	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	S	236;183	ENSP00000296525:P236S;ENSP00000422877:P183S	ENSP00000296525:P236S	P	-	1	0	ASB5	177375119	1.000000	0.71417	0.643000	0.29450	0.791000	0.44710	9.016000	0.93645	2.712000	0.92718	0.591000	0.81541	CCA		PASS	0.388	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			33	85	33	85	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183713580	183713580	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:183713580G>A	ENST00000511685.1	+	26	5878	c.5755G>A	c.(5755-5757)Gaa>Aaa	p.E1919K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1919K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1919					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E1919K(1)									CAACCCCCCGGAAAGCAACGC	0.537																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(5755-5757)GAA>AAA		odz, odd Oz/ten-m homolog 3							70.0	72.0	71.0					4																	183713580		2011	4164	6175	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183713580G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5755G>A	4.37:g.183713580G>A	ENSP00000424226:p.Glu1919Lys						p.E1919K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5792	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1919			Extracellular (Potential).|YD 8.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.5755G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378796	0.82682	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86497	-2.13;-2.13	5.04	5.04	0.67666	.	.	.	.	.	D	0.92280	0.7551	M	0.78223	2.4	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.89137	0.3514	9	0.09590	T	0.72	.	18.568	0.91124	0.0:0.0:1.0:0.0	.	1919	Q9P273	TEN3_HUMAN	K	1919	ENSP00000424226:E1919K;ENSP00000385276:E1919K	ENSP00000385276:E1919K	E	+	1	0	ODZ3	183950574	1.000000	0.71417	0.833000	0.33012	0.974000	0.67602	9.623000	0.98386	2.608000	0.88229	0.591000	0.81541	GAA		PASS	0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			18	70	18	70	---	---	---	---
STOX2	56977	broad.mit.edu	37	4	184932261	184932261	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:184932261C>T	ENST00000308497.4	+	3	3705	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	STOX2_ENST00000438269.1_Missense_Mutation_p.S757F	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	757					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.S757F(1)|p.S781F(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		ATGCCTGCTTCCCAGCGTCAG	0.552																																						uc003ivz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2269-2271)TCC>TTC		storkhead box 2							40.0	44.0	43.0					4																	184932261		2021	4164	6185	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184932261C>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2270C>T	4.37:g.184932261C>T	ENSP00000311257:p.Ser757Phe					STOX2_uc003iwa.1_Missense_Mutation_p.S446F	p.S757F	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3705	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	757					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.2270C>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302479	0.23736	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.79033	-0.24;-1.23	5.65	4.75	0.60458	.	0.123578	0.56097	D	0.000022	T	0.67392	0.2888	N	0.24115	0.695	0.41892	D	0.990373	B;B	0.28324	0.207;0.018	B;B	0.30646	0.118;0.023	T	0.68473	-0.5399	10	0.66056	D	0.02	-7.1589	13.5006	0.61452	0.0:0.9199:0.0:0.0801	.	757;757	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	F	757	ENSP00000311257:S757F;ENSP00000390127:S757F	ENSP00000311257:S757F	S	+	2	0	STOX2	185169255	1.000000	0.71417	0.949000	0.38748	0.380000	0.30137	4.401000	0.59716	1.491000	0.48482	0.655000	0.94253	TCC		PASS	0.552	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		10	8	10	8	---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941590	185941590	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:185941590G>A	ENST00000515777.1	+	4	481	c.393G>A	c.(391-393)gaG>gaA	p.E131E	HELT_ENST00000338875.4_Silent_p.E216E|HELT_ENST00000505610.1_Silent_p.E130E			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	131					central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E216E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGGCGCGGAGCCCGCCTTTC	0.677																																						uc011ckq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)GAG>GAA		HES/HEY-like transcription factor							40.0	48.0	45.0					4																	185941590		2203	4300	6503	SO:0001819	synonymous_variant	391723						DNA binding	g.chr4:185941590G>A	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.393G>A	4.37:g.185941590G>A						HELT_uc011cko.1_Silent_p.E131E|HELT_uc003ixa.3_Silent_p.E130E|HELT_uc011ckp.1_Silent_p.E74E	p.E216E	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	4	648	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	216					B2RTS5|B7ZMI7|B7ZMI8	Silent	SNP	ENST00000515777.1	37	c.648G>A																																																																																					PASS	0.677	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781		5	25	5	25	---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186209226	186209226	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:186209226G>A	ENST00000504273.1	+	6	954	c.660G>A	c.(658-660)aaG>aaA	p.K220K	SNX25_ENST00000264694.8_Silent_p.K220K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	220					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.K220K(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCCAACTGAAGAGGCACAAAG	0.413																																						uc003ixh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(658-660)AAG>AAA		sorting nexin 25							80.0	77.0	78.0					4																	186209226		2203	4300	6503	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186209226G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.660G>A	4.37:g.186209226G>A							p.K220K	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	6	849	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	220					Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.660G>A	CCDS34116.1																																																																																				PASS	0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		28	37	28	37	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186536046	186536046	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:186536046C>T	ENST00000284776.7	-	17	3331	c.2822G>A	c.(2821-2823)gGa>gAa	p.G941E	SORBS2_ENST00000431808.1_Missense_Mutation_p.G941E|SORBS2_ENST00000418609.1_Missense_Mutation_p.G845E|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000319471.9_Missense_Mutation_p.G572E|SORBS2_ENST00000393528.3_Missense_Mutation_p.G507E|SORBS2_ENST00000437304.2_Missense_Mutation_p.G665E|SORBS2_ENST00000355634.5_Missense_Mutation_p.G1041E|SORBS2_ENST00000448662.2_Missense_Mutation_p.G502E|SORBS2_ENST00000449407.2_Missense_Mutation_p.G485E	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	941	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.G502E(1)|p.G941E(1)|p.G665E(1)|p.G507E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TATAGCTTCTCCGATTTCTCC	0.448																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(2821-2823)GGA>GAA		sorbin and SH3 domain containing 2 isoform 2							152.0	162.0	159.0					4																	186536046		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536046C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2822G>A	4.37:g.186536046C>T	ENSP00000284776:p.Gly941Glu					SORBS2_uc003iyh.2_Missense_Mutation_p.G665E|SORBS2_uc011ckw.1_Missense_Mutation_p.G502E|SORBS2_uc003iyi.2_Missense_Mutation_p.G572E|SORBS2_uc011ckx.1_Missense_Mutation_p.G507E|SORBS2_uc003iyk.2_Missense_Mutation_p.G485E|SORBS2_uc003iym.2_Missense_Mutation_p.G1041E|SORBS2_uc003iyn.1_Missense_Mutation_p.G532E|SORBS2_uc011cku.1_Missense_Mutation_p.G333E|SORBS2_uc011ckv.1_Missense_Mutation_p.G845E|SORBS2_uc003iyd.2_Missense_Mutation_p.G640E|SORBS2_uc003iye.2_Missense_Mutation_p.G514E|SORBS2_uc003iya.2_Missense_Mutation_p.G461E|SORBS2_uc003iyb.2_Missense_Mutation_p.G414E|SORBS2_uc003iyc.2_Missense_Mutation_p.G394E|SORBS2_uc003iyg.2_Missense_Mutation_p.G1055E|SORBS2_uc003iyf.2_Missense_Mutation_p.G477E|SORBS2_uc003iyo.1_Missense_Mutation_p.G390E	p.G941E	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	17	3680	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	941			SH3 2.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2822G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813017	0.90707	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;2.21	6.16	6.16	0.99307	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	N	0.25992	0.78	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999;1.0;1.0;0.997;1.0;0.999;0.999;0.963;0.999;0.999	T	0.16394	-1.0404	10	0.56958	D	0.05	-27.5995	20.8598	0.99761	0.0:1.0:0.0:0.0	.	507;502;845;333;390;532;1041;941;485;665;502;532;486;507	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	E	941;502;941;845;665;572;485;1041;507;532;290	ENSP00000284776:G941E;ENSP00000409158:G502E;ENSP00000411764:G941E;ENSP00000397482:G845E;ENSP00000396008:G665E;ENSP00000322182:G572E;ENSP00000397262:G485E;ENSP00000347852:G1041E;ENSP00000377162:G507E;ENSP00000321983:G532E;ENSP00000401818:G290E	ENSP00000284776:G941E	G	-	2	0	SORBS2	186773040	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.448	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	29	9	29	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187159513	187159513	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:187159513G>A	ENST00000264690.6	+	6	779	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	KLKB1_ENST00000513864.1_Missense_Mutation_p.E198K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	198					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.E198K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGCCCTTTCAGAAATTGGTAA	0.502																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(592-594)GAA>AAA		plasma kallikrein B1 precursor							95.0	88.0	90.0					4																	187159513		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187159513G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.592G>A	4.37:g.187159513G>A	ENSP00000264690:p.Glu198Lys					KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.E160K	p.E198K	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	6	663	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	198					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.592G>A	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351829	0.41700	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.88975	-2.45;-2.38	4.97	0.91	0.19337	.	0.780171	0.11818	N	0.526487	T	0.78710	0.4326	N	0.21448	0.665	0.26525	N	0.974361	B;B	0.14012	0.009;0.003	B;B	0.09377	0.004;0.002	T	0.64166	-0.6471	10	0.31617	T	0.26	.	7.0355	0.24991	0.1679:0.2697:0.5623:0.0	.	160;198	E7EQA8;P03952	.;KLKB1_HUMAN	K	198;198;160	ENSP00000264690:E198K;ENSP00000424469:E198K	ENSP00000264690:E198K	E	+	1	0	KLKB1	187396507	1.000000	0.71417	0.918000	0.36340	0.977000	0.68977	0.381000	0.20619	0.265000	0.21872	0.650000	0.86243	GAA		PASS	0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		15	40	15	40	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187584747	187584747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:187584747G>A	ENST00000441802.2	-	3	3495	c.3286C>T	c.(3286-3288)Cga>Tga	p.R1096*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1096	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1096*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGTCCAGTCGATCTGACGTC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3286-3288)CGA>TGA		FAT tumor suppressor 1 precursor							60.0	58.0	59.0					4																	187584747		1979	4165	6144	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187584747G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3286C>T	4.37:g.187584747G>A	ENSP00000406229:p.Arg1096*	HNSCC(5;0.00058)					p.R1096*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			3	3474	-			1096			Extracellular (Potential).|Cadherin 9.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.3286C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	44	10.736508	0.99459	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.07	2.1	0.27182	.	0.416605	0.25341	N	0.031371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.0556	0.14531	0.0736:0.1102:0.4689:0.3472	.	.	.	.	X	1096	.	ENSP00000260147:R1096X	R	-	1	2	FAT1	187821741	0.003000	0.15002	0.538000	0.28064	0.976000	0.68499	1.360000	0.34125	0.709000	0.31976	0.655000	0.94253	CGA		PASS	0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	28	7	28	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629604	187629604	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:187629604G>A	ENST00000441802.2	-	2	1587	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	460	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P460S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATTCAGGGGGATTGCTATTT	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1378-1380)CCC>TCC		FAT tumor suppressor 1 precursor							205.0	202.0	203.0					4																	187629604		1965	4157	6122	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629604G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1378C>T	4.37:g.187629604G>A	ENSP00000406229:p.Pro460Ser	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.P460S	p.P460S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1566	-			460			Extracellular (Potential).|Cadherin 3.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1378C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	5.005	0.186577	0.09495	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60672	2.02;0.17	5.45	3.71	0.42584	Cadherin (3);Cadherin-like (1);	0.217188	0.48286	D	0.000187	T	0.38746	0.1052	L	0.39085	1.19	0.31197	N	0.700257	B	0.09022	0.002	B	0.08055	0.003	T	0.32107	-0.9919	10	0.08837	T	0.75	.	5.7234	0.18000	0.0695:0.2608:0.5346:0.1351	.	460	Q14517	FAT1_HUMAN	S	460	ENSP00000406229:P460S;ENSP00000423736:P460S	ENSP00000260147:P460S	P	-	1	0	FAT1	187866598	0.948000	0.32251	0.605000	0.28930	0.766000	0.43426	1.310000	0.33551	0.849000	0.35215	0.561000	0.74099	CCC		PASS	0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		77	112	77	112	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189061083	189061083	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:189061083G>A	ENST00000332517.3	+	1	511	c.371G>A	c.(370-372)aGa>aAa	p.R124K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	124					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R124K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTGCAAACAGAGTGCATCTC	0.592																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(370-372)AGA>AAA		tripartite motif family-like 1							50.0	47.0	48.0					4																	189061083		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061083G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.371G>A	4.37:g.189061083G>A	ENSP00000327738:p.Arg124Lys						p.R124K	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	486	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	124					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.371G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156272	0.09236	.	.	ENSG00000184108	ENST00000332517	T	0.62105	0.05	5.06	4.2	0.49525	.	0.344078	0.25164	N	0.032647	T	0.53753	0.1816	M	0.64997	1.995	0.09310	N	0.999997	B	0.15141	0.012	B	0.15052	0.012	T	0.40776	-0.9545	10	0.09338	T	0.73	-19.2301	10.5526	0.45099	0.0932:0.0:0.9068:0.0	.	124	Q8N9V2	TRIML_HUMAN	K	124	ENSP00000327738:R124K	ENSP00000327738:R124K	R	+	2	0	TRIML1	189298077	0.000000	0.05858	0.217000	0.23759	0.004000	0.04260	-0.038000	0.12144	1.419000	0.47118	0.561000	0.74099	AGA		PASS	0.592	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		11	39	11	39	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1087030	1087030	+	Silent	SNP	G	G	A	rs148809420		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:1087030G>A	ENST00000264930.5	-	6	706	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	221					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.I221I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAAAATCTCGATGGTCCCCA	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19332	0.0		0.0	False		,,,				2504	0.0					uc003jbu.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(661-663)ATC>ATT		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						75.0	74.0	74.0					5																	1087030		2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1087030G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.663C>T	5.37:g.1087030G>A							p.I221I	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		6	729	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		221			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.663C>T	CCDS34129.1																																																																																				PASS	0.587	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		16	48	16	48	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1093770	1093770	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:1093770C>T	ENST00000264930.5	-	3	263	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	74					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.E74K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCATCTCCTCCTGCGCGGCG	0.682																																						uc003jbu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(220-222)GAG>AAG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						95.0	66.0	76.0					5																	1093770		2202	4299	6501	SO:0001630	splice_region_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1093770C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.220-1G>A	5.37:g.1093770C>T							p.E74K	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		3	286	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		74			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.220G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363627	0.82353	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.85861	-2.04	4.08	4.08	0.47627	.	0.058106	0.64402	D	0.000002	D	0.88202	0.6373	M	0.84082	2.675	0.80722	D	1	P	0.43909	0.821	P	0.45660	0.489	D	0.90150	0.4220	10	0.56958	D	0.05	.	15.1854	0.72996	0.0:1.0:0.0:0.0	.	74	Q9Y666	S12A7_HUMAN	K	74	ENSP00000264930:E74K	ENSP00000264930:E74K	E	-	1	0	SLC12A7	1146770	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	6.544000	0.73878	1.991000	0.58162	0.385000	0.25706	GAG		PASS	0.682	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	Missense_Mutation	5	7	5	7	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1208984	1208984	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:1208984C>T	ENST00000304460.10	+	2	382	c.326C>T	c.(325-327)cCg>cTg	p.P109L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	109					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.P109L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCATCCACCCGGCCCTGAAG	0.701																																						uc003jbw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)CCG>CTG		solute carrier family 6, member 19							32.0	35.0	34.0					5																	1208984		2201	4299	6500	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208984C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.326C>T	5.37:g.1208984C>T	ENSP00000305302:p.Pro109Leu						p.P109L	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	382	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		109			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.326C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518097	0.85495	.	.	ENSG00000174358	ENST00000304460	D	0.86865	-2.18	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	H	0.99379	4.54	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.99143	1.0856	10	0.87932	D	0	.	17.3733	0.87384	0.0:1.0:0.0:0.0	.	109	Q695T7	S6A19_HUMAN	L	109	ENSP00000305302:P109L	ENSP00000305302:P109L	P	+	2	0	SLC6A19	1261984	1.000000	0.71417	0.967000	0.41034	0.853000	0.48598	5.846000	0.69444	2.091000	0.63221	0.485000	0.47835	CCG		PASS	0.701	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		7	13	7	13	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1422015	1422015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:1422015C>T	ENST00000270349.9	-	5	895	c.768G>A	c.(766-768)tgG>tgA	p.W256*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.W256*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	256					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.W256*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCACGCCCTTCCAGAGGCTGA	0.637																																						uc003jck.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(766-768)TGG>TGA		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						109.0	94.0	99.0					5																	1422015		2203	4300	6503	SO:0001587	stop_gained	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422015C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.768G>A	5.37:g.1422015C>T	ENSP00000270349:p.Trp256*						p.W256*	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	889	-			256			Helical; Name=4; (Potential).		A2RUN4|Q14996	Nonsense_Mutation	SNP	ENST00000270349.9	37	c.768G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	36	5.683162	0.96774	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	.	.	.	4.4	4.4	0.53042	.	0.132851	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8325	0.70159	0.0:1.0:0.0:0.0	.	.	.	.	X	256;256;182	.	ENSP00000270349:W256X	W	-	3	0	SLC6A3	1475015	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.166000	0.77553	2.145000	0.66743	0.462000	0.41574	TGG		PASS	0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	56	15	56	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5242288	5242288	+	Silent	SNP	C	C	T	rs35767796		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:5242288C>T	ENST00000274181.7	+	17	2784	c.2646C>T	c.(2644-2646)tcC>tcT	p.S882S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	882	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S882S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGAGTGCTCCGTGTCCTGCG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16866	0.0		0.0	False		,,,				2504	0.0					uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2644-2646)TCC>TCT		ADAM metallopeptidase with thrombospondin type 1		C		1,4213		0,1,2106	43.0	48.0	46.0		2646	-9.8	0.6	5	dbSNP_126	46	3,8459		0,3,4228	no	coding-synonymous	ADAMTS16	NM_139056.2		0,4,6334	TT,TC,CC		0.0355,0.0237,0.0316		882/1225	5242288	4,12672	2107	4231	6338	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242288C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2646C>T	5.37:g.5242288C>T						ADAMTS16_uc003jdk.1_Silent_p.S882S	p.S882S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2784	+			882			TSP type-1 2.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2646C>T	CCDS43299.1																																																																																				PASS	0.622	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		7	22	7	22	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463364	5463364	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:5463364G>T	ENST00000296564.7	+	13	4139	c.3917G>T	c.(3916-3918)cGg>cTg	p.R1306L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1306					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.R1306L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTCCATTTCGGGAAACGACT	0.438																																						uc003jdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3916-3918)CGG>CTG		hypothetical protein LOC23379							36.0	37.0	36.0					5																	5463364		1953	4145	6098	SO:0001583	missense	23379							g.chr5:5463364G>T																												ENST00000296564.7:c.3917G>T	5.37:g.5463364G>T	ENSP00000296564:p.Arg1306Leu						p.R1306L	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4139	+			1306					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3917G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	5.949	0.359120	0.11239	.	.	ENSG00000164151	ENST00000296564	T	0.09538	2.97	5.01	-7.6	0.01303	.	.	.	.	.	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40440	-0.9563	9	0.27785	T	0.31	0.38	1.6909	0.02852	0.1544:0.1214:0.3088:0.4154	.	1306	Q9Y2F5	K0947_HUMAN	L	1306	ENSP00000296564:R1306L	ENSP00000296564:R1306L	R	+	2	0	KIAA0947	5516364	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.335000	0.07873	-1.272000	0.02427	0.305000	0.20034	CGG		PASS	0.438	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			4	17	4	17	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7804718	7804718	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:7804718C>T	ENST00000338316.4	+	22	2885	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	ADCY2_ENST00000537121.1_Silent_p.F752F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	932					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F932F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCCAAAATTCAGTGGAGTTG	0.483																																						uc003jdz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2794-2796)TTC>TTT		adenylate cyclase 2							77.0	74.0	75.0					5																	7804718		2203	4300	6503	SO:0001819	synonymous_variant	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7804718C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2796C>T	5.37:g.7804718C>T						ADCY2_uc011cmo.1_Silent_p.F752F|ADCY2_uc010itm.1_Silent_p.F128F	p.F932F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			22	2863	+			932			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2796C>T	CCDS3872.2																																																																																				PASS	0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		17	20	17	20	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9190533	9190533	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:9190533C>A	ENST00000382496.5	-	11	1784	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	373	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.L373L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAGCATCCTGCAGATTTCTCT	0.577																																						uc003jek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1117-1119)CTG>CTT		semaphorin 5A precursor							126.0	101.0	110.0					5																	9190533		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9190533C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1119G>T	5.37:g.9190533C>A							p.L373L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			11	1831	-			373			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1119G>T	CCDS3875.1																																																																																				PASS	0.577	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	20	10	20	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10426588	10426588	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:10426588C>T	ENST00000274140.5	+	24	2592	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	MARCH6_ENST00000503788.1_Silent_p.S715S|MARCH6_ENST00000449913.2_Silent_p.S772S|MARCH6_ENST00000510792.1_Silent_p.S518S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	820					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S820S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTTGCTTTCCCTGTGTGTAC	0.433																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2458-2460)TCC>TCT		membrane-associated ring finger (C3HC4) 6							449.0	381.0	404.0					5																	10426588		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426588C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2460C>T	5.37:g.10426588C>T						MARCH6_uc011cmu.1_Silent_p.S772S|MARCH6_uc003jeu.1_Silent_p.S518S|MARCH6_uc011cmv.1_Silent_p.S715S	p.S820S	NM_005885	NP_005876	O60337	MARH6_HUMAN			24	2643	+			820			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.2460C>T	CCDS34135.1																																																																																				PASS	0.433	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		25	58	25	58	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11022941	11022941	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:11022941G>A	ENST00000304623.8	-	17	3128	c.2939C>T	c.(2938-2940)gCc>gTc	p.A980V	CTNND2_ENST00000511377.1_Missense_Mutation_p.A889V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A643V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A547V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A922V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	980				A -> G (in Ref. 8; AAB97957). {ECO:0000305}.	cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A980V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCCCGTAAGGCCTTGGCGTT	0.507																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2938-2940)GCC>GTC		catenin (cadherin-associated protein), delta 2							215.0	164.0	181.0					5																	11022941		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11022941G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2939C>T	5.37:g.11022941G>A	ENSP00000307134:p.Ala980Val					CTNND2_uc010itt.2_Missense_Mutation_p.A889V|CTNND2_uc011cmy.1_Missense_Mutation_p.A643V|CTNND2_uc011cmz.1_Missense_Mutation_p.A547V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A572V	p.A980V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			17	3084	-			980	A -> G (in Ref. 8; AAB97957).		ARM 9.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2939C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619288	0.96649	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	M	0.67397	2.05	0.80722	D	1	D;D;D	0.69078	0.993;0.993;0.997	D;D;D	0.72625	0.978;0.978;0.97	T	0.67522	-0.5649	10	0.49607	T	0.09	-21.9222	19.7154	0.96115	0.0:0.0:1.0:0.0	.	643;572;980	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	980;922;889;75;547;643	ENSP00000307134:A980V;ENSP00000352661:A922V;ENSP00000426510:A889V;ENSP00000391155:A547V;ENSP00000426887:A643V	ENSP00000307134:A980V	A	-	2	0	CTNND2	11075941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.664000	0.90586	0.655000	0.94253	GCC		PASS	0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		14	43	14	43	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11082931	11082931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:11082931G>A	ENST00000304623.8	-	16	2854	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R798*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R552*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R456*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R831*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	889					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R889*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTTTTCGGACAGCGGCT	0.537																																						uc003jfa.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2665-2667)CGA>TGA		catenin (cadherin-associated protein), delta 2							80.0	72.0	75.0					5																	11082931		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082931G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2665C>T	5.37:g.11082931G>A	ENSP00000307134:p.Arg889*					CTNND2_uc010itt.2_Nonsense_Mutation_p.R798*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R552*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R456*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R481*	p.R889*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2810	-			889			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.2665C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	44	10.535527	0.99423	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1838	18.4893	0.90841	0.0:0.0:1.0:0.0	.	.	.	.	X	889;831;798;456;552	.	ENSP00000307134:R889X	R	-	1	2	CTNND2	11135931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.525000	0.73795	2.439000	0.82584	0.563000	0.77884	CGA		PASS	0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		8	21	8	21	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411723	11411723	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:11411723C>T	ENST00000304623.8	-	5	553	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CTNND2_ENST00000511377.1_Missense_Mutation_p.E31K|CTNND2_ENST00000503622.1_Missense_Mutation_p.E31K|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E122K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	122					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E122K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCACCAGCTCGAGACCTGTT	0.373																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(364-366)GAG>AAG		catenin (cadherin-associated protein), delta 2							122.0	113.0	116.0					5																	11411723		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11411723C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.364G>A	5.37:g.11411723C>T	ENSP00000307134:p.Glu122Lys					CTNND2_uc010itt.2_Missense_Mutation_p.E31K|CTNND2_uc011cmy.1_Missense_Mutation_p.E31K|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.E122K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	509	-			122					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.364G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402916	0.83230	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;D	0.86956	-0.99;-1.06;-1.02;-2.19	5.86	5.86	0.93980	Armadillo-like helical (1);	0.137440	0.47093	D	0.000245	D	0.91805	0.7407	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.992;0.997	P;D	0.68039	0.905;0.955	D	0.91353	0.5106	10	0.56958	D	0.05	-21.7932	20.1951	0.98241	0.0:1.0:0.0:0.0	.	31;122	B4DRK2;Q9UQB3	.;CTND2_HUMAN	K	122;122;31;31;108;31;108	ENSP00000307134:E122K;ENSP00000352661:E122K;ENSP00000426510:E31K;ENSP00000426887:E31K	ENSP00000307134:E122K	E	-	1	0	CTNND2	11464723	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.431000	0.80335	2.780000	0.95670	0.585000	0.79938	GAG		PASS	0.373	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	26	7	26	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13737373	13737373	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:13737373C>T	ENST00000265104.4	-	66	11547	c.11443G>A	c.(11443-11445)Gaa>Aaa	p.E3815K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3815					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3815K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCTGTATTCCTCCCGGGCT	0.428									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11443-11445)GAA>AAA		dynein, axonemal, heavy chain 5							119.0	122.0	121.0					5																	13737373		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737373C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11443G>A	5.37:g.13737373C>T	ENSP00000265104:p.Glu3815Lys					DNAH5_uc003jfc.2_Intron	p.E3815K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			66	11485	-	Lung NSC(4;0.00476)		3815			Potential.		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11443G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356270	0.95854	.	.	ENSG00000039139	ENST00000265104	D	0.85629	-2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	M	0.75264	2.295	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	D	0.92220	0.5783	10	0.62326	D	0.03	.	19.2675	0.93996	0.0:1.0:0.0:0.0	.	3815	Q8TE73	DYH5_HUMAN	K	3815	ENSP00000265104:E3815K	ENSP00000265104:E3815K	E	-	1	0	DNAH5	13790373	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.770000	0.85390	2.573000	0.86826	0.655000	0.94253	GAA		PASS	0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	34	12	34	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13752308	13752308	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:13752308C>T	ENST00000265104.4	-	64	11067	c.10963G>A	c.(10963-10965)Gaa>Aaa	p.E3655K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3655	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3655K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATCTAGTTCCTCTCCAACA	0.398									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10963-10965)GAA>AAA		dynein, axonemal, heavy chain 5							152.0	136.0	142.0					5																	13752308		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13752308C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10963G>A	5.37:g.13752308C>T	ENSP00000265104:p.Glu3655Lys					DNAH5_uc003jfc.2_5'UTR	p.E3655K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			64	11005	-	Lung NSC(4;0.00476)		3655			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10963G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597309	0.96602	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.71	5.71	0.89125	.	0.143692	0.64402	D	0.000009	T	0.53834	0.1821	M	0.84585	2.705	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.56432	-0.7980	10	0.62326	D	0.03	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	3655	Q8TE73	DYH5_HUMAN	K	3655	ENSP00000265104:E3655K	ENSP00000265104:E3655K	E	-	1	0	DNAH5	13805308	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.308000	0.78929	2.861000	0.98227	0.650000	0.86243	GAA		PASS	0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	62	12	62	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13820578	13820578	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:13820578G>T	ENST00000265104.4	-	41	6822	c.6718C>A	c.(6718-6720)Cct>Act	p.P2240T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2240	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2240T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTTTCCAAGGAGGATGGTTG	0.512									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6718-6720)CCT>ACT		dynein, axonemal, heavy chain 5							101.0	91.0	94.0					5																	13820578		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13820578G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6718C>A	5.37:g.13820578G>T	ENSP00000265104:p.Pro2240Thr						p.P2240T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			41	6760	-	Lung NSC(4;0.00476)		2240			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6718C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415387	0.62511	.	.	ENSG00000039139	ENST00000265104	T	0.49432	0.78	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	L	0.58101	1.795	0.80722	D	1	B	0.28470	0.213	B	0.27500	0.08	T	0.38090	-0.9677	10	0.27082	T	0.32	.	19.4023	0.94635	0.0:0.0:1.0:0.0	.	2240	Q8TE73	DYH5_HUMAN	T	2240	ENSP00000265104:P2240T	ENSP00000265104:P2240T	P	-	1	0	DNAH5	13873578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.675000	0.98638	2.579000	0.87056	0.650000	0.86243	CCT		PASS	0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	25	13	25	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13911603	13911603	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:13911603C>T	ENST00000265104.4	-	12	1641		c.e12-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.?(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACAATGCCCTGAAATATTA	0.313									Kartagener syndrome																													uc003jfd.2																			1	Unknown(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.e12-1		dynein, axonemal, heavy chain 5							83.0	83.0	83.0					5																	13911603		2202	4300	6502	SO:0001630	splice_region_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13911603C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1537-1G>A	5.37:g.13911603C>T						DNAH5_uc003jfe.1_Intron	p.G513_splice	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			12	1579	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.1537_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057013	0.76074	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5281	0.95214	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13964603	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.959000	0.76031	2.696000	0.92011	0.655000	0.94253	.		PASS	0.313	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	10	29	10	29	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14286983	14286983	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:14286983G>A	ENST00000344204.4	+	4	375	c.351G>A	c.(349-351)gaG>gaA	p.E117E	TRIO_ENST00000509967.2_Silent_p.E68E|TRIO_ENST00000537187.1_Silent_p.E117E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	117	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E117E(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTGCAGCGAGGAGGTCTGCA	0.582																																						uc003jff.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(349-351)GAG>GAA		triple functional domain (PTPRF interacting)							98.0	83.0	88.0					5																	14286983		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14286983G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.351G>A	5.37:g.14286983G>A						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.E68E	p.E117E	NM_007118	NP_009049	O75962	TRIO_HUMAN			4	357	+	Lung NSC(4;0.000742)		117			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.351G>A	CCDS3883.1																																																																																				PASS	0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		6	26	6	26	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14498737	14498737	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:14498737C>T	ENST00000344204.4	+	53	8344	c.8320C>T	c.(8320-8322)Ctg>Ttg	p.L2774L	TRIO_ENST00000537187.1_Silent_p.L2598L|TRIO_ENST00000344135.5_Silent_p.L273L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2774	Ig-like C2-type.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L2774L(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCGGCCAGCCTGAGGGTCCT	0.567																																						uc003jff.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(8320-8322)CTG>TTG		triple functional domain (PTPRF interacting)							188.0	160.0	169.0					5																	14498737		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14498737C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8320C>T	5.37:g.14498737C>T						TRIO_uc003jfg.2_RNA	p.L2774L	NM_007118	NP_009049	O75962	TRIO_HUMAN			53	8326	+	Lung NSC(4;0.000742)		2774			Ig-like C2-type.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.8320C>T	CCDS3883.1																																																																																				PASS	0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		12	62	12	62	---	---	---	---
MARCH11	441061	broad.mit.edu	37	5	16177920	16177920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:16177920C>T	ENST00000332432.8	-	2	807	c.608G>A	c.(607-609)tGg>tAg	p.W203*	MARCH11_ENST00000505509.1_5'UTR|RP11-19O2.2_ENST00000509037.1_RNA	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	203					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W203*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CTCACTGATCCATTTTAGCAG	0.433																																						uc003jfo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(607-609)TGG>TAG		membrane-associated ring finger (C3HC4) 11							108.0	105.0	106.0					5																	16177920		1931	4136	6067	SO:0001587	stop_gained	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177920C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.608G>A	5.37:g.16177920C>T	ENSP00000333181:p.Trp203*					uc003jfp.2_5'Flank	p.W203*	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			2	821	-			203			RING-CH-type.		A7E2S6	Nonsense_Mutation	SNP	ENST00000332432.8	37	c.608G>A	CCDS47192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.187141|9.187141	0.99094|0.99094	.|.	.|.	ENSG00000183654|ENSG00000183654	ENST00000507111|ENST00000332432	.|.	.|.	.|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.095588	.|0.46145	.|U	.|0.000318	T|.	0.48114|.	0.1482|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37267|.	-0.9713|.	3|.	.|0.02654	.|T	.|1	-8.2739|-8.2739	19.7964|19.7964	0.96487|0.96487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	7|203	.|.	.|ENSP00000333181:W203X	G|W	-|-	1|2	0|0	MARCH11|MARCH11	16230920|16230920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.731000|7.731000	0.84895|0.84895	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.433	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		21	58	21	58	---	---	---	---
ZNF622	90441	broad.mit.edu	37	5	16463280	16463280	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:16463280C>G	ENST00000308683.2	-	3	1112	c.986G>C	c.(985-987)aGc>aCc	p.S329T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	329					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S329T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTTACAGTGGCTTTTGTCATT	0.423																																						uc003jfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(985-987)AGC>ACC		zinc finger protein 622							192.0	192.0	192.0					5																	16463280		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463280C>G	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.986G>C	5.37:g.16463280C>G	ENSP00000310042:p.Ser329Thr						p.S329T	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			3	1106	-			329						Missense_Mutation	SNP	ENST00000308683.2	37	c.986G>C	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961157	0.92791	.	.	ENSG00000173545	ENST00000308683	T	0.44083	0.93	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.67910	-0.5548	10	0.62326	D	0.03	0.1989	20.2279	0.98344	0.0:1.0:0.0:0.0	.	329	Q969S3	ZN622_HUMAN	T	329	ENSP00000310042:S329T	ENSP00000310042:S329T	S	-	2	0	ZNF622	16516280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.778000	0.95560	0.655000	0.94253	AGC		PASS	0.423	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		6	149	6	149	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487843	24487843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:24487843G>A	ENST00000264463.4	-	12	2803	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	766					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.R766*(1)|p.R766R(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)		CCCCATTCTCGGAGGTAATCG	0.413										HNSCC(23;0.051)																												uc003jgr.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)	ovary(6)|pancreas(4)|breast(2)	12						c.(2296-2298)CGA>TGA		cadherin 10, type 2 preproprotein							162.0	162.0	162.0					5																	24487843		2203	4300	6503	SO:0001587	stop_gained	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487843G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2296C>T	5.37:g.24487843G>A	ENSP00000264463:p.Arg766*	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R766*	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2628	-			766			Cytoplasmic (Potential).		Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	c.2296C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	43	10.269049	0.99372	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.81	4.89	0.63831	.	0.230161	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	12.7964	0.57562	0.0:0.0:0.7195:0.2805	.	.	.	.	X	766	.	ENSP00000264463:R766X	R	-	1	2	CDH10	24523600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.751000	0.62169	2.750000	0.94351	0.655000	0.94253	CGA		PASS	0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		34	62	34	62	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488000	24488000	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:24488000G>A	ENST00000264463.4	-	12	2646	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	713					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.F713F(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)		TTTCATTAATGAAATCCCGGA	0.458										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2137-2139)TTC>TTT		cadherin 10, type 2 preproprotein							91.0	96.0	95.0					5																	24488000		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488000G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2139C>T	5.37:g.24488000G>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.F713F	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2471	-			713			Cytoplasmic (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2139C>T	CCDS3892.1																																																																																				PASS	0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	39	9	39	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24511541	24511541	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:24511541C>T	ENST00000264463.4	-	6	1404	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G299G(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)		CAGCATTTTTCCCAGTGTCAG	0.423										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(895-897)GGG>GGA		cadherin 10, type 2 preproprotein							184.0	151.0	162.0					5																	24511541		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511541C>T	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.897G>A	5.37:g.24511541C>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G299G	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1229	-			299			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.897G>A	CCDS3892.1																																																																																				PASS	0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		22	47	22	47	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886136	26886136	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:26886136G>A	ENST00000231021.4	-	10	1741	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F523L(2)|p.F523F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTCAAAAAAGAATTTGTGAC	0.313																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		large_intestine(2)|lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1567-1569)TTC>TTT		cadherin 9, type 2 preproprotein							76.0	86.0	83.0					5																	26886136		2202	4300	6502	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886136G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1569C>T	5.37:g.26886136G>A						CDH9_uc011cnv.1_Silent_p.F116F	p.F523F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1738	-			523			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1569C>T	CCDS3893.1																																																																																				PASS	0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		16	55	16	55	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915832	26915832	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:26915832C>T	ENST00000231021.4	-	3	601	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	143	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S143S(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGATAAATTCCGATTCCGGTT	0.398																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(427-429)TCG>TCA		cadherin 9, type 2 preproprotein							116.0	116.0	116.0					5																	26915832		2203	4299	6502	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915832C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.429G>A	5.37:g.26915832C>T						CDH9_uc010iug.2_Silent_p.S143S	p.S143S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	598	-			143			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.429G>A	CCDS3893.1																																																																																				PASS	0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		24	81	24	81	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26988258	26988258	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:26988258G>A	ENST00000231021.4	-	2	355	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F61F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCAATAAGAAGAACTGAT	0.378																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(181-183)TTC>TTT		cadherin 9, type 2 preproprotein							95.0	90.0	92.0					5																	26988258		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988258G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.183C>T	5.37:g.26988258G>A						CDH9_uc010iug.2_Silent_p.F61F	p.F61F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	352	-			61			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.183C>T	CCDS3893.1																																																																																				PASS	0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	16	7	16	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31526644	31526644	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:31526644G>A	ENST00000511367.2	-	4	640	c.396C>T	c.(394-396)gtC>gtT	p.V132V	DROSHA_ENST00000442743.1_Silent_p.V132V|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000344624.3_Silent_p.V132V|DROSHA_ENST00000513349.1_Silent_p.V132V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	132	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.V132V(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTGCCCCAGGGACTGGGGGGT	0.607																																						uc003jhg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)GTC>GTT		ribonuclease III, nuclear isoform 1							18.0	20.0	19.0					5																	31526644		1911	4109	6020	SO:0001819	synonymous_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526644G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.396C>T	5.37:g.31526644G>A						RNASEN_uc003jhh.2_Silent_p.V132V|RNASEN_uc003jhi.2_Silent_p.V132V|RNASEN_uc010iui.1_Silent_p.V123V	p.V132V	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			4	755	-			132			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	c.396C>T	CCDS47195.1																																																																																				PASS	0.607	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		10	13	10	13	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789682	32789682	+	3'UTR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:32789682C>T	ENST00000265074.8	+	0	5200				AC026703.1_ENST00000326958.1_Missense_Mutation_p.L59F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.L59F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCTCCTTTCTCTTAAATTCAA	0.398																																						uc003jhw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)CTT>TTT		hypothetical protein LOC79614							92.0	92.0	92.0					5																	32789682		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79614							g.chr5:32789682C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3231C>T	5.37:g.32789682C>T							p.L59F	NM_024563	NP_078839					1	738	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.175C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	6.037	0.375193	0.11409	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.42	2.61	0.31194	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35822	-0.9773	5	0.87932	D	0	.	7.2855	0.26335	0.0:0.7933:0.0:0.2067	.	.	.	.	F	59	.	ENSP00000318340:L59F	L	+	1	0	AC026703.1	32825439	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	0.641000	0.24720	0.595000	0.29777	0.467000	0.42956	CTT		PASS	0.398	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	37	8	37	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576467	33576467	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:33576467G>A	ENST00000504830.1	-	19	3999	c.3664C>T	c.(3664-3666)Ccc>Tcc	p.P1222S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1137S|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1222S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTGGCTGGGGAGCAGTCCT	0.552										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3664-3666)CCC>TCC		ADAM metallopeptidase with thrombospondin type 1							140.0	134.0	136.0					5																	33576467		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576467G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3664C>T	5.37:g.33576467G>A	ENSP00000422554:p.Pro1222Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1137S	p.P1222S	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3827	-			1222			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3664C>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	6.989	0.552576	0.13374	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.32;0.26	5.04	0.774	0.18521	.	0.558647	0.19294	N	0.117814	T	0.32971	0.0847	L	0.34521	1.04	0.24904	N	0.992082	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.09707	-1.0662	10	0.08179	T	0.78	.	0.5777	0.00706	0.2129:0.1457:0.2644:0.3771	.	1137;1222	P58397-3;P58397	.;ATS12_HUMAN	S	1222;1137	ENSP00000422554:P1222S;ENSP00000344847:P1137S	ENSP00000344847:P1137S	P	-	1	0	ADAMTS12	33612224	0.130000	0.22417	0.004000	0.12327	0.376000	0.30014	0.396000	0.20867	0.278000	0.22164	-0.274000	0.10170	CCC		PASS	0.552	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		26	49	26	49	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33649739	33649739	+	Silent	SNP	G	G	A	rs369781490		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:33649739G>A	ENST00000504830.1	-	8	1589	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	ADAMTS12_ENST00000352040.3_Silent_p.I418I|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	418	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I418I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCGGGACATGATGTACGGAT	0.547										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1252-1254)ATC>ATT		ADAM metallopeptidase with thrombospondin type 1		G		0,4406		0,0,2203	179.0	151.0	161.0		1254	5.6	1.0	5		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS12	NM_030955.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		418/1595	33649739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33649739G>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1254C>T	5.37:g.33649739G>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.I418I	p.I418I	NM_030955	NP_112217	P58397	ATS12_HUMAN			8	1417	-			418			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1254C>T	CCDS34140.1																																																																																				PASS	0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		27	34	27	34	---	---	---	---
AGXT2	64902	broad.mit.edu	37	5	35025919	35025919	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35025919C>T	ENST00000231420.6	-	9	1112	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	304					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)	p.K304K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CAAAGGCTTCCTTTAGAAACC	0.483																																						uc003jjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(910-912)AAG>AAA		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						90.0	86.0	87.0					5																	35025919		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35025919C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.912G>A	5.37:g.35025919C>T						AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Silent_p.K304K	p.K304K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	9	991	-	all_lung(31;4.52e-05)		304					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.912G>A	CCDS3908.1																																																																																				PASS	0.483	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		10	34	10	34	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35641538	35641538	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35641538C>T	ENST00000356031.3	+	3	321	c.167C>T	c.(166-168)tCa>tTa	p.S56L	SPEF2_ENST00000509059.1_Missense_Mutation_p.S56L|SPEF2_ENST00000440995.2_Missense_Mutation_p.S56L|SPEF2_ENST00000282469.6_Missense_Mutation_p.S56L	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	56	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S56L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAGGGTTTCAAGTGCCAAA	0.333																																						uc003jjo.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(166-168)TCA>TTA		KPL2 protein isoform 1							70.0	75.0	73.0					5																	35641538		2203	4299	6502	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641538C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.167C>T	5.37:g.35641538C>T	ENSP00000348314:p.Ser56Leu					SPEF2_uc003jjn.1_Missense_Mutation_p.S56L|SPEF2_uc003jjq.3_Missense_Mutation_p.S56L	p.S56L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	278	+	all_lung(31;7.56e-05)		56			CH.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.167C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083475	0.94050	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.93	5.93	0.95920	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	L	0.55834	1.745	0.80722	D	1	D;D;P	0.71674	0.998;0.997;0.921	D;D;B	0.76071	0.987;0.953;0.42	T	0.13361	-1.0512	10	0.56958	D	0.05	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	56;56;56	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	L	56	ENSP00000282469:S56L;ENSP00000348314:S56L;ENSP00000421593:S56L;ENSP00000426259:S56L;ENSP00000412125:S56L	ENSP00000282469:S56L	S	+	2	0	SPEF2	35677295	0.696000	0.27757	0.754000	0.31244	0.992000	0.81027	4.806000	0.62569	2.814000	0.96858	0.655000	0.94253	TCA		PASS	0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		16	30	16	30	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35644570	35644570	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35644570G>T	ENST00000356031.3	+	4	682	c.528G>T	c.(526-528)gaG>gaT	p.E176D	SPEF2_ENST00000509059.1_Missense_Mutation_p.E176D|SPEF2_ENST00000440995.2_Missense_Mutation_p.E176D|SPEF2_ENST00000282469.6_Missense_Mutation_p.E176D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	176					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E176D(2)|p.E176E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCATTTTGAGAAACTTGAAA	0.313																																						uc003jjo.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.E176G(1)	lung(4)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(526-528)GAG>GAT		KPL2 protein isoform 1							39.0	40.0	39.0					5																	35644570		2201	4297	6498	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35644570G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.528G>T	5.37:g.35644570G>T	ENSP00000348314:p.Glu176Asp					SPEF2_uc003jjn.1_Missense_Mutation_p.E176D|SPEF2_uc003jjq.3_Missense_Mutation_p.E176D	p.E176D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	639	+	all_lung(31;7.56e-05)		176					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.528G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	4.202	0.036218	0.08148	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.43	4.44	0.53790	.	0.528581	0.18631	N	0.135591	T	0.06234	0.0161	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.26363	0.147;0.017;0.001	B;B;B	0.21546	0.035;0.006;0.004	T	0.35699	-0.9778	10	0.13108	T	0.6	.	2.5459	0.04736	0.1897:0.0:0.5138:0.2964	.	176;176;176	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	D	176	ENSP00000282469:E176D;ENSP00000348314:E176D;ENSP00000421593:E176D;ENSP00000412125:E176D	ENSP00000282469:E176D	E	+	3	2	SPEF2	35680327	1.000000	0.71417	0.979000	0.43373	0.103000	0.19146	2.643000	0.46604	2.547000	0.85894	0.650000	0.86243	GAG		PASS	0.313	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	19	6	19	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35704730	35704730	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35704730G>A	ENST00000356031.3	+	17	2627	c.2473G>A	c.(2473-2475)Gga>Aga	p.G825R	SPEF2_ENST00000509059.1_Missense_Mutation_p.G820R|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.G820R	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	825					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.G825R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATAAGGATGGAGACCAAAA	0.323																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2473-2475)GGA>AGA		KPL2 protein isoform 1							130.0	125.0	127.0					5																	35704730		1837	4089	5926	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35704730G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2473G>A	5.37:g.35704730G>A	ENSP00000348314:p.Gly825Arg					SPEF2_uc003jjq.3_Missense_Mutation_p.G820R|SPEF2_uc003jjp.1_Missense_Mutation_p.G311R	p.G825R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	2584	+	all_lung(31;7.56e-05)		825					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2473G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378894	0.11466	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29142	3.47;3.34;3.47;1.58	5.76	1.99	0.26369	.	1.266060	0.05217	N	0.507801	T	0.18841	0.0452	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20671	0.047;0.007;0.004	B;B;B	0.19148	0.024;0.006;0.002	T	0.25012	-1.0144	10	0.35671	T	0.21	.	5.4768	0.16700	0.2999:0.1369:0.5632:0.0	.	820;820;825	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	R	825;820;820;331	ENSP00000348314:G825R;ENSP00000421593:G820R;ENSP00000412125:G820R;ENSP00000421744:G331R	ENSP00000348314:G825R	G	+	1	0	SPEF2	35740487	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.412000	0.34714	0.370000	0.24538	-1.106000	0.02097	GGA		PASS	0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		14	44	14	44	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35705851	35705851	+	Missense_Mutation	SNP	C	C	T	rs368700853		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35705851C>T	ENST00000356031.3	+	18	2760	c.2606C>T	c.(2605-2607)tCt>tTt	p.S869F	SPEF2_ENST00000509059.1_Missense_Mutation_p.S864F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.S864F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	869					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.S869F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATAAGGAATCTTTATGTGAA	0.284																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2605-2607)TCT>TTT		KPL2 protein isoform 1							37.0	33.0	34.0					5																	35705851		1782	4052	5834	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35705851C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2606C>T	5.37:g.35705851C>T	ENSP00000348314:p.Ser869Phe					SPEF2_uc003jjq.3_Missense_Mutation_p.S864F|SPEF2_uc003jjp.1_Missense_Mutation_p.S355F	p.S869F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2717	+	all_lung(31;7.56e-05)		869					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2606C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	2.354	-0.348174	0.05208	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.77	1.84	0.25277	.	0.731879	0.13484	N	0.384471	T	0.21674	0.0522	L	0.38838	1.175	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.12156	0.005;0.007;0.003	T	0.26573	-1.0099	10	0.23891	T	0.37	.	8.0075	0.30334	0.0:0.5646:0.0:0.4354	.	864;864;869	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	F	869;864;864;375	ENSP00000348314:S869F;ENSP00000421593:S864F;ENSP00000412125:S864F;ENSP00000421744:S375F	ENSP00000348314:S869F	S	+	2	0	SPEF2	35741608	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.033000	0.12246	0.041000	0.15688	-0.312000	0.09012	TCT		PASS	0.284	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	19	3	19	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35806982	35806982	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:35806982C>T	ENST00000356031.3	+	35	5338	c.5184C>T	c.(5182-5184)ttC>ttT	p.F1728F	SPEF2_ENST00000303129.4_Silent_p.F525F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.F1723F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1728					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.F1728F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAAAGTGTTCAAAGGGGGAA	0.378																																						uc003jjo.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(5182-5184)TTC>TTT		KPL2 protein isoform 1							74.0	70.0	71.0					5																	35806982		1860	4097	5957	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35806982C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5184C>T	5.37:g.35806982C>T						SPEF2_uc003jjp.1_Silent_p.F1214F|SPEF2_uc003jjr.2_Silent_p.F783F	p.F1728F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		35	5295	+	all_lung(31;7.56e-05)		1728					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.5184C>T	CCDS43309.1																																																																																				PASS	0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		15	32	15	32	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37125368	37125368	+	Missense_Mutation	SNP	G	G	A	rs113008648		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:37125368G>A	ENST00000508244.1	-	45	8867	c.8774C>T	c.(8773-8775)cCt>cTt	p.P2925L	C5orf42_ENST00000274258.7_Missense_Mutation_p.P1823L|C5orf42_ENST00000512288.1_Intron|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2925L			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2925						integral component of membrane (GO:0016021)		p.P1823L(1)|p.P2925L(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGGACAGAAAGGATCATGTTC	0.373																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(8773-8775)CCT>CTT		hypothetical protein LOC65250							262.0	234.0	244.0					5																	37125368		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37125368G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8774C>T	5.37:g.37125368G>A	ENSP00000421690:p.Pro2925Leu					C5orf42_uc003jkp.1_Intron|C5orf42_uc011coy.1_Missense_Mutation_p.P1443L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P2018L	p.P2925L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		46	9005	-	all_lung(31;0.000616)		2925					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.8774C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906233	0.92107	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.78801	2.425	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	T	0.75431	-0.3320	10	0.87932	D	0	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	2925;1823	E9PH94;Q9H799	.;CE042_HUMAN	L	2925;2925;1823;1991	ENSP00000421690:P2925L;ENSP00000389014:P2925L;ENSP00000274258:P1823L;ENSP00000424223:P1991L	ENSP00000274258:P1823L	P	-	2	0	C5orf42	37161125	1.000000	0.71417	0.981000	0.43875	0.784000	0.44337	4.746000	0.62133	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		24	80	24	80	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38881757	38881757	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:38881757C>T	ENST00000274276.3	+	4	711	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OSMR_ENST00000502536.1_Silent_p.L103L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	103					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.L103L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AATCTGAGCTCCCTTTGGAAT	0.473																																						uc003jln.1																			2	Substitution - coding silent(2)		lung(1)|breast(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(307-309)CTC>CTT		oncostatin M receptor precursor							116.0	110.0	112.0					5																	38881757		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881757C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.309C>T	5.37:g.38881757C>T						OSMR_uc003jlm.1_Silent_p.L103L	p.L103L	NM_003999	NP_003990	Q99650	OSMR_HUMAN			4	676	+	all_lung(31;0.000365)		103			Extracellular (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.309C>T	CCDS3928.1																																																																																				PASS	0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		17	33	17	33	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38933461	38933461	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:38933461C>T	ENST00000274276.3	+	18	3257	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	952					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.S952F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGGCAGTCTCCCTGCGTCTT	0.507																																						uc003jln.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2854-2856)TCC>TTC		oncostatin M receptor precursor							128.0	131.0	130.0					5																	38933461		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38933461C>T	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2855C>T	5.37:g.38933461C>T	ENSP00000274276:p.Ser952Phe					OSMR_uc011cpj.1_Missense_Mutation_p.S156F	p.S952F	NM_003999	NP_003990	Q99650	OSMR_HUMAN			18	3222	+	all_lung(31;0.000365)		952			Cytoplasmic (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2855C>T	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513473	0.44660	.	.	ENSG00000145623	ENST00000274276	T	0.43294	0.95	5.79	4.92	0.64577	.	0.253056	0.28577	N	0.014855	T	0.24890	0.0604	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.31614	0.133	T	0.23226	-1.0194	10	0.87932	D	0	.	9.7866	0.40679	0.0:0.9093:0.0:0.0907	.	952	Q99650	OSMR_HUMAN	F	952	ENSP00000274276:S952F	ENSP00000274276:S952F	S	+	2	0	OSMR	38969218	0.006000	0.16342	0.036000	0.18154	0.024000	0.10985	1.964000	0.40462	2.722000	0.93159	0.655000	0.94253	TCC		PASS	0.507	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		23	57	23	57	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202038	39202038	+	Missense_Mutation	SNP	G	G	A	rs374928648		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:39202038G>A	ENST00000351578.6	-	2	1215	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	FYB_ENST00000512982.1_Missense_Mutation_p.P342L|FYB_ENST00000515010.1_Missense_Mutation_p.P342L|FYB_ENST00000540520.1_Missense_Mutation_p.P352L|FYB_ENST00000505428.1_Missense_Mutation_p.P342L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.P342L(3)|p.P352L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CTTCTGTTTCGGGGTGGCTGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0					uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1024-1026)CCG>CTG		FYN binding protein (FYB-120/130) isoform 2		G	LEU/PRO,LEU/PRO	1,3851		0,1,1925	138.0	141.0	140.0		1025,1025	5.1	0.2	5		140	2,8240		0,2,4119	no	missense,missense	FYB	NM_001465.4,NM_199335.3	98,98	0,3,6044	AA,AG,GG		0.0243,0.026,0.0248	probably-damaging,probably-damaging	342/830,342/784	39202038	3,12091	1926	4121	6047	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202038G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1025C>T	5.37:g.39202038G>A	ENSP00000316460:p.Pro342Leu					FYB_uc003jlt.2_Missense_Mutation_p.P342L|FYB_uc003jlu.2_Missense_Mutation_p.P342L|FYB_uc011cpl.1_Missense_Mutation_p.P352L	p.P342L	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1092	-	all_lung(31;0.000343)		342					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1025C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599424	0.46318	2.6E-4	2.43E-4	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.56103	0.5;0.5;0.48;0.48;0.5	5.93	5.07	0.68467	.	0.178499	0.49305	N	0.000155	T	0.72326	0.3446	M	0.73598	2.24	0.80722	D	1	D;P	0.89917	1.0;0.901	D;B	0.87578	0.998;0.15	T	0.76545	-0.2920	10	0.87932	D	0	-12.6532	15.0844	0.72138	0.0674:0.0:0.9326:0.0	.	352;342	B4DLN2;O15117	.;FYB_HUMAN	L	342;342;342;342;352;342	ENSP00000316460:P342L;ENSP00000426346:P342L;ENSP00000425845:P342L;ENSP00000427114:P342L;ENSP00000442840:P352L	ENSP00000316460:P342L	P	-	2	0	FYB	39237795	1.000000	0.71417	0.248000	0.24265	0.108000	0.19459	6.778000	0.75043	1.536000	0.49237	0.655000	0.94253	CCG		PASS	0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		12	39	12	39	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39202362	39202362	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:39202362T>A	ENST00000351578.6	-	2	891	c.701A>T	c.(700-702)aAa>aTa	p.K234I	FYB_ENST00000512982.1_Missense_Mutation_p.K234I|FYB_ENST00000515010.1_Missense_Mutation_p.K234I|FYB_ENST00000540520.1_Missense_Mutation_p.K244I|FYB_ENST00000505428.1_Missense_Mutation_p.K234I	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	234					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.K234I(3)|p.K244I(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AGGGCCGCTTTTGGACCTGAC	0.502																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(700-702)AAA>ATA		FYN binding protein (FYB-120/130) isoform 2							80.0	81.0	81.0					5																	39202362		1836	4083	5919	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202362T>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.701A>T	5.37:g.39202362T>A	ENSP00000316460:p.Lys234Ile					FYB_uc003jlt.2_Missense_Mutation_p.K234I|FYB_uc003jlu.2_Missense_Mutation_p.K234I|FYB_uc011cpl.1_Missense_Mutation_p.K244I	p.K234I	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	768	-	all_lung(31;0.000343)		234					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.701A>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	9.571	1.121148	0.20877	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.41	6.07	3.64	0.41730	.	0.573156	0.17634	N	0.167290	T	0.46889	0.1416	L	0.60455	1.87	0.24203	N	0.995504	D;D	0.60160	0.987;0.981	P;P	0.55871	0.786;0.77	T	0.33163	-0.9879	10	0.62326	D	0.03	-14.7019	9.4561	0.38756	0.0:0.1391:0.0:0.8609	.	244;234	B4DLN2;O15117	.;FYB_HUMAN	I	234;234;234;234;244;234	ENSP00000316460:K234I;ENSP00000426346:K234I;ENSP00000425845:K234I;ENSP00000427114:K234I;ENSP00000442840:K244I	ENSP00000316460:K234I	K	-	2	0	FYB	39238119	0.283000	0.24277	0.017000	0.16124	0.343000	0.28985	0.394000	0.20834	0.513000	0.28278	0.533000	0.62120	AAA		PASS	0.502	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		31	79	31	79	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004483	41004483	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:41004483C>T	ENST00000399564.4	-	37	4609	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E942K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1387								p.E1387*(1)|p.E1387K(1)									AGCACTATTTCCTTGAAGTAG	0.458																																						uc003jmj.3																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(6)|central_nervous_system(2)	8						c.(4159-4161)GAA>AAA		HEAT repeat family member 7B2							152.0	143.0	146.0					5																	41004483		1912	4125	6037	SO:0001583	missense	133558						binding	g.chr5:41004483C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4159G>A	5.37:g.41004483C>T	ENSP00000382476:p.Glu1387Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.E942K	p.E1387K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			37	4649	-			1387			HEAT 15.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4159G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041960	0.75732	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65916	-0.18;-0.18	5.85	5.85	0.93711	Armadillo-like helical (1);Armadillo-type fold (1);	0.091277	0.47455	N	0.000221	T	0.66528	0.2798	L	0.54323	1.7	0.38477	D	0.947614	P	0.44241	0.829	P	0.51615	0.675	T	0.61277	-0.7095	10	0.11794	T	0.64	.	15.6775	0.77338	0.0:1.0:0.0:0.0	.	1387	Q7Z745	HTRB2_HUMAN	K	942;1092;1387	ENSP00000441504:E942K;ENSP00000382476:E1387K	ENSP00000296803:E1092K	E	-	1	0	HEATR7B2	41040240	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.837000	0.55820	2.776000	0.95493	0.643000	0.83706	GAA		PASS	0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		34	84	34	84	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41009458	41009458	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:41009458C>T	ENST00000399564.4	-	32	3794	c.3344G>A	c.(3343-3345)gGg>gAg	p.G1115E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G670E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1115								p.G1115E(1)									CAAGAGTTTCCCACTGGAGGC	0.507																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3343-3345)GGG>GAG		HEAT repeat family member 7B2							124.0	123.0	124.0					5																	41009458		1878	4112	5990	SO:0001583	missense	133558						binding	g.chr5:41009458C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3344G>A	5.37:g.41009458C>T	ENSP00000382476:p.Gly1115Glu					HEATR7B2_uc003jmi.3_Missense_Mutation_p.G670E	p.G1115E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3834	-			1115			HEAT 12.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3344G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956586	0.02267	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05513	3.43;3.43	6.17	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.611651	0.16567	N	0.208790	T	0.05823	0.0152	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.29640	-1.0005	10	0.30854	T	0.27	.	3.9913	0.09538	0.149:0.5465:0.2189:0.0855	.	1115	Q7Z745	HTRB2_HUMAN	E	670;820;1115	ENSP00000441504:G670E;ENSP00000382476:G1115E	ENSP00000296803:G820E	G	-	2	0	HEATR7B2	41045215	0.000000	0.05858	0.393000	0.26258	0.065000	0.16274	0.033000	0.13754	1.636000	0.50526	-0.136000	0.14681	GGG		PASS	0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		12	60	12	60	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41032873	41032873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:41032873C>T	ENST00000399564.4	-	24	2862	c.2412G>A	c.(2410-2412)tgG>tgA	p.W804*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.W359*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	804								p.W804*(1)									TTAAGGCTTTCCACCGAATAG	0.388																																						uc003jmj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2410-2412)TGG>TGA		HEAT repeat family member 7B2							68.0	64.0	65.0					5																	41032873		1841	4090	5931	SO:0001587	stop_gained	133558						binding	g.chr5:41032873C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2412G>A	5.37:g.41032873C>T	ENSP00000382476:p.Trp804*					HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W359*	p.W804*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			24	2902	-			804			HEAT 9.		Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.2412G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	40	8.080468	0.98643	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.79	4.92	0.64577	.	0.261378	0.28001	N	0.016981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	10.9183	0.47150	0.0:0.9136:0.0:0.0864	.	.	.	.	X	359;509;804	.	ENSP00000296803:W509X	W	-	3	0	HEATR7B2	41068630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.404000	0.44539	1.451000	0.47736	0.655000	0.94253	TGG		PASS	0.388	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		11	20	11	20	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41057416	41057416	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:41057416A>G	ENST00000399564.4	-	8	1253	c.803T>C	c.(802-804)cTt>cCt	p.L268P	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	268								p.L268P(1)									GCTCCTTGGAAGGCCAATGTC	0.438																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(802-804)CTT>CCT		HEAT repeat family member 7B2							57.0	53.0	54.0					5																	41057416		1853	4113	5966	SO:0001583	missense	133558						binding	g.chr5:41057416A>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.803T>C	5.37:g.41057416A>G	ENSP00000382476:p.Leu268Pro					HEATR7B2_uc003jmi.3_Intron	p.L268P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			8	1293	-			268					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.803T>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270064	0.40194	.	.	ENSG00000171495	ENST00000399564	T	0.07216	3.21	5.21	5.21	0.72293	Armadillo-type fold (1);	0.126462	0.36628	N	0.002494	T	0.20373	0.0490	L	0.50333	1.59	0.54753	D	0.999988	D	0.76494	0.999	D	0.70016	0.967	T	0.00451	-1.1731	10	0.36615	T	0.2	.	11.6541	0.51306	1.0:0.0:0.0:0.0	.	268	Q7Z745	HTRB2_HUMAN	P	268	ENSP00000382476:L268P	ENSP00000382476:L268P	L	-	2	0	HEATR7B2	41093173	1.000000	0.71417	0.966000	0.40874	0.042000	0.13812	3.896000	0.56266	2.317000	0.78254	0.459000	0.35465	CTT		PASS	0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		9	14	9	14	---	---	---	---
C6	729	broad.mit.edu	37	5	41149419	41149419	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:41149419C>T	ENST00000263413.3	-	17	2811	c.2547G>A	c.(2545-2547)agG>agA	p.R849R	C6_ENST00000337836.5_Silent_p.R849R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	849	C5b-binding domain.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R849R(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGTCTTGTCCTTTCAAGAC	0.418																																						uc003jmk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(2545-2547)AGG>AGA		complement component 6 precursor							188.0	179.0	182.0					5																	41149419		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149419C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2547G>A	5.37:g.41149419C>T						C6_uc003jml.1_Silent_p.R849R	p.R849R	NM_000065	NP_000056	P13671	CO6_HUMAN			17	2757	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	849			C5b-binding domain.			Silent	SNP	ENST00000263413.3	37	c.2547G>A	CCDS3936.1																																																																																				PASS	0.418	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			39	81	39	81	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43650627	43650627	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:43650627C>T	ENST00000264663.5	+	12	1876	c.1655C>T	c.(1654-1656)cCt>cTt	p.P552L	NNT_ENST00000344920.4_Missense_Mutation_p.P552L|NNT_ENST00000512996.2_Missense_Mutation_p.P421L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	552					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.P552L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATTTGTATCCTTCCACAACT	0.438																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1654-1656)CCT>CTT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						242.0	212.0	222.0					5																	43650627		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43650627C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1655C>T	5.37:g.43650627C>T	ENSP00000264663:p.Pro552Leu					NNT_uc003jof.2_Missense_Mutation_p.P552L	p.P552L	NM_012343	NP_036475	Q13423	NNTM_HUMAN			12	1910	+	Lung NSC(6;2.58e-06)		552					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1655C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597589	0.87055	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T	0.76448	-1.02;-1.02;-1.02	5.43	4.55	0.56014	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88548	0.6466	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90269	0.4306	10	0.87932	D	0	-16.8898	15.2124	0.73235	0.1421:0.8579:0.0:0.0	.	552	Q13423	NNTM_HUMAN	L	67;552;552;421	ENSP00000264663:P552L;ENSP00000343873:P552L;ENSP00000426343:P421L	ENSP00000264663:P552L	P	+	2	0	NNT	43686384	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	5.546000	0.67243	1.254000	0.44035	0.650000	0.86243	CCT		PASS	0.438	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		10	28	10	28	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44310604	44310604	+	Silent	SNP	G	G	A	rs201385181		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:44310604G>A	ENST00000264664.4	-	2	468	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	118					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.I118I(2)		haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CAACAACTCCGATTTCTACTG	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		19081	0.0		0.001	False		,,,				2504	0.0					uc003jog.1																			2	Substitution - coding silent(2)		lung(1)|skin(1)	lung(3)	3						c.(352-354)ATC>ATT		fibroblast growth factor 10 precursor							112.0	98.0	103.0					5																	44310604		2203	4300	6503	SO:0001819	synonymous_variant	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44310604G>A		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.354C>T	5.37:g.44310604G>A							p.I118I	NM_004465	NP_004456	O15520	FGF10_HUMAN			2	354	-	Lung NSC(6;1.12e-06)		118					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.354C>T	CCDS3950.1																																																																																				PASS	0.333	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	13	7	13	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267354	45267354	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:45267354C>T	ENST00000303230.4	-	7	1677	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	540					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E540E(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCAGGCAAATCTCTATAAAAA	0.398																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1618-1620)GAG>GAA		hyperpolarization activated cyclic							83.0	79.0	80.0					5																	45267354		2203	4300	6503	SO:0001630	splice_region_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267354C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1619-1G>A	5.37:g.45267354C>T							p.E540E	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1645	-			540			cAMP.|Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1620G>A	CCDS3952.1																																																																																				PASS	0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	Silent	26	30	26	30	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353276	45353276	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:45353276A>G	ENST00000303230.4	-	5	1360	c.1303T>C	c.(1303-1305)Tat>Cat	p.Y435H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	435					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Y435H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGTGTTCATAGTAATCATGT	0.343																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1303-1305)TAT>CAT		hyperpolarization activated cyclic							154.0	141.0	145.0					5																	45353276		2203	4297	6500	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353276A>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1303T>C	5.37:g.45353276A>G	ENSP00000307342:p.Tyr435His						p.Y435H	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1328	-			435			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1303T>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609524	0.87258	.	.	ENSG00000164588	ENST00000303230	D	0.96856	-4.15	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.97573	0.9205	M	0.90650	3.135	0.80722	D	1	P	0.38745	0.645	P	0.46208	0.507	D	0.98186	1.0460	10	0.87932	D	0	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	435	O60741	HCN1_HUMAN	H	435	ENSP00000307342:Y435H	ENSP00000307342:Y435H	Y	-	1	0	HCN1	45389033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.332000	0.96446	2.281000	0.76405	0.533000	0.62120	TAT		PASS	0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	22	9	22	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53815435	53815435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:53815435G>A	ENST00000326277.3	+	1	1843	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Nonsense_Mutation_p.W551*	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	551	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.W551*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGTGATATGGAGTGTATTGT	0.512																																						uc003jpj.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1651-1653)TGG>TGA		sorting nexin 18 isoform b							130.0	116.0	121.0					5																	53815435		2203	4300	6503	SO:0001587	stop_gained	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53815435G>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1653G>A	5.37:g.53815435G>A	ENSP00000317332:p.Trp551*					SNX18_uc011cqg.1_Nonsense_Mutation_p.W551*|SNX18_uc003jpi.3_Intron	p.W551*	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN			1	1843	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	551			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Nonsense_Mutation	SNP	ENST00000326277.3	37	c.1653G>A	CCDS3962.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574506	0.86542	.	.	ENSG00000178996	ENST00000343017;ENST00000326277	.	.	.	3.22	-2.43	0.06522	.	0.125415	0.51477	U	0.000085	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.3539	0.9643	0.01402	0.2335:0.3326:0.2649:0.1691	.	.	.	.	X	551	.	ENSP00000317332:W551X	W	+	3	0	SNX18	53851192	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-0.595000	0.05828	0.561000	0.74099	TGG		PASS	0.512	SNX18-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214072.2			12	52	12	52	---	---	---	---
CDC20B	166979	broad.mit.edu	37	5	54415739	54415739	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:54415739G>A	ENST00000381375.2	-	11	1494	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Missense_Mutation_p.S450F|CDC20B_ENST00000322374.6_Missense_Mutation_p.S408F			Q86Y33	CD20B_HUMAN	cell division cycle 20B	450								p.S450F(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCAGATTAAGGAACAAATCTG	0.403																																						uc003jpo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)TCC>TTC		CDC20 cell division cycle 20 homolog B isoform							118.0	116.0	117.0					5																	54415739		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54415739G>A	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1349C>T	5.37:g.54415739G>A	ENSP00000370781:p.Ser450Phe					CDC20B_uc003jpn.1_Missense_Mutation_p.S450F|CDC20B_uc010ivu.1_Missense_Mutation_p.S408F	p.S450F	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		11	1524	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	450			WD 6.		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1349C>T	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088064	0.76642	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.35605	1.34;1.34;1.3	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.53938	D	0.000044	T	0.68970	0.3059	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.77437	-0.2588	10	0.87932	D	0	-36.3453	16.1757	0.81847	0.0:0.0:1.0:0.0	.	408;450;450	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	F	450;450;408	ENSP00000296733:S450F;ENSP00000370781:S450F;ENSP00000315720:S408F	ENSP00000296733:S450F	S	-	2	0	CDC20B	54451496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.133000	0.57983	2.586000	0.87340	0.655000	0.94253	TCC		PASS	0.403	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		12	48	12	48	---	---	---	---
SLC38A9	153129	broad.mit.edu	37	5	54929713	54929713	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:54929713G>A	ENST00000396865.2	-	14	1890	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	SLC38A9_ENST00000416547.2_Silent_p.F309F|SLC38A9_ENST00000512595.1_Silent_p.F370F|SLC38A9_ENST00000515629.1_Silent_p.F370F|SLC38A9_ENST00000318672.3_Silent_p.F433F|SLC38A9_ENST00000539768.1_3'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	433					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.F433F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CACTGCTAGGGAAGTTGTCTA	0.388																																						uc003jqf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1297-1299)TTC>TTT		solute carrier family 38, member 9							93.0	84.0	87.0					5																	54929713		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929713G>A		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1299C>T	5.37:g.54929713G>A						SLC38A9_uc003jqd.2_Silent_p.F370F|SLC38A9_uc010ivx.2_Silent_p.F370F|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Silent_p.F304F	p.F433F	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			14	1500	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	433					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1299C>T	CCDS3968.1																																																																																				PASS	0.388	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		16	16	16	16	---	---	---	---
GAPT	202309	broad.mit.edu	37	5	57790524	57790524	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:57790524G>A	ENST00000396776.2	+	3	623	c.161G>A	c.(160-162)aGa>aAa	p.R54K	GAPT_ENST00000318469.2_Missense_Mutation_p.R54K	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	54					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R54K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGCAGCAGGAGAAAAGTCTGT	0.458																																						uc003jro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)AGA>AAA		GRB2-binding adaptor protein, transmembrane							61.0	63.0	62.0					5																	57790524		2203	4300	6503	SO:0001583	missense	202309				B cell activation	integral to membrane|plasma membrane		g.chr5:57790524G>A	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.161G>A	5.37:g.57790524G>A	ENSP00000379997:p.Arg54Lys						p.R54K	NM_152687	NP_689900	Q8N292	GAPT_HUMAN			3	555	+			54						Missense_Mutation	SNP	ENST00000396776.2	37	c.161G>A	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	8.605	0.887715	0.17540	.	.	ENSG00000175857	ENST00000502276;ENST00000396776;ENST00000511930;ENST00000318469	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	4.96	-9.27	0.00659	.	1.478900	0.03908	N	0.281417	T	0.22742	0.0549	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42361	-0.9456	10	0.11485	T	0.65	-3.1567	20.5915	0.99427	0.8862:0.0:0.1138:0.0	.	54	Q8N292	GAPT_HUMAN	K	54	ENSP00000423113:R54K;ENSP00000379997:R54K;ENSP00000422645:R54K;ENSP00000323075:R54K	ENSP00000323075:R54K	R	+	2	0	GAPT	57826281	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.991000	0.03728	-2.334000	0.00630	-0.469000	0.05056	AGA		PASS	0.458	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687		13	23	13	23	---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	58270781	58270781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:58270781G>A	ENST00000340635.6	-	15	2315	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*	PDE4D_ENST00000503258.1_Nonsense_Mutation_p.Q584*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.Q412*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.Q653*|PDE4D_ENST00000317118.8_Nonsense_Mutation_p.Q423*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.Q592*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.Q650*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.Q653*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.Q578*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	714					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q578*(2)|p.Q653*(1)|p.Q584*(1)|p.Q714*(1)|p.Q650*(1)|p.Q592*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGGGGCTCTGAGGGATTGTG	0.537																																						uc003jsa.2																			7	Substitution - Nonsense(7)		lung(7)	breast(1)|central_nervous_system(1)	2						c.(2140-2142)CAG>TAG		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						82.0	83.0	83.0					5																	58270781		1992	4188	6180	SO:0001587	stop_gained	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58270781G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2140C>T	5.37:g.58270781G>A	ENSP00000345502:p.Gln714*					PDE4D_uc003jrx.2_Nonsense_Mutation_p.Q578*|PDE4D_uc003jry.2_Nonsense_Mutation_p.Q412*|PDE4D_uc003jrz.2_Nonsense_Mutation_p.Q650*|PDE4D_uc003jsb.2_Nonsense_Mutation_p.Q653*|PDE4D_uc003jrt.2_Nonsense_Mutation_p.Q412*|PDE4D_uc003jru.2_Nonsense_Mutation_p.Q490*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.Q584*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.Q592*|PDE4D_uc003jrs.2_Nonsense_Mutation_p.Q423*	p.Q714*	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	15	2312	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	714					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.2140C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519750	0.85495	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	.	.	.	5.22	5.22	0.72569	.	0.238170	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.3484	0.74363	0.0:0.0:0.8602:0.1398	.	.	.	.	X	714;583;578;650;412;423;584;592;653;653;412	.	ENSP00000321739:Q423X	Q	-	1	0	PDE4D	58306538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.423000	0.73361	2.728000	0.93425	0.655000	0.94253	CAG		PASS	0.537	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			22	32	22	32	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61783631	61783631	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:61783631C>T	ENST00000325324.6	+	13	1421	c.1252C>T	c.(1252-1254)Cat>Tat	p.H418Y	IPO11_ENST00000409296.3_Missense_Mutation_p.H458Y|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	418					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.H418Y(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATATATTCCATGAATATAA	0.299																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(1252-1254)CAT>TAT		Ran binding protein 11 isoform 2							73.0	78.0	76.0					5																	61783631		2203	4290	6493	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61783631C>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1252C>T	5.37:g.61783631C>T	ENSP00000316651:p.His418Tyr					IPO11_uc011cqr.1_Missense_Mutation_p.H458Y|IPO11_uc003jtb.1_Missense_Mutation_p.H418Y	p.H418Y	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	13	1442	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	418					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1252C>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429704	0.83776	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.41400	1.0;1.0	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64159	0.2573	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.996	D;P	0.66196	0.942;0.878	T	0.67810	-0.5574	10	0.66056	D	0.02	.	18.6513	0.91431	0.0:1.0:0.0:0.0	.	458;418	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	Y	418;458	ENSP00000316651:H418Y;ENSP00000386992:H458Y	ENSP00000316651:H418Y	H	+	1	0	IPO11	61819388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.809000	0.75211	2.380000	0.81148	0.655000	0.94253	CAT		PASS	0.299	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		7	29	7	29	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257364	63257364	+	Silent	SNP	G	G	A	rs375977137		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:63257364G>A	ENST00000323865.3	-	1	416	c.183C>T	c.(181-183)atC>atT	p.I61I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	61					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.I61I(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCTCCAAGGCGATGGCAGCCA	0.617																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(181-183)ATC>ATT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						66.0	69.0	68.0					5																	63257364		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257364G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.183C>T	5.37:g.63257364G>A							p.I61I	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	183	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	61			Helical; Name=1; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.183C>T	CCDS34168.1																																																																																				PASS	0.617	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		12	12	12	12	---	---	---	---
RGS7BP	401190	broad.mit.edu	37	5	63905037	63905037	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:63905037G>A	ENST00000334025.2	+	6	1058	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	244					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R244R(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TGAGAAGACGGAAGAGAAGGT	0.473																																						uc003jtj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)CGG>CGA		regulator of G-protein signaling 7 binding							170.0	151.0	158.0					5																	63905037		2203	4300	6503	SO:0001819	synonymous_variant	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63905037G>A	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.732G>A	5.37:g.63905037G>A						RGS7BP_uc011cqu.1_Silent_p.R111R	p.R244R	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	6	732	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	244			Nuclear localization signal (By similarity).		B7Z3X1	Silent	SNP	ENST00000334025.2	37	c.732G>A	CCDS34170.1																																																																																				PASS	0.473	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		19	29	19	29	---	---	---	---
CWC27	10283	broad.mit.edu	37	5	64082381	64082381	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:64082381C>T	ENST00000381070.3	+	6	743	c.526C>T	c.(526-528)Cca>Tca	p.P176S	CWC27_ENST00000508024.1_Missense_Mutation_p.P176S	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	176					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P176S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGACATCATTCCAAGGGAAAT	0.308																																						uc003jtn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CCA>TCA		serologically defined colon cancer antigen 10							70.0	71.0	71.0					5																	64082381		2203	4298	6501	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64082381C>T	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.526C>T	5.37:g.64082381C>T	ENSP00000370460:p.Pro176Ser					CWC27_uc003jtl.2_Missense_Mutation_p.P176S|CWC27_uc003jtm.2_Missense_Mutation_p.P176S|CWC27_uc010iwt.1_Missense_Mutation_p.P176S	p.P176S	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			6	745	+			176					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.526C>T	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514600	0.85389	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.42900	0.96;0.96	5.04	5.04	0.67666	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.991;0.992;0.991;0.985	T	0.73228	-0.4049	10	0.66056	D	0.02	.	18.567	0.91120	0.0:1.0:0.0:0.0	.	176;176;176;176	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	S	176	ENSP00000370460:P176S;ENSP00000426802:P176S	ENSP00000370460:P176S	P	+	1	0	CWC27	64118137	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.759000	0.74934	2.622000	0.88805	0.591000	0.81541	CCA		PASS	0.308	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		11	12	11	12	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64769451	64769451	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:64769451G>A	ENST00000536360.1	-	2	863	c.50C>T	c.(49-51)gCt>gTt	p.A17V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	17						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A17V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTCCGATGAAGCCATGATGAG	0.368																																						uc003jtp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GCT>GTT		ADAM metallopeptidase with thrombospondin type 1							136.0	147.0	143.0					5																	64769451		2203	4300	6503	SO:0001583	missense	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64769451G>A	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.50C>T	5.37:g.64769451G>A	ENSP00000440995:p.Ala17Val					ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR	p.A17V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	2	864	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	17					Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37	c.50C>T		.	.	.	.	.	.	.	.	.	.	G	14.64	2.594929	0.46318	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.58940	0.31;0.43;0.3	5.28	4.37	0.52481	.	0.246048	0.41396	N	0.000883	T	0.36608	0.0973	N	0.19112	0.55	0.44694	D	0.997683	B	0.02656	0.0	B	0.04013	0.001	T	0.14254	-1.0479	10	0.23302	T	0.38	.	6.2127	0.20638	0.2947:0.0:0.7053:0.0	.	17	Q9UKP5	ATS6_HUMAN	V	17	ENSP00000370443:A17V;ENSP00000423551:A17V;ENSP00000440995:A17V	ENSP00000261306:A17V	A	-	2	0	ADAMTS6	64805207	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.988000	0.63863	1.264000	0.44198	0.650000	0.86243	GCT		PASS	0.368	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		39	107	39	107	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66396421	66396421	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:66396421G>A	ENST00000403625.2	+	8	1365		c.e8+1		MAST4_ENST00000261569.7_Splice_Site|MAST4_ENST00000490016.2_Splice_Site|MAST4_ENST00000403666.1_Splice_Site|MAST4_ENST00000404260.3_Splice_Site|MAST4_ENST00000405643.1_Splice_Site	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAAGTCTGAGGTGTGTGGGCC	0.453																																						uc003jut.1																			1	Unknown(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.e7+1		microtubule associated serine/threonine kinase							66.0	68.0	68.0					5																	66396421		2045	4181	6226	SO:0001630	splice_region_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66396421G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1070+1G>A	5.37:g.66396421G>A						MAST4_uc003jus.2_Splice_Site_p.S168_splice|MAST4_uc003juu.1_Splice_Site_p.S178_splice|MAST4_uc011cra.1_Splice_Site_p.S151_splice|MAST4_uc010ixa.2_Splice_Site|MAST4_uc003juv.2_Splice_Site_p.S163_splice|MAST4_uc003juw.2_Splice_Site_p.S163_splice	p.S168_splice	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	7	571	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)						A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Splice_Site	SNP	ENST00000403625.2	37	c.503_splice	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967468	0.92855	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST4	66432177	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.476000	0.97823	2.873000	0.98535	0.561000	0.74099	.		PASS	0.453	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		Intron	12	26	12	26	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66462794	66462794	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:66462794C>T	ENST00000403625.2	+	29	8082	c.7787C>T	c.(7786-7788)tCt>tTt	p.S2596F	MAST4_ENST00000261569.7_Missense_Mutation_p.S2402F|MAST4_ENST00000403666.1_Missense_Mutation_p.S2407F|MAST4_ENST00000404260.3_Missense_Mutation_p.S2599F|MAST4_ENST00000405643.1_Missense_Mutation_p.S2417F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2599						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S2599F(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGCCCCATCTCTCTTTCTAAT	0.597																																						uc003jut.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(7219-7221)TCT>TTT		microtubule associated serine/threonine kinase							17.0	20.0	19.0					5																	66462794		1930	4117	6047	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462794C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7787C>T	5.37:g.66462794C>T	ENSP00000385727:p.Ser2596Phe					MAST4_uc003juw.2_Missense_Mutation_p.S2335F|MAST4_uc003jux.2_Missense_Mutation_p.S160F	p.S2407F	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	7288	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2599					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7220C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855502	0.32791	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.66099	-0.17;-0.17;-0.19;-0.19;-0.17	5.06	3.29	0.37713	.	1.724690	0.03105	N	0.161735	T	0.51244	0.1663	N	0.14661	0.345	0.23396	N	0.997765	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.46190	-0.9209	10	0.87932	D	0	-1.8677	12.2158	0.54406	0.0:0.8542:0.0:0.1458	.	2599;2407	O15021;O15021-3	MAST4_HUMAN;.	F	2599;2596;2407;2417;2417;2402	ENSP00000385048:S2599F;ENSP00000385727:S2596F;ENSP00000384313:S2407F;ENSP00000384099:S2417F;ENSP00000261569:S2402F	ENSP00000261569:S2402F	S	+	2	0	MAST4	66498550	0.650000	0.27331	0.638000	0.29380	0.242000	0.25591	3.709000	0.54853	1.507000	0.48752	0.561000	0.74099	TCT		PASS	0.597	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	13	6	13	---	---	---	---
CENPH	64946	broad.mit.edu	37	5	68498782	68498782	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:68498782A>G	ENST00000283006.2	+	7	559	c.472A>G	c.(472-474)Aga>Gga	p.R158G	CENPH_ENST00000515001.1_Missense_Mutation_p.R139G	NM_022909.3	NP_075060.1			centromere protein H									p.R158G(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		GCTTGATATTAGAAAGAAGAG	0.313																																						uc003jvp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(472-474)AGA>GGA		centromere protein H							122.0	128.0	126.0					5																	68498782		2203	4300	6503	SO:0001583	missense	64946				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	g.chr5:68498782A>G	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.472A>G	5.37:g.68498782A>G	ENSP00000283006:p.Arg158Gly					CENPH_uc010ixc.2_Missense_Mutation_p.R139G	p.R158G	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)	7	559	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	158			Potential.			Missense_Mutation	SNP	ENST00000283006.2	37	c.472A>G	CCDS3998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.83|19.83	3.900605|3.900605	0.72754|0.72754	.|.	.|.	ENSG00000153044|ENSG00000153044	ENST00000283006;ENST00000515001|ENST00000502689	.|.	.|.	.|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.242965|.	0.35262|.	N|.	0.003328|.	T|.	0.57975|.	0.2090|.	L|L	0.59436|0.59436	1.845|1.845	0.34290|0.34290	D|D	0.683145|0.683145	D;D|.	0.71674|.	0.984;0.998|.	P;D|.	0.66847|.	0.883;0.947|.	T|.	0.67991|.	-0.5527|.	9|.	0.66056|.	D|.	0.02|.	-21.0455|-21.0455	10.8735|10.8735	0.46899|0.46899	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	139;158|.	B3KVZ3;Q9H3R5|.	.;CENPH_HUMAN|.	G|W	158;139|97	.|.	ENSP00000283006:R158G|.	R|X	+|+	1|2	2|0	CENPH|CENPH	68534538|68534538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.050000|4.050000	0.57404|0.57404	2.133000|2.133000	0.65898|0.65898	0.460000|0.460000	0.39030|0.39030	AGA|TAG		PASS	0.313	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1			3	16	3	16	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71494703	71494703	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:71494703A>T	ENST00000296755.7	+	5	5819	c.5521A>T	c.(5521-5523)Atg>Ttg	p.M1841L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1841					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.M1841L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATTCGATACAATGCAACACCA	0.483																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5521-5523)ATG>TTG		microtubule-associated protein 1B							93.0	89.0	90.0					5																	71494703		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494703A>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5521A>T	5.37:g.71494703A>T	ENSP00000296755:p.Met1841Leu					MAP1B_uc010iyw.1_Missense_Mutation_p.M1858L|MAP1B_uc010iyx.1_Missense_Mutation_p.M1715L|MAP1B_uc010iyy.1_Missense_Mutation_p.M1715L	p.M1841L	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5762	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1841					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5521A>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.441399	0.01098	.	.	ENSG00000131711	ENST00000296755	T	0.02737	4.18	5.12	3.94	0.45596	.	0.164458	0.44285	D	0.000475	T	0.01695	0.0054	N	0.08118	0	0.24168	N	0.99563	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46484	-0.9188	10	0.35671	T	0.21	-15.2508	6.4476	0.21885	0.7067:0.2065:0.0868:0.0	.	1715;1841	A2BDK6;P46821	.;MAP1B_HUMAN	L	1841	ENSP00000296755:M1841L	ENSP00000296755:M1841L	M	+	1	0	MAP1B	71530459	0.597000	0.26874	0.888000	0.34837	0.367000	0.29736	1.568000	0.36418	0.899000	0.36444	0.450000	0.29827	ATG		PASS	0.483	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	38	9	38	---	---	---	---
ARHGEF28	64283	broad.mit.edu	37	5	73069772	73069772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:73069772C>T	ENST00000426542.2	+	4	588	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.Q190*|ARHGEF28_ENST00000545377.1_Nonsense_Mutation_p.Q190*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.Q190*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.Q190*|ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.Q190*			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	190					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.Q190*(2)									GGGGGGAGTCCAGGCCTTGGC	0.502																																						uc011csq.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(568-570)CAG>TAG		Rho-guanine nucleotide exchange factor							48.0	44.0	45.0					5																	73069772		1864	4106	5970	SO:0001587	stop_gained	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73069772C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.568C>T	5.37:g.73069772C>T	ENSP00000412175:p.Gln190*					RGNEF_uc003kcx.2_Nonsense_Mutation_p.Q190*|RGNEF_uc003kcy.1_Nonsense_Mutation_p.Q190*|RGNEF_uc010izf.2_Nonsense_Mutation_p.Q190*	p.Q190*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	4	579	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	190					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Nonsense_Mutation	SNP	ENST00000426542.2	37	c.568C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	36	5.759777	0.96898	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	.	.	.	5.88	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7046	0.08395	0.1645:0.4677:0.2806:0.0872	.	.	.	.	X	190	.	ENSP00000287898:Q190X	Q	+	1	0	RP11-428C6.1	73105528	0.054000	0.20591	0.986000	0.45419	0.995000	0.86356	0.257000	0.18369	1.425000	0.47237	0.650000	0.86243	CAG		PASS	0.502	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			3	12	3	12	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73932188	73932188	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:73932188C>T	ENST00000302351.4	-	2	1253	c.123G>A	c.(121-123)caG>caA	p.Q41Q	ENC1_ENST00000537006.1_Silent_p.Q41Q|ENC1_ENST00000510316.1_Splice_Site	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	41					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.Q41Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		AGAGACGCTGCTGGCGTAAAA	0.557																																						uc003kdc.3																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(121-123)CAG>CAA		ectodermal-neural cortex (with BTB-like domain)							62.0	62.0	62.0					5																	73932188		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73932188C>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.123G>A	5.37:g.73932188C>T						ENC1_uc011css.1_Splice_Site	p.Q41Q	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1254	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	41					B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.123G>A	CCDS4021.1																																																																																				PASS	0.557	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		9	33	9	33	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75964510	75964510	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:75964510A>G	ENST00000274364.6	+	23	2981	c.2684A>G	c.(2683-2685)aAc>aGc	p.N895S	IQGAP2_ENST00000502745.1_Missense_Mutation_p.N391S|IQGAP2_ENST00000379730.3_Missense_Mutation_p.N397S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.N391S	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	895					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.N895S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTCTAGACCAACCCTTTATAC	0.323																																						uc003kek.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(2683-2685)AAC>AGC		IQ motif containing GTPase activating protein 2							55.0	55.0	55.0					5																	75964510		2203	4293	6496	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75964510A>G	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2684A>G	5.37:g.75964510A>G	ENSP00000274364:p.Asn895Ser					IQGAP2_uc010izv.2_Missense_Mutation_p.N448S|IQGAP2_uc011csv.1_Missense_Mutation_p.N391S|IQGAP2_uc003kel.2_Missense_Mutation_p.N391S	p.N895S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	23	2906	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	895					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2684A>G	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941476	0.53079	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.48	4.3	0.51218	Rho GTPase activation protein (1);	0.142778	0.64402	D	0.000009	D	0.85379	0.5683	M	0.86953	2.85	0.50171	D	0.999851	B;B;B;B	0.23990	0.046;0.095;0.046;0.056	B;B;B;B	0.29353	0.09;0.101;0.09;0.041	T	0.83285	-0.0036	10	0.66056	D	0.02	-17.1638	12.5658	0.56308	0.8608:0.1392:0.0:0.0	.	397;845;391;895	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	S	895;397;845;448;391;391	ENSP00000274364:N895S;ENSP00000442313:N397S;ENSP00000421097:N845S;ENSP00000422661:N448S;ENSP00000379535:N391S;ENSP00000426027:N391S	ENSP00000274364:N895S	N	+	2	0	IQGAP2	76000266	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.416000	0.80143	0.890000	0.36211	0.482000	0.46254	AAC		PASS	0.323	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		8	14	8	14	---	---	---	---
CRHBP	1393	broad.mit.edu	37	5	76264654	76264654	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:76264654G>A	ENST00000274368.4	+	7	1335	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	305					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)	p.E305K(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGAGCCGTACGAGCTGGAAAA	0.453																																						uc003ker.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GAG>AAG		corticotropin releasing hormone binding protein							142.0	128.0	133.0					5																	76264654		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76264654G>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.913G>A	5.37:g.76264654G>A	ENSP00000274368:p.Glu305Lys						p.E305K	NM_001882	NP_001873	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	7	1193	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	305					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.913G>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397075	0.62177	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.64	4.78	0.61160	.	0.112510	0.64402	D	0.000015	T	0.60919	0.2306	M	0.71581	2.175	0.80722	D	1	P	0.49862	0.929	P	0.45037	0.467	T	0.67130	-0.5748	9	0.66056	D	0.02	-4.3789	13.1671	0.59577	0.0742:0.0:0.9258:0.0	.	305	P24387	CRHBP_HUMAN	K	305	.	ENSP00000274368:E305K	E	+	1	0	CRHBP	76300410	1.000000	0.71417	0.156000	0.22583	0.087000	0.18053	8.982000	0.93471	1.527000	0.49086	0.655000	0.94253	GAG		PASS	0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		17	29	17	29	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029528	79029528	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:79029528G>A	ENST00000446378.2	+	2	4971	c.4940G>A	c.(4939-4941)aGa>aAa	p.R1647K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1647					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.R1647K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATTTAGGTAGACAAAGTGGA	0.433																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(4939-4941)AGA>AAA		cardiomyopathy associated 5							81.0	81.0	81.0					5																	79029528		1848	4100	5948	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029528G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4940G>A	5.37:g.79029528G>A	ENSP00000394770:p.Arg1647Lys						p.R1647K	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5012	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1647					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4940G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516635	0.44763	.	.	ENSG00000164309	ENST00000446378	T	0.07114	3.22	4.66	3.78	0.43462	.	0.782790	0.11252	N	0.583516	T	0.08044	0.0201	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.18241	-1.0343	10	0.30078	T	0.28	.	7.7554	0.28921	0.1115:0.0:0.8884:0.0	.	1647	Q8N3K9	CMYA5_HUMAN	K	1647	ENSP00000394770:R1647K	ENSP00000394770:R1647K	R	+	2	0	CMYA5	79065284	0.047000	0.20315	0.008000	0.14137	0.796000	0.44982	0.976000	0.29462	2.163000	0.67991	0.655000	0.94253	AGA		PASS	0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	66	15	66	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029588	79029588	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:79029588C>T	ENST00000446378.2	+	2	5031	c.5000C>T	c.(4999-5001)tCt>tTt	p.S1667F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1667					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S1667F(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGAGGATTCTGTTTTAGAA	0.403																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(4999-5001)TCT>TTT		cardiomyopathy associated 5							62.0	63.0	62.0					5																	79029588		1851	4095	5946	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029588C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5000C>T	5.37:g.79029588C>T	ENSP00000394770:p.Ser1667Phe						p.S1667F	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5072	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1667					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5000C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909002	0.52439	.	.	ENSG00000164309	ENST00000446378	T	0.59083	0.29	4.84	3.96	0.45880	.	0.488003	0.17408	N	0.175289	T	0.59810	0.2221	L	0.47190	1.495	0.09310	N	1	D	0.56968	0.978	P	0.54664	0.758	T	0.52749	-0.8534	10	0.87932	D	0	.	8.064	0.30651	0.0:0.8916:0.0:0.1084	.	1667	Q8N3K9	CMYA5_HUMAN	F	1667	ENSP00000394770:S1667F	ENSP00000394770:S1667F	S	+	2	0	CMYA5	79065344	0.334000	0.24739	0.560000	0.28344	0.897000	0.52465	1.464000	0.35288	2.247000	0.74100	0.655000	0.94253	TCT		PASS	0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		11	53	11	53	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029791	79029791	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:79029791G>A	ENST00000446378.2	+	2	5234	c.5203G>A	c.(5203-5205)Gga>Aga	p.G1735R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1735					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.G1735R(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTAGCTGAAGGAGGCAACCC	0.418																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(5203-5205)GGA>AGA		cardiomyopathy associated 5							48.0	49.0	49.0					5																	79029791		1846	4088	5934	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029791G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5203G>A	5.37:g.79029791G>A	ENSP00000394770:p.Gly1735Arg						p.G1735R	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5275	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1735					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5203G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320465	0.23994	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	3.64	1.33	0.21861	.	.	.	.	.	T	0.35508	0.0934	N	0.22421	0.69	0.09310	N	0.999994	B	0.14805	0.011	B	0.12837	0.008	T	0.30822	-0.9965	9	0.72032	D	0.01	.	6.2612	0.20901	0.301:0.0:0.699:0.0	.	1735	Q8N3K9	CMYA5_HUMAN	R	1735	ENSP00000394770:G1735R	ENSP00000394770:G1735R	G	+	1	0	CMYA5	79065547	1.000000	0.71417	0.750000	0.31169	0.122000	0.20287	1.484000	0.35508	0.531000	0.28639	-0.253000	0.11424	GGA		PASS	0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		8	56	8	56	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79034258	79034258	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:79034258C>T	ENST00000446378.2	+	2	9701	c.9670C>T	c.(9670-9672)Ccc>Tcc	p.P3224S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3224					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.P3224S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCATCATTTCCCAGCAGAAA	0.378																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(9670-9672)CCC>TCC		cardiomyopathy associated 5							45.0	45.0	45.0					5																	79034258		1918	4127	6045	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034258C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9670C>T	5.37:g.79034258C>T	ENSP00000394770:p.Pro3224Ser						p.P3224S	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	9742	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3224					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.9670C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585148	0.66105	.	.	ENSG00000164309	ENST00000446378	T	0.17054	2.3	5.52	5.52	0.82312	.	0.000000	0.50627	D	0.000111	T	0.44519	0.1297	M	0.71581	2.175	0.41612	D	0.988918	D	0.89917	1.0	D	0.81914	0.995	T	0.38628	-0.9652	10	0.87932	D	0	.	19.4391	0.94811	0.0:1.0:0.0:0.0	.	3224	Q8N3K9	CMYA5_HUMAN	S	3224	ENSP00000394770:P3224S	ENSP00000394770:P3224S	P	+	1	0	CMYA5	79070014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.224000	0.65288	2.597000	0.87782	0.655000	0.94253	CCC		PASS	0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		12	28	12	28	---	---	---	---
SPZ1	84654	broad.mit.edu	37	5	79616862	79616863	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:79616862_79616863AG>TA	ENST00000296739.4	+	1	1073_1074	c.828_829AG>TA	c.(826-831)aaAGac>aaTAac	p.276_277KD>NN		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	276					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D277N(1)|p.K276_D277>NN(1)|p.K276N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AATCTCAGAAAGACATAAGTGA	0.406																																						uc003kgn.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(826-828)AAA>AAT|c.(829-831)GAC>AAC		spermatogenic leucine zipper 1																																				SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616862A>T|g.chr5:79616863G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		Exception_encountered	5.37:g.79616862_79616863delinsTA	ENSP00000369611:p.K276_D277delinsNN					uc011ctk.1_RNA	p.K276N|p.D277N	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1073|1074	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	276|277					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.828A>T|c.829G>A	CCDS43336.1																																																																																				PASS	0.406	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		27	48	27	48	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80476040	80476040	+	Silent	SNP	G	G	A	rs549625570		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:80476040G>A	ENST00000265080.4	+	18	2800	c.2733G>A	c.(2731-2733)cgG>cgA	p.R911R		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	911					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R911R(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTATTATACGGAGAACGGCTA	0.443																																						uc003kha.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2731-2733)CGG>CGA		Ras protein-specific guanine							162.0	154.0	157.0					5																	80476040		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80476040G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2733G>A	5.37:g.80476040G>A						RASGRF2_uc011ctn.1_RNA	p.R911R	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	18	2733	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	911					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.2733G>A	CCDS4052.1																																																																																				PASS	0.443	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		48	69	48	69	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82815510	82815510	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:82815510G>A	ENST00000265077.3	+	7	1950	c.1385G>A	c.(1384-1386)aGt>aAt	p.S462N	VCAN_ENST00000512590.2_Missense_Mutation_p.S414N|VCAN_ENST00000342785.4_Missense_Mutation_p.S462N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	462	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S462N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTGCTCCAGAGTACAACTGGC	0.433																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(1384-1386)AGT>AAT		versican isoform 1 precursor							93.0	94.0	93.0					5																	82815510		2203	4299	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815510G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1385G>A	5.37:g.82815510G>A	ENSP00000265077:p.Ser462Asn					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S462N|VCAN_uc003kik.3_Intron	p.S462N	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1741	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	462			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.1385G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540461	0.27563	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86366	-2.0;-2.09;-2.11	5.92	3.98	0.46160	.	0.280189	0.30859	N	0.008727	D	0.87545	0.6204	M	0.69823	2.125	0.09310	N	1	P;D	0.60575	0.914;0.988	P;P	0.48425	0.577;0.518	T	0.81042	-0.1112	10	0.42905	T	0.14	.	12.0991	0.53772	0.0:0.1769:0.7036:0.1195	.	462;462	P13611-3;P13611	.;CSPG2_HUMAN	N	462;462;414	ENSP00000265077:S462N;ENSP00000342768:S462N;ENSP00000425959:S414N	ENSP00000265077:S462N	S	+	2	0	VCAN	82851266	0.046000	0.20272	0.925000	0.36789	0.155000	0.21991	0.377000	0.20552	2.809000	0.96659	0.655000	0.94253	AGT		PASS	0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		15	53	15	53	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82837997	82837997	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:82837997C>T	ENST00000265077.3	+	8	9740	c.9175C>T	c.(9175-9177)Cca>Tca	p.P3059S	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P2072S|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3059	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P3059S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCAACACCACCATTTTCCCT	0.428																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9175-9177)CCA>TCA		versican isoform 1 precursor							105.0	111.0	109.0					5																	82837997		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837997C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9175C>T	5.37:g.82837997C>T	ENSP00000265077:p.Pro3059Ser					VCAN_uc003kij.3_Missense_Mutation_p.P2072S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1723S	p.P3059S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9531	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3059			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9175C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	7.238	0.600730	0.13939	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.16324	2.35;2.35	5.9	-1.98	0.07480	.	0.526185	0.17579	N	0.169212	T	0.05547	0.0146	N	0.04508	-0.205	0.46874	D	0.99923	B;B	0.13594	0.008;0.007	B;B	0.12156	0.007;0.004	T	0.43734	-0.9373	10	0.07644	T	0.81	.	8.7382	0.34541	0.0:0.4434:0.1063:0.4502	.	2072;3059	P13611-2;P13611	.;CSPG2_HUMAN	S	3059;2072	ENSP00000265077:P3059S;ENSP00000340062:P2072S	ENSP00000265077:P3059S	P	+	1	0	VCAN	82873753	0.213000	0.23551	0.083000	0.20561	0.735000	0.41995	-0.257000	0.08745	-0.491000	0.06697	0.563000	0.77884	CCA		PASS	0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		20	51	20	51	---	---	---	---
MEF2C	4208	broad.mit.edu	37	5	88018477	88018477	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:88018477C>T	ENST00000437473.2	-	11	1783	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	MEF2C_ENST00000424173.2_Missense_Mutation_p.E446K|MEF2C_ENST00000514028.1_Missense_Mutation_p.E456K|MEF2C_ENST00000504921.2_Missense_Mutation_p.E456K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000539796.1_Missense_Mutation_p.E400K|MEF2C_ENST00000514015.1_Missense_Mutation_p.E424K|MEF2C_ENST00000510942.1_Missense_Mutation_p.E448K|MEF2C_ENST00000508569.1_Missense_Mutation_p.E416K|MEF2C_ENST00000340208.5_Missense_Mutation_p.E466K|MEF2C_ENST00000506554.1_3'UTR	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	456					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E456K(2)|p.E446K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTTTCCCTTTCGTCCGGCGAA	0.498										HNSCC(66;0.2)																												uc003kjj.2																			3	Substitution - Missense(3)		lung(3)	lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(1366-1368)GAA>AAA		myocyte enhancer factor 2C isoform 1							170.0	176.0	174.0					5																	88018477		1966	4147	6113	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018477C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1366G>A	5.37:g.88018477C>T	ENSP00000396219:p.Glu456Lys	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.E448K|MEF2C_uc003kjk.2_Missense_Mutation_p.E456K|MEF2C_uc003kjm.2_Missense_Mutation_p.E446K|MEF2C_uc003kjl.2_Missense_Mutation_p.E466K	p.E456K	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	11	2039	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	456					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1366G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972149	0.74246	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.70045	-0.13;-0.12;-0.09;-0.11;-0.11;-0.11;-0.35;-0.45;0.28	5.47	5.47	0.80525	.	0.045766	0.85682	D	0.000000	T	0.74291	0.3697	L	0.50333	1.59	0.58432	D	0.999999	P;D;D;D	0.61080	0.9;0.978;0.971;0.989	B;P;B;P	0.54706	0.281;0.759;0.218;0.746	T	0.76066	-0.3095	10	0.66056	D	0.02	-6.1891	19.3051	0.94158	0.0:1.0:0.0:0.0	.	446;466;456;448	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	466;446;456;456;456;448;416;424;400	ENSP00000340874:E466K;ENSP00000389610:E446K;ENSP00000421925:E456K;ENSP00000426665:E456K;ENSP00000396219:E456K;ENSP00000422390:E448K;ENSP00000423597:E416K;ENSP00000424606:E424K;ENSP00000441153:E400K	ENSP00000340874:E466K	E	-	1	0	MEF2C	88054233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.723000	0.93209	0.655000	0.94253	GAA		PASS	0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		26	116	26	116	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89971257	89971257	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:89971257T>C	ENST00000405460.2	+	24	5404	c.5308T>C	c.(5308-5310)Tac>Cac	p.Y1770H	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1770	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Y1770H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCTGAGGATTACCAGGTAAT	0.433																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(5308-5310)TAC>CAC		G protein-coupled receptor 98 precursor							71.0	71.0	71.0					5																	89971257		1935	4142	6077	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89971257T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5308T>C	5.37:g.89971257T>C	ENSP00000384582:p.Tyr1770His					GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA	p.Y1770H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	24	5404	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1770			Extracellular (Potential).|Calx-beta 12.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.5308T>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664246	0.88251	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.61392	0.11	5.16	5.16	0.70880	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88956	0.3390	10	0.87932	D	0	.	15.2779	0.73756	0.0:0.0:0.0:1.0	.	1770	Q8WXG9	GPR98_HUMAN	H	1770	ENSP00000384582:Y1770H	ENSP00000296619:Y1770H	Y	+	1	0	GPR98	90007013	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.785000	0.85724	2.057000	0.61298	0.482000	0.46254	TAC		PASS	0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	15	6	15	---	---	---	---
FAM81B	153643	broad.mit.edu	37	5	94727108	94727108	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:94727108C>T	ENST00000283357.5	+	1	61	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	5						nucleus (GO:0005634)		p.F5F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AATTACAATTCCTTGGTACAT	0.378																																						uc003kla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)TTC>TTT		hypothetical protein LOC153643							120.0	117.0	118.0					5																	94727108		1868	4098	5966	SO:0001819	synonymous_variant	153643							g.chr5:94727108C>T		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.15C>T	5.37:g.94727108C>T						FAM81B_uc010jbe.1_5'Flank	p.F5F	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	1	61	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	5						Silent	SNP	ENST00000283357.5	37	c.15C>T	CCDS43341.1																																																																																				PASS	0.378	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		29	54	29	54	---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96215571	96215571	+	Missense_Mutation	SNP	G	G	A	rs565149554		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:96215571G>A	ENST00000437043.3	+	2	893	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ERAP2_ENST00000379904.4_Missense_Mutation_p.R61Q|ERAP2_ENST00000510309.1_Missense_Mutation_p.R61Q|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	61					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R61Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AATGGGGAACGATTTCCTTGG	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20441	0.0		0.0	False		,,,				2504	0.0					uc003kmq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CGA>CAA		endoplasmic reticulum aminopeptidase 2							76.0	73.0	74.0					5																	96215571		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96215571G>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.182G>A	5.37:g.96215571G>A	ENSP00000400376:p.Arg61Gln					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.R61Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.R55Q|ERAP2_uc003kmu.2_RNA	p.R61Q	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	2	892	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	61			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.182G>A	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508682	0.27036	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04194	3.68;3.68;3.68;3.68;3.68	4.6	2.77	0.32553	.	0.423935	0.23524	N	0.047258	T	0.02156	0.0067	N	0.08118	0	0.19300	N	0.999976	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.47611	-0.9104	10	0.15952	T	0.53	.	4.4965	0.11839	0.0:0.5979:0.1888:0.2133	.	61;61	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Q	61	ENSP00000400376:R61Q;ENSP00000421175:R61Q;ENSP00000421849:R61Q;ENSP00000369235:R61Q;ENSP00000425758:R61Q	ENSP00000369235:R61Q	R	+	2	0	ERAP2	96241327	0.002000	0.14202	0.992000	0.48379	0.912000	0.54170	0.018000	0.13422	0.467000	0.27218	-0.241000	0.12123	CGA		PASS	0.488	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	17	6	17	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101735366	101735366	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:101735366C>T	ENST00000506729.1	-	10	1878	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	SLCO6A1_ENST00000379807.3_Silent_p.G569G|SLCO6A1_ENST00000379810.1_Silent_p.G316G|SLCO6A1_ENST00000389019.3_Silent_p.G507G|SLCO6A1_ENST00000513675.1_Silent_p.G316G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	569						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G569G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATCACATTTCCCGGGTCTGG	0.368																																						uc003knn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1705-1707)GGG>GGA		solute carrier organic anion transporter family,							117.0	112.0	113.0					5																	101735366		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735366C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1707G>A	5.37:g.101735366C>T						SLCO6A1_uc003kno.2_Silent_p.G316G|SLCO6A1_uc003knp.2_Silent_p.G569G|SLCO6A1_uc003knq.2_Silent_p.G507G	p.G569G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1879	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	569			Extracellular (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.1707G>A	CCDS34206.1																																																																																				PASS	0.368	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		13	50	13	50	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101748834	101748834	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:101748834C>T	ENST00000506729.1	-	9	1657	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G496R|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G243R|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G434R|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G243R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	496	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G496R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTGAGGTTTCCCAACTTCCCT	0.318																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1486-1488)GGA>AGA		solute carrier organic anion transporter family,							42.0	43.0	43.0					5																	101748834		2203	4294	6497	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748834C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1486G>A	5.37:g.101748834C>T	ENSP00000421339:p.Gly496Arg					SLCO6A1_uc003kno.2_Missense_Mutation_p.G243R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G496R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G434R	p.G496R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1658	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	496			Extracellular (Potential).|Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1486G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359168	0.24598	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.25	3.43	0.39272	Major facilitator superfamily domain, general substrate transporter (1);	0.227302	0.30392	N	0.009738	T	0.50956	0.1646	M	0.69248	2.105	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.996	T	0.34551	-0.9824	10	0.37606	T	0.19	.	5.9271	0.19118	0.3396:0.5722:0.0:0.0882	.	434;243;496	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	R	496;496;434;243;243	ENSP00000421339:G496R;ENSP00000369135:G496R;ENSP00000373671:G434R;ENSP00000421990:G243R;ENSP00000369138:G243R	ENSP00000369135:G496R	G	-	1	0	SLCO6A1	101776733	0.203000	0.23435	0.120000	0.21714	0.082000	0.17680	0.468000	0.22051	0.738000	0.32606	0.655000	0.94253	GGA		PASS	0.318	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		4	34	4	34	---	---	---	---
SLC25A46	91137	broad.mit.edu	37	5	110096975	110096976	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:110096975_110096976GG>AA	ENST00000355943.3	+	8	876_877	c.750_751GG>AA	c.(748-753)atGGga>atAAga	p.250_251MG>IR	SLC25A46_ENST00000509432.1_Missense_Mutation_p.37_38MG>IR|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513807.1_Missense_Mutation_p.88_89MG>IR|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.104_105MG>IR|SLC25A46_ENST00000509442.2_Missense_Mutation_p.159_160MG>IR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	250					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G251R(1)|p.M250I(1)|p.M250_G251>IR(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TGATAGGCATGGGAGTGCCTCA	0.381																																						uc003koz.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(748-750)ATG>ATA|c.(751-753)GGA>AGA		solute carrier family 25, member 46																																				SO:0001583	missense	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110096975G>A|g.chr5:110096976G>A	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	Exception_encountered	5.37:g.110096975_110096976delinsAA	ENSP00000348211:p.M250_G251delinsIR					SLC25A46_uc011cvi.1_Missense_Mutation_p.M159I|SLC25A46_uc011cvi.1_Missense_Mutation_p.G160R	p.M250I|p.G251R	NM_138773	NP_620128	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	817|818	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	250|251					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	c.750G>A|c.751G>A	CCDS4100.1																																																																																				PASS	0.381	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		12|11	78	11	78	---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110428113	110428113	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:110428113C>T	ENST00000513710.2	+	1	131	c.127C>T	c.(127-129)Cct>Tct	p.P43S	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000506538.2_Missense_Mutation_p.P43S|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	43					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P43S(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TACGTGTTTTCCTTCAGGACC	0.627																																						uc003kpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(127-129)CCT>TCT		WD repeat domain 36							57.0	65.0	62.0					5																	110428113		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428113C>T	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.127C>T	5.37:g.110428113C>T	ENSP00000424628:p.Pro43Ser					WDR36_uc010jbu.2_RNA	p.P43S	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	244	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	43					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.127C>T	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	9.549	1.115381	0.20795	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.63580	-0.05;-0.05	5.22	0.258	0.15578	.	1.440640	0.04584	N	0.395486	T	0.41994	0.1183	N	0.14661	0.345	0.20196	N	0.999929	B	0.06786	0.001	B	0.04013	0.001	T	0.31998	-0.9923	10	0.87932	D	0	0.4845	1.3292	0.02131	0.125:0.3437:0.2437:0.2876	.	43	Q8NI36	WDR36_HUMAN	S	43	ENSP00000423067:P43S;ENSP00000424628:P43S	ENSP00000423067:P43S	P	+	1	0	WDR36	110456012	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.358000	0.07641	-0.188000	0.10499	-0.961000	0.02630	CCT		PASS	0.627	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		12	28	12	28	---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111504718	111504718	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:111504718C>T	ENST00000261486.5	-	21	2100	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	608						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.G608G(1)|p.G235G(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTGATCGCTCCCCATCTGAAC	0.507																																						uc003kpv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1822-1824)GGG>GGA		erythrocyte protein band 4.1-like 4							137.0	141.0	140.0					5																	111504718		2096	4215	6311	SO:0001819	synonymous_variant	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111504718C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1824G>A	5.37:g.111504718C>T						EPB41L4A_uc003kpp.1_Silent_p.G235G|EPB41L4A_uc003kpu.1_RNA	p.G608G	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	21	2098	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	608					A4FUI6	Silent	SNP	ENST00000261486.5	37	c.1824G>A	CCDS43350.1																																																																																				PASS	0.507	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			18	51	18	51	---	---	---	---
EPB41L4A	64097	broad.mit.edu	37	5	111598199	111598199	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:111598199G>A	ENST00000261486.5	-	7	910	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.P212S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ACATAGACGGGATGGAGGTCA	0.423																																						uc003kpv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(634-636)CCC>TCC		erythrocyte protein band 4.1-like 4							124.0	122.0	123.0					5																	111598199		1890	4117	6007	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111598199G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.634C>T	5.37:g.111598199G>A	ENSP00000261486:p.Pro212Ser						p.P212S	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	7	908	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	212			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.634C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590562	0.86851	.	.	ENSG00000129595	ENST00000261486	D	0.82803	-1.65	5.54	5.54	0.83059	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	M	0.72479	2.2	0.49389	D	0.999786	D	0.76494	0.999	D	0.66084	0.941	D	0.89755	0.3943	10	0.51188	T	0.08	.	18.6127	0.91291	0.0:0.0:1.0:0.0	.	212	Q9HCS5	E41LA_HUMAN	S	212	ENSP00000261486:P212S	ENSP00000261486:P212S	P	-	1	0	EPB41L4A	111626098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.502000	0.81614	2.764000	0.94973	0.655000	0.94253	CCC		PASS	0.423	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			36	44	36	44	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113798813	113798813	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:113798813C>T	ENST00000512097.3	+	5	2087	c.1069C>T	c.(1069-1071)Ctc>Ttc	p.L357F	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.L9F|KCNN2_ENST00000264773.3_Missense_Mutation_p.L357F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	357					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L357F(2)|p.L9F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AATAACTTTTCTCTCCATTGG	0.383																																						uc003kqo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1069-1071)CTC>TTC		small conductance calcium-activated potassium							299.0	263.0	275.0					5																	113798813		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113798813C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1069C>T	5.37:g.113798813C>T	ENSP00000427120:p.Leu357Phe					KCNN2_uc003kqp.2_Missense_Mutation_p.L9F|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron	p.L357F	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	4	1526	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	357					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1069C>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913536	0.92178	.	.	ENSG00000080709	ENST00000512097;ENST00000264773;ENST00000503706	T;T;D	0.97505	1.83;1.83;-4.41	5.63	5.63	0.86233	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	L	0.55103	1.725	0.80722	D	1	P	0.46706	0.883	P	0.58721	0.844	D	0.98378	1.0557	10	0.87932	D	0	-4.6131	19.2915	0.94102	0.0:1.0:0.0:0.0	.	357	Q9H2S1	KCNN2_HUMAN	F	357;357;9	ENSP00000427120:L357F;ENSP00000264773:L357F;ENSP00000421439:L9F	ENSP00000264773:L357F	L	+	1	0	KCNN2	113826712	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.838000	0.62803	2.658000	0.90341	0.561000	0.74099	CTC		PASS	0.383	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		42	57	42	57	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822850	113822850	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:113822850G>A	ENST00000512097.3	+	7	2376	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.R105Q|KCNN2_ENST00000264773.3_Missense_Mutation_p.R453Q|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	453	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.R105Q(1)|p.R453Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AAACATCAACGAAAATTCCTG	0.323																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1357-1359)CGA>CAA		small conductance calcium-activated potassium							93.0	89.0	90.0					5																	113822850		2201	4300	6501	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113822850G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1358G>A	5.37:g.113822850G>A	ENSP00000427120:p.Arg453Gln					KCNN2_uc003kqp.2_Missense_Mutation_p.R105Q|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.R453Q	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	6	1815	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	453			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1358G>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363114	0.95877	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98937	-5.25;-3.55	5.2	5.2	0.72013	Calmodulin-binding domain (2);	0.106123	0.64402	D	0.000008	D	0.98814	0.9600	M	0.88704	2.975	0.80722	D	1	D	0.59767	0.986	P	0.49953	0.627	D	0.99884	1.1119	10	0.87932	D	0	.	18.7044	0.91632	0.0:0.0:1.0:0.0	.	453	Q9H2S1	KCNN2_HUMAN	Q	453;105	ENSP00000264773:R453Q;ENSP00000421439:R105Q	ENSP00000264773:R453Q	R	+	2	0	KCNN2	113850749	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.288000	0.96055	2.569000	0.86673	0.655000	0.94253	CGA		PASS	0.323	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		21	30	21	30	---	---	---	---
TRIM36	55521	broad.mit.edu	37	5	114499374	114499374	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:114499374G>A	ENST00000282369.3	-	2	260	c.139C>T	c.(139-141)Cct>Tct	p.P47S	TRIM36_ENST00000513154.1_Missense_Mutation_p.P35S|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	47					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P47S(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGTTGGCAAGGGAGAATCAAT	0.418																																						uc003kqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(2)	8						c.(139-141)CCT>TCT		tripartite motif-containing 36 isoform 1							135.0	127.0	130.0					5																	114499374		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499374G>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.139C>T	5.37:g.114499374G>A	ENSP00000282369:p.Pro47Ser					TRIM36_uc011cwc.1_Missense_Mutation_p.P35S|TRIM36_uc003kqt.2_Intron	p.P47S	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	648	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	47			RING-type; degenerate.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.139C>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833166	0.91036	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;D	0.87029	-2.2;-2.2;-2.2	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92911	0.6347	10	0.87932	D	0	.	18.9679	0.92704	0.0:0.0:1.0:0.0	.	35;47	E9PFI8;Q9NQ86	.;TRI36_HUMAN	S	47;35;35	ENSP00000282369:P47S;ENSP00000423934:P35S;ENSP00000424743:P35S	ENSP00000282369:P47S	P	-	1	0	TRIM36	114527273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.468000	0.83385	0.655000	0.94253	CCT		PASS	0.418	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		12	38	12	38	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115824669	115824669	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:115824669G>A	ENST00000343348.6	-	8	1357	c.570C>T	c.(568-570)ttC>ttT	p.F190F	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.F190F|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.F190F	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	190	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.F190F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAATGGCAAGGAAGTCAGTCA	0.453																																						uc010jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(568-570)TTC>TTT		sema domain, transmembrane domain (TM), and							47.0	44.0	45.0					5																	115824669		1958	4159	6117	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115824669G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.570C>T	5.37:g.115824669G>A						SEMA6A_uc003krx.3_Silent_p.F190F	p.F190F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	8	1279	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	190			Sema.|Extracellular (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.570C>T	CCDS47256.1																																																																																				PASS	0.453	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		3	0	3	0	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118513065	118513065	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:118513065A>G	ENST00000311085.8	+	27	6852	c.6772A>G	c.(6772-6774)Aat>Gat	p.N2258D	DMXL1_ENST00000539542.1_Missense_Mutation_p.N2258D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2258								p.N2258D(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTCAGACGAATCAGTTTAC	0.308																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(6772-6774)AAT>GAT		Dmx-like 1							57.0	53.0	54.0					5																	118513065		2201	4300	6501	SO:0001583	missense	1657							g.chr5:118513065A>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6772A>G	5.37:g.118513065A>G	ENSP00000309690:p.Asn2258Asp					DMXL1_uc010jcl.1_Missense_Mutation_p.N2258D	p.N2258D	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	27	6953	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2258						Missense_Mutation	SNP	ENST00000311085.8	37	c.6772A>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492920	0.64074	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10099	2.91;2.91	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	L	0.37630	1.12	0.58432	D	0.999999	D;P	0.53745	0.962;0.745	B;B	0.41813	0.364;0.367	T	0.05289	-1.0894	10	0.36615	T	0.2	-27.7196	16.4484	0.83959	1.0:0.0:0.0:0.0	.	2258;2258	F5H269;Q9Y485	.;DMXL1_HUMAN	D	2258	ENSP00000309690:N2258D;ENSP00000439479:N2258D	ENSP00000309690:N2258D	N	+	1	0	DMXL1	118540964	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	8.701000	0.91331	2.285000	0.76669	0.533000	0.62120	AAT		PASS	0.308	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		7	19	7	19	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118533536	118533536	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:118533536C>T	ENST00000311085.8	+	32	7710	c.7630C>T	c.(7630-7632)Cat>Tat	p.H2544Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H2544Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2544								p.H2544Y(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTGAAATCCATGGTGGGCC	0.448																																						uc003ksd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(7630-7632)CAT>TAT		Dmx-like 1							133.0	132.0	132.0					5																	118533536		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118533536C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7630C>T	5.37:g.118533536C>T	ENSP00000309690:p.His2544Tyr					DMXL1_uc010jcl.1_Missense_Mutation_p.H2544Y	p.H2544Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	32	7811	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2544						Missense_Mutation	SNP	ENST00000311085.8	37	c.7630C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	7.561	0.664620	0.14710	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09538	2.97;2.97	5.41	4.53	0.55603	.	0.336492	0.36234	N	0.002720	T	0.04407	0.0121	N	0.05383	-0.06	0.30154	N	0.802789	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33240	-0.9876	10	0.02654	T	1	-4.074	9.1076	0.36707	0.0:0.7625:0.0:0.2375	.	2544;2544	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	2544	ENSP00000309690:H2544Y;ENSP00000439479:H2544Y	ENSP00000309690:H2544Y	H	+	1	0	DMXL1	118561435	0.981000	0.34729	0.988000	0.46212	0.979000	0.70002	2.252000	0.43196	1.392000	0.46585	0.563000	0.77884	CAT		PASS	0.448	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		17	64	17	64	---	---	---	---
TNFAIP8	25816	broad.mit.edu	37	5	118728999	118728999	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:118728999C>T	ENST00000503646.1	+	3	1208	c.520C>T	c.(520-522)Cct>Tct	p.P174S	TNFAIP8_ENST00000274456.6_Missense_Mutation_p.P164S|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.P176S|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.P174S|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.P186S			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	174					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)	p.P174S(1)		ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		CTTGTATAATCCTTTTGGGAA	0.373																																						uc003ksh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(520-522)CCT>TCT		tumor necrosis factor, alpha-induced protein 8							90.0	92.0	91.0					5																	118728999		1866	4123	5989	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728999C>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.520C>T	5.37:g.118728999C>T	ENSP00000421848:p.Pro174Ser					TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.2_Missense_Mutation_p.P164S|TNFAIP8_uc011cwf.1_Missense_Mutation_p.P168S|TNFAIP8_uc003ksi.2_Missense_Mutation_p.P174S	p.P174S	NM_014350	NP_055165	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	3	1208	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	174					B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.520C>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823332	0.71143	.	.	ENSG00000145779	ENST00000274456;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.53562	0.1804	M	0.65498	2.005	0.80722	D	1	D;D;P	0.67145	0.995;0.996;0.956	P;D;P	0.63192	0.882;0.912;0.551	T	0.38714	-0.9648	10	0.35671	T	0.21	-8.9713	19.9285	0.97112	0.0:1.0:0.0:0.0	.	186;174;164	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	S	164;186;174;174;176	ENSP00000274456:P164S;ENSP00000427424:P186S;ENSP00000422245:P174S;ENSP00000421848:P174S;ENSP00000427160:P176S	ENSP00000274456:P164S	P	+	1	0	TNFAIP8	118756898	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.905000	0.56333	2.818000	0.97014	0.591000	0.81541	CCT		PASS	0.373	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350		39	65	39	65	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120022157	120022157	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:120022157G>A	ENST00000407149.2	+	2	877	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	PRR16_ENST00000505123.1_Missense_Mutation_p.R153Q|PRR16_ENST00000379551.2_Missense_Mutation_p.R200Q|PRR16_ENST00000446965.1_Missense_Mutation_p.R153Q			Q569H4	LARGN_HUMAN	proline rich 16	223	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.R200Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGTGATACCCGGTATAACATA	0.507																																						uc003ksq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(667-669)CGG>CAG		proline rich 16							72.0	73.0	73.0					5																	120022157		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022157G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.668G>A	5.37:g.120022157G>A	ENSP00000385118:p.Arg223Gln					PRR16_uc003ksp.2_Missense_Mutation_p.R200Q|PRR16_uc003ksr.2_Missense_Mutation_p.R153Q	p.R223Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	831	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	223			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.668G>A		.	.	.	.	.	.	.	.	.	.	G	11.87	1.768128	0.31320	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.45	5.45	0.79879	.	0.074066	0.56097	D	0.000021	T	0.28101	0.0693	L	0.31207	0.915	0.35396	D	0.791163	B;B	0.28880	0.179;0.226	B;B	0.19148	0.024;0.024	T	0.32481	-0.9905	9	.	.	.	-0.5089	11.5852	0.50914	0.0828:0.0:0.9172:0.0	.	223;200	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	223;200;153;153	ENSP00000385118:R223Q;ENSP00000368869:R200Q;ENSP00000423446:R153Q;ENSP00000405491:R153Q	.	R	+	2	0	PRR16	120050056	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.967000	0.70403	2.563000	0.86464	0.650000	0.86243	CGG		PASS	0.507	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		8	34	8	34	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187993	121187994	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:121187993_121187994CC>TT	ENST00000321339.1	+	1	344_345	c.335_336CC>TT	c.(334-336)tCC>tTT	p.S112F		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	112	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.S112F(2)|p.S112S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AACAACTTCTCCAGGTATTTCC	0.579																																						uc003kss.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(334-336)TCC>TTC|c.(334-336)TCC>TCT		ferritin mitochondrial precursor																																				SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187993C>T|g.chr5:121187994C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	Exception_encountered	5.37:g.121187993_121187994delinsTT	ENSP00000313691:p.Ser112Phe						p.S112F|p.S112S	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	344|345	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	112			Ferritin-like diiron.			Missense_Mutation|Silent	SNP	ENST00000321339.1	37	c.335C>T|c.336C>T	CCDS4128.1																																																																																				PASS	0.579	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		10	14	10	14	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121188068	121188068	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:121188068G>A	ENST00000321339.1	+	1	419	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	137	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.G137E(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AACCAGCGAGGAGGCCGGATC	0.582																																						uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(409-411)GGA>GAA		ferritin mitochondrial precursor							64.0	67.0	66.0					5																	121188068		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188068G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.410G>A	5.37:g.121188068G>A	ENSP00000313691:p.Gly137Glu						p.G137E	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	419	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	137			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.410G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570799	0.86542	.	.	ENSG00000181867	ENST00000321339	T	0.79653	-1.29	3.6	3.6	0.41247	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94177	0.7428	10	0.87932	D	0	.	13.5523	0.61738	0.0:0.0:1.0:0.0	.	137	Q8N4E7	FTMT_HUMAN	E	137	ENSP00000313691:G137E	ENSP00000313691:G137E	G	+	2	0	FTMT	121215967	1.000000	0.71417	0.976000	0.42696	0.999000	0.98932	8.984000	0.93482	2.303000	0.77524	0.655000	0.94253	GGA		PASS	0.582	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		7	25	7	25	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121188234	121188234	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:121188234C>T	ENST00000321339.1	+	1	585	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	192	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.F192F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGTGCGATTTCCTGGAAACCT	0.512																																						uc003kss.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(574-576)TTC>TTT		ferritin mitochondrial precursor							132.0	130.0	130.0					5																	121188234		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188234C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.576C>T	5.37:g.121188234C>T							p.F192F	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	585	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	192			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.576C>T	CCDS4128.1																																																																																				PASS	0.512	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		40	65	40	65	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356383	121356383	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:121356383A>T	ENST00000339397.4	+	6	1025	c.953A>T	c.(952-954)gAt>gTt	p.D318V	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.D318V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CTTAAAGAAGATACAGGTGAA	0.363																																						uc003kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)GAT>GTT		serum response factor binding protein 1							68.0	62.0	63.0					5																	121356383		1827	4087	5914	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356383A>T	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.953A>T	5.37:g.121356383A>T	ENSP00000341324:p.Asp318Val						p.D318V	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	1025	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	318						Missense_Mutation	SNP	ENST00000339397.4	37	c.953A>T	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583228	0.28268	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.33	0.161	0.14977	.	0.650373	0.17375	N	0.176508	T	0.30696	0.0773	L	0.47716	1.5	0.09310	N	1	B	0.23128	0.08	B	0.19946	0.027	T	0.23726	-1.0180	9	0.62326	D	0.03	-1.7983	5.4491	0.16552	0.6147:0.0:0.267:0.1183	.	318	Q8NEF9	SRFB1_HUMAN	V	318	.	ENSP00000341324:D318V	D	+	2	0	SRFBP1	121384282	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.097000	0.11042	0.076000	0.16826	0.460000	0.39030	GAT		PASS	0.363	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		12	20	12	20	---	---	---	---
ZNF474	133923	broad.mit.edu	37	5	121488583	121488583	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:121488583C>T	ENST00000296600.4	+	2	1281	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	300							metal ion binding (GO:0046872)	p.L300L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGACCGCCTCCTGGTACACCA	0.463																																						uc003ksv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)CTG>TTG		zinc finger protein 474							72.0	65.0	67.0					5																	121488583		2203	4300	6503	SO:0001819	synonymous_variant	133923					intracellular	zinc ion binding	g.chr5:121488583C>T	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.898C>T	5.37:g.121488583C>T							p.L300L	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	1274	+		all_cancers(142;0.229)|Prostate(80;0.0387)	300					A8K4M0|Q96M07	Silent	SNP	ENST00000296600.4	37	c.898C>T	CCDS4130.1																																																																																				PASS	0.463	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		11	30	11	30	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122722273	122722273	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:122722273G>T	ENST00000306467.5	-	10	1823	c.1519C>A	c.(1519-1521)Cag>Aag	p.Q507K	CEP120_ENST00000306481.6_Missense_Mutation_p.Q481K|CEP120_ENST00000328236.5_Missense_Mutation_p.Q507K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	507					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q507K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGTAAGACTGGGGAAGAAAA	0.353																																						uc003ktk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1519-1521)CAG>AAG		coiled-coil domain containing 100							60.0	59.0	60.0					5																	122722273		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122722273G>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1519C>A	5.37:g.122722273G>T	ENSP00000303058:p.Gln507Lys					CEP120_uc011cwq.1_Missense_Mutation_p.Q316K|CEP120_uc010jcz.1_Missense_Mutation_p.Q481K	p.Q507K	NM_153223	NP_694955	Q8N960	CE120_HUMAN			11	1601	-			507					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1519C>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	15.40	2.820940	0.50633	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.45668	2.22;2.22;2.22;0.89	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	L	0.56769	1.78	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.14337	-1.0476	10	0.23302	T	0.38	-16.0516	15.8844	0.79232	0.0:0.0:0.864:0.136	.	507	Q8N960	CE120_HUMAN	K	507;507;481;481	ENSP00000303058:Q507K;ENSP00000327504:Q507K;ENSP00000307419:Q481K;ENSP00000421620:Q481K	ENSP00000303058:Q507K	Q	-	1	0	CEP120	122750172	1.000000	0.71417	0.992000	0.48379	0.870000	0.49936	7.691000	0.84191	2.833000	0.97629	0.585000	0.79938	CAG		PASS	0.353	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		4	35	4	35	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123974901	123974901	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:123974901G>A	ENST00000306315.5	-	8	4892	c.4457C>T	c.(4456-4458)aCc>aTc	p.T1486I	ZNF608_ENST00000504926.1_Missense_Mutation_p.T1059I|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1486							metal ion binding (GO:0046872)	p.T1486I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCAGCAGAGGTCAAGCCTAA	0.473																																						uc003ktq.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(1)	6						c.(4456-4458)ACC>ATC		zinc finger protein 608							69.0	73.0	72.0					5																	123974901		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123974901G>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4457C>T	5.37:g.123974901G>A	ENSP00000307746:p.Thr1486Ile					ZNF608_uc003ktr.1_RNA|ZNF608_uc003ktp.1_Missense_Mutation_p.T181I	p.T1486I	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	8	4580	-		all_cancers(142;0.186)|Prostate(80;0.081)	1486					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.4457C>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613588	0.87359	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.45276	0.91;0.9	6.0	6.0	0.97389	.	0.110120	0.64402	D	0.000006	T	0.63414	0.2509	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.62020	-0.6942	10	0.72032	D	0.01	-27.4587	20.5062	0.99209	0.0:0.0:1.0:0.0	.	1486	Q9ULD9	ZN608_HUMAN	I	1059;1486	ENSP00000427657:T1059I;ENSP00000307746:T1486I	ENSP00000307746:T1486I	T	-	2	0	ZNF608	124002800	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	2.841000	0.97950	0.637000	0.83480	ACC		PASS	0.473	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		8	8	8	8	---	---	---	---
SLC12A2	6558	broad.mit.edu	37	5	127448533	127448533	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:127448533G>A	ENST00000262461.2	+	2	973	c.784G>A	c.(784-786)Ggg>Agg	p.G262R	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G262R	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	262					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.G262R(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTTTGCAAATGGGGAAGAAAG	0.348																																						uc003kus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(784-786)GGG>AGG		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						109.0	106.0	107.0					5																	127448533		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127448533G>A		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.784G>A	5.37:g.127448533G>A	ENSP00000262461:p.Gly262Arg					SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.G262R	p.G262R	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	2	948	+		all_cancers(142;0.0972)|Prostate(80;0.151)	262			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.784G>A	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141694	0.77775	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.95949	-3.86;-3.86	4.97	4.97	0.65823	Amino acid permease, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97256	0.9103	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.97445	1.0024	10	0.62326	D	0.03	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	262;262	P55011-3;P55011	.;S12A2_HUMAN	R	262	ENSP00000262461:G262R;ENSP00000340878:G262R	ENSP00000262461:G262R	G	+	1	0	SLC12A2	127476432	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.977000	0.76141	2.725000	0.93324	0.557000	0.71058	GGG		PASS	0.348	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		22	35	22	35	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648327	127648327	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:127648327G>A	ENST00000508053.1	-	43	5852	c.4878C>T	c.(4876-4878)agC>agT	p.S1626S	FBN2_ENST00000262464.4_Splice_Site_p.S1626S			P35556	FBN2_HUMAN	fibrillin 2	1626	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1626S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTACTTACTGCTATTGACAG	0.507																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4876-4878)AGC>AGT		fibrillin 2 precursor							196.0	211.0	206.0					5																	127648327		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648327G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4879+1C>T	5.37:g.127648327G>A							p.S1626S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5317	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1626			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4878C>T	CCDS34222.1																																																																																				PASS	0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Silent	81	128	81	128	---	---	---	---
ISOC1	51015	broad.mit.edu	37	5	128440726	128440726	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:128440726C>T	ENST00000173527.5	+	2	403	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	129						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.A129A(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TCAGACCAGCCATCAAGTATT	0.378																																						uc003kva.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)GCC>GCT		isochorismatase domain containing 1							242.0	228.0	233.0					5																	128440726		1877	4123	6000	SO:0001819	synonymous_variant	51015					peroxisome	catalytic activity	g.chr5:128440726C>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.387C>T	5.37:g.128440726C>T							p.A129A	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	2	405	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	129					Q7Z770	Silent	SNP	ENST00000173527.5	37	c.387C>T	CCDS43357.1																																																																																				PASS	0.378	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		24	53	24	53	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128844924	128844924	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:128844924G>A	ENST00000274487.4	+	3	1029	c.884G>A	c.(883-885)gGt>gAt	p.G295D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	295						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G295D(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CATTACTGTGGTATCATTTCA	0.388																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(883-885)GGT>GAT		ADAM metallopeptidase with thrombospondin type 1							108.0	99.0	102.0					5																	128844924		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844924G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.884G>A	5.37:g.128844924G>A	ENSP00000274487:p.Gly295Asp					ADAMTS19_uc003kvc.1_RNA	p.G295D	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	884	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	295			Cysteine switch (By similarity).			Missense_Mutation	SNP	ENST00000274487.4	37	c.884G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886535	0.72410	.	.	ENSG00000145808	ENST00000274487	T	0.67865	-0.29	4.33	4.33	0.51752	.	0.092618	0.46758	D	0.000268	T	0.61664	0.2365	N	0.14661	0.345	0.58432	D	0.999997	D	0.58970	0.984	P	0.53450	0.726	T	0.60984	-0.7154	9	.	.	.	.	18.1251	0.89583	0.0:0.0:1.0:0.0	.	295	Q8TE59	ATS19_HUMAN	D	295	ENSP00000274487:G295D	.	G	+	2	0	ADAMTS19	128872823	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.206000	0.72154	2.694000	0.91930	0.585000	0.79938	GGT		PASS	0.388	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		10	42	10	42	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130828461	130828461	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:130828461G>A	ENST00000509018.1	-	14	1750	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	RAPGEF6_ENST00000510071.1_Silent_p.L515L|RAPGEF6_ENST00000307984.5_Silent_p.L515L|CTC-432M15.3_ENST00000514667.1_Silent_p.L565L|RAPGEF6_ENST00000296859.6_Silent_p.L515L|RAPGEF6_ENST00000512052.1_Silent_p.L230L|RAPGEF6_ENST00000308008.6_Silent_p.L515L|RAPGEF6_ENST00000507093.1_Silent_p.L515L	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	515	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.L515L(3)|p.L565L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAATAACCGGAGATGACCAT	0.378																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1																			4	Substitution - coding silent(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1543-1545)CTC>CTT		PDZ domain-containing guanine nucleotide							55.0	52.0	53.0					5																	130828461		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130828461G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1545C>T	5.37:g.130828461G>A						RAPGEF6_uc003kvp.1_Silent_p.L565L|RAPGEF6_uc003kvo.1_Silent_p.L515L|RAPGEF6_uc010jdi.1_Silent_p.L515L|RAPGEF6_uc010jdj.1_Silent_p.L515L|RAPGEF6_uc003kvq.2_Silent_p.L232L|RAPGEF6_uc003kvr.2_Silent_p.L515L|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Silent_p.L515L	p.L515L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	14	1751	-			515			N-terminal Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.1545C>T	CCDS34225.1																																																																																				PASS	0.378	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		9	19	9	19	---	---	---	---
IL4	3565	broad.mit.edu	37	5	132015469	132015469	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:132015469C>T	ENST00000231449.2	+	3	312	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.H67Y	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	83					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)	p.H83Y(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTACAGCCACCATGAGAAGGA	0.562																																						uc003kxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CAT>TAT		interleukin 4 isoform 1 precursor							90.0	89.0	89.0					5																	132015469		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132015469C>T	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.247C>T	5.37:g.132015469C>T	ENSP00000231449:p.His83Tyr					IL4_uc003kxl.1_Missense_Mutation_p.H67Y	p.H83Y	NM_000589	NP_000580	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	3	617	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	83					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.247C>T	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899556	0.52227	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.51574	0.7;0.7	3.35	1.22	0.21188	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.467820	0.04817	N	0.436231	T	0.66208	0.2766	M	0.69523	2.12	0.09310	N	1	P;P	0.50369	0.828;0.934	D;D	0.72338	0.977;0.977	T	0.42137	-0.9469	10	0.87932	D	0	4.8045	5.8635	0.18762	0.2018:0.4623:0.3359:0.0	.	67;83	Q5FC01;P05112	.;IL4_HUMAN	Y	83;67	ENSP00000231449:H83Y;ENSP00000325190:H67Y	ENSP00000231449:H83Y	H	+	1	0	IL4	132043368	0.071000	0.21146	0.000000	0.03702	0.356000	0.29392	1.499000	0.35671	0.290000	0.22444	0.650000	0.86243	CAT		PASS	0.562	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		19	55	19	55	---	---	---	---
SOWAHA	134548	broad.mit.edu	37	5	132150955	132150955	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:132150955A>G	ENST00000378693.2	+	1	1923	c.1642A>G	c.(1642-1644)Aca>Gca	p.T548A	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	548								p.T548A(1)									TTTTCCTCCAACAACCTGAAG	0.567																																						uc003kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1642-1644)ACA>GCA		ankyrin repeat domain 43 precursor							19.0	21.0	20.0					5																	132150955		2113	4240	6353	SO:0001583	missense	134548							g.chr5:132150955A>G	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1642A>G	5.37:g.132150955A>G	ENSP00000367965:p.Thr548Ala						p.T548A	NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	1923	+		all_cancers(142;0.086)|Breast(839;0.198)	548					Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	c.1642A>G	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.838725	0.32513	.	.	ENSG00000198944	ENST00000378693	T	0.15372	2.43	5.63	-11.3	0.00108	.	1.732920	0.03430	N	0.207595	T	0.04407	0.0121	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23368	-1.0190	10	0.10636	T	0.68	1.1757	2.9988	0.06007	0.1466:0.2889:0.3819:0.1826	.	548	Q2M3V2	ANR43_HUMAN	A	548	ENSP00000367965:T548A	ENSP00000367965:T548A	T	+	1	0	ANKRD43	132178854	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	-0.824000	0.04438	-1.591000	0.01621	0.523000	0.50628	ACA		PASS	0.567	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		8	15	8	15	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692782	135692782	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:135692782C>T	ENST00000513104.1	-	2	576	c.294G>A	c.(292-294)ctG>ctA	p.L98L	TRPC7_ENST00000426057.2_Silent_p.L98L|TRPC7_ENST00000355180.3_Silent_p.L98L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	98					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L98L(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCCTTCTTCAGCAGCAGCT	0.617																																						uc003lbn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(289-291)CTG>CTA		transient receptor potential cation channel,							63.0	72.0	69.0					5																	135692782		2203	4300	6503	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692782C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.294G>A	5.37:g.135692782C>T						TRPC7_uc010jef.1_Silent_p.L89L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.L89L|TRPC7_uc010jei.1_Silent_p.L89L|TRPC7_uc010jej.1_5'UTR	p.L97L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	294	-			98			Cytoplasmic (Potential).|ANK 2.		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.291G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	3.648	-0.072214	0.07228	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.0	-0.35	0.12606	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48937	-0.8990	4	.	.	.	-19.7575	9.6949	0.40152	0.068:0.5348:0.3094:0.0877	.	.	.	.	K	98	.	.	E	-	1	0	TRPC7	135720681	0.957000	0.32711	0.995000	0.50966	0.673000	0.39480	0.146000	0.16180	-0.162000	0.10964	-3.289000	0.00047	GAA		PASS	0.617	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		21	27	21	27	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137682482	137682482	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:137682482C>T	ENST00000239906.5	+	5	1441	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.P338L|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	338								p.P338L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCCCCCCACCCCTCTCTGCT	0.617																																						uc003lcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)CCC>CTC		hypothetical protein LOC51307							39.0	43.0	42.0					5																	137682482		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137682482C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1013C>T	5.37:g.137682482C>T	ENSP00000239906:p.Pro338Leu					FAM53C_uc003lcw.2_Missense_Mutation_p.P338L|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	p.P338L	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	1483	+			338					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.1013C>T	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262105	0.39995	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.44083	0.93;0.93	5.19	2.4	0.29515	.	0.271171	0.36167	N	0.002757	T	0.33323	0.0859	L	0.36672	1.1	0.80722	D	1	B	0.20780	0.048	B	0.14578	0.011	T	0.12993	-1.0526	10	0.54805	T	0.06	-0.876	13.6398	0.62243	0.4029:0.5971:0.0:0.0	.	338	Q9NYF3	FA53C_HUMAN	L	338	ENSP00000403705:P338L;ENSP00000239906:P338L	ENSP00000239906:P338L	P	+	2	0	FAM53C	137710381	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.659000	0.37387	0.318000	0.23185	-0.182000	0.12963	CCC		PASS	0.617	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		8	14	8	14	---	---	---	---
TMEM173	340061	broad.mit.edu	37	5	138860758	138860759	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:138860758_138860759GG>AT	ENST00000330794.4	-	4	729_730	c.396_397CC>AT	c.(394-399)atCCtc>atATtc	p.L133F	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	133					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.L133F(2)|p.I132I(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGCCCAGGAGGATGTTCAGTG	0.599																																						uc003lep.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)	1						c.(397-399)CTC>TTC|c.(394-396)ATC>ATA		transmembrane protein 173																																				SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860758G>A|g.chr5:138860759G>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.396_397delinsAT	5.37:g.138860758_138860759delinsAT	ENSP00000331288:p.Leu133Phe						p.L133F|p.I132I	NM_198282	NP_938023	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	648|647	-			133|132			Helical; (Potential).		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation|Silent	SNP	ENST00000330794.4	37	c.397C>T|c.396C>A	CCDS4215.1																																																																																				PASS	0.599	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		10	28|29	10	28	---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139946784	139946785	+	Silent	DNP	CC	CC	TT	rs374152218		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:139946784_139946785CC>TT	ENST00000514199.1	+	2	1716_1717	c.30_31CC>TT	c.(28-33)ggCCtg>ggTTtg	p.10_11GL>GL	APBB3_ENST00000354402.5_5'Flank|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000412920.3_5'Flank|SLC35A4_ENST00000323146.3_Silent_p.10_11GL>GL|APBB3_ENST00000356738.2_5'Flank|SLC35A4_ENST00000508770.1_3'UTR|APBB3_ENST00000511201.2_5'Flank|APBB3_ENST00000358580.5_5'Flank|APBB3_ENST00000508496.2_5'Flank|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	10						Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)	p.L11L(1)|p.(=)(1)|p.G10G(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATGCCAGGCCTGGGCCGTCC	0.599																																						uc003lgg.1																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)		0						c.(28-30)GGC>GGT|c.(31-33)CTG>TTG		solute carrier family 35, member A4																																				SO:0001819	synonymous_variant	113829					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	g.chr5:139946784C>T|g.chr5:139946785C>T	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	Exception_encountered	5.37:g.139946784_139946785delinsTT						APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Silent_p.G10G|APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Silent_p.L11L	p.G10G|p.L11L	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	758|759	+			10|11					A8K013	Silent	SNP	ENST00000514199.1	37	c.30C>T|c.31C>T	CCDS4231.1																																																																																				PASS	0.599	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670		12|11	26	11	26	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032629	140032629	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140032629C>T	ENST00000417647.2	+	5	443	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	102					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.R102C(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGGGATCGTGCCAAGGA	0.483																																						uc003lgq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(304-306)CGT>TGT		RED protein							92.0	86.0	88.0					5																	140032629		1930	4148	6078	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032629C>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.304C>T	5.37:g.140032629C>T	ENSP00000396301:p.Arg102Cys					IK_uc011czk.1_Missense_Mutation_p.R102C	p.R102C	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	414	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	102					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.304C>T	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252275	0.80135	.	.	ENSG00000113141	ENST00000513256;ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.89946	0.4076	9	0.87932	D	0	.	14.7735	0.69699	0.1444:0.8556:0.0:0.0	.	102;102	Q9UK43;Q13123	.;RED_HUMAN	C	98;102;109;102;102;102	.	ENSP00000261812:R102C	R	+	1	0	IK	140012813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.694000	0.54742	2.820000	0.97059	0.650000	0.86243	CGT		PASS	0.483	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		8	52	8	52	---	---	---	---
HARS2	23438	broad.mit.edu	37	5	140075750	140075750	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140075750C>T	ENST00000230771.3	+	7	919	c.696C>T	c.(694-696)ttC>ttT	p.F232F	HARS2_ENST00000437649.2_Silent_p.F158F|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000435019.2_Silent_p.F192F|HARS2_ENST00000432671.2_Silent_p.F118F|HARS2_ENST00000508522.1_Silent_p.F207F	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	232					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.F232F(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCAAGTTCCGTGCCATCT	0.468																																						uc003lgx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(694-696)TTC>TTT		histidyl-tRNA synthetase 2 precursor							204.0	183.0	190.0					5																	140075750		2203	4300	6503	SO:0001819	synonymous_variant	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140075750C>T	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.696C>T	5.37:g.140075750C>T						HARS2_uc010jfv.1_3'UTR|HARS2_uc011czr.1_Silent_p.F207F|HARS2_uc011czs.1_Silent_p.F88F|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_Intron	p.F232F	NM_012208	NP_036340	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	912	+			232					B4DDY8	Silent	SNP	ENST00000230771.3	37	c.696C>T	CCDS4238.1																																																																																				PASS	0.468	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		8	51	8	51	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167249	140167249	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140167249C>A	ENST00000504120.2	+	1	1374	c.1374C>A	c.(1372-1374)ccC>ccA	p.P458P	PCDHA1_ENST00000378133.3_Silent_p.P458P|PCDHA1_ENST00000394633.3_Silent_p.P458P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	458	Cadherin 5. {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.P458P(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)			TCGCGCAGCCCGAGTACACAG	0.682																																						uc003lhb.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1372-1374)CCC>CCA		protocadherin alpha 1 isoform 1 precursor							66.0	70.0	69.0					5																	140167249		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167249C>A	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.1374C>A	5.37:g.140167249C>A						PCDHA1_uc003lha.2_Silent_p.P458P|PCDHA1_uc003lgz.2_Silent_p.P458P	p.P458P	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1374	+			458			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1374C>A	CCDS54913.1																																																																																				PASS	0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	62	4	62	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167790	140167790	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140167790G>A	ENST00000504120.2	+	1	1915	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E639K|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	639	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.E639K(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)			TGTCCTGGACGAGGCTGACTT	0.647																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1915-1917)GAG>AAG		protocadherin alpha 1 isoform 1 precursor							75.0	80.0	78.0					5																	140167790		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167790G>A	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.1915G>A	5.37:g.140167790G>A	ENSP00000420840:p.Glu639Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E639K	p.E639K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1915	+			639			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1915G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.080875	0.76528	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.50813	0.73;0.73	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.193987	0.24187	U	0.040743	T	0.68833	0.3044	M	0.86864	2.845	0.37410	D	0.913215	D;D	0.69078	0.997;0.983	P;P	0.60173	0.87;0.723	T	0.80917	-0.1168	10	0.87932	D	0	.	15.3477	0.74355	0.0:0.0:1.0:0.0	.	639;639	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	K	639	ENSP00000420840:E639K;ENSP00000367373:E639K	ENSP00000367373:E639K	E	+	1	0	PCDHA1	140147974	1.000000	0.71417	0.403000	0.26384	0.341000	0.28922	4.459000	0.60102	1.645000	0.50612	0.585000	0.79938	GAG		PASS	0.647	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	46	14	46	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175978	140175978	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140175978G>A	ENST00000526136.1	+	1	1429	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V477M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V477M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	477	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V477M(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTTCACGGTGTCAGCGTG	0.652																																						uc003lhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1429-1431)GTG>ATG		protocadherin alpha 2 isoform 1 precursor							71.0	75.0	73.0					5																	140175978		2203	4300	6503	SO:0001583	missense	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175978G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1429G>A	5.37:g.140175978G>A	ENSP00000431748:p.Val477Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V477M|PCDHA2_uc011czy.1_Missense_Mutation_p.V477M	p.V477M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1535	+			477			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1429G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	14.71	2.617403	0.46736	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.57907	0.37;0.37;0.37	3.94	3.04	0.35103	Cadherin (4);Cadherin-like (1);	0.000000	0.35870	U	0.002930	T	0.71082	0.3298	M	0.78344	2.41	0.30194	N	0.799243	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.987;0.997;0.987	T	0.72097	-0.4393	10	0.56958	D	0.05	.	13.5937	0.61975	0.0:0.1573:0.8427:0.0	.	477;477;477	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	M	477	ENSP00000430584:V477M;ENSP00000367372:V477M;ENSP00000431748:V477M	ENSP00000367372:V477M	V	+	1	0	PCDHA2	140156162	0.862000	0.29867	0.948000	0.38648	0.423000	0.31445	1.423000	0.34837	0.748000	0.32831	0.644000	0.83932	GTG		PASS	0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		12	39	12	39	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180932	140180932	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140180932G>A	ENST00000522353.2	+	1	150	c.150G>A	c.(148-150)caG>caA	p.Q50Q	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Q50Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	50	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q50Q(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGCGCAGGACCTGGGGC	0.647																																						uc003lhf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(148-150)CAG>CAA		protocadherin alpha 3 isoform 1 precursor							52.0	62.0	58.0					5																	140180932		2203	4299	6502	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180932G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.150G>A	5.37:g.140180932G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.Q50Q	p.Q50Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	150	+			50			Cadherin 1.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.150G>A	CCDS54915.1																																																																																				PASS	0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		13	36	13	36	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140181435	140181435	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140181435G>A	ENST00000522353.2	+	1	653	c.653G>A	c.(652-654)gGg>gAg	p.G218E	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G218E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G218E(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATGGTGGGAAACCAGAG	0.388																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(652-654)GGG>GAG		protocadherin alpha 3 isoform 1 precursor							61.0	63.0	62.0					5																	140181435		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181435G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.653G>A	5.37:g.140181435G>A	ENSP00000429808:p.Gly218Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G218E	p.G218E	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	653	+			218			Extracellular (Potential).|Cadherin 2.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.653G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.239386	0.79800	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27557	1.66;1.66	4.86	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.000000	0.42294	U	0.000740	T	0.73598	0.3607	H	0.98701	4.305	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.85941	0.1458	10	0.87932	D	0	.	18.3352	0.90285	0.0:0.0:1.0:0.0	.	218;218	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	218	ENSP00000429808:G218E;ENSP00000434086:G218E	ENSP00000429808:G218E	G	+	2	0	PCDHA3	140161619	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.810000	0.99221	2.414000	0.81942	0.467000	0.42956	GGG		PASS	0.388	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		18	25	18	25	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182175	140182175	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140182175A>C	ENST00000522353.2	+	1	1393	c.1393A>C	c.(1393-1395)Aag>Cag	p.K465Q	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.K465Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	465	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K465Q(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTTCGTGAAGGAGAACAA	0.662																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(1393-1395)AAG>CAG		protocadherin alpha 3 isoform 1 precursor							81.0	86.0	84.0					5																	140182175		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182175A>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1393A>C	5.37:g.140182175A>C	ENSP00000429808:p.Lys465Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.K465Q	p.K465Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1393	+			465			Cadherin 5.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1393A>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	17.01	3.280185	0.59758	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52983	0.64;0.64	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	U	0.000529	T	0.47857	0.1468	N	0.25144	0.715	0.24654	N	0.993508	P;D	0.58268	0.875;0.982	P;P	0.57720	0.644;0.826	T	0.39375	-0.9617	10	0.52906	T	0.07	.	11.5269	0.50584	0.8394:0.1606:0.0:0.0	.	465;465	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Q	465	ENSP00000429808:K465Q;ENSP00000434086:K465Q	ENSP00000429808:K465Q	K	+	1	0	PCDHA3	140162359	0.001000	0.12720	1.000000	0.80357	0.937000	0.57800	0.207000	0.17395	1.922000	0.55676	0.378000	0.23410	AAG		PASS	0.662	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		17	43	17	43	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182444	140182444	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140182444C>T	ENST00000522353.2	+	1	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F554F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F554F(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.687																																						uc003lhf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(1660-1662)TTC>TTT		protocadherin alpha 3 isoform 1 precursor							93.0	93.0	93.0					5																	140182444		2203	4297	6500	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182444C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1662C>T	5.37:g.140182444C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.F554F	p.F554F	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1662	+			554			Cadherin 5.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1662C>T	CCDS54915.1																																																																																				PASS	0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		45	54	45	54	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182609	140182609	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140182609T>A	ENST00000522353.2	+	1	1827	c.1827T>A	c.(1825-1827)taT>taA	p.Y609*	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Y609*|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	609	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y609*(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTTCGTATGAGCTGCAGC	0.677																																						uc003lhf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(2)	8						c.(1825-1827)TAT>TAA		protocadherin alpha 3 isoform 1 precursor							94.0	92.0	93.0					5																	140182609		2203	4300	6503	SO:0001587	stop_gained	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182609T>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1827T>A	5.37:g.140182609T>A	ENSP00000429808:p.Tyr609*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Nonsense_Mutation_p.Y609*	p.Y609*	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1827	+			609			Cadherin 6.|Extracellular (Potential).		O75286	Nonsense_Mutation	SNP	ENST00000522353.2	37	c.1827T>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	12.01	1.808392	0.31961	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	.	.	.	4.32	-2.15	0.07102	.	0.257811	0.19989	U	0.101614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.236	0.43284	0.0:0.4263:0.0:0.5737	.	.	.	.	X	609	.	ENSP00000429808:Y609X	Y	+	3	2	PCDHA3	140162793	0.000000	0.05858	0.802000	0.32245	0.102000	0.19082	-2.308000	0.01131	-0.398000	0.07679	-0.375000	0.07067	TAT		PASS	0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		25	28	25	28	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140187398	140187398	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140187398T>G	ENST00000530339.1	+	1	626	c.626T>G	c.(625-627)tTt>tGt	p.F209C	PCDHA4_ENST00000356878.4_Missense_Mutation_p.F209C|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.F209C|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F209C(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGATTTTTTTAGTGCTC	0.453																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(625-627)TTT>TGT		protocadherin alpha 4 isoform 1 precursor							49.0	57.0	54.0					5																	140187398		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187398T>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.626T>G	5.37:g.140187398T>G	ENSP00000435300:p.Phe209Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.F209C|PCDHA4_uc011daa.1_Missense_Mutation_p.F209C	p.F209C	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	727	+			209			Extracellular (Potential).|Cadherin 2.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.626T>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	3.555	-0.090762	0.07053	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51325	0.71;0.71;0.71	4.34	-8.69	0.00855	Cadherin (4);Cadherin-like (1);	1.817870	0.03712	U	0.250433	T	0.34424	0.0897	L	0.34521	1.04	0.09310	N	1	P;P;B	0.50272	0.801;0.933;0.015	B;P;B	0.44597	0.267;0.454;0.005	T	0.54002	-0.8358	10	0.72032	D	0.01	.	6.6064	0.22727	0.7015:0.077:0.0869:0.1346	.	209;209;209	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	C	209	ENSP00000423470:F209C;ENSP00000349344:F209C;ENSP00000435300:F209C	ENSP00000349344:F209C	F	+	2	0	PCDHA4	140167582	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.495000	0.00118	-0.988000	0.03489	-0.691000	0.03719	TTT		PASS	0.453	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		21	32	21	32	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188168	140188168	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140188168G>A	ENST00000530339.1	+	1	1396	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PCDHA4_ENST00000356878.4_Missense_Mutation_p.E466K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E466K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E466K(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGAAGGAGAACAACCC	0.642																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1396-1398)GAG>AAG		protocadherin alpha 4 isoform 1 precursor							56.0	61.0	59.0					5																	140188168		2203	4298	6501	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188168G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1396G>A	5.37:g.140188168G>A	ENSP00000435300:p.Glu466Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.E466K|PCDHA4_uc011daa.1_Missense_Mutation_p.E466K	p.E466K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497	+			466			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1396G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.570812	0.86542	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.76316	-1.01;-1.01;-1.01	4.5	3.59	0.41128	Cadherin (4);Cadherin-like (1);	0.179570	0.26019	N	0.026824	D	0.91788	0.7402	H	0.97758	4.07	0.39109	D	0.961433	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94474	0.7687	10	0.87932	D	0	.	13.7107	0.62667	0.0:0.0:0.8444:0.1556	.	466;466;466	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	466	ENSP00000423470:E466K;ENSP00000349344:E466K;ENSP00000435300:E466K	ENSP00000349344:E466K	E	+	1	0	PCDHA4	140168352	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.459000	0.97638	0.970000	0.38263	0.580000	0.79431	GAG		PASS	0.642	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	31	8	31	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188245	140188245	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140188245C>T	ENST00000530339.1	+	1	1473	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	PCDHA4_ENST00000356878.4_Silent_p.S491S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.S491S|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	491	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S491S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGTCCTACTCGCTGG	0.657																																						uc003lhi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1471-1473)TCC>TCT		protocadherin alpha 4 isoform 1 precursor							60.0	64.0	63.0					5																	140188245		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188245C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1473C>T	5.37:g.140188245C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S491S|PCDHA4_uc011daa.1_Silent_p.S491S	p.S491S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1574	+			491			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1473C>T	CCDS54916.1																																																																																				PASS	0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		6	27	6	27	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188728	140188728	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140188728G>A	ENST00000530339.1	+	1	1956	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	PCDHA4_ENST00000356878.4_Silent_p.K652K|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.K652K|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K652K(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGGTGAAGGACCACGGCG	0.677																																						uc003lhi.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1954-1956)AAG>AAA		protocadherin alpha 4 isoform 1 precursor							71.0	74.0	73.0					5																	140188728		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188728G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1956G>A	5.37:g.140188728G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.K652K|PCDHA4_uc011daa.1_Silent_p.K652K	p.K652K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2057	+			652			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1956G>A	CCDS54916.1																																																																																				PASS	0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		13	55	13	55	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207721	140207721	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140207721C>T	ENST00000529310.1	+	1	159	c.45C>T	c.(43-45)ctC>ctT	p.L15L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.L15L|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	15					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)	calcium ion binding (GO:0005509)	p.L15L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGTCTGCTCCTCCCGCTTC	0.532																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(43-45)CTC>CTT		protocadherin alpha 6 isoform 1 precursor							95.0	109.0	105.0					5																	140207721		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207721C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.45C>T	5.37:g.140207721C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.L15L|PCDHA6_uc011dab.1_Silent_p.L15L	p.L15L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	72	+			15					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.45C>T	CCDS47281.1																																																																																				PASS	0.532	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		27	57	27	57	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209114	140209114	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140209114C>G	ENST00000529310.1	+	1	1552	c.1438C>G	c.(1438-1440)Cga>Gga	p.R480G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R480G|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	480	Cadherin 5. {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)	calcium ion binding (GO:0005509)	p.R480G(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCTGCGCGAGACGCGGA	0.647																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1438-1440)CGA>GGA		protocadherin alpha 6 isoform 1 precursor							46.0	53.0	50.0					5																	140209114		2202	4296	6498	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209114C>G	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1438C>G	5.37:g.140209114C>G	ENSP00000433378:p.Arg480Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R480G|PCDHA6_uc011dab.1_Missense_Mutation_p.R480G	p.R480G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1465	+			480			Cadherin 5.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1438C>G	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097110	0.01843	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01725	4.67;4.67	3.72	0.793	0.18632	Cadherin (4);Cadherin-like (1);	1.274150	0.06310	U	0.702544	T	0.03095	0.0091	M	0.78344	2.41	0.09310	N	1	B;B;B	0.16603	0.004;0.018;0.015	B;B;B	0.27262	0.015;0.078;0.018	T	0.51631	-0.8681	10	0.26408	T	0.33	.	0.373	0.00382	0.227:0.3145:0.2245:0.234	.	480;480;480	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	G	480	ENSP00000433378:R480G;ENSP00000434113:R480G	ENSP00000434113:R480G	R	+	1	2	PCDHA6	140189298	0.000000	0.05858	0.929000	0.37066	0.063000	0.16089	-1.432000	0.02430	0.326000	0.23384	0.313000	0.20887	CGA		PASS	0.647	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		9	34	9	34	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214048	140214048	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140214048G>A	ENST00000525929.1	+	1	80	c.80G>A	c.(79-81)gGg>gAg	p.G27E	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G27E|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	27					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G27E(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAGGCAGGGAGAGGCCAG	0.567																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(79-81)GGG>GAG		protocadherin alpha 7 isoform 1 precursor							55.0	68.0	64.0					5																	140214048		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214048G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.80G>A	5.37:g.140214048G>A	ENSP00000436426:p.Gly27Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.G27E	p.G27E	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	80	+			27					O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.80G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459577	0.12342	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.50813	0.73;0.75	4.21	2.34	0.29019	.	.	.	.	.	T	0.49321	0.1550	M	0.80508	2.5	0.09310	N	0.999999	B;B	0.30889	0.051;0.299	B;B	0.31337	0.114;0.128	T	0.46843	-0.9162	9	0.66056	D	0.02	.	8.7056	0.34351	0.0:0.3097:0.5308:0.1595	.	27;27	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	E	27	ENSP00000436426:G27E;ENSP00000367365:G27E	ENSP00000367365:G27E	G	+	2	0	PCDHA7	140194232	0.017000	0.18338	0.037000	0.18230	0.260000	0.26232	0.329000	0.19698	0.306000	0.22856	0.455000	0.32223	GGG		PASS	0.567	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		6	34	6	34	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140214425C>T	ENST00000525929.1	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	153	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P153S(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(457-459)CCA>TCA		protocadherin alpha 7 isoform 1 precursor							45.0	45.0	45.0					5																	140214425		2203	4291	6494	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214425C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.457C>T	5.37:g.140214425C>T	ENSP00000436426:p.Pro153Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P153S	p.P153S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	457	+			153			Extracellular (Potential).|Cadherin 2.		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.457C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737140	0.49045	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.50001	0.76;0.76	4.04	4.04	0.47022	Cadherin (3);Cadherin-like (1);	0.000000	0.31697	U	0.007216	T	0.62841	0.2461	M	0.66297	2.02	0.27399	N	0.954909	P;P	0.40282	0.711;0.634	B;P	0.54431	0.398;0.752	T	0.60094	-0.7330	10	0.51188	T	0.08	.	16.5697	0.84608	0.0:1.0:0.0:0.0	.	153;153	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	153	ENSP00000436426:P153S;ENSP00000367365:P153S	ENSP00000367365:P153S	P	+	1	0	PCDHA7	140194609	0.032000	0.19561	1.000000	0.80357	0.804000	0.45430	0.691000	0.25467	1.955000	0.56771	0.305000	0.20034	CCA		PASS	0.557	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		20	33	20	33	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140221176	140221176	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140221176C>T	ENST00000531613.1	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.I90I|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I90I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.612																																						uc003lhs.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(268-270)ATC>ATT		protocadherin alpha 8 isoform 1 precursor							68.0	92.0	84.0					5																	140221176		2200	4287	6487	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221176C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.270C>T	5.37:g.140221176C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.I90I	p.I90I	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	270	+			90			Cadherin 1.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.270C>T	CCDS54919.1																																																																																				PASS	0.612	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		27	95	27	95	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222611	140222611	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140222611C>T	ENST00000531613.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R569W|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	569					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R569W(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAGCCTCGGGTGGGTGG	0.721																																						uc003lhs.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1705-1707)CGG>TGG		protocadherin alpha 8 isoform 1 precursor							49.0	55.0	53.0					5																	140222611		2196	4262	6458	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222611C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1705C>T	5.37:g.140222611C>T	ENSP00000434655:p.Arg569Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R569W	p.R569W	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1705	+			569			Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1705C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226184	0.39300	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.64085	-0.08;-0.08	3.71	-4.18	0.03846	Cadherin-like (1);	1.949110	0.03815	N	0.266655	T	0.49184	0.1542	L	0.43646	1.37	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.10450	0.002;0.005	T	0.36359	-0.9751	10	0.49607	T	0.09	.	3.5883	0.07979	0.1001:0.4786:0.1768:0.2445	.	569;569	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	W	569	ENSP00000434655:R569W;ENSP00000367363:R569W	ENSP00000367363:R569W	R	+	1	2	PCDHA8	140202795	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-0.064000	0.11636	-0.477000	0.06832	0.306000	0.20318	CGG		PASS	0.721	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		7	41	7	41	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140222729C>T	ENST00000531613.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S608L|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608L(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.682																																						uc003lhs.2																			4	Substitution - Missense(4)		lung(2)|skin(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1822-1824)TCG>TTG		protocadherin alpha 8 isoform 1 precursor							86.0	85.0	85.0					5																	140222729		2198	4268	6466	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222729C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1823C>T	5.37:g.140222729C>T	ENSP00000434655:p.Ser608Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S608L	p.S608L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1823	+			608			Cadherin 6.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1823C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430583	0.62844	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.54071	0.59;0.59	3.75	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.000000	0.33419	U	0.004940	T	0.69842	0.3156	M	0.80332	2.49	0.28091	N	0.931784	D;D	0.71674	0.998;0.998	D;P	0.62955	0.909;0.852	T	0.66799	-0.5832	10	0.66056	D	0.02	.	13.3725	0.60721	0.0:0.7516:0.2484:0.0	.	608;608	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	608	ENSP00000434655:S608L;ENSP00000367363:S608L	ENSP00000367363:S608L	S	+	2	0	PCDHA8	140202913	.	.	0.883000	0.34634	0.507000	0.33981	.	.	1.793000	0.52555	0.313000	0.20887	TCG		PASS	0.682	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		34	33	34	33	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229200	140229200	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140229200G>T	ENST00000532602.1	+	1	2153	c.1120G>T	c.(1120-1122)Gtg>Ttg	p.V374L	PCDHA9_ENST00000378122.3_Missense_Mutation_p.V374L|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	374	Cadherin 4. {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.V374L(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATTAGTGTGATCGACCT	0.507																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1120-1122)GTG>TTG		protocadherin alpha 9 isoform 1 precursor							125.0	114.0	118.0					5																	140229200		2196	4275	6471	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229200G>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1120G>T	5.37:g.140229200G>T	ENSP00000436042:p.Val374Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V374L	p.V374L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1844	+			374			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1120G>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496659	0.64186	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.54279	0.58;0.58	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.29080	U	0.013218	T	0.59142	0.2172	M	0.88105	2.93	0.09310	N	1	P;P	0.41848	0.572;0.763	B;B	0.42851	0.4;0.309	T	0.61456	-0.7059	10	0.66056	D	0.02	.	7.8958	0.29706	0.1867:0.0:0.8133:0.0	.	374;374	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	374	ENSP00000436042:V374L;ENSP00000367362:V374L	ENSP00000367362:V374L	V	+	1	0	PCDHA9	140209384	1.000000	0.71417	0.028000	0.17463	0.051000	0.14879	4.509000	0.60448	2.153000	0.67306	0.467000	0.42956	GTG		PASS	0.507	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		10	55	10	55	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229371	140229371	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140229371G>A	ENST00000532602.1	+	1	2324	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	PCDHA9_ENST00000378122.3_Missense_Mutation_p.G431S|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	431	Cadherin 4. {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.G431S(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGACGGGGGCTCGCCTTC	0.632																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1291-1293)GGC>AGC		protocadherin alpha 9 isoform 1 precursor							82.0	79.0	80.0					5																	140229371		2196	4270	6466	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229371G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1291G>A	5.37:g.140229371G>A	ENSP00000436042:p.Gly431Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.G431S	p.G431S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2015	+			431			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1291G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576019	0.65878	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.64260	-0.09;-0.09	3.6	3.6	0.41247	Cadherin (5);Cadherin-like (1);	0.000000	0.32002	U	0.006730	D	0.86797	0.6019	H	0.98276	4.19	0.46437	D	0.999045	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92466	0.5981	10	0.87932	D	0	.	15.773	0.78187	0.0:0.0:1.0:0.0	.	431;431	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	S	431	ENSP00000436042:G431S;ENSP00000367362:G431S	ENSP00000367362:G431S	G	+	1	0	PCDHA9	140209555	1.000000	0.71417	0.433000	0.26760	0.068000	0.16541	7.303000	0.78871	1.977000	0.57605	0.313000	0.20887	GGC		PASS	0.632	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		15	56	15	56	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229634	140229634	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140229634C>T	ENST00000532602.1	+	1	2587	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	PCDHA9_ENST00000378122.3_Silent_p.Y518Y|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	518	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.Y518*(2)|p.Y518Y(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.687																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1552-1554)TAC>TAT		protocadherin alpha 9 isoform 1 precursor							57.0	65.0	62.0					5																	140229634		2196	4263	6459	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229634C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1554C>T	5.37:g.140229634C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.Y518Y	p.Y518Y	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2278	+			518			Cadherin 5.|Extracellular (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1554C>T	CCDS54920.1																																																																																				PASS	0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		11	52	11	52	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229833	140229833	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140229833G>A	ENST00000532602.1	+	1	2786	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	PCDHA9_ENST00000378122.3_Missense_Mutation_p.V585M|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	585					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V585M(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCGGTCGGTGGGCGCCGG	0.672																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(1753-1755)GTG>ATG		protocadherin alpha 9 isoform 1 precursor							52.0	59.0	57.0					5																	140229833		2196	4268	6464	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229833G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1753G>A	5.37:g.140229833G>A	ENSP00000436042:p.Val585Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V585M	p.V585M	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2477	+			585			Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1753G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255363	0.39896	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.21191	2.02;2.02	3.63	1.73	0.24493	Cadherin (1);Cadherin-like (1);	0.328653	0.15936	U	0.237445	T	0.26738	0.0654	M	0.76170	2.325	0.09310	N	1	P;B	0.38420	0.63;0.383	B;B	0.42361	0.385;0.066	T	0.14008	-1.0488	10	0.66056	D	0.02	.	6.3439	0.21339	0.1053:0.1857:0.709:0.0	.	585;585	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	585	ENSP00000436042:V585M;ENSP00000367362:V585M	ENSP00000367362:V585M	V	+	1	0	PCDHA9	140210017	0.910000	0.30920	0.139000	0.22197	0.574000	0.36063	5.327000	0.65881	0.277000	0.22141	0.313000	0.20887	GTG		PASS	0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		14	44	14	44	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140235755	140235755	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140235755G>A	ENST00000307360.5	+	1	122	c.122G>A	c.(121-123)gGc>gAc	p.G41D	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G41D|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	41	Cadherin 1. {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)	calcium ion binding (GO:0005509)	p.G41D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGACACGGCACCTTCGTG	0.672																																						uc003lhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(121-123)GGC>GAC		protocadherin alpha 10 isoform 1 precursor							47.0	55.0	53.0					5																	140235755		2195	4269	6464	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140235755G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.122G>A	5.37:g.140235755G>A	ENSP00000304234:p.Gly41Asp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.G41D|PCDHA10_uc011dad.1_Missense_Mutation_p.G41D	p.G41D	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	122	+			41			Extracellular (Potential).|Cadherin 1.		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.122G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654462	0.67472	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.52754	0.65;0.65	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.75287	0.3829	M	0.91510	3.215	0.43559	D	0.99587	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.91635	0.979;0.983;0.999	T	0.82464	-0.0444	9	0.72032	D	0.01	.	17.329	0.87258	0.0:0.0:1.0:0.0	.	41;41;41	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	D	41	ENSP00000421030:G41D;ENSP00000304234:G41D	ENSP00000304234:G41D	G	+	2	0	PCDHA10	140215939	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.367000	0.66127	2.391000	0.81399	0.556000	0.70494	GGC		PASS	0.672	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		14	32	14	32	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140237067	140237067	+	Silent	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140237067G>C	ENST00000307360.5	+	1	1434	c.1434G>C	c.(1432-1434)gcG>gcC	p.A478A	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A478A|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	478	Cadherin 5. {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)	calcium ion binding (GO:0005509)	p.A478A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGTCTGCGTGGGACGCGG	0.662																																						uc003lhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1432-1434)GCG>GCC		protocadherin alpha 10 isoform 1 precursor							91.0	90.0	90.0					5																	140237067		2196	4271	6467	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237067G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1434G>C	5.37:g.140237067G>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A478A|PCDHA10_uc011dad.1_Silent_p.A478A	p.A478A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1434	+			478			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1434G>C	CCDS54921.1																																																																																				PASS	0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		22	50	22	50	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140255160	140255160	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140255160G>A	ENST00000398631.2	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V35I(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTCCGTCTACGAGGA	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GTC>ATC		protocadherin alpha 12 isoform 1 precursor							43.0	49.0	47.0					5																	140255160		2203	4300	6503	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255160G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.103G>A	5.37:g.140255160G>A	ENSP00000381628:p.Val35Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V35I	p.V35I	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	230	+			35			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.103G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	0.911	-0.719032	0.03182	.	.	ENSG00000251664	ENST00000398631	T	0.35789	1.29	5.05	4.17	0.49024	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.18087	0.0434	N	0.20610	0.595	0.09310	N	1	P;B	0.40578	0.722;0.387	B;B	0.31016	0.107;0.123	T	0.05632	-1.0873	9	0.12430	T	0.62	.	9.8597	0.41107	0.1612:0.0:0.8388:0.0	.	35;35	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	35	ENSP00000381628:V35I	ENSP00000381628:V35I	V	+	1	0	PCDHA12	140235344	0.011000	0.17503	0.017000	0.16124	0.053000	0.15095	0.128000	0.15810	1.101000	0.41535	0.655000	0.94253	GTC		PASS	0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		10	15	10	15	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140262269	140262269	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140262269G>A	ENST00000289272.2	+	1	416	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R139Q|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	139	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R139Q(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGAAACGAATAATCATT	0.498																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(415-417)CGA>CAA		protocadherin alpha 13 isoform 1 precursor							106.0	108.0	107.0					5																	140262269		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262269G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.416G>A	5.37:g.140262269G>A	ENSP00000289272:p.Arg139Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R139Q|PCDHA13_uc003lid.2_Missense_Mutation_p.R139Q	p.R139Q	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	416	+			139			Extracellular (Potential).|Cadherin 2.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.416G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	3.042	-0.197245	0.06259	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.38560	1.13;1.13	5.49	-0.173	0.13322	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.26738	0.0654	L	0.42529	1.33	0.09310	N	1	P;B;B	0.38048	0.616;0.412;0.359	B;B;B	0.38803	0.282;0.195;0.201	T	0.13361	-1.0512	9	0.16896	T	0.51	.	0.507	0.00589	0.2851:0.1161:0.2818:0.3171	.	139;139;139	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	Q	139	ENSP00000386821:R139Q;ENSP00000289272:R139Q	ENSP00000289272:R139Q	R	+	2	0	PCDHA13	140242453	0.000000	0.05858	0.005000	0.12908	0.604000	0.37047	-1.783000	0.01770	0.261000	0.21753	0.491000	0.48974	CGA		PASS	0.498	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		18	44	18	44	---	---	---	---
PCDHAC1	56135	broad.mit.edu	37	5	140307343	140307343	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140307343A>T	ENST00000253807.2	+	1	866	c.866A>T	c.(865-867)aAa>aTa	p.K289I	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.K289I	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K289I(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCACCCTAAAAGTGGGGAG	0.547																																						uc003lih.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(865-867)AAA>ATA		protocadherin alpha subfamily C, 1 isoform 1							98.0	87.0	91.0					5																	140307343		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307343A>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.866A>T	5.37:g.140307343A>T	ENSP00000253807:p.Lys289Ile					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.K289I	p.K289I	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1042	+			289			Extracellular (Potential).|Cadherin 3.		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.866A>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.392289	0.25118	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52983	0.64;0.64	5.77	2.13	0.27403	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.36166	0.0957	L	0.33339	1.005	0.09310	N	1	B;B	0.26512	0.151;0.007	B;B	0.30572	0.117;0.015	T	0.30001	-0.9993	9	0.42905	T	0.14	.	7.5497	0.27788	0.6177:0.0:0.3823:0.0	.	289;289	Q9H158;Q9H158-2	PCDC1_HUMAN;.	I	289	ENSP00000386356:K289I;ENSP00000253807:K289I	ENSP00000253807:K289I	K	+	2	0	PCDHAC1	140287527	0.000000	0.05858	0.997000	0.53966	0.754000	0.42855	0.237000	0.17985	0.596000	0.29794	0.459000	0.35465	AAA		PASS	0.547	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		17	26	17	26	---	---	---	---
PCDHAC1	56135	broad.mit.edu	37	5	140308116	140308116	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140308116G>A	ENST00000253807.2	+	1	1639	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D547N	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D547N(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGTGGTAGATAGGAATGA	0.488																																						uc003lih.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1639-1641)GAT>AAT		protocadherin alpha subfamily C, 1 isoform 1							115.0	118.0	117.0					5																	140308116		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308116G>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1639G>A	5.37:g.140308116G>A	ENSP00000253807:p.Asp547Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.D547N	p.D547N	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1815	+			547			Extracellular (Potential).|Cadherin 5.		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1639G>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051383	0.55218	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.03468	3.92;3.92	5.76	5.76	0.90799	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.31327	0.0793	H	0.95574	3.69	0.41318	D	0.987158	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45234	-0.9275	9	0.87932	D	0	.	19.9731	0.97292	0.0:0.0:1.0:0.0	.	547;547	Q9H158;Q9H158-2	PCDC1_HUMAN;.	N	547	ENSP00000386356:D547N;ENSP00000253807:D547N	ENSP00000253807:D547N	D	+	1	0	PCDHAC1	140288300	1.000000	0.71417	0.437000	0.26809	0.024000	0.10985	9.813000	0.99286	2.715000	0.92844	0.563000	0.77884	GAT		PASS	0.488	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		37	51	37	51	---	---	---	---
PCDHAC1	56135	broad.mit.edu	37	5	140308458	140308458	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140308458C>T	ENST00000253807.2	+	1	1981	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.P661S	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P661S(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTCTGTCCCTCAGTTACT	0.493																																						uc003lih.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1981-1983)CCT>TCT		protocadherin alpha subfamily C, 1 isoform 1							113.0	109.0	111.0					5																	140308458		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308458C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1981C>T	5.37:g.140308458C>T	ENSP00000253807:p.Pro661Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.P661S	p.P661S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	+			661			Cadherin 6.|Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1981C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	0.144	-1.099187	0.01843	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52295	0.69;0.67	5.95	3.22	0.36961	Cadherin (2);	.	.	.	.	T	0.46541	0.1398	L	0.28054	0.825	0.21064	N	0.999796	B;D	0.54207	0.023;0.965	B;P	0.57425	0.014;0.82	T	0.32214	-0.9915	9	0.16896	T	0.51	.	11.2412	0.48970	0.0:0.802:0.0:0.198	.	661;661	Q9H158;Q9H158-2	PCDC1_HUMAN;.	S	661	ENSP00000386356:P661S;ENSP00000253807:P661S	ENSP00000253807:P661S	P	+	1	0	PCDHAC1	140288642	0.054000	0.20591	0.064000	0.19789	0.092000	0.18411	0.505000	0.22642	0.409000	0.25649	0.563000	0.77884	CCT		PASS	0.493	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		13	39	13	39	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346534	140346534	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140346534G>A	ENST00000289269.5	+	1	715	c.183G>A	c.(181-183)gtG>gtA	p.V61V	PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V61V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAACGTGGCTCGCGCGC	0.692																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(181-183)GTG>GTA		protocadherin alpha subfamily C, 2 isoform 1							10.0	12.0	11.0					5																	140346534		2125	4191	6316	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346534G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.183G>A	5.37:g.140346534G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.V61V	p.V61V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	423	+			61			Cadherin 1.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.183G>A	CCDS4242.1																																																																																				PASS	0.692	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		3	3	3	3	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432413	140432413	+	Missense_Mutation	SNP	G	G	A	rs199588864		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140432413G>A	ENST00000306549.3	+	1	1435	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	453					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R453Q(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATATTTCGGGAAGATTCC	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22508	0.0		0.0	False		,,,				2504	0.0					uc003lik.1																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(1357-1359)CGG>CAG		protocadherin beta 1 precursor							87.0	85.0	86.0					5																	140432413		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432413G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1358G>A	5.37:g.140432413G>A	ENSP00000307234:p.Arg453Gln						p.R453Q	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1435	+			453			Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1358G>A	CCDS4243.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.20	1.569465	0.28003	.	.	ENSG00000171815	ENST00000306549	T	0.01725	4.67	6.17	-1.09	0.09904	Cadherin (3);Cadherin-like (1);	0.980375	0.08279	N	0.970168	T	0.00906	0.0030	N	0.02368	-0.58	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47018	-0.9149	10	0.48119	T	0.1	.	5.4374	0.16488	0.4996:0.3402:0.0656:0.0946	.	453	Q9Y5F3	PCDB1_HUMAN	Q	453	ENSP00000307234:R453Q	ENSP00000307234:R453Q	R	+	2	0	PCDHB1	140412597	0.000000	0.05858	0.991000	0.47740	0.977000	0.68977	-0.904000	0.04080	0.163000	0.19507	-0.302000	0.09304	CGG		PASS	0.438	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		31	36	31	36	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475885	140475885	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140475885C>T	ENST00000194155.4	+	1	1659	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S504F(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.687																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1510-1512)TCC>TTC		protocadherin beta 2 precursor							70.0	75.0	73.0					5																	140475885		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475885C>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1511C>T	5.37:g.140475885C>T	ENSP00000194155:p.Ser504Phe					PCDHB2_uc003lim.1_Missense_Mutation_p.S165F	p.S504F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1649	+			504			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1511C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176837	0.57692	.	.	ENSG00000112852	ENST00000194155	T	0.03181	4.02	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.24547	0.0595	M	0.91972	3.26	0.43355	D	0.995421	D	0.89917	1.0	D	0.76071	0.987	T	0.18461	-1.0336	9	0.87932	D	0	.	16.4225	0.83771	0.0:1.0:0.0:0.0	.	504	Q9Y5E7	PCDB2_HUMAN	F	504	ENSP00000194155:S504F	ENSP00000194155:S504F	S	+	2	0	PCDHB2	140456069	0.065000	0.20965	0.017000	0.16124	0.874000	0.50279	2.318000	0.43779	2.223000	0.72356	0.556000	0.70494	TCC		PASS	0.687	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		23	46	23	46	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140480792	140480792	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140480792G>A	ENST00000231130.2	+	1	559	c.559G>A	c.(559-561)Gac>Aac	p.D187N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D187N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCGTAGGGACGGAAGGAA	0.552																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(559-561)GAC>AAC		protocadherin beta 3 precursor							83.0	81.0	82.0					5																	140480792		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480792G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.559G>A	5.37:g.140480792G>A	ENSP00000231130:p.Asp187Asn					uc003lin.2_Intron	p.D187N	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	559	+			187			Extracellular (Potential).|Cadherin 2.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.559G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577373	0.86645	.	.	ENSG00000113205	ENST00000231130	T	0.19938	2.11	5.08	5.08	0.68730	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49949	0.1587	M	0.80982	2.52	0.44373	D	0.997273	D	0.67145	0.996	D	0.70016	0.967	T	0.53136	-0.8481	9	0.54805	T	0.06	.	18.4806	0.90809	0.0:0.0:1.0:0.0	.	187	Q9Y5E6	PCDB3_HUMAN	N	187	ENSP00000231130:D187N	ENSP00000231130:D187N	D	+	1	0	PCDHB3	140460976	0.983000	0.35010	0.301000	0.25044	0.920000	0.55202	3.460000	0.53028	2.515000	0.84797	0.655000	0.94253	GAC		PASS	0.552	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		27	50	27	50	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502125	140502125	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140502125G>A	ENST00000194152.1	+	1	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	182	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R182Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCACTCGAAATCATAGT	0.463																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(544-546)CGA>CAA		protocadherin beta 4 precursor							63.0	63.0	63.0					5																	140502125		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502125G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.545G>A	5.37:g.140502125G>A	ENSP00000194152:p.Arg182Gln						p.R182Q	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	545	+			182			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.545G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037320	0.19669	.	.	ENSG00000081818	ENST00000194152	T	0.20069	2.1	4.56	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11793	0.0287	N	0.17838	0.53	0.09310	N	1	B	0.27791	0.189	B	0.31245	0.126	T	0.34477	-0.9827	9	0.09084	T	0.74	.	6.9756	0.24672	0.3707:0.0:0.6293:0.0	.	182	Q9Y5E5	PCDB4_HUMAN	Q	182	ENSP00000194152:R182Q	ENSP00000194152:R182Q	R	+	2	0	PCDHB4	140482309	0.000000	0.05858	0.953000	0.39169	0.932000	0.56968	0.768000	0.26590	1.270000	0.44297	0.655000	0.94253	CGA		PASS	0.463	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		9	23	9	23	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531103	140531103	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140531103C>T	ENST00000231136.1	+	1	1265	c.1265C>T	c.(1264-1266)aCt>aTt	p.T422I	PCDHB6_ENST00000543635.1_Missense_Mutation_p.T286I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T422I(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCACGGTCACTGATTTGGGG	0.527																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1264-1266)ACT>ATT		protocadherin beta 6 precursor							122.0	122.0	122.0					5																	140531103		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531103C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1265C>T	5.37:g.140531103C>T	ENSP00000231136:p.Thr422Ile					PCDHB6_uc011dah.1_Missense_Mutation_p.T286I	p.T422I	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1265	+			422			Cadherin 4.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1265C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	1.464	-0.561575	0.03939	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.03358	3.96;3.96	4.59	1.62	0.23740	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07458	0.0188	M	0.85373	2.75	0.09310	N	1	B	0.18610	0.029	B	0.29077	0.098	T	0.40001	-0.9586	9	0.87932	D	0	.	2.0205	0.03508	0.2749:0.4386:0.1337:0.1527	.	422	Q9Y5E3	PCDB6_HUMAN	I	286;422;207	ENSP00000438466:T286I;ENSP00000231136:T422I	ENSP00000231136:T422I	T	+	2	0	PCDHB6	140511287	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.969000	0.03813	0.072000	0.16694	0.561000	0.74099	ACT		PASS	0.527	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		16	55	16	55	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531131	140531131	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140531131C>T	ENST00000231136.1	+	1	1293	c.1293C>T	c.(1291-1293)acC>acT	p.T431T	PCDHB6_ENST00000543635.1_Silent_p.T295T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T431T(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGAAAACCCAGCAGAGCA	0.562																																						uc003lir.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1291-1293)ACC>ACT		protocadherin beta 6 precursor							129.0	129.0	129.0					5																	140531131		2203	4300	6503	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531131C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1293C>T	5.37:g.140531131C>T						PCDHB6_uc011dah.1_Silent_p.T295T	p.T431T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1293	+			431			Cadherin 4.|Extracellular (Potential).		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1293C>T	CCDS4248.1																																																																																				PASS	0.562	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		33	44	33	44	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553593	140553593	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140553593C>T	ENST00000231137.3	+	1	1351	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	393	Cadherin 4. {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.L393L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTCATCCTGAAGCCATC	0.483																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1177-1179)CTG>TTG		protocadherin beta 7 precursor							74.0	75.0	75.0					5																	140553593		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553593C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1177C>T	5.37:g.140553593C>T							p.L393L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1351	+			393			Extracellular (Potential).|Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1177C>T	CCDS4249.1																																																																																				PASS	0.483	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		10	49	10	49	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553821	140553821	+	Missense_Mutation	SNP	C	C	T	rs537962431		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140553821C>T	ENST00000231137.3	+	1	1579	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	469	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.P469S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCGCCCTGCCCATCGGCAG	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17966	0.0		0.0	False		,,,				2504	0.0					uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1405-1407)CCC>TCC		protocadherin beta 7 precursor							112.0	111.0	112.0					5																	140553821		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553821C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1405C>T	5.37:g.140553821C>T	ENSP00000231137:p.Pro469Ser						p.P469S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1579	+			469			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1405C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	9.101	1.004077	0.19199	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01119	5.31	4.44	4.44	0.53790	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00724	0.0024	N	0.03177	-0.4	0.21967	N	0.999444	B	0.19331	0.035	B	0.22601	0.04	T	0.49579	-0.8925	9	0.15499	T	0.54	.	8.7331	0.34512	0.0:0.8235:0.0:0.1765	.	469	Q9Y5E2	PCDB7_HUMAN	S	469;252	ENSP00000231137:P469S	ENSP00000231137:P469S	P	+	1	0	PCDHB7	140534005	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.022000	0.13511	2.170000	0.68504	0.552000	0.68991	CCC		PASS	0.632	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		50	80	50	80	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140558451C>T	ENST00000239444.2	+	1	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	279	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S279F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATTTCCTATTCACTT	0.413																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(835-837)TCC>TTC		protocadherin beta 8 precursor							166.0	229.0	208.0					5																	140558451		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558451C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.836C>T	5.37:g.140558451C>T	ENSP00000239444:p.Ser279Phe					PCDHB16_uc003liv.2_5'Flank	p.S279F	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1022	+			279			Cadherin 3.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.836C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874512	0.17395	.	.	ENSG00000120322	ENST00000239444	T	0.52057	0.68	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49440	0.1557	M	0.70275	2.135	0.09310	N	1	B	0.23990	0.095	B	0.30105	0.111	T	0.48958	-0.8988	9	0.59425	D	0.04	.	10.0596	0.42266	0.0:0.905:0.0:0.095	.	279	Q9UN66	PCDB8_HUMAN	F	279	ENSP00000239444:S279F	ENSP00000239444:S279F	S	+	2	0	PCDHB8	140538635	0.000000	0.05858	0.469000	0.27204	0.443000	0.32047	-0.995000	0.03712	1.911000	0.55334	0.585000	0.79938	TCC		PASS	0.413	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		22	115	22	115	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572150	140572150	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140572150C>T	ENST00000239446.4	+	1	209	c.25C>T	c.(25-27)Cca>Tca	p.P9S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	9					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.P9S(1)|p.P9T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGTGCTTCCCAAGACAAAG	0.473																																						uc003lix.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(25-27)CCA>TCA		protocadherin beta 10 precursor							112.0	117.0	116.0					5																	140572150		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572150C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.25C>T	5.37:g.140572150C>T	ENSP00000239446:p.Pro9Ser						p.P9S	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	199	+			9					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.25C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	6.911	0.537686	0.13188	.	.	ENSG00000120324	ENST00000239446	T	0.45276	0.9	3.01	-4.91	0.03085	.	.	.	.	.	T	0.20536	0.0494	N	0.13043	0.29	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.38067	-0.9678	9	0.08599	T	0.76	.	12.489	0.55889	0.0:0.2368:0.0:0.7632	.	9	Q9UN67	PCDBA_HUMAN	S	9	ENSP00000239446:P9S	ENSP00000239446:P9S	P	+	1	0	PCDHB10	140552334	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-0.576000	0.05854	-1.418000	0.02014	-1.127000	0.01993	CCA		PASS	0.473	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		27	47	27	47	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573133	140573133	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140573133A>T	ENST00000239446.4	+	1	1192	c.1008A>T	c.(1006-1008)gaA>gaT	p.E336D		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	336	Cadherin 3. {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.E336D(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTAGTGGAAGTATTGGACA	0.408																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1006-1008)GAA>GAT		protocadherin beta 10 precursor							97.0	98.0	98.0					5																	140573133		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573133A>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1008A>T	5.37:g.140573133A>T	ENSP00000239446:p.Glu336Asp						p.E336D	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1182	+			336			Extracellular (Potential).|Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1008A>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	A	2.327	-0.354312	0.05173	.	.	ENSG00000120324	ENST00000239446	T	0.01745	4.66	3.41	-0.124	0.13523	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.20401	0.57	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47058	-0.9146	9	0.38643	T	0.18	.	4.5028	0.11872	0.5043:0.0:0.3452:0.1506	.	336	Q9UN67	PCDBA_HUMAN	D	336	ENSP00000239446:E336D	ENSP00000239446:E336D	E	+	3	2	PCDHB10	140553317	0.000000	0.05858	0.008000	0.14137	0.296000	0.27459	-5.036000	0.00158	-0.094000	0.12374	-0.375000	0.07067	GAA		PASS	0.408	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		13	53	13	53	---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140579777	140579777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140579777G>T	ENST00000354757.3	+	1	430	c.430G>T	c.(430-432)Gag>Tag	p.E144*	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E144*(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAATCCCAGAGAACAGTCC	0.423																																						uc003liy.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(430-432)GAG>TAG		protocadherin beta 11 precursor							117.0	130.0	126.0					5																	140579777		2203	4300	6503	SO:0001587	stop_gained	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579777G>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.430G>T	5.37:g.140579777G>T	ENSP00000346802:p.Glu144*					PCDHB11_uc011daj.1_Intron	p.E144*	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	430	+			144			Extracellular (Potential).|Cadherin 2.		B4DSF7|Q2M223	Nonsense_Mutation	SNP	ENST00000354757.3	37	c.430G>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462144	0.96240	.	.	ENSG00000197479	ENST00000354757	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.6368	0.62227	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000346802:E144X	E	+	1	0	PCDHB11	140559961	1.000000	0.71417	0.011000	0.14972	0.975000	0.68041	9.185000	0.94900	1.558000	0.49541	0.467000	0.42956	GAG		PASS	0.423	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		32	123	32	123	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588952	140588952	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140588952A>T	ENST00000239450.2	+	1	662	c.473A>T	c.(472-474)aAg>aTg	p.K158M	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K158M(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGTGCAAAGGATTTAGAT	0.373																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(472-474)AAG>ATG		protocadherin beta 12 precursor							81.0	83.0	83.0					5																	140588952		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588952A>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.473A>T	5.37:g.140588952A>T	ENSP00000239450:p.Lys158Met					PCDHB12_uc011dak.1_Intron	p.K158M	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	662	+			158			Extracellular (Potential).|Cadherin 2.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.473A>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320869	0.23994	.	.	ENSG00000120328	ENST00000239450	T	0.52754	0.65	4.29	-1.7	0.08159	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35335	0.0928	L	0.27053	0.805	0.09310	N	0.999999	P	0.45283	0.855	P	0.48488	0.579	T	0.24404	-1.0161	9	0.62326	D	0.03	.	2.1834	0.03880	0.5282:0.1339:0.0788:0.2591	.	158	Q9Y5F1	PCDBC_HUMAN	M	158	ENSP00000239450:K158M	ENSP00000239450:K158M	K	+	2	0	PCDHB12	140569136	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.148000	0.16224	-0.110000	0.12022	0.482000	0.46254	AAG		PASS	0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		11	46	11	46	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589097	140589097	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140589097G>A	ENST00000239450.2	+	1	807	c.618G>A	c.(616-618)ccG>ccA	p.P206P	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P206P(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAGCGCCCGGAGCTCAGTT	0.498																																						uc003liz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(616-618)CCG>CCA		protocadherin beta 12 precursor							66.0	67.0	66.0					5																	140589097		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589097G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.618G>A	5.37:g.140589097G>A						PCDHB12_uc011dak.1_Intron	p.P206P	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	807	+			206			Extracellular (Potential).|Cadherin 2.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.618G>A	CCDS4254.1																																																																																				PASS	0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		8	27	8	27	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710553	140710553	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140710553C>T	ENST00000517417.1	+	1	302	c.302C>T	c.(301-303)cCg>cTg	p.P101L	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P101L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P101L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCATGCCGTGTCTCGTG	0.468																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(301-303)CCG>CTG		protocadherin gamma subfamily A, 1 isoform 1							109.0	122.0	117.0					5																	140710553		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710553C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.302C>T	5.37:g.140710553C>T	ENSP00000431083:p.Pro101Leu					PCDHGA1_uc011dan.1_Missense_Mutation_p.P101L	p.P101L	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	302	+			101			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.302C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.197965	0.01594	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.29917	1.55;1.55	4.37	-0.652	0.11450	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.952848	0.08605	N	0.920870	T	0.22742	0.0549	L	0.39898	1.24	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.15484	0.005;0.013	T	0.29458	-1.0011	10	0.37606	T	0.19	.	6.5928	0.22656	0.3462:0.4766:0.1771:0.0	.	101;101	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	101	ENSP00000431083:P101L;ENSP00000367345:P101L	ENSP00000367345:P101L	P	+	2	0	PCDHGA1	140690737	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.662000	0.01970	-0.034000	0.13713	0.655000	0.94253	CCG		PASS	0.468	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		29	89	29	89	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724155	140724155	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140724155C>T	ENST00000253812.6	+	1	555	c.555C>T	c.(553-555)gtC>gtT	p.V185V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V185V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATAGCGTCTCTGAGGGGG	0.512																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(553-555)GTC>GTT		protocadherin gamma subfamily A, 3 isoform 1							74.0	75.0	75.0					5																	140724155		2034	4207	6241	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724155C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.555C>T	5.37:g.140724155C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.V185V	p.V185V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	555	+			185			Extracellular (Potential).|Cadherin 2.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.555C>T	CCDS47290.1																																																																																				PASS	0.512	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		42	60	42	60	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724881	140724881	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140724881G>A	ENST00000253812.6	+	1	1281	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	427	Cadherin 4. {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.G427G(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGATGGGGGAAGCCCGC	0.468																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1279-1281)GGG>GGA		protocadherin gamma subfamily A, 3 isoform 1							63.0	72.0	69.0					5																	140724881		2029	4201	6230	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724881G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1281G>A	5.37:g.140724881G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.G187G|PCDHGA3_uc011dap.1_Silent_p.G427G	p.G427G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1281	+			427			Cadherin 4.|Extracellular (Potential).		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1281G>A	CCDS47290.1																																																																																				PASS	0.468	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		29	50	29	50	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725985	140725985	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140725985G>A	ENST00000253812.6	+	1	2385	c.2385G>A	c.(2383-2385)caG>caA	p.Q795Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	795					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q795Q(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAACTCAGGATTTACTTG	0.418																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(2383-2385)CAG>CAA		protocadherin gamma subfamily A, 3 isoform 1							69.0	77.0	74.0					5																	140725985		2202	4300	6502	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725985G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2385G>A	5.37:g.140725985G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.Q555Q|PCDHGA3_uc011dap.1_Silent_p.Q795Q	p.Q795Q	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2385	+			795			Cytoplasmic (Potential).		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.2385G>A	CCDS47290.1																																																																																				PASS	0.418	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		28	45	28	45	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140731289	140731289	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140731289C>T	ENST00000523390.1	+	1	1462	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	488	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.L488L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCTATTCTGGCCAGTGA	0.637																																						uc003ljo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1462-1464)CTG>TTG		protocadherin gamma subfamily B, 1 isoform 1							36.0	41.0	39.0					5																	140731289		1967	4152	6119	SO:0001819	synonymous_variant	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140731289C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1462C>T	5.37:g.140731289C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.L488L	p.L488L	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1462	+			488			Extracellular (Potential).|Cadherin 5.		Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1462C>T	CCDS54923.1																																																																																				PASS	0.637	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		12	20	12	20	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736714	140736714	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140736714T>A	ENST00000571252.1	+	1	1947	c.1947T>A	c.(1945-1947)caT>caA	p.H649Q	PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCATGGCCAGCCCC	0.642																																						uc003ljq.1																			0					0						c.(1945-1947)CAT>CAA		protocadherin gamma subfamily A, 4 isoform 1							24.0	30.0	28.0					5																	140736714		2194	4288	6482	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736714T>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1947T>A	5.37:g.140736714T>A	ENSP00000458570:p.His649Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.H649Q|PCDHGB2_uc011dar.1_5'Flank	p.H649Q	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1947	+			649			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1947T>A	CCDS58979.1																																																																																				PASS	0.642	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		12	12	12	12	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741210	140741210	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140741210C>T	ENST00000522605.1	+	1	1508	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	503	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.S503F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATTTTATCCTACGTGTCC	0.622																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1507-1509)TCC>TTC		protocadherin gamma subfamily B, 2 isoform 1							36.0	39.0	38.0					5																	140741210		1945	4138	6083	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741210C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1508C>T	5.37:g.140741210C>T	ENSP00000429018:p.Ser503Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.S503F|PCDHGA5_uc011das.1_5'Flank	p.S503F	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+			503			Extracellular (Potential).|Cadherin 5.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1508C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.88	2.367824	0.42003	.	.	ENSG00000253910	ENST00000522605	T	0.52754	0.65	5.18	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75474	0.3854	M	0.92691	3.335	0.32696	N	0.513487	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85522	0.1204	9	0.87932	D	0	.	14.8834	0.70550	0.1451:0.8549:0.0:0.0	.	503;503	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	F	503	ENSP00000429018:S503F	ENSP00000429018:S503F	S	+	2	0	PCDHGB2	140721394	1.000000	0.71417	0.995000	0.50966	0.009000	0.06853	4.380000	0.59581	1.268000	0.44264	0.467000	0.42956	TCC		PASS	0.622	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		13	26	13	26	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745898	140745898	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140745898G>A	ENST00000518069.1	+	1	2001	c.2001G>A	c.(1999-2001)agG>agA	p.R667R	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R667R(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)			TGGCCGACAGGATCCCTGACA	0.607																																						uc003lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1999-2001)AGG>AGA		protocadherin gamma subfamily A, 5 isoform 1							204.0	220.0	215.0					5																	140745898		2202	4300	6502	SO:0001819	synonymous_variant	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140745898G>A	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.2001G>A	5.37:g.140745898G>A						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_Silent_p.R667R	p.R667R	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2001	+			667			Cadherin 6.|Extracellular (Potential).		Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2001G>A	CCDS54925.1																																																																																				PASS	0.607	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		93	140	93	140	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140750391	140750391	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140750391G>A	ENST00000576222.1	+	1	561	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATCAGCGAACTGGCTCT	0.473																																						uc003ljw.1																			0					0						c.(430-432)GAA>AAA		protocadherin gamma subfamily B, 3 isoform 1							145.0	145.0	145.0					5																	140750391		1973	4150	6123	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750391G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.430G>A	5.37:g.140750391G>A	ENSP00000461862:p.Glu144Lys					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_uc011dat.1_Missense_Mutation_p.E144K	p.E144K	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	430	+			144			Extracellular (Potential).|Cadherin 2.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.430G>A	CCDS58980.1																																																																																				PASS	0.473	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		31	125	31	125	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140750795	140750795	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140750795C>T	ENST00000576222.1	+	1	965	c.834C>T	c.(832-834)atC>atT	p.I278I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAAATCATCTATGCCTTCA	0.468																																						uc003ljw.1																			0					0						c.(832-834)ATC>ATT		protocadherin gamma subfamily B, 3 isoform 1							120.0	125.0	123.0					5																	140750795		2081	4222	6303	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750795C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.834C>T	5.37:g.140750795C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.I278I|PCDHGA6_uc011dau.1_5'Flank	p.I278I	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	834	+			278			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.834C>T	CCDS58980.1																																																																																				PASS	0.468	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		52	83	52	83	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751743	140751743	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140751743G>A	ENST00000576222.1	+	1	1913	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCGGTGGACGCAGACT	0.662																																						uc003ljw.1																			0					0						c.(1780-1782)GTG>GTA		protocadherin gamma subfamily B, 3 isoform 1							62.0	71.0	68.0					5																	140751743		2203	4300	6503	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751743G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1782G>A	5.37:g.140751743G>A						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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.V594V|PCDHGA6_uc011dau.1_5'Flank	p.V594V	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1782	+			594			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1782G>A	CCDS58980.1																																																																																				PASS	0.662	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		8	45	8	45	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751831	140751831	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140751831G>A	ENST00000576222.1	+	1	2001	c.1870G>A	c.(1870-1872)Ggt>Agt	p.G624S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	624	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGCACGGGTGAGGTGCG	0.687																																						uc003ljw.1																			0					0						c.(1870-1872)GGT>AGT		protocadherin gamma subfamily B, 3 isoform 1							41.0	48.0	45.0					5																	140751831		2187	4277	6464	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751831G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1870G>A	5.37:g.140751831G>A	ENSP00000461862:p.Gly624Ser					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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G624S|PCDHGA6_uc011dau.1_5'Flank	p.G624S	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1870	+			624			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1870G>A	CCDS58980.1																																																																																				PASS	0.687	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		23	28	23	28	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140754622	140754622	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140754622G>A	ENST00000517434.1	+	1	972	c.972G>A	c.(970-972)ggG>ggA	p.G324G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	324	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G324G(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGGATGGGCCAGGTCTTC	0.413																																						uc003ljy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(970-972)GGG>GGA		protocadherin gamma subfamily A, 6 isoform 1							147.0	152.0	150.0					5																	140754622		1868	4092	5960	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754622G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.972G>A	5.37:g.140754622G>A						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_uc011dau.1_Silent_p.G324G	p.G324G	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	972	+			324			Cadherin 3.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.972G>A	CCDS54926.1																																																																																				PASS	0.413	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		30	92	30	92	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140754633	140754633	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140754633G>A	ENST00000517434.1	+	1	983	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R328Q(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTCTTCGAGACAGAGCG	0.423																																						uc003ljy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(982-984)CGA>CAA		protocadherin gamma subfamily A, 6 isoform 1							151.0	157.0	155.0					5																	140754633		1877	4099	5976	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140754633G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.983G>A	5.37:g.140754633G>A	ENSP00000429601:p.Arg328Gln					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_uc011dau.1_Missense_Mutation_p.R328Q	p.R328Q	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	983	+			328			Cadherin 3.|Extracellular (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.983G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	5.008	0.187100	0.09547	.	.	ENSG00000253731	ENST00000517434	T	0.51071	0.72	5.25	-2.91	0.05631	Cadherin (5);Cadherin-like (1);	3.053800	0.03411	N	0.204832	T	0.28001	0.0690	N	0.25647	0.755	0.09310	N	1	B;B	0.15473	0.01;0.013	B;B	0.13407	0.009;0.007	T	0.04870	-1.0921	10	0.15952	T	0.53	.	1.0688	0.01616	0.1875:0.2178:0.1573:0.4373	.	328;328	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	Q	328	ENSP00000429601:R328Q	ENSP00000429601:R328Q	R	+	2	0	PCDHGA6	140734817	0.000000	0.05858	0.557000	0.28306	0.646000	0.38490	-1.107000	0.03316	-0.616000	0.05671	-0.182000	0.12963	CGA		PASS	0.423	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		29	92	29	92	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755921	140755921	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140755921C>T	ENST00000517434.1	+	1	2271	c.2271C>T	c.(2269-2271)gtC>gtT	p.V757V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V757V(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACGAGGTCTCACTCACTG	0.577																																						uc003ljy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(2269-2271)GTC>GTT		protocadherin gamma subfamily A, 6 isoform 1							91.0	94.0	93.0					5																	140755921		2203	4300	6503	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755921C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2271C>T	5.37:g.140755921C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.V757V	p.V757V	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2271	+			757			Cytoplasmic (Potential).		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.2271C>T	CCDS54926.1																																																																																				PASS	0.577	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		30	50	30	50	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762560	140762560	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140762560C>T	ENST00000518325.1	+	1	94	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	32	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L32F(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACGTATTCTCTACTCCGT	0.657																																						uc003lka.1																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)CTC>TTC		protocadherin gamma subfamily A, 7 isoform 1							44.0	53.0	50.0					5																	140762560		2008	4200	6208	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762560C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.94C>T	5.37:g.140762560C>T	ENSP00000430024:p.Leu32Phe					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_uc003ljz.1_Missense_Mutation_p.L32F	p.L32F	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	94	+			32			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.94C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	4.578	0.107400	0.08780	.	.	ENSG00000253537	ENST00000518325	T	0.27402	1.67	5.06	2.23	0.28157	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.28566	0.0707	L	0.47190	1.495	0.21527	N	0.999655	B;B	0.12630	0.006;0.002	B;B	0.20577	0.03;0.005	T	0.28267	-1.0049	9	0.87932	D	0	.	10.4088	0.44280	0.0:0.6778:0.2518:0.0705	.	32;32	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	F	32	ENSP00000430024:L32F	ENSP00000430024:L32F	L	+	1	0	PCDHGA7	140742744	.	.	0.264000	0.24511	0.002000	0.02628	.	.	0.223000	0.20920	-0.176000	0.13171	CTC		PASS	0.657	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		9	29	9	29	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762865	140762865	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140762865C>T	ENST00000518325.1	+	1	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	133	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F133F(1)|p.F133L(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAAGATTCTTGACGGAAG	0.418																																						uc003lka.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(397-399)TTC>TTT		protocadherin gamma subfamily A, 7 isoform 1							62.0	68.0	66.0					5																	140762865		1919	4140	6059	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762865C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.399C>T	5.37:g.140762865C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.F133F	p.F133F	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	399	+			133			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.399C>T	CCDS54927.1																																																																																				PASS	0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		31	30	31	30	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763547	140763547	+	Missense_Mutation	SNP	C	C	T	rs145468093	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140763547C>T	ENST00000518325.1	+	1	1081	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	361	Cadherin 4. {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.P361S(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGACACACCTCTTGGGAC	0.403																																						uc003lka.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)CCT>TCT		protocadherin gamma subfamily A, 7 isoform 1							57.0	56.0	57.0					5																	140763547		1966	4164	6130	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763547C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1081C>T	5.37:g.140763547C>T	ENSP00000430024:p.Pro361Ser					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_uc003ljz.1_Missense_Mutation_p.P361S	p.P361S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1081	+			361			Cadherin 4.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1081C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	6.913	0.538110	0.13188	.	.	ENSG00000253537	ENST00000518325	T	0.01572	4.76	5.3	1.47	0.22746	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.02610	0.0079	M	0.69823	2.125	0.09310	N	1	B;B	0.29612	0.016;0.251	B;B	0.30855	0.084;0.121	T	0.41645	-0.9497	9	0.37606	T	0.19	.	3.141	0.06456	0.1229:0.5483:0.1195:0.2093	.	361;361	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	361	ENSP00000430024:P361S	ENSP00000430024:P361S	P	+	1	0	PCDHGA7	140743731	0.000000	0.05858	0.744000	0.31058	0.844000	0.47949	-0.133000	0.10451	0.320000	0.23234	-0.136000	0.14681	CCT		PASS	0.403	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		11	19	11	19	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784579	140784579	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140784579C>T	ENST00000573521.1	+	1	2060	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	687					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAGGCCTCAGACCTTACC	0.597																																						uc003lkh.1																			0					0						c.(2059-2061)TCA>TTA		protocadherin gamma subfamily A, 9 isoform 1							110.0	122.0	118.0					5																	140784579		2164	4279	6443	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784579C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2060C>T	5.37:g.140784579C>T	ENSP00000460274:p.Ser687Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S687L	p.S687L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2060	+			687			Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2060C>T	CCDS58981.1																																																																																				PASS	0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		10	52	10	52	---	---	---	---
PCDHGA9	56107	broad.mit.edu	37	5	140784793	140784793	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140784793C>T	ENST00000573521.1	+	1	2274	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	758					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTTCTCCCTCACCGCTG	0.537																																						uc003lkh.1																			0					0						c.(2272-2274)TCC>TCT		protocadherin gamma subfamily A, 9 isoform 1							105.0	112.0	110.0					5																	140784793		2203	4300	6503	SO:0001819	synonymous_variant	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140784793C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2274C>T	5.37:g.140784793C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.S758S|PCDHGB6_uc003lki.1_5'Flank|PCDHGB6_uc003lkj.1_5'Flank	p.S758S	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2274	+			758			Cytoplasmic (Potential).		A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.2274C>T	CCDS58981.1																																																																																				PASS	0.537	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		30	50	30	50	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802420	140802420	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140802420C>T	ENST00000398587.2	+	1	1659	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.P542P|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	542	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.P542P(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACCCGCCCCTCAGCAGCA	0.582																																						uc003lkq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1624-1626)CCC>CCT		protocadherin gamma subfamily A, 11 isoform 1							143.0	165.0	157.0					5																	140802420		2203	4300	6503	SO:0001819	synonymous_variant	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802420C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1626C>T	5.37:g.140802420C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.P542P|PCDHGA11_uc003lkp.1_Silent_p.P542P	p.P542P	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1884	+			542			Extracellular (Potential).|Cadherin 5.		B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.1626C>T	CCDS47294.1																																																																																				PASS	0.582	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		41	76	41	76	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802924	140802924	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:140802924C>T	ENST00000398587.2	+	1	2163	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	PCDHGB4_ENST00000519479.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	710					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I710I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTGTCATCGTGCTGCTGG	0.592																																						uc003lkq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2128-2130)ATC>ATT		protocadherin gamma subfamily A, 11 isoform 1							55.0	61.0	59.0					5																	140802924		2203	4300	6503	SO:0001819	synonymous_variant	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802924C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2130C>T	5.37:g.140802924C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.I710I|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank	p.I710I	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2388	+			710			Helical; (Potential).		B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.2130C>T	CCDS47294.1																																																																																				PASS	0.592	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	36	5	36	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141052628	141052628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:141052628G>A	ENST00000239440.4	-	7	1110	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q11*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q271*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	349	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Q349*(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTGATGACCTGGAACTTGTTG	0.597																																						uc003llm.2																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(1045-1047)CAG>TAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							159.0	113.0	129.0					5																	141052628		2203	4300	6503	SO:0001587	stop_gained	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052628G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1045C>T	5.37:g.141052628G>A	ENSP00000239440:p.Gln349*					ARAP3_uc011dbe.1_Nonsense_Mutation_p.Q11*|ARAP3_uc003lln.2_Nonsense_Mutation_p.Q271*|ARAP3_uc003llo.1_Nonsense_Mutation_p.Q349*	p.Q349*	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			7	1123	-			349			PH 1.		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	c.1045C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	37	6.392351	0.97529	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	.	.	.	4.98	4.98	0.66077	.	0.070127	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.0066	0.80367	0.0:0.0:1.0:0.0	.	.	.	.	X	268;271;349;11;349	.	ENSP00000239440:Q349X	Q	-	1	0	ARAP3	141032812	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.473000	0.66774	2.293000	0.77203	0.563000	0.77884	CAG		PASS	0.597	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		19	26	19	26	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141052630	141052630	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:141052630A>T	ENST00000239440.4	-	7	1108	c.1043T>A	c.(1042-1044)tTc>tAc	p.F348Y	ARAP3_ENST00000513878.1_Missense_Mutation_p.F10Y|ARAP3_ENST00000508305.1_Missense_Mutation_p.F270Y	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	348	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.F348Y(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATGACCTGGAACTTGTTGTC	0.597																																						uc003llm.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(1042-1044)TTC>TAC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							159.0	113.0	129.0					5																	141052630		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052630A>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1043T>A	5.37:g.141052630A>T	ENSP00000239440:p.Phe348Tyr					ARAP3_uc011dbe.1_Missense_Mutation_p.F10Y|ARAP3_uc003lln.2_Missense_Mutation_p.F270Y|ARAP3_uc003llo.1_Missense_Mutation_p.F348Y	p.F348Y	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			7	1121	-			348			PH 1.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1043T>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760629	0.69763	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	D;D;T;D	0.82893	-1.66;-1.66;1.07;-1.66	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.91038	3.17	0.50467	D	0.999878	D;P;D	0.89917	1.0;0.928;0.966	D;P;P	0.80764	0.994;0.623;0.765	D	0.93693	0.7009	10	0.87932	D	0	.	12.8793	0.58008	1.0:0.0:0.0:0.0	.	10;270;348	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Y	267;270;348;10;348	ENSP00000421826:F270Y;ENSP00000239440:F348Y;ENSP00000421468:F10Y;ENSP00000421148:F348Y	ENSP00000239440:F348Y	F	-	2	0	ARAP3	141032814	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	8.778000	0.91785	1.858000	0.53909	0.460000	0.39030	TTC		PASS	0.597	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		21	26	21	26	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243174	141243174	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:141243174C>T	ENST00000394536.3	-	3	2861	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.G896R|PCDH1_ENST00000287008.3_Missense_Mutation_p.G908R|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.G886R	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	908					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G908R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTTTTGTTTCCCTTGGAGGCC	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2722-2724)GGA>AGA		protocadherin 1 isoform 1 precursor							91.0	93.0	92.0					5																	141243174		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243174C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2722G>A	5.37:g.141243174C>T	ENSP00000378043:p.Gly908Arg					PCDH1_uc003llp.2_Missense_Mutation_p.G908R|PCDH1_uc011dbf.1_Missense_Mutation_p.G886R	p.G908R	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2839	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	908			Cytoplasmic (Potential).		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2722G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592193	0.28357	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.75	4.75	0.60458	Protocadherin (1);	0.000000	0.44902	D	0.000419	T	0.32164	0.0820	L	0.44542	1.39	0.39637	D	0.970263	P;P	0.50369	0.934;0.782	P;B	0.46629	0.522;0.203	T	0.09443	-1.0674	10	0.48119	T	0.1	.	13.104	0.59237	0.0:1.0:0.0:0.0	.	908;908	Q08174;Q08174-2	PCDH1_HUMAN;.	R	908;908;896;919;886	ENSP00000287008:G908R;ENSP00000378043:G908R;ENSP00000403497:G896R;ENSP00000350122:G919R;ENSP00000438825:G886R	ENSP00000287008:G908R	G	-	1	0	PCDH1	141223358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.629000	0.61290	2.460000	0.83146	0.457000	0.33378	GGA		PASS	0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		25	33	25	33	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141244804	141244804	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:141244804G>A	ENST00000394536.3	-	3	1231	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.T352T|PCDH1_ENST00000287008.3_Silent_p.T364T|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.T342T	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	364	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T364T(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCTTGGGGTTGGTGCCTCGGT	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1090-1092)ACC>ACT		protocadherin 1 isoform 1 precursor							122.0	115.0	118.0					5																	141244804		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244804G>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1092C>T	5.37:g.141244804G>A						PCDH1_uc003llp.2_Silent_p.T364T|PCDH1_uc011dbf.1_Silent_p.T342T	p.T364T	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1209	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	364			Extracellular (Potential).|Cadherin 3.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.1092C>T	CCDS43375.1																																																																																				PASS	0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		19	46	19	46	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141335809	141335809	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:141335809G>A	ENST00000231484.3	-	1	2818	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I536I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTCTGCGATCACCTGGA	0.542																																						uc003llx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1606-1608)ATC>ATT		protocadherin 12 precursor							83.0	76.0	78.0					5																	141335809		2203	4300	6503	SO:0001819	synonymous_variant	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335809G>A	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1608C>T	5.37:g.141335809G>A							p.I536I	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2819	-		all_hematologic(541;0.0999)	536			Extracellular (Potential).|Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	c.1608C>T	CCDS4269.1																																																																																				PASS	0.542	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		17	29	17	29	---	---	---	---
SH3RF2	153769	broad.mit.edu	37	5	145383661	145383661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:145383661G>A	ENST00000511217.1	+	3	741	c.689G>A	c.(688-690)tGg>tAg	p.W230*	SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.W230*			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	230	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.W230*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAGAACTGGGCAGAAGGC	0.423																																						uc003lnt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(688-690)TGG>TAG		SH3 domain containing ring finger 2							286.0	224.0	245.0					5																	145383661		2203	4300	6503	SO:0001587	stop_gained	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145383661G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.689G>A	5.37:g.145383661G>A	ENSP00000424497:p.Trp230*					SH3RF2_uc011dbl.1_Nonsense_Mutation_p.W230*	p.W230*	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	927	+			230			SH3 2.		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Nonsense_Mutation	SNP	ENST00000511217.1	37	c.689G>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.826612	0.98510	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9992	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	230	.	ENSP00000352028:W230X	W	+	2	0	SH3RF2	145363854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.423	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		12	48	12	48	---	---	---	---
STK32A	202374	broad.mit.edu	37	5	146754755	146754755	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:146754755G>A	ENST00000397936.3	+	11	1339	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	STK32A_ENST00000398523.3_Missense_Mutation_p.D336N	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	336							ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D336N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGAGAAGGATATGAGGAA	0.448																																						uc010jgn.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(1006-1008)GAT>AAT		serine/threonine kinase 32A isoform 1							68.0	60.0	63.0					5																	146754755		1568	3582	5150	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146754755G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.1006G>A	5.37:g.146754755G>A	ENSP00000381030:p.Asp336Asn					STK32A_uc003lom.2_Missense_Mutation_p.D336N|STK32A_uc011dbw.1_Missense_Mutation_p.D336N	p.D336N	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1286	+			336					B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.1006G>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541700	0.65198	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.67345	-0.26;-0.26	5.71	4.84	0.62591	.	0.281782	0.25189	N	0.032478	T	0.64136	0.2571	M	0.64170	1.965	0.80722	D	1	B;B;B	0.28971	0.136;0.229;0.0	B;B;B	0.32533	0.039;0.147;0.002	T	0.60767	-0.7198	10	0.30078	T	0.28	.	13.0626	0.59015	0.0787:0.0:0.9213:0.0	.	336;336;336	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	N	336	ENSP00000381030:D336N;ENSP00000381535:D336N	ENSP00000381030:D336N	D	+	1	0	STK32A	146734948	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.637000	0.67854	2.703000	0.92315	0.655000	0.94253	GAT		PASS	0.448	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		9	6	9	6	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147040805	147040805	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:147040805G>A	ENST00000265272.5	-	3	800	c.333C>T	c.(331-333)atC>atT	p.I111I	JAKMIP2_ENST00000507386.1_Silent_p.I111I|JAKMIP2_ENST00000333010.6_Silent_p.I69I	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	111						Golgi apparatus (GO:0005794)		p.I111I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTCTGGATCTCTCCAT	0.562																																						uc003loq.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(331-333)ATC>ATT		janus kinase and microtubule interacting protein							172.0	163.0	166.0					5																	147040805		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147040805G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.333C>T	5.37:g.147040805G>A						JAKMIP2_uc011dbx.1_Silent_p.I69I|JAKMIP2_uc003lor.1_Silent_p.I111I|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Silent_p.I111I	p.I111I	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	715	-			111					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.333C>T	CCDS4285.1																																																																																				PASS	0.562	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		38	87	38	87	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147480126	147480126	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:147480126C>T	ENST00000256084.7	+	13	1244	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	SPINK5_ENST00000359874.3_Missense_Mutation_p.S401F|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Missense_Mutation_p.S401F	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	401	Kazal-like 6. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S401F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACCTGCTCCATGTGTGAG	0.473																																						uc003lox.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|breast(1)	4						c.(1201-1203)TCC>TTC		serine peptidase inhibitor, Kazal type 5 isoform							151.0	149.0	150.0					5																	147480126		1981	4176	6157	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147480126C>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1202C>T	5.37:g.147480126C>T	ENSP00000256084:p.Ser401Phe					SPINK5_uc010jgs.1_Missense_Mutation_p.S373F|SPINK5_uc010jgr.2_Missense_Mutation_p.S382F|SPINK5_uc003low.2_Missense_Mutation_p.S401F|SPINK5_uc003loy.2_Missense_Mutation_p.S401F	p.S401F	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1275	+			401			Kazal-like 6.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1202C>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460936	0.43736	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	4.69	2.88	0.33553	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.430588	0.17226	N	0.182124	T	0.11110	0.0271	L	0.52759	1.655	0.30571	N	0.763456	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.989;0.991;1.0;0.981	T	0.09751	-1.0660	10	0.14252	T	0.57	-1.259	5.503	0.16838	0.1983:0.7005:0.0:0.1012	.	382;401;401;401	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	F	401;401;382;401	ENSP00000381472:S401F;ENSP00000352936:S401F;ENSP00000421519:S382F;ENSP00000256084:S401F	ENSP00000256084:S401F	S	+	2	0	SPINK5	147460319	0.967000	0.33354	1.000000	0.80357	0.682000	0.39822	-0.074000	0.11450	0.690000	0.31570	-0.293000	0.09583	TCC		PASS	0.473	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		24	50	24	50	---	---	---	---
FBXO38	81545	broad.mit.edu	37	5	147795619	147795619	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:147795619C>T	ENST00000340253.5	+	11	1561	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXO38_ENST00000513826.1_Missense_Mutation_p.R465C|FBXO38_ENST00000394370.3_Missense_Mutation_p.R465C|FBXO38_ENST00000296701.6_Missense_Mutation_p.R465C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	465					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R465C(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGATGTTTCGTGAACCACC	0.348																																						uc003lpf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1393-1395)CGT>TGT		F-box protein 38 isoform b							109.0	112.0	111.0					5																	147795619		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147795619C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1393C>T	5.37:g.147795619C>T	ENSP00000342023:p.Arg465Cys					FBXO38_uc003lpg.1_Missense_Mutation_p.R465C|FBXO38_uc003lph.2_Missense_Mutation_p.R465C	p.R465C	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1513	+			465					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	C	19.99	3.928110	0.73327	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.41400	1.01;1.07;1.0;1.07	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.994;0.997	T	0.57159	-0.7859	10	0.72032	D	0.01	-13.9498	18.5431	0.91037	0.0:1.0:0.0:0.0	.	465;465;465	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	C	465	ENSP00000342023:R465C;ENSP00000296701:R465C;ENSP00000377895:R465C;ENSP00000426410:R465C	ENSP00000296701:R465C	R	+	1	0	FBXO38	147775812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.947000	0.49058	2.808000	0.96608	0.650000	0.86243	CGT		PASS	0.348	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		12	45	12	45	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148207179	148207179	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:148207179C>T	ENST00000305988.4	+	1	1024	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	262					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.S262F(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CGCAGATCTTCCAAGTTCTGC	0.542																																						uc003lpr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)TCC>TTC		adrenergic, beta-2-, receptor, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						91.0	80.0	84.0					5																	148207179		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148207179C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.785C>T	5.37:g.148207179C>T	ENSP00000305372:p.Ser262Phe					SH3TC2_uc003lpp.1_Intron	p.S262F	NM_000024	NP_000015	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1024	+			262			Cytoplasmic.		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.785C>T	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400355	0.62177	.	.	ENSG00000169252	ENST00000305988	T	0.72725	-0.68	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.117285	0.64402	D	0.000013	D	0.86789	0.6017	M	0.88310	2.945	0.58432	D	0.999995	D	0.67145	0.996	D	0.68483	0.958	D	0.88279	0.2935	10	0.66056	D	0.02	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	262	P07550	ADRB2_HUMAN	F	262	ENSP00000305372:S262F	ENSP00000305372:S262F	S	+	2	0	ADRB2	148187372	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	5.190000	0.65104	2.832000	0.97577	0.655000	0.94253	TCC		PASS	0.542	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		7	45	7	45	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216068	149216068	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:149216068C>T	ENST00000309241.5	+	8	2082	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P620S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P645S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P684S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	684					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.P684S(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGAAGCGTCCCTTCTCCTG	0.622																																						uc003lrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2050-2052)CCC>TCC		peroxisome proliferator-activated receptor							50.0	55.0	53.0					5																	149216068		2203	4299	6502	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216068C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2050C>T	5.37:g.149216068C>T	ENSP00000312649:p.Pro684Ser					PPARGC1B_uc003lrb.1_Missense_Mutation_p.P684S|PPARGC1B_uc003lrd.2_Missense_Mutation_p.P645S|PPARGC1B_uc003lrf.2_Missense_Mutation_p.P663S|PPARGC1B_uc003lre.1_Missense_Mutation_p.P663S	p.P684S	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2092	+			684					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2050C>T	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.33|14.33	2.503146|2.503146	0.44558|0.44558	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	T;T;T;T|.	0.14391|.	2.52;2.51;2.54;2.51|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	0.078148|.	0.53938|.	N|.	0.000045|.	T|T	0.63486|0.63486	0.2515|0.2515	L|L	0.46614|0.46614	1.455|1.455	0.37011|0.37011	D|D	0.895759|0.895759	P;B;P;B;P|.	0.38223|.	0.623;0.361;0.623;0.349;0.623|.	B;B;B;B;B|.	0.38880|.	0.266;0.104;0.266;0.137;0.284|.	T|T	0.66555|0.66555	-0.5894|-0.5894	10|5	0.72032|.	D|.	0.01|.	-17.3472|-17.3472	17.5766|17.5766	0.87952|0.87952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	663;663;645;684;684|.	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3|.	.;.;.;PRGC2_HUMAN;.|.	S|F	645;684;684;620|370	ENSP00000353638:P645S;ENSP00000377855:P684S;ENSP00000312649:P684S;ENSP00000384403:P620S|.	ENSP00000312649:P684S|.	P|S	+|+	1|2	0|0	PPARGC1B|PPARGC1B	149196261|149196261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	5.041000|5.041000	0.64196|0.64196	2.212000|2.212000	0.71576|0.71576	0.456000|0.456000	0.33151|0.33151	CCC|TCC		PASS	0.622	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		12	23	12	23	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149449569	149449569	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:149449569G>A	ENST00000286301.3	-	10	1668	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	459	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.S459S(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGGCTCCTGGCTCAGGACCT	0.587																																						uc003lrl.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(1375-1377)AGC>AGT		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						98.0	96.0	97.0					5																	149449569		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149449569G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1377C>T	5.37:g.149449569G>A						CSF1R_uc011dcd.1_Silent_p.S311S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S459S	p.S459S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		9	1572	-			459			Ig-like C2-type 5.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.1377C>T	CCDS4302.1																																																																																				PASS	0.587	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		7	33	7	33	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149676783	149676783	+	Silent	SNP	C	C	T	rs375397533		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:149676783C>T	ENST00000328668.7	-	2	2283	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	568					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R568R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATCAGATCCGTTGGGACA	0.522																																						uc003lrv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1702-1704)CGG>CGA		arylsulfatase family, member I precursor							99.0	92.0	94.0					5																	149676783		2203	4300	6503	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149676783C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1704G>A	5.37:g.149676783C>T							p.R568R	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2293	-			568					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.1704G>A	CCDS34275.1																																																																																				PASS	0.522	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		19	34	19	34	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150276412	150276412	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150276412C>T	ENST00000274599.5	-	6	809	c.389G>A	c.(388-390)gGt>gAt	p.G130D	ZNF300_ENST00000446148.2_Missense_Mutation_p.G146D|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G94D|ZNF300_ENST00000394226.2_Missense_Mutation_p.G130D	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	130					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.G130D(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGACCATCACCTTGACAGAC	0.423																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(388-390)GGT>GAT		zinc finger protein 300							110.0	106.0	107.0					5																	150276412		2202	4298	6500	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276412C>T	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.389G>A	5.37:g.150276412C>T	ENSP00000274599:p.Gly130Asp					IRGM_uc011dcl.1_Intron	p.G130D	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	656	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	130					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.389G>A	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	2.534	-0.307927	0.05458	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07688	3.24;3.23;3.17;3.25	2.71	-1.04	0.10068	.	.	.	.	.	T	0.03053	0.0090	N	0.04203	-0.255	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.42849	-0.9427	9	0.34782	T	0.22	.	2.3778	0.04346	0.23:0.3699:0.0:0.4002	.	130	Q96RE9	ZN300_HUMAN	D	146;130;94;130	ENSP00000397178:G146D;ENSP00000274599:G130D;ENSP00000392593:G94D;ENSP00000377773:G130D	ENSP00000274599:G130D	G	-	2	0	ZNF300	150256605	0.000000	0.05858	0.761000	0.31378	0.943000	0.58893	-1.019000	0.03622	-0.296000	0.08947	0.557000	0.71058	GGT		PASS	0.423	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		26	33	26	33	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150278106	150278106	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150278106G>A	ENST00000274599.5	-	4	446	c.26C>T	c.(25-27)tCa>tTa	p.S9L	ZNF300_ENST00000446148.2_Missense_Mutation_p.S25L|ZNF300_ENST00000427179.1_Missense_Mutation_p.S9L|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.S9L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	9	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.S9L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTTGAATGATACTAACCC	0.433																																						uc003lsy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(25-27)TCA>TTA		zinc finger protein 300							98.0	102.0	101.0					5																	150278106		2203	4299	6502	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278106G>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.26C>T	5.37:g.150278106G>A	ENSP00000274599:p.Ser9Leu					IRGM_uc011dcl.1_Intron	p.S9L	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	293	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	9			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.26C>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916832	0.52546	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.01933	4.55;4.55;4.55;4.55	3.26	3.26	0.37387	Krueppel-associated box (4);	.	.	.	.	T	0.06188	0.0160	M	0.69463	2.115	0.80722	D	1	P	0.47841	0.901	P	0.49451	0.611	T	0.20240	-1.0281	9	0.87932	D	0	.	12.3944	0.55376	0.0:0.0:1.0:0.0	.	9	Q96RE9	ZN300_HUMAN	L	25;9;9;9	ENSP00000397178:S25L;ENSP00000274599:S9L;ENSP00000414195:S9L;ENSP00000377773:S9L	ENSP00000274599:S9L	S	-	2	0	ZNF300	150258299	0.963000	0.33076	1.000000	0.80357	0.954000	0.61252	2.871000	0.48459	1.850000	0.53721	0.467000	0.42956	TCA		PASS	0.433	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		22	58	22	58	---	---	---	---
SLC36A1	206358	broad.mit.edu	37	5	150856202	150856202	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150856202C>T	ENST00000243389.3	+	9	1097	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	SLC36A1_ENST00000520701.1_Silent_p.L292L|SLC36A1_ENST00000521925.1_Silent_p.L292L|RNA5SP197_ENST00000363357.1_RNA	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.L292L(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCCACTCATCCTGTACCTGGG	0.483																																					Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(874-876)CTG>TTG		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						151.0	128.0	136.0					5																	150856202		2203	4300	6503	SO:0001819	synonymous_variant	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150856202C>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.874C>T	5.37:g.150856202C>T						GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.L292L|SLC36A1_uc010jhw.1_Silent_p.L292L	p.L292L	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1091	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	292			Helical; Name=7; (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Silent	SNP	ENST00000243389.3	37	c.874C>T	CCDS4316.1																																																																																				PASS	0.483	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		11	33	11	33	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150929025	150929026	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150929025_150929026CC>TT	ENST00000261800.5	-	8	4631_4632	c.4619_4620GG>AA	c.(4618-4620)tGG>tAA	p.W1540*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1540	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W1540*(3)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGGTCACCCACACGAAGTT	0.54																																						uc003lue.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4618-4620)TGG>TGA|c.(4618-4620)TGG>TAG		FAT tumor suppressor 2 precursor																																				SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150929025C>T|g.chr5:150929026C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4619_4620delinsTT	5.37:g.150929025_150929026delinsTT	ENSP00000261800:p.Trp1540*					GM2A_uc011dcs.1_Intron	p.W1540*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	4633|4632	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1540			Extracellular (Potential).|Cadherin 13.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.4620G>A|c.4619G>A	CCDS4317.1																																																																																				PASS	0.540	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		6	15	6	15	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945550	150945550	+	Silent	SNP	G	G	A	rs138599681		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150945550G>A	ENST00000261800.5	-	1	2955	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	981	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L981L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCCAGAATGAGCGCCCCTG	0.617																																						uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(2941-2943)CTC>CTT		FAT tumor suppressor 2 precursor		G		1,4405	2.1+/-5.4	0,1,2202	38.0	39.0	39.0		2943	2.3	1.0	5	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	FAT2	NM_001447.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		981/4350	150945550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945550G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2943C>T	5.37:g.150945550G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.L981L	p.L981L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2956	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	981			Extracellular (Potential).|Cadherin 8.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.2943C>T	CCDS4317.1																																																																																				PASS	0.617	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	16	7	16	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150946443	150946443	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150946443G>A	ENST00000261800.5	-	1	2062	c.2050C>T	c.(2050-2052)Ctc>Ttc	p.L684F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	684					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L684F(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAAAGTGGAGGATAGTCTTT	0.403																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(2050-2052)CTC>TTC		FAT tumor suppressor 2 precursor							117.0	110.0	112.0					5																	150946443		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946443G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2050C>T	5.37:g.150946443G>A	ENSP00000261800:p.Leu684Phe					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L684F	p.L684F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2063	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	684			Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.2050C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169070	0.38315	.	.	ENSG00000086570	ENST00000261800	T	0.65549	-0.16	5.57	3.52	0.40303	.	0.098941	0.40469	N	0.001091	T	0.45856	0.1363	N	0.24115	0.695	0.37085	D	0.899196	P	0.50272	0.933	B	0.42386	0.386	T	0.53648	-0.8409	10	0.45353	T	0.12	.	8.8699	0.35309	0.0838:0.0:0.7001:0.2161	.	684	Q9NYQ8	FAT2_HUMAN	F	684	ENSP00000261800:L684F	ENSP00000261800:L684F	L	-	1	0	FAT2	150926636	1.000000	0.71417	0.954000	0.39281	0.844000	0.47949	1.515000	0.35845	1.500000	0.48636	0.655000	0.94253	CTC		PASS	0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		20	29	20	29	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947368	150947368	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:150947368G>A	ENST00000261800.5	-	1	1137	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	375	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S375S(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCAGGAGGGGAAAACTCAC	0.478																																						uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1123-1125)TCC>TCT		FAT tumor suppressor 2 precursor							63.0	65.0	64.0					5																	150947368		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947368G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1125C>T	5.37:g.150947368G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S375S	p.S375S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1138	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	375			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1125C>T	CCDS4317.1																																																																																				PASS	0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		32	22	32	22	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153796373	153796374	+	Splice_Site	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:153796373_153796374GG>AA	ENST00000297107.6	+	12	1790_1791	c.1653_1654GG>AA	c.(1651-1656)aaGGac>aaAAac	p.D552N	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Splice_Site_p.D490N|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Splice_Site_p.D225N	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	552	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.?(2)|p.D552N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ATGTTTTGTAGGACAAGACCCT	0.5																																						uc003lvh.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	skin(2)	2						c.e12-1|c.(1654-1656)GAC>AAC		GalNAc transferase 10 isoform a																																				SO:0001630	splice_region_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153796373G>A|g.chr5:153796374G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	Exception_encountered	5.37:g.153796373_153796374delinsAA						GALNT10_uc010jic.2_Splice_Site|GALNT10_uc010jid.2_Splice_Site_p.D393_splice|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Splice_Site_p.D223_splice|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.D393N|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.D223N	p.D552_splice|p.D552N	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		12	1786	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	|552			|Lumenal (Potential).|Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Splice_Site|Missense_Mutation	SNP	ENST00000297107.6	37	c.1654_splice|c.1654G>A	CCDS4325.1																																																																																				PASS	0.500	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	Missense_Mutation	13	24|23	13	23	---	---	---	---
SAP30L	79685	broad.mit.edu	37	5	153830692	153830692	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:153830692C>T	ENST00000297109.6	+	2	891	c.243C>T	c.(241-243)atC>atT	p.I81I	SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000440364.2_Intron|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I81I(1)		breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAAATTTCATCCAGAGTGTCC	0.428																																						uc003lvk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)ATC>ATT		SAP30-like isoform 1							75.0	77.0	76.0					5																	153830692		2203	4300	6503	SO:0001819	synonymous_variant	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153830692C>T	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.243C>T	5.37:g.153830692C>T						SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA	p.I81I	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	891	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	81					E9PAU7|E9PAY2	Silent	SNP	ENST00000297109.6	37	c.243C>T	CCDS4326.1																																																																																				PASS	0.428	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		18	17	18	17	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154287306	154287306	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:154287306G>A	ENST00000285873.7	-	16	2315	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	747					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.P747L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTCAAGGTGGGCTTTTTCTT	0.408																																						uc003lvx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2239-2241)CCC>CTC		gemin 5							190.0	192.0	191.0					5																	154287306		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154287306G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2240C>T	5.37:g.154287306G>A	ENSP00000285873:p.Pro747Leu					GEMIN5_uc011ddk.1_Missense_Mutation_p.P746L	p.P747L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		16	2323	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	747					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.2240C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	6.651	0.488653	0.12641	.	.	ENSG00000082516	ENST00000285873	T	0.70631	-0.5	5.63	1.37	0.22104	.	0.320687	0.33346	N	0.005020	T	0.51635	0.1686	N	0.20685	0.6	0.28751	N	0.901451	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.45818	-0.9235	10	0.42905	T	0.14	-3.514	9.7397	0.40411	0.3955:0.0:0.6045:0.0	.	746;747	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	L	747	ENSP00000285873:P747L	ENSP00000285873:P747L	P	-	2	0	GEMIN5	154267499	0.835000	0.29415	0.695000	0.30226	0.403000	0.30841	1.028000	0.30128	0.337000	0.23665	0.563000	0.77884	CCC		PASS	0.408	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			26	88	26	88	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154394592	154394592	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:154394592G>A	ENST00000435029.4	+	1	1333	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	391					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.K391K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGATGGAGAAGAATCAGTCCC	0.463																																						uc010jih.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1171-1173)AAG>AAA		kinesin family member 4B							126.0	127.0	127.0					5																	154394592		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394592G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1173G>A	5.37:g.154394592G>A							p.K391K	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1333	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	391			Potential.			Silent	SNP	ENST00000435029.4	37	c.1173G>A	CCDS47324.1																																																																																				PASS	0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			20	82	20	82	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155935705	155935706	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:155935705_155935706CC>TT	ENST00000435422.3	+	3	771_772	c.284_285CC>TT	c.(283-285)tCC>tTT	p.S95F	SGCD_ENST00000517913.1_Missense_Mutation_p.S96F|SGCD_ENST00000447401.1_Missense_Mutation_p.S96F|SGCD_ENST00000337851.4_Missense_Mutation_p.S96F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	95					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.S96F(2)|p.S96S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAATCCAGTCCCGACCAGTAA	0.426																																						uc003lwd.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(283-285)TCC>TTC|c.(283-285)TCC>TCT		delta-sarcoglycan isoform 3																																				SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935705C>T|g.chr5:155935706C>T	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		Exception_encountered	5.37:g.155935705_155935706delinsTT	ENSP00000403003:p.Ser95Phe					SGCD_uc003lwa.1_Missense_Mutation_p.S96F|SGCD_uc003lwb.2_Missense_Mutation_p.S96F|SGCD_uc003lwc.3_Missense_Mutation_p.S96F|SGCD_uc003lwa.1_Silent_p.S96S|SGCD_uc003lwb.2_Silent_p.S96S|SGCD_uc003lwc.3_Silent_p.S96S	p.S95F|p.S95S	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	760|761	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	95			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation|Silent	SNP	ENST00000435422.3	37	c.284C>T|c.285C>T	CCDS47327.1																																																																																				PASS	0.426	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			5	40	5	40	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156186335	156186335	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:156186335G>A	ENST00000435422.3	+	8	1291	c.804G>A	c.(802-804)ggG>ggA	p.G268G	SGCD_ENST00000337851.4_Silent_p.G269G	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	268					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.G269G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGCCAATGGGAGATTATTCC	0.502																																						uc003lwd.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GGG>GGA		delta-sarcoglycan isoform 3							136.0	131.0	133.0					5																	156186335		1976	4170	6146	SO:0001819	synonymous_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156186335G>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.804G>A	5.37:g.156186335G>A						SGCD_uc003lwc.3_Silent_p.G269G	p.G268G	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1280	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	268			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Silent	SNP	ENST00000435422.3	37	c.804G>A	CCDS47327.1																																																																																				PASS	0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			12	67	12	67	---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157065364	157065364	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:157065364G>A	ENST00000265007.6	-	4	2095	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	SOX30_ENST00000519442.1_Missense_Mutation_p.P280L|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	585	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P585L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGTGGAATGGGAGAAGCCTG	0.547																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1753-1755)CCC>CTC		SRY (sex determining region Y)-box 30 isoform a							92.0	89.0	90.0					5																	157065364		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157065364G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1754C>T	5.37:g.157065364G>A	ENSP00000265007:p.Pro585Leu					SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.P280L	p.P585L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	2096	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	585			Pro-rich.		O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.1754C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449054	0.84101	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.98192	-4.6;-4.78	5.61	5.61	0.85477	.	0.172868	0.42053	D	0.000771	D	0.97882	0.9304	L	0.27053	0.805	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.68765	0.922;0.96	D	0.99782	1.1028	10	0.87932	D	0	.	17.8137	0.88624	0.0:0.0:1.0:0.0	.	280;585	B4DXW7;O94993	.;SOX30_HUMAN	L	585;280	ENSP00000265007:P585L;ENSP00000427984:P280L	ENSP00000265007:P585L	P	-	2	0	SOX30	156997942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.394000	0.73223	2.642000	0.89623	0.650000	0.86243	CCC		PASS	0.547	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		4	30	4	30	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158140059	158140059	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:158140059G>A	ENST00000313708.6	-	13	1570	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.H399Y|EBF1_ENST00000517373.1_Missense_Mutation_p.H422Y	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.H430Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCCTGCGTGGACCGAGGTG	0.557			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1288-1290)CAC>TAC		early B-cell factor							127.0	107.0	114.0					5																	158140059		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140059G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1288C>T	5.37:g.158140059G>A	ENSP00000322898:p.His430Tyr					EBF1_uc011ddw.1_Missense_Mutation_p.H298Y|EBF1_uc011ddx.1_Missense_Mutation_p.H431Y|EBF1_uc003lxl.3_Missense_Mutation_p.H399Y	p.H430Y	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1590	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	430					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1288C>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036406	0.93630	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.50548	0.74;0.74;0.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.78637	2.42	0.58432	D	0.999999	D;D;P;D	0.63880	0.958;0.985;0.891;0.993	B;P;P;P	0.62649	0.438;0.794;0.487;0.905	T	0.63134	-0.6705	10	0.27082	T	0.32	-5.4811	20.2985	0.98592	0.0:0.0:1.0:0.0	.	430;417;430;399	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	Y	430;430;399;422	ENSP00000322898:H430Y;ENSP00000370029:H399Y;ENSP00000428020:H422Y	ENSP00000322898:H430Y	H	-	1	0	EBF1	158072637	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CAC		PASS	0.557	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		14	18	14	18	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158223416	158223416	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:158223416G>A	ENST00000313708.6	-	9	1128	c.846C>T	c.(844-846)atC>atT	p.I282I	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.I251I|EBF1_ENST00000517373.1_Silent_p.I274I	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	282	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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.I282I(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCCCCTATGATGATCACAG	0.458			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(844-846)ATC>ATT		early B-cell factor							153.0	123.0	133.0					5																	158223416		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223416G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.846C>T	5.37:g.158223416G>A						EBF1_uc011ddw.1_Silent_p.I150I|EBF1_uc011ddx.1_Silent_p.I283I|EBF1_uc003lxl.3_Silent_p.I251I	p.I282I	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1148	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	282			IPT/TIG.		Q8IW11	Silent	SNP	ENST00000313708.6	37	c.846C>T	CCDS4343.1																																																																																				PASS	0.458	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		12	30	12	30	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159344505	159344505	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:159344505C>T	ENST00000306675.3	+	1	716	c.593C>T	c.(592-594)aCc>aTc	p.T198I		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	198					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.T198I(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TGCGGGGTCACCGAAGAACCC	0.577																																						uc003lxt.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(592-594)ACC>ATC		alpha-1B-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						150.0	145.0	147.0					5																	159344505		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344505C>T	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.593C>T	5.37:g.159344505C>T	ENSP00000306662:p.Thr198Ile						p.T198I	NM_000679	NP_000670	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	766	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	198			Extracellular (By similarity).		B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.593C>T	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899434	0.72754	.	.	ENSG00000170214	ENST00000306675	T	0.36878	1.23	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56019	-0.8048	10	0.72032	D	0.01	.	18.6331	0.91368	0.0:1.0:0.0:0.0	.	198	P35368	ADA1B_HUMAN	I	198	ENSP00000306662:T198I	ENSP00000306662:T198I	T	+	2	0	ADRA1B	159277083	1.000000	0.71417	0.964000	0.40570	0.902000	0.53008	7.818000	0.86416	2.758000	0.94735	0.563000	0.77884	ACC		PASS	0.577	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			18	40	18	40	---	---	---	---
C1QTNF2	114898	broad.mit.edu	37	5	159776683	159776683	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:159776683G>A	ENST00000393975.3	-	3	488	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	117	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.P162L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCTTCCCGGGGGTACCGTT	0.687																																						uc003lyd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(484-486)CCC>CTC		C1q and tumor necrosis factor related protein 2							59.0	67.0	64.0					5																	159776683		2203	4300	6503	SO:0001583	missense	114898					collagen		g.chr5:159776683G>A	AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.485C>T	5.37:g.159776683G>A	ENSP00000377545:p.Pro162Leu						p.P162L	NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	489	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	117			Collagen-like.			Missense_Mutation	SNP	ENST00000393975.3	37	c.485C>T	CCDS4351.2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959511	0.34565	.	.	ENSG00000145861	ENST00000393975	D	0.96685	-4.09	5.74	5.74	0.90152	.	0.119915	0.56097	D	0.000022	D	0.95111	0.8416	L	0.48986	1.54	0.80722	D	1	P	0.49185	0.92	P	0.48454	0.578	D	0.93049	0.6464	10	0.18710	T	0.47	.	14.3626	0.66782	0.0:0.0:0.8519:0.1481	.	117	Q9BXJ5	C1QT2_HUMAN	L	162	ENSP00000377545:P162L	ENSP00000377545:P162L	P	-	2	0	C1QTNF2	159709261	1.000000	0.71417	0.967000	0.41034	0.050000	0.14768	4.733000	0.62036	2.722000	0.93159	0.591000	0.81541	CCC		PASS	0.687	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252672.2			20	38	20	38	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	159992576	159992576	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:159992576C>A	ENST00000327245.5	-	26	5116	c.4270G>T	c.(4270-4272)Ggg>Tgg	p.G1424W		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1424					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1424W(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTGCTCCCCGGATGAGAGT	0.557																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4270-4272)GGG>TGG		ATPase, class V, type 10B							115.0	120.0	119.0					5																	159992576		2033	4186	6219	SO:0001583	missense	23120				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.chr5:159992576C>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4270G>T	5.37:g.159992576C>A	ENSP00000313600:p.Gly1424Trp					ATP10B_uc010jit.1_Missense_Mutation_p.G674W	p.G1424W	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5117	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1424			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4270G>T	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514710	0.64634	.	.	ENSG00000118322	ENST00000327245	T	0.46063	0.88	5.58	1.74	0.24563	.	0.508177	0.19368	N	0.115971	T	0.48370	0.1496	L	0.50333	1.59	0.09310	N	1	D	0.57257	0.979	P	0.60117	0.869	T	0.31806	-0.9930	9	.	.	.	.	7.1503	0.25606	0.0:0.6248:0.0:0.3752	.	1424	O94823	AT10B_HUMAN	W	1424	ENSP00000313600:G1424W	.	G	-	1	0	ATP10B	159925154	0.001000	0.12720	0.000000	0.03702	0.328000	0.28507	0.208000	0.17415	0.028000	0.15324	0.650000	0.86243	GGG		PASS	0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		4	79	4	79	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160047825	160047825	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:160047825C>T	ENST00000327245.5	-	15	2791	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	649					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E649K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTAAGCTCTCCCCGAGGTCT	0.557																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1945-1947)GAG>AAG		ATPase, class V, type 10B							89.0	93.0	91.0					5																	160047825		2132	4237	6369	SO:0001583	missense	23120				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.chr5:160047825C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1945G>A	5.37:g.160047825C>T	ENSP00000313600:p.Glu649Lys					ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.E207K	p.E649K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2792	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	649			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1945G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620804	0.14193	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.86164	-2.08;-2.08	5.53	5.53	0.82687	HAD-like domain (1);	0.411672	0.24481	N	0.038156	D	0.83580	0.5285	L	0.46157	1.445	0.37605	D	0.920723	P;P	0.36354	0.549;0.549	B;B	0.35182	0.129;0.197	D	0.83966	0.0324	9	.	.	.	.	16.6496	0.85185	0.0:1.0:0.0:0.0	.	257;649	Q2YDW8;O94823	.;AT10B_HUMAN	K	649;257	ENSP00000313600:E649K;ENSP00000431081:E257K	.	E	-	1	0	ATP10B	159980403	0.855000	0.29742	1.000000	0.80357	0.356000	0.29392	3.777000	0.55364	2.605000	0.88082	0.655000	0.94253	GAG		PASS	0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		14	79	14	79	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160114830	160114830	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:160114830C>T	ENST00000327245.5	-	5	1098	c.252G>A	c.(250-252)cgG>cgA	p.R84R	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	84					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R84R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAAGAGATTCCGGGGCAGGA	0.458																																						uc003lym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(250-252)CGG>CGA		ATPase, class V, type 10B							172.0	177.0	175.0					5																	160114830		1923	4119	6042	SO:0001819	synonymous_variant	23120				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.chr5:160114830C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.252G>A	5.37:g.160114830C>T						ATP10B_uc003lyp.2_Silent_p.R84R|ATP10B_uc011deg.1_Silent_p.R128R|ATP10B_uc003lyo.2_5'Flank	p.R84R	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1099	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	84			Helical; (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.252G>A	CCDS43394.1																																																																																				PASS	0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		23	42	23	42	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160972295	160972295	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:160972295G>A	ENST00000393959.1	-	3	174	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	GABRB2_ENST00000517901.1_5'UTR|GABRB2_ENST00000520240.1_Missense_Mutation_p.P59S|GABRB2_ENST00000523730.1_5'Flank|GABRB2_ENST00000353437.6_Missense_Mutation_p.P59S|GABRB2_ENST00000274547.2_Missense_Mutation_p.P59S|GABRB2_ENST00000517547.1_5'UTR			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	59					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.P59S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGCCACGGGGGGACCTGCA	0.453																																						uc003lys.1																			2	Substitution - Missense(2)		lung(2)		0						c.(175-177)CCC>TCC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						55.0	49.0	51.0					5																	160972295		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160972295G>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.175C>T	5.37:g.160972295G>A	ENSP00000377531:p.Pro59Ser					GABRB2_uc011deh.1_5'UTR|GABRB2_uc003lyr.1_Missense_Mutation_p.P59S|GABRB2_uc003lyt.1_Missense_Mutation_p.P59S|GABRB2_uc010jiu.1_5'UTR|GABRB2_uc011dei.1_Missense_Mutation_p.P59S	p.P59S	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	393	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	59			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.175C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039575	0.75732	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.219765	0.47455	D	0.000231	D	0.90235	0.6947	M	0.88640	2.97	0.80722	D	1	P;P;P	0.45474	0.859;0.828;0.498	P;P;B	0.55508	0.609;0.777;0.351	D	0.91211	0.4999	10	0.66056	D	0.02	.	19.6451	0.95773	0.0:0.0:1.0:0.0	.	59;59;59	B7Z4P0;P47870;P47870-1	.;GBRB2_HUMAN;.	S	59	ENSP00000377531:P59S;ENSP00000274547:P59S;ENSP00000274546:P59S;ENSP00000429320:P59S	ENSP00000274547:P59S	P	-	1	0	GABRB2	160904873	1.000000	0.71417	0.974000	0.42286	0.851000	0.48451	9.620000	0.98373	2.720000	0.93068	0.655000	0.94253	CCC		PASS	0.453	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			9	9	9	9	---	---	---	---
WWC1	23286	broad.mit.edu	37	5	167882400	167882400	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:167882400C>A	ENST00000265293.4	+	19	3200	c.2698C>A	c.(2698-2700)Ccc>Acc	p.P900T	WWC1_ENST00000521089.1_Missense_Mutation_p.P900T|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	900	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.P900T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCCATCCCCCACAGTGGT	0.612																																						uc003lzu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(2698-2700)CCC>ACC		WW and C2 domain containing 1 isoform 3							105.0	112.0	109.0					5																	167882400		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882400C>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2698C>A	5.37:g.167882400C>A	ENSP00000265293:p.Pro900Thr					WWC1_uc003lzv.2_Missense_Mutation_p.P900T|WWC1_uc011den.1_Missense_Mutation_p.P900T|WWC1_uc003lzw.2_Missense_Mutation_p.P699T|WWC1_uc010jjf.1_Missense_Mutation_p.P172T	p.P900T	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	2791	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	900			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2698C>A	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.124|9.124	1.009669|1.009669	0.19277|0.19277	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.51325	.|0.71;0.71;0.71	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.378699|0.378699	0.29028|0.29028	N|N	0.013374|0.013374	T|T	0.27967|0.27967	0.0689|0.0689	N|N	0.21448|0.21448	0.665|0.665	0.29622|0.29622	N|N	0.84615|0.84615	.|P;B	.|0.38078	.|0.617;0.005	.|B;B	.|0.33960	.|0.173;0.006	T|T	0.16394|0.16394	-1.0404|-1.0404	6|10	.|0.23891	.|T	.|0.37	.|.	7.1159|7.1159	0.25416|0.25416	0.0:0.7935:0.0:0.2065|0.0:0.7935:0.0:0.2065	.|.	.|900;900	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	H|T	861;676|900;900;226	.|ENSP00000265293:P900T;ENSP00000427772:P900T;ENSP00000428084:P226T	.|ENSP00000265293:P900T	P|P	+|+	2|1	0|0	WWC1|WWC1	167814978|167814978	0.914000|0.914000	0.31030|0.31030	0.991000|0.991000	0.47740|0.47740	0.645000|0.645000	0.38454|0.38454	1.810000|1.810000	0.38932|0.38932	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	CCC|CCC		PASS	0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		5	69	5	69	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169188553	169188553	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:169188553C>T	ENST00000256935.8	+	25	2558	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.I318I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	826					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.I826I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACCTGCATCCCTCCTGTGA	0.488																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(2476-2478)ATC>ATT		dedicator of cytokinesis 2							200.0	185.0	190.0					5																	169188553		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169188553C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2478C>T	5.37:g.169188553C>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I318I	p.I826I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2558	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	826					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.2478C>T	CCDS4371.1																																																																																				PASS	0.488	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		29	97	29	97	---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169535120	169535120	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:169535120G>A	ENST00000306268.6	+	2	703	c.642G>A	c.(640-642)agG>agA	p.R214R	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	214					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R214R(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTTCCGCAGGAAAAGGAAGA	0.493									Pendred syndrome																													uc003mai.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(640-642)AGG>AGA		forkhead box I1 isoform a							73.0	73.0	73.0					5																	169535120		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535120G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.642G>A	5.37:g.169535120G>A						FOXI1_uc003maj.3_Intron	p.R214R	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	687	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	214			Fork-head.		Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.642G>A	CCDS4372.1																																																																																				PASS	0.493	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		32	25	32	25	---	---	---	---
KCNMB1	3779	broad.mit.edu	37	5	169805862	169805862	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:169805862C>T	ENST00000274629.4	-	4	864	c.422G>A	c.(421-423)gGg>gAg	p.G141E	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	141					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.G141E(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GGTTTCGTTCCCCCGAGGTGC	0.622																																						uc003maq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(421-423)GGG>GAG		potassium large conductance calcium-activated							89.0	85.0	86.0					5																	169805862		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805862C>T	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.422G>A	5.37:g.169805862C>T	ENSP00000274629:p.Gly141Glu					KCNIP1_uc003map.2_Intron	p.G141E	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	822	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	141			Extracellular (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.422G>A	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.556755	0.00910	.	.	ENSG00000145936	ENST00000274629	T	0.08282	3.11	5.3	-3.55	0.04639	.	0.887861	0.09863	N	0.745974	T	0.02304	0.0071	N	0.02721	-0.515	0.19300	N	0.99997	B	0.10296	0.003	B	0.14578	0.011	T	0.44003	-0.9356	9	.	.	.	.	0.9188	0.01310	0.2683:0.3172:0.1306:0.284	.	141	Q16558	KCMB1_HUMAN	E	141	ENSP00000274629:G141E	.	G	-	2	0	KCNMB1	169738440	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.261000	0.18442	-0.971000	0.03564	-1.377000	0.01181	GGG		PASS	0.622	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			5	22	5	22	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170323062	170323062	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:170323062G>A	ENST00000523189.1	+	5	596	c.432G>A	c.(430-432)gtG>gtA	p.V144V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	144					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.V144V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGTACTGTGGAACACTGCA	0.373			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(430-432)GTG>GTA		RAN binding protein 17							114.0	108.0	110.0					5																	170323062		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170323062G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.432G>A	5.37:g.170323062G>A						RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_Intron|RANBP17_uc003maw.2_Silent_p.V144V|RANBP17_uc011dew.1_Silent_p.V144V	p.V144V	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	448	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	144					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.432G>A	CCDS34287.1																																																																																				PASS	0.373	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		8	24	8	24	---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170692728	170692728	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:170692728C>T	ENST00000523189.1	+	25	2984	c.2820C>T	c.(2818-2820)atC>atT	p.I940I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	940					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.I940I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAGACTACATCGTCACCTACC	0.418			T	TRD@	ALL																																	uc003mba.2				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2818-2820)ATC>ATT		RAN binding protein 17							119.0	118.0	118.0					5																	170692728		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170692728C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2820C>T	5.37:g.170692728C>T						RANBP17_uc003mbb.2_Silent_p.I265I|RANBP17_uc010jjs.2_RNA	p.I940I	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		25	2836	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	940					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2820C>T	CCDS34287.1																																																																																				PASS	0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		28	61	28	61	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171766402	171766402	+	Silent	SNP	G	G	A	rs370969150		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:171766402G>A	ENST00000311601.5	-	13	1877	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	569					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.I569I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCTGGAGGGATGTGTTTGG	0.627																																						uc003mbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1705-1707)ATC>ATT		SH3 and PX domains 2B		G		0,4406		0,0,2203	71.0	82.0	78.0		1707	-11.1	0.0	5		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SH3PXD2B	NM_001017995.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		569/912	171766402	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766402G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1707C>T	5.37:g.171766402G>A							p.I569I	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	1878	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	569					B6F0V2|Q9P2Q1	Silent	SNP	ENST00000311601.5	37	c.1707C>T	CCDS34291.1																																																																																				PASS	0.627	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		14	27	14	27	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172571570	172571570	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:172571570C>T	ENST00000351486.5	+	1	53	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	BNIP1_ENST00000352523.6_Missense_Mutation_p.H8Y|BNIP1_ENST00000231668.9_Missense_Mutation_p.H8Y|CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000393770.4_Missense_Mutation_p.H8Y	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	8					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.H8Y(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCAAGACGTCCACGTCCGGAT	0.612											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mcj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(22-24)CAC>TAC		BCL2/adenovirus E1B 19kD interacting protein 1							46.0	45.0	45.0					5																	172571570		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172571570C>T	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.22C>T	5.37:g.172571570C>T	ENSP00000239215:p.His8Tyr		OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1901	BNIP1_uc003mci.3_Missense_Mutation_p.H8Y|BNIP1_uc003mck.3_Missense_Mutation_p.H8Y|BNIP1_uc003mcl.3_Missense_Mutation_p.H8Y	p.H8Y	NM_001205	NP_001196	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	126	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	8			Cytoplasmic (Potential).		D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.22C>T	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917257	0.92249	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.07	5.07	0.68467	.	0.113922	0.64402	D	0.000014	T	0.61324	0.2338	M	0.63428	1.95	0.58432	D	0.999998	P;D;P;D	0.65815	0.955;0.995;0.608;0.991	P;P;B;P	0.56700	0.564;0.713;0.185;0.804	T	0.59731	-0.7399	10	0.39692	T	0.17	.	18.2268	0.89920	0.0:1.0:0.0:0.0	.	8;8;8;8	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Y	8	ENSP00000231668:H8Y;ENSP00000239215:H8Y;ENSP00000239214:H8Y;ENSP00000377365:H8Y	ENSP00000231668:H8Y	H	+	1	0	BNIP1	172504176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.105000	0.71505	2.645000	0.89757	0.655000	0.94253	CAC		PASS	0.612	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		5	11	5	11	---	---	---	---
CPLX2	10814	broad.mit.edu	37	5	175306946	175306946	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:175306946C>T	ENST00000359546.4	+	5	946	c.303C>T	c.(301-303)atC>atT	p.I101I	CPLX2_ENST00000515094.1_Silent_p.I101I|CPLX2_ENST00000393745.3_Silent_p.I101I	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	101					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)		p.I101I(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGAAGGCCATCCCTGCGGGCT	0.627																																						uc003mde.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(301-303)ATC>ATT		complexin 2							34.0	39.0	37.0					5																	175306946		2203	4300	6503	SO:0001819	synonymous_variant	10814				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		g.chr5:175306946C>T	U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.303C>T	5.37:g.175306946C>T						CPLX2_uc003mdf.1_Silent_p.I101I	p.I101I	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		5	649	+	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	101					B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Silent	SNP	ENST00000359546.4	37	c.303C>T	CCDS4396.1																																																																																				PASS	0.627	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			4	7	4	7	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176016139	176016139	+	Silent	SNP	G	G	A	rs35355598	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176016139G>A	ENST00000510636.1	+	22	3238	c.2964G>A	c.(2962-2964)tcG>tcA	p.S988S	CDHR2_ENST00000261944.5_Silent_p.S988S|CDHR2_ENST00000506348.1_Silent_p.S988S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	988	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S988S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGTCTTCTCGATCTTCACCT	0.597																																						uc003mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2962-2964)TCG>TCA		protocadherin LKC precursor							195.0	191.0	192.0					5																	176016139		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016139G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2964G>A	5.37:g.176016139G>A						CDHR2_uc003men.1_Silent_p.S988S	p.S988S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			22	3030	+			988			Extracellular (Potential).|Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.2964G>A	CCDS34297.1																																																																																				PASS	0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		23	141	23	141	---	---	---	---
SNCB	6620	broad.mit.edu	37	5	176047818	176047818	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176047818C>T	ENST00000310112.3	-	7	649	c.399G>A	c.(397-399)gaG>gaA	p.E133E	SNCB_ENST00000506696.1_Silent_p.E133E|SNCB_ENST00000393693.2_Silent_p.E133E|SNCB_ENST00000510387.1_Silent_p.E133E	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	133					dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)	p.E133E(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCTACGCCTCTGGCTCAT	0.607																																						uc003mep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(397-399)GAG>GAA		beta-synuclein							45.0	52.0	50.0					5																	176047818		2203	4300	6503	SO:0001819	synonymous_variant	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176047818C>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.399G>A	5.37:g.176047818C>T						SNCB_uc003meq.2_Silent_p.E133E	p.E133E	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	842	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	133					Q6IAX7	Silent	SNP	ENST00000310112.3	37	c.399G>A	CCDS4406.1																																																																																				PASS	0.607	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		11	21	11	21	---	---	---	---
SNCB	6620	broad.mit.edu	37	5	176048305	176048305	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176048305C>T	ENST00000310112.3	-	6	533		c.e6-1		SNCB_ENST00000506696.1_Splice_Site|SNCB_ENST00000393693.2_Splice_Site|SNCB_ENST00000510387.1_Splice_Site	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta						dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)	p.?(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCTCTGGCTGTGGGCAGA	0.597																																						uc003mep.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-1		beta-synuclein							48.0	46.0	46.0					5																	176048305		2203	4300	6503	SO:0001630	splice_region_variant	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176048305C>T	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.283-1G>A	5.37:g.176048305C>T						SNCB_uc003meq.2_Splice_Site_p.P95_splice|SNCB_uc010jke.1_Intron	p.P95_splice	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	726	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)						Q6IAX7	Splice_Site	SNP	ENST00000310112.3	37	c.283_splice	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157329	0.78114	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9454	0.92620	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNCB	175980911	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.034000	0.70933	2.483000	0.83821	0.655000	0.94253	.		PASS	0.597	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502	Intron	3	6	3	6	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176316539	176316539	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176316539C>T	ENST00000292432.5	-	8	848	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	253	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.E253K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGCCTCCTCCATGTAACAC	0.632																																						uc003mfa.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(757-759)GAG>AAG		hexokinase 3							124.0	99.0	107.0					5																	176316539		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316539C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.757G>A	5.37:g.176316539C>T	ENSP00000292432:p.Glu253Lys					HK3_uc003mez.2_5'UTR	p.E253K	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	849	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	253			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.757G>A	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571597	0.86542	.	.	ENSG00000160883	ENST00000292432	D	0.97811	-4.55	5.58	4.7	0.59300	Hexokinase, C-terminal (1);	0.000000	0.53938	D	0.000045	D	0.98991	0.9656	M	0.93854	3.465	0.46096	D	0.998865	D	0.76494	0.999	D	0.70487	0.969	D	0.99323	1.0907	10	0.87932	D	0	-26.8489	16.1567	0.81673	0.0:0.8661:0.1339:0.0	.	253	P52790	HXK3_HUMAN	K	253	ENSP00000292432:E253K	ENSP00000292432:E253K	E	-	1	0	HK3	176249145	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.610000	0.82949	1.341000	0.45600	0.561000	0.74099	GAG		PASS	0.632	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			15	13	15	13	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638381	176638381	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176638381C>T	ENST00000439151.2	+	5	3026	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	NSD1_ENST00000354179.4_Missense_Mutation_p.S725F|NSD1_ENST00000361032.4_Missense_Mutation_p.S891F|NSD1_ENST00000347982.4_Missense_Mutation_p.S725F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	994					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S994F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGTCTGCTTCCCTACCTGGC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(2980-2982)TCC>TTC		nuclear receptor binding SET domain protein 1							103.0	99.0	100.0					5																	176638381		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638381C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2981C>T	5.37:g.176638381C>T	ENSP00000395929:p.Ser994Phe	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.S725F|NSD1_uc003mfs.1_Missense_Mutation_p.S891F|NSD1_uc011dfx.1_Missense_Mutation_p.S642F	p.S994F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3119	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	994					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2981C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	2.771	-0.255611	0.05829	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93488	-3.12;-3.12;-3.12;-3.23	4.7	4.7	0.59300	.	0.692679	0.13393	N	0.391269	D	0.86793	0.6018	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32526	0.23;0.374;0.148	B;B;B	0.30495	0.116;0.116;0.033	T	0.76780	-0.2833	9	.	.	.	.	10.5841	0.45273	0.192:0.808:0.0:0.0	.	725;891;994	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	F	725;994;725;891	ENSP00000346111:S725F;ENSP00000395929:S994F;ENSP00000343209:S725F;ENSP00000354310:S891F	.	S	+	2	0	NSD1	176570987	0.007000	0.16637	0.007000	0.13788	0.033000	0.12548	2.127000	0.42035	2.601000	0.87937	0.563000	0.77884	TCC		PASS	0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		20	62	20	62	---	---	---	---
SLC34A1	6569	broad.mit.edu	37	5	176824994	176824994	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:176824994G>A	ENST00000324417.5	+	13	1718	c.1627G>A	c.(1627-1629)Ggt>Agt	p.G543S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	543					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.G543S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCATGGTAGGTGTGGGCAC	0.607																																						uc003mgk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1627-1629)GGT>AGT		solute carrier family 34 (sodium phosphate),							131.0	122.0	125.0					5																	176824994		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824994G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1627G>A	5.37:g.176824994G>A	ENSP00000321424:p.Gly543Ser						p.G543S	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1728	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	543			Helical; Name=M8; (Potential).		B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1627G>A	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730071	0.48939	.	.	ENSG00000131183	ENST00000324417	T	0.32753	1.44	5.22	5.22	0.72569	.	0.054554	0.64402	D	0.000001	T	0.33147	0.0853	L	0.49126	1.545	0.47698	D	0.999491	P	0.45283	0.855	B	0.41135	0.348	T	0.06698	-1.0812	10	0.35671	T	0.21	-31.7894	18.7764	0.91912	0.0:0.0:1.0:0.0	.	543	Q06495	NPT2A_HUMAN	S	543	ENSP00000321424:G543S	ENSP00000321424:G543S	G	+	1	0	SLC34A1	176757600	1.000000	0.71417	0.598000	0.28837	0.431000	0.31685	7.856000	0.86956	2.426000	0.82243	0.305000	0.20034	GGT		PASS	0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		7	28	7	28	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177666180	177666180	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:177666180C>T	ENST00000390654.3	-	28	1939	c.1582G>A	c.(1582-1584)Ggc>Agc	p.G528S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	528	Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G528S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGTCGGGGCCCTGGAAAGGA	0.657																																						uc003mje.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1582-1584)GGC>AGC		collagen, type XXIII, alpha 1							56.0	64.0	62.0					5																	177666180		1932	4127	6059	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177666180C>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1582-1G>A	5.37:g.177666180C>T						COL23A1_uc010jkt.2_Missense_Mutation_p.G410S	p.G528S	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	28	1940	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	528			Extracellular (Potential).|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.1582G>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734024	0.69189	.	.	ENSG00000050767	ENST00000390654	D	0.96913	-4.17	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.95239	0.8456	M	0.75884	2.315	0.80722	D	1	B	0.23058	0.079	B	0.14023	0.01	D	0.93538	0.6875	10	0.66056	D	0.02	-4.6288	14.4016	0.67050	0.0:1.0:0.0:0.0	.	528	Q86Y22	CONA1_HUMAN	S	528	ENSP00000375069:G528S	ENSP00000375069:G528S	G	-	1	0	COL23A1	177598786	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.585000	0.67497	2.547000	0.85894	0.491000	0.48974	GGC		PASS	0.657	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	Missense_Mutation	8	20	8	20	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178391721	178391721	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:178391721G>A	ENST00000320129.3	+	5	619	c.316G>A	c.(316-318)Gat>Aat	p.D106N	ZNF454_ENST00000519564.1_Missense_Mutation_p.D106N	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	106					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.D106N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGAAGAATTGGATCAATGGAC	0.428																																						uc003mjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(316-318)GAT>AAT		zinc finger protein 454							57.0	58.0	58.0					5																	178391721		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391721G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.316G>A	5.37:g.178391721G>A	ENSP00000326249:p.Asp106Asn					ZNF454_uc010jkz.1_Missense_Mutation_p.D106N	p.D106N	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	587	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	106					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.316G>A	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	6.054	0.378366	0.11466	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.06768	3.26;3.26	4.94	2.97	0.34412	.	0.626467	0.13182	N	0.407467	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.19391	0.025	T	0.44832	-0.9302	10	0.15952	T	0.53	-3.0358	7.2756	0.26281	0.0:0.1747:0.6193:0.206	.	106	Q8N9F8	ZN454_HUMAN	N	106	ENSP00000326249:D106N;ENSP00000430354:D106N	ENSP00000326249:D106N	D	+	1	0	ZNF454	178324327	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.283000	0.18846	1.272000	0.44329	0.650000	0.86243	GAT		PASS	0.428	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		6	40	6	40	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413751	178413751	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:178413751C>T	ENST00000517717.1	-	9	1542	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	GRM6_ENST00000231188.5_Missense_Mutation_p.E502K|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	502					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.E502K(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCAGGGCCTCCACCTGGGAC	0.687																																						uc003mjr.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1504-1506)GAG>AAG		glutamate receptor, metabotropic 6 precursor							30.0	33.0	32.0					5																	178413751		2203	4299	6502	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413751C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1504G>A	5.37:g.178413751C>T	ENSP00000430767:p.Glu502Lys					GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.E85K|GRM6_uc003mjs.1_Missense_Mutation_p.E122K	p.E502K	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1683	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	502			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1504G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160425	0.57368	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86230	-2.09;-2.09	4.74	4.74	0.60224	.	.	.	.	.	D	0.87609	0.6220	L	0.47190	1.495	0.48830	D	0.999714	P;B	0.45634	0.863;0.034	P;B	0.49922	0.626;0.018	D	0.87676	0.2544	9	0.45353	T	0.12	.	15.5896	0.76517	0.0:1.0:0.0:0.0	.	658;502	E7EX65;O15303	.;GRM6_HUMAN	K	658;502;502	ENSP00000231188:E502K;ENSP00000430767:E502K	ENSP00000231188:E502K	E	-	1	0	GRM6	178346357	1.000000	0.71417	0.984000	0.44739	0.774000	0.43823	5.938000	0.70170	2.339000	0.79563	0.462000	0.41574	GAG		PASS	0.687	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	19	4	19	---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179302150	179302150	+	Silent	SNP	C	C	T	rs373469445		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:179302150C>T	ENST00000356834.3	-	12	1975	c.1938G>A	c.(1936-1938)acG>acA	p.T646T	TBC1D9B_ENST00000355235.3_Silent_p.T646T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	646	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.T646T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGTCTCTCGTGAGCTCTT	0.632																																						uc003mlh.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(1936-1938)ACG>ACA		TBC1 domain family, member 9B (with GRAM domain)		C	,	2,4404	4.2+/-10.8	0,2,2201	65.0	64.0	65.0		1938,1938	-10.1	0.1	5		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TBC1D9B	NM_015043.3,NM_198868.2	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	646/1234,646/1251	179302150	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179302150C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1938G>A	5.37:g.179302150C>T						TBC1D9B_uc003mli.2_Silent_p.T646T|TBC1D9B_uc003mlj.2_Silent_p.T646T|TBC1D9B_uc011dgv.1_5'Flank	p.T646T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1975	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	646			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.1938G>A	CCDS43408.1																																																																																				PASS	0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		7	30	7	30	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179765571	179765571	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:179765571G>A	ENST00000253778.8	-	2	206	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	13	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.P13S(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTCGTCCGGGGGACTCTGTAG	0.532																																						uc003mlw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(37-39)CCC>TCC		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						44.0	49.0	48.0					5																	179765571		1967	4144	6111	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179765571G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.37C>T	5.37:g.179765571G>A	ENSP00000253778:p.Pro13Ser						p.P13S	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	135	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	13			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.37C>T	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638387	0.87760	.	.	ENSG00000131459	ENST00000253778	T	0.42131	0.98	5.72	5.72	0.89469	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.050990	0.85682	D	0.000000	T	0.66036	0.2749	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.64504	-0.6392	9	.	.	.	-27.118	19.4925	0.95056	0.0:0.0:1.0:0.0	.	13	O94808	GFPT2_HUMAN	S	13	ENSP00000253778:P13S	.	P	-	1	0	GFPT2	179698177	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.365000	0.66116	2.702000	0.92279	0.555000	0.69702	CCC		PASS	0.532	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		5	16	5	16	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180047186	180047186	+	Silent	SNP	C	C	T	rs201756397		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:180047186C>T	ENST00000261937.6	-	17	2607	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E	FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Silent_p.E843E|FLT4_ENST00000393347.3_Silent_p.E843E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	843					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E843E(2)|p.E653E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTGCAGCCGCTCTCGGGGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16016	0.0		0.001	False		,,,				2504	0.0				Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			3	Substitution - coding silent(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(2527-2529)GAG>GAA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						52.0	52.0	52.0					5																	180047186		2201	4296	6497	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180047186C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2529G>A	5.37:g.180047186C>T						FLT4_uc003mlz.3_Silent_p.E843E|FLT4_uc003mmb.1_Silent_p.E376E	p.E843E	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	17	2608	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	843			Cytoplasmic (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2529G>A	CCDS4457.1																																																																																				PASS	0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			12	13	12	13	---	---	---	---
OR2Y1	134083	broad.mit.edu	37	5	180166858	180166858	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:180166858G>A	ENST00000307832.2	-	1	241	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCCAGGAGGGACAGATGAG	0.572																																						uc003mmf.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(199-201)TCC>TCT		olfactory receptor, family 2, subfamily Y,							82.0	77.0	78.0					5																	180166858		2203	4300	6503	SO:0001819	synonymous_variant	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166858G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.201C>T	5.37:g.180166858G>A							p.S67S	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	201	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	67			Helical; Name=2; (Potential).		B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	c.201C>T	CCDS34323.1																																																																																				PASS	0.572	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		11	32	11	32	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180377022	180377022	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:180377022G>A	ENST00000340184.4	+	8	1187	c.981G>A	c.(979-981)agG>agA	p.R327R	BTNL8_ENST00000400707.3_Silent_p.R202R|BTNL8_ENST00000505126.1_Silent_p.R120R|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Silent_p.R211R|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Silent_p.R143R	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R327R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATTTACAAGGAAGAGTGTGG	0.527																																						uc003mmp.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(979-981)AGG>AGA		butyrophilin-like 8 isoform 2 precursor							75.0	76.0	76.0					5																	180377022		2141	3936	6077	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180377022G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.981G>A	5.37:g.180377022G>A						BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Silent_p.R202R|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Silent_p.R211R|BTNL8_uc011dhh.1_Silent_p.R143R	p.R327R	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1215	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	327			B30.2/SPRY.|Cytoplasmic (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.981G>A	CCDS43413.1																																																																																				PASS	0.527	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		15	37	15	37	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180475255	180475255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:180475255G>A	ENST00000327705.9	+	3	669	c.438G>A	c.(436-438)tgG>tgA	p.W146*	BTNL9_ENST00000376842.3_Nonsense_Mutation_p.W146*|BTNL9_ENST00000376841.2_Nonsense_Mutation_p.W146*|BTNL9_ENST00000515271.1_Nonsense_Mutation_p.W77*	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	146						integral component of membrane (GO:0016021)		p.W146*(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCTCTGGGAACTGGAGG	0.572																																						uc003mmt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(436-438)TGG>TGA		butyrophilin-like 9 precursor							42.0	37.0	39.0					5																	180475255		2203	4297	6500	SO:0001587	stop_gained	153579					integral to membrane		g.chr5:180475255G>A	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.438G>A	5.37:g.180475255G>A	ENSP00000330200:p.Trp146*					BTNL9_uc011dhi.1_Nonsense_Mutation_p.W77*	p.W146*	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	669	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	146			Extracellular (Potential).		A6NL42|Q6P660|Q96DM5	Nonsense_Mutation	SNP	ENST00000327705.9	37	c.438G>A	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	G	17.60	3.428898	0.62844	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	.	.	.	5.01	4.15	0.48705	.	0.000000	0.36815	N	0.002391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.9529	0.52964	0.0871:0.0:0.9129:0.0	.	.	.	.	X	146;146;146;146;77	.	ENSP00000330200:W146X	W	+	3	0	BTNL9	180407861	1.000000	0.71417	0.873000	0.34254	0.000000	0.00434	3.946000	0.56644	1.448000	0.47680	-0.142000	0.14014	TGG		PASS	0.572	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		6	17	6	17	---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582831	180582831	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr5:180582831G>A	ENST00000328275.1	+	1	889	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E297K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGAACAGGGAGGTGATGGG	0.602																																						uc011dhj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(889-891)GAG>AAG		olfactory receptor, family 2, subfamily V,							38.0	41.0	40.0					5																	180582831		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582831G>A	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.889G>A	5.37:g.180582831G>A	ENSP00000332185:p.Glu297Lys						p.E297K	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	889	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	297			Cytoplasmic (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.889G>A	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081136	0.36758	.	.	ENSG00000182613	ENST00000328275	T	0.38077	1.16	3.48	3.48	0.39840	.	0.416955	0.17613	N	0.167988	T	0.41236	0.1150	M	0.82823	2.61	0.35652	D	0.811869	P	0.39665	0.682	B	0.35182	0.197	T	0.64080	-0.6491	10	0.87932	D	0	.	12.8255	0.57716	0.0:0.0:1.0:0.0	.	297	Q96R30	OR2V2_HUMAN	K	297	ENSP00000332185:E297K	ENSP00000332185:E297K	E	+	1	0	OR2V2	180515437	1.000000	0.71417	0.102000	0.21198	0.162000	0.22319	4.742000	0.62103	1.940000	0.56252	0.305000	0.20034	GAG		PASS	0.602	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			7	25	7	25	---	---	---	---
FOXC1	2296	broad.mit.edu	37	6	1611181	1611181	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:1611181C>T	ENST00000380874.2	+	1	501	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	167					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F167F(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACGGCAGCTTCCTGCGGCGGC	0.662																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(499-501)TTC>TTT		forkhead box C1							32.0	35.0	34.0					6																	1611181		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611181C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.501C>T	6.37:g.1611181C>T							p.F167F	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	501	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	167			Fork-head.		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.501C>T	CCDS4473.1																																																																																				PASS	0.662	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			8	28	8	28	---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2948542	2948542	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:2948542G>A	ENST00000380520.1	-	6	3115	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	SERPINB6_ENST00000380529.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380539.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380524.1_Missense_Mutation_p.S374F|SERPINB6_ENST00000380546.3_Missense_Mutation_p.S374F|SERPINB6_ENST00000335686.5_Missense_Mutation_p.S374F			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	374					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S374F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCACGGAGAGGAAAAGCGGCC	0.602																																						uc003muk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1120-1122)TCC>TTC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						53.0	55.0	54.0					6																	2948542		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948542G>A	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.1121C>T	6.37:g.2948542G>A	ENSP00000369891:p.Ser374Phe					SERPINB6_uc003mui.2_Missense_Mutation_p.S257F|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.S374F|SERPINB6_uc003mum.2_Missense_Mutation_p.S374F|SERPINB6_uc003mun.2_Missense_Mutation_p.S374F|SERPINB6_uc003muo.2_Missense_Mutation_p.S374F	p.S374F	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	3116	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	374					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.1121C>T	CCDS4479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.383533|2.383533	0.42207|0.42207	.|.	.|.	ENSG00000124570|ENSG00000124570	ENST00000380500|ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670	.|D;D;D;D;D;D	.|0.84442	.|-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.01|5.01	2.0|2.0	0.26442|0.26442	.|Serpin domain (3);	.|0.314786	.|0.39083	.|N	.|0.001466	D|D	0.82623|0.82623	0.5077|0.5077	M|M	0.84948|0.84948	2.725|2.725	0.09310|0.09310	N|N	1|1	.|B	.|0.24132	.|0.098	.|B	.|0.35688	.|0.208	T|T	0.80046|0.80046	-0.1546|-0.1546	5|10	.|0.66056	.|D	.|0.02	.|.	15.6355|15.6355	0.76949|0.76949	0.0:0.5011:0.4989:0.0|0.0:0.5011:0.4989:0.0	.|.	.|374	.|P35237	.|SPB6_HUMAN	S|F	179|374;374;374;374;374;374;190	.|ENSP00000369896:S374F;ENSP00000369891:S374F;ENSP00000338358:S374F;ENSP00000369901:S374F;ENSP00000369912:S374F;ENSP00000369919:S374F	.|ENSP00000338358:S374F	P|S	-|-	1|2	0|0	SERPINB6|SERPINB6	2893541|2893541	0.000000|0.000000	0.05858|0.05858	0.337000|0.337000	0.25536|0.25536	0.129000|0.129000	0.20672|0.20672	0.144000|0.144000	0.16135|0.16135	0.776000|0.776000	0.33473|0.33473	0.551000|0.551000	0.68910|0.68910	CCT|TCC		PASS	0.602	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			15	21	15	21	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231821	7231821	+	Silent	SNP	C	C	T	rs200032827		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:7231821C>T	ENST00000349384.6	+	10	3803	c.3489C>T	c.(3487-3489)ccC>ccT	p.P1163P	RREB1_ENST00000379933.3_Silent_p.P1163P|RREB1_ENST00000334984.6_Silent_p.P1163P|RREB1_ENST00000379938.2_Silent_p.P1163P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1163					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1163P(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGCCGACCCCGCGCCAACA	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13923	0.0		0.0	False		,,,				2504	0.0					uc003mxc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3487-3489)CCC>CCT		ras responsive element binding protein 1 isoform							10.0	14.0	13.0					6																	7231821		2166	4227	6393	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231821C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3489C>T	6.37:g.7231821C>T						RREB1_uc003mxb.2_Silent_p.P1163P|RREB1_uc010jnx.2_Silent_p.P1163P	p.P1163P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3879	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1163					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3489C>T	CCDS34336.1																																																																																				PASS	0.667	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	5	4	5	---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231916	7231916	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:7231916C>T	ENST00000349384.6	+	10	3898	c.3584C>T	c.(3583-3585)cCg>cTg	p.P1195L	RREB1_ENST00000379933.3_Missense_Mutation_p.P1195L|RREB1_ENST00000334984.6_Missense_Mutation_p.P1195L|RREB1_ENST00000379938.2_Missense_Mutation_p.P1195L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1195					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1195L(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAGTTCAGTCCGTTTCTGCAG	0.637																																						uc003mxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(3583-3585)CCG>CTG		ras responsive element binding protein 1 isoform							34.0	36.0	35.0					6																	7231916		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231916C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3584C>T	6.37:g.7231916C>T	ENSP00000305560:p.Pro1195Leu					RREB1_uc003mxb.2_Missense_Mutation_p.P1195L|RREB1_uc010jnx.2_Missense_Mutation_p.P1195L	p.P1195L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3974	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1195					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.3584C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013755	0.75161	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.12774	2.73;2.7;2.73;2.65	5.6	4.72	0.59763	.	0.000000	0.64402	D	0.000016	T	0.15089	0.0364	M	0.63843	1.955	0.80722	D	1	D;D;D	0.63046	0.992;0.986;0.992	P;P;P	0.51453	0.579;0.47;0.67	T	0.01146	-1.1437	10	0.51188	T	0.08	-41.3896	14.7698	0.69668	0.0:0.9298:0.0:0.0702	.	1195;1195;1195	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	1195	ENSP00000369265:P1195L;ENSP00000369270:P1195L;ENSP00000305560:P1195L;ENSP00000335574:P1195L	ENSP00000335574:P1195L	P	+	2	0	RREB1	7176915	0.902000	0.30710	0.704000	0.30370	0.934000	0.57294	3.623000	0.54224	1.324000	0.45282	0.655000	0.94253	CCG		PASS	0.637	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	20	5	20	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10529189	10529190	+	Missense_Mutation	DNP	CT	CT	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:10529189_10529190CT>TA	ENST00000379597.3	+	1	601_602	c.45_46CT>TA	c.(43-48)atCTct>atTAct	p.S16T	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S16T			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	16					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S16T(2)|p.I15I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CGTCTCTTATCTCTGCCCTGAT	0.416																																						uc010joo.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.S15N(1)|	lung(3)	ovary(2)	2						c.(43-45)ATC>ATT|c.(46-48)TCT>ACT		glucosaminyl (N-acetyl) transferase 2,																																				SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529189C>T|g.chr6:10529190T>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	Exception_encountered	6.37:g.10529189_10529190delinsTA	ENSP00000368917:p.Ser16Thr					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.I14I|GCNT2_uc010jon.2_Silent_p.I14I|GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.S15T|GCNT2_uc010jon.2_Missense_Mutation_p.S15T	p.I15I|p.S16T	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	596|597	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	15|16			Helical; Signal-anchor for type II membrane protein; (Potential).			Silent|Missense_Mutation	SNP	ENST00000379597.3	37	c.45C>T|c.46T>A	CCDS34338.1																																																																																				PASS	0.416	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		16	35	16	35	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12164203	12164204	+	Missense_Mutation	DNP	CC	CC	TT	rs372005798		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:12164203_12164204CC>TT	ENST00000379388.2	+	9	7998_7999	c.7666_7667CC>TT	c.(7666-7668)CCc>TTc	p.P2556F	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P421F	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2556					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.P2556L(1)|p.P2556F(1)|p.P2556S(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)				CACCTTAATCCCCTCAGTCAGT	0.535																																						uc003nac.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(7666-7668)CCC>TCC|c.(7666-7668)CCC>CTC		human immunodeficiency virus type I enhancer																																				SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164203C>T|g.chr6:12164204C>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	Exception_encountered	6.37:g.12164203_12164204delinsTT	ENSP00000368698:p.Pro2556Phe					HIVEP1_uc011diq.1_RNA	p.P2556S|p.P2556L	NM_002114	NP_002105	P15822	ZEP1_HUMAN			9	7845|7846	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2556					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7666C>T|c.7667C>T	CCDS43426.1																																																																																				PASS	0.535	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		16	32|31	16	31	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15496635	15496635	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:15496635C>T	ENST00000341776.2	+	7	1423	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	JARID2_ENST00000397311.3_Silent_p.L221L|JARID2_ENST00000541660.1_Silent_p.L355L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	393					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L393L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGT	0.577																																						uc003nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(1177-1179)CTC>CTT		jumonji, AT rich interactive domain 2 protein							72.0	78.0	76.0					6																	15496635		2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496635C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1179C>T	6.37:g.15496635C>T						JARID2_uc011diu.1_Silent_p.L257L|JARID2_uc011div.1_Silent_p.L221L|JARID2_uc011diw.1_Silent_p.L355L	p.L393L	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1423	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	393					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1179C>T	CCDS4533.1																																																																																				PASS	0.577	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		29	36	29	36	---	---	---	---
CAP2	10486	broad.mit.edu	37	6	17543180	17543180	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:17543180C>T	ENST00000229922.2	+	10	1647	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	CAP2_ENST00000489374.1_Missense_Mutation_p.S260F|CAP2_ENST00000465994.1_Missense_Mutation_p.S308F|CAP2_ENST00000493172.1_Missense_Mutation_p.S112F|CAP2_ENST00000378990.2_Missense_Mutation_p.S346F	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	372	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.S372F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AAAGTAAACTCCATTATAATT	0.333																																						uc003ncb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1114-1116)TCC>TTC		adenylyl cyclase-associated protein 2							117.0	113.0	115.0					6																	17543180		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17543180C>T	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1115C>T	6.37:g.17543180C>T	ENSP00000229922:p.Ser372Phe					CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.S346F|CAP2_uc011djb.1_Missense_Mutation_p.S308F|CAP2_uc011djc.1_Missense_Mutation_p.S260F|CAP2_uc011djd.1_Missense_Mutation_p.S112F	p.S372F	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		10	1358	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	372			C-CAP/cofactor C-like.		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1115C>T	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.140464	0.77775	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.11169	2.87;2.81;2.86;2.8	5.85	4.97	0.65823	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.85;0.999;1.0;1.0	T	0.50800	-0.8785	10	0.87932	D	0	-13.0992	16.2905	0.82750	0.1336:0.8664:0.0:0.0	.	112;260;308;346;372	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	F	372;289;260;346;112;308	ENSP00000229922:S372F;ENSP00000417705:S260F;ENSP00000368275:S346F;ENSP00000418604:S308F	ENSP00000229922:S372F	S	+	2	0	CAP2	17651159	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.818000	0.86416	1.458000	0.47871	0.561000	0.74099	TCC		PASS	0.333	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			31	57	31	57	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17809080	17809080	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:17809080G>A	ENST00000259711.6	-	18	2187	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	KIF13A_ENST00000378826.2_Silent_p.F694F|KIF13A_ENST00000378843.2_Silent_p.F694F|KIF13A_ENST00000378816.5_Silent_p.F694F|KIF13A_ENST00000378814.5_Silent_p.F694F	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	694					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F694F(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTCAGCCAGGAAGTTTGCTT	0.473																																						uc003ncg.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(2080-2082)TTC>TTT		kinesin family member 13A isoform a							100.0	94.0	96.0					6																	17809080		1921	4135	6056	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17809080G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2082C>T	6.37:g.17809080G>A						KIF13A_uc003ncf.2_Silent_p.F694F|KIF13A_uc003nch.3_Silent_p.F694F|KIF13A_uc003nci.3_Silent_p.F694F	p.F694F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		18	2187	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	694			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2082C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190419	0.21954	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.38	3.6	0.41247	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46428	-0.9192	4	.	.	.	.	11.2576	0.49063	0.1467:0.0:0.8533:0.0	.	.	.	.	F	88	.	.	S	-	2	0	KIF13A	17917059	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	3.228000	0.51270	0.644000	0.30656	0.563000	0.77884	TCC		PASS	0.473	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			16	22	16	22	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24278332	24278332	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:24278332C>T	ENST00000378454.3	-	7	1168	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	289					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.T289T(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GTTTCAATTTCGTCAGTTTTT	0.348																																						uc003ndx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(865-867)ACG>ACA		doublecortin domain containing 2							150.0	144.0	146.0					6																	24278332		2203	4300	6503	SO:0001819	synonymous_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24278332C>T	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.867G>A	6.37:g.24278332C>T						DCDC2_uc003ndy.2_Silent_p.T289T	p.T289T	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			7	1169	-		Ovarian(999;0.101)	289					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	ENST00000378454.3	37	c.867G>A	CCDS4550.1																																																																																				PASS	0.348	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356		9	16	9	16	---	---	---	---
ALDH5A1	7915	broad.mit.edu	37	6	24505195	24505195	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:24505195C>T	ENST00000357578.3	+	4	853	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ALDH5A1_ENST00000348925.2_Silent_p.S236S|ALDH5A1_ENST00000491546.1_Silent_p.S208S|ALDH5A1_ENST00000546278.1_Silent_p.S148S	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	236					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.S236S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CGCCCTTCTCCGCCCTGGCCC	0.557																																						uc003neg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)TCC>TCT		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						70.0	74.0	73.0					6																	24505195		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505195C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.708C>T	6.37:g.24505195C>T						ALDH5A1_uc003nef.2_Silent_p.S236S	p.S236S	NM_001080	NP_001071	P51649	SSDH_HUMAN			4	736	+			236					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.708C>T	CCDS4555.1																																																																																				PASS	0.557	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			13	25	13	25	---	---	---	---
C6orf62	81688	broad.mit.edu	37	6	24714623	24714623	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:24714623G>A	ENST00000378119.4	-	3	2519	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	C6orf62_ENST00000378102.3_Missense_Mutation_p.R89W|C6orf62_ENST00000540769.1_Missense_Mutation_p.R60W	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	118						intracellular (GO:0005622)		p.R118W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						ATATCATTCCGAGGCCAAAGA	0.348																																						uc003nel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)CGG>TGG		hypothetical protein LOC81688							75.0	78.0	77.0					6																	24714623		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24714623G>A	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.352C>T	6.37:g.24714623G>A	ENSP00000367359:p.Arg118Trp						p.R118W	NM_030939	NP_112201	Q9GZU0	CF062_HUMAN			3	859	-			118					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.352C>T	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986268	0.93044	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.42900	0.96;0.96;0.96	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	P	0.47744	0.556	T	0.07347	-1.0777	10	0.72032	D	0.01	-10.902	14.8462	0.70261	0.0:0.0:0.8562:0.1438	.	118	Q9GZU0	CF062_HUMAN	W	118;60;89	ENSP00000367359:R118W;ENSP00000446225:R60W;ENSP00000367342:R89W	ENSP00000367342:R89W	R	-	1	2	C6orf62	24822602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.774000	0.85478	2.814000	0.96858	0.591000	0.81541	CGG		PASS	0.348	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		29	43	29	43	---	---	---	---
SLC17A3	10786	broad.mit.edu	37	6	25850059	25850059	+	Nonsense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:25850059A>T	ENST00000360657.3	-	9	1296	c.1011T>A	c.(1009-1011)taT>taA	p.Y337*	SLC17A3_ENST00000361703.6_Nonsense_Mutation_p.Y337*|SLC17A3_ENST00000397060.4_Nonsense_Mutation_p.Y415*			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	337					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.Y415*(1)|p.Y337*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGACATTGATATAAATCCCTG	0.423																																						uc003nfi.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1009-1011)TAT>TAA		solute carrier family 17 (sodium phosphate),							85.0	84.0	84.0					6																	25850059		2203	4299	6502	SO:0001587	stop_gained	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25850059A>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1011T>A	6.37:g.25850059A>T	ENSP00000353873:p.Tyr337*					SLC17A3_uc003nfk.3_Nonsense_Mutation_p.Y415*	p.Y337*	NM_006632	NP_006623	O00476	NPT4_HUMAN			9	1121	-			337			Helical; (Potential).		B7WNJ5|B7Z511|Q8WWC7|Q9H533	Nonsense_Mutation	SNP	ENST00000360657.3	37	c.1011T>A	CCDS4566.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.639|8.639	0.895400|0.895400	0.17613|0.17613	.|.	.|.	ENSG00000124564|ENSG00000124564	ENST00000481949|ENST00000397060;ENST00000360657;ENST00000361703	.|.	.|.	.|.	4.5|4.5	-6.44|-6.44	0.01920|0.01920	.|.	.|0.994417	.|0.08154	.|N	.|0.989523	T|.	0.02688|.	0.0081|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29243|.	-1.0018|.	3|.	.|0.02654	.|T	.|1	.|.	7.5044|7.5044	0.27536|0.27536	0.3584:0.0:0.5089:0.1327|0.3584:0.0:0.5089:0.1327	.|.	.|.	.|.	.|.	K|X	16|415;337;337	.|.	.|ENSP00000353873:Y337X	I|Y	-|-	2|3	0|2	SLC17A3|SLC17A3	25958038|25958038	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-1.502000|-1.502000	0.02279|0.02279	-1.380000|-1.380000	0.02115|0.02115	-2.322000|-2.322000	0.00252|0.00252	ATA|TAT		PASS	0.423	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			19	27	19	27	---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26406243	26406243	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:26406243G>A	ENST00000289361.6	+	3	560	c.192G>A	c.(190-192)gaG>gaA	p.E64E	BTN3A1_ENST00000425234.2_Silent_p.E64E|BTN3A1_ENST00000414912.2_Silent_p.E64E|BTN3A1_ENST00000476549.2_Silent_p.E64E	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	64	Ig-like V-type 1.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E64E(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGACCATGGAGCTGAAGTGGG	0.562																																						uc003nhv.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(190-192)GAG>GAA		butyrophilin, subfamily 3, member A1 isoform a							93.0	145.0	128.0					6																	26406243		2201	4298	6499	SO:0001819	synonymous_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26406243G>A	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.192G>A	6.37:g.26406243G>A						BTN3A1_uc011dkj.1_Silent_p.E64E|BTN3A1_uc011dkk.1_Silent_p.E64E|BTN3A1_uc010jqj.2_Silent_p.E64E	p.E64E	NM_007048	NP_008979	O00481	BT3A1_HUMAN			3	560	+			64			Ig-like V-type 1.|Extracellular (Potential).		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.192G>A	CCDS4608.1																																																																																				PASS	0.562	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			40	44	40	44	---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26444264	26444264	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:26444264C>T	ENST00000244519.2	+	4	408	c.165C>T	c.(163-165)ttC>ttT	p.F55F	BTN3A3_ENST00000361232.3_Silent_p.F13F|BTN3A3_ENST00000339789.4_Silent_p.F13F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	55	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.F55F(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTCACCTGTTCCCGACCATGA	0.577																																						uc003nhz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)TTC>TTT		butyrophilin, subfamily 3, member A3 isoform a							149.0	129.0	136.0					6																	26444264		2201	4298	6499	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26444264C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.165C>T	6.37:g.26444264C>T						BTN3A3_uc003nia.2_Silent_p.F13F|BTN3A3_uc011dkn.1_Silent_p.F13F	p.F55F	NM_006994	NP_008925	O00478	BT3A3_HUMAN			4	345	+			55			Extracellular (Potential).|Ig-like V-type 1.		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.165C>T	CCDS4611.1																																																																																				PASS	0.577	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		38	76	38	76	---	---	---	---
ZKSCAN4	387032	broad.mit.edu	37	6	28213072	28213072	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:28213072T>G	ENST00000377294.2	-	5	1703	c.1460A>C	c.(1459-1461)tAt>tCt	p.Y487S	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.Y332S	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	487					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.Y487S(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATTACATTTATAAGACACGGG	0.443																																						uc003nks.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1459-1461)TAT>TCT		zinc finger with KRAB and SCAN domains 4							118.0	121.0	120.0					6																	28213072		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213072T>G	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1460A>C	6.37:g.28213072T>G	ENSP00000366509:p.Tyr487Ser					ZKSCAN4_uc011dlb.1_Missense_Mutation_p.Y332S	p.Y487S	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN			5	1704	-			487			C2H2-type 6.		B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1460A>C	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201993	0.38905	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.36878	1.23;1.23	5.06	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42223	0.1193	H	0.96048	3.76	0.09310	N	1	D	0.56746	0.977	P	0.49140	0.601	T	0.53358	-0.8450	9	0.87932	D	0	.	5.495	0.16797	0.1531:0.0829:0.0:0.764	.	487	Q969J2	ZKSC4_HUMAN	S	487;332	ENSP00000366509:Y487S;ENSP00000401978:Y332S	ENSP00000366509:Y487S	Y	-	2	0	ZKSCAN4	28321051	0.025000	0.19082	0.016000	0.15963	0.749000	0.42624	0.158000	0.16422	1.057000	0.40506	0.533000	0.62120	TAT		PASS	0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		28	45	28	45	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28541122	28541122	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:28541122G>A	ENST00000452236.2	-	4	3161	c.2544C>T	c.(2542-2544)atC>atT	p.I848I	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.I848I(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaacttctttgatgcagtctt	0.433																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2542-2544)ATC>ATT		SCAN domain containing 3							156.0	145.0	149.0					6																	28541122		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541122G>A																												ENST00000452236.2:c.2544C>T	6.37:g.28541122G>A							p.I848I	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	3162	-			848						Silent	SNP	ENST00000452236.2	37	c.2544C>T	CCDS34355.1																																																																																				PASS	0.433	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			35	77	35	77	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28541310	28541310	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:28541310C>T	ENST00000452236.2	-	4	2973	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E786K(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gaacttatttctttatgtttt	0.323																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2356-2358)GAA>AAA		SCAN domain containing 3							63.0	62.0	62.0					6																	28541310		2203	4299	6502	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541310C>T																												ENST00000452236.2:c.2356G>A	6.37:g.28541310C>T	ENSP00000395259:p.Glu786Lys						p.E786K	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	2974	-			786						Missense_Mutation	SNP	ENST00000452236.2	37	c.2356G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585486	0.46110	.	.	ENSG00000232040	ENST00000452236	T	0.01474	4.85	2.13	2.13	0.27403	.	0.568590	0.15054	U	0.283153	T	0.00784	0.0026	L	0.52905	1.665	0.26975	N	0.96548	B	0.28760	0.221	B	0.24269	0.052	T	0.45483	-0.9258	10	0.33141	T	0.24	.	7.8248	0.29309	0.0:1.0:0.0:0.0	.	786	Q6R2W3	SCND3_HUMAN	K	786	ENSP00000395259:E786K	ENSP00000395259:E786K	E	-	1	0	SCAND3	28649289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.787000	0.38704	1.483000	0.48342	0.655000	0.94253	GAA		PASS	0.323	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			10	32	10	32	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543804	28543804	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:28543804G>A	ENST00000452236.2	-	3	1295	c.678C>T	c.(676-678)ttC>ttT	p.F226F	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1												p.F226F(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCTTCTGAAGAACTTTTCTC	0.348																																						uc003nlo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(676-678)TTC>TTT		SCAN domain containing 3							81.0	84.0	83.0					6																	28543804		2203	4299	6502	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543804G>A																												ENST00000452236.2:c.678C>T	6.37:g.28543804G>A							p.F226F	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1296	-			226						Silent	SNP	ENST00000452236.2	37	c.678C>T	CCDS34355.1																																																																																				PASS	0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			16	38	16	38	---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:29323094C>T	ENST00000377154.1	-	4	1178	c.879G>A	c.(877-879)agG>agA	p.R293R	OR5V1_ENST00000543825.1_Silent_p.R293R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293R(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(877-879)AGG>AGA		olfactory receptor, family 5, subfamily V,							119.0	116.0	117.0					6																	29323094		2203	4300	6503	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323094C>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.879G>A	6.37:g.29323094C>T							p.R293R	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	961	-			293			Cytoplasmic (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.879G>A	CCDS4657.1																																																																																				PASS	0.403	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			30	67	30	67	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29407862	29407863	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:29407862_29407863GG>AA	ENST00000444197.2	+	1	780_781	c.70_71GG>AA	c.(70-72)GGc>AAc	p.G24N	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G24N(1)|p.G24D(1)|p.G24S(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGACCTCCAGGGCTTGCTCTTC	0.54																																						uc011dlp.1																			3	Substitution - Missense(3)		lung(3)		0						c.(70-72)GGC>AGC|c.(70-72)GGC>GAC		olfactory receptor, family 10, subfamily C,																																				SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407862G>A|g.chr6:29407863G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	Exception_encountered	6.37:g.29407862_29407863delinsAA	ENSP00000419119:p.Gly24Asn					OR11A1_uc010jrh.1_Intron	p.G24S|p.G24D	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	70|71	+			24			Extracellular (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.70G>A|c.71G>A	CCDS34364.1																																																																																				PASS	0.540	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			18	41|42	18	41	---	---	---	---
OR2H1	26716	broad.mit.edu	37	6	29429658	29429658	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:29429658G>A	ENST00000377136.1	+	4	577	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	OR2H1_ENST00000442615.1_Missense_Mutation_p.V38M|OR2H1_ENST00000396792.2_Missense_Mutation_p.V38M|OR2H1_ENST00000377132.1_Missense_Mutation_p.V38M|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377133.1_Missense_Mutation_p.V38M			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V38M(1)		large_intestine(5)|lung(12)	17						CTTGACCCTGGTGGGCAACAC	0.527																																						uc003nmi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)GTG>ATG		olfactory receptor, family 2, subfamily H,							207.0	199.0	202.0					6																	29429658		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429658G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.112G>A	6.37:g.29429658G>A	ENSP00000366340:p.Val38Met					OR2H1_uc003nmj.1_Missense_Mutation_p.V38M|OR2H1_uc010jri.1_Intron	p.V38M	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	555	+			38			Helical; Name=1; (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.112G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	0.397	-0.920152	0.02396	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00458	7.28;7.28;7.28;7.28;7.28	2.88	-1.26	0.09376	.	0.719446	0.11385	N	0.569456	T	0.00073	0.0002	N	0.12471	0.22	0.09310	N	1	B	0.17268	0.021	B	0.17979	0.02	T	0.07290	-1.0780	10	0.40728	T	0.16	.	5.3843	0.16211	0.4937:0.3041:0.2021:0.0	.	38	Q9GZK4	OR2H1_HUMAN	M	38	ENSP00000366340:V38M;ENSP00000366337:V38M;ENSP00000393254:V38M;ENSP00000366336:V38M;ENSP00000380010:V38M	ENSP00000366336:V38M	V	+	1	0	OR2H1	29537637	0.000000	0.05858	0.004000	0.12327	0.041000	0.13682	-1.945000	0.01537	-0.327000	0.08551	0.603000	0.83216	GTG		PASS	0.527	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			35	69	35	69	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30577617	30577617	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:30577617G>A	ENST00000376511.2	-	3	657	c.105C>T	c.(103-105)ttC>ttT	p.F35F	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	35	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)	p.F35F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGACTCACCTGAAGATCTTGG	0.463																																						uc003nqn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(103-105)TTC>TTT		protein phosphatase 1, regulatory subunit 10							128.0	114.0	119.0					6																	30577617		2203	4300	6503	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30577617G>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.105C>T	6.37:g.30577617G>A						PPP1R10_uc010jsc.1_5'UTR	p.F35F	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN			3	657	-			35			Interaction with TOX4 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.105C>T	CCDS4681.1																																																																																				PASS	0.463	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		20	43	20	43	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672562	30672562	+	Silent	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:30672562G>C	ENST00000376406.3	-	10	5045	c.4398C>G	c.(4396-4398)acC>acG	p.T1466T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.T1202T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1466	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.T1466T(1)		breast(2)|kidney(1)|ovary(1)	4						TAGGCTCAGGGGTAACAGGCT	0.572								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4396-4398)ACC>ACG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							111.0	123.0	119.0					6																	30672562		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672562G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4398C>G	6.37:g.30672562G>C						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.T1073T	p.T1466T	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4838	-			1466			Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.4398C>G	CCDS34384.1																																																																																				PASS	0.572	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		38	87	38	87	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30891143	30891143	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:30891143C>T	ENST00000321897.5	+	24	2959	c.2327C>T	c.(2326-2328)tCc>tTc	p.S776F	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.S636F|VARS2_ENST00000541562.1_Missense_Mutation_p.S806F|VARS2_ENST00000416670.2_Missense_Mutation_p.S776F			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	776					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.S776F(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTCCCTCCTCCCCGATGGAT	0.662																																						uc003nsc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2326-2328)TCC>TTC		valyl-tRNA synthetase 2, mitochondrial							48.0	40.0	43.0					6																	30891143		1509	2707	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891143C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2327C>T	6.37:g.30891143C>T	ENSP00000316092:p.Ser776Phe					VARS2_uc011dmx.1_Missense_Mutation_p.S776F|VARS2_uc011dmy.1_Missense_Mutation_p.S636F|VARS2_uc011dmz.1_Missense_Mutation_p.S806F|VARS2_uc011dna.1_Missense_Mutation_p.S774F|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S214F|VARS2_uc010jsg.1_Missense_Mutation_p.S148F|VARS2_uc010jsh.1_5'UTR	p.S776F	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			24	2959	+			776					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2327C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	c	6.339	0.430567	0.12045	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.37	1.49	0.22878	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.495690	0.23945	N	0.043005	T	0.13543	0.0328	M	0.74881	2.28	0.09310	N	1	P;B;B;P	0.48640	0.913;0.271;0.391;0.458	P;B;B;B	0.53988	0.739;0.188;0.346;0.291	T	0.04522	-1.0945	10	0.87932	D	0	-8.7399	9.048	0.36358	0.0:0.4974:0.4229:0.0797	.	214;774;806;776	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	F	776;776;636;806	ENSP00000316092:S776F;ENSP00000394802:S776F;ENSP00000438200:S636F;ENSP00000441000:S806F	ENSP00000316092:S776F	S	+	2	0	VARS2	30999122	0.001000	0.12720	0.001000	0.08648	0.060000	0.15804	0.736000	0.26130	0.053000	0.16036	-1.127000	0.01993	TCC		PASS	0.662	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		12	26	12	26	---	---	---	---
MICB	4277	broad.mit.edu	37	6	31475280	31475280	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31475280G>A	ENST00000252229.6	+	5	1075	c.996G>A	c.(994-996)aaG>aaA	p.K332K	MICB_ENST00000399150.3_Silent_p.K289K|MICB_ENST00000538442.1_Silent_p.K300K	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.K332K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTGTTGCAAGAAGAAAACAT	0.473																																						uc003ntn.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(994-996)AAG>AAA		MHC class I polypeptide-related sequence B							92.0	93.0	93.0					6																	31475280		1926	4132	6058	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31475280G>A		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.996G>A	6.37:g.31475280G>A						MICB_uc011dnm.1_Silent_p.K300K|MICB_uc003nto.3_Silent_p.K289K	p.K332K	NM_005931	NP_005922	Q29980	MICB_HUMAN			5	1112	+			332			Cytoplasmic (Potential).			Silent	SNP	ENST00000252229.6	37	c.996G>A	CCDS43449.1																																																																																				PASS	0.473	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		15	28	15	28	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31590630	31590630	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31590630C>T	ENST00000376033.2	+	2	298	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	PRRC2A_ENST00000376007.4_Silent_p.L22L|PRRC2A_ENST00000469577.1_Intron|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	22						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L22L(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCGCTCAACCTGTTTGATAC	0.517																																						uc003nvb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CTG>TTG		HLA-B associated transcript-2							218.0	220.0	219.0					6																	31590630		2203	4300	6503	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31590630C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.64C>T	6.37:g.31590630C>T						BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.L22L|SNORA38_uc003nvd.2_5'Flank|BAT2_uc003nve.2_5'Flank	p.L22L	NM_080686	NP_542417	P48634	PRC2A_HUMAN			2	313	+			22					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.64C>T	CCDS4708.1																																																																																				PASS	0.517	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	175	4	175	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31603799	31603799	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31603799C>T	ENST00000376033.2	+	25	5831	c.5597C>T	c.(5596-5598)cCt>cTt	p.P1866L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1866L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1866						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1866L(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGCTTCCGCCCTGGGACACCC	0.537																																						uc003nvb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(5596-5598)CCT>CTT		HLA-B associated transcript-2							69.0	63.0	65.0					6																	31603799		2203	4300	6503	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31603799C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5597C>T	6.37:g.31603799C>T	ENSP00000365201:p.Pro1866Leu					BAT2_uc003nvc.3_Missense_Mutation_p.P1866L	p.P1866L	NM_080686	NP_542417	P48634	PRC2A_HUMAN			25	5846	+			1866					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.5597C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151630	0.38021	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01548	4.78;4.78	5.24	4.37	0.52481	.	0.237341	0.30320	N	0.009884	T	0.01029	0.0034	L	0.48642	1.525	0.51482	D	0.999927	B	0.10296	0.003	B	0.08055	0.003	T	0.46048	-0.9219	10	0.87932	D	0	-0.8921	10.8794	0.46929	0.0:0.9124:0.0:0.0876	.	1866	P48634	PRC2A_HUMAN	L	1858;1847;1866;1866;1091	ENSP00000365175:P1866L;ENSP00000365201:P1866L	ENSP00000365175:P1866L	P	+	2	0	PRRC2A	31711778	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.855000	0.55957	1.450000	0.47717	0.655000	0.94253	CCT		PASS	0.537	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		17	25	17	25	---	---	---	---
GPANK1	7918	broad.mit.edu	37	6	31631763	31631764	+	Missense_Mutation	DNP	GG	GG	AA	rs570286986		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31631763_31631764GG>AA	ENST00000375906.1	-	3	1176_1177	c.492_493CC>TT	c.(490-495)ggCCgt>ggTTgt	p.R165C	CSNK2B_ENST00000375865.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375896.4_Missense_Mutation_p.R165C|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.R165C|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|GPANK1_ENST00000375895.2_Missense_Mutation_p.R165C|GPANK1_ENST00000375893.2_Missense_Mutation_p.R165C|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	165							nucleic acid binding (GO:0003676)	p.R165C(2)|p.G164G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCAGCCCCACGGCCCAGGAGAT	0.658																																						uc003nvn.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(493-495)CGT>TGT|c.(490-492)GGC>GGT		HLA-B associated transcript 4																																				SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31631763G>A|g.chr6:31631764G>A		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.492_493delinsAA	6.37:g.31631763_31631764delinsAA	ENSP00000365071:p.Arg165Cys					BAT4_uc003nvo.3_Missense_Mutation_p.R165C|BAT4_uc003nvp.3_Missense_Mutation_p.R165C|BAT4_uc003nvq.2_Missense_Mutation_p.R165C|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank|BAT4_uc003nvo.3_Silent_p.G164G|BAT4_uc003nvp.3_Silent_p.G164G|BAT4_uc003nvq.2_Silent_p.G164G|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank	p.R165C|p.G164G	NM_033177	NP_149417	O95872	GPAN1_HUMAN			2	1138|1137	-			165|164			ANK 2.		A6NG25|B0UXA2|Q5SQ49	Missense_Mutation|Silent	SNP	ENST00000375906.1	37	c.493C>T|c.492C>T	CCDS4711.1																																																																																				PASS	0.658	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		20|19	24	19	24	---	---	---	---
LY6G6F	259215	broad.mit.edu	37	6	31675746	31675746	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31675746G>A	ENST00000375832.4	+	3	503	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	MEGT1_ENST00000503322.1_Missense_Mutation_p.E161K|LY6G6F_ENST00000556581.1_Missense_Mutation_p.E161K|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E161K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GACCTGGCAGGAAGGGAAGGG	0.622																																						uc003nwa.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(481-483)GAA>AAA		G6f protein precursor							91.0	90.0	90.0					6																	31675746		1511	2709	4220	SO:0001583	missense	259215					integral to membrane|plasma membrane		g.chr6:31675746G>A		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.481G>A	6.37:g.31675746G>A	ENSP00000364992:p.Glu161Lys					BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.E161K	p.E161K	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN			3	481	+			161			Extracellular (Potential).		B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	ENST00000375832.4	37	c.481G>A	CCDS34403.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149034	0.57151	.	.	ENSG00000204424;ENSG00000204424;ENSG00000250641	ENST00000556581;ENST00000375832;ENST00000503322	T;T;T	0.28666	1.91;1.6;1.91	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000006	T	0.44265	0.1285	M	0.66939	2.045	0.30894	N	0.730065	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.43196	-0.9406	10	0.87932	D	0	-25.1523	14.8659	0.70416	0.0:0.0:1.0:0.0	.	161;161	Q9NZJ1;Q5SQ64	.;LY66F_HUMAN	K	161	ENSP00000452432:E161K;ENSP00000364992:E161K;ENSP00000421232:E161K	ENSP00000364992:E161K	E	+	1	0	XXbac-BPG32J3.19;LY6G6F	31783725	1.000000	0.71417	0.998000	0.56505	0.428000	0.31595	4.259000	0.58828	2.596000	0.87737	0.591000	0.81541	GAA		PASS	0.622	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		18	48	18	48	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31753355	31753355	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31753355C>T	ENST00000375663.3	-	9	1696	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	VARS_ENST00000444930.2_Nonsense_Mutation_p.W124*	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	419					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.W419*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCCTCCTTCCACTTCCAGAC	0.607																																						uc003nxe.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1255-1257)TGG>TAG		valyl-tRNA synthetase	L-Valine(DB00161)						63.0	35.0	45.0					6																	31753355		1511	2708	4219	SO:0001587	stop_gained	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31753355C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1256G>A	6.37:g.31753355C>T	ENSP00000364815:p.Trp419*					VARS_uc011doi.1_RNA	p.W419*	NM_006295	NP_006286	P26640	SYVC_HUMAN			9	1679	-			419					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Nonsense_Mutation	SNP	ENST00000375663.3	37	c.1256G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	41	8.721520	0.98929	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	.	.	.	5.29	5.29	0.74685	.	0.136618	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.795	16.4619	0.84059	0.0:1.0:0.0:0.0	.	.	.	.	X	419;124	.	ENSP00000364815:W419X	W	-	2	0	VARS	31861334	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.038000	0.76537	2.489000	0.83994	0.655000	0.94253	TGG		PASS	0.607	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		4	10	4	10	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31760835	31760836	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31760835_31760836GG>AA	ENST00000375663.3	-	3	889_890	c.449_450CC>TT	c.(448-450)aCC>aTT	p.T150I	VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	150	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.T150I(2)|p.T150T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGCCAAGTAGGTGTGCAGCCG	0.649																																						uc003nxe.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(448-450)ACC>ACT|c.(448-450)ACC>ATC		valyl-tRNA synthetase	L-Valine(DB00161)																																			SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760835G>A|g.chr6:31760836G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.449_450delinsAA	6.37:g.31760835_31760836delinsAA	ENSP00000364815:p.Thr150Ile					VARS_uc011doi.1_Intron	p.T150T|p.T150I	NM_006295	NP_006286	P26640	SYVC_HUMAN			3	873|872	-			150			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent|Missense_Mutation	SNP	ENST00000375663.3	37	c.450C>T|c.449C>T	CCDS34412.1																																																																																				PASS	0.649	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		4	4	4	4	---	---	---	---
HSPA1L	3305	broad.mit.edu	37	6	31779345	31779345	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:31779345G>A	ENST00000375654.4	-	2	594	c.405C>T	c.(403-405)gcC>gcT	p.A135A	HSPA1L_ENST00000417199.3_Silent_p.A135A	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	135					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.A135A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGCCCAAAAAGGCCTCAGCAG	0.483																																						uc003nxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(403-405)GCC>GCT		heat shock 70kDa protein 1-like							97.0	93.0	94.0					6																	31779345		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31779345G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.405C>T	6.37:g.31779345G>A						HSPA1L_uc010jte.2_Silent_p.A135A	p.A135A	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	588	-			135					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.405C>T	CCDS34413.1																																																																																				PASS	0.483	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			23	24	23	24	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32026084	32026084	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32026084C>T	ENST00000375244.3	-	22	7777	c.7576G>A	c.(7576-7578)Ggg>Agg	p.G2526R	TNXB_ENST00000375247.2_Missense_Mutation_p.G2526R			P22105	TENX_HUMAN	tenascin XB	2586	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G2526R(1)|p.G2613R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGCTCCCCCAGGAGAGGC	0.627																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(7576-7578)GGG>AGG		tenascin XB isoform 1 precursor							33.0	38.0	36.0					6																	32026084		1197	2527	3724	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32026084C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7576G>A	6.37:g.32026084C>T	ENSP00000364393:p.Gly2526Arg						p.G2526R	NM_019105	NP_061978	P22105	TENX_HUMAN			22	7778	-			2586			Fibronectin type-III 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7576G>A		.	.	.	.	.	.	.	.	.	.	C	20.3	3.962849	0.74016	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04194	3.68;3.68	4.5	4.5	0.54988	.	0.000000	0.41938	D	0.000791	T	0.13372	0.0324	M	0.87038	2.855	0.30019	N	0.814512	D	0.89917	1.0	D	0.91635	0.999	T	0.10543	-1.0625	10	0.23302	T	0.38	.	14.295	0.66304	0.0:1.0:0.0:0.0	.	2526	P22105-3	.	R	2526	ENSP00000364393:G2526R;ENSP00000364396:G2526R	ENSP00000364393:G2526R	G	-	1	0	TNXB	32134062	0.076000	0.21285	0.975000	0.42487	0.739000	0.42172	2.816000	0.48026	2.330000	0.79161	0.650000	0.86243	GGG		PASS	0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		11	18	11	18	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32029219	32029219	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32029219G>A	ENST00000375244.3	-	21	7648	c.7447C>T	c.(7447-7449)Cac>Tac	p.H2483Y	TNXB_ENST00000375247.2_Missense_Mutation_p.H2483Y			P22105	TENX_HUMAN	tenascin XB	2543	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.H2483Y(1)|p.H2570Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCCCTCGTGGAGGCCATAC	0.672																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(7447-7449)CAC>TAC		tenascin XB isoform 1 precursor							102.0	116.0	111.0					6																	32029219		1296	2558	3854	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029219G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7447C>T	6.37:g.32029219G>A	ENSP00000364393:p.His2483Tyr						p.H2483Y	NM_019105	NP_061978	P22105	TENX_HUMAN			21	7649	-			2543			Fibronectin type-III 17.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7447C>T		.	.	.	.	.	.	.	.	.	.	G	3.510	-0.099932	0.07010	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56611	0.45;0.45	4.28	2.44	0.29823	.	0.114831	0.39341	N	0.001387	T	0.37625	0.1010	L	0.41415	1.275	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.23976	-1.0173	10	0.14252	T	0.57	.	7.3241	0.26545	0.0958:0.1694:0.7348:0.0	.	2483	P22105-3	.	Y	2483	ENSP00000364393:H2483Y;ENSP00000364396:H2483Y	ENSP00000364393:H2483Y	H	-	1	0	TNXB	32137197	0.000000	0.05858	0.003000	0.11579	0.393000	0.30537	0.487000	0.22356	0.403000	0.25479	0.591000	0.81541	CAC		PASS	0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		19	37	19	37	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32030096	32030096	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32030096G>T	ENST00000375244.3	-	20	7207	c.7006C>A	c.(7006-7008)Cag>Aag	p.Q2336K	TNXB_ENST00000375247.2_Missense_Mutation_p.Q2336K			P22105	TENX_HUMAN	tenascin XB	2398	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q2336K(1)|p.Q2423K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTCTTGTACTGGACCAGGAAG	0.602																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(7006-7008)CAG>AAG		tenascin XB isoform 1 precursor							53.0	60.0	58.0					6																	32030096		1368	2609	3977	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32030096G>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7006C>A	6.37:g.32030096G>T	ENSP00000364393:p.Gln2336Lys						p.Q2336K	NM_019105	NP_061978	P22105	TENX_HUMAN			20	7208	-			2398			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7006C>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.995616	0.74703	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57107	0.42;0.42	4.48	4.48	0.54585	.	0.000000	0.53938	D	0.000041	T	0.54382	0.1855	M	0.68317	2.08	0.28950	N	0.89049	D	0.76494	0.999	D	0.85130	0.997	T	0.50065	-0.8871	10	0.12766	T	0.61	.	14.0797	0.64912	0.0:0.0:1.0:0.0	.	2336	P22105-3	.	K	2336	ENSP00000364393:Q2336K;ENSP00000364396:Q2336K	ENSP00000364393:Q2336K	Q	-	1	0	TNXB	32138074	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.467000	0.66737	2.023000	0.59567	0.561000	0.74099	CAG		PASS	0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		17	36	17	36	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32038048	32038048	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32038048C>T	ENST00000375244.3	-	14	5335	c.5134G>A	c.(5134-5136)Gac>Aac	p.D1712N	TNXB_ENST00000375247.2_Missense_Mutation_p.D1712N			P22105	TENX_HUMAN	tenascin XB	1794	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.D1799N(1)|p.D1712N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCGTCTTTGTCCTTG	0.622																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5134-5136)GAC>AAC		tenascin XB isoform 1 precursor							25.0	27.0	26.0					6																	32038048		1896	4138	6034	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32038048C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5134G>A	6.37:g.32038048C>T	ENSP00000364393:p.Asp1712Asn						p.D1712N	NM_019105	NP_061978	P22105	TENX_HUMAN			14	5336	-			1794			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5134G>A		.	.	.	.	.	.	.	.	.	.	C	16.61	3.169942	0.57584	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.48;0.48	5.15	4.27	0.50696	.	0.489617	0.18963	N	0.126337	T	0.30854	0.0778	L	0.42245	1.32	0.24876	N	0.992254	P	0.48764	0.915	P	0.48334	0.574	T	0.07770	-1.0755	10	0.21014	T	0.42	.	10.0028	0.41940	0.0:0.9024:0.0:0.0976	.	1712	P22105-3	.	N	1712	ENSP00000364393:D1712N;ENSP00000364396:D1712N	ENSP00000364393:D1712N	D	-	1	0	TNXB	32146026	0.365000	0.25006	0.930000	0.37139	0.610000	0.37248	1.996000	0.40776	1.141000	0.42275	0.561000	0.74099	GAC		PASS	0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		14	10	14	10	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32063503	32063503	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32063503G>A	ENST00000479795.1	-	3	2267	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	TNXB_ENST00000375244.3_Silent_p.F709F|TNXB_ENST00000375247.2_Silent_p.F709F			P22105	TENX_HUMAN	tenascin XB	709	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.F709F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGGCCTCGGAAGCCCTCTA	0.667																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2125-2127)TTC>TTT		tenascin XB isoform 1 precursor							44.0	48.0	46.0					6																	32063503		2120	4236	6356	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063503G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2127C>T	6.37:g.32063503G>A							p.F709F	NM_019105	NP_061978	P22105	TENX_HUMAN			3	2329	-			709			EGF-like 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000479795.1	37	c.2127C>T																																																																																					PASS	0.667	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		10	17	10	17	---	---	---	---
BTNL2	56244	broad.mit.edu	37	6	32372866	32372866	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:32372866C>T	ENST00000374993.1	-	2	276	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	BTNL2_ENST00000429232.2_Missense_Mutation_p.G93S|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.G93S|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.G93S|BTNL2_ENST00000544175.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	93	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.G93S(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCTACCCAGCCTCTGTACTCC	0.532																																						uc003obg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(277-279)GGC>AGC		butyrophilin-like 2							313.0	286.0	296.0					6																	32372866		1511	2709	4220	SO:0001583	missense	56244					integral to membrane		g.chr6:32372866C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.277G>A	6.37:g.32372866C>T	ENSP00000364132:p.Gly93Ser					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.G93S	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	277	-			93			Ig-like V-type 1.|Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.277G>A		.	.	.	.	.	.	.	.	.	.	C	17.25	3.341616	0.61073	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.91	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342654	0.21941	N	0.066864	D	0.83839	0.5341	M	0.88512	2.96	0.32709	N	0.511828	D	0.89917	1.0	D	0.97110	1.0	D	0.84786	0.0776	10	0.66056	D	0.02	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	93	Q9UIR0	BTNL2_HUMAN	S	93;93;93;93;92	ENSP00000364134:G93S;ENSP00000364132:G93S;ENSP00000411166:G93S;ENSP00000388434:G92S	ENSP00000364132:G93S	G	-	1	0	BTNL2	32480844	0.011000	0.17503	0.998000	0.56505	0.031000	0.12232	1.072000	0.30678	2.755000	0.94549	0.632000	0.83419	GGC		PASS	0.532	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		36	78	36	78	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33137858	33137858	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:33137858C>T	ENST00000374708.4	-	47	3602	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1141E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1175E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1180E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1154E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1120E|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1201E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1094E	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1201	Collagen-like 6.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1201E(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCAACACCTCCTGGGGGACC	0.562																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3601-3603)GGA>GAA		collagen, type XI, alpha 2 isoform 1							79.0	83.0	82.0					6																	33137858		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137858C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3344G>A	6.37:g.33137858C>T	ENSP00000363840:p.Gly1115Glu					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1115E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1094E	p.G1201E	NM_080680	NP_542411	P13942	COBA2_HUMAN			49	3830	-			1201			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3602G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075494	0.55646	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52;-5.52	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.98256	4.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.97727	1.0200	10	0.87932	D	0	.	14.7784	0.69746	0.0:1.0:0.0:0.0	.	1094;1115;1201	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	E	1115;1201;1180;1175;1154;1141;1120;1094	ENSP00000363840:G1115E;ENSP00000339915:G1201E;ENSP00000350079:G1180E;ENSP00000363846:G1175E;ENSP00000363845:G1154E;ENSP00000378623:G1141E;ENSP00000363844:G1120E;ENSP00000355123:G1094E	ENSP00000339915:G1201E	G	-	2	0	COL11A2	33245836	1.000000	0.71417	0.996000	0.52242	0.646000	0.38490	7.511000	0.81718	2.355000	0.79922	0.549000	0.68633	GGA		PASS	0.562	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			21	39	21	39	---	---	---	---
VPS52	6293	broad.mit.edu	37	6	33232566	33232566	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:33232566G>A	ENST00000445902.2	-	13	1611	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.L340L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	465					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.L465L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GACCTGTCCAGGGCAGGAACA	0.498																																						uc003odm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1393-1395)CTG>TTG		vacuolar protein sorting 52							255.0	237.0	244.0					6																	33232566		1511	2709	4220	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232566G>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1393C>T	6.37:g.33232566G>A						VPS52_uc003odn.1_Silent_p.L276L	p.L465L	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			13	1603	-			465					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.1393C>T	CCDS4770.2																																																																																				PASS	0.498	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		41	94	41	94	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33423652	33423652	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:33423652C>T	ENST00000395064.2	+	2	1043	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	259	Pro-rich.				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.P259S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTGCTACTCCCCGAAAGCT	0.587																																						uc003oeq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)CCC>TCC		zinc finger and BTB domain containing 9							65.0	68.0	67.0					6																	33423652		2203	4300	6503	SO:0001583	missense	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423652C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.775C>T	6.37:g.33423652C>T	ENSP00000378503:p.Pro259Ser						p.P259S	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1043	+			259			Pro-rich.		A2AB19	Missense_Mutation	SNP	ENST00000395064.2	37	c.775C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	4.081	0.012963	0.07912	.	.	ENSG00000213588	ENST00000395064	T	0.09538	2.97	5.28	2.45	0.29901	.	0.854939	0.09454	U	0.799959	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.44329	-0.9335	10	0.21540	T	0.41	.	5.4994	0.16821	0.1432:0.6339:0.1397:0.0832	.	259	Q96C00	ZBTB9_HUMAN	S	259	ENSP00000378503:P259S	ENSP00000378503:P259S	P	+	1	0	ZBTB9	33531630	0.000000	0.05858	0.065000	0.19835	0.079000	0.17450	-0.115000	0.10741	1.469000	0.48083	0.655000	0.94253	CCC		PASS	0.587	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		19	39	19	39	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34499404	34499404	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:34499404C>T	ENST00000538621.1	+	9	1310	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	PACSIN1_ENST00000374043.2_Silent_p.P313P|PACSIN1_ENST00000244458.2_Silent_p.P355P	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	355					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)	p.P355P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGGCCAGCCCTACGCCACCG	0.627																																						uc003ojo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1063-1065)CCC>CCT		protein kinase C and casein kinase substrate in							84.0	86.0	86.0					6																	34499404		2203	4300	6503	SO:0001819	synonymous_variant	29993				endocytosis		protein kinase activity	g.chr6:34499404C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1065C>T	6.37:g.34499404C>T						PACSIN1_uc003ojp.2_Silent_p.P355P	p.P355P	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1271	+			355					Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.1065C>T	CCDS4793.1																																																																																				PASS	0.627	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			37	48	37	48	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36483159	36483159	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:36483159T>A	ENST00000229812.7	-	7	910	c.625A>T	c.(625-627)Atc>Ttc	p.I209F		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.I209F(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTGTGGATGAATCCAAGT	0.433																																					Colon(180;997 3561 16158)	uc003omg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(625-627)ATC>TTC		serine/threonine kinase 38							254.0	216.0	229.0					6																	36483159		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36483159T>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.625A>T	6.37:g.36483159T>A	ENSP00000229812:p.Ile209Phe					STK38_uc003omh.2_Missense_Mutation_p.I209F|STK38_uc003omi.2_Missense_Mutation_p.I209F	p.I209F	NM_007271	NP_009202	Q15208	STK38_HUMAN			6	1213	-			209			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.625A>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448235	0.84101	.	.	ENSG00000112079	ENST00000229812	T	0.51817	0.69	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.78916	2.43	0.80722	D	1	P	0.37441	0.595	B	0.41202	0.35	T	0.56195	-0.8019	10	0.87932	D	0	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	209	Q15208	STK38_HUMAN	F	209	ENSP00000229812:I209F	ENSP00000229812:I209F	I	-	1	0	STK38	36591137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.205000	0.71048	0.533000	0.62120	ATC		PASS	0.433	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		18	50	18	50	---	---	---	---
PIM1	5292	broad.mit.edu	37	6	37138791	37138791	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:37138791C>T	ENST00000373509.5	+	3	597	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	166					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.S75F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GACCGGATTTCCGACTGGGGA	0.701			T	BCL6	NHL																																	uc003onk.2				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(223-225)TCC>TTC		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						53.0	55.0	55.0					6																	37138791		2203	4300	6503	SO:0001583	missense	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138791C>T		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.224C>T	6.37:g.37138791C>T	ENSP00000362608:p.Ser75Phe					PIM1_uc011dtw.1_5'Flank	p.S75F	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		3	654	+			166			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.224C>T	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566693	0.28003	.	.	ENSG00000137193	ENST00000373509	T	0.67171	-0.25	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073980	0.53938	D	0.000044	T	0.47764	0.1463	L	0.47716	1.5	0.47621	D	0.999477	B	0.29270	0.24	B	0.29663	0.105	T	0.48747	-0.9008	10	0.25751	T	0.34	.	17.2083	0.86924	0.0:1.0:0.0:0.0	.	166	P11309	PIM1_HUMAN	F	75	ENSP00000362608:S75F	ENSP00000362608:S75F	S	+	2	0	PIM1	37246769	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.030000	0.76484	2.468000	0.83385	0.549000	0.68633	TCC		PASS	0.701	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			14	32	14	32	---	---	---	---
PIM1	5292	broad.mit.edu	37	6	37140804	37140804	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:37140804C>T	ENST00000373509.5	+	5	1013	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)	p.R214C(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	AGAGTGGATCCGCTACCATCG	0.517			T	BCL6	NHL																																	uc003onk.2				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		2	Substitution - Missense(2)		large_intestine(1)|lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(640-642)CGC>TGC		non-specific serine/threonine protein kinase	Adenosine monophosphate(DB00131)						103.0	96.0	99.0					6																	37140804		2203	4300	6503	SO:0001583	missense	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37140804C>T		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.640C>T	6.37:g.37140804C>T	ENSP00000362608:p.Arg214Cys					PIM1_uc011dtw.1_Silent_p.S82S	p.R214C	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		5	1070	+			305			Protein kinase.		Q38RT9|Q5T7H7|Q96RG3	Missense_Mutation	SNP	ENST00000373509.5	37	c.640C>T	CCDS4830.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172932	0.78452	.	.	ENSG00000137193	ENST00000373509	T	0.67523	-0.27	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.205047	0.42548	N	0.000698	T	0.70360	0.3215	M	0.67953	2.075	0.48632	D	0.999685	D	0.76494	0.999	P	0.61722	0.893	T	0.68561	-0.5376	10	0.33940	T	0.23	.	13.195	0.59732	0.1597:0.8403:0.0:0.0	.	305	P11309	PIM1_HUMAN	C	214	ENSP00000362608:R214C	ENSP00000362608:R214C	R	+	1	0	PIM1	37248782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.035000	0.49759	2.660000	0.90430	0.591000	0.81541	CGC		PASS	0.517	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1			26	36	26	36	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38790619	38790619	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:38790619T>A	ENST00000359357.3	+	25	3132	c.2878T>A	c.(2878-2880)Ttt>Att	p.F960I	DNAH8_ENST00000441566.1_Missense_Mutation_p.F960I|DNAH8_ENST00000449981.2_Missense_Mutation_p.F1177I|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	960					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F960I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAGGATCTTTTGAAGAAGC	0.338																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2878-2880)TTT>ATT		dynein, axonemal, heavy polypeptide 8							31.0	32.0	32.0					6																	38790619		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790619T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2878T>A	6.37:g.38790619T>A	ENSP00000352312:p.Phe960Ile						p.F960I	NM_001371	NP_001362					25	3478	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2878T>A		.	.	.	.	.	.	.	.	.	.	T	10.04	1.242502	0.22796	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.23754	1.93;1.93;1.89	5.36	1.3	0.21679	.	0.847781	0.10854	N	0.626821	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46133	-0.9213	10	0.22706	T	0.39	.	8.7244	0.34460	0.0:0.0774:0.5423:0.3803	.	960	Q96JB1	DYH8_HUMAN	I	1165;1165;960;960	ENSP00000333363:F1165I;ENSP00000352312:F960I;ENSP00000402294:F960I	ENSP00000333363:F1165I	F	+	1	0	DNAH8	38898597	0.813000	0.29090	0.360000	0.25837	0.892000	0.51952	-0.488000	0.06497	0.411000	0.25702	-0.366000	0.07423	TTT		PASS	0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	12	11	12	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38790796	38790796	+	Missense_Mutation	SNP	G	G	A	rs201420305		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:38790796G>A	ENST00000359357.3	+	25	3309	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1019N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1236N|SNORA8_ENST00000391284.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1019					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1019N(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGGACCGCGATGTGAAAGT	0.458																																						uc003ooe.1																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3055-3057)GAT>AAT		dynein, axonemal, heavy polypeptide 8							106.0	109.0	108.0					6																	38790796		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38790796G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3055G>A	6.37:g.38790796G>A	ENSP00000352312:p.Asp1019Asn						p.D1019N	NM_001371	NP_001362					25	3655	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3055G>A		.	.	.	.	.	.	.	.	.	.	G	4.188	0.033513	0.08101	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25250	1.84;1.84;1.81	5.53	3.74	0.42951	.	0.506879	0.21459	N	0.074190	T	0.07593	0.0191	L	0.41573	1.285	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30060	-0.9991	10	0.26408	T	0.33	.	9.9144	0.41425	0.0738:0.1382:0.788:0.0	.	1019	Q96JB1	DYH8_HUMAN	N	1224;1224;1019;1019	ENSP00000333363:D1224N;ENSP00000352312:D1019N;ENSP00000402294:D1019N	ENSP00000333363:D1224N	D	+	1	0	DNAH8	38898774	1.000000	0.71417	0.006000	0.13384	0.005000	0.04900	4.309000	0.59135	0.678000	0.31325	0.467000	0.42956	GAT		PASS	0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		11	45	11	45	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38825328	38825328	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:38825328A>G	ENST00000359357.3	+	40	5371	c.5117A>G	c.(5116-5118)cAc>cGc	p.H1706R	DNAH8_ENST00000441566.1_Missense_Mutation_p.H1706R|DNAH8_ENST00000449981.2_Missense_Mutation_p.H1923R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1706					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H1706R(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGTGGACACACGATTCAGAA	0.343																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5116-5118)CAC>CGC		dynein, axonemal, heavy polypeptide 8							99.0	97.0	98.0					6																	38825328		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38825328A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5117A>G	6.37:g.38825328A>G	ENSP00000352312:p.His1706Arg						p.H1706R	NM_001371	NP_001362					40	5717	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5117A>G		.	.	.	.	.	.	.	.	.	.	A	2.684	-0.274684	0.05679	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20738	2.07;2.06;2.05	5.91	4.73	0.59995	.	0.051081	0.64402	D	0.000001	T	0.01092	0.0036	N	0.00048	-2.425	0.30022	N	0.814292	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	10	0.20519	T	0.43	.	8.6422	0.33983	0.8033:0.0:0.1967:0.0	.	1706	Q96JB1	DYH8_HUMAN	R	1911;1911;1706;1706	ENSP00000333363:H1911R;ENSP00000352312:H1706R;ENSP00000402294:H1706R	ENSP00000333363:H1911R	H	+	2	0	DNAH8	38933306	0.990000	0.36364	0.999000	0.59377	0.965000	0.64279	1.909000	0.39917	2.254000	0.74563	0.533000	0.62120	CAC		PASS	0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		19	39	19	39	---	---	---	---
KCNK16	83795	broad.mit.edu	37	6	39284636	39284636	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:39284636C>T	ENST00000373229.5	-	4	596	c.583G>A	c.(583-585)Gag>Aag	p.E195K	KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000373227.4_Missense_Mutation_p.E195K|KCNK16_ENST00000507712.1_Missense_Mutation_p.E130K|KCNK16_ENST00000437525.2_Missense_Mutation_p.E195K|KCNK16_ENST00000425054.2_Missense_Mutation_p.E195K|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	195					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.E195K(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGCCCTCCACATGGCTG	0.542																																						uc003ooq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(583-585)GAG>AAG		potassium channel, subfamily K, member 16							126.0	124.0	125.0					6																	39284636		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284636C>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.583G>A	6.37:g.39284636C>T	ENSP00000362326:p.Glu195Lys					KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.E195K|KCNK16_uc010jwy.2_Missense_Mutation_p.E195K|KCNK16_uc011dtz.1_Missense_Mutation_p.E195K	p.E195K	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			4	597	-			195					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.583G>A	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580888	0.96565	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.5	5.5	0.81552	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	H	0.94306	3.52	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.998;0.999;0.994;1.0	D	0.84479	0.0604	10	0.72032	D	0.01	.	18.9885	0.92782	0.0:1.0:0.0:0.0	.	195;195;195;195	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	K	195;195;130;195;195	ENSP00000362326:E195K;ENSP00000391498:E195K;ENSP00000423842:E130K;ENSP00000362324:E195K;ENSP00000415375:E195K	ENSP00000362324:E195K	E	-	1	0	KCNK16	39392614	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.052000	0.76634	2.596000	0.87737	0.561000	0.74099	GAG		PASS	0.542	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		52	115	52	115	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399601	40399601	+	Missense_Mutation	SNP	G	G	A	rs267601027		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:40399601G>A	ENST00000338305.6	-	2	1794	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	418						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P418S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCTTTTGGGAGGCTCTCCG	0.652																																						uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1252-1254)CCC>TCC		leucine rich repeat and fibronectin type III							43.0	47.0	46.0					6																	40399601		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399601G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1252C>T	6.37:g.40399601G>A	ENSP00000345985:p.Pro418Ser						p.P418S	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1717	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		418			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1252C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	3.145	-0.175385	0.06421	.	.	ENSG00000156564	ENST00000338305	T	0.55930	0.49	5.38	2.23	0.28157	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.469641	0.25584	N	0.029666	T	0.08179	0.0204	N	0.08118	0	0.36007	D	0.837768	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	10	0.08179	T	0.78	.	1.206	0.01895	0.202:0.1733:0.445:0.1797	.	418	Q9ULH4	LRFN2_HUMAN	S	418	ENSP00000345985:P418S	ENSP00000345985:P418S	P	-	1	0	LRFN2	40507579	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	1.514000	0.35834	1.279000	0.44446	0.561000	0.74099	CCC		PASS	0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		9	21	9	21	---	---	---	---
UBR2	23304	broad.mit.edu	37	6	42603165	42603165	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:42603165C>T	ENST00000372899.1	+	14	1813	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	UBR2_ENST00000372883.3_Missense_Mutation_p.P23S|UBR2_ENST00000372901.1_Missense_Mutation_p.P519S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	519					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P519S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGGAATGGATCCAATTACACG	0.318																																						uc011dur.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1555-1557)CCA>TCA		ubiquitin protein ligase E3 component n-recognin							81.0	77.0	79.0					6																	42603165		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42603165C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1555C>T	6.37:g.42603165C>T	ENSP00000361990:p.Pro519Ser					UBR2_uc011dus.1_Missense_Mutation_p.P164S|UBR2_uc010jxv.1_Missense_Mutation_p.P23S|UBR2_uc003osh.2_RNA	p.P519S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		14	1555	+	Colorectal(47;0.196)		519					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1555C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827834	0.71143	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.39406	1.08;1.08;1.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	N	0.20986	0.625	0.80722	D	1	D;B;D	0.89917	0.98;0.024;1.0	P;B;D	0.91635	0.69;0.014;0.999	T	0.21586	-1.0241	10	0.25751	T	0.34	-16.7396	18.9982	0.92821	0.0:1.0:0.0:0.0	.	519;519;23	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	S	519;519;23	ENSP00000361990:P519S;ENSP00000361992:P519S;ENSP00000361974:P23S	ENSP00000361974:P23S	P	+	1	0	UBR2	42711143	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.460000	0.80816	2.470000	0.83445	0.650000	0.86243	CCA		PASS	0.318	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		17	29	17	29	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43099815	43099815	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:43099815C>T	ENST00000230419.4	+	6	1095	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	PTK7_ENST00000349241.2_Missense_Mutation_p.R292W|PTK7_ENST00000345201.2_Missense_Mutation_p.R292W|PTK7_ENST00000352931.2_Missense_Mutation_p.R292W|PTK7_ENST00000481273.1_Missense_Mutation_p.R300W|PTK7_ENST00000471863.1_Missense_Mutation_p.R292W	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	292	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R292W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GACCCAGGTCCGGCCACGCAA	0.617																																						uc003oub.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(874-876)CGG>TGG		PTK7 protein tyrosine kinase 7 isoform a							50.0	52.0	51.0					6																	43099815		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43099815C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.874C>T	6.37:g.43099815C>T	ENSP00000230419:p.Arg292Trp					PTK7_uc003ouc.1_Missense_Mutation_p.R292W|PTK7_uc003oud.1_Missense_Mutation_p.R292W|PTK7_uc003oue.1_Missense_Mutation_p.R292W|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R300W|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.R292W	p.R292W	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		6	1072	+			292			Ig-like C2-type 3.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.874C>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607951	0.87258	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;T;T;T;T	0.68181	4.68;4.68;4.68;-0.31;-0.31;4.68;4.68	5.64	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097006	0.64402	D	0.000002	T	0.73001	0.3531	M	0.70595	2.14	0.38411	D	0.945923	D;D;D;D;D;D	0.89917	0.978;1.0;0.993;0.999;0.994;0.999	P;D;D;D;D;D	0.72625	0.882;0.978;0.914;0.946;0.916;0.948	T	0.77872	-0.2426	10	0.87932	D	0	.	11.9575	0.52988	0.5032:0.4968:0.0:0.0	.	300;292;292;292;292;292	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	W	292;292;292;292;292;300;300;45	ENSP00000230419:R292W;ENSP00000419037:R292W;ENSP00000325462:R292W;ENSP00000326029:R292W;ENSP00000325992:R292W;ENSP00000418754:R300W;ENSP00000420165:R45W	ENSP00000230418:R292W	R	+	1	2	PTK7	43207793	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.061000	0.64319	1.340000	0.45581	0.462000	0.41574	CGG		PASS	0.617	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			10	22	10	22	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172102	43172102	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:43172102G>T	ENST00000252050.4	+	21	4248	c.4164G>T	c.(4162-4164)gcG>gcT	p.A1388A	CUL9_ENST00000372647.2_Silent_p.A1388A|CUL9_ENST00000354495.3_Silent_p.A1278A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1388					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A1388A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTCAGATGCGGAAGGCGTGA	0.537																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(4162-4164)GCG>GCT		p53-associated parkin-like cytoplasmic protein							126.0	113.0	118.0					6																	43172102		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43172102G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4164G>T	6.37:g.43172102G>T						CUL9_uc003oul.2_Silent_p.A1388A|CUL9_uc010jyk.2_Silent_p.A540A	p.A1388A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			21	4239	+			1388					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.4164G>T	CCDS4890.1																																																																																				PASS	0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		5	77	5	77	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43250759	43250759	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:43250759G>A	ENST00000259750.4	+	14	2364	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	761	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E761K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			agaggaggaggaagaagagga	0.582																																						uc003ouq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(2281-2283)GAA>AAA		tau tubulin kinase 1							15.0	15.0	15.0					6																	43250759		2201	4296	6497	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43250759G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2281G>A	6.37:g.43250759G>A	ENSP00000259750:p.Glu761Lys						p.E761K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2560	+			761			Glu-rich.|Potential.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2281G>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933764	0.18206	.	.	ENSG00000146216	ENST00000259750	T	0.12147	2.71	3.35	3.35	0.38373	.	1.005570	0.08027	N	0.992853	T	0.04003	0.0112	N	0.22421	0.69	0.80722	D	1	P	0.47604	0.898	B	0.43575	0.424	T	0.43032	-0.9416	10	0.09084	T	0.74	.	10.5255	0.44945	0.0:0.0:1.0:0.0	.	761	Q5TCY1	TTBK1_HUMAN	K	761	ENSP00000259750:E761K	ENSP00000259750:E761K	E	+	1	0	TTBK1	43358737	1.000000	0.71417	0.270000	0.24601	0.027000	0.11550	6.009000	0.70745	1.550000	0.49438	0.555000	0.69702	GAA		PASS	0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			6	14	6	14	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43316338	43316339	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:43316338_43316339CC>TT	ENST00000361428.2	-	6	2872_2873	c.2795_2796GG>AA	c.(2794-2796)aGG>aAA	p.R932K	ZNF318_ENST00000318149.3_Missense_Mutation_p.R932K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	932					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R932K(2)|p.R932R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATCCTTCTCCCTTCGTTTCTT	0.441																																						uc003oux.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2794-2796)AGG>AGA|c.(2794-2796)AGG>AAG		zinc finger protein 318																																				SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316338C>T|g.chr6:43316339C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2795_2796delinsTT	6.37:g.43316338_43316339delinsTT	ENSP00000354964:p.Arg932Lys					ZNF318_uc003ouw.2_RNA	p.R932R|p.R932K	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	2874|2873	-			932			Potential.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent|Missense_Mutation	SNP	ENST00000361428.2	37	c.2796G>A|c.2795G>A	CCDS4895.2																																																																																				PASS	0.441	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		18	28	18	28	---	---	---	---
GTPBP2	54676	broad.mit.edu	37	6	43592737	43592737	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:43592737G>A	ENST00000307126.5	-	6	767	c.768C>T	c.(766-768)atC>atT	p.I256I	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.I168I	NM_019096.3	NP_061969.3			GTP binding protein 2									p.I256I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CGATGAAGGTGATCATCTTGG	0.592																																					GBM(116;405 1620 28302 32150 44768)	uc003ovs.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)|skin(1)	2						c.(766-768)ATC>ATT		GTP binding protein 2							200.0	156.0	171.0					6																	43592737		2203	4300	6503	SO:0001819	synonymous_variant	54676						GTP binding|GTPase activity	g.chr6:43592737G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.768C>T	6.37:g.43592737G>A						GTPBP2_uc010jyv.2_Silent_p.I168I|GTPBP2_uc003ovt.1_Silent_p.I256I	p.I256I	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		6	805	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		256						Silent	SNP	ENST00000307126.5	37	c.768C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	8.577	0.881456	0.17467	.	.	ENSG00000172432	ENST00000442748	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	T	0.67382	0.2887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66763	-0.5841	4	.	.	.	-21.3701	17.8222	0.88653	0.0:0.0:1.0:0.0	.	.	.	.	L	222	.	.	S	-	2	0	GTPBP2	43700715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.455000	0.73497	2.418000	0.82041	0.555000	0.69702	TCA		PASS	0.592	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			18	40	18	40	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44150729	44150729	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:44150729G>A	ENST00000398776.1	+	20	2028	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	CAPN11_ENST00000542245.1_Missense_Mutation_p.E664K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	664	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.E664K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAACTCCTATGAGATGCGCCT	0.552																																						uc003owt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1990-1992)GAG>AAG		calpain 11							64.0	61.0	62.0					6																	44150729		1968	4152	6120	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44150729G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1990G>A	6.37:g.44150729G>A	ENSP00000381758:p.Glu664Lys					CAPN11_uc011dvn.1_Intron	p.E664K	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2028	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		664			Domain IV.|2 (Potential).|EF-hand 2.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1990G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545102	0.86022	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.53206	0.63;0.63	5.65	3.71	0.42584	EF-hand-like domain (1);	0.000000	0.47455	D	0.000238	T	0.53802	0.1819	M	0.93898	3.47	0.41581	D	0.988744	P	0.44429	0.835	P	0.46339	0.513	T	0.65965	-0.6040	10	0.87932	D	0	.	9.9342	0.41541	0.074:0.0:0.7889:0.1371	.	664	Q9UMQ6	CAN11_HUMAN	K	664	ENSP00000381758:E664K;ENSP00000441078:E664K	ENSP00000381758:E664K	E	+	1	0	CAPN11	44258707	1.000000	0.71417	0.996000	0.52242	0.629000	0.37895	6.436000	0.73417	2.658000	0.90341	0.643000	0.83706	GAG		PASS	0.552	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			6	18	6	18	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44272836	44272836	+	Missense_Mutation	SNP	C	C	T	rs146512155		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:44272836C>T	ENST00000244571.4	-	11	1536	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.D512N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGGGGCTGTCGTCAGTTGGG	0.607											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010jza.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1534-1536)GAC>AAC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						127.0	120.0	122.0					6																	44272836		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272836C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1534G>A	6.37:g.44272836C>T	ENSP00000244571:p.Asp512Asn		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.D512N	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1537	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		512						Missense_Mutation	SNP	ENST00000244571.4	37	c.1534G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932173	0.52866	.	.	ENSG00000124608	ENST00000244571	T	0.72394	-0.65	5.01	4.13	0.48395	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.096640	0.64402	D	0.000001	T	0.75481	0.3855	L	0.56124	1.755	0.49915	D	0.999837	D	0.89917	1.0	D	0.81914	0.995	T	0.79172	-0.1913	10	0.87932	D	0	-17.649	16.2451	0.82437	0.0:0.9285:0.0:0.0715	.	512	Q5JTZ9	SYAM_HUMAN	N	512	ENSP00000244571:D512N	ENSP00000244571:D512N	D	-	1	0	AARS2	44380814	1.000000	0.71417	0.881000	0.34555	0.017000	0.09413	5.433000	0.66520	0.541000	0.28827	-0.921000	0.02739	GAC		PASS	0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		38	61	38	61	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45515016	45515016	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:45515016G>A	ENST00000371438.1	+	8	1898	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	RUNX2_ENST00000541979.1_Missense_Mutation_p.D560N|RUNX2_ENST00000371436.6_Missense_Mutation_p.D492N|RUNX2_ENST00000371432.3_Missense_Mutation_p.D478N|RUNX2_ENST00000465038.2_Missense_Mutation_p.D514N|RUNX2_ENST00000359524.5_Missense_Mutation_p.D500N|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.D582N	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	514	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D514N(1)|p.D582N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGGCAGAATGGATGAATCTGT	0.443																																						uc011dvx.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1540-1542)GAT>AAT		runt-related transcription factor 2 isoform a							85.0	89.0	88.0					6																	45515016		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45515016G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1540G>A	6.37:g.45515016G>A	ENSP00000360493:p.Asp514Asn					RUNX2_uc011dvy.1_Missense_Mutation_p.D492N|RUNX2_uc003oxt.2_Missense_Mutation_p.D500N	p.D514N	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			9	1750	+			514			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1540G>A	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323584	0.81580	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.56	5.56	0.83823	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.991;0.995;0.983	T	0.53927	-0.8369	9	.	.	.	-6.3367	19.9052	0.97004	0.0:0.0:1.0:0.0	.	560;514;500	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	N	514;582;560;514;492;500;478	ENSP00000420707:D514N;ENSP00000319087:D582N;ENSP00000446290:D560N;ENSP00000360493:D514N;ENSP00000360491:D492N;ENSP00000352514:D500N;ENSP00000360486:D478N	.	D	+	1	0	RUNX2	45622994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.776000	0.95493	0.655000	0.94253	GAT		PASS	0.443	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		21	36	21	36	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46107761	46107761	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46107761C>T	ENST00000321037.4	+	2	671	c.441C>T	c.(439-441)atC>atT	p.I147I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	147					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.I147I(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ACGATACCATCTCTTCCTATT	0.413																																						uc003oxy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(439-441)ATC>ATT		ectonucleotide pyrophosphatase/phosphodiesterase							176.0	165.0	168.0					6																	46107761		2203	4300	6503	SO:0001819	synonymous_variant	22875					integral to membrane	hydrolase activity	g.chr6:46107761C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.441C>T	6.37:g.46107761C>T							p.I147I	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	700	+			147			Extracellular (Potential).		A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	c.441C>T	CCDS34468.1																																																																																				PASS	0.413	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			30	81	30	81	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46107950	46107950	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46107950A>G	ENST00000321037.4	+	2	860	c.630A>G	c.(628-630)atA>atG	p.I210M		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	210					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.I210M(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGAAAAAAATAGATGATCTTA	0.398																																						uc003oxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(628-630)ATA>ATG		ectonucleotide pyrophosphatase/phosphodiesterase							116.0	112.0	114.0					6																	46107950		2203	4300	6503	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107950A>G	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.630A>G	6.37:g.46107950A>G	ENSP00000318066:p.Ile210Met						p.I210M	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	889	+			210			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.630A>G	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.591198	0.46214	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73575	-0.76	5.91	0.622	0.17648	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.311699	0.38381	N	0.001701	T	0.43433	0.1247	N	0.17723	0.515	0.29916	N	0.823156	P	0.40619	0.724	P	0.48738	0.588	T	0.46048	-0.9219	10	0.56958	D	0.05	-9.0703	0.5644	0.00684	0.2419:0.3162:0.1344:0.3074	.	210	Q9Y6X5	ENPP4_HUMAN	M	210	ENSP00000318066:I210M	ENSP00000318066:I210M	I	+	3	3	ENPP4	46215909	0.979000	0.34478	0.942000	0.38095	0.682000	0.39822	0.011000	0.13264	0.089000	0.17243	0.533000	0.62120	ATA		PASS	0.398	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			28	72	28	72	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46111176	46111176	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46111176G>A	ENST00000321037.4	+	4	1391	c.1161G>A	c.(1159-1161)ggG>ggA	p.G387G		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	387					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.G387G(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CCAATAATGGGACCTTTGGTC	0.423																																						uc003oxy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1159-1161)GGG>GGA		ectonucleotide pyrophosphatase/phosphodiesterase							169.0	156.0	160.0					6																	46111176		2203	4300	6503	SO:0001819	synonymous_variant	22875					integral to membrane	hydrolase activity	g.chr6:46111176G>A	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1161G>A	6.37:g.46111176G>A							p.G387G	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			4	1420	+			387			Extracellular (Potential).		A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	c.1161G>A	CCDS34468.1																																																																																				PASS	0.423	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			30	55	30	55	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	G	A	rs151037028		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46826469G>A	ENST00000283296.7	-	17	3459	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_ENST00000265417.7_Silent_p.I1057I|GPR116_ENST00000456426.2_Silent_p.I915I|GPR116_ENST00000362015.4_Silent_p.I1057I|GPR116_ENST00000545669.1_Silent_p.I486I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1057					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.I1057I(2)		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)			GGGAGGCAGCGATATTCACTA	0.537																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			2	Substitution - coding silent(2)	p.I1057I(1)	lung(1)|skin(1)	central_nervous_system(1)|skin(1)	2						c.(3169-3171)ATC>ATT		G-protein coupled receptor 116 precursor							73.0	70.0	71.0					6																	46826469		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826469G>A	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.3171C>T	6.37:g.46826469G>A						GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I	p.I1057I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3460	-			1057			Helical; Name=2; (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3171C>T	CCDS4919.1																																																																																				PASS	0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		16	27	16	27	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826629	46826629	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46826629G>A	ENST00000283296.7	-	17	3299	c.3011C>T	c.(3010-3012)cCt>cTt	p.P1004L	GPR116_ENST00000265417.7_Missense_Mutation_p.P1004L|GPR116_ENST00000456426.2_Missense_Mutation_p.P862L|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004L|GPR116_ENST00000545669.1_Missense_Mutation_p.P433L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					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.P1004L(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)			GAGAGAACTAGGATCTGGGGA	0.488																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3010-3012)CCT>CTT		G-protein coupled receptor 116 precursor							68.0	66.0	66.0					6																	46826629		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826629G>A	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.3011C>T	6.37:g.46826629G>A	ENSP00000283296:p.Pro1004Leu					GPR116_uc011dwj.1_Missense_Mutation_p.P559L|GPR116_uc011dwk.1_Missense_Mutation_p.P433L|GPR116_uc003oyp.3_Missense_Mutation_p.P862L|GPR116_uc003oyq.3_Missense_Mutation_p.P1004L|GPR116_uc010jzi.1_Missense_Mutation_p.P676L	p.P1004L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3300	-			1004			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3011C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165875	0.21538	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.69	4.81	0.61882	.	0.310930	0.27841	N	0.017636	T	0.13457	0.0326	L	0.35414	1.06	0.09310	N	0.999999	P;P;P;P;P	0.49253	0.804;0.704;0.893;0.921;0.893	B;B;P;P;P	0.45913	0.242;0.113;0.489;0.497;0.489	T	0.04509	-1.0946	10	0.62326	D	0.03	-7.2689	8.0831	0.30756	0.1373:0.1336:0.729:0.0	.	433;559;1004;862;1004	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	L	1004;1004;1004;862;375;1004;433	ENSP00000283296:P1004L;ENSP00000354563:P1004L;ENSP00000412866:P862L;ENSP00000265417:P1004L;ENSP00000441581:P433L	ENSP00000265417:P1004L	P	-	2	0	GPR116	46934588	0.009000	0.17119	0.688000	0.30117	0.486000	0.33341	1.383000	0.34385	1.373000	0.46208	0.555000	0.69702	CCT		PASS	0.488	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		8	32	8	32	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46826655	46826655	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:46826655G>A	ENST00000283296.7	-	17	3273	c.2985C>T	c.(2983-2985)atC>atT	p.I995I	GPR116_ENST00000265417.7_Silent_p.I995I|GPR116_ENST00000456426.2_Silent_p.I853I|GPR116_ENST00000362015.4_Silent_p.I995I|GPR116_ENST00000545669.1_Silent_p.I424I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	995	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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.I995I(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)			GGGACATGAGGATGGAGAATG	0.502																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2983-2985)ATC>ATT		G-protein coupled receptor 116 precursor							85.0	77.0	80.0					6																	46826655		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826655G>A	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.2985C>T	6.37:g.46826655G>A						GPR116_uc011dwj.1_Silent_p.I550I|GPR116_uc011dwk.1_Silent_p.I424I|GPR116_uc003oyp.3_Silent_p.I853I|GPR116_uc003oyq.3_Silent_p.I995I|GPR116_uc010jzi.1_Silent_p.I667I	p.I995I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3274	-			995			GPS.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2985C>T	CCDS4919.1																																																																																				PASS	0.502	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		9	28	9	28	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47253992	47253992	+	Missense_Mutation	SNP	G	G	A	rs369353250		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:47253992G>A	ENST00000296861.2	-	2	829	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	146					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.P146S(1)|p.P146T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACCGTATGGGGGGCACAGGTA	0.547																																						uc003oyv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(436-438)CCC>TCC		tumor necrosis factor receptor superfamily,		G	SER/PRO	0,4406		0,0,2203	220.0	181.0	194.0		436	5.8	1.0	6		194	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF21	NM_014452.3	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	146/656	47253992	1,13005	2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253992G>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.436C>T	6.37:g.47253992G>A	ENSP00000296861:p.Pro146Ser						p.P146S	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		2	869	-			146			Extracellular (Potential).|TNFR-Cys 3.		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.436C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280274	0.40294	0.0	1.16E-4	ENSG00000146072	ENST00000296861	T	0.60299	0.2	5.78	5.78	0.91487	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.201673	0.53938	D	0.000058	T	0.51787	0.1695	M	0.63428	1.95	0.53005	D	0.999969	D	0.55172	0.97	B	0.42851	0.4	T	0.57974	-0.7718	10	0.52906	T	0.07	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	146	O75509	TNR21_HUMAN	S	146	ENSP00000296861:P146S	ENSP00000296861:P146S	P	-	1	0	TNFRSF21	47361951	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	5.987000	0.70571	2.894000	0.99253	0.655000	0.94253	CCC		PASS	0.547	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		47	94	47	94	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47847666	47847666	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:47847666C>T	ENST00000339488.4	-	3	947	c.914G>A	c.(913-915)gGa>gAa	p.G305E		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	305	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.G305E(1)									TCCTTTAGTTCCATGACCTAA	0.368																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(862-864)GGA>GAA		hypothetical protein LOC442213							12.0	13.0	13.0					6																	47847666		2170	4253	6423	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847666C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.914G>A	6.37:g.47847666C>T	ENSP00000341914:p.Gly305Glu					C6orf138_uc011dwn.1_Missense_Mutation_p.G52E	p.G288E	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	948	-			305			Helical; (Potential).|SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.863G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300533	0.60195	.	.	ENSG00000244694	ENST00000339488	D	0.97378	-4.36	5.25	5.25	0.73442	Sterol-sensing domain (1);	.	.	.	.	D	0.98302	0.9437	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	D	0.99323	1.0907	9	0.87932	D	0	.	18.8631	0.92281	0.0:1.0:0.0:0.0	.	305	Q6ZW05	CF138_HUMAN	E	305	ENSP00000341914:G305E	ENSP00000341914:G305E	G	-	2	0	C6orf138	47955625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.473000	0.83533	0.650000	0.86243	GGA		PASS	0.368	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		6	10	6	10	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49586917	49586917	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:49586917G>T	ENST00000371175.4	-	2	342	c.316C>A	c.(316-318)Cag>Aag	p.Q106K	RHAG_ENST00000229810.7_Missense_Mutation_p.Q106K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	106					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.Q106K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTAAATTTCTGTCCCTGGCTT	0.443																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(316-318)CAG>AAG		Rh-associated glycoprotein							126.0	121.0	123.0					6																	49586917		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49586917G>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.316C>A	6.37:g.49586917G>T	ENSP00000360217:p.Gln106Lys					RHAG_uc010jzl.2_Missense_Mutation_p.Q106K|RHAG_uc010jzm.2_Missense_Mutation_p.Q106K	p.Q106K	NM_000324	NP_000315	Q02094	RHAG_HUMAN			2	378	-	Lung NSC(77;0.0255)		106			Extracellular (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.316C>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830500	0.32329	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.23754	1.89;1.89	5.11	-3.81	0.04294	Ammonium transporter AmtB-like (3);	0.989383	0.08259	N	0.973364	T	0.03739	0.0106	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43814	-0.9368	10	0.45353	T	0.12	0.4613	11.2908	0.49250	0.0:0.472:0.1634:0.3646	.	106;106;106	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	K	106	ENSP00000360217:Q106K;ENSP00000229810:Q106K	ENSP00000229810:Q106K	Q	-	1	0	RHAG	49694876	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-1.907000	0.01589	-0.479000	0.06813	0.591000	0.81541	CAG		PASS	0.443	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			21	35	21	35	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524180	51524180	+	Missense_Mutation	SNP	C	C	T	rs148300854		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:51524180C>T	ENST00000371117.3	-	61	11019	c.10744G>A	c.(10744-10746)Gaa>Aaa	p.E3582K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3582					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.E3582K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTAGTCTTTCGAGTATTACT	0.438																																						uc003pah.1																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10744-10746)GAA>AAA		fibrocystin isoform 1		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	87.0	88.0	88.0		10744	4.2	1.0	6	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKHD1	NM_138694.3	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	3582/4075	51524180	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524180C>T	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.10744G>A	6.37:g.51524180C>T	ENSP00000360158:p.Glu3582Lys						p.E3582K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	11020	-	Lung NSC(77;0.0605)		3582			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10744G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	6.637	0.485911	0.12641	2.27E-4	1.16E-4	ENSG00000170927	ENST00000371117	D	0.85484	-1.99	5.92	4.16	0.48862	.	0.496761	0.20888	N	0.083869	T	0.66548	0.2800	M	0.62723	1.935	0.58432	D	0.999999	P	0.36144	0.539	B	0.22753	0.041	T	0.64300	-0.6440	10	0.24483	T	0.36	.	9.871	0.41175	0.0:0.6217:0.2833:0.095	.	3582	P08F94	PKHD1_HUMAN	K	3582	ENSP00000360158:E3582K	ENSP00000360158:E3582K	E	-	1	0	PKHD1	51632139	0.998000	0.40836	0.990000	0.47175	0.104000	0.19210	1.886000	0.39688	0.853000	0.35312	-0.142000	0.14014	GAA		PASS	0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	35	21	35	---	---	---	---
IL17F	112744	broad.mit.edu	37	6	52101843	52101843	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:52101843C>T	ENST00000336123.4	-	3	485	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	126			E -> G (in dbSNP:rs2397084).		cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)	p.E126E(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CGACCAGGGTCTCTTGCTGGA	0.552																																						uc003pam.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(376-378)GAG>GAA		interleukin 17F precursor							95.0	87.0	90.0					6																	52101843		2203	4300	6503	SO:0001819	synonymous_variant	112744				cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	g.chr6:52101843C>T	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.378G>A	6.37:g.52101843C>T						IL17F_uc003pal.1_Silent_p.E72E	p.E126E	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN			3	449	-	Lung NSC(77;0.116)		126					Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Silent	SNP	ENST00000336123.4	37	c.378G>A	CCDS4938.1																																																																																				PASS	0.552	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		15	36	15	36	---	---	---	---
TRAM2	9697	broad.mit.edu	37	6	52370924	52370924	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:52370924G>A	ENST00000182527.3	-	8	636	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	213	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.L213L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ATCAGGCCCAGGCGGCTCAGG	0.537																																						uc003paq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(637-639)CTG>TTG		translocation-associated membrane protein 2							77.0	76.0	77.0					6																	52370924		2203	4300	6503	SO:0001819	synonymous_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370924G>A	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.637C>T	6.37:g.52370924G>A						EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA	p.L213L	NM_012288	NP_036420	Q15035	TRAM2_HUMAN			8	786	-	Lung NSC(77;0.109)		213			TLC.|Helical; (Potential).		A8K6T6	Silent	SNP	ENST00000182527.3	37	c.637C>T	CCDS34477.1																																																																																				PASS	0.537	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		21	30	21	30	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55214924	55214924	+	Silent	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:55214924A>C	ENST00000340465.2	+	4	437	c.351A>C	c.(349-351)ctA>ctC	p.L117L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	117					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L117L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAATCTAACTACACGTT	0.299																																						uc003pcm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(349-351)CTA>CTC		GDNF family receptor alpha like precursor							76.0	74.0	75.0					6																	55214924		2202	4297	6499	SO:0001819	synonymous_variant	389400					integral to membrane	receptor activity	g.chr6:55214924A>C	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.351A>C	6.37:g.55214924A>C							p.L117L	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		4	437	+	Lung NSC(77;0.0875)|Renal(3;0.122)		117			Extracellular (Potential).		Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.351A>C	CCDS4957.1																																																																																				PASS	0.299	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		8	21	8	21	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55223928	55223928	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:55223928C>T	ENST00000340465.2	+	6	1030	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	315					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S315L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGAAAATCATGTTTCAGT	0.343																																						uc003pcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(943-945)TCA>TTA		GDNF family receptor alpha like precursor							62.0	61.0	61.0					6																	55223928		2203	4299	6502	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223928C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.944C>T	6.37:g.55223928C>T	ENSP00000343636:p.Ser315Leu						p.S315L	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	1030	+	Lung NSC(77;0.0875)|Renal(3;0.122)		315			Extracellular (Potential).		Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.944C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941217	0.73557	.	.	ENSG00000187871	ENST00000340465	T	0.63417	-0.04	5.52	4.66	0.58398	GDNF/GAS1 (2);	0.157695	0.42682	D	0.000663	T	0.70193	0.3196	M	0.65498	2.005	0.39285	D	0.964639	D	0.89917	1.0	D	0.97110	1.0	T	0.74589	-0.3615	10	0.54805	T	0.06	-7.1541	14.1925	0.65646	0.0:0.9283:0.0:0.0717	.	315	Q6UXV0	GFRAL_HUMAN	L	315	ENSP00000343636:S315L	ENSP00000343636:S315L	S	+	2	0	GFRAL	55331887	1.000000	0.71417	0.682000	0.30024	0.971000	0.66376	5.350000	0.66016	1.327000	0.45338	0.557000	0.71058	TCA		PASS	0.343	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		19	27	19	27	---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55406863	55406863	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:55406863C>T	ENST00000398661.2	-	3	405	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.E62K|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.E62K|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.E62K|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.E62K|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.E62K	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	92					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.E92K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTACCTTTTCATTCTGCAAT	0.313																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(274-276)GAA>AAA		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							102.0	92.0	95.0					6																	55406863		1819	4080	5899	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55406863C>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.274G>A	6.37:g.55406863C>T	ENSP00000381654:p.Glu92Lys					HMGCLL1_uc003pco.2_Missense_Mutation_p.E62K|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E62K|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E62K	p.E92K	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	433	-	Lung NSC(77;0.0875)		92					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.274G>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524307	0.96431	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161;ENST00000428842	D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.75;-4.67;-4.88;-4.67	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94503	3.545	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.999;0.963;0.997;0.99;0.996	D;D;P;D;P;D	0.79108	0.948;0.992;0.767;0.919;0.834;0.942	D	0.98948	1.0793	10	0.87932	D	0	-0.071	20.4388	0.99107	0.0:1.0:0.0:0.0	.	62;62;62;62;62;92	B7Z4D4;B7Z212;F8W793;G5E9S9;Q8TB92-2;Q8TB92	.;.;.;.;.;HMGC2_HUMAN	K	62;92;62;62;62;62	ENSP00000274901:E62K;ENSP00000381654:E92K;ENSP00000359887:E62K;ENSP00000424309:E62K;ENSP00000309737:E62K;ENSP00000412924:E62K	ENSP00000274901:E62K	E	-	1	0	HMGCLL1	55514822	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.162000	0.64942	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.313	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		5	15	5	15	---	---	---	---
DST	667	broad.mit.edu	37	6	56368827	56368827	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:56368827C>T	ENST00000361203.3	-	73	18581	c.18574G>A	c.(18574-18576)Gaa>Aaa	p.E6192K	DST_ENST00000421834.2_Missense_Mutation_p.E4215K|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E4106K|DST_ENST00000370754.5_Missense_Mutation_p.E6481K|DST_ENST00000446842.2_Missense_Mutation_p.E5977K|DST_ENST00000244364.6_Missense_Mutation_p.E3889K|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E6303K			Q03001	DYST_HUMAN	dystonin	6192					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6303K(1)|p.E3889K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGACAGTTTCGAGATCTGTT	0.418																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(13177-13179)GAA>AAA		dystonin isoform 2							107.0	100.0	102.0					6																	56368827		1893	4111	6004	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56368827C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18574G>A	6.37:g.56368827C>T	ENSP00000354508:p.Glu6192Lys					DST_uc003pcz.3_Missense_Mutation_p.E4215K|DST_uc011dxj.1_Missense_Mutation_p.E4244K|DST_uc011dxk.1_Missense_Mutation_p.E4255K|DST_uc003pcy.3_Missense_Mutation_p.E3889K	p.E4393K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		72	13205	-	Lung NSC(77;0.103)		6301			Spectrin 14.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.13177G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.172912	0.78452	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000064	T	0.57504	0.2058	L	0.59436	1.845	0.32933	D	0.517344	D;D;D;P;P	0.89917	0.986;1.0;1.0;0.95;0.765	P;D;D;P;B	0.79108	0.755;0.992;0.934;0.571;0.23	T	0.46373	-0.9196	9	0.23302	T	0.38	.	19.4438	0.94838	0.0:1.0:0.0:0.0	.	4215;6303;6481;6301;3889	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	3889;6481;6303;4215;5977;4106;6192	ENSP00000244364:E3889K;ENSP00000359790:E6481K;ENSP00000359805:E6303K;ENSP00000400883:E4215K;ENSP00000393645:E5977K;ENSP00000359824:E4106K;ENSP00000354508:E6192K	ENSP00000244364:E3889K	E	-	1	0	DST	56476786	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.051000	0.71072	2.661000	0.90470	0.650000	0.86243	GAA		PASS	0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		16	37	16	37	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56917868	56917869	+	Missense_Mutation	DNP	CC	CC	TT	rs371660552		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:56917868_56917869CC>TT	ENST00000370733.4	+	4	778_779	c.571_572CC>TT	c.(571-573)CCt>TTt	p.P191F	KIAA1586_ENST00000545356.1_Missense_Mutation_p.P164F	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	191							nucleic acid binding (GO:0003676)	p.P191S(1)|p.P191L(1)|p.P191F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTAGTAACCCCTAATGGCAGT	0.371																																						uc003pdj.2																			3	Substitution - Missense(3)		lung(3)		0						c.(571-573)CCT>TCT|c.(571-573)CCT>CTT		hypothetical protein LOC57691																																				SO:0001583	missense	57691						nucleic acid binding	g.chr6:56917868C>T|g.chr6:56917869C>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	Exception_encountered	6.37:g.56917868_56917869delinsTT	ENSP00000359768:p.Pro191Phe					KIAA1586_uc011dxm.1_Missense_Mutation_p.P164S|KIAA1586_uc011dxm.1_Missense_Mutation_p.P164L	p.P191S|p.P191L	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	741|742	+	Lung NSC(77;0.0969)		191					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.571C>T|c.572C>T	CCDS34480.1																																																																																				PASS	0.371	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		15	44|46	15	44	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512508	57512508	+	3'UTR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:57512508C>T	ENST00000389488.2	+	0	1423				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.Q446*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCATCCTAATCATTTCTTTTG	0.353																																						uc003pdx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1336-1338)CAG>TAG		DNA primase polypeptide 2							248.0	213.0	224.0					6																	57512508		1928	4150	6078	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512508C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1420C>T	6.37:g.57512508C>T							p.Q446*	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1423	+			446					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Nonsense_Mutation	SNP	ENST00000389488.2	37	c.1336C>T																																																																																					PASS	0.353	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		23	115	23	115	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512648	57512648	+	3'UTR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:57512648C>T	ENST00000389488.2	+	0	1563				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.S492S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTAAATTCCTCTCTGGAAA	0.398																																						uc003pdx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1474-1476)TCC>TCT		DNA primase polypeptide 2							407.0	391.0	396.0					6																	57512648		1933	4138	6071	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512648C>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1560C>T	6.37:g.57512648C>T							p.S492S	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1563	+			492					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000389488.2	37	c.1476C>T																																																																																					PASS	0.398	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		54	432	54	432	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62442587	62442587	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:62442587C>T	ENST00000281156.4	-	7	1171	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.S298N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATGCCTTACCTTTGTGTTTG	0.373																																						uc003peg.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(892-894)AGT>AAT		KH domain-containing, RNA-binding, signal							173.0	169.0	170.0					6																	62442587		2203	4300	6503	SO:0001630	splice_region_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62442587C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.893+1G>A	6.37:g.62442587C>T							p.S298N	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1140	-			298					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.893G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426409	0.43020	.	.	ENSG00000112232	ENST00000281156	T	0.43294	0.95	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	L	0.36672	1.1	0.51767	D	0.999936	B	0.21225	0.053	B	0.21708	0.036	T	0.03728	-1.1009	9	.	.	.	-3.5265	17.2952	0.87169	0.0:1.0:0.0:0.0	.	298	Q5VWX1	KHDR2_HUMAN	N	298	ENSP00000281156:S298N	.	S	-	2	0	KHDRBS2	62500546	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.599000	0.61076	2.822000	0.97130	0.637000	0.83480	AGT		PASS	0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	Missense_Mutation	28	47	28	47	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62611264	62611264	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:62611264C>T	ENST00000281156.4	-	5	774	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.E166K(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGACGAATTTCATCATTGTAG	0.398																																						uc003peg.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(496-498)GAA>AAA		KH domain-containing, RNA-binding, signal							91.0	91.0	91.0					6																	62611264		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62611264C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.496G>A	6.37:g.62611264C>T	ENSP00000281156:p.Glu166Lys						p.E166K	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	743	-			166					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.496G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096552	0.94197	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.25250	1.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.15896	-1.0421	10	0.46703	T	0.11	-4.8058	20.8794	0.99867	0.0:1.0:0.0:0.0	.	166	Q5VWX1	KHDR2_HUMAN	K	166	ENSP00000281156:E166K	ENSP00000281156:E166K	E	-	1	0	KHDRBS2	62669223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.398	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		15	47	15	47	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990524	63990524	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:63990524G>A	ENST00000370657.4	-	4	965	c.932C>T	c.(931-933)tCa>tTa	p.S311L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	311					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.S311L(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAAATCCCTGAATCACAAAA	0.418																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(931-933)TCA>TTA		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						73.0	73.0	73.0					6																	63990524		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990524G>A	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.932C>T	6.37:g.63990524G>A	ENSP00000359691:p.Ser311Leu					LGSN_uc003pei.2_Intron	p.S311L	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	966	-			311					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.932C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755857	0.31046	.	.	ENSG00000146166	ENST00000370657	D	0.91180	-2.8	5.62	4.74	0.60224	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.113799	0.64402	D	0.000008	D	0.86585	0.5968	L	0.53780	1.695	0.80722	D	1	B	0.29835	0.258	B	0.37833	0.259	D	0.87677	0.2545	10	0.87932	D	0	-3.5803	13.0373	0.58879	0.0771:0.0:0.9229:0.0	.	311	Q5TDP6	LGSN_HUMAN	L	311	ENSP00000359691:S311L	ENSP00000359691:S311L	S	-	2	0	LGSN	64048483	1.000000	0.71417	0.982000	0.44146	0.003000	0.03518	5.413000	0.66399	2.652000	0.90054	0.655000	0.94253	TCA		PASS	0.418	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		22	39	22	39	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64394342	64394342	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:64394342G>A	ENST00000262043.3	+	4	1059	c.719G>A	c.(718-720)tGt>tAt	p.C240Y	PHF3_ENST00000393387.1_Missense_Mutation_p.C240Y|PHF3_ENST00000509330.1_Missense_Mutation_p.C240Y			Q92576	PHF3_HUMAN	PHD finger protein 3	240					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C240Y(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCATAAGTGTAATAATCCG	0.348																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(718-720)TGT>TAT		PHD finger protein 3							108.0	102.0	104.0					6																	64394342		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394342G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.719G>A	6.37:g.64394342G>A	ENSP00000262043:p.Cys240Tyr					PHF3_uc010kaf.1_Missense_Mutation_p.C240Y|PHF3_uc003pem.2_Missense_Mutation_p.C193Y|PHF3_uc010kag.1_Missense_Mutation_p.C152Y|PHF3_uc010kah.1_Missense_Mutation_p.C54Y|PHF3_uc003pen.2_Missense_Mutation_p.C152Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.C240Y	p.C240Y	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	745	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		240					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.719G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	9.030	0.987161	0.18889	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.46819	1.9;1.83;2.19;1.85;0.86;2.19	5.54	5.54	0.83059	.	0.000000	0.40640	N	0.001054	T	0.41994	0.1183	L	0.60455	1.87	0.09310	N	1	P;D	0.65815	0.875;0.995	B;P	0.58172	0.359;0.834	T	0.50651	-0.8803	10	0.72032	D	0.01	-10.7073	5.0708	0.14606	0.0792:0.156:0.6224:0.1424	.	240;240	Q92576;D6R9X2	PHF3_HUMAN;.	Y	54;152;240;193;240;240	ENSP00000424694:C54Y;ENSP00000425227:C152Y;ENSP00000262043:C240Y;ENSP00000424078:C193Y;ENSP00000422841:C240Y;ENSP00000377048:C240Y	ENSP00000262043:C240Y	C	+	2	0	PHF3	64452301	0.147000	0.22687	0.896000	0.35187	0.973000	0.67179	1.923000	0.40055	2.593000	0.87608	0.650000	0.86243	TGT		PASS	0.348	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			28	57	28	57	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70637811	70637811	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:70637811C>T	ENST00000322773.4	+	5	379	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	93	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.P93S(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						TAAGATATTTCCCAAAGGCCT	0.413																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(277-279)CCC>TCC		alpha 1 type XIX collagen precursor							126.0	126.0	126.0					6																	70637811		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.chr6:70637811C>T		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.277C>T	6.37:g.70637811C>T	ENSP00000316030:p.Pro93Ser					COL19A1_uc010kam.1_5'UTR	p.P93S	NM_001858	NP_001849	Q14993	COJA1_HUMAN			5	394	+			93			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.277C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628482	0.28978	.	.	ENSG00000082293	ENST00000322773	T	0.30981	1.51	5.61	5.61	0.85477	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.52500	0.1738	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47873	-0.9083	10	0.35671	T	0.21	.	19.6289	0.95691	0.0:1.0:0.0:0.0	.	93	Q14993	COJA1_HUMAN	S	93	ENSP00000316030:P93S	ENSP00000316030:P93S	P	+	1	0	COL19A1	70694532	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	7.295000	0.78780	2.633000	0.89246	0.655000	0.94253	CCC		PASS	0.413	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			20	55	20	55	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70639419	70639420	+	Missense_Mutation	DNP	CC	CC	TT	rs112596596	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:70639419_70639420CC>TT	ENST00000322773.4	+	6	595_596	c.493_494CC>TT	c.(493-495)CCt>TTt	p.P165F		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	165	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.P165S(1)|p.P165F(1)|p.P165L(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						AGAACTCCGTCCTTTGTTTGAT	0.391																																						uc003pfc.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)	4						c.(493-495)CCT>TCT|c.(493-495)CCT>CTT		alpha 1 type XIX collagen precursor																																				SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639419C>T|g.chr6:70639420C>T		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	Exception_encountered	6.37:g.70639419_70639420delinsTT	ENSP00000316030:p.Pro165Phe					COL19A1_uc010kam.1_Missense_Mutation_p.P61S|COL19A1_uc010kam.1_Missense_Mutation_p.P61L	p.P165S|p.P165L	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	610|611	+			165			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.493C>T|c.494C>T	CCDS4970.1																																																																																				PASS	0.391	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			13	35	13	35	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70935639	70935639	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:70935639G>A	ENST00000357250.6	-	37	2735	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.L616L|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Silent_p.L616L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	859	Collagen-like 10.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.L616L(1)|p.L859L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACTTACCTGGGAGACCTATAG	0.423																																						uc003pfg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2575-2577)CTC>CTT		alpha 1 type IX collagen isoform 1 precursor							79.0	74.0	76.0					6																	70935639		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70935639G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2577C>T	6.37:g.70935639G>A						COL9A1_uc003pfe.3_Silent_p.L408L|COL9A1_uc003pff.3_Silent_p.L616L	p.L859L	NM_001851	NP_001842	P20849	CO9A1_HUMAN			37	2736	-			859			Triple-helical region (COL1).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.2577C>T	CCDS4971.1																																																																																				PASS	0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			17	41	17	41	---	---	---	---
SMAP1	60682	broad.mit.edu	37	6	71567878	71567878	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:71567878C>T	ENST00000370455.3	+	10	1463	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	SMAP1_ENST00000370452.3_Silent_p.P378P|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Silent_p.P378P	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	405					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P405P(1)|p.P378P(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGGGTGCACCCCAGAGTAAGT	0.522																																						uc003pfr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1213-1215)CCC>CCT		stromal membrane-associated GTPase-activating							54.0	51.0	52.0					6																	71567878		2203	4300	6503	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71567878C>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.1215C>T	6.37:g.71567878C>T						SMAP1_uc003pfs.2_Silent_p.P378P|SMAP1_uc010kao.2_Silent_p.P378P|SMAP1_uc010kap.2_Silent_p.P395P	p.P405P	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			10	1463	+			405					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.1215C>T	CCDS43478.1																																																																																				PASS	0.522	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		13	25	13	25	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72957740	72957740	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:72957740G>A	ENST00000521978.1	+	12	2151	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q	RIMS1_ENST00000401910.3_Silent_p.Q191Q|RIMS1_ENST00000517960.1_Silent_p.Q717Q|RIMS1_ENST00000517827.1_Silent_p.Q176Q|RIMS1_ENST00000518273.1_Silent_p.Q717Q|RIMS1_ENST00000491071.2_Silent_p.Q717Q|RIMS1_ENST00000520567.1_Silent_p.Q717Q|RIMS1_ENST00000264839.7_Silent_p.Q717Q|RIMS1_ENST00000348717.5_Silent_p.Q717Q|RIMS1_ENST00000523963.1_Silent_p.Q191Q|RIMS1_ENST00000425662.2_Silent_p.Q110Q|RIMS1_ENST00000522291.1_Silent_p.Q717Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	717					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.Q717Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTGAATCTCAGAAGATGGAAA	0.328																																						uc003pga.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2149-2151)CAG>CAA		regulating synaptic membrane exocytosis 1							115.0	107.0	109.0					6																	72957740		1801	4071	5872	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72957740G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2151G>A	6.37:g.72957740G>A						RIMS1_uc011dyb.1_Silent_p.Q343Q|RIMS1_uc003pgc.2_Silent_p.Q343Q|RIMS1_uc010kaq.2_Silent_p.Q191Q|RIMS1_uc011dyc.1_Silent_p.Q191Q|RIMS1_uc010kar.2_Silent_p.Q110Q|RIMS1_uc011dyd.1_Silent_p.Q176Q|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.Q343Q|RIMS1_uc010kas.1_Silent_p.Q176Q	p.Q717Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			12	2228	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	717					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.2151G>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848324	0.17034	.	.	ENSG00000079841	ENST00000517433	.	.	.	5.68	2.48	0.30137	.	.	.	.	.	T	0.42562	0.1208	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32877	-0.9890	4	.	.	.	-16.5935	8.1536	0.31156	0.3981:0.0:0.6019:0.0	.	.	.	.	K	291	.	.	E	+	1	0	RIMS1	73014461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.036000	0.41165	0.873000	0.35799	0.650000	0.86243	GAA		PASS	0.328	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			20	39	20	39	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72968786	72968786	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:72968786G>A	ENST00000521978.1	+	18	3025	c.3025G>A	c.(3025-3027)Gat>Aat	p.D1009N	RIMS1_ENST00000401910.3_Missense_Mutation_p.D482N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D1008N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D468N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D1009N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D1009N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D1008N|RIMS1_ENST00000264839.7_Missense_Mutation_p.D1009N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D1008N|RIMS1_ENST00000523963.1_Missense_Mutation_p.D483N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D402N|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.D1008N	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1009					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.D1009N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGAGATGTGGATAGTCAGTA	0.363																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3025-3027)GAT>AAT		regulating synaptic membrane exocytosis 1							108.0	107.0	107.0					6																	72968786		1905	4118	6023	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968786G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3025G>A	6.37:g.72968786G>A	ENSP00000428417:p.Asp1009Asn					RIMS1_uc011dyb.1_Missense_Mutation_p.D634N|RIMS1_uc003pgc.2_Missense_Mutation_p.D635N|RIMS1_uc010kaq.2_Missense_Mutation_p.D482N|RIMS1_uc011dyc.1_Missense_Mutation_p.D483N|RIMS1_uc010kar.2_Missense_Mutation_p.D402N|RIMS1_uc011dyd.1_Missense_Mutation_p.D468N|RIMS1_uc003pgf.2_Missense_Mutation_p.D225N|RIMS1_uc003pgg.2_Missense_Mutation_p.D226N|RIMS1_uc003pgi.2_Missense_Mutation_p.D225N|RIMS1_uc003pgh.2_Missense_Mutation_p.D225N|RIMS1_uc003pgd.2_Missense_Mutation_p.D226N|RIMS1_uc003pge.2_Missense_Mutation_p.D226N|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.D635N|RIMS1_uc010kas.1_Missense_Mutation_p.D468N	p.D1009N	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			18	3102	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1009					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3025G>A	CCDS47449.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.04|16.04|16.04	3.010098|3.010098|3.010098	0.54361|0.54361|0.54361	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.20332|.|.	2.39;2.58;2.48;2.59;2.5;2.46;2.56;2.35;2.56;2.52;2.57;2.47;2.55;2.08|.|.	5.83|5.83|5.83	5.83|5.83|5.83	0.93111|0.93111|0.93111	.|.|.	0.078575|.|.	0.51477|.|.	D|.|.	0.000084|.|.	T|T|.	0.61073|0.61073|.	0.2318|0.2318|.	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;P;P;P;B;P;B;B;D;B;P;P|.|.	0.69078|.|.	0.129;0.598;0.77;0.944;0.075;0.862;0.204;0.104;0.997;0.159;0.856;0.77|.|.	B;B;B;P;B;B;B;B;D;B;B;B|.|.	0.73380|.|.	0.041;0.135;0.427;0.504;0.041;0.445;0.046;0.024;0.98;0.187;0.312;0.411|.|.	T|T|.	0.54931|0.54931|.	-0.8219|-0.8219|.	10|5|.	0.66056|.|.	D|.|.	0.02|.|.	-13.9813|-13.9813|-13.9813	20.1338|20.1338|20.1338	0.98010|0.98010|0.98010	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	468;483;1009;468;482;1008;261;1009;1008;262;1009;1009|.|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.|.	N|E|X	1009;1009;1009;1008;1009;1008;1009;1008;1009;1008;1008;1009;482;483;402;402;468;234|582|99	ENSP00000430101:D1009N;ENSP00000275037:D1008N;ENSP00000264839:D1009N;ENSP00000429959:D1008N;ENSP00000430408:D1009N;ENSP00000430502:D1008N;ENSP00000430932:D1008N;ENSP00000428417:D1009N;ENSP00000385649:D482N;ENSP00000428328:D483N;ENSP00000411235:D402N;ENSP00000389503:D402N;ENSP00000428367:D468N;ENSP00000359448:D234N|.|.	ENSP00000264839:D1009N|.|.	D|G|W	+|+|+	1|2|3	0|0|0	RIMS1|RIMS1|RIMS1	73025507|73025507|73025507	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.268000|0.268000|0.268000	0.26511|0.26511|0.26511	7.126000|7.126000|7.126000	0.77201|0.77201|0.77201	2.770000|2.770000|2.770000	0.95276|0.95276|0.95276	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GGA|TGG		PASS	0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			33	34	33	34	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73108740	73108740	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:73108740C>T	ENST00000521978.1	+	33	4804	c.4804C>T	c.(4804-4806)Cct>Tct	p.P1602S	RIMS1_ENST00000401910.3_Missense_Mutation_p.P922S|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1385S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P736S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1281S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1391S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1252S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P1451S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1385S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P727S|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000425662.2_Missense_Mutation_p.P670S|RIMS1_ENST00000538414.1_Missense_Mutation_p.P408S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1201S|RIMS1_ENST00000414192.2_Missense_Mutation_p.P129S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1602	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.P1602S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AACCCTTGATCCTTTGTATCA	0.363																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(4804-4806)CCT>TCT		regulating synaptic membrane exocytosis 1							127.0	124.0	125.0					6																	73108740		1826	4085	5911	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73108740C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4804C>T	6.37:g.73108740C>T	ENSP00000428417:p.Pro1602Ser					RIMS1_uc011dyb.1_Missense_Mutation_p.P999S|RIMS1_uc003pgc.2_Missense_Mutation_p.P1017S|RIMS1_uc010kaq.2_Missense_Mutation_p.P922S|RIMS1_uc011dyc.1_Missense_Mutation_p.P727S|RIMS1_uc010kar.2_Missense_Mutation_p.P670S|RIMS1_uc011dyd.1_Missense_Mutation_p.P736S|RIMS1_uc003pgf.2_Missense_Mutation_p.P602S|RIMS1_uc003pgg.2_Missense_Mutation_p.P498S|RIMS1_uc003pgi.2_Missense_Mutation_p.P418S|RIMS1_uc003pgh.2_Missense_Mutation_p.P469S|RIMS1_uc003pgd.2_Missense_Mutation_p.P668S|RIMS1_uc003pge.2_Missense_Mutation_p.P642S|RIMS1_uc011dye.1_Missense_Mutation_p.P408S|RIMS1_uc011dyf.1_Missense_Mutation_p.P226S|RIMS1_uc011dyg.1_Missense_Mutation_p.P129S	p.P1602S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			33	4881	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1602			C2 2.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4804C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161961|5.161961	0.94727|0.94727	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000517433	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91237|.	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81|.	5.37|5.37	5.37|5.37	0.77165|0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.91660|0.91660	0.7364|0.7364	H|H	0.99689|0.99689	4.705|4.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;0.999;1.0;0.993;1.0;0.996;1.0;0.993;0.997;0.997;0.996;0.998|.	D|D	0.95165|0.95165	0.8285|0.8285	10|5	0.87932|.	D|.	0|.	-22.7354|-22.7354	19.4549|19.4549	0.94884|0.94884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	226;408;736;727;1451;922;1201;505;1281;1385;678;1391;1602|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	S|F	1391;1451;1391;1385;1281;1201;1451;1385;1281;1252;1201;1602;922;727;670;736;650;408;129|947	ENSP00000430101:P1391S;ENSP00000275037:P1385S;ENSP00000264839:P1451S;ENSP00000429959:P1385S;ENSP00000430408:P1281S;ENSP00000430502:P1252S;ENSP00000430932:P1201S;ENSP00000428417:P1602S;ENSP00000385649:P922S;ENSP00000428328:P727S;ENSP00000411235:P670S;ENSP00000428367:P736S;ENSP00000359448:P650S;ENSP00000439730:P408S;ENSP00000402273:P129S|.	ENSP00000264839:P1451S|.	P|S	+|+	1|2	0|0	RIMS1|RIMS1	73165461|73165461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.714000|7.714000	0.84703|0.84703	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CCT|TCC		PASS	0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			22	40	22	40	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73713679	73713679	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:73713679C>T	ENST00000370398.1	+	2	556	c.447C>T	c.(445-447)atC>atT	p.I149I	KCNQ5_ENST00000402622.2_Silent_p.I149I|KCNQ5_ENST00000370392.1_Silent_p.I149I|KCNQ5_ENST00000355635.3_Silent_p.I149I|KCNQ5_ENST00000355194.4_Silent_p.I149I|KCNQ5_ENST00000342056.2_Silent_p.I149I|KCNQ5_ENST00000403813.2_Silent_p.I149I|KCNQ5_ENST00000414165.2_Silent_p.I149I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	149					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.I149I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTCTACCATCCCTGAGCACA	0.363																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(445-447)ATC>ATT		potassium voltage-gated channel, KQT-like							201.0	169.0	180.0					6																	73713679		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73713679C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.447C>T	6.37:g.73713679C>T						KCNQ5_uc003pgj.3_Silent_p.I149I|KCNQ5_uc011dyh.1_Silent_p.I149I|KCNQ5_uc011dyi.1_Silent_p.I149I|KCNQ5_uc010kat.2_Silent_p.I149I|KCNQ5_uc011dyj.1_Silent_p.I149I|KCNQ5_uc011dyk.1_5'UTR	p.I149I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	2	794	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	149					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.447C>T	CCDS4976.1																																																																																				PASS	0.363	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		18	37	18	37	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73787531	73787531	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:73787531C>T	ENST00000370398.1	+	5	948	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KCNQ5_ENST00000402622.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000370392.1_Missense_Mutation_p.S280L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S280L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S280L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S280L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S280L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	280					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.S280L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CTTATTTTTTCGTCTTTCCTT	0.338																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(838-840)TCG>TTG		potassium voltage-gated channel, KQT-like							138.0	118.0	125.0					6																	73787531		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787531C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.839C>T	6.37:g.73787531C>T	ENSP00000359425:p.Ser280Leu					KCNQ5_uc003pgj.3_Missense_Mutation_p.S280L|KCNQ5_uc011dyh.1_Missense_Mutation_p.S280L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S280L|KCNQ5_uc010kat.2_Missense_Mutation_p.S280L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S280L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S39L	p.S280L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	5	1186	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	280			Helical; Name=Segment S5; (Potential).		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.839C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.86	5.86	0.93980	Ion transport (1);	0.066132	0.64402	D	0.000006	D	0.97383	0.9144	L	0.58354	1.805	0.80722	D	1	P;P;D;D;P;P	0.61080	0.55;0.937;0.981;0.989;0.949;0.521	B;B;P;P;P;B	0.57101	0.167;0.358;0.813;0.778;0.687;0.054	D	0.97285	0.9920	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	280;280;280;280;280;280	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	L	280	ENSP00000345055:S280L;ENSP00000347326:S280L;ENSP00000359425:S280L;ENSP00000359419:S280L;ENSP00000385501:S280L;ENSP00000347853:S280L;ENSP00000384453:S280L;ENSP00000409861:S280L	ENSP00000345055:S280L	S	+	2	0	KCNQ5	73844252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TCG		PASS	0.338	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		13	17	13	17	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74477809	74477809	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:74477809G>A	ENST00000287097.5	+	14	1641	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	CD109_ENST00000437994.2_Missense_Mutation_p.G510E|CD109_ENST00000422508.2_Missense_Mutation_p.G433E			Q6YHK3	CD109_HUMAN	CD109 molecule	510					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.G510E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGCTGTAGGAAAACAAAAT	0.358																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(1528-1530)GGA>GAA		CD109 antigen isoform 1 precursor							99.0	105.0	103.0					6																	74477809		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74477809G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1529G>A	6.37:g.74477809G>A	ENSP00000287097:p.Gly510Glu					CD109_uc010kaz.2_Missense_Mutation_p.G510E|CD109_uc003phq.2_Missense_Mutation_p.G510E|CD109_uc010kba.2_Missense_Mutation_p.G433E	p.G510E	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			14	1954	+			510					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1529G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696043	0.68386	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.64260	-0.09;-0.09;-0.09	4.39	4.39	0.52855	Alpha-2-macroglobulin, N-terminal 2 (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.45352	1.415	0.47621	D	0.999478	D;D;D;D	0.89917	0.991;1.0;0.998;0.995	D;D;D;D	0.97110	0.926;1.0;0.972;0.966	T	0.71397	-0.4605	10	0.72032	D	0.01	.	16.2349	0.82365	0.0:0.0:1.0:0.0	.	433;510;510;510	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	E	510;433;510	ENSP00000388062:G510E;ENSP00000404475:G433E;ENSP00000287097:G510E	ENSP00000287097:G510E	G	+	2	0	CD109	74534530	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.419000	0.73345	2.436000	0.82500	0.313000	0.20887	GGA		PASS	0.358	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		15	35	15	35	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:76023417G>A	ENST00000237172.7	-	5	2461	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000393004.2_Missense_Mutation_p.R711W|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2131-2133)CGG>TGG		filamin A interacting protein 1							169.0	175.0	173.0					6																	76023417		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023417G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2131C>T	6.37:g.76023417G>A	ENSP00000237172:p.Arg711Trp					FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.2_Missense_Mutation_p.R612W|FILIP1_uc010kbe.2_Missense_Mutation_p.R714W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W	p.R711W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2504	-			711			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2131C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380895	0.42207	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.22945	1.93;1.94;1.94	5.45	4.58	0.56647	.	0.185091	0.48767	D	0.000173	T	0.23572	0.0570	N	0.22421	0.69	0.26962	N	0.965797	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.70227	0.874;0.929;0.968	T	0.16424	-1.0403	10	0.87932	D	0	-16.1962	15.602	0.76631	0.0:0.0:0.8612:0.1388	.	711;711;711	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	711;711;612	ENSP00000376728:R711W;ENSP00000237172:R711W;ENSP00000359037:R612W	ENSP00000237172:R711W	R	-	1	2	FILIP1	76080137	1.000000	0.71417	0.719000	0.30619	0.988000	0.76386	3.391000	0.52530	1.290000	0.44636	0.563000	0.77884	CGG		PASS	0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		41	93	41	93	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76023520	76023520	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:76023520G>A	ENST00000237172.7	-	5	2358	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	FILIP1_ENST00000370020.1_Silent_p.F577F|FILIP1_ENST00000393004.2_Silent_p.F676F|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	676								p.F676F(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGAGAGAGGAAGTTAGCCT	0.433																																						uc003pia.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(2026-2028)TTC>TTT		filamin A interacting protein 1							233.0	233.0	233.0					6																	76023520		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76023520G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2028C>T	6.37:g.76023520G>A						FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.2_Silent_p.F577F|FILIP1_uc010kbe.2_Silent_p.F679F|FILIP1_uc003pib.1_Silent_p.F428F	p.F676F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2401	-			676			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.2028C>T	CCDS4984.1																																																																																				PASS	0.433	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		43	115	43	115	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76589588	76589588	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:76589588C>T	ENST00000369977.3	+	21	2268	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369985.4_Missense_Mutation_p.S710L|MYO6_ENST00000369975.1_Missense_Mutation_p.S710L|MYO6_ENST00000369981.3_Missense_Mutation_p.S710L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	710	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.S710L(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)		TCACGAGCTTCATTTCATGAA	0.408																																						uc003pih.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(2128-2130)TCA>TTA		myosin VI							169.0	154.0	159.0					6																	76589588		2203	4300	6503	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.chr6:76589588C>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.2129C>T	6.37:g.76589588C>T	ENSP00000358994:p.Ser710Leu					MYO6_uc003pig.1_Missense_Mutation_p.S710L|MYO6_uc003pii.1_Missense_Mutation_p.S710L	p.S710L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	21	2408	+		all_hematologic(105;0.189)	710			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.2129C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458147	0.43634	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.28	5.28	0.74379	.	0.119890	0.64402	D	0.000017	T	0.34890	0.0913	N	0.11000	0.08	0.80722	D	1	P;B	0.41450	0.75;0.325	B;B	0.35550	0.205;0.029	T	0.47328	-0.9126	10	0.10377	T	0.69	.	19.2649	0.93982	0.0:1.0:0.0:0.0	.	710;710	Q9UM54-2;Q9UM54-1	.;.	L	710	ENSP00000358998:S710L;ENSP00000359002:S710L;ENSP00000358994:S710L;ENSP00000358992:S710L	ENSP00000358992:S710L	S	+	2	0	MYO6	76646308	1.000000	0.71417	0.993000	0.49108	0.355000	0.29361	7.424000	0.80242	2.632000	0.89209	0.655000	0.94253	TCA		PASS	0.408	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		26	44	26	44	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80201433	80201433	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:80201433C>T	ENST00000392959.1	-	7	1581	c.970G>A	c.(970-972)Gat>Aat	p.D324N	LCA5_ENST00000467898.3_Missense_Mutation_p.D324N|LCA5_ENST00000369846.4_Missense_Mutation_p.D324N	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	324					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.D324N(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTGCAAAATCACTCTGGCAT	0.313																																						uc003pix.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GAT>AAT		Leber congenital amaurosis 5							174.0	169.0	171.0					6																	80201433		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80201433C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.970G>A	6.37:g.80201433C>T	ENSP00000376686:p.Asp324Asn					LCA5_uc003piy.2_Missense_Mutation_p.D324N|LCA5_uc011dyq.1_RNA	p.D324N	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	6	1405	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	324					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.970G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128697	0.37533	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.31510	1.49;1.49	5.11	5.11	0.69529	.	0.463782	0.23173	N	0.051116	T	0.15869	0.0382	M	0.71036	2.16	0.28505	N	0.913812	B	0.28082	0.2	B	0.29077	0.098	T	0.08207	-1.0733	10	0.18710	T	0.47	-22.7469	9.7697	0.40582	0.0:0.908:0.0:0.092	.	324	Q86VQ0	LCA5_HUMAN	N	324	ENSP00000358861:D324N;ENSP00000376686:D324N	ENSP00000358861:D324N	D	-	1	0	LCA5	80258152	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.675000	0.46875	2.814000	0.96858	0.591000	0.81541	GAT		PASS	0.313	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		22	73	22	73	---	---	---	---
ME1	4199	broad.mit.edu	37	6	83921765	83921765	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:83921765G>A	ENST00000369705.3	-	14	1713	c.1597C>T	c.(1597-1599)Ccg>Tcg	p.P533S	ME1_ENST00000541327.1_Missense_Mutation_p.P367S|ME1_ENST00000543031.1_Missense_Mutation_p.P458S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	533					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.P533S(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TTGTTTTGCGGTTCAGGATAA	0.343																																						uc003pjy.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1597-1599)CCG>TCG		cytosolic malic enzyme 1	NADH(DB00157)						143.0	136.0	138.0					6																	83921765		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83921765G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1597C>T	6.37:g.83921765G>A	ENSP00000358719:p.Pro533Ser					ME1_uc011dzb.1_Missense_Mutation_p.P458S|ME1_uc011dzc.1_Missense_Mutation_p.P367S	p.P533S	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	14	1703	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	533					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1597C>T	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106025	0.56291	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66472	-0.5915	10	0.72032	D	0.01	-5.0629	18.9687	0.92707	0.0:0.0:1.0:0.0	.	533	P48163	MAOX_HUMAN	S	533;193;367;458	ENSP00000358719:P533S;ENSP00000439912:P367S;ENSP00000446114:P458S	ENSP00000358719:P533S	P	-	1	0	ME1	83978484	1.000000	0.71417	0.881000	0.34555	0.147000	0.21601	7.398000	0.79919	2.770000	0.95276	0.637000	0.83480	CCG		PASS	0.343	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			19	43	19	43	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446757	85446757	+	Silent	SNP	C	C	A	rs139629340		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:85446757C>A	ENST00000369663.5	-	8	1807	c.1470G>T	c.(1468-1470)tcG>tcT	p.S490S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	490					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGGACATTCCCGAAATCTGCA	0.532																																						uc003pkl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1468-1470)TCG>TCT		T-box 18							154.0	158.0	156.0					6																	85446757		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446757C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1470G>T	6.37:g.85446757C>A						TBX18_uc010kbq.1_Intron	p.S490S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1470	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	490					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1470G>T	CCDS34495.1																																																																																				PASS	0.532	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		5	136	5	136	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86227558	86227558	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:86227558G>A	ENST00000314673.3	-	23	2360	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F	SNX14_ENST00000513865.1_Silent_p.F447F|SNX14_ENST00000346348.3_Silent_p.F675F|SNX14_ENST00000505648.1_Silent_p.F676F|SNX14_ENST00000369627.2_Silent_p.F719F|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	728					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.F728F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGAATTAATGAAATTCATGA	0.343																																						uc003pkr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2182-2184)TTC>TTT		sorting nexin 14 isoform a							123.0	119.0	121.0					6																	86227558		2203	4300	6503	SO:0001819	synonymous_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86227558G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2184C>T	6.37:g.86227558G>A						SNX14_uc003pkp.2_Silent_p.F591F|SNX14_uc003pkq.2_Silent_p.F334F|SNX14_uc011dzg.1_Silent_p.F676F|SNX14_uc003pks.2_Silent_p.F675F|SNX14_uc003pkt.2_Silent_p.F719F	p.F728F	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	23	2377	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	728					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	c.2184C>T	CCDS5004.1																																																																																				PASS	0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		12	36	12	36	---	---	---	---
SNX14	57231	broad.mit.edu	37	6	86256914	86256914	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:86256914C>T	ENST00000314673.3	-	12	1200	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SNX14_ENST00000513865.1_Missense_Mutation_p.E342K|SNX14_ENST00000346348.3_Missense_Mutation_p.E298K|SNX14_ENST00000505648.1_Missense_Mutation_p.E290K|SNX14_ENST00000369627.2_Missense_Mutation_p.E342K|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	342	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.E342K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCTTGTTGCTCTCTGATTTGC	0.348																																						uc003pkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)GAG>AAG		sorting nexin 14 isoform a							91.0	81.0	84.0					6																	86256914		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86256914C>T	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1024G>A	6.37:g.86256914C>T	ENSP00000313121:p.Glu342Lys					SNX14_uc003pkp.2_Missense_Mutation_p.E205K|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.E290K|SNX14_uc003pks.2_Missense_Mutation_p.E298K|SNX14_uc003pkt.2_Missense_Mutation_p.E342K	p.E342K	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	12	1217	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	342			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.1024G>A	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077129	0.36662	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46;4.46	5.39	4.51	0.55191	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.196102	0.52532	D	0.000070	T	0.00608	0.0020	N	0.19112	0.55	0.44736	D	0.997734	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.11329	0.004;0.004;0.006;0.001	T	0.47100	-0.9143	10	0.07813	T	0.8	-14.6086	9.8294	0.40932	0.0:0.8482:0.0:0.1518	.	342;298;342;290	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	K	298;342;342;290;342;269	ENSP00000257769:E298K;ENSP00000313121:E342K;ENSP00000420938:E342K;ENSP00000427380:E290K;ENSP00000358641:E342K;ENSP00000425630:E269K	ENSP00000313121:E342K	E	-	1	0	SNX14	86313633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.502000	0.60400	2.525000	0.85131	0.655000	0.94253	GAG		PASS	0.348	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		11	29	11	29	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88773909	88773909	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:88773909T>G	ENST00000237201.1	+	6	820	c.703T>G	c.(703-705)Ttc>Gtc	p.F235V	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	235					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.F235V(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)		ATTTATAATTTTCTTATTGAT	0.388																																						uc003pmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)TTC>GTC		sperm acrosome associated 1 precursor							129.0	129.0	129.0					6																	88773909		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88773909T>G	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.703T>G	6.37:g.88773909T>G	ENSP00000237201:p.Phe235Val						p.F235V	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	6	820	+		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)	235			Helical; (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.703T>G	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.597688	0.46318	.	.	ENSG00000118434	ENST00000237201	T	0.56941	0.43	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000003	T	0.64616	0.2614	M	0.69823	2.125	0.43814	D	0.996378	D	0.89917	1.0	D	0.85130	0.997	T	0.70219	-0.4932	10	0.87932	D	0	-17.947	13.2999	0.60319	0.0:0.0:0.0:1.0	.	235	Q9HBV2	SACA1_HUMAN	V	235	ENSP00000237201:F235V	ENSP00000237201:F235V	F	+	1	0	SPACA1	88830628	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	3.957000	0.56730	2.179000	0.69175	0.477000	0.44152	TTC		PASS	0.388	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			24	38	24	38	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90420499	90420499	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:90420499G>A	ENST00000369393.3	-	50	7781	c.7666C>T	c.(7666-7668)Cat>Tat	p.H2556Y	MDN1_ENST00000428876.1_Missense_Mutation_p.H2556Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2556					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.H2556Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTTCCAAATGAATTTGTATG	0.403																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(7666-7668)CAT>TAT		MDN1, midasin homolog							74.0	71.0	72.0					6																	90420499		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90420499G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7666C>T	6.37:g.90420499G>A	ENSP00000358400:p.His2556Tyr						p.H2556Y	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	50	7782	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2556					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7666C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	5.941	0.357608	0.11239	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.65	2.78	0.32641	.	0.269068	0.37304	N	0.002145	T	0.00524	0.0017	N	0.14661	0.345	0.19945	N	0.999946	B	0.10296	0.003	B	0.08055	0.003	T	0.48139	-0.9061	10	0.02654	T	1	.	6.7472	0.23468	0.1256:0.0:0.6143:0.2602	.	2556	Q9NU22	MDN1_HUMAN	Y	2556	ENSP00000358400:H2556Y;ENSP00000413970:H2556Y	ENSP00000358400:H2556Y	H	-	1	0	MDN1	90477220	1.000000	0.71417	0.979000	0.43373	0.494000	0.33585	2.100000	0.41777	0.802000	0.34089	0.655000	0.94253	CAT		PASS	0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			11	10	11	10	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90450000	90450000	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:90450000G>A	ENST00000369393.3	-	32	4661	c.4546C>T	c.(4546-4548)Cgt>Tgt	p.R1516C	MDN1_ENST00000428876.1_Missense_Mutation_p.R1516C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1516					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R1516C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTAGAATACGAAATTTTTTC	0.408																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(4546-4548)CGT>TGT		MDN1, midasin homolog							117.0	114.0	115.0					6																	90450000		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90450000G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4546C>T	6.37:g.90450000G>A	ENSP00000358400:p.Arg1516Cys						p.R1516C	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	32	4662	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1516					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4546C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284019	0.59867	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.45668	0.89;0.89	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.81802	2.56	0.58432	D	0.999998	P	0.52061	0.95	P	0.52424	0.698	T	0.55250	-0.8170	10	0.59425	D	0.04	.	14.1282	0.65235	0.0:0.0:0.8497:0.1503	.	1516	Q9NU22	MDN1_HUMAN	C	1516	ENSP00000358400:R1516C;ENSP00000413970:R1516C	ENSP00000358400:R1516C	R	-	1	0	MDN1	90506721	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.600000	0.61083	2.625000	0.88918	0.562000	0.76482	CGT		PASS	0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			17	52	17	52	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90499892	90499892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:90499892G>A	ENST00000369393.3	-	6	1199	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q362*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	362					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.Q362*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGTCAGTCTGATCTCCAAGC	0.378																																						uc003pnn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)	10						c.(1084-1086)CAG>TAG		MDN1, midasin homolog							126.0	130.0	128.0					6																	90499892		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90499892G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1084C>T	6.37:g.90499892G>A	ENSP00000358400:p.Gln362*					MDN1_uc003pnp.1_Nonsense_Mutation_p.Q362*	p.Q362*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	6	1200	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	362					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.1084C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	38	7.172821	0.98114	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.9936	0.92803	0.0:0.0:1.0:0.0	.	.	.	.	X	362	.	ENSP00000358400:Q362X	Q	-	1	0	MDN1	90556613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.482000	0.83794	0.655000	0.94253	CAG		PASS	0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			41	73	41	73	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90605530	90605530	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:90605530G>A	ENST00000369352.1	+	1	1343	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.G448E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGTGACTCAGGAAGCTCTGGT	0.527																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)GGA>GAA		gap junction protein, alpha 10							133.0	130.0	131.0					6																	90605530		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605530G>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1343G>A	6.37:g.90605530G>A	ENSP00000358358:p.Gly448Glu						p.G448E	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1343	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	448			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1343G>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162185	0.38217	.	.	ENSG00000135355	ENST00000369352	D	0.97620	-4.46	4.81	2.86	0.33363	.	1.304990	0.05397	N	0.540076	D	0.88716	0.6512	L	0.43152	1.355	0.34797	D	0.736308	B	0.21071	0.051	B	0.14023	0.01	T	0.81302	-0.0994	10	0.19590	T	0.45	.	2.1779	0.03866	0.2418:0.0:0.4733:0.2849	.	448	Q969M2	CXA10_HUMAN	E	448	ENSP00000358358:G448E	ENSP00000358358:G448E	G	+	2	0	GJA10	90662251	0.913000	0.31002	0.996000	0.52242	0.817000	0.46193	1.041000	0.30291	1.250000	0.43966	0.563000	0.77884	GGA		PASS	0.527	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		20	63	20	63	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90642522	90642522	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:90642522G>T	ENST00000257749.4	-	9	2838	c.2131C>A	c.(2131-2133)Cag>Aag	p.Q711K	BACH2_ENST00000537989.1_Missense_Mutation_p.Q711K|BACH2_ENST00000343122.3_Missense_Mutation_p.Q711K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	711						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.Q711K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAACTTCCTGGGAAAGGCAG	0.542																																						uc011eab.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(2131-2133)CAG>AAG		BTB and CNC homology 1, basic leucine zipper							62.0	66.0	65.0					6																	90642522		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642522G>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2131C>A	6.37:g.90642522G>T	ENSP00000257749:p.Gln711Lys					BACH2_uc003pnw.2_Missense_Mutation_p.Q711K	p.Q711K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	2940	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	711					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2131C>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893061	0.33442	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39997	1.05;1.05;1.05	5.21	5.21	0.72293	.	0.055638	0.64402	D	0.000001	T	0.23171	0.0560	L	0.43152	1.355	0.40972	D	0.984704	B	0.17465	0.022	B	0.11329	0.006	T	0.03315	-1.1049	10	0.33940	T	0.23	-25.212	15.4843	0.75551	0.0:0.1388:0.8612:0.0	.	711	Q9BYV9	BACH2_HUMAN	K	711	ENSP00000257749:Q711K;ENSP00000437473:Q711K;ENSP00000345642:Q711K	ENSP00000257749:Q711K	Q	-	1	0	BACH2	90699243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.452000	0.73485	2.579000	0.87056	0.561000	0.74099	CAG		PASS	0.542	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		4	43	4	43	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93956676	93956676	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:93956676G>A	ENST00000369303.4	-	15	2744	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	854	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R854C(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTGGTAAACGATAACCTTCT	0.393																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2560-2562)CGT>TGT		ephrin receptor EphA7 precursor							79.0	79.0	79.0					6																	93956676		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956676G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2560C>T	6.37:g.93956676G>A	ENSP00000358309:p.Arg854Cys					EPHA7_uc003pof.2_Missense_Mutation_p.R849C|EPHA7_uc011eac.1_Missense_Mutation_p.R850C	p.R854C	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2801	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	854			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2560C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223091	0.95139	.	.	ENSG00000135333	ENST00000369303	D	0.85629	-2.01	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.96323	0.9238	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	850;849;854	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	C	854	ENSP00000358309:R854C	ENSP00000358309:R854C	R	-	1	0	EPHA7	94013397	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.751000	0.98889	2.838000	0.97847	0.591000	0.81541	CGT		PASS	0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	19	8	19	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	94120501	94120501	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:94120501G>A	ENST00000369303.4	-	3	734	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	EPHA7_ENST00000369297.1_Missense_Mutation_p.L184F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	184	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.L184F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGAAAGGCAAGATAGAATCCC	0.418																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(550-552)CTT>TTT		ephrin receptor EphA7 precursor							104.0	107.0	106.0					6																	94120501		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120501G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.550C>T	6.37:g.94120501G>A	ENSP00000358309:p.Leu184Phe					EPHA7_uc003pof.2_Missense_Mutation_p.L184F|EPHA7_uc011eac.1_Missense_Mutation_p.L184F|EPHA7_uc003pog.3_Missense_Mutation_p.L184F	p.L184F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	791	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	184			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.550C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932723	0.73442	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.19938	2.11;2.11	5.62	4.74	0.60224	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	M	0.72479	2.2	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;0.999;1.0	T	0.13899	-1.0492	10	0.87932	D	0	.	15.5133	0.75802	0.0697:0.0:0.9303:0.0	.	184;184;184;184	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	F	184	ENSP00000358309:L184F;ENSP00000358303:L184F	ENSP00000358303:L184F	L	-	1	0	EPHA7	94177222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.458000	0.60095	2.821000	0.97095	0.650000	0.86243	CTT		PASS	0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			10	45	10	45	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	94120690	94120690	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:94120690C>T	ENST00000369303.4	-	3	545	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	EPHA7_ENST00000369297.1_Missense_Mutation_p.E121K	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	121	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E121K(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTAAATGTTTCCTTGCAAGTT	0.368																																						uc003poe.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(361-363)GAA>AAA		ephrin receptor EphA7 precursor							122.0	126.0	125.0					6																	94120690		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120690C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.361G>A	6.37:g.94120690C>T	ENSP00000358309:p.Glu121Lys					EPHA7_uc003pof.2_Missense_Mutation_p.E121K|EPHA7_uc011eac.1_Missense_Mutation_p.E121K|EPHA7_uc003pog.3_Missense_Mutation_p.E121K	p.E121K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	602	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	121			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.361G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097976	0.94197	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.06294	3.32;3.32	5.47	5.47	0.80525	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.89917	0.974;1.0;1.0;1.0	D;D;D;D	0.91635	0.953;0.997;0.999;0.999	T	0.47058	-0.9146	10	0.87932	D	0	.	19.7457	0.96251	0.0:1.0:0.0:0.0	.	121;121;121;121	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	K	121	ENSP00000358309:E121K;ENSP00000358303:E121K	ENSP00000358303:E121K	E	-	1	0	EPHA7	94177411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.745000	0.94114	0.650000	0.86243	GAA		PASS	0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			25	36	25	36	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053795	96053795	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:96053795C>T	ENST00000358812.4	+	5	1037	c.903C>T	c.(901-903)gcC>gcT	p.A301A	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	301	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.A301A(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TGTTTATTGCCCTTCTGGTAG	0.378																																						uc003poo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(901-903)GCC>GCT		mannosidase, endo-alpha							112.0	108.0	109.0					6																	96053795		2203	4300	6503	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053795C>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.903C>T	6.37:g.96053795C>T							p.A301A	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1043	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	301			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.903C>T	CCDS5032.1																																																																																				PASS	0.378	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		14	36	14	36	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053988	96053988	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:96053988C>T	ENST00000358812.4	+	5	1230	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	366	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.R366C(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TACCAGCATCCGTCCATGGAA	0.418																																						uc003poo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1096-1098)CGT>TGT		mannosidase, endo-alpha							98.0	107.0	104.0					6																	96053988		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053988C>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1096C>T	6.37:g.96053988C>T	ENSP00000351669:p.Arg366Cys						p.R366C	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1236	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	366			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1096C>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043966	0.93685	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85473	0.1174	9	0.66056	D	0.02	-18.198	19.8676	0.96824	0.0:1.0:0.0:0.0	.	366	Q5SRI9	MANEA_HUMAN	C	366	.	ENSP00000351669:R366C	R	+	1	0	MANEA	96160709	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.341000	0.59335	2.941000	0.99782	0.655000	0.94253	CGT		PASS	0.418	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		42	86	42	86	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97512602	97512602	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:97512602G>A	ENST00000369261.4	+	5	774	c.411G>A	c.(409-411)caG>caA	p.Q137Q	KLHL32_ENST00000544166.1_Splice_Site_p.G8S|KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Splice_Site_p.Q101Q	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	137								p.Q137Q(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATCTCATCCAGGTATGTGAGC	0.512																																						uc010kcm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(409-411)CAG>CAA		kelch-like 32							140.0	103.0	116.0					6																	97512602		2203	4300	6503	SO:0001630	splice_region_variant	114792							g.chr6:97512602G>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.411+1G>A	6.37:g.97512602G>A						KLHL32_uc003poy.2_Silent_p.Q137Q|KLHL32_uc011ead.1_Silent_p.Q101Q|KLHL32_uc003poz.2_Missense_Mutation_p.G8S|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA	p.Q137Q	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	5	883	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	137					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.411G>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691557	0.96793	.	.	ENSG00000186231	ENST00000544166	D	0.82619	-1.63	5.4	5.4	0.78164	.	.	.	.	.	D	0.83229	0.5209	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.77627	-0.2517	8	0.06891	T	0.86	.	19.3659	0.94461	0.0:0.0:1.0:0.0	.	8	Q8IXH0	.	S	8	ENSP00000445453:G8S	ENSP00000445453:G8S	G	+	1	0	KLHL32	97619323	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.722000	0.91452	2.803000	0.96430	0.650000	0.86243	GGT		PASS	0.512	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	Silent	9	19	9	19	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97715802	97715802	+	Missense_Mutation	SNP	A	A	T	rs142406880	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:97715802A>T	ENST00000275053.4	-	8	1039	c.774T>A	c.(772-774)caT>caA	p.H258Q	MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Missense_Mutation_p.H258Q	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	258					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.H258Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAGTTTCACAATGTTCTTCAA	0.323																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CAT>CAA		hypothetical protein LOC253714							101.0	94.0	96.0					6																	97715802		2203	4298	6501	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97715802A>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.774T>A	6.37:g.97715802A>T	ENSP00000275053:p.His258Gln					C6orf167_uc011eaf.1_Missense_Mutation_p.H258Q|C6orf167_uc010kcn.1_Missense_Mutation_p.H32Q|C6orf167_uc010kco.1_Missense_Mutation_p.H32Q|C6orf167_uc003ppc.2_Missense_Mutation_p.H258Q	p.H258Q	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	8	1040	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	258					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.774T>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	9.431	1.085611	0.20390	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018	T;T;T	0.27104	1.69;1.69;1.69	5.26	-4.88	0.03113	.	0.057356	0.64402	N	0.000002	T	0.07052	0.0179	L	0.55103	1.725	0.34819	D	0.738502	B;B	0.18610	0.029;0.013	B;B	0.14578	0.011;0.007	T	0.17776	-1.0358	10	0.30854	T	0.27	-4.6016	6.9503	0.24542	0.291:0.0:0.4801:0.2289	.	258;258	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	Q	258;258;184	ENSP00000275053:H258Q;ENSP00000358254:H258Q;ENSP00000427288:H184Q	ENSP00000275053:H258Q	H	-	3	2	MMS22L	97822523	0.092000	0.21681	0.959000	0.39883	0.201000	0.24016	-0.563000	0.05943	-0.953000	0.03645	-0.480000	0.04831	CAT		PASS	0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		3	10	3	10	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100368897	100368897	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:100368897C>T	ENST00000281806.2	-	6	1256	c.942G>A	c.(940-942)caG>caA	p.Q314Q	MCHR2_ENST00000369212.2_Silent_p.Q314Q	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q314Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCAGACGTTTCTGGAAATTTC	0.438																																						uc003pqh.1																			1	Substitution - coding silent(1)	p.Q314R(1)	lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(940-942)CAG>CAA		melanin-concentrating hormone receptor 2							137.0	141.0	140.0					6																	100368897		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100368897C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.942G>A	6.37:g.100368897C>T						MCHR2_uc003pqi.1_Silent_p.Q314Q	p.Q314Q	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1257	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	314			Cytoplasmic (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.942G>A	CCDS5044.1																																																																																				PASS	0.438	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		34	63	34	63	---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107595288	107595288	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:107595288C>T	ENST00000369037.4	-	3	852	c.575G>A	c.(574-576)gGa>gAa	p.G192E	PDSS2_ENST00000369031.4_Missense_Mutation_p.G192E|PDSS2_ENST00000453874.2_Missense_Mutation_p.G192E	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	192					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.G192E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AAGAAAGTCTCCACTCAGGAT	0.413																																						uc003prt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(574-576)GGA>GAA		prenyl diphosphate synthase, subunit 2							130.0	122.0	125.0					6																	107595288		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107595288C>T	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.575G>A	6.37:g.107595288C>T	ENSP00000358033:p.Gly192Glu					PDSS2_uc011eak.1_Missense_Mutation_p.G56E|PDSS2_uc011eal.1_Missense_Mutation_p.G192E|PDSS2_uc003pru.2_Missense_Mutation_p.G192E|PDSS2_uc003prv.2_Missense_Mutation_p.G192E	p.G192E	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	3	865	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	192					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.575G>A	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916051	0.92178	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.78816	-1.21;-1.21;-1.21	5.55	5.55	0.83447	Terpenoid synthase (2);	0.105463	0.64402	D	0.000004	D	0.90834	0.7121	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92619	0.6106	10	0.87932	D	0	.	19.5053	0.95113	0.0:1.0:0.0:0.0	.	192;192;192;192	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	E	192	ENSP00000358033:G192E;ENSP00000399691:G192E;ENSP00000358027:G192E	ENSP00000358027:G192E	G	-	2	0	PDSS2	107701981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.435000	0.80391	2.616000	0.88540	0.585000	0.79938	GGA		PASS	0.413	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		24	58	24	58	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107955308	107955308	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:107955308C>T	ENST00000317357.5	+	6	1919	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.S420S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACCATGCCTCCAACCCCAACA	0.701																																						uc003prx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1258-1260)TCC>TCT		sine oculis binding protein homolog							55.0	65.0	62.0					6																	107955308		1984	4145	6129	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107955308C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1260C>T	6.37:g.107955308C>T							p.S420S	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1764	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	420			Pro-rich.			Silent	SNP	ENST00000317357.5	37	c.1260C>T	CCDS43488.1																																																																																				PASS	0.701	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		10	30	10	30	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107956400	107956400	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:107956400G>A	ENST00000317357.5	+	6	3011	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.G784G(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACCTGGACGGGGAGGCGGCCA	0.637																																						uc003prx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2350-2352)GGG>GGA		sine oculis binding protein homolog							40.0	49.0	46.0					6																	107956400		1993	4171	6164	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107956400G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2352G>A	6.37:g.107956400G>A							p.G784G	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2856	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	784						Silent	SNP	ENST00000317357.5	37	c.2352G>A	CCDS43488.1																																																																																				PASS	0.637	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		4	18	4	18	---	---	---	---
SCML4	256380	broad.mit.edu	37	6	108041962	108041963	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:108041962_108041963CC>TT	ENST00000369020.3	-	6	1162_1163	c.917_918GG>AA	c.(916-918)aGG>aAA	p.R306K	SCML4_ENST00000369021.3_Missense_Mutation_p.R277K|SCML4_ENST00000369025.2_Missense_Mutation_p.R64K|SCML4_ENST00000369022.2_Missense_Mutation_p.R248K|SCML4_ENST00000479803.1_5'UTR	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	306	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R277K(2)|p.R306K(2)|p.R277R(1)|p.R306R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGCTGGAGGCCTCAGCCCAGG	0.584																																						uc010kdf.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(916-918)AGG>AGA|c.(916-918)AGG>AAG		sex comb on midleg-like 4																																				SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108041962C>T|g.chr6:108041963C>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.917_918delinsTT	6.37:g.108041962_108041963delinsTT	ENSP00000358016:p.Arg306Lys					SCML4_uc003prz.3_Silent_p.R248R|SCML4_uc011eam.1_Silent_p.R306R|SCML4_uc003pry.3_Silent_p.R64R|SCML4_uc003psa.3_Silent_p.R277R|SCML4_uc003prz.3_Missense_Mutation_p.R248K|SCML4_uc011eam.1_Missense_Mutation_p.R306K|SCML4_uc003pry.3_Missense_Mutation_p.R64K|SCML4_uc003psa.3_Missense_Mutation_p.R277K	p.R306R|p.R306K	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	6	1169|1168	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	306			SAM.		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent|Missense_Mutation	SNP	ENST00000369020.3	37	c.918G>A|c.917G>A	CCDS5060.2																																																																																				PASS	0.584	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		26|27	44	26	44	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109190081	109190081	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:109190081C>T	ENST00000392644.4	+	4	514	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	116								p.P109S(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTTTTCCTTTCCTAAGCCCCC	0.517																																						uc003pss.3																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CCT>TCT		armadillo repeat containing 2							55.0	56.0	56.0					6																	109190081		2203	4300	6503	SO:0001583	missense	84071						binding	g.chr6:109190081C>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.346C>T	6.37:g.109190081C>T	ENSP00000376417:p.Pro116Ser					ARMC2_uc011eao.1_5'UTR	p.P116S	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	4	520	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)	116					A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	c.346C>T	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263838	0.59431	.	.	ENSG00000118690	ENST00000392644;ENST00000237512	T;T	0.50813	0.73;0.73	5.41	4.53	0.55603	.	0.131490	0.52532	D	0.000079	T	0.38639	0.1048	M	0.74881	2.28	0.80722	D	1	P	0.49253	0.921	P	0.45406	0.479	T	0.46992	-0.9151	10	0.66056	D	0.02	.	9.3278	0.38003	0.1637:0.6784:0.1579:0.0	.	116	Q8NEN0	ARMC2_HUMAN	S	116	ENSP00000376417:P116S;ENSP00000237512:P116S	ENSP00000237512:P116S	P	+	1	0	ARMC2	109296774	0.995000	0.38212	0.047000	0.18901	0.972000	0.66771	3.275000	0.51639	1.375000	0.46248	0.655000	0.94253	CCT		PASS	0.517	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131		13	30	13	30	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109818714	109818714	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:109818714G>A	ENST00000424296.2	-	38	5345	c.5269C>T	c.(5269-5271)Cgt>Tgt	p.R1757C	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1757					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R156C(1)|p.R1757C(1)									ATATATATACGATTATGATAT	0.299																																						uc003ptn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5269-5271)CGT>TGT		adenylate kinase domain containing 1 isoform 1							41.0	46.0	45.0					6																	109818714		2201	4299	6500	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109818714G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5269C>T	6.37:g.109818714G>A	ENSP00000410186:p.Arg1757Cys					AKD1_uc011eas.1_Missense_Mutation_p.R142C	p.R1757C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			38	5346	-			1757					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5269C>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.042638|2.042638	0.35989|0.35989	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000490722	T|.	0.64438|.	-0.1|.	5.05|5.05	3.21|3.21	0.36854|0.36854	.|.	0.444648|.	0.23960|.	N|.	0.042877|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.18968|.	0.017;0.032|.	B;B|.	0.12837|.	0.008;0.003|.	T|T	0.23368|0.23368	-1.0190|-1.0190	9|5	.|.	.|.	.|.	.|.	4.5485|4.5485	0.12092|0.12092	0.2353:0.0:0.5174:0.2473|0.2353:0.0:0.5174:0.2473	.|.	142;1757|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	C|L	1757|157	ENSP00000410186:R1757C|.	.|.	R|S	-|-	1|2	0|0	AKD1|AKD1	109925407|109925407	0.174000|0.174000	0.23070|0.23070	0.444000|0.444000	0.26895|0.26895	0.561000|0.561000	0.35649|0.35649	1.760000|1.760000	0.38430|0.38430	1.074000|1.074000	0.40909|0.40909	0.561000|0.561000	0.74099|0.74099	CGT|TCG		PASS	0.299	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		9	29	9	29	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112382351	112382351	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:112382351G>A	ENST00000368666.2	+	2	492	c.206G>A	c.(205-207)aGa>aAa	p.R69K	WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000230529.5_Missense_Mutation_p.R69K|WISP3_ENST00000361714.1_Missense_Mutation_p.R87K|WISP3_ENST00000604763.1_Missense_Mutation_p.R69K|WISP3_ENST00000368663.3_Missense_Mutation_p.R47K	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	69	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.R87K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGCCTGGTGAGAGATGGCTGT	0.532																																						uc003pvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)AGA>AAA		WNT1 inducible signaling pathway protein 3							147.0	135.0	139.0					6																	112382351		2203	4300	6503	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112382351G>A	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.206G>A	6.37:g.112382351G>A	ENSP00000357655:p.Arg69Lys					WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.R87K	p.R69K	NM_003880	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	3	316	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	69			IGFBP N-terminal.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.206G>A	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378858	0.11466	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.62	3.47	0.39725	Insulin-like growth factor-binding protein, IGFBP (3);	0.180584	0.48286	D	0.000189	T	0.09992	0.0245	N	0.11201	0.11	0.26165	N	0.97994	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.19582	-1.0301	10	0.12430	T	0.62	-5.7083	3.4194	0.07388	0.4033:0.0:0.5967:0.0	.	87;69	O95389-2;O95389	.;WISP3_HUMAN	K	69;69;87;69;47	ENSP00000357655:R69K;ENSP00000230529:R69K;ENSP00000354734:R87K;ENSP00000357652:R47K	ENSP00000230529:R69K	R	+	2	0	WISP3	112489044	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.613000	0.61176	2.254000	0.74563	0.563000	0.77884	AGA		PASS	0.532	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		19	52	19	52	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112453986	112453986	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:112453986G>A	ENST00000230538.7	-	28	4200	c.3803C>T	c.(3802-3804)cCa>cTa	p.P1268L	LAMA4_ENST00000424408.2_Missense_Mutation_p.P1261L|LAMA4_ENST00000389463.4_Missense_Mutation_p.P1261L|LAMA4_ENST00000522006.1_Missense_Mutation_p.P1261L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1268	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.P1261L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAACCCATTTGGTTGTAATGT	0.328																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3802-3804)CCA>CTA		laminin, alpha 4 isoform 1 precursor							91.0	93.0	92.0					6																	112453986		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112453986G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3803C>T	6.37:g.112453986G>A	ENSP00000230538:p.Pro1268Leu					LAMA4_uc003pvv.2_Missense_Mutation_p.P1261L|LAMA4_uc003pvt.2_Missense_Mutation_p.P1261L	p.P1268L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	28	4112	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1268			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3803C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	g	19.73	3.881704	0.72294	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.95	5.08	0.68730	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.046782	0.85682	D	0.000000	D	0.88160	0.6362	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90105	0.4187	10	0.66056	D	0.02	.	16.7725	0.85542	0.0:0.0:0.8697:0.1303	.	1268;1261	Q16363;Q16363-2	LAMA4_HUMAN;.	L	1268;1261;1261;1261	ENSP00000230538:P1268L;ENSP00000429488:P1261L;ENSP00000374114:P1261L;ENSP00000416470:P1261L	ENSP00000230538:P1268L	P	-	2	0	LAMA4	112560679	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	7.428000	0.80296	1.536000	0.49237	-0.216000	0.12614	CCA		PASS	0.328	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	37	17	37	---	---	---	---
HS3ST5	222537	broad.mit.edu	37	6	114378554	114378554	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:114378554T>C	ENST00000312719.5	-	5	2096	c.908A>G	c.(907-909)aAg>aGg	p.K303R	RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.K303R|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	303					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.K303T(1)|p.K303R(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGCCAGGCACTTATTAAAGAT	0.398																																						uc003pwg.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|pancreas(1)	2						c.(907-909)AAG>AGG		heparan sulfate (glucosamine)							61.0	66.0	64.0					6																	114378554		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378554T>C	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.908A>G	6.37:g.114378554T>C	ENSP00000427888:p.Lys303Arg					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.K303R	p.K303R	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	940	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	303			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.908A>G	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	T	3.806	-0.040639	0.07497	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.84146	-1.81;-1.81	5.9	5.9	0.94986	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	N	0.11724	0.165	0.49483	D	0.999795	P	0.36495	0.556	B	0.37833	0.259	T	0.68010	-0.5522	10	0.07990	T	0.79	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	303	Q8IZT8	HS3S5_HUMAN	R	303	ENSP00000427888:K303R;ENSP00000440332:K303R	ENSP00000427888:K303R	K	-	2	0	HS3ST5	114485247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.127000	0.64727	2.264000	0.75181	0.533000	0.62120	AAG		PASS	0.398	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		19	46	19	46	---	---	---	---
FAM26D	221301	broad.mit.edu	37	6	116879198	116879198	+	Missense_Mutation	SNP	G	G	T	rs151332485		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:116879198G>T	ENST00000368596.3	+	2	813	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W	FAM26D_ENST00000416171.2_Missense_Mutation_p.G113W|FAM26D_ENST00000368597.2_Missense_Mutation_p.G71W|FAM26D_ENST00000405399.1_Missense_Mutation_p.G114W			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	257					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.G71W(2)		endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		CTTCATTCCCGGGAGTGAAGA	0.473																																						uc003pxa.2																			2	Substitution - Missense(2)		lung(2)		0						c.(340-342)GGG>TGG		hypothetical protein LOC221301							135.0	136.0	136.0					6																	116879198		2203	4300	6503	SO:0001583	missense	221301					integral to membrane		g.chr6:116879198G>T	AK056801	CCDS5109.1, CCDS59032.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000164451	ENSG00000164451			21094	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 78"""	C6orf78			Standard	NM_153036		Approved	FLJ32239	uc010ked.4	Q5JW98	OTTHUMG00000015443	ENST00000368596.3:c.769G>T	6.37:g.116879198G>T	ENSP00000357585:p.Gly257Trp					FAM26D_uc003pwz.2_Missense_Mutation_p.G71W|FAM26D_uc010ked.2_Missense_Mutation_p.G113W	p.G114W	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)	4	639	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	257					B0QZ25|B0QZ27|B4DTQ0|Q96MK0	Missense_Mutation	SNP	ENST00000368596.3	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	G	15.34	2.805423	0.50315	.	.	ENSG00000164451	ENST00000416171;ENST00000368597;ENST00000452373;ENST00000405399;ENST00000368596	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000009	T	0.38506	0.1043	M	0.74258	2.255	0.50813	D	0.999893	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.09037	-1.0693	10	0.66056	D	0.02	-24.4023	19.4638	0.94931	0.0:0.0:1.0:0.0	.	113;257	B4DTQ0;Q5JW98	.;FA26D_HUMAN	W	113;71;71;114;257	ENSP00000416976:G113W;ENSP00000357586:G71W;ENSP00000409556:G71W;ENSP00000385836:G114W;ENSP00000357585:G257W	ENSP00000357585:G257W	G	+	1	0	FAM26D	116985891	1.000000	0.71417	0.420000	0.26596	0.057000	0.15508	6.071000	0.71229	2.847000	0.97988	0.655000	0.94253	GGG		PASS	0.473	FAM26D-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000041958.1	NM_153036		4	113	4	113	---	---	---	---
GPRC6A	222545	broad.mit.edu	37	6	117114012	117114012	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:117114012G>A	ENST00000310357.3	-	6	2095	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P621S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P517S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	692					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P692S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTAATTTGGGATCAAAGCTG	0.413																																						uc003pxj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2074-2076)CCC>TCC		G protein-coupled receptor, family C, group 6,							74.0	72.0	73.0					6																	117114012		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117114012G>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2074C>T	6.37:g.117114012G>A	ENSP00000309493:p.Pro692Ser					GPRC6A_uc003pxk.1_Missense_Mutation_p.P517S|GPRC6A_uc003pxl.1_Missense_Mutation_p.P621S	p.P692S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2096	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	692			Cytoplasmic (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2074C>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329283	0.24167	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87029	-2.2;-2.2;-2.2	4.46	4.46	0.54185	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000046	T	0.49830	0.1580	N	0.01242	-0.935	0.38631	D	0.951367	B;P;B	0.40619	0.066;0.724;0.294	B;B;B	0.34824	0.033;0.19;0.175	T	0.68273	-0.5452	10	0.08381	T	0.77	.	17.2954	0.87169	0.0:0.0:1.0:0.0	.	621;517;692	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	S	692;621;517	ENSP00000309493:P692S;ENSP00000357537:P621S;ENSP00000433465:P517S	ENSP00000309493:P692S	P	-	1	0	GPRC6A	117220705	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	6.099000	0.71466	2.312000	0.78011	0.591000	0.81541	CCC		PASS	0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			16	43	16	43	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117232185	117232186	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:117232185_117232186GG>AA	ENST00000332958.2	+	7	776_777	c.760_761GG>AA	c.(760-762)GGa>AAa	p.G254K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	254					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.G254K(1)|p.G254R(1)|p.G254E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTATACCAAGGATGCATTTCT	0.386																																						uc003pxm.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)|skin(1)	3						c.(760-762)GGA>AGA|c.(760-762)GGA>GAA		regulatory factor X, 6																																				SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117232185G>A|g.chr6:117232186G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	Exception_encountered	6.37:g.117232185_117232186delinsAA	ENSP00000332208:p.Gly254Lys						p.G254R|p.G254E	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			7	823|824	+			254					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.760G>A|c.761G>A	CCDS5113.1																																																																																				PASS	0.386	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		21	56|57	21	56	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117237248	117237248	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:117237248G>A	ENST00000332958.2	+	8	874	c.858G>A	c.(856-858)gaG>gaA	p.E286E	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	286					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.E286E(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTTTGAAGAGGTAAGAATGA	0.308																																						uc003pxm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(856-858)GAG>GAA		regulatory factor X, 6							111.0	110.0	110.0					6																	117237248		2203	4300	6503	SO:0001630	splice_region_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237248G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.858+1G>A	6.37:g.117237248G>A							p.E286E	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			8	921	+			286					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.858G>A	CCDS5113.1																																																																																				PASS	0.308	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	Silent	19	35	19	35	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117632191	117632191	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:117632191G>A	ENST00000368508.3	-	39	6423	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	ROS1_ENST00000368507.3_Silent_p.F2069F	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2075	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F2075F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCTGTGAATGAAATGCATCC	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6223-6225)TTC>TTT		proto-oncogene c-ros-1 protein precursor							127.0	120.0	122.0					6																	117632191		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117632191G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6225C>T	6.37:g.117632191G>A						ROS1_uc011ebi.1_RNA	p.F2075F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	39	6424	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2075			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.6225C>T	CCDS5116.1																																																																																				PASS	0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			22	32	22	32	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117663580	117663580	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:117663580C>T	ENST00000368508.3	-	28	4850	c.4652G>A	c.(4651-4653)gGa>gAa	p.G1551E	ROS1_ENST00000368507.3_Missense_Mutation_p.G1545E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1551	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G1551E(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTAGTTTTTCCCCAAATCTC	0.313			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(4651-4653)GGA>GAA		proto-oncogene c-ros-1 protein precursor							126.0	135.0	132.0					6																	117663580		2202	4300	6502	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117663580C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4652G>A	6.37:g.117663580C>T	ENSP00000357494:p.Gly1551Glu					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.G1551E	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	28	4851	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1551			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4652G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073493	0.55646	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53640	0.61;0.61	5.32	5.32	0.75619	.	0.094278	0.46758	D	0.000280	T	0.44746	0.1308	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.24941	-1.0146	10	0.30854	T	0.27	.	14.8443	0.70249	0.0:1.0:0.0:0.0	.	1551	P08922	ROS1_HUMAN	E	1551;1545	ENSP00000357494:G1551E;ENSP00000357493:G1545E	ENSP00000357493:G1545E	G	-	2	0	ROS1	117770273	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	2.369000	0.44231	2.655000	0.90218	0.561000	0.74099	GGA		PASS	0.313	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			11	38	11	38	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119338100	119338100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:119338100C>T	ENST00000338891.7	-	5	1785	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E328K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E328K|FAM184A_ENST00000522284.1_Missense_Mutation_p.E328K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E448K|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	448						extracellular space (GO:0005615)		p.E448K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTCTTTGCTTCATTTACTTTC	0.333																																						uc003pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1342-1344)GAA>AAA		hypothetical protein LOC79632 isoform 1							75.0	71.0	72.0					6																	119338100		1800	4065	5865	SO:0001583	missense	79632							g.chr6:119338100C>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1342G>A	6.37:g.119338100C>T	ENSP00000342604:p.Glu448Lys					FAM184A_uc003pyk.3_Missense_Mutation_p.E328K|FAM184A_uc003pyl.3_Missense_Mutation_p.E328K	p.E448K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			5	1690	-			448			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.1342G>A	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.343208|4.343208	0.82022|0.82022	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.052144|.	0.64402|.	D|.	0.000001|.	T|T	0.67795|0.67795	0.2931|0.2931	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;B;P|.	0.44044|.	0.787;0.449;0.825|.	B;B;B|.	0.41510|.	0.359;0.154;0.321|.	T|T	0.67348|0.67348	-0.5693|-0.5693	10|5	0.16420|.	T|.	0.52|.	-7.9209|-7.9209	18.1577|18.1577	0.89699|0.89699	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	448;328;448|.	Q8NB25-2;F8W8D6;Q8NB25|.	.;.;F184A_HUMAN|.	K|I	448;328;328;448;328|33	ENSP00000342604:E448K;ENSP00000326608:E328K;ENSP00000357460:E328K;ENSP00000430442:E448K;ENSP00000429826:E328K|.	ENSP00000342604:E448K|.	E|M	-|-	1|3	0|0	FAM184A|FAM184A	119379799|119379799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	6.341000|6.341000	0.72977|0.72977	2.315000|2.315000	0.78130|0.78130	0.491000|0.491000	0.48974|0.48974	GAA|ATG		PASS	0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		5	22	5	22	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121577360	121577360	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:121577360C>T	ENST00000398212.2	-	16	1854	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G602E	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	602					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.G602E(1)									CATTTCTGATCCAGAAAATAT	0.348																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1804-1806)GGA>GAA		hypothetical protein LOC221322							69.0	63.0	65.0					6																	121577360		1814	4076	5890	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121577360C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1805G>A	6.37:g.121577360C>T	ENSP00000381270:p.Gly602Glu					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.G121E	p.G602E	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	16	1873	-			602					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1805G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867401	0.51588	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19250	2.16;2.16	5.06	5.06	0.68205	.	0.070853	0.64402	D	0.000020	T	0.28001	0.0690	L	0.55103	1.725	0.41718	D	0.989499	D;P	0.89917	1.0;0.751	D;B	0.97110	1.0;0.212	T	0.01290	-1.1394	10	0.27785	T	0.31	-11.3389	12.194	0.54286	0.0:0.9208:0.0:0.0792	.	602;602	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	E	602	ENSP00000275159:G602E;ENSP00000381270:G602E	ENSP00000275159:G602E	G	-	2	0	C6orf170	121619059	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	3.359000	0.52292	2.499000	0.84300	0.655000	0.94253	GGA		PASS	0.348	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		14	24	14	24	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127794487	127794487	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:127794487G>A	ENST00000525778.1	-	7	3528	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	SOGA3_ENST00000368268.2_Missense_Mutation_p.S928L|SOGA3_ENST00000556132.1_Missense_Mutation_p.S928L|SOGA3_ENST00000474293.2_Intron|SOGA3_ENST00000481848.2_Missense_Mutation_p.S928L|SOGA3_ENST00000465909.2_Missense_Mutation_p.S925L			Q5TF21	SOGA3_HUMAN	SOGA family member 3	928					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S928L(1)									GTAAGAAAGTGATGAAAATAA	0.274																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2782-2784)TCA>TTA		hypothetical protein LOC387104 precursor							70.0	71.0	71.0					6																	127794487		1806	4062	5868	SO:0001583	missense	387104					integral to membrane		g.chr6:127794487G>A	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.2783C>T	6.37:g.127794487G>A	ENSP00000434570:p.Ser928Leu					C6orf174_uc003qbc.2_5'UTR	p.S928L	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	7	3648	-			928			Helical; (Potential).			Missense_Mutation	SNP	ENST00000525778.1	37	c.2783C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455640	0.96223	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.44083	0.94;0.94;0.94;0.93	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.57670	-0.7771	10	0.87932	D	0	-5.6044	19.6555	0.95837	0.0:0.0:1.0:0.0	.	928	Q5TF21	CF174_HUMAN	L	928;928;928;925	ENSP00000451768:S928L;ENSP00000357251:S928L;ENSP00000434570:S928L;ENSP00000435559:S925L	ENSP00000435559:S925L	S	-	2	0	C6orf174	127836180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.725000	0.93324	0.655000	0.94253	TCA		PASS	0.274	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	20	7	20	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134147	128134147	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:128134147C>T	ENST00000368248.2	-	4	1787	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	THEMIS_ENST00000537166.1_Missense_Mutation_p.E512K|THEMIS_ENST00000368250.1_Missense_Mutation_p.E468K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E547K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	547					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E547K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGAGCTTTCATATCTCCGC	0.458																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1639-1641)GAA>AAA		thymocyte selection pathway associated isoform							107.0	107.0	107.0					6																	128134147		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134147C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1639G>A	6.37:g.128134147C>T	ENSP00000357231:p.Glu547Lys					THEMIS_uc010kfa.2_Missense_Mutation_p.E450K|THEMIS_uc011ebt.1_Missense_Mutation_p.E547K|THEMIS_uc010kfb.2_Missense_Mutation_p.E512K	p.E547K	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1958	-			547					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1639G>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734192	0.69189	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.19250	2.16;2.19;2.17;2.16	5.9	5.03	0.67393	.	0.125191	0.53938	N	0.000043	T	0.33030	0.0849	M	0.63843	1.955	0.40434	D	0.979978	D;B	0.89917	1.0;0.379	D;B	0.85130	0.997;0.07	T	0.10474	-1.0628	10	0.48119	T	0.1	-14.4285	14.7952	0.69873	0.0:0.9312:0.0:0.0688	.	547;547	F5H1J9;Q8N1K5	.;THMS1_HUMAN	K	468;547;547;512	ENSP00000357233:E468K;ENSP00000439594:E547K;ENSP00000357231:E547K;ENSP00000439863:E512K	ENSP00000357231:E547K	E	-	1	0	THEMIS	128175840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.592000	0.61027	1.492000	0.48499	0.563000	0.77884	GAA		PASS	0.458	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		19	38	19	38	---	---	---	---
TMEM244	253582	broad.mit.edu	37	6	130152517	130152517	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:130152517G>A	ENST00000368143.1	-	5	416	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	TMEM244_ENST00000438392.1_Missense_Mutation_p.P112S	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	112						integral component of membrane (GO:0016021)		p.P112S(3)									GATGTCAAGGGGAATTCCAAC	0.299																																						uc003qbs.2																			3	Substitution - Missense(3)		lung(2)|skin(1)	large_intestine(1)	1						c.(334-336)CCC>TCC		hypothetical protein LOC253582							65.0	63.0	64.0					6																	130152517		2202	4300	6502	SO:0001583	missense	253582					integral to membrane		g.chr6:130152517G>A		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 191"""	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.334C>T	6.37:g.130152517G>A	ENSP00000357125:p.Pro112Ser						p.P112S	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)	5	417	-			112			Helical; (Potential).			Missense_Mutation	SNP	ENST00000368143.1	37	c.334C>T	CCDS34536.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686491	0.68157	.	.	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.36699	1.24;1.24	4.5	4.5	0.54988	.	0.077194	0.52532	U	0.000064	T	0.48714	0.1515	L	0.58101	1.795	0.38750	D	0.954088	D	0.76494	0.999	D	0.76575	0.988	T	0.54906	-0.8223	10	0.87932	D	0	-22.4302	16.333	0.83050	0.0:0.0:1.0:0.0	.	112	Q5VVB8	CF191_HUMAN	S	112	ENSP00000357125:P112S;ENSP00000403755:P112S	ENSP00000357125:P112S	P	-	1	0	C6orf191	130194210	1.000000	0.71417	0.906000	0.35671	0.866000	0.49608	2.226000	0.42963	2.211000	0.71520	0.557000	0.71058	CCC		PASS	0.299	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042194.1	NM_001010876		9	25	9	25	---	---	---	---
AKAP7	9465	broad.mit.edu	37	6	131481248	131481248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:131481248G>A	ENST00000431975.2	+	3	299	c.201G>A	c.(199-201)tgG>tgA	p.W67*	AKAP7_ENST00000368123.4_Nonsense_Mutation_p.W45*|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.W66*|AKAP7_ENST00000366358.2_3'UTR	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	67						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.W45*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AAAATGAATGGGTCAAGAGTG	0.318																																						uc003qck.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(199-201)TGG>TGA		A-kinase anchor protein 7 isoform gamma							53.0	52.0	52.0					6																	131481248		2203	4295	6498	SO:0001587	stop_gained	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131481248G>A	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.201G>A	6.37:g.131481248G>A	ENSP00000405252:p.Trp67*					AKAP7_uc011ebz.1_Nonsense_Mutation_p.W45*	p.W67*	NM_016377	NP_057461	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	3	234	+	Breast(56;0.152)		Error:Variant_position_missing_in_O43687_after_alignment					B4DUC3|Q9HCZ8	Nonsense_Mutation	SNP	ENST00000431975.2	37	c.201G>A	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279896	0.23392	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	.	.	.	5.18	-10.4	0.00318	.	3.038000	0.00633	N	0.000487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.0151	1.8943	0.03254	0.1847:0.3526:0.1378:0.3248	.	.	.	.	X	67;66;45	.	ENSP00000357105:W45X	W	+	3	0	AKAP7	131522941	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-3.008000	0.00649	-3.787000	0.00107	-0.355000	0.07637	TGG		PASS	0.318	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		15	30	15	30	---	---	---	---
ARG1	383	broad.mit.edu	37	6	131904928	131904928	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:131904928G>A	ENST00000368087.3	+	8	988	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ARG1_ENST00000356962.2_Silent_p.G291G|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	283					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.G283G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	CATCCCTGGGGAAGACACCAG	0.398																																						uc003qcp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(847-849)GGG>GGA		arginase 1	L-Ornithine(DB00129)						124.0	109.0	114.0					6																	131904928		2203	4300	6503	SO:0001819	synonymous_variant	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904928G>A		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.849G>A	6.37:g.131904928G>A						ARG1_uc003qco.1_Intron|ARG1_uc010kfm.1_Silent_p.G291G|MED23_uc003qcq.2_Intron	p.G283G	NM_000045	NP_000036	P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	8	907	+	Breast(56;0.0753)		283					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Silent	SNP	ENST00000368087.3	37	c.849G>A	CCDS5145.1																																																																																				PASS	0.398	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			11	27	11	27	---	---	---	---
CTGF	1490	broad.mit.edu	37	6	132271549	132271549	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:132271549G>A	ENST00000367976.3	-	3	624	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	142	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)	p.R142C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTGGGCAGACGAACGTCCATG	0.652											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(127;510 1660 12817 24400 38449)	uc003qcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)CGT>TGT		connective tissue growth factor precursor							67.0	63.0	65.0					6																	132271549		2203	4300	6503	SO:0001583	missense	1490				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	g.chr6:132271549G>A	X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.424C>T	6.37:g.132271549G>A	ENSP00000356954:p.Arg142Cys		OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1594		p.R142C	NM_001901	NP_001892	P29279	CTGF_HUMAN		GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)	3	630	-	Breast(56;0.0602)		142			VWFC.		E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Missense_Mutation	SNP	ENST00000367976.3	37	c.424C>T	CCDS5151.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975075	0.74360	.	.	ENSG00000118523	ENST00000367976	T	0.79845	-1.31	5.48	3.63	0.41609	von Willebrand factor, type C (4);	0.109676	0.64402	D	0.000008	D	0.84365	0.5456	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.85227	0.1030	10	0.51188	T	0.08	.	15.7037	0.77560	0.0:0.2595:0.7405:0.0	.	142	P29279	CTGF_HUMAN	C	142	ENSP00000356954:R142C	ENSP00000356954:R142C	R	-	1	0	CTGF	132313242	1.000000	0.71417	0.759000	0.31340	0.989000	0.77384	6.085000	0.71343	0.627000	0.30340	0.561000	0.74099	CGT		PASS	0.652	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042239.2	NM_001901		12	29	12	29	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891844	132891844	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:132891844C>T	ENST00000275198.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	128					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I128I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCATCTCCATCGACAGGTACA	0.483																																						uc011eck.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(382-384)ATC>ATT		trace amine associated receptor 6							296.0	274.0	282.0					6																	132891844		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891844C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.384C>T	6.37:g.132891844C>T							p.I128I	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	384	+	Breast(56;0.112)		128			Helical; Name=3; (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.384C>T	CCDS5155.1																																																																																				PASS	0.483	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		65	136	65	136	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891934	132891934	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:132891934C>T	ENST00000275198.1	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	158					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.I158I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTCCTGGATCCTGCCCCTCA	0.502																																						uc011eck.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(472-474)ATC>ATT		trace amine associated receptor 6							236.0	234.0	235.0					6																	132891934		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891934C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.474C>T	6.37:g.132891934C>T							p.I158I	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	474	+	Breast(56;0.112)		158			Helical; Name=4; (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.474C>T	CCDS5155.1																																																																																				PASS	0.502	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		49	120	49	120	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133849888	133849888	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:133849888C>T	ENST00000367895.5	+	20	2329	c.1865C>T	c.(1864-1866)tCc>tTc	p.S622F	EYA4_ENST00000452339.2_Missense_Mutation_p.S568F|EYA4_ENST00000525849.1_Missense_Mutation_p.S599F|EYA4_ENST00000355286.6_Missense_Mutation_p.S599F|EYA4_ENST00000431403.2_Missense_Mutation_p.S622F|EYA4_ENST00000531901.1_Missense_Mutation_p.S628F|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355167.3_Missense_Mutation_p.S622F|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	622					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.S622F(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGGAGGATATCCAGTCACTCA	0.468																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1864-1866)TCC>TTC		eyes absent 4 isoform a							302.0	278.0	286.0					6																	133849888		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133849888C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1865C>T	6.37:g.133849888C>T	ENSP00000356870:p.Ser622Phe					EYA4_uc011ecq.1_Missense_Mutation_p.S568F|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.S622F|EYA4_uc003qee.3_Missense_Mutation_p.S599F|EYA4_uc011ecs.1_Missense_Mutation_p.S628F|uc003qeg.1_Intron	p.S622F	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	20	2323	+	Colorectal(23;0.221)		622					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1865C>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321315	0.81580	.	.	ENSG00000112319	ENST00000452339;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	6.07	6.07	0.98685	EYA (1);	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;0.996	D;D;D;D;D	0.70716	0.963;0.97;0.97;0.954;0.963	D	0.95643	0.8700	10	0.87932	D	0	-17.0342	20.6593	0.99626	0.0:1.0:0.0:0.0	.	628;568;599;622;622	F2Z2Y1;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;EYA4_HUMAN	F	568;622;622;599;628;599;622	ENSP00000395916:S568F;ENSP00000356870:S622F;ENSP00000347294:S622F;ENSP00000347434:S599F;ENSP00000432770:S628F;ENSP00000433219:S599F;ENSP00000404558:S622F	ENSP00000347294:S622F	S	+	2	0	EYA4	133891581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.885000	0.99019	0.655000	0.94253	TCC		PASS	0.468	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		49	149	49	149	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136582572	136582572	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:136582572C>T	ENST00000531224.1	-	12	2840	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	BCLAF1_ENST00000031135.9_Missense_Mutation_p.G81E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G812E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G814E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G690E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G861E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G812E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	863					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G863E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGACCTCTTCCTCTTTTGGC	0.408																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2587-2589)GGA>GAA		BCL2-associated transcription factor 1 isoform							199.0	199.0	199.0					6																	136582572		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582572C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2588G>A	6.37:g.136582572C>T	ENSP00000435210:p.Gly863Glu					BCLAF1_uc011edb.1_Missense_Mutation_p.G142E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G690E|BCLAF1_uc003qgy.1_Missense_Mutation_p.G812E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G861E	p.G863E	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2841	-	Colorectal(23;0.24)		863					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2588G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144866	0.77888	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.56776	2.11;1.64;1.64;1.92;2.11;0.44;1.64	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000006	T	0.66167	0.2762	L	0.60455	1.87	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.998	T	0.68625	-0.5359	10	0.87932	D	0	-18.0574	19.3961	0.94607	0.0:1.0:0.0:0.0	.	861;142;812;863;690	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	E	863;812;814;690;861;81;812	ENSP00000435210:G863E;ENSP00000229446:G812E;ENSP00000435441:G814E;ENSP00000436501:G690E;ENSP00000434826:G861E;ENSP00000031135:G81E;ENSP00000376159:G812E	ENSP00000031135:G81E	G	-	2	0	BCLAF1	136624265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.412000	0.73303	2.581000	0.87130	0.655000	0.94253	GGA		PASS	0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	157	14	157	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599155	136599155	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:136599155C>T	ENST00000531224.1	-	4	1116	c.864G>A	c.(862-864)caG>caA	p.Q288Q	BCLAF1_ENST00000353331.4_Silent_p.Q286Q|BCLAF1_ENST00000527536.1_Silent_p.Q288Q|BCLAF1_ENST00000530767.1_Silent_p.Q288Q|BCLAF1_ENST00000527759.1_Silent_p.Q286Q|BCLAF1_ENST00000392348.2_Silent_p.Q286Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	288					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q288Q(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTGGACTATTCTGAGAAGGAC	0.453																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(862-864)CAG>CAA		BCL2-associated transcription factor 1 isoform							98.0	86.0	90.0					6																	136599155		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599155C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.864G>A	6.37:g.136599155C>T						BCLAF1_uc003qgw.1_Silent_p.Q288Q|BCLAF1_uc003qgy.1_Silent_p.Q286Q|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.Q286Q	p.Q288Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1117	-	Colorectal(23;0.24)		288					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.864G>A	CCDS5177.1																																																																																				PASS	0.453	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		15	43	15	43	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599223	136599223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:136599223G>A	ENST00000531224.1	-	4	1048	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.Q266*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.Q266*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.Q264*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.Q264*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	266					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q266*(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGACTATGCTGAATGGAATGT	0.448																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			2	Substitution - Nonsense(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(796-798)CAG>TAG		BCL2-associated transcription factor 1 isoform							116.0	109.0	111.0					6																	136599223		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599223G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.796C>T	6.37:g.136599223G>A	ENSP00000435210:p.Gln266*					BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q266*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q264*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q264*	p.Q266*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1049	-	Colorectal(23;0.24)		266					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.796C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054975	0.93793	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-9.033	15.569	0.76320	0.0:0.1372:0.8628:0.0	.	.	.	.	X	266;264;266;266;264;264;266	.	ENSP00000229446:Q264X	Q	-	1	0	BCLAF1	136640916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.235000	0.65348	2.754000	0.94517	0.650000	0.86243	CAG		PASS	0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		7	64	7	64	---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136710541	136710541	+	Missense_Mutation	SNP	C	C	T	rs376901368		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:136710541C>T	ENST00000354570.3	-	4	769	c.359G>A	c.(358-360)aGg>aAg	p.R120K	MAP7_ENST00000454590.1_Missense_Mutation_p.R142K|MAP7_ENST00000544465.1_Missense_Mutation_p.R105K|MAP7_ENST00000438100.2_Missense_Mutation_p.R142K|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	120					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R120K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGCAGCCCTCCTCCGCTCCTC	0.582																																						uc003qgz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)AGG>AAG		microtubule-associated protein 7							131.0	125.0	127.0					6																	136710541		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710541C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.359G>A	6.37:g.136710541C>T	ENSP00000346581:p.Arg120Lys					MAP7_uc011edf.1_Missense_Mutation_p.R105K|MAP7_uc011edg.1_Missense_Mutation_p.R142K|MAP7_uc010kgu.2_Missense_Mutation_p.R142K|MAP7_uc011edh.1_Missense_Mutation_p.R142K|MAP7_uc010kgv.2_Missense_Mutation_p.R142K|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Intron|MAP7_uc003qha.1_Missense_Mutation_p.R120K|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R142K	p.R120K	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	605	-	Colorectal(23;0.24)		120			Potential.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.359G>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882447	0.72294	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000018	T	0.03564	0.0102	L	0.53617	1.68	0.80722	D	1	P;P;P;P;P;P;P	0.46784	0.816;0.816;0.884;0.816;0.615;0.884;0.816	B;B;P;B;B;P;B	0.50270	0.432;0.432;0.636;0.432;0.1;0.636;0.432	T	0.59380	-0.7465	10	0.33940	T	0.23	-14.5068	19.6664	0.95894	0.0:1.0:0.0:0.0	.	142;142;105;142;142;120;120	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	K	120;142;105;142	ENSP00000346581:R120K;ENSP00000414712:R142K;ENSP00000445737:R105K;ENSP00000400790:R142K	ENSP00000346581:R120K	R	-	2	0	MAP7	136752234	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.688000	0.68227	2.654000	0.90174	0.557000	0.71058	AGG		PASS	0.582	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		36	75	36	75	---	---	---	---
SLC35D3	340146	broad.mit.edu	37	6	137245608	137245608	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:137245608G>A	ENST00000331858.4	+	2	1190	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	342					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.G342E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGGGAGGGAGGAAATGGCCGG	0.687																																						uc003qhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1024-1026)GGA>GAA		solute carrier family 35, member D3							32.0	33.0	33.0					6																	137245608		2203	4300	6503	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245608G>A		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1025G>A	6.37:g.137245608G>A	ENSP00000333591:p.Gly342Glu						p.G342E	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1190	+	Colorectal(23;0.24)		342					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.1025G>A	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	6.924	0.540242	0.13250	.	.	ENSG00000182747	ENST00000331858	T	0.56611	0.45	6.06	5.18	0.71444	.	0.146432	0.45126	D	0.000385	T	0.17238	0.0414	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05818	-1.0862	10	0.41790	T	0.15	-7.2402	6.5916	0.22649	0.068:0.1311:0.6647:0.1362	.	342	Q5M8T2	S35D3_HUMAN	E	342	ENSP00000333591:G342E	ENSP00000333591:G342E	G	+	2	0	SLC35D3	137287301	0.866000	0.29940	0.074000	0.20217	0.254000	0.26022	1.400000	0.34577	1.544000	0.49359	0.655000	0.94253	GGA		PASS	0.687	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		13	11	13	11	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519347	137519347	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:137519347G>A	ENST00000367739.4	-	7	1412	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P403S	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	431					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.P431S(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTATTTGGGGGAAATTCTGAG	0.398																																						uc003qho.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1291-1293)CCC>TCC		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						95.0	99.0	98.0					6																	137519347		2203	4299	6502	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519347G>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1291C>T	6.37:g.137519347G>A	ENSP00000356713:p.Pro431Ser					IFNGR1_uc011edm.1_Missense_Mutation_p.P403S	p.P431S	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1394	-	Colorectal(23;0.24)		431			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.1291C>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077500	0.36662	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.73258	-0.73;-0.56	5.21	0.172	0.15031	.	1.484300	0.04963	U	0.462433	T	0.58821	0.2149	L	0.31926	0.97	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.915	T	0.48670	-0.9015	10	0.62326	D	0.03	-0.1655	3.317	0.07036	0.2566:0.0:0.4333:0.3102	.	403;431	F5H5M7;P15260	.;INGR1_HUMAN	S	431;403	ENSP00000356713:P431S;ENSP00000443282:P403S	ENSP00000356713:P431S	P	-	1	0	IFNGR1	137561040	0.008000	0.16893	0.000000	0.03702	0.200000	0.23975	0.370000	0.20433	-0.076000	0.12775	0.655000	0.94253	CCC		PASS	0.398	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			10	28	10	28	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138199982	138199982	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:138199982C>A	ENST00000237289.4	+	7	1466	c.1400C>A	c.(1399-1401)cCt>cAt	p.P467H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	467	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.P450fs*21(1)|p.P467H(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCACCCAGCCCTTTTCTGTTC	0.617			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		27	Whole gene deletion(25)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.0?(22)|p.P450fs*21(1)	haematopoietic_and_lymphoid_tissue(26)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(1399-1401)CCT>CAT		tumor necrosis factor, alpha-induced protein 3							27.0	29.0	28.0					6																	138199982		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138199982C>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1400C>A	6.37:g.138199982C>A	ENSP00000237289:p.Pro467His					TNFAIP3_uc003qhs.2_Missense_Mutation_p.P467H	p.P467H	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1466	+	Breast(32;0.135)|Colorectal(23;0.24)		467			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1400C>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103605	0.37145	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.21734	1.99	5.53	4.38	0.52667	.	0.131134	0.50627	D	0.000113	T	0.03827	0.0108	N	0.08118	0	0.28069	N	0.932678	B	0.15473	0.013	B	0.06405	0.002	T	0.30268	-0.9984	10	0.62326	D	0.03	-16.2575	9.4171	0.38528	0.0:0.0823:0.0:0.9177	.	467	P21580	TNAP3_HUMAN	H	467	ENSP00000237289:P467H	ENSP00000237289:P467H	P	+	2	0	TNFAIP3	138241675	1.000000	0.71417	0.954000	0.39281	0.682000	0.39822	5.484000	0.66844	0.930000	0.37217	-0.302000	0.09304	CCT		PASS	0.617	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			5	10	5	10	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139094850	139094850	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:139094850G>A	ENST00000332797.6	+	1	194	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	13								p.Q13Q(1)|p.Q13H(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGGGGGAGCAGGAAAAGGCGG	0.612																																						uc003qie.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|autonomic_ganglia(1)		0						c.(37-39)CAG>CAA		coiled-coil domain containing 28A							85.0	100.0	95.0					6																	139094850		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139094850G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.39G>A	6.37:g.139094850G>A						uc003qid.1_5'Flank	p.Q13Q	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	194	+			13					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.39G>A	CCDS5192.1																																																																																				PASS	0.612	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		19	44	19	44	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139094873	139094873	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:139094873G>A	ENST00000332797.6	+	1	217	c.62G>A	c.(61-63)gGg>gAg	p.G21E		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	21								p.G21E(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CTTCCGCTTGGGGCATGGAGG	0.622																																						uc003qie.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GGG>GAG		coiled-coil domain containing 28A							87.0	101.0	97.0					6																	139094873		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139094873G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.62G>A	6.37:g.139094873G>A	ENSP00000332716:p.Gly21Glu					uc003qid.1_5'Flank	p.G21E	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	217	+			21					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.62G>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228409	0.39399	.	.	ENSG00000024862	ENST00000332797	T	0.24151	1.87	5.35	-2.32	0.06745	.	3.509430	0.01608	N	0.022392	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.25779	-1.0122	10	0.34782	T	0.22	0.3757	1.4188	0.02307	0.3004:0.2998:0.2765:0.1233	.	21	Q8IWP9	CC28A_HUMAN	E	21	ENSP00000332716:G21E	ENSP00000332716:G21E	G	+	2	0	CCDC28A	139136566	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.264000	0.08658	-0.384000	0.07845	0.655000	0.94253	GGG		PASS	0.622	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		21	52	21	52	---	---	---	---
STX11	8676	broad.mit.edu	37	6	144508350	144508350	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:144508350G>A	ENST00000367568.4	+	2	769	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	196					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.D196N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CTTGCTGGCCGACGTGAAGGG	0.637									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(586-588)GAC>AAC		syntaxin 11							42.0	49.0	47.0					6																	144508350		2203	4300	6503	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508350G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.586G>A	6.37:g.144508350G>A	ENSP00000356540:p.Asp196Asn						p.D196N	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	778	+			196					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.586G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404984	0.96051	.	.	ENSG00000135604	ENST00000367568	T	0.21734	1.99	5.18	5.18	0.71444	t-SNARE (1);	0.051520	0.85682	D	0.000000	T	0.23451	0.0567	M	0.83774	2.66	0.80722	D	1	P	0.52463	0.953	B	0.41988	0.372	T	0.31475	-0.9942	10	0.72032	D	0.01	-27.99	18.321	0.90238	0.0:0.0:1.0:0.0	.	196	O75558	STX11_HUMAN	N	196	ENSP00000356540:D196N	ENSP00000356540:D196N	D	+	1	0	STX11	144550043	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.799000	0.99117	2.413000	0.81919	0.655000	0.94253	GAC		PASS	0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			11	14	11	14	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145157481	145157481	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:145157481G>A	ENST00000367545.3	+	70	9869	c.9869G>A	c.(9868-9870)cGa>cAa	p.R3290Q	UTRN_ENST00000367526.4_Missense_Mutation_p.R845Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3290					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R3290Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGCACCTCCGAAGGGGGCTC	0.498																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9868-9870)CGA>CAA		utrophin							112.0	121.0	118.0					6																	145157481		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157481G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9869G>A	6.37:g.145157481G>A	ENSP00000356515:p.Arg3290Gln						p.R3290Q	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9961	+		Ovarian(120;0.218)	3290					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9869G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494889	0.26774	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.55930	0.49;3.74	5.91	2.45	0.29901	.	0.244102	0.28630	N	0.014674	T	0.10937	0.0267	N	0.12182	0.205	0.25642	N	0.986197	B	0.14438	0.01	B	0.09377	0.004	T	0.33675	-0.9859	10	0.08381	T	0.77	.	10.2621	0.43434	0.2714:0.0:0.7286:0.0	.	3290	P46939	UTRO_HUMAN	Q	3290;845	ENSP00000356515:R3290Q;ENSP00000356496:R845Q	ENSP00000356496:R845Q	R	+	2	0	UTRN	145199174	1.000000	0.71417	0.837000	0.33122	0.787000	0.44495	3.371000	0.52379	0.784000	0.33661	0.655000	0.94253	CGA		PASS	0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			54	83	54	83	---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146125854	146125854	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:146125854G>A	ENST00000237281.4	-	2	1854	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	563							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T563I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CTGAGAATAGGTACAACCATA	0.413																																						uc003qla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1687-1689)ACC>ATC		F-box only protein 30							107.0	97.0	100.0					6																	146125854		2203	4299	6502	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146125854G>A	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1688C>T	6.37:g.146125854G>A	ENSP00000237281:p.Thr563Ile					uc003qky.1_Intron	p.T563I	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1887	-		Ovarian(120;0.0776)	563					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1688C>T	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805875	0.70682	.	.	ENSG00000118496	ENST00000237281	T	0.21191	2.02	5.92	5.92	0.95590	.	0.087839	0.85682	D	0.000000	T	0.42653	0.1212	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.28996	-1.0026	10	0.87932	D	0	-0.8422	20.3081	0.98638	0.0:0.0:1.0:0.0	.	563	Q8TB52	FBX30_HUMAN	I	563	ENSP00000237281:T563I	ENSP00000237281:T563I	T	-	2	0	FBXO30	146167547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.655000	0.94253	ACC		PASS	0.413	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			16	49	16	49	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264545	146264545	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:146264545G>T	ENST00000367505.2	-	9	2236	c.1972C>A	c.(1972-1974)Cgc>Agc	p.R658S	SHPRH_ENST00000367503.3_Missense_Mutation_p.R658S|SHPRH_ENST00000438092.2_Missense_Mutation_p.R658S|SHPRH_ENST00000275233.7_Missense_Mutation_p.R658S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R658S(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACTCAAAGCGGTAATCAGAG	0.423																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1972-1974)CGC>AGC		SNF2 histone linker PHD RING helicase isoform a							135.0	126.0	129.0					6																	146264545		1961	4157	6118	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264545G>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1972C>A	6.37:g.146264545G>T	ENSP00000356475:p.Arg658Ser					SHPRH_uc003qld.2_Missense_Mutation_p.R658S|SHPRH_uc003qle.2_Missense_Mutation_p.R658S|SHPRH_uc003qlg.1_Missense_Mutation_p.R214S|SHPRH_uc003qlj.1_Missense_Mutation_p.R547S	p.R658S	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2371	-		Ovarian(120;0.0365)	658			PHD-type.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1972C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	32	5.143229	0.94560	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);DEAD-like helicase (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.97110	0.846;0.999;0.999;1.0	T	0.78540	-0.2165	10	0.72032	D	0.01	-11.8663	19.6765	0.95936	0.0:0.0:1.0:0.0	.	547;658;658;547	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	S	658;658;658;658;547	ENSP00000356475:R658S;ENSP00000356473:R658S;ENSP00000412797:R658S;ENSP00000275233:R658S	ENSP00000275233:R658S	R	-	1	0	SHPRH	146306238	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	7.484000	0.81180	2.740000	0.93945	0.650000	0.86243	CGC		PASS	0.423	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		5	95	5	95	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720028	146720028	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:146720028G>T	ENST00000282753.1	+	7	2088	c.1853G>T	c.(1852-1854)cGg>cTg	p.R618L	GRM1_ENST00000355289.4_Missense_Mutation_p.R618L|GRM1_ENST00000492807.2_Missense_Mutation_p.R618L|GRM1_ENST00000361719.2_Missense_Mutation_p.R618L|GRM1_ENST00000392299.2_Missense_Mutation_p.R618L|GRM1_ENST00000507907.1_Missense_Mutation_p.R618L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	618					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R618L(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTACTGTACCGGGACACACCA	0.473																																						uc010khw.1																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1852-1854)CGG>CTG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						267.0	221.0	237.0					6																	146720028		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720028G>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1853G>T	6.37:g.146720028G>T	ENSP00000282753:p.Arg618Leu					GRM1_uc010khv.1_Missense_Mutation_p.R618L|GRM1_uc003qll.2_Missense_Mutation_p.R618L|GRM1_uc011edz.1_Missense_Mutation_p.R618L|GRM1_uc011eea.1_Missense_Mutation_p.R618L	p.R618L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2323	+		Ovarian(120;0.0387)	618			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1853G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210886	0.79240	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.81	5.81	0.92471	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	L	0.58428	1.81	0.80722	D	1	P;D;P	0.60575	0.611;0.988;0.745	B;P;B	0.55455	0.428;0.776;0.246	D	0.90993	0.4836	10	0.66056	D	0.02	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	618;618;618	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	L	618	ENSP00000354896:R618L;ENSP00000376119:R618L;ENSP00000424095:R618L;ENSP00000282753:R618L;ENSP00000347437:R618L;ENSP00000425599:R618L	ENSP00000282753:R618L	R	+	2	0	GRM1	146761721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	CGG		PASS	0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	141	5	141	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	149983369	149983369	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:149983369G>A	ENST00000543571.1	-	8	3436	c.2889C>T	c.(2887-2889)atC>atT	p.I963I	LATS1_ENST00000253339.5_Silent_p.I963I	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.I963I(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTGCCAGTTGATAACCTTTA	0.348																																						uc003qmu.1																			2	Substitution - coding silent(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(2887-2889)ATC>ATT		LATS homolog 1							61.0	65.0	64.0					6																	149983369		2161	4288	6449	SO:0001819	synonymous_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149983369G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2889C>T	6.37:g.149983369G>A						LATS1_uc010kif.1_Silent_p.I858I	p.I963I	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3437	-		Ovarian(120;0.0164)	963			Protein kinase.			Silent	SNP	ENST00000543571.1	37	c.2889C>T	CCDS34551.1																																																																																				PASS	0.348	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		22	27	22	27	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151107560	151107560	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:151107560G>A	ENST00000358517.2	+	4	758	c.547G>A	c.(547-549)Gat>Aat	p.D183N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D183N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	183	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D183N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGTGAAAATGATCCTGTGGC	0.373																																						uc003qny.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(547-549)GAT>AAT		pleckstrin homology domain containing, family G							107.0	108.0	107.0					6																	151107560		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151107560G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.547G>A	6.37:g.151107560G>A	ENSP00000351318:p.Asp183Asn					PLEKHG1_uc011eel.1_Missense_Mutation_p.D223N|PLEKHG1_uc011eem.1_Missense_Mutation_p.D242N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.D183N	p.D183N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	5	859	+			183			DH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.547G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872109	0.91587	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.63913	-0.07;-0.07	5.9	5.9	0.94986	Dbl homology (DH) domain (5);	0.041713	0.85682	D	0.000000	T	0.64724	0.2624	N	0.21324	0.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66085	-0.6011	10	0.49607	T	0.09	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	183;183	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	N	183	ENSP00000356297:D183N;ENSP00000351318:D183N	ENSP00000351318:D183N	D	+	1	0	PLEKHG1	151149253	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.073000	0.89498	2.808000	0.96608	0.650000	0.86243	GAT		PASS	0.373	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			22	34	22	34	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151669885	151669886	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:151669885_151669886CC>TT	ENST00000253332.1	+	3	548_549	c.359_360CC>TT	c.(358-360)tCC>tTT	p.S120F	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Missense_Mutation_p.S120F|AKAP12_ENST00000359755.5_Missense_Mutation_p.S15F|AKAP12_ENST00000354675.6_Missense_Mutation_p.S22F			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	120					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.S120F(2)|p.S120S(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAAAGAGACTCCGATAAAGAGA	0.45																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(358-360)TCC>TTC|c.(358-360)TCC>TCT		A kinase (PRKA) anchor protein 12 isoform 1																																				SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151669885C>T|g.chr6:151669886C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	Exception_encountered	6.37:g.151669885_151669886delinsTT	ENSP00000253332:p.Ser120Phe					AKAP12_uc003qoe.2_Missense_Mutation_p.S120F|AKAP12_uc003qof.2_Missense_Mutation_p.S22F|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S15F|AKAP12_uc003qoe.2_Silent_p.S120S|AKAP12_uc003qof.2_Silent_p.S22S|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.S15S	p.S120F|p.S120S	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	599|600	+		Ovarian(120;0.125)	120					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation|Silent	SNP	ENST00000253332.1	37	c.359C>T|c.360C>T	CCDS5229.1																																																																																				PASS	0.450	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			8|9	22	8	22	---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151790238	151790238	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:151790238C>T	ENST00000367294.3	+	5	1578	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	C6orf211_ENST00000545879.1_Missense_Mutation_p.P321L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	440								p.P440L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TACGATGGTCCCCTTTGACTT	0.517																																						uc003qok.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)CCC>CTC		hypothetical protein LOC79624							20.0	21.0	21.0					6																	151790238		1957	4156	6113	SO:0001583	missense	79624						protein binding	g.chr6:151790238C>T	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1319C>T	6.37:g.151790238C>T	ENSP00000356263:p.Pro440Leu					C6orf211_uc011ees.1_Missense_Mutation_p.P321L	p.P440L	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1578	+			440					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.1319C>T	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463358	0.43736	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.15017	2.83;2.46	6.16	4.38	0.52667	.	0.474220	0.23485	N	0.047665	T	0.04543	0.0124	L	0.38175	1.15	0.18873	N	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.23868	-1.0176	10	0.72032	D	0.01	.	4.0179	0.09652	0.1768:0.5988:0.0:0.2244	.	440	Q9H993	CF211_HUMAN	L	440;321	ENSP00000356263:P440L;ENSP00000444121:P321L	ENSP00000356263:P440L	P	+	2	0	C6orf211	151831931	0.020000	0.18652	0.017000	0.16124	0.110000	0.19582	1.567000	0.36407	1.617000	0.50277	0.650000	0.86243	CCC		PASS	0.517	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		6	8	6	8	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152415611	152415612	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:152415611_152415612CC>TT	ENST00000206249.3	+	7	1823_1824	c.1461_1462CC>TT	c.(1459-1464)atCCac>atTTac	p.H488Y	ESR1_ENST00000338799.5_Missense_Mutation_p.H488Y|ESR1_ENST00000443427.1_Missense_Mutation_p.H488Y|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.H488Y|ESR1_ENST00000406599.1_Missense_Mutation_p.H227Y|ESR1_ENST00000456483.2_Missense_Mutation_p.H376Y	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	488	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H488Y(2)|p.I487I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACACTTTGATCCACCTGATGGC	0.569																																						uc003qom.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1459-1461)ATC>ATT|c.(1462-1464)CAC>TAC		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)																																			SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152415611C>T|g.chr6:152415612C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	Exception_encountered	6.37:g.152415611_152415612delinsTT	ENSP00000206249:p.His488Tyr					ESR1_uc010kin.2_Silent_p.I487I|ESR1_uc010kio.2_Silent_p.I489I|ESR1_uc010kip.2_Silent_p.I486I|ESR1_uc003qon.3_Silent_p.I487I|ESR1_uc003qoo.3_Silent_p.I487I|ESR1_uc010kiq.2_Silent_p.I85I|ESR1_uc010kir.2_Silent_p.I226I|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Silent_p.I72I|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Silent_p.I156I|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron|ESR1_uc010kin.2_Missense_Mutation_p.H488Y|ESR1_uc010kio.2_Missense_Mutation_p.H490Y|ESR1_uc010kip.2_Missense_Mutation_p.H487Y|ESR1_uc003qon.3_Missense_Mutation_p.H488Y|ESR1_uc003qoo.3_Missense_Mutation_p.H488Y|ESR1_uc010kiq.2_Missense_Mutation_p.H86Y|ESR1_uc010kir.2_Missense_Mutation_p.H227Y|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Missense_Mutation_p.H73Y|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.H157Y|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	p.I487I|p.H488Y	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1831|1832	+		Ovarian(120;0.0448)	487|488			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent|Missense_Mutation	SNP	ENST00000206249.3	37	c.1461C>T|c.1462C>T	CCDS5234.1																																																																																				PASS	0.569	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			27|26	42	26	42	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152605216	152605216	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:152605216G>A	ENST00000367255.5	-	96	18705	c.18104C>T	c.(18103-18105)gCc>gTc	p.A6035V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A5964V|SYNE1_ENST00000356820.4_Missense_Mutation_p.A559V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A6035V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A5647V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5964V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6035					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A6035V(2)|p.A5964V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCAGGGTCGGCCTCACAAGA	0.557										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18103-18105)GCC>GTC		spectrin repeat containing, nuclear envelope 1							79.0	76.0	77.0					6																	152605216		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152605216G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18104C>T	6.37:g.152605216G>A	ENSP00000356224:p.Ala6035Val	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.A559V|SYNE1_uc003qos.3_Missense_Mutation_p.A559V|SYNE1_uc003qot.3_Missense_Mutation_p.A5964V|SYNE1_uc003qou.3_Missense_Mutation_p.A6035V|SYNE1_uc010kiy.1_Missense_Mutation_p.A214V	p.A6035V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18706	-		Ovarian(120;0.0955)	6035			Spectrin 20.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18104C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394569	0.42512	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663	T;T;T;T;T;T;T	0.46451	1.3;1.3;1.3;1.3;1.3;0.87;1.3	5.84	1.96	0.26148	.	1.265770	0.05511	N	0.560193	T	0.14614	0.0353	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.001;0.006	B;B;B;B	0.16722	0.001;0.001;0.001;0.016	T	0.36841	-0.9731	10	0.45353	T	0.12	.	11.406	0.49898	0.0641:0.3557:0.5801:0.0	.	450;6035;6035;5964	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	6035;5964;6035;5964;5647;559;210	ENSP00000356224:A6035V;ENSP00000396024:A5964V;ENSP00000265368:A6035V;ENSP00000390975:A5964V;ENSP00000341887:A5647V;ENSP00000349276:A559V;ENSP00000437411:A210V	ENSP00000265368:A6035V	A	-	2	0	SYNE1	152646909	0.015000	0.18098	0.046000	0.18839	0.926000	0.56050	1.879000	0.39618	0.357000	0.24183	0.650000	0.86243	GCC		PASS	0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		18	36	18	36	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152631852	152631852	+	Missense_Mutation	SNP	G	G	A	rs570556738		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:152631852G>A	ENST00000367255.5	-	88	17468	c.16867C>T	c.(16867-16869)Cgt>Tgt	p.R5623C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R5552C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R147C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R5623C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R5235C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R5552C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5623					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R5623C(2)|p.R5552C(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGCAAACGAATTTTGATC	0.393										HNSCC(10;0.0054)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.001					uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16867-16869)CGT>TGT		spectrin repeat containing, nuclear envelope 1							86.0	77.0	80.0					6																	152631852		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152631852G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16867C>T	6.37:g.152631852G>A	ENSP00000356224:p.Arg5623Cys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R147C|SYNE1_uc003qos.3_Missense_Mutation_p.R147C|SYNE1_uc003qot.3_Missense_Mutation_p.R5552C|SYNE1_uc003qou.3_Missense_Mutation_p.R5623C	p.R5623C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	88	17469	-		Ovarian(120;0.0955)	5623			Spectrin 17.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16867C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570130	0.86542	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.57436	0.74;0.74;0.74;0.74;0.4;0.74	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000008	T	0.67795	0.2931	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.968;0.968;0.986	T	0.69774	-0.5054	10	0.72032	D	0.01	.	16.0146	0.80427	0.0:0.0:0.865:0.135	.	5623;5623;5552	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	5623;5552;5623;5552;5235;147	ENSP00000356224:R5623C;ENSP00000396024:R5552C;ENSP00000265368:R5623C;ENSP00000390975:R5552C;ENSP00000341887:R5235C;ENSP00000349276:R147C	ENSP00000265368:R5623C	R	-	1	0	SYNE1	152673545	1.000000	0.71417	0.559000	0.28332	0.978000	0.69477	7.682000	0.84083	2.847000	0.97988	0.655000	0.94253	CGT		PASS	0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	20	8	20	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152730358	152730358	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:152730358C>T	ENST00000367255.5	-	44	6986	c.6385G>A	c.(6385-6387)Gaa>Aaa	p.E2129K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2136K|RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2129K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2166K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2136K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2129					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E2129K(2)|p.E2136K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGCAGTTTCATGCTGTGGA	0.299										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(6385-6387)GAA>AAA		spectrin repeat containing, nuclear envelope 1							102.0	100.0	101.0					6																	152730358		2203	4298	6501	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152730358C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6385G>A	6.37:g.152730358C>T	ENSP00000356224:p.Glu2129Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E2136K|SYNE1_uc003qou.3_Missense_Mutation_p.E2129K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2112K	p.E2129K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	44	6987	-		Ovarian(120;0.0955)	2129			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6385G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348640	0.82132	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.57	5.57	0.84162	.	0.095389	0.45606	D	0.000351	T	0.31263	0.0791	M	0.63843	1.955	0.80722	D	1	P;D;D;D	0.54397	0.954;0.966;0.966;0.957	B;P;P;P	0.49477	0.43;0.493;0.493;0.612	T	0.01993	-1.1233	10	0.23302	T	0.38	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	2112;2129;2129;2136	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2129;2136;2129;2136;2166	ENSP00000356224:E2129K;ENSP00000396024:E2136K;ENSP00000265368:E2129K;ENSP00000390975:E2136K;ENSP00000341887:E2166K	ENSP00000265368:E2129K	E	-	1	0	SYNE1	152772051	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.794000	0.85869	2.630000	0.89119	0.655000	0.94253	GAA		PASS	0.299	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	33	9	33	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152765648	152765648	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:152765648G>A	ENST00000367255.5	-	30	4336	c.3735C>T	c.(3733-3735)ctC>ctT	p.L1245L	SYNE1_ENST00000423061.1_Silent_p.L1252L|SYNE1_ENST00000367248.3_Silent_p.L1235L|SYNE1_ENST00000265368.4_Silent_p.L1245L|SYNE1_ENST00000341594.5_Silent_p.L1311L|SYNE1_ENST00000448038.1_Silent_p.L1252L|SYNE1_ENST00000413186.2_Silent_p.L1245L|SYNE1_ENST00000367253.4_Silent_p.L1245L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1245					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L1245L(2)|p.L1252L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAATTCTTCGAGAGAATTTT	0.348										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3733-3735)CTC>CTT		spectrin repeat containing, nuclear envelope 1							77.0	77.0	77.0					6																	152765648		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152765648G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3735C>T	6.37:g.152765648G>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L1252L|SYNE1_uc003qou.3_Silent_p.L1245L|SYNE1_uc010kjb.1_Silent_p.L1228L|SYNE1_uc003qow.2_Silent_p.L540L|SYNE1_uc003qox.1_Silent_p.L761L	p.L1245L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	30	4337	-		Ovarian(120;0.0955)	1245			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.3735C>T	CCDS5236.2																																																																																				PASS	0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	23	11	23	---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153043010	153043010	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:153043010G>A	ENST00000367245.5	+	2	338	c.330G>A	c.(328-330)agG>agA	p.R110R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	110						nucleus (GO:0005634)		p.R110R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GTTCAAGCAGGAGATCTAGGT	0.517																																						uc003qpd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(328-330)AGG>AGA		myc target 1							150.0	137.0	142.0					6																	153043010		2203	4300	6503	SO:0001819	synonymous_variant	80177					nucleus		g.chr6:153043010G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.330G>A	6.37:g.153043010G>A						MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.R110R	p.R110R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	338	+		Ovarian(120;0.0654)	110			Bipartite nuclear localization signal (Potential).		Q8N396|Q8TBE8|Q9H763	Silent	SNP	ENST00000367245.5	37	c.330G>A	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763265	0.15914	.	.	ENSG00000120279	ENST00000532295	.	.	.	5.77	2.54	0.30619	.	.	.	.	.	T	0.29556	0.0737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18745	-1.0327	4	.	.	.	-23.0228	2.8846	0.05657	0.1352:0.3063:0.3677:0.1908	.	.	.	.	E	91	.	.	G	+	2	0	MYCT1	153084703	0.943000	0.32029	0.071000	0.20095	0.981000	0.71138	0.038000	0.13862	0.707000	0.31934	0.573000	0.79308	GGA		PASS	0.517	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		26	54	26	54	---	---	---	---
RGS17	26575	broad.mit.edu	37	6	153365058	153365058	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:153365058C>A	ENST00000367225.2	-	1	120	c.96G>T	c.(94-96)tgG>tgT	p.W32C	RGS17_ENST00000206262.1_Missense_Mutation_p.W32C			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	32	Poly-Cys.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.W32C(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAACAGCACCAACAAAAGC	0.507																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(94-96)TGG>TGT		regulator of G-protein signalling 17							167.0	159.0	162.0					6																	153365058		2203	4300	6503	SO:0001583	missense	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153365058C>A	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.96G>T	6.37:g.153365058C>A	ENSP00000356194:p.Trp32Cys						p.W32C	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	2	252	-		Ovarian(120;0.126)	32			Poly-Cys.		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.96G>T	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444630	0.43429	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.52057	0.68;0.68	5.29	5.29	0.74685	.	0.595553	0.20158	N	0.098018	T	0.45518	0.1346	M	0.85462	2.755	0.80722	D	1	B	0.26002	0.139	B	0.29598	0.104	T	0.48490	-0.9031	10	0.32370	T	0.25	-20.6924	18.9294	0.92558	0.0:1.0:0.0:0.0	.	32	Q9UGC6	RGS17_HUMAN	C	32	ENSP00000356194:W32C;ENSP00000206262:W32C	ENSP00000206262:W32C	W	-	3	0	RGS17	153406751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.766000	0.68843	2.473000	0.83533	0.460000	0.39030	TGG		PASS	0.507	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			42	90	42	90	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154360940	154360940	+	Silent	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:154360940A>C	ENST00000330432.7	+	1	498	c.261A>C	c.(259-261)ggA>ggC	p.G87G	OPRM1_ENST00000452687.2_Silent_p.G87G|OPRM1_ENST00000434900.2_Silent_p.G180G|OPRM1_ENST00000524163.1_Silent_p.G87G|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000428397.2_Silent_p.G87G|OPRM1_ENST00000229768.5_Silent_p.G87G|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000337049.4_Silent_p.G87G|OPRM1_ENST00000360422.4_Silent_p.G87G|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_Silent_p.G87G|OPRM1_ENST00000414028.2_Silent_p.G87G|OPRM1_ENST00000435918.2_Silent_p.G87G	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	87					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.G87G(2)|p.G180G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGCTCTTCGGAAACTTCCTGG	0.587																																						uc003qpr.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(259-261)GGA>GGC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						75.0	77.0	77.0					6																	154360940		1993	4168	6161	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360940A>C	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.261A>C	6.37:g.154360940A>C						OPRM1_uc011efb.1_Silent_p.G135G|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.G180G|OPRM1_uc003qpn.2_Silent_p.G87G|OPRM1_uc003qpo.1_Silent_p.G87G|OPRM1_uc011eff.1_Silent_p.G87G|OPRM1_uc011efg.1_Silent_p.G87G|OPRM1_uc011efh.1_Silent_p.G87G|OPRM1_uc003qpq.1_Silent_p.G87G|OPRM1_uc003qpt.1_Silent_p.G87G|OPRM1_uc011efi.1_Silent_p.G87G|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	p.G87G	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	498	+		Ovarian(120;0.196)	87			Helical; Name=1; (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.261A>C	CCDS55070.1																																																																																				PASS	0.587	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		7	26	7	26	---	---	---	---
OPRM1	4988	broad.mit.edu	37	6	154412509	154412509	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:154412509A>G	ENST00000330432.7	+	3	1303	c.1066A>G	c.(1066-1068)Acc>Gcc	p.T356A	OPRM1_ENST00000452687.2_Missense_Mutation_p.T356A|OPRM1_ENST00000434900.2_Missense_Mutation_p.T449A|OPRM1_ENST00000524163.1_Missense_Mutation_p.T356A|OPRM1_ENST00000522555.1_Missense_Mutation_p.T256A|OPRM1_ENST00000522236.1_Missense_Mutation_p.T256A|OPRM1_ENST00000518759.1_Missense_Mutation_p.T275A|OPRM1_ENST00000428397.2_Missense_Mutation_p.T356A|OPRM1_ENST00000229768.5_Missense_Mutation_p.T356A|OPRM1_ENST00000337049.4_Missense_Mutation_p.T356A|OPRM1_ENST00000360422.4_Missense_Mutation_p.T356A|OPRM1_ENST00000520708.1_Missense_Mutation_p.T256A|OPRM1_ENST00000419506.2_Missense_Mutation_p.T356A|OPRM1_ENST00000414028.2_Missense_Mutation_p.T356A|OPRM1_ENST00000435918.2_Missense_Mutation_p.T356A	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	356					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.T356A(2)|p.T449A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTGTATCCCAACCTCTTCCAA	0.453																																						uc003qpr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1066-1068)ACC>GCC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						81.0	80.0	80.0					6																	154412509		1935	4133	6068	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412509A>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1066A>G	6.37:g.154412509A>G	ENSP00000328264:p.Thr356Ala					OPRM1_uc011efc.1_Missense_Mutation_p.T275A|OPRM1_uc011efd.1_Missense_Mutation_p.T256A|OPRM1_uc011efe.1_Missense_Mutation_p.T449A|OPRM1_uc003qpn.2_Missense_Mutation_p.T356A|OPRM1_uc003qpo.1_Missense_Mutation_p.T356A|OPRM1_uc011eff.1_Missense_Mutation_p.T356A|OPRM1_uc011efg.1_Missense_Mutation_p.T356A|OPRM1_uc011efh.1_Missense_Mutation_p.T356A|OPRM1_uc003qpq.1_Missense_Mutation_p.T356A|OPRM1_uc003qpt.1_Missense_Mutation_p.T356A|OPRM1_uc011efi.1_Missense_Mutation_p.T356A|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.T256A|OPRM1_uc003qpu.2_Missense_Mutation_p.T256A	p.T356A	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1303	+		Ovarian(120;0.196)	356			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1066A>G	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	A	3.986	-0.005369	0.07773	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	6.16	5.01	0.66863	.	0.317137	0.36932	N	0.002331	T	0.11537	0.0281	L	0.27053	0.805	0.38409	D	0.945868	B;B;B;B;B;B;B;B;B;B;B;B	0.33212	0.209;0.0;0.0;0.402;0.003;0.001;0.0;0.0;0.0;0.003;0.001;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.35510	0.204;0.001;0.001;0.204;0.01;0.002;0.002;0.004;0.001;0.009;0.007;0.001	T	0.05354	-1.0890	10	0.10636	T	0.68	.	12.561	0.56281	0.9356:0.0:0.0644:0.0	.	356;356;356;356;449;275;256;356;356;356;356;356	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	A	449;256;275;356;356;356;356;356;356;356;356;356;356;256;256	ENSP00000394624:T449A;ENSP00000430876:T256A;ENSP00000430260:T275A;ENSP00000328264:T356A;ENSP00000353598:T356A;ENSP00000411903:T356A;ENSP00000410497:T356A;ENSP00000229768:T356A;ENSP00000403549:T356A;ENSP00000430097:T356A;ENSP00000399359:T356A;ENSP00000413752:T356A;ENSP00000338381:T356A;ENSP00000429719:T256A;ENSP00000429373:T256A	ENSP00000229768:T356A	T	+	1	0	OPRM1	154454202	0.997000	0.39634	0.994000	0.49952	0.264000	0.26372	3.698000	0.54771	1.152000	0.42452	-0.270000	0.10280	ACC		PASS	0.453	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		22	53	22	53	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155571102	155571102	+	Splice_Site	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:155571102A>C	ENST00000461783.3	+	23	5223	c.3950A>C	c.(3949-3951)gAg>gCg	p.E1317A	TIAM2_ENST00000367174.2_Splice_Site_p.E693A|TIAM2_ENST00000528391.2_Splice_Site_p.E653A|TIAM2_ENST00000275246.7_Splice_Site_p.E242A|TIAM2_ENST00000456877.2_Splice_Site_p.E629A|TIAM2_ENST00000529824.2_Splice_Site_p.E1317A|TIAM2_ENST00000318981.5_Splice_Site_p.E1317A|TIAM2_ENST00000360366.4_Splice_Site_p.E1341A|TIAM2_ENST00000456144.1_Splice_Site_p.E1317A			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1317					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1317A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACAGAGAAGGAGGTCCGTGAG	0.527																																						uc003qqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3949-3951)GAG>GCG		T-cell lymphoma invasion and metastasis 2							121.0	102.0	109.0					6																	155571102		2203	4300	6503	SO:0001630	splice_region_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155571102A>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3951+1A>C	6.37:g.155571102A>C						TIAM2_uc003qqe.2_Missense_Mutation_p.E1317A|TIAM2_uc010kjj.2_Missense_Mutation_p.E850A|TIAM2_uc003qqf.2_Missense_Mutation_p.E693A|TIAM2_uc011efl.1_Missense_Mutation_p.E653A|TIAM2_uc003qqg.2_Missense_Mutation_p.E629A|TIAM2_uc003qqh.2_Missense_Mutation_p.E242A	p.E1317A	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	23	5223	+		Ovarian(120;0.196)	1317					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3950A>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175194	0.78564	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.09630	3.41;3.35;3.33;3.41;3.23;3.39;3.33;3.23;3.22;2.96	5.29	5.29	0.74685	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.57536	1.79	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;1.0;0.999;0.991	D;D;D;P	0.81914	0.934;0.995;0.98;0.87	T	0.00834	-1.1547	10	0.66056	D	0.02	.	15.232	0.73398	1.0:0.0:0.0:0.0	.	653;1317;1341;1317	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	A	1317;1563;1317;1317;1317;693;1341;1317;629;653;242	ENSP00000437188:E1317A;ENSP00000434901:E1317A;ENSP00000407746:E1317A;ENSP00000327315:E1317A;ENSP00000356142:E693A;ENSP00000353528:E1341A;ENSP00000433348:E1317A;ENSP00000407183:E629A;ENSP00000435335:E653A;ENSP00000275246:E242A	ENSP00000275246:E242A	E	+	2	0	TIAM2	155612794	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	9.243000	0.95416	2.010000	0.58986	0.460000	0.39030	GAG		PASS	0.527	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	Missense_Mutation	19	35	19	35	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761200	155761200	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:155761200C>T	ENST00000159060.2	-	6	660	c.558G>A	c.(556-558)ttG>ttA	p.L186L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	186	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.L186L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGGTCATGATCAAGACTAAAG	0.443																																						uc003qqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(556-558)TTG>TTA		NADPH oxidase 3							146.0	135.0	139.0					6																	155761200		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761200C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.558G>A	6.37:g.155761200C>T							p.L186L	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	661	-		Breast(66;0.0183)	186			Ferric oxidoreductase.|Helical; (Potential).		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.558G>A	CCDS5250.1																																																																																				PASS	0.443	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			15	48	15	48	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157150511	157150511	+	Missense_Mutation	SNP	C	C	T	rs143370913	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:157150511C>T	ENST00000350026.5	+	2	1694	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	ARID1B_ENST00000275248.4_Missense_Mutation_p.R507W|ARID1B_ENST00000367148.1_Missense_Mutation_p.R565W|ARID1B_ENST00000346085.5_Missense_Mutation_p.R565W	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	565					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R565W(1)|p.R507W(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATCCAGGGTCGGACTCCCGG	0.582																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1519-1521)CGG>TGG		AT rich interactive domain 1B (SWI1-like)							55.0	53.0	54.0					6																	157150511		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150511C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1693C>T	6.37:g.157150511C>T	ENSP00000055163:p.Arg565Trp					ARID1B_uc003qqo.2_Missense_Mutation_p.R507W|ARID1B_uc003qqp.2_Missense_Mutation_p.R507W	p.R507W	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1671	+		Breast(66;0.000162)|Ovarian(120;0.0265)	565					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1519C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785585	0.49997	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.03124	4.22;4.04;4.07;4.08;4.07	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000031	T	0.09512	0.0234	L	0.46157	1.445	0.42141	D	0.991514	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.09640	-1.0665	10	0.72032	D	0.01	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	565;565;507	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	W	565;565;565;507;64	ENSP00000344546:R565W;ENSP00000055163:R565W;ENSP00000356116:R565W;ENSP00000275248:R507W;ENSP00000412835:R64W	ENSP00000275248:R507W	R	+	1	2	ARID1B	157192203	0.918000	0.31147	0.784000	0.31847	0.866000	0.49608	1.830000	0.39131	2.515000	0.84797	0.650000	0.86243	CGG		PASS	0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		13	14	13	14	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158924312	158924312	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:158924312C>T	ENST00000367097.3	+	13	4974	c.3617C>T	c.(3616-3618)cCc>cTc	p.P1206L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1206					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1206L(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGCAGGCTCCCTGCTCTCCC	0.587																																						uc003qrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3616-3618)CCC>CTC		tubby like protein 4 isoform 1							86.0	83.0	84.0					6																	158924312		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924312C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3617C>T	6.37:g.158924312C>T	ENSP00000356064:p.Pro1206Leu					TULP4_uc003qrg.2_Intron	p.P1206L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4974	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1206					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.3617C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113426	0.56398	.	.	ENSG00000130338	ENST00000367097	T	0.20881	2.04	5.08	5.08	0.68730	.	0.112811	0.64402	D	0.000007	T	0.17408	0.0418	M	0.61703	1.905	0.80722	D	1	B	0.22604	0.072	B	0.24006	0.05	T	0.03121	-1.1070	10	0.87932	D	0	-18.7604	18.6491	0.91423	0.0:1.0:0.0:0.0	.	1206	Q9NRJ4	TULP4_HUMAN	L	1206	ENSP00000356064:P1206L	ENSP00000356064:P1206L	P	+	2	0	TULP4	158844300	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	5.451000	0.66632	2.640000	0.89533	0.561000	0.74099	CCC		PASS	0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		23	59	23	59	---	---	---	---
SYTL3	94120	broad.mit.edu	37	6	159146621	159146621	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:159146621C>A	ENST00000297239.9	+	10	1001	c.807C>A	c.(805-807)ctC>ctA	p.L269L	SYTL3_ENST00000367081.3_Intron|SYTL3_ENST00000360448.3_Silent_p.L201L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	269					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.L201L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AACAGAATCTCCCATCCAGTC	0.403																																						uc003qrp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(805-807)CTC>CTA		synaptotagmin-like 3							214.0	216.0	215.0					6																	159146621		2203	4300	6503	SO:0001819	synonymous_variant	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159146621C>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.807C>A	6.37:g.159146621C>A						SYTL3_uc011efp.1_Silent_p.L269L|SYTL3_uc003qro.2_Silent_p.L201L|SYTL3_uc003qrq.2_Silent_p.L201L|SYTL3_uc003qrr.2_Silent_p.L269L|SYTL3_uc003qrs.2_Silent_p.L201L|SYTL3_uc011efq.1_Intron	p.L269L	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	10	1051	+		Breast(66;0.000776)|Ovarian(120;0.0303)	269					Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.807C>A	CCDS56458.1																																																																																				PASS	0.403	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			30	104	30	104	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653084	159653084	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:159653084T>C	ENST00000297267.9	+	11	1740	c.1540T>C	c.(1540-1542)Ttg>Ctg	p.L514L	FNDC1_ENST00000340366.6_Silent_p.L451L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	514					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.L514L(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)		GAACAAAATATTGGCTAATGG	0.557																																						uc010kjv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1540-1542)TTG>CTG		fibronectin type III domain containing 1							26.0	29.0	28.0					6																	159653084		1847	4094	5941	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159653084T>C	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.1540T>C	6.37:g.159653084T>C						FNDC1_uc010kjw.1_Silent_p.L399L	p.L514L	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	1740	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	514					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.1540T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	6.546	0.468983	0.12461	.	.	ENSG00000164694	ENST00000329629	T	0.05258	3.47	5.93	-2.52	0.06346	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46721	-0.9171	6	0.10111	T	0.7	-4.0725	7.2398	0.26090	0.0:0.2336:0.137:0.6294	.	.	.	.	T	409	ENSP00000333297:I409T	ENSP00000333297:I409T	I	+	2	0	FNDC1	159573074	0.000000	0.05858	0.009000	0.14445	0.168000	0.22595	-0.837000	0.04377	-0.130000	0.11599	-0.912000	0.02778	ATT		PASS	0.557	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		10	20	10	20	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159654381	159654381	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:159654381C>T	ENST00000297267.9	+	11	3037	c.2837C>T	c.(2836-2838)gCc>gTc	p.A946V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A883V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	946					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.A946V(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)		TCCTCCCTGGCCTCCAAGGCT	0.617																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2836-2838)GCC>GTC		fibronectin type III domain containing 1							59.0	70.0	66.0					6																	159654381		2141	4244	6385	SO:0001583	missense	84624					extracellular region		g.chr6:159654381C>T	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.2837C>T	6.37:g.159654381C>T	ENSP00000297267:p.Ala946Val					FNDC1_uc010kjw.1_Missense_Mutation_p.A831V	p.A946V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3037	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	946					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2837C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899597	0.52227	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07444	3.19;4.01	4.13	3.25	0.37280	.	1.372380	0.04942	N	0.458806	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.22386	0.009;0.039	T	0.44802	-0.9304	10	0.40728	T	0.16	-1.2366	8.0081	0.30336	0.0:0.8867:0.0:0.1133	.	883;946	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	946;883	ENSP00000297267:A946V;ENSP00000342460:A883V	ENSP00000297267:A946V	A	+	2	0	FNDC1	159574371	0.036000	0.19791	0.001000	0.08648	0.621000	0.37620	2.293000	0.43558	0.943000	0.37553	0.655000	0.94253	GCC		PASS	0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	19	6	19	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159655137	159655137	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:159655137C>T	ENST00000297267.9	+	11	3793	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1135F	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1198					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.S1198F(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)		CTTCTGTCTTCCTCTGTGCCA	0.627																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(3592-3594)TCC>TTC		fibronectin type III domain containing 1							20.0	24.0	23.0					6																	159655137		1894	4091	5985	SO:0001583	missense	84624					extracellular region		g.chr6:159655137C>T	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.3593C>T	6.37:g.159655137C>T	ENSP00000297267:p.Ser1198Phe					FNDC1_uc010kjw.1_Missense_Mutation_p.S1083F	p.S1198F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3793	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1198					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3593C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631243	0.46944	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.10668	2.85;3.68	4.78	3.9	0.45041	.	0.831218	0.10664	N	0.648420	T	0.06917	0.0176	L	0.29908	0.895	0.18873	N	0.999983	D;P	0.60160	0.987;0.838	P;B	0.51135	0.66;0.364	T	0.27640	-1.0068	10	0.72032	D	0.01	-1.4336	12.9931	0.58632	0.0:0.8375:0.1625:0.0	.	1135;1198	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	F	1198;1135	ENSP00000297267:S1198F;ENSP00000342460:S1135F	ENSP00000297267:S1198F	S	+	2	0	FNDC1	159575127	0.903000	0.30736	0.013000	0.15412	0.201000	0.24016	1.961000	0.40432	0.985000	0.38656	0.514000	0.50259	TCC		PASS	0.627	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		9	9	9	9	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160494846	160494846	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:160494846C>T	ENST00000356956.1	+	35	5153	c.5005C>T	c.(5005-5007)Cgc>Tgc	p.R1669C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1669					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R1669C(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCTTATTCATCGCACTGGTGG	0.418																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5005-5007)CGC>TGC		insulin-like growth factor 2 receptor precursor							174.0	150.0	158.0					6																	160494846		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160494846C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5005C>T	6.37:g.160494846C>T	ENSP00000349437:p.Arg1669Cys						p.R1669C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	35	5153	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1669			Lumenal (Potential).|12.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5005C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984662	0.53934	.	.	ENSG00000197081	ENST00000356956	T	0.02216	4.39	5.82	5.82	0.92795	Mannose-6-phosphate receptor, binding (1);	0.509117	0.22768	N	0.055871	T	0.05181	0.0138	L	0.60455	1.87	0.53005	D	0.999969	D	0.71674	0.998	P	0.61722	0.893	T	0.28332	-1.0047	10	0.56958	D	0.05	-5.782	14.8914	0.70611	0.1433:0.8566:0.0:0.0	.	1669	P11717	MPRI_HUMAN	C	1669	ENSP00000349437:R1669C	ENSP00000349437:R1669C	R	+	1	0	IGF2R	160414836	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	2.642000	0.46596	2.757000	0.94681	0.655000	0.94253	CGC		PASS	0.418	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		12	38	12	38	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160952868	160952868	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:160952868C>T	ENST00000316300.5	-	39	6060	c.6016G>A	c.(6016-6018)Gga>Aga	p.G2006R	LPA_ENST00000447678.1_Missense_Mutation_p.G2006R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4514	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.G2006R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAAGTGACTCCTTGTAAAATG	0.468																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(6016-6018)GGA>AGA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						128.0	120.0	123.0					6																	160952868		2203	4299	6502	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160952868C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.6016G>A	6.37:g.160952868C>T	ENSP00000321334:p.Gly2006Arg						p.G2006R	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	40	6136	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4514			Peptidase S1.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.6016G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	16.07	3.019873	0.54576	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.97620	-4.46;-4.46	3.02	3.02	0.34903	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99036	0.9670	H	0.98996	4.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99013	1.0815	9	0.87932	D	0	.	13.9628	0.64191	0.0:1.0:0.0:0.0	.	4514	P08519	APOA_HUMAN	R	2006	ENSP00000321334:G2006R;ENSP00000395608:G2006R	ENSP00000321334:G2006R	G	-	1	0	LPA	160872858	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	6.968000	0.76086	1.412000	0.46977	0.184000	0.17185	GGA		PASS	0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		20	36	20	36	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161020671	161020671	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:161020671C>A	ENST00000316300.5	-	20	3192	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	LPA_ENST00000447678.1_Missense_Mutation_p.G1050W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3558	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.G1050W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCCTGTACCCCGGGGGTTTCC	0.433																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3148-3150)GGG>TGG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						130.0	146.0	140.0					6																	161020671		2190	4297	6487	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020671C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3148G>T	6.37:g.161020671C>A	ENSP00000321334:p.Gly1050Trp						p.G1050W	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3268	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3558			Kringle 32.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3148G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.628860	0.28978	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62639	0.01;0.01	2.31	1.4	0.22301	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.62696	0.2449	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45818	-0.9235	9	0.38643	T	0.18	.	4.2435	0.10660	0.0:0.7893:0.0:0.2107	.	3558	P08519	APOA_HUMAN	W	1050	ENSP00000321334:G1050W;ENSP00000395608:G1050W	ENSP00000321334:G1050W	G	-	1	0	LPA	160940661	0.107000	0.21998	0.915000	0.36163	0.120000	0.20174	2.037000	0.41174	1.267000	0.44247	0.205000	0.17691	GGG		PASS	0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	110	5	110	---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161470960	161470960	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:161470960T>C	ENST00000392142.4	+	3	1804	c.1656T>C	c.(1654-1656)ggT>ggC	p.G552G	MAP3K4_ENST00000366920.2_Silent_p.G552G|MAP3K4_ENST00000348824.7_Silent_p.G552G|MAP3K4_ENST00000366919.2_Silent_p.G552G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	552					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.G552G(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATGGATGGTTCCTTGCAAA	0.378																																						uc003qtn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(1654-1656)GGT>GGC		mitogen-activated protein kinase kinase kinase 4							98.0	102.0	101.0					6																	161470960		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470960T>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1656T>C	6.37:g.161470960T>C						MAP3K4_uc010kkc.1_Silent_p.G552G|MAP3K4_uc003qto.2_Silent_p.G552G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.G552G	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1798	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	552					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.1656T>C	CCDS34565.1																																																																																				PASS	0.378	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			14	42	14	42	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161990405	161990405	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:161990405C>T	ENST00000366898.1	-	8	1017	c.915G>A	c.(913-915)agG>agA	p.R305R	PARK2_ENST00000366896.1_Silent_p.R156R|PARK2_ENST00000338468.3_Silent_p.R114R|PARK2_ENST00000366894.1_Silent_p.R114R|PARK2_ENST00000366892.1_Silent_p.R305R|PARK2_ENST00000366897.1_Silent_p.R277R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	305					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.R305R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCCCAGAATCCTGAAGTGAT	0.468																																						uc003qtx.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(913-915)AGG>AGA		parkin isoform 1							116.0	110.0	112.0					6																	161990405		2203	4300	6503	SO:0001819	synonymous_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161990405C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.915G>A	6.37:g.161990405C>T						PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.R114R|PARK2_uc003qtw.3_Silent_p.R114R|PARK2_uc003qty.3_Silent_p.R277R|PARK2_uc003qtz.3_Silent_p.R156R|PARK2_uc010kke.1_Silent_p.R324R|PARK2_uc011egf.1_5'UTR	p.R305R	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	8	1049	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	305					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.915G>A	CCDS5281.1																																																																																				PASS	0.468	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			11	32	11	32	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162683632	162683632	+	Missense_Mutation	SNP	G	G	A	rs148252233		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:162683632G>A	ENST00000366898.1	-	3	439	c.337C>T	c.(337-339)Cca>Tca	p.P113S	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.P113S|PARK2_ENST00000366897.1_Missense_Mutation_p.P113S	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	113					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.P113S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GAGTCTCCTGGGAGGACTGAG	0.577																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(337-339)CCA>TCA		parkin isoform 1							61.0	62.0	62.0					6																	162683632		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683632G>A		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.337C>T	6.37:g.162683632G>A	ENSP00000355865:p.Pro113Ser					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.P113S|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.P113S	p.P113S	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	471	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	113					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.337C>T	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494745	0.64186	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895;ENST00000542682	D;D;D	0.91894	-2.79;-2.93;-2.83	5.09	5.09	0.68999	.	0.070018	0.64402	D	0.000017	D	0.94414	0.8203	M	0.76002	2.32	0.33243	D	0.557438	D;D;D	0.89917	1.0;0.988;0.994	D;P;P	0.91635	0.999;0.835;0.835	D	0.93873	0.7164	10	0.46703	T	0.11	.	14.0187	0.64541	0.0:0.0:1.0:0.0	.	113;113;113	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	S	113;113;113;34;112	ENSP00000355865:P113S;ENSP00000355863:P113S;ENSP00000355858:P113S	ENSP00000355858:P113S	P	-	1	0	PARK2	162603622	1.000000	0.71417	0.849000	0.33467	0.629000	0.37895	5.178000	0.65037	2.375000	0.81037	0.561000	0.74099	CCA		PASS	0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			11	30	11	30	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715741	165715741	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:165715741G>A	ENST00000230301.8	-	2	90	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	24								p.L24L(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGATTACACAGGGTCTTCACG	0.512																																						uc003qum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(70-72)CTG>TTG		hypothetical protein LOC168090							59.0	64.0	62.0					6																	165715741		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715741G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.70C>T	6.37:g.165715741G>A						C6orf118_uc011egi.1_RNA	p.L24L	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	106	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	24					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.70C>T	CCDS5288.1																																																																																				PASS	0.512	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		12	40	12	40	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165801805	165801805	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:165801805C>T	ENST00000366882.1	-	18	1918	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	PDE10A_ENST00000354448.4_Silent_p.Q588Q|PDE10A_ENST00000539869.2_Silent_p.Q598Q			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	588					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.Q588Q(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TGGACACAGTCTGGGAGAAGT	0.552																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1762-1764)CAG>CAA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						150.0	125.0	134.0					6																	165801805		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801805C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1764G>A	6.37:g.165801805C>T						PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.Q518Q|PDE10A_uc003quo.2_Silent_p.Q598Q	p.Q588Q	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	2005	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	588					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1764G>A																																																																																					PASS	0.552	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			19	74	19	74	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165842145	165842145	+	Splice_Site	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:165842145C>A	ENST00000366882.1	-	11	980		c.e11+1		PDE10A_ENST00000354448.4_Splice_Site|PDE10A_ENST00000539869.2_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.?(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAACAACCTACCATTATGTGT	0.318																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)	5						c.e11+1		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						89.0	81.0	84.0					6																	165842145		2195	4292	6487	SO:0001630	splice_region_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165842145C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.825+1G>T	6.37:g.165842145C>A						PDE10A_uc011egj.1_Splice_Site|PDE10A_uc011egk.1_Splice_Site_p.M205_splice|PDE10A_uc003quo.2_Splice_Site_p.M285_splice	p.M275_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	11	1066	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)						Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Splice_Site	SNP	ENST00000366882.1	37	c.825_splice		.	.	.	.	.	.	.	.	.	.	C	23.4	4.413560	0.83449	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5385	0.95264	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE10A	165762135	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.955000	0.76007	2.698000	0.92095	0.585000	0.79938	.		PASS	0.318	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Intron	7	11	7	11	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165862430	165862430	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:165862430C>T	ENST00000366882.1	-	6	506	c.352G>A	c.(352-354)Gga>Aga	p.G118R	PDE10A_ENST00000354448.4_Missense_Mutation_p.G118R|PDE10A_ENST00000539869.2_Missense_Mutation_p.G128R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	118	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.G118R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTGCACTCTCCAAGGAAATAC	0.348																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(352-354)GGA>AGA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						77.0	81.0	79.0					6																	165862430		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165862430C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.352G>A	6.37:g.165862430C>T	ENSP00000355847:p.Gly118Arg					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G48R|PDE10A_uc003quo.2_Missense_Mutation_p.G128R	p.G118R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	6	593	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	118			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.352G>A		.	.	.	.	.	.	.	.	.	.	C	22.0	4.234054	0.79688	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68903	-0.36;-0.36	5.88	5.88	0.94601	GAF (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	L	0.51422	1.61	0.80722	D	1	D;B	0.69078	0.997;0.408	D;B	0.68039	0.955;0.378	T	0.61505	-0.7049	10	0.07813	T	0.8	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	128;118	Q9ULW9;Q9Y233	.;PDE10_HUMAN	R	118;146;128;118;117	ENSP00000355847:G118R;ENSP00000346435:G118R	ENSP00000341187:G128R	G	-	1	0	PDE10A	165782420	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.305000	0.78891	2.774000	0.95407	0.655000	0.94253	GGA		PASS	0.348	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			8	33	8	33	---	---	---	---
T	6862	broad.mit.edu	37	6	166580159	166580159	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:166580159T>C	ENST00000296946.2	-	3	860	c.392A>G	c.(391-393)aAc>aGc	p.N131S	T_ENST00000366871.3_Missense_Mutation_p.N131S	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	131					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N131S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCCCCGAAGTTGGGCGAGTC	0.652									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(391-393)AAC>AGC		transcription factor T							54.0	60.0	58.0					6																	166580159		2203	4300	6503	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580159T>C	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.392A>G	6.37:g.166580159T>C	ENSP00000296946:p.Asn131Ser					T_uc003qut.1_Missense_Mutation_p.N131S|T_uc003quv.1_Missense_Mutation_p.N131S	p.N131S	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	885	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	131			T-box.		E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.392A>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639552	0.87760	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.87571	-2.27;-2.27;-2.27	4.61	4.61	0.57282	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.973;0.999	D;P;D	0.97110	1.0;0.864;0.99	D	0.86525	0.1818	10	0.23302	T	0.38	.	13.5156	0.61539	0.0:0.0:0.0:1.0	.	131;131;131	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	S	131	ENSP00000355841:N131S;ENSP00000296946:N131S;ENSP00000355836:N131S	ENSP00000296946:N131S	N	-	2	0	T	166500149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.727000	0.68523	1.847000	0.53656	0.533000	0.62120	AAC		PASS	0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		17	24	17	24	---	---	---	---
CCR6	1235	broad.mit.edu	37	6	167550254	167550254	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:167550254C>T	ENST00000341935.5	+	3	1088	c.536C>T	c.(535-537)tCc>tTc	p.S179F	CCR6_ENST00000349984.4_Missense_Mutation_p.S179F|CCR6_ENST00000400926.2_Missense_Mutation_p.S179F|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	179					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.S179F(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTCATCATCTCCAGCTCAACT	0.517																																						uc003qvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)TCC>TTC		chemokine (C-C motif) receptor 6							89.0	87.0	88.0					6																	167550254		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550254C>T	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.536C>T	6.37:g.167550254C>T	ENSP00000343952:p.Ser179Phe					CCR6_uc010kkm.2_Missense_Mutation_p.S179F|CCR6_uc003qvn.3_Missense_Mutation_p.S179F|CCR6_uc003qvm.3_Missense_Mutation_p.S179F	p.S179F	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3012	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	179			Helical; Name=4; (Potential).		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.536C>T	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541304	0.65085	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.44881	0.91;0.91;0.91	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.72112	0.3420	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82770	-0.0293	10	0.87932	D	0	.	17.1529	0.86782	0.0:1.0:0.0:0.0	.	179	P51684	CCR6_HUMAN	F	179	ENSP00000383715:S179F;ENSP00000343952:S179F;ENSP00000339393:S179F	ENSP00000343952:S179F	S	+	2	0	CCR6	167470244	1.000000	0.71417	0.939000	0.37840	0.228000	0.25075	5.335000	0.65929	2.264000	0.75181	0.655000	0.94253	TCC		PASS	0.517	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			14	33	14	33	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754328	167754328	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:167754328G>A	ENST00000239587.5	+	3	1028	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	314	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.E314K(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAAGATCAAAGAAGTGATTGG	0.433																																						uc003qvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(940-942)GAA>AAA		tubulin tyrosine ligase-like family, member 2							141.0	152.0	148.0					6																	167754328		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754328G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.940G>A	6.37:g.167754328G>A	ENSP00000239587:p.Glu314Lys					TTLL2_uc011egr.1_RNA	p.E314K	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1028	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	314			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.940G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762429	0.49574	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.05081	3.5	3.65	3.65	0.41850	.	0.191547	0.30575	N	0.009335	T	0.10423	0.0255	L	0.58302	1.8	0.42232	D	0.991899	D	0.54964	0.969	P	0.58172	0.834	T	0.02232	-1.1191	10	0.62326	D	0.03	.	14.4139	0.67135	0.0:0.0:1.0:0.0	.	314	Q9BWV7	TTLL2_HUMAN	K	314;241	ENSP00000239587:E314K	ENSP00000239587:E314K	E	+	1	0	TTLL2	167674318	1.000000	0.71417	0.099000	0.21106	0.095000	0.18619	7.007000	0.76335	2.020000	0.59435	0.491000	0.48974	GAA		PASS	0.433	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		30	74	30	74	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168352699	168352699	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:168352699C>T	ENST00000447894.2	+	29	4644	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	MLLT4_ENST00000392112.1_Silent_p.D1531D|MLLT4_ENST00000351017.4_Silent_p.D1555D|MLLT4_ENST00000344191.4_Silent_p.D1548D|MLLT4_ENST00000366806.2_Silent_p.D1548D|MLLT4_ENST00000400822.3_Silent_p.D1547D|MLLT4_ENST00000392108.3_Silent_p.D1548D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1548					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.D1532D(1)|p.D1548D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCAAACCGGACCGCAGCGCCG	0.607			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4639-4641)GAC>GAT		myeloid/lymphoid or mixed-lineage leukemia							50.0	52.0	52.0					6																	168352699		2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352699C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4644C>T	6.37:g.168352699C>T						MLLT4_uc003qwb.1_Silent_p.D1532D|MLLT4_uc003qwc.1_Silent_p.D1548D|MLLT4_uc003qwg.1_Silent_p.D857D	p.D1547D	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	4783	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1548			Potential.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.4641C>T		.	.	.	.	.	.	.	.	.	.	C	5.308	0.242192	0.10077	.	.	ENSG00000130396	ENST00000507704;ENST00000476946	.	.	.	5.34	-3.64	0.04515	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51498	-0.8698	4	.	.	.	-12.2184	10.0924	0.42456	0.0:0.4431:0.3809:0.176	.	.	.	.	I	39;24	.	.	T	+	2	0	MLLT4	168095548	0.781000	0.28676	0.780000	0.31762	0.485000	0.33311	-0.183000	0.09712	-0.417000	0.07461	0.655000	0.94253	ACC		PASS	0.607	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		12	19	12	19	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168443317	168443317	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:168443317C>T	ENST00000443060.2	+	9	1297	c.906C>T	c.(904-906)gtC>gtT	p.V302V	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.V302V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	302	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V302V(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGGCAGGCGTCCTGGGGGCTT	0.647																																						uc003qwk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(904-906)GTC>GTT		kinesin family member 25 isoform 1							98.0	95.0	96.0					6																	168443317		2203	4300	6503	SO:0001819	synonymous_variant	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443317C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.906C>T	6.37:g.168443317C>T						KIF25_uc003qwl.1_Intron	p.V302V	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1168	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	302					O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	c.906C>T	CCDS5305.1																																																																																				PASS	0.647	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			15	28	15	28	---	---	---	---
FRMD1	79981	broad.mit.edu	37	6	168464355	168464356	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:168464355_168464356CC>TT	ENST00000283309.6	-	6	793_794	c.729_730GG>AA	c.(727-732)aaGGag>aaAAag	p.E244K	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.E15K|FRMD1_ENST00000440994.2_Missense_Mutation_p.E176K	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	244	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.E244K(2)|p.K243K(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCATGGCCTCCTTGGGGCTCA	0.653																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	uc003qwo.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(730-732)GAG>AAG|c.(727-729)AAG>AAA		FERM domain containing 1 isoform 1																																				SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168464355C>T|g.chr6:168464356C>T		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.729_730delinsTT	6.37:g.168464355_168464356delinsTT	ENSP00000283309:p.Glu244Lys					FRMD1_uc003qwm.3_Missense_Mutation_p.E15K|FRMD1_uc011egs.1_Missense_Mutation_p.E15K|FRMD1_uc011egt.1_Missense_Mutation_p.E156K|FRMD1_uc003qwn.3_Missense_Mutation_p.E176K|FRMD1_uc003qwm.3_Silent_p.K14K|FRMD1_uc011egs.1_Silent_p.K14K|FRMD1_uc011egt.1_Silent_p.K155K|FRMD1_uc003qwn.3_Silent_p.K175K	p.E244K|p.K243K	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	6	795|794	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	244|243			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation|Silent	SNP	ENST00000283309.6	37	c.730G>A|c.729G>A	CCDS5306.1																																																																																				PASS	0.653	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		7	13	7	13	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648703	169648703	+	Missense_Mutation	SNP	C	C	T	rs534679770		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:169648703C>T	ENST00000366787.3	-	4	667	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	140	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E140K(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCGACGTCCTCCAGGGAGACC	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19873	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(418-420)GAG>AAG		thrombospondin 2 precursor							84.0	68.0	74.0					6																	169648703		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648703C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.418G>A	6.37:g.169648703C>T	ENSP00000355751:p.Glu140Lys						p.E140K	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	666	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	140			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.418G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697265	0.88830	.	.	ENSG00000186340	ENST00000366787	T	0.02121	4.44	4.61	3.74	0.42951	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41194	U	0.000925	T	0.07052	0.0179	M	0.80422	2.495	0.45284	D	0.998288	D	0.71674	0.998	D	0.79784	0.993	T	0.02244	-1.1189	10	0.72032	D	0.01	-41.5843	13.1337	0.59397	0.0:0.9215:0.0:0.0785	.	140	P35442	TSP2_HUMAN	K	140	ENSP00000355751:E140K	ENSP00000355751:E140K	E	-	1	0	THBS2	169390628	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.309000	0.78937	1.057000	0.40506	0.563000	0.77884	GAG		PASS	0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		14	29	14	29	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169648981	169648981	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:169648981C>T	ENST00000366787.3	-	4	389	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	47	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G47E(1)|p.G47V(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGGGTCGGGCCCGCGGAACTG	0.582																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(139-141)GGG>GAG		thrombospondin 2 precursor							97.0	78.0	84.0					6																	169648981		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648981C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.140G>A	6.37:g.169648981C>T	ENSP00000355751:p.Gly47Glu						p.G47E	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	388	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	47			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.140G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446960	0.84101	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.03663	3.85;3.85	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41823	U	0.000811	T	0.13628	0.0330	M	0.80982	2.52	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.02037	-1.1225	10	0.87932	D	0	-36.5525	17.4031	0.87466	0.0:1.0:0.0:0.0	.	47	P35442	TSP2_HUMAN	E	47	ENSP00000355751:G47E;ENSP00000398928:G47E	ENSP00000355751:G47E	G	-	2	0	THBS2	169390906	1.000000	0.71417	0.958000	0.39756	0.622000	0.37654	7.304000	0.78882	2.180000	0.69256	0.462000	0.41574	GGG		PASS	0.582	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		9	17	9	17	---	---	---	---
ERMARD	55780	broad.mit.edu	37	6	170179304	170179304	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:170179304G>A	ENST00000366773.3	+	17	1799	c.1766G>A	c.(1765-1767)aGc>aAc	p.S589N	ERMARD_ENST00000366772.2_Missense_Mutation_p.S542N|ERMARD_ENST00000392095.4_Missense_Mutation_p.S463N|ERMARD_ENST00000418781.3_Missense_Mutation_p.S516N|ERMARD_ENST00000588451.1_Missense_Mutation_p.S453N	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	589					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S589N(1)									CCTGTGCTCAGCCTGATACTG	0.398																																						uc003qxg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1765-1767)AGC>AAC		hypothetical protein LOC55780							218.0	179.0	192.0					6																	170179304		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170179304G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1766G>A	6.37:g.170179304G>A	ENSP00000355735:p.Ser589Asn					C6orf70_uc011ehb.1_Missense_Mutation_p.S463N|C6orf70_uc003qxh.1_Missense_Mutation_p.S516N|C6orf70_uc010kky.1_Missense_Mutation_p.S416N|C6orf70_uc003qxi.1_Missense_Mutation_p.S237N	p.S589N	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	1799	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	589			Helical; (Potential).		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1766G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	1.330	-0.597062	0.03771	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.45276	0.9;0.9	5.52	-1.53	0.08611	.	1.782910	0.02732	N	0.115240	T	0.11879	0.0289	L	0.54323	1.7	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.156	B;B;B	0.24394	0.053;0.037;0.016	T	0.05733	-1.0867	10	0.17832	T	0.49	.	1.1827	0.01848	0.3475:0.2836:0.239:0.1299	.	542;516;589	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	N	589;542;516;463;237	ENSP00000355735:S589N;ENSP00000375945:S463N	ENSP00000355733:S237N	S	+	2	0	C6orf70	169921229	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.186000	0.16978	-0.170000	0.10816	-1.224000	0.01588	AGC		PASS	0.398	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		23	21	23	21	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170592612	170592612	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr6:170592612C>T	ENST00000366756.3	-	9	2088	c.1755G>A	c.(1753-1755)ggG>ggA	p.G585G		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	585					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.G585G(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TCTCCGTCTCCCCCCGGCAGG	0.627																																						uc003qxm.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(1753-1755)GGG>GGA		delta-like 1 precursor							86.0	84.0	85.0					6																	170592612		2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592612C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1755G>A	6.37:g.170592612C>T							p.G585G	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2225	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	585			Cytoplasmic (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1755G>A	CCDS5313.1																																																																																				PASS	0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			16	25	16	25	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	892456	892456	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:892456C>T	ENST00000405266.1	+	10	1055	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	SUN1_ENST00000456758.2_Missense_Mutation_p.S496F|SUN1_ENST00000401592.1_Missense_Mutation_p.S307F|SUN1_ENST00000389574.3_Missense_Mutation_p.S224F|SUN1_ENST00000413514.2_Missense_Mutation_p.S116F|SUN1_ENST00000425407.2_Missense_Mutation_p.S224F|SUN1_ENST00000452783.2_Missense_Mutation_p.S204F			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	334					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.S307F(1)|p.S224F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGGTCTCTCCTTACGGGGC	0.488																																						uc011jvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(919-921)TCC>TTC		unc-84 homolog A isoform a							198.0	196.0	197.0					7																	892456		2033	4199	6232	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:892456C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1031C>T	7.37:g.892456C>T	ENSP00000384116:p.Ser344Phe					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.S224F|SUN1_uc011jvq.1_Missense_Mutation_p.S204F|SUN1_uc003sjg.2_Missense_Mutation_p.S212F|SUN1_uc011jvr.1_Missense_Mutation_p.S116F|SUN1_uc003sji.2_Missense_Mutation_p.S145F|SUN1_uc003sjk.2_5'UTR	p.S307F	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			10	999	+			334			Helical.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.920C>T		.	.	.	.	.	.	.	.	.	.	C	6.371	0.436607	0.12104	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.23950	2.18;2.2;2.25;2.21;2.21;2.2;1.89;1.88	5.4	1.13	0.20643	.	0.754711	0.13360	N	0.393721	T	0.23688	0.0573	L	0.50333	1.59	0.09310	N	1	P;P;P;P;P;P	0.47677	0.594;0.504;0.837;0.65;0.837;0.899	B;B;B;B;B;P	0.49502	0.14;0.256;0.408;0.256;0.408;0.613	T	0.11916	-1.0568	10	0.10111	T	0.7	-7.6395	4.05	0.09791	0.3851:0.4093:0.1259:0.0796	.	116;204;307;496;334;224	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	F	496;224;204;344;307;334;224;232;116	ENSP00000388743:S496F;ENSP00000374225:S224F;ENSP00000413439:S204F;ENSP00000384116:S344F;ENSP00000384015:S307F;ENSP00000392309:S224F;ENSP00000409909:S232F;ENSP00000389313:S116F	ENSP00000297445:S334F	S	+	2	0	SUN1	858982	0.005000	0.15991	0.000000	0.03702	0.268000	0.26511	0.449000	0.21744	0.299000	0.22661	0.563000	0.77884	TCC		PASS	0.488	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		34	73	34	73	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1513866	1513866	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:1513866A>T	ENST00000404767.3	-	41	5852	c.5767T>A	c.(5767-5769)Ttc>Atc	p.F1923I	INTS1_ENST00000389470.4_Missense_Mutation_p.F2127I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1923					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.F2127I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCGCTGCGGAACACGTGCGGC	0.687											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5767-5769)TTC>ATC		integrator complex subunit 1							19.0	27.0	25.0					7																	1513866		2120	4221	6341	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1513866A>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5767T>A	7.37:g.1513866A>T	ENSP00000385722:p.Phe1923Ile		OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596	INTS1_uc003skm.1_Missense_Mutation_p.F60I	p.F1923I	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	41	5868	-		Ovarian(82;0.0253)	1923					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5767T>A	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765178	0.90020	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66460	-0.21;-0.21	4.5	4.5	0.54988	.	0.045134	0.85682	D	0.000000	T	0.81054	0.4743	M	0.78456	2.415	0.58432	D	0.999996	D	0.76494	0.999	D	0.77004	0.989	D	0.84058	0.0373	10	0.87932	D	0	.	13.9492	0.64106	1.0:0.0:0.0:0.0	.	1923	Q8N201	INT1_HUMAN	I	1923;2127	ENSP00000385722:F1923I;ENSP00000374121:F2127I	ENSP00000374121:F2127I	F	-	1	0	INTS1	1480392	1.000000	0.71417	0.815000	0.32552	0.927000	0.56198	8.669000	0.91163	1.903000	0.55091	0.459000	0.35465	TTC		PASS	0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			6	9	6	9	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2257622	2257622	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:2257622C>T	ENST00000406869.1	-	7	1210	c.653G>A	c.(652-654)aGa>aAa	p.R218K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R218K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R218K|MAD1L1_ENST00000486340.1_5'Flank|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R126K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	218					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.R218K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTCTGCTCTTGCTTCTTG	0.517																																						uc003slh.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(652-654)AGA>AAA		MAD1-like 1 protein							256.0	277.0	270.0					7																	2257622		2128	4235	6363	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2257622C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.653G>A	7.37:g.2257622C>T	ENSP00000385334:p.Arg218Lys					MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Missense_Mutation_p.R218K|MAD1L1_uc003slg.1_Missense_Mutation_p.R218K|MAD1L1_uc010ksh.1_Missense_Mutation_p.R218K|MAD1L1_uc003sli.1_Missense_Mutation_p.R126K|MAD1L1_uc010ksi.1_Missense_Mutation_p.R171K|MAD1L1_uc010ksj.2_Missense_Mutation_p.R218K	p.R218K	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	7	919	-		Ovarian(82;0.0272)	218			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.653G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878590	0.02550	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.4	2.17	0.27698	.	0.448728	0.25159	N	0.032699	T	0.14313	0.0346	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.002;0.003	T	0.20042	-1.0287	10	0.24483	T	0.36	-11.657	3.6085	0.08052	0.2971:0.4695:0.0:0.2333	.	147;218;126;218	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	K	126;218;218;218;95;147	ENSP00000384155:R126K;ENSP00000382562:R218K;ENSP00000385334:R218K;ENSP00000265854:R218K;ENSP00000401901:R95K;ENSP00000413139:R147K	ENSP00000265854:R218K	R	-	2	0	MAD1L1	2224148	0.001000	0.12720	0.001000	0.08648	0.529000	0.34654	0.406000	0.21032	0.607000	0.29982	0.561000	0.74099	AGA		PASS	0.517	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		18	31	18	31	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2275170	2275170	+	5'Flank	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:2275170C>T	ENST00000406869.1	-	0	0				FTSJ2_ENST00000407040.1_Missense_Mutation_p.G16R|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000242257.8_Missense_Mutation_p.G110R|FTSJ2_ENST00000440306.2_Silent_p.L144L|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|MAD1L1_ENST00000402746.1_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.G110R(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGATCTACCCCAAGCACGAAG	0.453																																						uc003slm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)GGG>AGG		FtsJ homolog 2							53.0	52.0	52.0					7																	2275170		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2275170C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275170C>T	Exception_encountered					MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR	p.G110R	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	357	-		Ovarian(82;0.0253)	110					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.328G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137505	0.94517	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.59364	0.27;0.27	5.47	5.47	0.80525	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90574	0.4524	10	0.87932	D	0	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	110	Q9UI43	RRMJ2_HUMAN	R	110;16	ENSP00000242257:G110R;ENSP00000384423:G16R	ENSP00000242257:G110R	G	-	1	0	FTSJ2	2241696	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.348000	0.79366	2.565000	0.86533	0.655000	0.94253	GGG		PASS	0.453	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		15	36	15	36	---	---	---	---
BRAT1	221927	broad.mit.edu	37	7	2580984	2580984	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:2580984G>A	ENST00000340611.4	-	9	1525	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	423					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.V423V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCTGGACCCGGACGCAGCCCG	0.682																																						uc003smi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1267-1269)GTC>GTT		hypothetical protein LOC221927 precursor							20.0	20.0	20.0					7																	2580984		2202	4299	6501	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2580984G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1269C>T	7.37:g.2580984G>A						C7orf27_uc003smh.3_5'UTR	p.V423V	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)	9	1311	-		Ovarian(82;0.0779)	423					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.1269C>T	CCDS5334.1																																																																																				PASS	0.682	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		4	8	4	8	---	---	---	---
IQCE	23288	broad.mit.edu	37	7	2646835	2646835	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:2646835C>T	ENST00000402050.2	+	21	2127	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	IQCE_ENST00000325979.7_Missense_Mutation_p.S583F|IQCE_ENST00000438376.2_Missense_Mutation_p.S632F|IQCE_ENST00000404984.1_Missense_Mutation_p.S597F	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	648						mitochondrion (GO:0005739)		p.S648F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GACGCCTCCTCCCCACCCTTC	0.557																																						uc003smo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1942-1944)TCC>TTC		IQ motif containing E isoform 1							76.0	85.0	82.0					7																	2646835		1945	4137	6082	SO:0001583	missense	23288							g.chr7:2646835C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1943C>T	7.37:g.2646835C>T	ENSP00000385597:p.Ser648Phe					IQCE_uc003sml.1_Missense_Mutation_p.S648F|IQCE_uc011jvy.1_Missense_Mutation_p.S632F|IQCE_uc011jvz.1_Missense_Mutation_p.S583F|IQCE_uc003smk.3_Missense_Mutation_p.S632F|IQCE_uc003smn.3_Missense_Mutation_p.S583F	p.S648F	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	21	2127	+		Ovarian(82;0.0112)	648					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.1943C>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698380	0.30142	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.29142	2.6;2.6;2.6;2.61;1.58	5.0	2.21	0.28008	.	0.477234	0.17742	N	0.163527	T	0.26810	0.0656	L	0.48642	1.525	0.09310	N	1	P;B;B;B;P	0.37423	0.594;0.451;0.451;0.451;0.587	B;B;B;B;B	0.39419	0.259;0.157;0.157;0.157;0.299	T	0.10428	-1.0630	10	0.51188	T	0.08	-1.4301	7.5049	0.27538	0.0:0.7239:0.0:0.2761	.	583;632;648;648;632	B4DXN1;B4DDX4;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;IQCE_HUMAN;.;.	F	648;597;632;583;228	ENSP00000385597:S648F;ENSP00000385945:S597F;ENSP00000396178:S632F;ENSP00000313772:S583F;ENSP00000405982:S228F	ENSP00000313772:S583F	S	+	2	0	IQCE	2613361	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	0.722000	0.25925	0.241000	0.21283	-0.137000	0.14449	TCC		PASS	0.557	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		17	29	17	29	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2977615	2977616	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:2977615_2977616CC>TT	ENST00000396946.4	-	8	1471_1472	c.1068_1069GG>AA	c.(1066-1071)aaGGac>aaAAac	p.D357N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	357					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.D350N(2)|p.K349K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATTTCACAGTCCTTTCCCAGGG	0.564			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(1069-1071)GAC>AAC|c.(1066-1068)AAG>AAA		caspase recruitment domain family, member 11																																				SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2977615C>T|g.chr7:2977616C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1068_1069delinsTT	7.37:g.2977615_2977616delinsTT	ENSP00000380150:p.Asp357Asn						p.D357N|p.K356K	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	8	1473|1472	-		Ovarian(82;0.0115)	357|356			Potential.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation|Silent	SNP	ENST00000396946.4	37	c.1069G>A|c.1068G>A	CCDS5336.2																																																																																				PASS	0.564	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		21|22	28|29	21	28	---	---	---	---
RNF216	54476	broad.mit.edu	37	7	5769095	5769095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:5769095C>A	ENST00000425013.2	-	7	1410	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	RNF216_ENST00000389902.3_Nonsense_Mutation_p.E453*	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	396					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E453*(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCTTTGAGCTCGTGCAGGGCC	0.512																																						uc003soy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(2)	5						c.(1186-1188)GAG>TAG		ring finger protein 216 isoform b							148.0	132.0	138.0					7																	5769095		2203	4300	6503	SO:0001587	stop_gained	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5769095C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1186G>T	7.37:g.5769095C>A	ENSP00000404602:p.Glu396*					RNF216_uc010ksz.1_Nonsense_Mutation_p.E18*|RNF216_uc010kta.1_Nonsense_Mutation_p.E18*|RNF216_uc011jwj.1_Nonsense_Mutation_p.E18*|RNF216_uc003sox.1_Nonsense_Mutation_p.E453*	p.E396*	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	7	1376	-		Ovarian(82;0.07)	396					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Nonsense_Mutation	SNP	ENST00000425013.2	37	c.1186G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	39	7.531012	0.98342	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.407	18.9132	0.92494	0.0:1.0:0.0:0.0	.	.	.	.	X	396;453;208	.	ENSP00000374552:E453X	E	-	1	0	RNF216	5735621	0.994000	0.37717	0.977000	0.42913	0.985000	0.73830	3.204000	0.51082	2.783000	0.95769	0.655000	0.94253	GAG		PASS	0.512	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		26	58	26	58	---	---	---	---
AIMP2	7965	broad.mit.edu	37	7	6057569	6057569	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:6057569C>T	ENST00000223029.3	+	3	586	c.467C>T	c.(466-468)tCc>tTc	p.S156F	AIMP2_ENST00000400479.2_Missense_Mutation_p.S78F|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000395236.2_Missense_Mutation_p.S87F	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	156	Interaction with PARK2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S156F(1)		large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CACACGCACTCCTCGGTCAAG	0.547																																						uc003spo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)TCC>TTC		aminoacyl tRNA synthetase complex-interacting							76.0	60.0	66.0					7																	6057569		2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6057569C>T	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.467C>T	7.37:g.6057569C>T	ENSP00000223029:p.Ser156Phe						p.S156F	NM_006303	NP_006294	Q13155	AIMP2_HUMAN			3	580	+			156			Interaction with PARK2.		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.467C>T	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154020	0.78114	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.75050	-0.9;-0.68;-0.4	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88804	0.3287	10	0.87932	D	0	-17.8751	20.0953	0.97838	0.0:1.0:0.0:0.0	.	156	Q13155	AIMP2_HUMAN	F	156;78;87	ENSP00000223029:S156F;ENSP00000383327:S78F;ENSP00000378658:S87F	ENSP00000223029:S156F	S	+	2	0	AIMP2	6024095	1.000000	0.71417	0.156000	0.22583	0.406000	0.30931	7.752000	0.85141	2.767000	0.95098	0.655000	0.94253	TCC		PASS	0.547	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		8	23	8	23	---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6217551	6217551	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:6217551T>A	ENST00000350796.3	-	5	407	c.271A>T	c.(271-273)Aat>Tat	p.N91Y	Y_RNA_ENST00000458975.1_RNA	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	91	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.N91Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGCAGGTCATTTTCTATTAGA	0.418																																						uc003spt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)AAT>TAT		cytohesin 3							93.0	91.0	92.0					7																	6217551		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6217551T>A	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.271A>T	7.37:g.6217551T>A	ENSP00000297044:p.Asn91Tyr						p.N91Y	NM_004227	NP_004218	O43739	CYH3_HUMAN			5	375	-			91			SEC7.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.271A>T	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637874	0.67130	.	.	ENSG00000008256	ENST00000350796	T	0.56444	0.46	5.16	5.16	0.70880	.	0.043074	0.85682	D	0.000000	T	0.58609	0.2134	M	0.89095	3.005	0.80722	D	1	P	0.48694	0.914	B	0.37451	0.25	T	0.72057	-0.4405	10	0.87932	D	0	.	15.3066	0.73995	0.0:0.0:0.0:1.0	.	91	O43739-2	.	Y	91	ENSP00000297044:N91Y	ENSP00000297044:N91Y	N	-	1	0	CYTH3	6184076	1.000000	0.71417	0.710000	0.30468	0.930000	0.56654	6.109000	0.71528	2.070000	0.61991	0.533000	0.62120	AAT		PASS	0.418	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		21	45	21	45	---	---	---	---
FAM220A	84792	broad.mit.edu	37	7	6370351	6370351	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:6370351G>A	ENST00000313324.4	-	2	902	c.435C>T	c.(433-435)tgC>tgT	p.C145C	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	145						nucleus (GO:0005634)		p.C145C(1)									CTCCTTTGGGGCACTGTCCTC	0.602																																						uc003spu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(433-435)TGC>TGT		hypothetical protein LOC84792							40.0	44.0	43.0					7																	6370351		2203	4300	6503	SO:0001819	synonymous_variant	84792					nucleus		g.chr7:6370351G>A	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.435C>T	7.37:g.6370351G>A							p.C145C	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN			2	903	-			145					Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	ENST00000313324.4	37	c.435C>T	CCDS34599.1																																																																																				PASS	0.602	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		10	14	10	14	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7484115	7484115	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:7484115C>T	ENST00000399429.3	-	19	1655	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	505	Collagen-like 4.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E505E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGCCTGGCTCTCCCTGGT	0.448																																						uc003src.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1513-1515)GAG>GAA		collagen, type XXVIII precursor							129.0	125.0	126.0					7																	7484115		1910	4127	6037	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7484115C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1515G>A	7.37:g.7484115C>T						COL28A1_uc011jxe.1_Silent_p.E188E|COL28A1_uc003srd.2_Silent_p.E60E	p.E505E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	19	1632	-		Ovarian(82;0.0789)	505			Collagen-like 4.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.1515G>A	CCDS43553.1																																																																																				PASS	0.448	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		12	37	12	37	---	---	---	---
NXPH1	30010	broad.mit.edu	37	7	8790773	8790773	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:8790773C>T	ENST00000405863.1	+	3	1101	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	64	II.					extracellular region (GO:0005576)		p.R64S(1)|p.R64C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAGACTTTTCGTGGCAAAGA	0.463																																						uc003srv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(190-192)CGT>TGT		neurexophilin 1 precursor							63.0	63.0	63.0					7																	8790773		1953	4148	6101	SO:0001583	missense	30010					extracellular region		g.chr7:8790773C>T	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.190C>T	7.37:g.8790773C>T	ENSP00000384551:p.Arg64Cys					NXPH1_uc011jxh.1_5'UTR	p.R64C	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1101	+		Ovarian(82;0.0628)	64			II.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.190C>T	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132646	0.56828	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	6.07	0.98685	.	0.147939	0.64402	D	0.000006	T	0.37865	0.1019	N	0.08118	0	0.80722	D	1	P	0.50710	0.938	B	0.41202	0.35	T	0.32719	-0.9896	9	0.38643	T	0.18	-10.6286	20.6593	0.99626	0.0:1.0:0.0:0.0	.	64	P58417	NXPH1_HUMAN	C	64	.	ENSP00000384551:R64C	R	+	1	0	NXPH1	8757298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.461000	0.80834	2.885000	0.99019	0.655000	0.94253	CGT		PASS	0.463	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		23	59	23	59	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11521444	11521444	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:11521444C>T	ENST00000423059.4	-	7	2239	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	663	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R663Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGAATGGATCGTGCTCGTAT	0.517										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1987-1989)CGA>CAA		thrombospondin, type I, domain containing 7A							129.0	127.0	128.0					7																	11521444		2145	4248	6393	SO:0001583	missense	221981					integral to membrane		g.chr7:11521444C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1988G>A	7.37:g.11521444C>T	ENSP00000406482:p.Arg663Gln	HNSCC(18;0.044)					p.R663Q	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2240	-			663			TSP type-1 6.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.1988G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992501	0.97179	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.64803	-0.12	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93050	0.6465	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	663	Q9UPZ6	THS7A_HUMAN	Q	663	ENSP00000406482:R663Q	ENSP00000262042:R663Q	R	-	2	0	THSD7A	11487969	1.000000	0.71417	0.584000	0.28653	0.966000	0.64601	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		15	45	15	45	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11630129	11630129	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:11630129C>T	ENST00000423059.4	-	4	1662	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	471	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E471K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGAGGTTTTCGTTGGCCTGC	0.522										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1411-1413)GAA>AAA		thrombospondin, type I, domain containing 7A							87.0	92.0	90.0					7																	11630129		1943	4144	6087	SO:0001583	missense	221981					integral to membrane		g.chr7:11630129C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1411G>A	7.37:g.11630129C>T	ENSP00000406482:p.Glu471Lys	HNSCC(18;0.044)					p.E471K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1663	-			471			Extracellular (Potential).|TSP type-1 4.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1411G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883564	0.33255	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60548	0.18	5.8	3.88	0.44766	.	0.728785	0.14941	N	0.289512	T	0.50309	0.1608	L	0.46157	1.445	0.09310	N	1	B	0.27316	0.175	B	0.20577	0.03	T	0.34153	-0.9840	10	0.23891	T	0.37	.	15.9716	0.80025	0.0:0.7453:0.2547:0.0	.	471	Q9UPZ6	THS7A_HUMAN	K	471	ENSP00000406482:E471K	ENSP00000262042:E471K	E	-	1	0	THSD7A	11596654	0.003000	0.15002	0.004000	0.12327	0.082000	0.17680	0.878000	0.28126	1.444000	0.47605	-0.175000	0.13238	GAA		PASS	0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		17	40	17	40	---	---	---	---
MEOX2	4223	broad.mit.edu	37	7	15725862	15725862	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:15725862C>T	ENST00000262041.5	-	1	575	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	56					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.E56K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATGCCCTCTTCGTTGGGGTAT	0.572																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)|central_nervous_system(1)	2						c.(166-168)GAA>AAA		mesenchyme homeobox 2							54.0	49.0	51.0					7																	15725862		2203	4300	6503	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725862C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.166G>A	7.37:g.15725862C>T	ENSP00000262041:p.Glu56Lys					MEOX2_uc011jxw.1_Missense_Mutation_p.E56K	p.E56K	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	447	-			56					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.166G>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634948	0.67130	.	.	ENSG00000106511	ENST00000262041	D	0.89617	-2.54	4.88	4.88	0.63580	.	0.052246	0.85682	D	0.000000	D	0.84000	0.5376	L	0.59436	1.845	0.58432	D	0.999999	P	0.41393	0.748	B	0.27380	0.079	D	0.83520	0.0085	10	0.18276	T	0.48	-19.012	18.4725	0.90779	0.0:1.0:0.0:0.0	.	56	P50222	MEOX2_HUMAN	K	56	ENSP00000262041:E56K	ENSP00000262041:E56K	E	-	1	0	MEOX2	15692387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.897000	0.75671	2.424000	0.82194	0.650000	0.86243	GAA		PASS	0.572	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		4	15	4	15	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18684330	18684330	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:18684330G>T	ENST00000432645.2	+	8	940	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	HDAC9_ENST00000524023.1_Missense_Mutation_p.D237Y|HDAC9_ENST00000406451.4_Missense_Mutation_p.D314Y|HDAC9_ENST00000405010.3_Missense_Mutation_p.D314Y|HDAC9_ENST00000456174.2_Missense_Mutation_p.D286Y|HDAC9_ENST00000406072.1_Missense_Mutation_p.D301Y|HDAC9_ENST00000428307.2_Missense_Mutation_p.D270Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D317Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D273Y|HDAC9_ENST00000417496.2_Missense_Mutation_p.D312Y	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	314	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D317Y(2)|p.D314Y(1)|p.D312Y(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATTCATGAAGATTCCATGAA	0.403																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(940-942)GAT>TAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						119.0	109.0	112.0					7																	18684330		1876	4100	5976	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18684330G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.940G>T	7.37:g.18684330G>T	ENSP00000410337:p.Asp314Tyr					HDAC9_uc003sue.2_Missense_Mutation_p.D314Y|HDAC9_uc011jyd.1_Missense_Mutation_p.D314Y|HDAC9_uc003sui.2_Missense_Mutation_p.D317Y|HDAC9_uc003suj.2_Missense_Mutation_p.D273Y|HDAC9_uc011jya.1_Missense_Mutation_p.D311Y|HDAC9_uc003sua.1_Missense_Mutation_p.D292Y|HDAC9_uc011jyb.1_Missense_Mutation_p.D270Y|HDAC9_uc003sud.1_Missense_Mutation_p.D314Y|HDAC9_uc011jyc.1_Missense_Mutation_p.D273Y|HDAC9_uc003suf.1_Missense_Mutation_p.D345Y|HDAC9_uc010kud.1_Missense_Mutation_p.D317Y|HDAC9_uc011jye.1_Missense_Mutation_p.D286Y|HDAC9_uc011jyf.1_Missense_Mutation_p.D237Y|HDAC9_uc010kue.1_Missense_Mutation_p.D57Y	p.D314Y	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			8	981	+	all_lung(11;0.187)		314			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.940G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881335	0.72294	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.58506	0.89;0.92;0.34;0.9;0.9;0.33;0.34;0.34;0.92;0.89	5.74	5.74	0.90152	.	0.293633	0.29486	N	0.012019	T	0.60353	0.2262	N	0.22421	0.69	0.39185	D	0.962854	P;P;P;P;P;D;P;D;P;P;P;P;P;D	0.67145	0.679;0.614;0.785;0.878;0.679;0.969;0.924;0.995;0.904;0.802;0.828;0.904;0.875;0.996	B;B;P;B;B;P;B;P;P;B;B;P;B;P	0.61201	0.087;0.163;0.465;0.26;0.365;0.66;0.34;0.885;0.461;0.26;0.34;0.461;0.309;0.823	T	0.65713	-0.6101	10	0.87932	D	0	-16.5265	13.1589	0.59533	0.0728:0.0:0.9272:0.0	.	237;286;314;301;312;314;317;273;317;314;286;314;314;292	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	Y	312;315;314;314;270;301;273;314;317;286;237;314	ENSP00000401669:D312Y;ENSP00000384382:D314Y;ENSP00000384657:D314Y;ENSP00000395655:D270Y;ENSP00000384017:D301Y;ENSP00000383912:D273Y;ENSP00000410337:D314Y;ENSP00000408617:D317Y;ENSP00000388568:D286Y;ENSP00000430036:D237Y	ENSP00000262069:D315Y	D	+	1	0	HDAC9	18650855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.256000	0.72473	2.707000	0.92482	0.655000	0.94253	GAT		PASS	0.403	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			16	35	16	35	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18875092	18875092	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:18875092T>G	ENST00000432645.2	+	19	2460	c.2460T>G	c.(2458-2460)gaT>gaG	p.D820E	HDAC9_ENST00000406451.4_Missense_Mutation_p.D820E|HDAC9_ENST00000441542.2_Missense_Mutation_p.D823E|HDAC9_ENST00000401921.1_Missense_Mutation_p.D779E	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	820	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.D823E(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGTAGGATGTTCACCATG	0.448																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2458-2460)GAT>GAG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						60.0	59.0	59.0					7																	18875092		2142	4280	6422	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18875092T>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2460T>G	7.37:g.18875092T>G	ENSP00000410337:p.Asp820Glu					HDAC9_uc003sue.2_Missense_Mutation_p.D820E|HDAC9_uc011jyd.1_Missense_Mutation_p.D820E|HDAC9_uc003sui.2_Missense_Mutation_p.D823E|HDAC9_uc003suj.2_Missense_Mutation_p.D779E|HDAC9_uc003suk.2_Missense_Mutation_p.D68E	p.D820E	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			19	2501	+	all_lung(11;0.187)		820			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2460T>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102215	0.56183	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.81	2.03	0.26663	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000006	D	0.98466	0.9489	H	0.99903	4.92	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.99;0.99;0.984;0.99	D;D;P;P;P;P	0.91635	0.999;0.999;0.797;0.797;0.872;0.797	D	0.96623	0.9461	10	0.87932	D	0	-40.8057	9.4941	0.38978	0.0:0.2082:0.0:0.7918	.	820;68;779;823;820;820	Q9UKV0-4;Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;.;HDAC9_HUMAN;.	E	820;779;820;823;732	ENSP00000384657:D820E;ENSP00000383912:D779E;ENSP00000410337:D820E;ENSP00000408617:D823E	ENSP00000339165:D732E	D	+	3	2	HDAC9	18841617	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.867000	0.39499	0.450000	0.26774	0.533000	0.62120	GAT		PASS	0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			8	20	8	20	---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20418838	20418838	+	Missense_Mutation	SNP	C	C	T	rs267601448		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:20418838C>T	ENST00000222573.4	+	4	1237	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	ITGB8_ENST00000537992.1_Missense_Mutation_p.R50C|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	185	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.R185C(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CCGTGACTTTCGTCTTGGATT	0.363																																						uc003suu.2																			4	Substitution - Missense(4)		lung(2)|skin(2)	skin(3)	3						c.(553-555)CGT>TGT		integrin, beta 8 precursor							109.0	109.0	109.0					7																	20418838		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418838C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.553C>T	7.37:g.20418838C>T	ENSP00000222573:p.Arg185Cys					ITGB8_uc011jyh.1_Missense_Mutation_p.R50C|ITGB8_uc003sut.2_Missense_Mutation_p.R185C	p.R185C	NM_002214	NP_002205	P26012	ITB8_HUMAN			4	1258	+			185			VWFA.|Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.553C>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637138	0.67130	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.98762	-5.12;-5.12	5.82	5.82	0.92795	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.083285	0.52532	D	0.000080	D	0.99230	0.9732	M	0.89785	3.06	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.982;0.986	D	0.99153	1.0859	10	0.87932	D	0	-19.3314	14.883	0.70547	0.1434:0.8566:0.0:0.0	.	185;185	P26012;Q9BUG9	ITB8_HUMAN;.	C	50;185	ENSP00000441561:R50C;ENSP00000222573:R185C	ENSP00000222573:R185C	R	+	1	0	ITGB8	20385363	0.994000	0.37717	1.000000	0.80357	0.774000	0.43823	1.712000	0.37940	2.746000	0.94184	0.650000	0.86243	CGT		PASS	0.363	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		17	24	17	24	---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:20683155C>T	ENST00000404938.2	+	7	1230	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	193	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423																																						uc010kuh.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(577-579)TCG>TTG		ATP-binding cassette, sub-family B, member 5							188.0	164.0	171.0					7																	20683155		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20683155C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.578C>T	7.37:g.20683155C>T	ENSP00000384881:p.Ser193Leu						p.S193L	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN			7	815	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.578C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.313724	0.01331	.	.	ENSG00000004846	ENST00000404938	D	0.86769	-2.17	3.85	2.05	0.26809	.	.	.	.	.	T	0.67040	0.2851	N	0.04636	-0.2	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.53027	-0.8496	9	0.14656	T	0.56	.	5.7219	0.17992	0.0:0.6658:0.0:0.3342	.	193	A7BKA4	.	L	193	ENSP00000384881:S193L	ENSP00000384881:S193L	S	+	2	0	ABCB5	20649680	0.656000	0.27385	0.525000	0.27900	0.121000	0.20230	2.809000	0.47971	0.601000	0.29879	-0.244000	0.11960	TCG		PASS	0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		40	61	40	61	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21778373	21778373	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:21778373G>A	ENST00000409508.3	+	47	7731	c.7700G>A	c.(7699-7701)gGa>gAa	p.G2567E	DNAH11_ENST00000328843.6_Missense_Mutation_p.G2574E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2574	AAA 3. {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.G2574E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTCCTGGAGGAAATAAAAAA	0.383									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7720-7722)GGA>GAA		dynein, axonemal, heavy chain 11							50.0	51.0	50.0					7																	21778373		2023	4198	6221	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21778373G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7700G>A	7.37:g.21778373G>A	ENSP00000475939:p.Gly2567Glu						p.G2574E	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			48	7752	+			2574			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7721G>A		.	.	.	.	.	.	.	.	.	.	G	14.51	2.556054	0.45487	.	.	ENSG00000105877	ENST00000328843	T	0.52295	0.67	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.104089	0.64402	D	0.000005	T	0.67287	0.2877	.	.	.	0.48452	D	0.99965	D	0.71674	0.998	D	0.74348	0.983	T	0.69135	-0.5225	9	0.59425	D	0.04	.	13.8476	0.63477	0.0757:0.0:0.9243:0.0	.	2574	Q96DT5	DYH11_HUMAN	E	2574	ENSP00000330671:G2574E	ENSP00000330671:G2574E	G	+	2	0	DNAH11	21744898	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	4.251000	0.58778	2.689000	0.91719	0.655000	0.94253	GGA		PASS	0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	6	4	6	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29438081	29438081	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:29438081G>A	ENST00000222792.6	+	5	799	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.G165E|CHN2_ENST00000546235.1_Missense_Mutation_p.G75E|CHN2_ENST00000495789.2_Missense_Mutation_p.G103E|CHN2_ENST00000435288.2_Missense_Mutation_p.G90E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	90	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.G90E(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CGGCAACCAGGATGCTACACG	0.507																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(268-270)GGA>GAA		beta chimerin isoform 2							123.0	101.0	109.0					7																	29438081		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29438081G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.269G>A	7.37:g.29438081G>A	ENSP00000222792:p.Gly90Glu					CHN2_uc011jzs.1_Missense_Mutation_p.G165E|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.G55E|CHN2_uc011jzt.1_Missense_Mutation_p.G103E|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.G75E	p.G90E	NM_004067	NP_004058	P52757	CHIO_HUMAN			5	706	+			90			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.269G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152044	0.94645	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.44	5.44	0.79542	SH2 motif (4);	0.155353	0.64402	D	0.000020	D	0.97876	0.9302	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.995;0.999;1.0;0.999;0.999	D	0.98821	1.0747	10	0.72032	D	0.01	.	18.8374	0.92168	0.0:0.0:1.0:0.0	.	75;103;165;90;90	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	E	165;165;90;90;103;103;75	ENSP00000409843:G165E;ENSP00000444063:G165E;ENSP00000222792:G90E;ENSP00000400282:G90E;ENSP00000386968:G103E;ENSP00000438587:G103E;ENSP00000442812:G75E	ENSP00000222792:G90E	G	+	2	0	CHN2	29404606	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.334000	0.79224	2.553000	0.86117	0.467000	0.42956	GGA		PASS	0.507	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		14	30	14	30	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29539651	29539651	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:29539651C>T	ENST00000222792.6	+	9	1438	c.908C>T	c.(907-909)gCa>gTa	p.A303V	CHN2_ENST00000439711.2_Missense_Mutation_p.A167V|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000424025.2_Missense_Mutation_p.A122V|CHN2_ENST00000539389.1_Missense_Mutation_p.A159V|CHN2_ENST00000539406.1_Missense_Mutation_p.A378V|CHN2_ENST00000546235.1_Missense_Mutation_p.A288V|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000409041.4_Missense_Mutation_p.A167V|CHN2_ENST00000495789.2_Missense_Mutation_p.A316V|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	303	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.A303V(1)|p.A167V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAAATTGAAGCAAGAGGTTTG	0.373																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(907-909)GCA>GTA		beta chimerin isoform 2							62.0	56.0	58.0					7																	29539651		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539651C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.908C>T	7.37:g.29539651C>T	ENSP00000222792:p.Ala303Val					CHN2_uc011jzs.1_Missense_Mutation_p.A378V|CHN2_uc010kva.2_Missense_Mutation_p.A73V|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.A268V|CHN2_uc011jzt.1_Missense_Mutation_p.A316V|CHN2_uc010kvd.2_Missense_Mutation_p.A159V|CHN2_uc011jzu.1_Missense_Mutation_p.A288V|CHN2_uc010kvg.2_Missense_Mutation_p.A167V|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.A167V|CHN2_uc010kve.2_Missense_Mutation_p.A167V|CHN2_uc003taa.2_Missense_Mutation_p.A167V|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.A122V|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.A122V|CHN2_uc011jzv.1_Missense_Mutation_p.A96V	p.A303V	NM_004067	NP_004058	P52757	CHIO_HUMAN			9	1345	+			303			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.908C>T	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370274	0.42003	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711	T;T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.6	3.64	0.41730	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.346469	0.35096	N	0.003450	T	0.16854	0.0405	L	0.49256	1.55	0.80722	D	1	B;B;B;P;B;B;P;B;B;B;B;B;B;B	0.51449	0.121;0.011;0.101;0.465;0.126;0.157;0.945;0.131;0.306;0.324;0.042;0.372;0.205;0.042	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36922	0.021;0.063;0.038;0.124;0.056;0.158;0.236;0.071;0.056;0.081;0.038;0.216;0.056;0.038	T	0.03443	-1.1036	10	0.51188	T	0.08	.	10.0641	0.42292	0.234:0.5492:0.2168:0.0	.	96;288;316;378;122;122;167;167;167;159;303;73;167;303	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF7;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	V	378;303;316;159;288;128;167;122;167	ENSP00000444063:A378V;ENSP00000222792:A303V;ENSP00000438587:A316V;ENSP00000440526:A159V;ENSP00000442812:A288V;ENSP00000396867:A128V;ENSP00000386849:A167V;ENSP00000406337:A122V;ENSP00000387425:A167V	ENSP00000222792:A303V	A	+	2	0	CHN2	29506176	0.597000	0.26874	1.000000	0.80357	0.935000	0.57460	0.964000	0.29306	1.440000	0.47531	0.455000	0.32223	GCA		PASS	0.373	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		7	17	7	17	---	---	---	---
WIPF3	644150	broad.mit.edu	37	7	29918688	29918688	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:29918688C>T	ENST00000409290.1	+	3	287	c.287C>T	c.(286-288)cCc>cTc	p.P96L	WIPF3_ENST00000409123.1_Missense_Mutation_p.P96L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P96L	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	96					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.P96L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGCACACCTCCCACCCTGGGA	0.517																																						uc003taj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)CCC>CTC		WAS/WASL interacting protein family, member 3							68.0	71.0	70.0					7																	29918688		1970	4160	6130	SO:0001583	missense	644150							g.chr7:29918688C>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.287C>T	7.37:g.29918688C>T	ENSP00000386878:p.Pro96Leu						p.P96L	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			3	287	+			96					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.287C>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.570049	0.28003	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.53640	0.61;0.63;0.61	5.4	3.46	0.39613	.	0.085204	0.45126	D	0.000398	T	0.44932	0.1317	M	0.79926	2.475	0.47009	D	0.999288	B	0.24618	0.107	B	0.18263	0.021	T	0.49214	-0.8963	10	0.48119	T	0.1	.	5.9044	0.18984	0.2015:0.7023:0.0:0.0961	.	96	A6NGB9	WIPF3_HUMAN	L	96	ENSP00000386790:P96L;ENSP00000386878:P96L;ENSP00000242140:P96L	ENSP00000242140:P96L	P	+	2	0	WIPF3	29885213	0.844000	0.29557	0.991000	0.47740	0.064000	0.16182	0.890000	0.28295	1.506000	0.48736	0.551000	0.68910	CCC		PASS	0.517	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			13	7	13	7	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30831042	30831042	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:30831042C>T	ENST00000265299.6	+	5	1002	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	309								p.P309S(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCGAGGGATCCCTCCGAGGA	0.612																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)CCC>TCC		hypothetical protein LOC84182							51.0	64.0	59.0					7																	30831042		2028	4176	6204	SO:0001583	missense	84182							g.chr7:30831042C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.925C>T	7.37:g.30831042C>T	ENSP00000265299:p.Pro309Ser					FAM188B_uc010kwe.2_Missense_Mutation_p.P280S	p.P309S	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			5	1002	+			309					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.925C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598112	0.28445	.	.	ENSG00000106125	ENST00000265299	T	0.03035	4.07	4.55	-1.05	0.10036	.	1.584610	0.03335	N	0.193995	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.45977	-0.9224	10	0.87932	D	0	-1.9961	2.046	0.03561	0.3529:0.262:0.2847:0.1004	.	309	Q4G0A6	F188B_HUMAN	S	309	ENSP00000265299:P309S	ENSP00000265299:P309S	P	+	1	0	FAM188B	30797567	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.239000	0.08965	-0.060000	0.13132	0.563000	0.77884	CCC		PASS	0.612	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		9	12	9	12	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31132350	31132350	+	Splice_Site	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:31132350G>C	ENST00000304166.4	+	13	1335		c.e13+1		ADCYAP1R1_ENST00000396211.2_Splice_Site|ADCYAP1R1_ENST00000409363.1_Splice_Site|ADCYAP1R1_ENST00000409489.1_Splice_Site	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I						activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.?(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCATCTACTTGTAAGTACCAT	0.507																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e13+1		adenylate cyclase activating polypeptide 1							80.0	75.0	77.0					7																	31132350		2203	4300	6503	SO:0001630	splice_region_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31132350G>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1046+1G>C	7.37:g.31132350G>C						ADCYAP1R1_uc003tcb.1_Splice_Site_p.L328_splice|ADCYAP1R1_uc003tcc.1_Splice_Site_p.L349_splice|ADCYAP1R1_uc003tcd.1_Splice_Site_p.F349_splice|ADCYAP1R1_uc003tce.1_Splice_Site_p.F349_splice|ADCYAP1R1_uc003tcf.1_Splice_Site_p.L51_splice	p.L349_splice	NM_001118	NP_001109	P41586	PACR_HUMAN			13	1269	+								A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Splice_Site	SNP	ENST00000304166.4	37	c.1046_splice	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567148	0.86439	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489;ENST00000436116	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7518	0.88436	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCYAP1R1	31098875	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.248000	0.95456	2.873000	0.98535	0.563000	0.77884	.		PASS	0.507	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	Intron	10	9	10	9	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31377977	31377977	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:31377977C>T	ENST00000297142.3	-	2	1228	c.906G>A	c.(904-906)caG>caA	p.Q302Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	302					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Q302Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ACATGGCACCCTGCCCAAGGG	0.478																																						uc003tch.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(904-906)CAG>CAA		neurogenic differentiation 6							88.0	87.0	88.0					7																	31377977		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377977C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.906G>A	7.37:g.31377977C>T							p.Q302Q	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1259	-			302					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.906G>A	CCDS5434.1																																																																																				PASS	0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		6	22	6	22	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378752	31378752	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:31378752C>T	ENST00000297142.3	-	2	453	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	44					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R44Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTCTTTCCTCGAAGGACAAT	0.458																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(130-132)CGA>CAA		neurogenic differentiation 6							138.0	144.0	142.0					7																	31378752		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378752C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.131G>A	7.37:g.31378752C>T	ENSP00000297142:p.Arg44Gln						p.R44Q	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	484	-			44					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.131G>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373541	0.24857	.	.	ENSG00000164600	ENST00000297142	D	0.95307	-3.67	5.56	4.67	0.58626	.	0.559752	0.17654	N	0.166595	T	0.81847	0.4909	N	0.02011	-0.69	0.38468	D	0.947402	B	0.06786	0.001	B	0.04013	0.001	T	0.77422	-0.2594	10	0.13470	T	0.59	-18.0422	8.4653	0.32953	0.0:0.7828:0.0:0.2172	.	44	Q96NK8	NDF6_HUMAN	Q	44	ENSP00000297142:R44Q	ENSP00000297142:R44Q	R	-	2	0	NEUROD6	31345277	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.807000	0.47955	2.626000	0.88956	0.650000	0.86243	CGA		PASS	0.458	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		25	58	25	58	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682588	31682588	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:31682588G>A	ENST00000407970.3	+	11	1642	c.1604G>A	c.(1603-1605)aGg>aAg	p.R535K	CCDC129_ENST00000451887.2_Missense_Mutation_p.R561K|CCDC129_ENST00000409210.1_Missense_Mutation_p.R443K|CCDC129_ENST00000319386.3_Missense_Mutation_p.R387K	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	535								p.R387K(1)|p.R535K(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAATGCCCAAGGAAAGACAGC	0.547																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1603-1605)AGG>AAG		coiled-coil domain containing 129							137.0	132.0	133.0					7																	31682588		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682588G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1604G>A	7.37:g.31682588G>A	ENSP00000384416:p.Arg535Lys					CCDC129_uc011kad.1_Missense_Mutation_p.R545K|CCDC129_uc003tci.1_Missense_Mutation_p.R386K|CCDC129_uc011kae.1_Missense_Mutation_p.R561K|CCDC129_uc003tck.1_Missense_Mutation_p.R443K	p.R535K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2597	+			535					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1604G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383264	0.42207	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18810	2.19;2.47;2.46;2.2	5.26	2.35	0.29111	.	1.331420	0.04989	N	0.466953	T	0.27524	0.0676	L	0.60455	1.87	0.09310	N	1	P;P;P;P	0.47910	0.902;0.879;0.879;0.628	B;P;P;B	0.48627	0.194;0.584;0.584;0.194	T	0.11641	-1.0579	10	0.33141	T	0.24	-11.2643	3.3241	0.07061	0.0938:0.1742:0.5518:0.1803	.	561;545;535;387	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	K	387;535;561;545;443	ENSP00000313062:R387K;ENSP00000384416:R535K;ENSP00000395835:R561K;ENSP00000387214:R443K	ENSP00000313062:R387K	R	+	2	0	CCDC129	31649113	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.396000	0.20867	0.555000	0.29079	0.591000	0.81541	AGG		PASS	0.547	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		33	111	33	111	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33427609	33427609	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:33427609G>A	ENST00000242067.6	+	19	2489	c.1968G>A	c.(1966-1968)cgG>cgA	p.R656R	BBS9_ENST00000355070.2_Silent_p.R651R|BBS9_ENST00000350941.3_Silent_p.R616R|BBS9_ENST00000396127.2_Silent_p.R621R|BBS9_ENST00000354265.4_Silent_p.R621R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	656					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R656R(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCAGCTACGGATAAATGGTG	0.318									Bardet-Biedl syndrome																													uc003tdn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1966-1968)CGG>CGA		parathyroid hormone-responsive B1 isoform 2							98.0	108.0	105.0					7																	33427609		2203	4300	6503	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33427609G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1968G>A	7.37:g.33427609G>A						BBS9_uc003tdo.1_Silent_p.R621R|BBS9_uc003tdp.1_Silent_p.R651R|BBS9_uc003tdq.1_Silent_p.R616R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.R180R|BBS9_uc003tds.1_Silent_p.R79R|BBS9_uc003tdt.2_RNA	p.R656R	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		19	2481	+			656					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.1968G>A	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	1.026	-0.683212	0.03353	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.57	3.42	0.39159	.	.	.	.	.	T	0.46444	0.1393	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41395	-0.9511	4	.	.	.	-15.4212	2.9719	0.05925	0.1711:0.1964:0.5034:0.1291	.	.	.	.	N	223	.	.	D	+	1	0	BBS9	33394134	0.701000	0.27806	0.991000	0.47740	0.135000	0.20990	0.425000	0.21346	1.337000	0.45525	0.555000	0.69702	GAT		PASS	0.318	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			28	93	28	93	---	---	---	---
EPDR1	54749	broad.mit.edu	37	7	37988542	37988542	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:37988542C>T	ENST00000199448.4	+	2	749	c.370C>T	c.(370-372)Cct>Tct	p.P124S	EPDR1_ENST00000559325.1_Missense_Mutation_p.P244S|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.P22S|EPDR1_ENST00000425345.1_Missense_Mutation_p.P63S	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	124					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.P244S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GCCCTGGGATCCTCTTGACAT	0.488																																						uc003tfp.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(730-732)CCT>TCT		ependymin related protein 1 precursor							139.0	126.0	130.0					7																	37988542		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988542C>T	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.370C>T	7.37:g.37988542C>T	ENSP00000199448:p.Pro124Ser					EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.P63S	p.P244S	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN			2	749	+			124					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.730C>T	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	C	33	5.207619	0.95033	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	0.98;1.0	P;D	0.97110	0.828;1.0	T	0.81084	-0.1093	9	0.56958	D	0.05	-9.3375	17.7611	0.88465	0.0:1.0:0.0:0.0	.	63;244	C9JYS3;A4D1W8	.;.	S	22;244;63	.	ENSP00000199448:P244S	P	+	1	0	EPDR1	37955067	1.000000	0.71417	0.967000	0.41034	0.936000	0.57629	5.865000	0.69583	2.729000	0.93468	0.655000	0.94253	CCT		PASS	0.488	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		17	52	17	52	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38475876	38475876	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:38475876G>A	ENST00000356264.2	-	12	1345	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F	AMPH_ENST00000428293.2_Missense_Mutation_p.S377F|AMPH_ENST00000325590.5_Missense_Mutation_p.S377F	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	377					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.S377C(1)|p.S377F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGATACCTGAGACATGGGTGA	0.463																																						uc003tgu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|liver(1)|skin(1)	5						c.(1129-1131)TCT>TTT		amphiphysin isoform 1							75.0	70.0	72.0					7																	38475876		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38475876G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1130C>T	7.37:g.38475876G>A	ENSP00000348602:p.Ser377Phe					AMPH_uc003tgv.2_Missense_Mutation_p.S377F|AMPH_uc003tgt.2_Missense_Mutation_p.S130F	p.S377F	NM_001635	NP_001626	P49418	AMPH_HUMAN			12	1199	-			377					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1130C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478492	0.84747	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.62364	0.09;0.03;0.11	5.54	5.54	0.83059	.	0.165704	0.41396	D	0.000893	T	0.77890	0.4198	L	0.57536	1.79	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.987;0.998	T	0.78917	-0.2015	10	0.72032	D	0.01	-18.7648	19.4951	0.95069	0.0:0.0:1.0:0.0	.	377;377;133	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	F	377;377;377;147;380	ENSP00000317441:S377F;ENSP00000348602:S377F;ENSP00000390734:S377F	ENSP00000317441:S377F	S	-	2	0	AMPH	38442401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.456000	0.73501	2.609000	0.88269	0.655000	0.94253	TCT		PASS	0.463	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		16	24	16	24	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43506110	43506110	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:43506110C>T	ENST00000395891.2	+	15	3461	c.2856C>T	c.(2854-2856)tcC>tcT	p.S952S	HECW1_ENST00000453890.1_Silent_p.S918S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	952					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S952S(1)|p.S931S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTGCAGTCCCCAGCGGTCA	0.493																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2854-2856)TCC>TCT		NEDD4-like ubiquitin-protein ligase 1							114.0	108.0	110.0					7																	43506110		1951	4143	6094	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43506110C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2856C>T	7.37:g.43506110C>T						HECW1_uc011kbi.1_Silent_p.S918S	p.S952S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			15	3461	+			952					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2856C>T	CCDS5469.2																																																																																				PASS	0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		15	36	15	36	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43594213	43594213	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:43594213G>A	ENST00000395891.2	+	29	5138	c.4533G>A	c.(4531-4533)gtG>gtA	p.V1511V	HECW1_ENST00000453890.1_Silent_p.V1477V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1511	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V1511V(1)|p.V1490V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCATCTTGTGATCCGCTGGT	0.552																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4531-4533)GTG>GTA		NEDD4-like ubiquitin-protein ligase 1							40.0	39.0	39.0					7																	43594213		2023	4171	6194	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43594213G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4533G>A	7.37:g.43594213G>A						HECW1_uc011kbi.1_Silent_p.V1477V	p.V1511V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			29	5138	+			1511			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.4533G>A	CCDS5469.2																																																																																				PASS	0.552	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	12	6	12	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917324	43917324	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:43917324G>A	ENST00000453200.1	-	6	2231	c.1738C>T	c.(1738-1740)Ccg>Tcg	p.P580S	URGCP_ENST00000336086.6_Missense_Mutation_p.P537S|URGCP_ENST00000447717.3_Missense_Mutation_p.P537S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.P537S|URGCP_ENST00000402306.3_Missense_Mutation_p.P571S|URGCP_ENST00000223341.7_Missense_Mutation_p.P537S|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	580					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.P580S(1)|p.P537S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCAGTCGCGGCTGGGCCACC	0.657																																						uc003tiw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(1738-1740)CCG>TCG		up-regulated gene 4 isoform 3							32.0	39.0	37.0					7																	43917324		2007	4160	6167	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917324G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1738C>T	7.37:g.43917324G>A	ENSP00000396918:p.Pro580Ser					URGCP_uc003tiu.2_Missense_Mutation_p.P537S|URGCP_uc003tiv.2_Missense_Mutation_p.P505S|URGCP_uc003tix.2_Missense_Mutation_p.P571S|URGCP_uc003tiy.2_Missense_Mutation_p.P537S|URGCP_uc003tiz.2_Missense_Mutation_p.P537S|URGCP_uc011kbj.1_Missense_Mutation_p.P537S	p.P580S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	1795	-			580					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1738C>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	G	3.479	-0.106222	0.06924	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07	5.79	1.46	0.22682	.	0.834599	0.11019	N	0.608608	T	0.06096	0.0158	L	0.41236	1.265	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.45556	-0.9253	10	0.11182	T	0.66	-13.6212	4.8445	0.13507	0.0758:0.1274:0.5358:0.261	.	571;580	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	537;537;571;537;580;537	ENSP00000223341:P537S;ENSP00000336872:P537S;ENSP00000384955:P571S;ENSP00000392136:P537S;ENSP00000396918:P580S;ENSP00000402803:P537S	ENSP00000223341:P537S	P	-	1	0	URGCP	43883849	0.042000	0.20092	0.563000	0.28383	0.279000	0.26890	1.381000	0.34362	0.770000	0.33336	0.655000	0.94253	CCG		PASS	0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		11	12	11	12	---	---	---	---
MYL7	58498	broad.mit.edu	37	7	44178574	44178574	+	Silent	SNP	G	G	A	rs546421162		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:44178574G>A	ENST00000223364.3	-	7	500	c.474C>T	c.(472-474)atC>atT	p.I158I	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Silent_p.I131I	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	158	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.I158I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						ACTTGTAGTCGATGTTCCCCG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18562	0.0		0.0	False		,,,				2504	0.001					uc003tkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)ATC>ATT		myosin light chain 2a							142.0	99.0	113.0					7																	44178574		2203	4300	6503	SO:0001819	synonymous_variant	58498				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	g.chr7:44178574G>A	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.474C>T	7.37:g.44178574G>A							p.I158I	NM_021223	NP_067046	Q01449	MLRA_HUMAN			7	486	-			158			EF-hand 3.		B2R4L3	Silent	SNP	ENST00000223364.3	37	c.474C>T	CCDS5478.1																																																																																				PASS	0.617	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		20	30	20	30	---	---	---	---
GCK	2645	broad.mit.edu	37	7	44187324	44187324	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:44187324G>A	ENST00000403799.3	-	7	1257	c.788C>T	c.(787-789)tCc>tTc	p.S263F	GCK_ENST00000345378.2_Missense_Mutation_p.S264F|GCK_ENST00000395796.3_Missense_Mutation_p.S262F|GCK_ENST00000437084.1_Missense_Mutation_p.S246F	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	263	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.S264F(1)|p.S263F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGCTCGCCGGAGTCCCCGAA	0.632																																						uc003tkl.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)	4						c.(787-789)TCC>TTC		glucokinase isoform 1							71.0	70.0	71.0					7																	44187324		2203	4300	6503	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44187324G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.788C>T	7.37:g.44187324G>A	ENSP00000384247:p.Ser263Phe					GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.S262F|GCK_uc003tkk.1_Missense_Mutation_p.S264F	p.S263F	NM_000162	NP_000153	P35557	HXK4_HUMAN			7	1258	-			263					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.788C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723295	0.68959	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82	5.34	5.34	0.76211	Hexokinase, C-terminal (1);	0.570687	0.18930	N	0.127245	D	0.96645	0.8905	L	0.49778	1.585	0.40169	D	0.977157	P;B;P	0.45474	0.859;0.221;0.573	B;B;B	0.37731	0.257;0.154;0.167	D	0.97859	1.0279	10	0.87932	D	0	-0.0966	18.6257	0.91336	0.0:0.0:1.0:0.0	.	263;264;262	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	F	263;262;264;246	ENSP00000384247:S263F;ENSP00000379142:S262F;ENSP00000223366:S264F;ENSP00000402840:S246F	ENSP00000223366:S264F	S	-	2	0	GCK	44153849	0.773000	0.28580	0.791000	0.31998	0.785000	0.44390	2.213000	0.42844	2.502000	0.84385	0.561000	0.74099	TCC		PASS	0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			16	41	16	41	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44613194	44613194	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:44613194G>A	ENST00000258772.5	-	2	316	c.210C>T	c.(208-210)ctC>ctT	p.L70L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L70L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	70	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.L70L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CCTTCCTATGGAGCAACAGCT	0.612																																						uc003tlg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(208-210)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							61.0	66.0	64.0					7																	44613194		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44613194G>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.210C>T	7.37:g.44613194G>A						DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.L6L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.L70L|DDX56_uc010kyh.1_RNA	p.L70L	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			2	853	-			70			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.210C>T	CCDS5492.1																																																																																				PASS	0.612	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		26	58	26	58	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44721341	44721341	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:44721341G>T	ENST00000222673.5	+	10	1271	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	OGDH_ENST00000543843.1_Missense_Mutation_p.G361V|OGDH_ENST00000447398.1_Missense_Mutation_p.G421V|OGDH_ENST00000449767.1_Missense_Mutation_p.G406V|OGDH_ENST00000439616.2_Missense_Mutation_p.G260V|OGDH_ENST00000444676.1_Missense_Mutation_p.G425V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	410					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G410V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CTGTTGCATGGGGATGCTGCA	0.517																																						uc003tln.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1228-1230)GGG>GTG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						287.0	220.0	243.0					7																	44721341		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44721341G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1229G>T	7.37:g.44721341G>T	ENSP00000222673:p.Gly410Val					OGDH_uc011kbx.1_Missense_Mutation_p.G406V|OGDH_uc011kby.1_Missense_Mutation_p.G260V|OGDH_uc003tlp.2_Missense_Mutation_p.G421V|OGDH_uc011kbz.1_Missense_Mutation_p.G205V|OGDH_uc003tlo.1_Missense_Mutation_p.G243V	p.G410V	NM_002541	NP_002532	Q02218	ODO1_HUMAN			10	1338	+			410					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1229G>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503628	0.64298	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.55	4.66	0.58398	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	H	0.98996	4.395	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.80764	0.994;0.994;0.994;0.994;0.992;0.994	D	0.95970	0.8969	10	0.87932	D	0	-34.5827	16.0984	0.81148	0.0:0.1344:0.8656:0.0	.	205;260;406;421;312;410	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	V	260;406;421;425;410;361	ENSP00000398576:G260V;ENSP00000392878:G406V;ENSP00000388183:G421V;ENSP00000414662:G425V;ENSP00000222673:G410V;ENSP00000443821:G361V	ENSP00000222673:G410V	G	+	2	0	OGDH	44687866	1.000000	0.71417	0.187000	0.23214	0.460000	0.32559	9.609000	0.98334	1.337000	0.45525	0.650000	0.86243	GGG		PASS	0.517	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			5	73	5	73	---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45004658	45004658	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:45004658G>A	ENST00000258787.7	-	18	2548	c.2412C>T	c.(2410-2412)atC>atT	p.I804I		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	804						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I804I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGAAGGGGGGATGTTCTTCA	0.662																																						uc003tmh.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|pancreas(1)	4						c.(2410-2412)ATC>ATT		myosin IG							47.0	56.0	53.0					7																	45004658		2203	4300	6503	SO:0001819	synonymous_variant	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45004658G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2412C>T	7.37:g.45004658G>A						MYO1G_uc003tmf.2_Silent_p.I247I|MYO1G_uc003tmg.2_Silent_p.I566I|MYO1G_uc010kym.2_Silent_p.I689I	p.I804I	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			18	2556	-			804					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Silent	SNP	ENST00000258787.7	37	c.2412C>T	CCDS34629.1																																																																																				PASS	0.662	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			15	15	15	15	---	---	---	---
SNHG15	285958	broad.mit.edu	37	7	45025016	45025016	+	lincRNA	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:45025016A>C	ENST00000384215.1	-	0	93					NR_002952.1				small nucleolar RNA host gene 15 (non-protein coding)																		TGGATGGAGCAGGGCAAGGCC	0.507																																						uc003tmk.3																			0					0								Homo sapiens cDNA FLJ38860 fis, clone MESAN2011977.							55.0	53.0	53.0					7																	45025016		876	1991	2867			285958							g.chr7:45025016A>C	BC092459, AK096179		7p13	2014-06-23	2011-11-24	2011-11-24		ENSG00000232956		"""Long non-coding RNAs"""	27797	non-coding RNA	RNA, long non-coding	"""MYO1G upstream transcript"""		"""chromosome 7 open reading frame 40"""	C7orf40		14702039, 24036268	Standard	NR_003697		Approved	FLJ38860, MYO1GUT, Linc-Myo1g	uc003tmk.4				7.37:g.45025016A>C						C7orf40_uc003tml.3_Intron|SNORA9_uc003tmm.2_RNA								1		-									RNA	SNP	ENST00000384215.1	37	c.1221T>G																																																																																					PASS	0.507	SNHG15-201	KNOWN	basic	snoRNA	lincRNA		NR_003697		4	21	4	21	---	---	---	---
IGFBP3	3486	broad.mit.edu	37	7	45956837	45956837	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:45956837G>A	ENST00000275521.6	-	2	738	c.605C>T	c.(604-606)tCc>tTc	p.S202F	IGFBP3_ENST00000381083.4_Missense_Mutation_p.S208F|IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.S105F	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	202	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.S202F(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CTTGGACTCGGAGGAGAAGTT	0.493											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tns.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(604-606)TCC>TTC		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						162.0	150.0	154.0					7																	45956837		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956837G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.605C>T	7.37:g.45956837G>A	ENSP00000275521:p.Ser202Phe		OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.S208F|IGFBP3_uc003tnt.2_Missense_Mutation_p.S105F	p.S202F	NM_000598	NP_000589	P17936	IBP3_HUMAN			2	737	-			202			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.605C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.577729|3.577729	0.65878|0.65878	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.|T;T;T;T	.|0.26810	.|2.36;1.71;2.35;1.78	5.05|5.05	4.14|4.14	0.48551|0.48551	.|Thyroglobulin type-1 (1);	.|0.254838	.|0.35067	.|N	.|0.003474	T|T	0.45276|0.45276	0.1334|0.1334	M|M	0.81239|0.81239	2.535|2.535	0.28033|0.28033	N|N	0.934043|0.934043	.|D;B;B	.|0.55172	.|0.97;0.113;0.113	.|P;B;B	.|0.57057	.|0.812;0.099;0.168	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.54805	.|T	.|0.06	-20.0267|-20.0267	11.2111|11.2111	0.48799|0.48799	0.0:0.1859:0.8141:0.0|0.0:0.1859:0.8141:0.0	.|.	.|105;202;187	.|B3KWK7;P17936;B4DN53	.|.;IBP3_HUMAN;.	S|F	54|179;202;105;188;100;208;174;92	.|ENSP00000275521:S202F;ENSP00000370476:S105F;ENSP00000370473:S208F;ENSP00000389668:S92F	.|ENSP00000275521:S202F	P|S	-|-	1|2	0|0	IGFBP3|IGFBP3	45923362|45923362	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.937000|0.937000	0.57800|0.57800	6.288000|6.288000	0.72679|0.72679	1.072000|1.072000	0.40860|0.40860	0.655000|0.655000	0.94253|0.94253	CCG|TCC		PASS	0.493	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		50	73	50	73	---	---	---	---
C7orf65	401335	broad.mit.edu	37	7	47698586	47698586	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:47698586G>A	ENST00000408988.2	+	3	251	c.216G>A	c.(214-216)agG>agA	p.R72R		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	72								p.R72R(1)		endometrium(1)|lung(2)	3						GGGGAAGCAGGGAGCTGCTAT	0.507																																						uc010kyp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)AGG>AGA		hypothetical protein LOC401335							70.0	66.0	68.0					7																	47698586		1568	3582	5150	SO:0001819	synonymous_variant	401335							g.chr7:47698586G>A		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.216G>A	7.37:g.47698586G>A							p.R72R	NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN			3	251	+			72					A4D2F8	Silent	SNP	ENST00000408988.2	37	c.216G>A	CCDS43580.1																																																																																				PASS	0.507	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065		11	25	11	25	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47835608	47835608	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:47835608C>T	ENST00000289672.2	-	55	8384	c.8334G>A	c.(8332-8334)gaG>gaA	p.E2778E	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2778					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E2778E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCATCTCAGCCTCTTCCAACT	0.398																																						uc003tny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(8332-8334)GAG>GAA		polycystin-1L1							196.0	182.0	186.0					7																	47835608		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47835608C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8334G>A	7.37:g.47835608C>T						C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	p.E2778E	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			55	8334	-			2778			Cytoplasmic (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.8334G>A	CCDS34633.1																																																																																				PASS	0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	35	10	35	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47937673	47937673	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:47937673G>A	ENST00000289672.2	-	14	2233	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	728	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S728F(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGGGAGGGAGACAGGGAG	0.552																																						uc003tny.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(2182-2184)TCC>TTC		polycystin-1L1							99.0	89.0	92.0					7																	47937673		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47937673G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2183C>T	7.37:g.47937673G>A	ENSP00000289672:p.Ser728Phe						p.S728F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			14	2183	-			728			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2183C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700561	0.30142	.	.	ENSG00000158683	ENST00000289672	T	0.70869	-0.52	4.76	1.64	0.23874	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.827035	0.10532	N	0.663713	T	0.55689	0.1936	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.52598	0.703	T	0.46261	-0.9204	10	0.56958	D	0.05	-6.8851	3.2791	0.06908	0.3067:0.2106:0.4827:0.0	.	728	Q8TDX9	PK1L1_HUMAN	F	728	ENSP00000289672:S728F	ENSP00000289672:S728F	S	-	2	0	PKD1L1	47904198	0.535000	0.26370	0.426000	0.26672	0.147000	0.21601	0.862000	0.27899	0.585000	0.29608	0.638000	0.83543	TCC		PASS	0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	20	10	20	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48259101	48259101	+	Splice_Site	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48259101A>G	ENST00000435803.1	+	4	462	c.438A>G	c.(436-438)ccA>ccG	p.P146P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	146					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P146P(1)|p.P91P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAACACTCCAGGCAAGTAAA	0.428																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(436-438)CCA>CCG		ATP binding cassette, sub-family A (ABC1),							125.0	120.0	122.0					7																	48259101		1945	4146	6091	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259101A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.439+1A>G	7.37:g.48259101A>G						ABCA13_uc003top.2_Silent_p.P146P|ABCA13_uc010kyr.2_5'UTR	p.P146P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			4	463	+			146					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.438A>G	CCDS47584.1																																																																																				PASS	0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Silent	41	115	41	115	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48267014	48267014	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48267014C>T	ENST00000435803.1	+	6	648	c.624C>T	c.(622-624)acC>acT	p.T208T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	208					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T208T(1)|p.T153T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCTCCAGACCATTTTGAAGT	0.333																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(622-624)ACC>ACT		ATP binding cassette, sub-family A (ABC1),							97.0	90.0	92.0					7																	48267014		1861	4114	5975	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48267014C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.624C>T	7.37:g.48267014C>T						ABCA13_uc003top.2_Silent_p.T208T|ABCA13_uc010kyr.2_5'UTR	p.T208T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			6	649	+			208					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.624C>T	CCDS47584.1																																																																																				PASS	0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	59	22	59	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48273711	48273711	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48273711C>T	ENST00000435803.1	+	8	884	c.860C>T	c.(859-861)aCg>aTg	p.T287M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	287					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T232M(1)|p.T287M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATCTTCACACGGAACAGATC	0.483																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(859-861)ACG>ATG		ATP binding cassette, sub-family A (ABC1),							137.0	136.0	136.0					7																	48273711		2011	4188	6199	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48273711C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.860C>T	7.37:g.48273711C>T	ENSP00000411096:p.Thr287Met					ABCA13_uc010kyr.2_Translation_Start_Site	p.T287M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			8	885	+			287					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.860C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	1.545	-0.540780	0.04053	.	.	ENSG00000179869	ENST00000435803	D	0.85955	-2.05	5.01	-0.68	0.11346	.	1.385440	0.04931	N	0.456834	T	0.72252	0.3437	N	0.12182	0.205	0.09310	N	1	B	0.22211	0.066	B	0.12156	0.007	T	0.58115	-0.7693	10	0.38643	T	0.18	.	8.7599	0.34667	0.0:0.5003:0.0:0.4997	.	287	Q86UQ4	ABCAD_HUMAN	M	287	ENSP00000411096:T287M	ENSP00000409268:T287M	T	+	2	0	ABCA13	48244257	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.385000	0.20685	-0.097000	0.12307	-0.251000	0.11542	ACG		PASS	0.483	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		28	66	28	66	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48311894	48311894	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48311894C>T	ENST00000435803.1	+	17	2655	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	877					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F822F(1)|p.F877F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCAGTTGTTCCATTCAGATT	0.333																																						uc003toq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2629-2631)TTC>TTT		ATP binding cassette, sub-family A (ABC1),							114.0	113.0	113.0					7																	48311894		1821	4076	5897	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2631C>T	7.37:g.48311894C>T						ABCA13_uc010kyr.2_Silent_p.F380F	p.F877F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	2656	+			877					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.2631C>T	CCDS47584.1																																																																																				PASS	0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		22	67	22	67	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48313813	48313814	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48313813_48313814CC>TT	ENST00000435803.1	+	17	4574_4575	c.4550_4551CC>TT	c.(4549-4551)tCC>tTT	p.S1517F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1517					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1462F(2)|p.S1517F(2)|p.S1462S(1)|p.S1517S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATCTCAGTCCAATTGGAGAT	0.297																																						uc003toq.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4549-4551)TCC>TTC|c.(4549-4551)TCC>TCT		ATP binding cassette, sub-family A (ABC1),																																				SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313813C>T|g.chr7:48313814C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	Exception_encountered	7.37:g.48313813_48313814delinsTT	ENSP00000411096:p.Ser1517Phe					ABCA13_uc010kyr.2_Missense_Mutation_p.S1020F|ABCA13_uc010kyr.2_Silent_p.S1020S	p.S1517F|p.S1517S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4575|4576	+			1517					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation|Silent	SNP	ENST00000435803.1	37	c.4550C>T|c.4551C>T	CCDS47584.1																																																																																				PASS	0.297	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8|9	16	8	16	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48559636	48559636	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48559636G>A	ENST00000435803.1	+	53	13821		c.e53-1		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACTGTGCAGAATTTACAGA	0.338																																						uc003toq.2																			2	Unknown(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.e53-1		ATP binding cassette, sub-family A (ABC1),							82.0	71.0	74.0					7																	48559636		1811	4066	5877	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48559636G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13798-1G>A	7.37:g.48559636G>A						ABCA13_uc010kys.1_Splice_Site_p.N1675_splice|ABCA13_uc010kyt.1_Splice_Site|ABCA13_uc010kyu.1_Splice_Site_p.N330_splice	p.N4600_splice	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			53	13823	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37	c.13798_splice	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424620	0.62733	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596;ENST00000435451	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2183	0.82241	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48530182	1.000000	0.71417	0.978000	0.43139	0.824000	0.46624	6.733000	0.74796	2.508000	0.84585	0.650000	0.86243	.		PASS	0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	10	14	10	14	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48634393	48634393	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:48634393G>A	ENST00000435803.1	+	58	14752	c.14728G>A	c.(14728-14730)Gtg>Atg	p.V4910M	ABCA13_ENST00000544596.1_Missense_Mutation_p.V640M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4910	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V4855M(1)|p.V4910M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTGCTGCGGTGCTGACCTC	0.507																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14728-14730)GTG>ATG		ATP binding cassette, sub-family A (ABC1),							131.0	139.0	137.0					7																	48634393		2031	4192	6223	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48634393G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14728G>A	7.37:g.48634393G>A	ENSP00000411096:p.Val4910Met					ABCA13_uc010kys.1_Missense_Mutation_p.V1985M|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.V640M	p.V4910M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			58	14753	+			4910			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14728G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864475	0.71949	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.97924	-4.61;-4.61;-4.61	5.7	4.81	0.61882	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.178731	0.26742	N	0.022727	D	0.98140	0.9386	M	0.67397	2.05	0.36660	D	0.877921	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.78314	0.972;0.991;0.97	D	0.99785	1.1029	10	0.48119	T	0.1	.	12.8229	0.57704	0.0812:0.0:0.9188:0.0	.	640;2612;4910	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	M	4910;683;640	ENSP00000411096:V4910M;ENSP00000391042:V683M;ENSP00000442634:V640M	ENSP00000391042:V683M	V	+	1	0	ABCA13	48604939	1.000000	0.71417	0.959000	0.39883	0.974000	0.67602	4.472000	0.60189	2.672000	0.90937	0.563000	0.77884	GTG		PASS	0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		39	55	39	55	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187652	57187652	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:57187652C>T	ENST00000331162.4	-	5	1740	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	490					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.E490E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTAGGGTTTCTCTCCAGTAT	0.393																																						uc010kzo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1468-1470)GAG>GAA		zinc finger protein 479							33.0	33.0	33.0					7																	57187652		2046	4220	6266	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187652C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1470G>A	7.37:g.57187652C>T							p.E490E	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1741	-			490						Silent	SNP	ENST00000331162.4	37	c.1470G>A	CCDS43590.1																																																																																				PASS	0.393	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	36	15	36	---	---	---	---
KCTD7	154881	broad.mit.edu	37	7	66103962	66103962	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:66103962C>T	ENST00000275532.3	+	4	797	c.613C>T	c.(613-615)Ccg>Tcg	p.P205S	KCTD7_ENST00000443322.1_Missense_Mutation_p.P205S	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	205					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.P205S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CTATGAGTGTCCGCTCCTCAA	0.597																																						uc003tve.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(613-615)CCG>TCG		potassium channel tetramerisation domain							114.0	103.0	106.0					7																	66103962		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103962C>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.613C>T	7.37:g.66103962C>T	ENSP00000275532:p.Pro205Ser					RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.P205S	p.P205S	NM_153033	NP_694578	Q96MP8	KCTD7_HUMAN			4	775	+			205					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.613C>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660678	0.67586	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79247	-1.25;-1.25	5.56	5.56	0.83823	.	.	.	.	.	T	0.80491	0.4633	N	0.21448	0.665	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76035	-0.3106	9	0.18710	T	0.47	.	18.5192	0.90945	0.0:1.0:0.0:0.0	.	205	Q96MP8	KCTD7_HUMAN	S	205	ENSP00000275532:P205S;ENSP00000411624:P205S	ENSP00000275532:P205S	P	+	1	0	KCTD7	65741397	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.261000	0.78400	2.628000	0.89032	0.591000	0.81541	CCG		PASS	0.597	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		14	25	14	25	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70246667	70246667	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:70246667C>T	ENST00000342771.4	+	15	2392	c.2071C>T	c.(2071-2073)Cca>Tca	p.P691S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P667S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	691								p.P691S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGCCGCCCTCCAGGCCCCAG	0.572																																						uc003tvw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2071-2073)CCA>TCA		autism susceptibility candidate 2 isoform 1							104.0	106.0	105.0					7																	70246667		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70246667C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2071C>T	7.37:g.70246667C>T	ENSP00000344087:p.Pro691Ser					AUTS2_uc003tvx.3_Missense_Mutation_p.P667S|AUTS2_uc011keg.1_Missense_Mutation_p.P143S	p.P691S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	15	2814	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	691					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2071C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370660	0.82573	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.48201	0.85;0.82	5.92	5.92	0.95590	.	0.046961	0.85682	D	0.000000	T	0.56499	0.1989	L	0.55834	1.745	0.80722	D	1	B;P;P	0.46859	0.319;0.885;0.885	B;P;P	0.49421	0.187;0.61;0.61	T	0.49184	-0.8966	9	.	.	.	-14.9093	20.3242	0.98691	0.0:1.0:0.0:0.0	.	143;667;691	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	S	667;691	ENSP00000385263:P667S;ENSP00000344087:P691S	.	P	+	1	0	AUTS2	69884603	1.000000	0.71417	0.499000	0.27577	0.985000	0.73830	4.531000	0.60602	2.811000	0.96726	0.555000	0.69702	CCA		PASS	0.572	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			35	61	35	61	---	---	---	---
FZD9	8326	broad.mit.edu	37	7	72849152	72849152	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:72849152T>A	ENST00000344575.3	+	1	1044	c.815T>A	c.(814-816)aTg>aAg	p.M272K		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	272					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.M272K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCTCTCCATGTGCTACAAC	0.642																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(814-816)ATG>AAG		frizzled 9 precursor							142.0	138.0	140.0					7																	72849152		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849152T>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.815T>A	7.37:g.72849152T>A	ENSP00000345785:p.Met272Lys						p.M272K	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1044	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	272			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.815T>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.051866	0.55218	.	.	ENSG00000188763	ENST00000344575	T	0.41065	1.01	4.1	2.89	0.33648	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	T	0.62696	0.2449	M	0.83852	2.665	0.51012	D	0.999902	D	0.76494	0.999	D	0.70227	0.968	T	0.64245	-0.6453	10	0.66056	D	0.02	.	9.925	0.41487	0.0:0.0:0.1717:0.8282	.	272	O00144	FZD9_HUMAN	K	272	ENSP00000345785:M272K	ENSP00000345785:M272K	M	+	2	0	FZD9	72487088	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.243000	0.72384	0.523000	0.28482	0.338000	0.21704	ATG		PASS	0.642	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			34	57	34	57	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72891522	72891522	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:72891522G>A	ENST00000339594.4	-	7	2607	c.2269C>T	c.(2269-2271)Ctc>Ttc	p.L757F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.L757F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	757					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.L757F(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TATGTCATGAGGATCCGGTGG	0.473																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(2269-2271)CTC>TTC		bromodomain adjacent to zinc finger domain, 1B							108.0	97.0	100.0					7																	72891522		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891522G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2269C>T	7.37:g.72891522G>A	ENSP00000342434:p.Leu757Phe						p.L757F	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	2614	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	757					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.2269C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300014	0.60195	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.70516	-0.49;-0.49	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.63843	1.955	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.82782	-0.0287	10	0.54805	T	0.06	-15.9359	19.0127	0.92881	0.0:0.0:1.0:0.0	.	757	Q9UIG0	BAZ1B_HUMAN	F	757	ENSP00000342434:L757F;ENSP00000385442:L757F	ENSP00000342434:L757F	L	-	1	0	BAZ1B	72529458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.333000	0.65917	2.750000	0.94351	0.561000	0.74099	CTC		PASS	0.473	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		22	27	22	27	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72903596	72903596	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:72903596G>A	ENST00000339594.4	-	6	1157	c.819C>T	c.(817-819)gtC>gtT	p.V273V	BAZ1B_ENST00000404251.1_Silent_p.V273V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	273	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V273V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CATCTTCTACGACCCAAGGTG	0.423																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(817-819)GTC>GTT		bromodomain adjacent to zinc finger domain, 1B							152.0	137.0	142.0					7																	72903596		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72903596G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.819C>T	7.37:g.72903596G>A							p.V273V	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			6	1164	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	273			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.819C>T	CCDS5549.1																																																																																				PASS	0.423	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		26	51	26	51	---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73008301	73008301	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:73008301G>A	ENST00000313375.3	-	17	2500	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	MLXIPL_ENST00000414749.2_Missense_Mutation_p.S816F|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S797F|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S799F|MLXIPL_ENST00000395189.1_Missense_Mutation_p.S725F	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	818					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S818F(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGCGTAGGGAGTTCAGGAC	0.612																																						uc003tyn.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2452-2454)TCC>TTC		Williams Beuren syndrome chromosome region 14							62.0	59.0	60.0					7																	73008301		2203	4300	6503	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73008301G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2453C>T	7.37:g.73008301G>A	ENSP00000320886:p.Ser818Phe					MLXIPL_uc003tyj.1_Missense_Mutation_p.S197F|MLXIPL_uc003tyk.1_Missense_Mutation_p.S797F|MLXIPL_uc003tyl.1_Missense_Mutation_p.S816F|MLXIPL_uc003tym.1_Missense_Mutation_p.S799F|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR	p.S818F	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			17	2501	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	818					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.2453C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323139	0.81580	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189	T;T;T;T;T	0.26660	2.31;2.35;2.32;2.34;1.72	4.61	4.61	0.57282	.	0.080955	0.51477	D	0.000094	T	0.46639	0.1403	L	0.61218	1.895	0.38115	D	0.937671	D;D;D;D	0.69078	0.995;0.997;0.997;0.997	P;D;D;D	0.78314	0.88;0.944;0.983;0.991	T	0.52719	-0.8538	10	0.87932	D	0	-29.3882	12.7826	0.57485	0.0:0.0:1.0:0.0	.	818;799;816;797	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	F	816;799;818;797;725	ENSP00000412330:S816F;ENSP00000406296:S799F;ENSP00000320886:S818F;ENSP00000346629:S797F;ENSP00000378616:S725F	ENSP00000320886:S818F	S	-	2	0	MLXIPL	72646237	1.000000	0.71417	0.966000	0.40874	0.920000	0.55202	7.156000	0.77453	2.380000	0.81148	0.561000	0.74099	TCC		PASS	0.612	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		5	22	5	22	---	---	---	---
CLDN4	1364	broad.mit.edu	37	7	73245659	73245659	+	Missense_Mutation	SNP	C	C	T	rs561546540		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:73245659C>T	ENST00000435050.1	+	2	2808	c.128C>T	c.(127-129)tCg>tTg	p.S43L	CLDN4_ENST00000340958.2_Missense_Mutation_p.S43L|CLDN4_ENST00000431918.1_Missense_Mutation_p.S43L			O14493	CLD4_HUMAN	claudin 4	43	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.S43L(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATTGTCACCTCGCAGACCATC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.0					uc003tzi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)TCG>TTG		claudin 4							75.0	62.0	66.0					7																	73245659		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245659C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.128C>T	7.37:g.73245659C>T	ENSP00000409544:p.Ser43Leu					RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA	p.S43L	NM_001305	NP_001296	O14493	CLD4_HUMAN			1	467	+		Lung NSC(55;0.159)	43			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000435050.1	37	c.128C>T	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918753	0.92249	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.84589	-1.87;-1.87;-1.87	5.52	5.52	0.82312	.	0.309294	0.33496	N	0.004850	T	0.80884	0.4709	L	0.39566	1.225	0.45914	D	0.998758	P	0.35107	0.484	B	0.32677	0.15	T	0.82408	-0.0472	10	0.87932	D	0	.	16.9319	0.86192	0.0:1.0:0.0:0.0	.	43	O14493	CLD4_HUMAN	L	43	ENSP00000409544:S43L;ENSP00000388639:S43L;ENSP00000342445:S43L	ENSP00000342445:S43L	S	+	2	0	CLDN4	72883595	0.764000	0.28473	0.878000	0.34440	0.996000	0.88848	6.086000	0.71352	2.606000	0.88127	0.561000	0.74099	TCG		PASS	0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		7	19	7	19	---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	73973190	73973191	+	Splice_Site	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:73973190_73973191GG>AA	ENST00000265755.3	+	21	2545_2546	c.2152_2153GG>AA	c.(2152-2154)GGg>AAg	p.G718K	GTF2IRD1_ENST00000424337.2_Splice_Site_p.G703K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Splice_Site_p.G703K|GTF2IRD1_ENST00000455841.2_Splice_Site_p.G735K	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	718					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(2)|p.G718E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCGCCCACAGGGGAAGCCTTG	0.629																																						uc003uaq.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(4)	4						c.e21-1|c.(2152-2154)GGG>GAG		GTF2I repeat domain containing 1 isoform 1																																				SO:0001630	splice_region_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73973190G>A|g.chr7:73973191G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	Exception_encountered	7.37:g.73973190_73973191delinsAA						GTF2IRD1_uc010lbq.2_Splice_Site_p.G735_splice|GTF2IRD1_uc003uap.2_Splice_Site_p.G703_splice|GTF2IRD1_uc003uar.1_Splice_Site_p.G703_splice|GTF2IRD1_uc010lbq.2_Missense_Mutation_p.G735E|GTF2IRD1_uc003uap.2_Missense_Mutation_p.G703E|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G703E	p.G718_splice|p.G718E	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			21	2546	+			|718			|GTF2I-like 4.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Splice_Site|Missense_Mutation	SNP	ENST00000265755.3	37	c.2153_splice|c.2153G>A	CCDS5571.1																																																																																				PASS	0.629	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	Missense_Mutation	5	14|13	5	13	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74105324	74105324	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:74105324C>T	ENST00000324896.4	+	3	508	c.119C>T	c.(118-120)tCc>tTc	p.S40F	GTF2I_ENST00000416070.1_Missense_Mutation_p.S40F|GTF2I_ENST00000346152.4_Missense_Mutation_p.S40F|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.S40F|GTF2I_ENST00000443166.1_Missense_Mutation_p.S40F	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	40					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S40F(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CTGGCCAAGTCCAAAGCCGAA	0.413																																						uc003uau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TCC>TTC		general transcription factor IIi isoform 1							159.0	145.0	149.0					7																	74105324		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74105324C>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.119C>T	7.37:g.74105324C>T	ENSP00000322542:p.Ser40Phe					GTF2I_uc003uat.2_Missense_Mutation_p.S40F|GTF2I_uc003uav.2_Missense_Mutation_p.S40F|GTF2I_uc003uaw.2_Missense_Mutation_p.S40F|GTF2I_uc003uay.2_Missense_Mutation_p.S40F|GTF2I_uc003uax.2_Missense_Mutation_p.S40F	p.S40F	NM_032999	NP_127492	P78347	GTF2I_HUMAN			3	489	+			40					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.119C>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232085	0.58777	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.46819	1.38;1.41;1.41;1.44;0.86	4.6	4.6	0.57074	.	0.208943	0.33938	N	0.004415	T	0.63640	0.2528	M	0.70595	2.14	0.40339	D	0.979014	P;D;D;P;D;D	0.76494	0.868;0.974;0.994;0.815;0.996;0.999	B;P;D;P;D;D	0.77004	0.383;0.889;0.989;0.49;0.982;0.974	T	0.64470	-0.6400	10	0.39692	T	0.17	-10.7955	10.1312	0.42680	0.0:0.9075:0.0:0.0925	.	40;40;40;40;40;40	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	F	40;35;40;40;40;40;40	ENSP00000322542:S40F;ENSP00000322671:S40F;ENSP00000322599:S40F;ENSP00000387651:S40F;ENSP00000404240:S40F	ENSP00000322542:S40F	S	+	2	0	GTF2I	73743260	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.679000	0.54634	2.119000	0.64992	0.557000	0.71058	TCC		PASS	0.413	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		33	80	33	80	---	---	---	---
NCF1	653361	broad.mit.edu	37	7	74197370	74197370	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:74197370G>A	ENST00000289473.4	+	6	610	c.540G>A	c.(538-540)ggG>ggA	p.G180G	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	180	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.G180G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	TGTCCACGGGGGACGTGGTGG	0.637																																						uc003ubb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(538-540)GGG>GGA		neutrophil cytosolic factor 1							46.0	45.0	45.0					7																	74197370		2199	4298	6497	SO:0001819	synonymous_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197370G>A	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.540G>A	7.37:g.74197370G>A						NCF1_uc010lbs.1_Silent_p.G180G|NCF1_uc011kfh.1_Missense_Mutation_p.G100R	p.G180G	NM_000265	NP_000256	P14598	NCF1_HUMAN			6	610	+			180			SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	c.540G>A	CCDS34657.1																																																																																				PASS	0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		18	25	18	25	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75211415	75211415	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:75211415G>A	ENST00000336926.6	-	6	544	c.518C>T	c.(517-519)gCt>gTt	p.A173V	HIP1_ENST00000434438.2_Missense_Mutation_p.A173V|RN7SL642P_ENST00000581382.1_RNA	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	173					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.A173V(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTTTCTCCAGCCTCGTCCAG	0.552			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(517-519)GCT>GTT		huntingtin interacting protein 1							92.0	69.0	77.0					7																	75211415		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75211415G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.518C>T	7.37:g.75211415G>A	ENSP00000336747:p.Ala173Val					HIP1_uc011kfz.1_Missense_Mutation_p.A50V	p.A173V	NM_005338	NP_005329	O00291	HIP1_HUMAN			6	559	-			173					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.518C>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739949	0.69304	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T	0.32272	1.46;1.46	5.4	5.4	0.78164	ANTH (1);	0.049594	0.85682	D	0.000000	T	0.40862	0.1134	L	0.41710	1.295	0.54753	D	0.999985	P;P	0.43352	0.771;0.804	B;P	0.55222	0.444;0.771	T	0.03619	-1.1019	10	0.12103	T	0.63	-13.2482	18.1538	0.89686	0.0:0.0:1.0:0.0	.	173;173	E7ES17;O00291	.;HIP1_HUMAN	V	173;173;144	ENSP00000336747:A173V;ENSP00000410300:A173V	ENSP00000336747:A173V	A	-	2	0	HIP1	75049351	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	7.564000	0.82326	2.530000	0.85305	0.561000	0.74099	GCT		PASS	0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		7	17	7	17	---	---	---	---
RHBDD2	57414	broad.mit.edu	37	7	75517459	75517459	+	Missense_Mutation	SNP	C	C	T	rs569926032		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:75517459C>T	ENST00000006777.6	+	4	1022	c.887C>T	c.(886-888)cCg>cTg	p.P296L	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_Missense_Mutation_p.P155L|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P155L	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	296						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)	p.P296L(1)|p.P155L(1)		kidney(1)|lung(4)|prostate(1)	6						ACCTTGCCTCCGTACCAGCCT	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0					uc003udw.1																			2	Substitution - Missense(2)		lung(2)		0						c.(886-888)CCG>CTG		rhomboid domain containing 2 isoform a							76.0	91.0	86.0					7																	75517459		2157	4266	6423	SO:0001583	missense	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75517459C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.887C>T	7.37:g.75517459C>T	ENSP00000006777:p.Pro296Leu					RHBDD2_uc003udv.1_Missense_Mutation_p.P155L	p.P296L	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN			4	971	+			296					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	c.887C>T	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874776	0.33069	.	.	ENSG00000005486	ENST00000006777;ENST00000413229;ENST00000318622;ENST00000428119	T	0.38560	1.13	5.1	4.23	0.50019	.	0.277448	0.29551	N	0.011828	T	0.24699	0.0599	N	0.19112	0.55	0.21386	N	0.9997	B	0.15473	0.013	B	0.10450	0.005	T	0.15464	-1.0436	10	0.87932	D	0	-15.3552	3.9517	0.09372	0.1663:0.586:0.1606:0.0871	.	296	Q6NTF9	RHBD2_HUMAN	L	296;340;155;155	ENSP00000006777:P296L	ENSP00000006777:P296L	P	+	2	0	RHBDD2	75355395	0.008000	0.16893	0.546000	0.28166	0.051000	0.14879	0.211000	0.17474	1.390000	0.46547	0.655000	0.94253	CCG		PASS	0.662	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684		35	65	35	65	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76111997	76111997	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:76111997C>T	ENST00000324432.5	+	5	951	c.441C>T	c.(439-441)ccC>ccT	p.P147P	DTX2_ENST00000446820.2_Silent_p.P147P|DTX2_ENST00000446600.1_Silent_p.P56P|DTX2_ENST00000430490.2_Silent_p.P147P|DTX2_ENST00000413936.2_Silent_p.P147P|DTX2_ENST00000307569.8_Silent_p.P147P	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	147	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P147P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACTTGGCCCCCCTGGGGTACA	0.627																																						uc003uff.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)CCC>CCT		deltex 2 isoform a							49.0	41.0	44.0					7																	76111997		2203	4297	6500	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111997C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.441C>T	7.37:g.76111997C>T						DTX2_uc011kgk.1_Silent_p.P56P|DTX2_uc003ufg.3_Silent_p.P147P|DTX2_uc003ufh.3_Silent_p.P147P|DTX2_uc003ufj.3_Silent_p.P147P	p.P147P	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	997	+			147			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.441C>T	CCDS5587.1																																																																																				PASS	0.627	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			3	13	3	13	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76132846	76132847	+	Missense_Mutation	DNP	CC	CC	TA	rs368392380		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:76132846_76132847CC>TA	ENST00000324432.5	+	10	2003_2004	c.1493_1494CC>TA	c.(1492-1494)cCC>cTA	p.P498L	DTX2_ENST00000446820.2_Missense_Mutation_p.P451L|DTX2_ENST00000446600.1_Missense_Mutation_p.P407L|DTX2_ENST00000430490.2_Missense_Mutation_p.P498L|DTX2_ENST00000413936.2_Missense_Mutation_p.P498L|DTX2_ENST00000307569.8_Missense_Mutation_p.P451L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	498					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P498L(2)|p.P498P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ATGTCGCTCCCCGGCCACGAGG	0.579																																						uc003uff.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(1492-1494)CCC>CTC|c.(1492-1494)CCC>CCA		deltex 2 isoform a																																				SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76132846C>T|g.chr7:76132847C>A		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	Exception_encountered	7.37:g.76132846_76132847delinsTA	ENSP00000322885:p.Pro498Leu					DTX2_uc011kgk.1_Missense_Mutation_p.P407L|DTX2_uc003ufg.3_Missense_Mutation_p.P498L|DTX2_uc003ufh.3_Missense_Mutation_p.P498L|DTX2_uc003ufj.3_Missense_Mutation_p.P451L|DTX2_uc003ufk.3_Missense_Mutation_p.P129L|DTX2_uc003ufm.3_Missense_Mutation_p.P211L|DTX2_uc003ufn.3_Missense_Mutation_p.P83L|DTX2_uc011kgk.1_Silent_p.P407P|DTX2_uc003ufg.3_Silent_p.P498P|DTX2_uc003ufh.3_Silent_p.P498P|DTX2_uc003ufj.3_Silent_p.P451P|DTX2_uc003ufk.3_Silent_p.P129P|DTX2_uc003ufm.3_Silent_p.P211P|DTX2_uc003ufn.3_Silent_p.P83P	p.P498L|p.P498P	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			10	2049|2050	+			498					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation|Silent	SNP	ENST00000324432.5	37	c.1493C>T|c.1494C>A	CCDS5587.1																																																																																				PASS	0.579	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			5	17	5	17	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76903065	76903065	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:76903065C>T	ENST00000285871.4	+	10	1355	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	CCDC146_ENST00000415740.2_Intron|CCDC146_ENST00000431197.1_Intron	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	410								p.H410Y(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GCGAGAGCTTCACAAGGAAGT	0.353																																						uc003uga.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1228-1230)CAC>TAC		coiled-coil domain containing 146							141.0	145.0	144.0					7																	76903065		2203	4300	6503	SO:0001583	missense	57639							g.chr7:76903065C>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1228C>T	7.37:g.76903065C>T	ENSP00000285871:p.His410Tyr					CCDC146_uc010ldp.2_Intron	p.H410Y	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			10	1355	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	410			Potential.		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.1228C>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564782	0.65651	.	.	ENSG00000135205	ENST00000285871	T	0.29397	1.57	5.46	5.46	0.80206	.	0.273852	0.36482	N	0.002561	T	0.29882	0.0747	L	0.36672	1.1	0.80722	D	1	P	0.39282	0.666	B	0.37833	0.259	T	0.07139	-1.0788	10	0.59425	D	0.04	-5.2574	18.8976	0.92430	0.0:1.0:0.0:0.0	.	410	Q8IYE0	CC146_HUMAN	Y	410	ENSP00000285871:H410Y	ENSP00000285871:H410Y	H	+	1	0	AC007000.1	76741001	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.797000	0.47877	2.542000	0.85734	0.555000	0.69702	CAC		PASS	0.353	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		24	90	24	90	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77558484	77558484	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:77558484C>T	ENST00000248550.7	+	11	1254	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PHTF2_ENST00000307305.8_Missense_Mutation_p.S355F|PHTF2_ENST00000416283.2_Missense_Mutation_p.S359F|PHTF2_ENST00000422959.2_Missense_Mutation_p.S359F|PHTF2_ENST00000275575.7_Missense_Mutation_p.S355F|PHTF2_ENST00000424760.1_Missense_Mutation_p.S355F|PHTF2_ENST00000454592.1_3'UTR			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S393F(1)|p.S359F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						AGACAGGATTCTGAGAGTGCA	0.418																																						uc003ugs.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1177-1179)TCT>TTT		putative homeodomain transcription factor 2							83.0	77.0	79.0					7																	77558484		1872	4111	5983	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77558484C>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1178C>T	7.37:g.77558484C>T	ENSP00000248550:p.Ser393Phe					PHTF2_uc003ugp.2_Missense_Mutation_p.S355F|PHTF2_uc003ugq.3_Missense_Mutation_p.S355F|PHTF2_uc010ldv.2_Missense_Mutation_p.S355F|PHTF2_uc003ugt.3_Missense_Mutation_p.S359F|PHTF2_uc003ugu.3_Missense_Mutation_p.S355F|PHTF2_uc003ugv.2_Missense_Mutation_p.S218F|PHTF2_uc010ldw.1_Missense_Mutation_p.S218F	p.S393F	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			11	1304	+			393					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1178C>T		.	.	.	.	.	.	.	.	.	.	C	28.8	4.953472	0.92660	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.997;0.992;0.984;0.999	T	0.61232	-0.7104	9	0.11485	T	0.65	-16.0937	20.6208	0.99490	0.0:1.0:0.0:0.0	.	197;355;218;359;393;355;355	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;.;PHTF2_HUMAN;.;.	F	359;359;355;355;355;359;393	.	ENSP00000248550:S393F	S	+	2	0	PHTF2	77396420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.882000	0.98803	0.655000	0.94253	TCT		PASS	0.418	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		22	31	22	31	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77764507	77764507	+	Silent	SNP	G	G	A	rs536195892	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:77764507G>A	ENST00000354212.4	-	17	3115	c.2862C>T	c.(2860-2862)atC>atT	p.I954I	MAGI2_ENST00000522391.1_Silent_p.I954I|MAGI2_ENST00000419488.1_Silent_p.I940I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	954	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.I954I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGATGCGTCCGATTTTATGGG	0.463													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20226	0.0		0.0	False		,,,				2504	0.0					uc003ugx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2860-2862)ATC>ATT		membrane associated guanylate kinase, WW and PDZ							103.0	97.0	99.0					7																	77764507		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77764507G>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2862C>T	7.37:g.77764507G>A						MAGI2_uc003ugy.2_Silent_p.I940I|MAGI2_uc010ldx.1_Silent_p.I547I	p.I954I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			17	3116	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	954			PDZ 5.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2862C>T	CCDS5594.1																																																																																				PASS	0.463	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		14	41	14	41	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	78636505	78636505	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:78636505C>T	ENST00000354212.4	-	2	572	c.319G>A	c.(319-321)Gac>Aac	p.D107N	MAGI2_ENST00000522391.1_Missense_Mutation_p.D107N|MAGI2_ENST00000419488.1_Missense_Mutation_p.D107N|MAGI2-AS2_ENST00000411616.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	107					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.D107N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGACGAAGGTCTTTATCAACA	0.383																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(319-321)GAC>AAC		membrane associated guanylate kinase, WW and PDZ							119.0	104.0	109.0					7																	78636505		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78636505C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.319G>A	7.37:g.78636505C>T	ENSP00000346151:p.Asp107Asn					MAGI2_uc003ugy.2_Missense_Mutation_p.D107N	p.D107N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			2	573	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	107					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.319G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150039	0.94645	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.14022	2.62;2.63;2.54	5.29	5.29	0.74685	PDZ/DHR/GLGF (1);Guanylate kinase/L-type calcium channel (1);	.	.	.	.	T	0.42245	0.1194	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.41052	-0.9530	9	0.87932	D	0	.	17.9199	0.88963	0.0:1.0:0.0:0.0	.	107;107	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	N	107	ENSP00000405766:D107N;ENSP00000346151:D107N;ENSP00000428389:D107N	ENSP00000346151:D107N	D	-	1	0	MAGI2	78474441	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.683000	0.84093	2.470000	0.83445	0.637000	0.83480	GAC		PASS	0.383	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		14	25	14	25	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82390020	82390020	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82390020C>T	ENST00000333891.9	-	24	15560	c.15223G>A	c.(15223-15225)Gat>Aat	p.D5075N		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D5075N(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTCGATCATGTCTGCAT	0.328																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(15223-15225)GAT>AAT		piccolo isoform 1							135.0	131.0	132.0					7																	82390020		1829	4073	5902	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82390020C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15223G>A	7.37:g.82390020C>T	ENSP00000334319:p.Asp5075Asn						p.D5075N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			24	15512	-			4998			C2 2.			Missense_Mutation	SNP	ENST00000333891.9	37	c.15223G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445337	0.63178	.	.	ENSG00000186472	ENST00000333891	T	0.06933	3.24	5.25	5.25	0.73442	.	0.000000	0.44902	U	0.000414	T	0.16385	0.0394	N	0.11870	0.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24657	-1.0154	10	0.87932	D	0	.	18.8516	0.92232	0.0:1.0:0.0:0.0	.	5075	Q9Y6V0-5	.	N	5075	ENSP00000334319:D5075N	ENSP00000334319:D5075N	D	-	1	0	PCLO	82227956	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.446000	0.82766	0.585000	0.79938	GAT		PASS	0.328	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	48	13	48	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82538253	82538253	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82538253C>T	ENST00000333891.9	-	8	13714	c.13377G>A	c.(13375-13377)ctG>ctA	p.L4459L	PCLO_ENST00000423517.2_Silent_p.L4459L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L4459L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTCGGTCCAGACCATGTC	0.418																																						uc003uhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)	7						c.(13375-13377)CTG>CTA		piccolo isoform 1							115.0	108.0	110.0					7																	82538253		1905	4125	6030	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82538253C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13377G>A	7.37:g.82538253C>T						PCLO_uc003uhv.2_Silent_p.L4459L	p.L4459L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			8	13666	-			4390						Silent	SNP	ENST00000333891.9	37	c.13377G>A	CCDS47630.1																																																																																				PASS	0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	53	20	53	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82546006	82546006	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82546006T>G	ENST00000333891.9	-	7	11633	c.11296A>C	c.(11296-11298)Ata>Cta	p.I3766L	PCLO_ENST00000423517.2_Missense_Mutation_p.I3766L|PCLO_ENST00000437081.1_Missense_Mutation_p.I486L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.I3766L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCTGTCTATGTCCTGGAGA	0.458																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(11296-11298)ATA>CTA		piccolo isoform 1							123.0	111.0	115.0					7																	82546006		1909	4137	6046	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82546006T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11296A>C	7.37:g.82546006T>G	ENSP00000334319:p.Ile3766Leu					PCLO_uc003uhv.2_Missense_Mutation_p.I3766L|PCLO_uc010lec.2_Missense_Mutation_p.I731L	p.I3766L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	11585	-			3697						Missense_Mutation	SNP	ENST00000333891.9	37	c.11296A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009526	0.35415	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.11385	2.79;2.78	6.04	6.04	0.98038	.	.	.	.	.	T	0.24661	0.0598	L	0.33485	1.01	0.58432	D	0.999999	D;D;D	0.76494	0.994;0.996;0.999	D;D;D	0.80764	0.978;0.994;0.994	T	0.00740	-1.1586	9	0.87932	D	0	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	3697;3766;3766	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3766;3766;486	ENSP00000334319:I3766L;ENSP00000388393:I3766L	ENSP00000334319:I3766L	I	-	1	0	PCLO	82383942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	ATA		PASS	0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		17	36	17	36	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579038	82579038	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82579038G>A	ENST00000333891.9	-	6	11203	c.10866C>T	c.(10864-10866)gtC>gtT	p.V3622V	PCLO_ENST00000423517.2_Silent_p.V3622V|PCLO_ENST00000437081.1_Silent_p.V342V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V3622V(2)|p.V3553V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGAGTAAAGGACTTTGGGGG	0.478																																						uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(10864-10866)GTC>GTT		piccolo isoform 1							107.0	108.0	108.0					7																	82579038		1996	4180	6176	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579038G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10866C>T	7.37:g.82579038G>A						PCLO_uc003uhv.2_Silent_p.V3622V|PCLO_uc010lec.2_Silent_p.V587V	p.V3622V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	11155	-			3553						Silent	SNP	ENST00000333891.9	37	c.10866C>T	CCDS47630.1																																																																																				PASS	0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		33	69	33	69	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579134	82579134	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82579134C>T	ENST00000333891.9	-	6	11107	c.10770G>A	c.(10768-10770)aaG>aaA	p.K3590K	PCLO_ENST00000423517.2_Silent_p.K3590K|PCLO_ENST00000437081.1_Silent_p.K310K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K3590K(2)|p.K3521K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGCGTTTCTTGTCTTTGG	0.473																																						uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(10768-10770)AAG>AAA		piccolo isoform 1							144.0	142.0	142.0					7																	82579134		2078	4210	6288	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579134C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10770G>A	7.37:g.82579134C>T						PCLO_uc003uhv.2_Silent_p.K3590K|PCLO_uc010lec.2_Silent_p.K555K	p.K3590K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	11059	-			3521						Silent	SNP	ENST00000333891.9	37	c.10770G>A	CCDS47630.1																																																																																				PASS	0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		20	43	20	43	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82581358	82581359	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82581358_82581359CC>TT	ENST00000333891.9	-	5	9247_9248	c.8910_8911GG>AA	c.(8908-8913)agGGat>agAAat	p.D2971N	PCLO_ENST00000423517.2_Missense_Mutation_p.D2971N|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D2971N(4)|p.R2970R(2)|p.D2902N(2)|p.R2901R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGTGGTCATCCCTATAACCAA	0.46																																						uc003uhx.2																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	ovary(7)	7						c.(8911-8913)GAT>AAT|c.(8908-8910)AGG>AGA		piccolo isoform 1																																				SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581358C>T|g.chr7:82581359C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8910_8911delinsTT	7.37:g.82581358_82581359delinsTT	ENSP00000334319:p.Asp2971Asn					PCLO_uc003uhv.2_Missense_Mutation_p.D2971N|PCLO_uc010lec.2_5'Flank|PCLO_uc003uhv.2_Silent_p.R2970R|PCLO_uc010lec.2_5'Flank	p.D2971N|p.R2970R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9200|9199	-			2902|2901						Missense_Mutation|Silent	SNP	ENST00000333891.9	37	c.8911G>A|c.8910G>A	CCDS47630.1																																																																																				PASS	0.460	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		40	112|111	40	111	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82582984	82582984	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82582984G>A	ENST00000333891.9	-	5	7622	c.7285C>T	c.(7285-7287)Cca>Tca	p.P2429S	PCLO_ENST00000423517.2_Missense_Mutation_p.P2429S|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P2429S(2)|p.P2360S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGTTGGTggaggaagtggt	0.502																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(7285-7287)CCA>TCA		piccolo isoform 1							31.0	26.0	28.0					7																	82582984		1810	4052	5862	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582984G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7285C>T	7.37:g.82582984G>A	ENSP00000334319:p.Pro2429Ser					PCLO_uc003uhv.2_Missense_Mutation_p.P2429S|PCLO_uc010lec.2_5'Flank	p.P2429S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7574	-			2360			Poly-Pro.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.7285C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398481	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	4.32	4.32	0.51571	.	.	.	.	.	T	0.19685	0.0473	L	0.43152	1.355	0.80722	D	1	B;B	0.27932	0.194;0.194	B;B	0.31495	0.131;0.131	T	0.07927	-1.0747	9	0.87932	D	0	.	16.439	0.83894	0.0:0.0:1.0:0.0	.	2429;2429	Q9Y6V0-5;Q9Y6V0-6	.;.	S	2360;2429;2429	ENSP00000334319:P2429S;ENSP00000388393:P2429S	ENSP00000334319:P2429S	P	-	1	0	PCLO	82420920	1.000000	0.71417	0.247000	0.24249	0.956000	0.61745	4.664000	0.61540	1.973000	0.57446	0.478000	0.44815	CCA		PASS	0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		4	4	4	4	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82584648	82584648	+	Missense_Mutation	SNP	G	G	A	rs371631647		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82584648G>A	ENST00000333891.9	-	5	5958	c.5621C>T	c.(5620-5622)cCg>cTg	p.P1874L	PCLO_ENST00000423517.2_Missense_Mutation_p.P1874L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P1874L(2)|p.P1805L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTTTTTCCGGGCTTATTTC	0.388																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(5620-5622)CCG>CTG		piccolo isoform 1		G	LEU/PRO,LEU/PRO	0,3612		0,0,1806	89.0	82.0	84.0		5621,5621	5.6	1.0	7		84	1,8143		0,1,4071	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	98,98	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging,probably-damaging	1874/4936,1874/5143	82584648	1,11755	1806	4072	5878	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584648G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5621C>T	7.37:g.82584648G>A	ENSP00000334319:p.Pro1874Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P1874L	p.P1874L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5910	-			1805						Missense_Mutation	SNP	ENST00000333891.9	37	c.5621C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817513	0.32145	0.0	1.23E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20598	2.06;2.07	5.57	5.57	0.84162	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.17137	-1.0379	9	0.87932	D	0	.	19.5403	0.95271	0.0:0.0:1.0:0.0	.	1874;1874	Q9Y6V0-5;Q9Y6V0-6	.;.	L	1805;1874;1874	ENSP00000334319:P1874L;ENSP00000388393:P1874L	ENSP00000334319:P1874L	P	-	2	0	PCLO	82422584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.159000	0.94728	2.619000	0.88677	0.655000	0.94253	CCG		PASS	0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		26	61	26	61	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764182	82764182	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82764182G>A	ENST00000333891.9	-	3	3021	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	PCLO_ENST00000423517.2_Missense_Mutation_p.S895F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S895F(2)|p.S841F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGCTTTGGGGACTGTTGAGG	0.542																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2683-2685)TCC>TTC		piccolo isoform 1							187.0	185.0	185.0					7																	82764182		1974	4162	6136	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764182G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2684C>T	7.37:g.82764182G>A	ENSP00000334319:p.Ser895Phe					PCLO_uc003uhv.2_Missense_Mutation_p.S895F	p.S895F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2973	-			841			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2684C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048513	0.36181	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	6.07	6.07	0.98685	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	B;B	0.27117	0.168;0.168	B;B	0.26770	0.073;0.073	T	0.17289	-1.0374	9	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	895;895	Q9Y6V0-5;Q9Y6V0-6	.;.	F	841;895;895	ENSP00000334319:S895F;ENSP00000388393:S895F	ENSP00000334319:S895F	S	-	2	0	PCLO	82602118	1.000000	0.71417	0.977000	0.42913	0.960000	0.62799	3.869000	0.56062	2.884000	0.98904	0.655000	0.94253	TCC		PASS	0.542	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		43	121	43	121	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764680	82764680	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82764680A>G	ENST00000333891.9	-	3	2523	c.2186T>C	c.(2185-2187)tTg>tCg	p.L729S	PCLO_ENST00000423517.2_Missense_Mutation_p.L729S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L729S(2)|p.L675S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTTGGACAAAGAATCTGC	0.537																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2185-2187)TTG>TCG		piccolo isoform 1							114.0	110.0	111.0					7																	82764680		1921	4121	6042	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764680A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2186T>C	7.37:g.82764680A>G	ENSP00000334319:p.Leu729Ser					PCLO_uc003uhv.2_Missense_Mutation_p.L729S	p.L729S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2475	-			675			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2186T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	0.256	-1.002900	0.02128	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15603	2.42;2.41	5.83	-1.87	0.07737	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33343	-0.9872	9	0.87932	D	0	.	8.5503	0.33447	0.4343:0.098:0.4677:0.0	.	729;729	Q9Y6V0-5;Q9Y6V0-6	.;.	S	675;729;729	ENSP00000334319:L729S;ENSP00000388393:L729S	ENSP00000334319:L729S	L	-	2	0	PCLO	82602616	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.304000	0.08199	-0.231000	0.09825	-0.898000	0.02899	TTG		PASS	0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	30	9	30	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82784886	82784886	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:82784886C>T	ENST00000333891.9	-	2	1408	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	PCLO_ENST00000423517.2_Silent_p.G357G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G357G(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTTGTTGTCCCTGGTGGCT	0.602																																						uc003uhx.2																			3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(1069-1071)GGG>GGA		piccolo isoform 1							45.0	47.0	46.0					7																	82784886		1968	4164	6132	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784886C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1071G>A	7.37:g.82784886C>T						PCLO_uc003uhv.2_Silent_p.G357G	p.G357G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	1360	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Silent	SNP	ENST00000333891.9	37	c.1071G>A	CCDS47630.1																																																																																				PASS	0.602	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	16	9	16	---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83634661	83634661	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:83634661C>T	ENST00000265362.4	-	11	1668	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G452R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	452	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.G452R(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTACCTGTTCCGATAAACATA	0.358																																						uc003uhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(1354-1356)GGA>AGA		semaphorin 3A precursor							130.0	116.0	120.0					7																	83634661		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83634661C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1354G>A	7.37:g.83634661C>T	ENSP00000265362:p.Gly452Arg						p.G452R	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			11	1669	-			452			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1354G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862530	0.91511	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.32753	1.44;1.44	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75218	-0.3395	10	0.87932	D	0	.	18.556	0.91085	0.0:1.0:0.0:0.0	.	452	Q14563	SEM3A_HUMAN	R	452	ENSP00000265362:G452R;ENSP00000415260:G452R	ENSP00000265362:G452R	G	-	1	0	SEMA3A	83472597	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.722000	0.84778	2.446000	0.82766	0.585000	0.79938	GGA		PASS	0.358	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		16	34	16	34	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415831	86415831	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:86415831C>T	ENST00000361669.2	+	3	1822	c.723C>T	c.(721-723)atC>atT	p.I241I	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.I113I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.I239I|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Silent_p.I241I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	241					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.I241I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACATCTGCATCGCTACGGCGG	0.617																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(721-723)ATC>ATT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						49.0	49.0	49.0					7																	86415831		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415831C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.723C>T	7.37:g.86415831C>T						GRM3_uc010lef.2_Silent_p.I239I|GRM3_uc010leg.2_Silent_p.I113I|GRM3_uc010leh.2_Intron	p.I241I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1822	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		241			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.723C>T	CCDS5600.1																																																																																				PASS	0.617	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			7	23	7	23	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87053293	87053293	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:87053293C>T	ENST00000265723.4	-	17	2251	c.2140G>A	c.(2140-2142)Gga>Aga	p.G714R	ABCB4_ENST00000545634.1_Missense_Mutation_p.G714R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G714R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G714R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G714R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	714	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G714R(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CATACTGTTCCCACGACAAAG	0.453																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2140-2142)GGA>AGA		ATP-binding cassette, subfamily B, member 4							171.0	167.0	169.0					7																	87053293		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053293C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2140G>A	7.37:g.87053293C>T	ENSP00000265723:p.Gly714Arg					ABCB4_uc003uiw.1_Missense_Mutation_p.G714R|ABCB4_uc003uix.1_Missense_Mutation_p.G714R	p.G714R	NM_018849	NP_061337	P21439	MDR3_HUMAN			17	2216	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		714			Helical; (By similarity).|ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2140G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421064	0.96111	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	6.11	6.11	0.99139	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053759	0.85682	D	0.000000	D	0.96694	0.8921	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96553	0.9409	10	0.87932	D	0	-15.9803	20.7342	0.99715	0.0:1.0:0.0:0.0	.	714;714;714	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	714	ENSP00000352135:G714R;ENSP00000351172:G714R;ENSP00000265723:G714R;ENSP00000392983:G714R;ENSP00000437465:G714R	ENSP00000265723:G714R	G	-	1	0	ABCB4	86891229	1.000000	0.71417	0.762000	0.31397	0.992000	0.81027	7.160000	0.77495	2.906000	0.99361	0.655000	0.94253	GGA		PASS	0.453	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		31	68	31	68	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87148714	87148714	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:87148714G>A	ENST00000265724.3	-	24	3272	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S888F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	952	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S952F(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCCAGCATAGGAAAAATACAT	0.383																																						uc003uiz.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2854-2856)TCC>TTC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						93.0	87.0	89.0					7																	87148714		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148714G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2855C>T	7.37:g.87148714G>A	ENSP00000265724:p.Ser952Phe					ABCB1_uc011khc.1_Missense_Mutation_p.S888F	p.S952F	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3273	-	Esophageal squamous(14;0.00164)		952			Helical; (Potential).|ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2855C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305755	0.81247	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91894	-2.93;-2.93	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.100176	0.64402	D	0.000002	D	0.94892	0.8349	M	0.64676	1.99	0.47214	D	0.999353	B;D	0.71674	0.354;0.998	B;D	0.76071	0.405;0.987	D	0.94833	0.7998	10	0.87932	D	0	-18.671	13.2628	0.60115	0.0723:0.0:0.9277:0.0	.	888;952	B5AK60;P08183	.;MDR1_HUMAN	F	733;952;888	ENSP00000265724:S952F;ENSP00000444095:S888F	ENSP00000265724:S952F	S	-	2	0	ABCB1	86986650	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.578000	0.67450	2.736000	0.93811	0.561000	0.74099	TCC		PASS	0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		21	37	21	37	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88424012	88424012	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:88424012C>T	ENST00000297203.2	-	2	430	c.245G>A	c.(244-246)gGa>gAa	p.G82E	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	82								p.G82E(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CACTGCTTCTCCTAGGTGATG	0.398																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GGA>GAA		hypothetical protein LOC219557							100.0	96.0	97.0					7																	88424012		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424012C>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.245G>A	7.37:g.88424012C>T	ENSP00000297203:p.Gly82Glu					ZNF804B_uc011khi.1_Intron	p.G82E	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	427	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		82						Missense_Mutation	SNP	ENST00000297203.2	37	c.245G>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813471	0.16537	.	.	ENSG00000164645	ENST00000297203	T	0.16597	2.33	6.16	4.24	0.50183	.	0.382896	0.26442	N	0.024360	T	0.13457	0.0326	L	0.49455	1.56	0.38036	D	0.935311	P	0.41041	0.736	B	0.31812	0.136	T	0.07481	-1.0770	10	0.56958	D	0.05	-20.3376	8.2275	0.31577	0.0:0.8008:0.0:0.1992	.	82	Q8TBZ9	CG062_HUMAN	E	82	ENSP00000297203:G82E	ENSP00000297203:G82E	G	-	2	0	C7orf62	88261948	0.830000	0.29337	0.957000	0.39632	0.091000	0.18340	0.816000	0.27267	0.811000	0.34303	-0.355000	0.07637	GGA		PASS	0.398	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		14	30	14	30	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:88963589A>T	ENST00000333190.4	+	4	1902	c.1293A>T	c.(1291-1293)gcA>gcT	p.A431A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	431							metal ion binding (GO:0046872)	p.A431A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1291-1293)GCA>GCT		zinc finger protein 804B							64.0	65.0	65.0					7																	88963589		2201	4299	6500	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963589A>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1293A>T	7.37:g.88963589A>T		HNSCC(36;0.09)					p.A431A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1831	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		431					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1293A>T	CCDS5613.1																																																																																				PASS	0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		21	29	21	29	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965077	88965077	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:88965077C>T	ENST00000333190.4	+	4	3390	c.2781C>T	c.(2779-2781)atC>atT	p.I927I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	927							metal ion binding (GO:0046872)	p.I927I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGCAAAAATCCTTTTAGAAA	0.413										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2779-2781)ATC>ATT		zinc finger protein 804B							109.0	117.0	114.0					7																	88965077		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965077C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2781C>T	7.37:g.88965077C>T		HNSCC(36;0.09)					p.I927I	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3319	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		927					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2781C>T	CCDS5613.1																																																																																				PASS	0.413	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		75	147	75	147	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965831	88965831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:88965831C>T	ENST00000333190.4	+	4	4144	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1179							metal ion binding (GO:0046872)	p.R1179*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAGCATCTTCGAGTTTTGCC	0.483										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3535-3537)CGA>TGA		zinc finger protein 804B							87.0	76.0	79.0					7																	88965831		2203	4300	6503	SO:0001587	stop_gained	219578					intracellular	zinc ion binding	g.chr7:88965831C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3535C>T	7.37:g.88965831C>T	ENSP00000329638:p.Arg1179*	HNSCC(36;0.09)					p.R1179*	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4073	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1179					B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	c.3535C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	45	11.469398	0.99565	.	.	ENSG00000182348	ENST00000333190	.	.	.	4.98	4.03	0.46877	.	0.260216	0.27420	N	0.019452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8021	13.3257	0.60459	0.2673:0.7327:0.0:0.0	.	.	.	.	X	1179	.	ENSP00000329638:R1179X	R	+	1	2	ZNF804B	88803767	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.436000	0.44819	2.736000	0.93811	0.655000	0.94253	CGA		PASS	0.483	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		18	38	18	38	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89909084	89909084	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:89909084G>A	ENST00000389297.4	+	12	1500	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	C7orf63_ENST00000316089.8_Missense_Mutation_p.E417K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E399K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		417								p.E417K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AGCACAGCATGAAGAATTACA	0.388											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc010lep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1249-1251)GAA>AAA		hypothetical protein LOC79846 isoform 1							142.0	140.0	140.0					7																	89909084		1867	4111	5978	SO:0001583	missense	79846						binding	g.chr7:89909084G>A																												ENST00000389297.4:c.1249G>A	7.37:g.89909084G>A	ENSP00000373948:p.Glu417Lys		OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1270	C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.E92K|C7orf63_uc011khj.1_Missense_Mutation_p.E399K|C7orf63_uc011khk.1_5'UTR	p.E417K	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			12	1500	+			417					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1249G>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556498	0.86231	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.25	5.25	0.73442	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.80183	2.485	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.988;0.996;0.996	T	0.65676	-0.6110	10	0.72032	D	0.01	-23.494	18.8489	0.92218	0.0:0.0:1.0:0.0	.	399;417;417	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	K	417;417;399;300	ENSP00000373948:E417K;ENSP00000321753:E417K;ENSP00000419549:E399K;ENSP00000392365:E300K	ENSP00000321753:E417K	E	+	1	0	C7orf63	89747020	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.230000	0.89793	2.441000	0.82636	0.555000	0.69702	GAA		PASS	0.388	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			27	75	27	75	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91674509	91674509	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:91674509C>T	ENST00000359028.2	+	22	5611	c.5386C>T	c.(5386-5388)Cat>Tat	p.H1796Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.H1784Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.H1796Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1796					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.H1796Y(1)|p.H1784Y(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTCATGTGTCCATGAGGAACA	0.408			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(5350-5352)CAT>TAT		A-kinase anchor protein 9 isoform 2							99.0	95.0	96.0					7																	91674509		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91674509C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5386C>T	7.37:g.91674509C>T	ENSP00000351922:p.His1796Tyr					AKAP9_uc003ulf.2_Missense_Mutation_p.H1784Y|AKAP9_uc003uli.2_Missense_Mutation_p.H1409Y	p.H1784Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		21	5575	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1796					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5350C>T		.	.	.	.	.	.	.	.	.	.	C	9.524	1.108983	0.20714	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03242	4.01;4.01;4.0	4.86	4.86	0.63082	.	0.389986	0.19128	N	0.121988	T	0.05227	0.0139	L	0.56769	1.78	0.22479	N	0.999064	P;P;P	0.37864	0.475;0.61;0.61	B;B;B	0.37888	0.063;0.134;0.26	T	0.31998	-0.9923	10	0.35671	T	0.21	.	8.0108	0.30353	0.16:0.7601:0.0:0.0799	.	1796;1784;1784	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	1784;1796;1796;1796	ENSP00000348573:H1784Y;ENSP00000351922:H1796Y;ENSP00000350813:H1796Y	ENSP00000348573:H1784Y	H	+	1	0	AKAP9	91512445	0.242000	0.23868	0.854000	0.33618	0.761000	0.43186	0.842000	0.27627	2.694000	0.91930	0.650000	0.86243	CAT		PASS	0.408	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	34	18	34	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146607	92146607	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:92146607G>A	ENST00000248633.4	-	5	1317	c.1222C>T	c.(1222-1224)Cat>Tat	p.H408Y	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.H408Y	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	408					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.H408Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCCAAGATGGAGAACTTCT	0.328																																						uc003uly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1222-1224)CAT>TAT		peroxin1							113.0	117.0	116.0					7																	92146607		2201	4299	6500	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146607G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1222C>T	7.37:g.92146607G>A	ENSP00000248633:p.His408Tyr					PEX1_uc011khr.1_Missense_Mutation_p.H200Y|PEX1_uc010ley.2_Missense_Mutation_p.H408Y|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.H408Y	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1318	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	408					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1222C>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490264	0.64074	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94931	-3.48;-3.56	5.94	5.94	0.96194	.	0.191979	0.56097	D	0.000040	D	0.96087	0.8725	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	D	0.94244	0.7487	10	0.29301	T	0.29	-20.2653	20.3632	0.98871	0.0:0.0:1.0:0.0	.	200;408	B4DER6;O43933	.;PEX1_HUMAN	Y	408	ENSP00000248633:H408Y;ENSP00000394413:H408Y	ENSP00000248633:H408Y	H	-	1	0	PEX1	91984543	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.959000	0.63666	2.826000	0.97356	0.561000	0.74099	CAT		PASS	0.328	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		22	51	22	51	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93098044	93098044	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:93098044C>T	ENST00000394441.1	-	6	819	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CALCR_ENST00000421592.1_Silent_p.G168G|CALCR_ENST00000360249.4_Silent_p.G168G|CALCR_ENST00000426151.1_Silent_p.G168G|CALCR_ENST00000359558.2_Silent_p.G186G	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	186					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.G186G(1)|p.G168G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ACACGAAAATCCCCAGGGAAA	0.388																																						uc003umv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(556-558)GGG>GGA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						110.0	104.0	106.0					7																	93098044		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93098044C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.504G>A	7.37:g.93098044C>T						CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.G168G|CALCR_uc003umw.2_Silent_p.G168G	p.G186G	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		7	819	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		168			Helical; Name=1; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.558G>A	CCDS5631.1																																																																																				PASS	0.388	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		16	36	16	36	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94035589	94035589	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94035589G>A	ENST00000297268.6	+	12	1039	c.568G>A	c.(568-570)Gga>Aga	p.G190R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	190			Missing (in OI4). {ECO:0000269|PubMed:1642148}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G190R(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGATTGAAGGGACAGCCCGG	0.363										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(568-570)GGA>AGA		alpha 2 type I collagen precursor	Collagenase(DB00048)						97.0	94.0	95.0					7																	94035589		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94035589G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.568G>A	7.37:g.94035589G>A	ENSP00000297268:p.Gly190Arg	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Intron	p.G190R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	1039	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		190		Missing (in OI4).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.568G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768520	0.69878	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99353	-5.77	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97556	1.0095	10	0.87932	D	0	.	19.5285	0.95215	0.0:0.0:1.0:0.0	.	190	P08123	CO1A2_HUMAN	R	190;191	ENSP00000297268:G190R	ENSP00000297268:G190R	G	+	1	0	COL1A2	93873525	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.140000	0.71738	2.880000	0.98712	0.650000	0.86243	GGA		PASS	0.363	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		8	23	8	23	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94052291	94052291	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94052291C>T	ENST00000297268.6	+	40	2897	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	809			Missing (in OI2). {ECO:0000269|PubMed:1339453}.|Missing (in OI2). {ECO:0000269|PubMed:18996919}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P809L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTCCTGGTCCCCCTGGTCCT	0.537										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2425-2427)CCC>CTC		alpha 2 type I collagen precursor	Collagenase(DB00048)						160.0	158.0	159.0					7																	94052291		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052291C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2426C>T	7.37:g.94052291C>T	ENSP00000297268:p.Pro809Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.P809L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2897	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		809		Missing (in OI2A).|Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2426C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356469	0.82243	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96885	-4.16	5.08	5.08	0.68730	.	0.256319	0.39210	N	0.001437	D	0.94905	0.8353	L	0.54863	1.705	0.49798	D	0.999824	B	0.06786	0.001	B	0.08055	0.003	D	0.92002	0.5611	10	0.56958	D	0.05	.	18.8488	0.92218	0.0:1.0:0.0:0.0	.	809	P08123	CO1A2_HUMAN	L	809;810	ENSP00000297268:P809L	ENSP00000297268:P809L	P	+	2	0	COL1A2	93890227	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.908000	0.56355	2.538000	0.85594	0.563000	0.77884	CCC		PASS	0.537	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		40	85	40	85	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94054481	94054481	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94054481C>T	ENST00000297268.6	+	42	3197	c.2726C>T	c.(2725-2727)cCt>cTt	p.P909L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	909					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P909L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTCCTCCTGGTGCTGTG	0.517										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2725-2727)CCT>CTT		alpha 2 type I collagen precursor	Collagenase(DB00048)						136.0	130.0	132.0					7																	94054481		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94054481C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2726C>T	7.37:g.94054481C>T	ENSP00000297268:p.Pro909Leu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P909L	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		42	3197	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		909					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2726C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007395	0.75046	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.97066	-4.23	5.49	5.49	0.81192	.	0.364959	0.29053	N	0.013295	D	0.96651	0.8907	M	0.75085	2.285	0.47441	D	0.999426	P	0.37688	0.605	B	0.37480	0.251	D	0.96890	0.9652	10	0.72032	D	0.01	.	19.7568	0.96296	0.0:1.0:0.0:0.0	.	909	P08123	CO1A2_HUMAN	L	909;910	ENSP00000297268:P909L	ENSP00000297268:P909L	P	+	2	0	COL1A2	93892417	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.716000	0.61916	2.765000	0.95021	0.591000	0.81541	CCT		PASS	0.517	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		12	25	12	25	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94180720	94180720	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94180720G>A	ENST00000297273.4	+	15	2173	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	629						integral component of membrane (GO:0016021)		p.G629E(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTTCTGAAGGAAAGGGTGAA	0.303																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1885-1887)GGA>GAA		CAS1 domain containing 1 precursor							60.0	61.0	61.0					7																	94180720		2202	4295	6497	SO:0001583	missense	64921					integral to membrane		g.chr7:94180720G>A	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1886G>A	7.37:g.94180720G>A	ENSP00000297273:p.Gly629Glu					CASD1_uc003unj.3_Missense_Mutation_p.G629E	p.G629E	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		15	2113	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		629					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1886G>A	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823904	0.71143	.	.	ENSG00000127995	ENST00000297273	T	0.40476	1.03	5.63	4.75	0.60458	.	0.103354	0.64402	D	0.000003	T	0.37812	0.1017	L	0.43152	1.355	0.54753	D	0.999988	B;B	0.16603	0.018;0.018	B;B	0.17722	0.019;0.019	T	0.18366	-1.0339	10	0.49607	T	0.09	.	14.6411	0.68726	0.0711:0.0:0.9289:0.0	.	629;629	Q8WZ77;Q96PB1	.;CASD1_HUMAN	E	629	ENSP00000297273:G629E	ENSP00000297273:G629E	G	+	2	0	CASD1	94018656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.626000	0.83164	1.526000	0.49068	0.563000	0.77884	GGA		PASS	0.303	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		4	11	4	11	---	---	---	---
SGCE	8910	broad.mit.edu	37	7	94232748	94232748	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94232748C>T	ENST00000265735.7	-	6	789	c.679G>A	c.(679-681)Ggt>Agt	p.G227S	SGCE_ENST00000415788.2_Missense_Mutation_p.G263S|SGCE_ENST00000437425.2_Missense_Mutation_p.G186S|SGCE_ENST00000447873.1_Missense_Mutation_p.G227S|SGCE_ENST00000445866.2_Missense_Mutation_p.G227S|SGCE_ENST00000428696.2_Missense_Mutation_p.G227S	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	227					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)	p.G227S(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACATCTGCACCAACCATGACA	0.348																																						uc003unl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(679-681)GGT>AGT		sarcoglycan, epsilon isoform 2							83.0	79.0	80.0					7																	94232748		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94232748C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.679G>A	7.37:g.94232748C>T	ENSP00000265735:p.Gly227Ser					SGCE_uc003unk.2_Missense_Mutation_p.G59S|SGCE_uc003unm.2_Missense_Mutation_p.G227S|SGCE_uc003unn.2_Missense_Mutation_p.G227S|SGCE_uc011kic.1_Missense_Mutation_p.G186S|SGCE_uc011kid.1_Missense_Mutation_p.G263S	p.G227S	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	790	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		227			Extracellular (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.679G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946414	0.73672	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16;-6.16;-6.16	5.01	5.01	0.66863	.	0.052440	0.85682	D	0.000000	D	0.99527	0.9831	M	0.69358	2.11	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.947;1.0;1.0;0.998;0.999	D;P;D;D;D;D	0.85130	0.997;0.741;0.997;0.994;0.966;0.985	D	0.98550	1.0636	10	0.87932	D	0	-29.1392	19.189	0.93656	0.0:1.0:0.0:0.0	.	263;186;227;227;227;227	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	S	227;227;186;227;227;263	ENSP00000265735:G227S;ENSP00000398930:G227S;ENSP00000394061:G186S;ENSP00000388734:G227S;ENSP00000397536:G227S;ENSP00000405313:G263S	ENSP00000265735:G227S	G	-	1	0	SGCE	94070684	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.456000	0.80751	2.705000	0.92388	0.563000	0.77884	GGT		PASS	0.348	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			8	23	8	23	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293051	94293052	+	Missense_Mutation	DNP	CC	CC	TT	rs147863226		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94293051_94293052CC>TT	ENST00000482108.1	+	2	662_663	c.183_184CC>TT	c.(181-186)ctCCgc>ctTTgc	p.R62C	PEG10_ENST00000488574.1_Missense_Mutation_p.R62C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	62					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R62C(2)|p.L61L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACATCGAGCTCCGCGGTGCTGC	0.594																																						uc011kie.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(409-411)CTC>CTT|c.(412-414)CGC>TGC		paternally expressed 10 isoform RF1																																				SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293051C>T|g.chr7:94293052C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	Exception_encountered	7.37:g.94293051_94293052delinsTT	ENSP00000417587:p.Arg62Cys						p.L137L|p.R138C	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	628|629	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		61|62					Q96A68|Q9UPV1	Silent|Missense_Mutation	SNP	ENST00000482108.1	37	c.411C>T|c.412C>T	CCDS55126.1																																																																																				PASS	0.594	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		5	9	5	9	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293196	94293196	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94293196G>A	ENST00000482108.1	+	2	807	c.328G>A	c.(328-330)Gat>Aat	p.D110N	PEG10_ENST00000488574.1_Missense_Mutation_p.D110N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	110	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D110N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGCACCAGGGATTTCTCAGT	0.567																																						uc011kie.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(556-558)GAT>AAT		paternally expressed 10 isoform RF1							72.0	76.0	74.0					7																	94293196		2025	4165	6190	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293196G>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.328G>A	7.37:g.94293196G>A	ENSP00000417587:p.Asp110Asn						p.D186N	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	773	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		110			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.556G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081161	0.55753	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.11712	2.75;2.75	4.25	4.25	0.50352	.	.	.	.	.	T	0.08802	0.0218	N	0.24115	0.695	0.21604	N	0.999627	D;D	0.53885	0.963;0.963	B;B	0.44108	0.441;0.441	T	0.22661	-1.0210	9	0.17369	T	0.5	.	12.3761	0.55281	0.0:0.0:1.0:0.0	.	186;110	B4DSP0;Q86TG7	.;PEG10_HUMAN	N	110	ENSP00000417587:D110N;ENSP00000418944:D110N	ENSP00000417587:D110N	D	+	1	0	PEG10	94131132	0.988000	0.35896	0.998000	0.56505	0.950000	0.60333	2.308000	0.43690	2.382000	0.81193	0.555000	0.69702	GAT		PASS	0.567	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		10	38	10	38	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94937442	94937442	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:94937442G>A	ENST00000222381.3	-	6	810	c.579C>T	c.(577-579)tcC>tcT	p.S193S	PON1_ENST00000542556.1_Silent_p.S193S	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	193					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.S193S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	ACATCTCCCAGGATTGTAAGT	0.398																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(577-579)TCC>TCT		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						130.0	108.0	115.0					7																	94937442		2203	4300	6503	SO:0001819	synonymous_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94937442G>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.579C>T	7.37:g.94937442G>A						PON1_uc011kih.1_Silent_p.S193S	p.S193S	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		6	676	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		193					B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	c.579C>T	CCDS5638.1																																																																																				PASS	0.398	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		22	54	22	54	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95167003	95167003	+	Missense_Mutation	SNP	C	C	T	rs267601648		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:95167003C>T	ENST00000325885.5	+	5	1284	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	405	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P405S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TAGAGCAATTCCTTTGCTTTC	0.413																																						uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1213-1215)CCT>TCT		ankyrin repeat and SOCS box-containing protein 4							185.0	170.0	175.0					7																	95167003		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95167003C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1213C>T	7.37:g.95167003C>T	ENSP00000321388:p.Pro405Ser						p.P405S	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1213	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		405			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1213C>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361286	0.41801	.	.	ENSG00000005981	ENST00000325885	T	0.42131	0.98	4.96	4.96	0.65561	SOCS protein, C-terminal (3);	0.190371	0.45867	D	0.000331	T	0.50752	0.1634	N	0.21097	0.63	0.80722	D	1	D	0.65815	0.995	D	0.64506	0.926	T	0.54944	-0.8217	10	0.56958	D	0.05	-43.4295	18.6112	0.91285	0.0:1.0:0.0:0.0	.	405	Q9Y574	ASB4_HUMAN	S	405	ENSP00000321388:P405S	ENSP00000321388:P405S	P	+	1	0	ASB4	95004939	0.997000	0.39634	1.000000	0.80357	0.381000	0.30169	3.812000	0.55628	2.471000	0.83476	0.591000	0.81541	CCT		PASS	0.413	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		21	64	21	64	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95616462	95616462	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:95616462C>T	ENST00000324972.6	+	9	1082	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.L280F|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.L277F|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.L260F|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.L260F|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.L280F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	297					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.L297F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGACTGGTCCCTCCAGGTAAG	0.438																																						uc003uoc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(889-891)CTC>TTC		dynein, cytoplasmic 1, intermediate chain 1							190.0	186.0	187.0					7																	95616462		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95616462C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.889C>T	7.37:g.95616462C>T	ENSP00000320130:p.Leu297Phe					DYNC1I1_uc003uod.3_Missense_Mutation_p.L280F|DYNC1I1_uc003uob.2_Missense_Mutation_p.L260F|DYNC1I1_uc003uoe.3_Missense_Mutation_p.L277F|DYNC1I1_uc010lfl.2_Missense_Mutation_p.L286F	p.L297F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		9	1166	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		297			WD 1.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.889C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801280	0.50315	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.74106	-0.58;-0.58;-0.81;-0.58;-0.58;-0.58	3.86	2.98	0.34508	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.228673	0.37437	N	0.002090	T	0.68997	0.3062	L	0.34521	1.04	0.40834	D	0.983619	B;B;B;B;B	0.29531	0.159;0.247;0.247;0.159;0.029	B;B;B;B;B	0.39660	0.162;0.306;0.306;0.162;0.062	T	0.72453	-0.4289	10	0.87932	D	0	-12.6206	12.3518	0.55153	0.0:0.916:0.0:0.084	.	280;277;280;297;260	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	F	280;297;260;277;260;280	ENSP00000392337:L280F;ENSP00000320130:L297F;ENSP00000438377:L260F;ENSP00000398118:L277F;ENSP00000352348:L260F;ENSP00000412444:L280F	ENSP00000320130:L297F	L	+	1	0	DYNC1I1	95454398	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	2.360000	0.44151	1.210000	0.43336	0.563000	0.77884	CTC		PASS	0.438	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		63	119	63	119	---	---	---	---
TAC1	6863	broad.mit.edu	37	7	97363037	97363037	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:97363037G>A	ENST00000319273.5	+	3	423	c.126G>A	c.(124-126)gaG>gaA	p.E42E	TAC1_ENST00000346867.4_Silent_p.E42E|TAC1_ENST00000350485.4_Silent_p.E42E	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	42					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.E42E(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					TCTCCCAGGAGGAACTGCCGG	0.607																																						uc003uop.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(124-126)GAG>GAA		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						81.0	76.0	77.0					7																	97363037		2203	4300	6503	SO:0001819	synonymous_variant	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97363037G>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.126G>A	7.37:g.97363037G>A						TAC1_uc003uoq.3_Silent_p.E42E|TAC1_uc003uor.3_Silent_p.E42E|TAC1_uc003uos.3_Silent_p.E42E	p.E42E	NM_003182	NP_003173	P20366	TKN1_HUMAN			3	372	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		42					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	ENST00000319273.5	37	c.126G>A	CCDS5649.1																																																																																				PASS	0.607	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		4	29	4	29	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97481714	97481714	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:97481714C>T	ENST00000394309.3	-	13	2014	c.1543G>A	c.(1543-1545)Gga>Aga	p.G515R	ASNS_ENST00000444334.1_Missense_Mutation_p.G494R|ASNS_ENST00000422745.1_Missense_Mutation_p.G494R|ASNS_ENST00000437628.1_Missense_Mutation_p.G432R|ASNS_ENST00000175506.4_Missense_Mutation_p.G515R|ASNS_ENST00000455086.1_Missense_Mutation_p.G432R|ASNS_ENST00000394308.3_Missense_Mutation_p.G515R	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	515	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.G515R(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TAGTAATATCCTTCTTTGGTT	0.453																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1543-1545)GGA>AGA		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						161.0	155.0	157.0					7																	97481714		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97481714C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1543G>A	7.37:g.97481714C>T	ENSP00000377846:p.Gly515Arg					ASNS_uc011kin.1_Missense_Mutation_p.G432R|ASNS_uc003uou.3_Missense_Mutation_p.G515R|ASNS_uc003uov.3_Missense_Mutation_p.G515R|ASNS_uc011kio.1_Missense_Mutation_p.G494R|ASNS_uc003uow.3_Missense_Mutation_p.G494R|ASNS_uc003uox.3_Missense_Mutation_p.G432R	p.G515R	NM_133436	NP_597680	P08243	ASNS_HUMAN			13	2049	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		515			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1543G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419361	0.62622	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.42900	0.97;0.97;0.96;0.97;0.97;0.96;0.97	5.23	5.23	0.72850	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.222773	0.45361	D	0.000369	T	0.45155	0.1328	M	0.69358	2.11	0.49299	D	0.999775	P	0.43633	0.813	B	0.39562	0.303	T	0.54029	-0.8354	10	0.87932	D	0	-11.015	16.6738	0.85273	0.0:1.0:0.0:0.0	.	515	P08243	ASNS_HUMAN	R	515;515;432;515;494;432;494	ENSP00000175506:G515R;ENSP00000377846:G515R;ENSP00000414379:G432R;ENSP00000377845:G515R;ENSP00000414901:G494R;ENSP00000408472:G432R;ENSP00000406994:G494R	ENSP00000175506:G515R	G	-	1	0	ASNS	97319650	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.626000	0.54245	2.609000	0.88269	0.561000	0.74099	GGA		PASS	0.453	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		27	67	27	67	---	---	---	---
ASNS	440	broad.mit.edu	37	7	97482657	97482657	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:97482657G>A	ENST00000394309.3	-	11	1751	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	ASNS_ENST00000444334.1_Missense_Mutation_p.S406F|ASNS_ENST00000422745.1_Missense_Mutation_p.S406F|ASNS_ENST00000437628.1_Missense_Mutation_p.S344F|ASNS_ENST00000175506.4_Missense_Mutation_p.S427F|ASNS_ENST00000455086.1_Missense_Mutation_p.S344F|ASNS_ENST00000394308.3_Missense_Mutation_p.S427F	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	427	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)	p.S427F(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAAGTAATAGGAAGAAAATCG	0.343																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1279-1281)TCC>TTC		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						70.0	72.0	71.0					7																	97482657		2203	4299	6502	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482657G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1280C>T	7.37:g.97482657G>A	ENSP00000377846:p.Ser427Phe					ASNS_uc011kin.1_Missense_Mutation_p.S344F|ASNS_uc003uou.3_Missense_Mutation_p.S427F|ASNS_uc003uov.3_Missense_Mutation_p.S427F|ASNS_uc011kio.1_Missense_Mutation_p.S406F|ASNS_uc003uow.3_Missense_Mutation_p.S406F|ASNS_uc003uox.3_Missense_Mutation_p.S344F	p.S427F	NM_133436	NP_597680	P08243	ASNS_HUMAN			11	1786	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		427			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1280C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349339	0.61183	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	3.81	2.92	0.33932	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.116511	0.56097	D	0.000022	T	0.64735	0.2625	M	0.85197	2.74	0.44006	D	0.996718	D	0.53462	0.96	P	0.57960	0.83	T	0.70777	-0.4780	10	0.87932	D	0	-13.2948	10.9541	0.47347	0.0:0.0:0.8115:0.1885	.	427	P08243	ASNS_HUMAN	F	427;427;344;427;406;344;406	ENSP00000175506:S427F;ENSP00000377846:S427F;ENSP00000414379:S344F;ENSP00000377845:S427F;ENSP00000414901:S406F;ENSP00000408472:S344F;ENSP00000406994:S406F	ENSP00000175506:S427F	S	-	2	0	ASNS	97320593	1.000000	0.71417	0.991000	0.47740	0.730000	0.41778	5.420000	0.66441	1.165000	0.42670	-0.314000	0.08810	TCC		PASS	0.343	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		18	40	18	40	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97854118	97854118	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:97854118G>A	ENST00000447648.2	-	19	2984	c.2685C>T	c.(2683-2685)ttC>ttT	p.F895F	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.F897F			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	895					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F896F(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTTACGCAGGGAAGTCGCTGG	0.632																																						uc003upg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2683-2685)TTC>TTT		tectonin beta-propeller repeat containing 1							20.0	24.0	23.0					7																	97854118		2017	4160	6177	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97854118G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2685C>T	7.37:g.97854118G>A							p.F895F	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			19	2890	-			895					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.2685C>T	CCDS47648.1																																																																																				PASS	0.632	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		3	3	3	3	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99026789	99026790	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:99026789_99026790GG>AA	ENST00000292478.4	-	5	1101_1102	c.851_852CC>TT	c.(850-852)aCC>aTT	p.T284I	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T333I|PTCD1_ENST00000555673.1_Missense_Mutation_p.T333I|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	284					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.T284I(2)|p.T284T(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAACTGAAGGTCTCCTCTGT	0.584																																						uc003uqh.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(850-852)ACC>ACT|c.(850-852)ACC>ATC		pentatricopeptide repeat domain 1																																				SO:0001583	missense	26024							g.chr7:99026789G>A|g.chr7:99026790G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.851_852delinsAA	7.37:g.99026789_99026790delinsAA	ENSP00000292478:p.Thr284Ile					PTCD1_uc011kiw.1_Silent_p.T333T|PTCD1_uc011kiw.1_Missense_Mutation_p.T333I	p.T284T|p.T284I	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	983|982	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		284			PPR 5.		Q3ZB78|Q66K60|Q9UDV2	Silent|Missense_Mutation	SNP	ENST00000292478.4	37	c.852C>T|c.851C>T	CCDS34691.1																																																																																				PASS	0.584	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		16	54|53	16	53	---	---	---	---
CYP3A7	1551	broad.mit.edu	37	7	99313520	99313520	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:99313520C>T	ENST00000336374.2	-	7	533	c.531G>A	c.(529-531)ggG>ggA	p.G177G	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	177					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)|oxygen binding (GO:0019825)	p.G177G(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGCTGTAGGCCCCAAAGACGC	0.458																																						uc003uru.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(529-531)GGG>GGA		cytochrome P450, family 3, subfamily A,							151.0	136.0	141.0					7																	99313520		2203	4298	6501	SO:0001819	synonymous_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99313520C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.531G>A	7.37:g.99313520C>T						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.G177G	NM_000765	NP_000756	P24462	CP3A7_HUMAN			7	636	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		177					A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	c.531G>A	CCDS5673.1																																																																																				PASS	0.458	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			21	56	21	56	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	99999549	99999549	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:99999549C>T	ENST00000398027.2	-	17	1834	c.1587G>A	c.(1585-1587)agG>agA	p.R529R	ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000490721.1_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	529							zinc ion binding (GO:0008270)	p.R529R(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTTCTTTCCTTCCCATTC	0.542																																						uc003uut.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1585-1587)AGG>AGA		zinc finger, CW type with PWWP domain 1							132.0	128.0	129.0					7																	99999549		1931	4142	6073	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99999549C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1587G>A	7.37:g.99999549C>T						ZCWPW1_uc011kjq.1_Silent_p.R409R|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Intron|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_RNA	p.R529R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			17	1835	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		529					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1587G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	3.579	-0.085960	0.07097	.	.	ENSG00000078487	ENST00000379559	.	.	.	4.8	1.82	0.25136	.	.	.	.	.	T	0.24774	0.0601	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	4	.	.	.	-0.0014	4.2932	0.10888	0.0:0.6044:0.191:0.2046	.	.	.	.	K	461	.	.	E	-	1	0	ZCWPW1	99837485	0.000000	0.05858	0.088000	0.20740	0.082000	0.17680	-0.746000	0.04829	0.735000	0.32537	0.655000	0.94253	GAA		PASS	0.542	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		31	67	31	67	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028584	100028585	+	Missense_Mutation	DNP	CC	CC	TT	rs567295063		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100028584_100028585CC>TT	ENST00000310512.2	+	1	1331_1332	c.943_944CC>TT	c.(943-945)CCc>TTc	p.P315F	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	315					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.P315S(1)|p.P315F(1)|p.P315L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCCCCCAACCCTATGAACTC	0.653																																						uc003uuw.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)	1						c.(943-945)CCC>TCC|c.(943-945)CCC>CTC		bin3, bicoid-interacting 3																																				SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028584C>T|g.chr7:100028585C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	Exception_encountered	7.37:g.100028584_100028585delinsTT	ENSP00000308546:p.Pro315Phe					ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	p.P315S|p.P315L	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	1056|1057	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		315					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.943C>T|c.944C>T	CCDS5693.1																																																																																				PASS	0.653	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			19|20	55|56	19	55	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100350724	100350724	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100350724C>T	ENST00000348028.3	+	0	3161				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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.A999V(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)			AAGCTCACAGCCCTGAGGCCA	0.572																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2995-2997)GCC>GTC		zonadhesin isoform 3							123.0	146.0	139.0					7																	100350724		1938	4134	6072			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350724C>T	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.100350724C>T						ZAN_uc003uwk.2_Missense_Mutation_p.A999V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.A999V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	3161	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		999			66 X heptapeptide repeats (approximate) (mucin-like domain).|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.2996C>T		.	.	.	.	.	.	.	.	.	.	C	12.75	2.031686	0.35797	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71934	-0.61;-0.61;-0.61	2.76	-1.32	0.09201	.	3.043780	0.01363	N	0.012304	T	0.59528	0.2200	L	0.34521	1.04	0.09310	N	0.999998	P;B	0.37370	0.592;0.118	B;B	0.35688	0.099;0.208	T	0.52155	-0.8613	10	0.56958	D	0.05	.	6.355	0.21397	0.0:0.4863:0.0:0.5137	.	999;999	F5H0T8;Q9Y493	.;ZAN_HUMAN	V	999	ENSP00000445943:A999V;ENSP00000445091:A999V;ENSP00000444427:A999V	ENSP00000423579:A999V	A	+	2	0	ZAN	100188660	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.553000	0.06012	-0.323000	0.08602	0.638000	0.83543	GCC		PASS	0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		38	49	38	49	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100377269	100377269	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100377269C>T	ENST00000348028.3	+	0	6683				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_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.F2172F(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)			TCTGTGAGTTCGGAGGTCTCT	0.652																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6517-6519)TTC>TTT		zonadhesin isoform 3																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377269C>T	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.100377269C>T						ZAN_uc003uwk.2_Silent_p.F2173F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	p.F2173F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6684	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2173			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6519C>T																																																																																					PASS	0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	6	3	6	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100405041	100405041	+	Silent	SNP	G	G	A	rs373776011		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100405041G>A	ENST00000358173.3	-	13	2748	c.2280C>T	c.(2278-2280)ggC>ggT	p.G760G	EPHB4_ENST00000360620.3_Silent_p.G760G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	760	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G760G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATCGGGAAAGGCCAAAGTCAG	0.562																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(2278-2280)GGC>GGT		EPH receptor B4 precursor		G		0,4406		0,0,2203	172.0	134.0	147.0		2280	1.2	1.0	7		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHB4	NM_004444.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		760/988	100405041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100405041G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2280C>T	7.37:g.100405041G>A						EPHB4_uc003uwm.1_Silent_p.G667G|EPHB4_uc010lhj.1_Silent_p.G760G	p.G760G	NM_004444	NP_004435	P54760	EPHB4_HUMAN			13	2771	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		760			Cytoplasmic (Potential).|Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.2280C>T	CCDS5706.1																																																																																				PASS	0.562	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		21	51	21	51	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678116	100678116	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100678116C>T	ENST00000306151.4	+	3	3483	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1140	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1140*(1)|p.S1140L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTACA	0.547																																						uc003uxp.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3418-3420)TCA>TTA		mucin 17 precursor							382.0	337.0	352.0					7																	100678116		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678116C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3419C>T	7.37:g.100678116C>T	ENSP00000302716:p.Ser1140Leu					MUC17_uc010lho.1_RNA	p.S1140L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3472	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1140			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3419C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.169	0.029861	0.08101	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.899	0.899	0.19271	.	.	.	.	.	T	0.02012	0.0063	L	0.29908	0.895	0.09310	N	1	B	0.31931	0.347	B	0.25884	0.064	T	0.47142	-0.9140	9	0.13108	T	0.6	.	7.6806	0.28511	0.0:1.0:0.0:0.0	.	1140	Q685J3	MUC17_HUMAN	L	1140	ENSP00000302716:S1140L	ENSP00000302716:S1140L	S	+	2	0	MUC17	100464836	0.000000	0.05858	0.002000	0.10522	0.060000	0.15804	0.566000	0.23593	0.797000	0.33971	0.196000	0.17591	TCA		PASS	0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		92	214	92	214	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100681856	100681856	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:100681856A>G	ENST00000306151.4	+	3	7223	c.7159A>G	c.(7159-7161)Atg>Gtg	p.M2387V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2387	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.M2387V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGATACTAGCATGCCAACCTC	0.493																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7159-7161)ATG>GTG		mucin 17 precursor							316.0	304.0	308.0					7																	100681856		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681856A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7159A>G	7.37:g.100681856A>G	ENSP00000302716:p.Met2387Val					MUC17_uc010lho.1_RNA	p.M2387V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7212	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2387			Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7159A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.572370	0.00887	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.24	-2.47	0.06442	.	.	.	.	.	T	0.01387	0.0045	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47522	-0.9111	9	0.18276	T	0.48	.	3.643	0.08174	0.3566:0.4566:0.1868:0.0	.	2387	Q685J3	MUC17_HUMAN	V	2387	ENSP00000302716:M2387V	ENSP00000302716:M2387V	M	+	1	0	MUC17	100468576	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.235000	0.09016	-2.025000	0.00935	-1.450000	0.01041	ATG		PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		75	210	75	210	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101840495	101840495	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:101840495C>T	ENST00000292535.7	+	15	1842	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	CUX1_ENST00000550008.2_Missense_Mutation_p.R602C|CUX1_ENST00000546411.2_Missense_Mutation_p.R500C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R602C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.R613C|CUX1_ENST00000556210.1_Missense_Mutation_p.R500C	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	602					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R602C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACTGACTGTTCGTGGCAAGGA	0.512																																						uc003uyx.3																			1	Substitution - Missense(1)	p.R602R(1)	lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1804-1806)CGT>TGT		cut-like homeobox 1 isoform a							82.0	78.0	79.0					7																	101840495		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840495C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1804C>T	7.37:g.101840495C>T	ENSP00000292535:p.Arg602Cys					CUX1_uc003uys.3_Missense_Mutation_p.R613C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.R602C	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1842	+			602			CUT 1.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1804C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395164	0.62066	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62105	0.07;0.06;0.09;0.09;0.05;0.09	5.55	5.55	0.83447	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.75051	-0.3454	10	0.87932	D	0	-16.3413	15.2426	0.73482	0.149:0.851:0.0:0.0	.	602;613	P39880;P39880-3	CUX1_HUMAN;.	C	613;602;602;602;500;500	ENSP00000353401:R613C;ENSP00000292535:R602C;ENSP00000446630:R602C;ENSP00000447373:R602C;ENSP00000450125:R500C;ENSP00000451558:R500C	ENSP00000292535:R602C	R	+	1	0	CUX1	101627215	0.996000	0.38824	0.788000	0.31933	0.930000	0.56654	3.195000	0.51013	2.614000	0.88457	0.561000	0.74099	CGT		PASS	0.512	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		21	35	21	35	---	---	---	---
ORAI2	80228	broad.mit.edu	37	7	102087217	102087217	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:102087217C>T	ENST00000356387.2	+	4	718	c.483C>T	c.(481-483)ttC>ttT	p.F161F	ORAI2_ENST00000403646.3_Silent_p.F161F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.2_Silent_p.F161F|ORAI2_ENST00000473939.1_Silent_p.F161F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	161						growth cone (GO:0030426)|integral component of membrane (GO:0016021)		p.F161F(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TCCTACTCTTCCTGGCCGAGG	0.662																																						uc010lhz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(481-483)TTC>TTT		ORAI calcium release-activated calcium modulator							150.0	151.0	150.0					7																	102087217		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087217C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.483C>T	7.37:g.102087217C>T						ORAI2_uc003uzj.2_Silent_p.F161F|ORAI2_uc003uzk.2_Silent_p.F161F|ORAI2_uc011kks.1_Silent_p.F84F	p.F161F	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN			4	718	+			161			Helical; (Potential).		Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.483C>T	CCDS5722.1																																																																																				PASS	0.662	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		41	73	41	73	---	---	---	---
LRWD1	222229	broad.mit.edu	37	7	102106347	102106347	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:102106347C>T	ENST00000292616.5	+	2	316	c.164C>T	c.(163-165)tCt>tTt	p.S55F	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	55					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.S55F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CTTGACCTGTCTAACAACCAC	0.627																																						uc003uzn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(163-165)TCT>TTT		leucine-rich repeats and WD repeat domain							48.0	49.0	49.0					7																	102106347		2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106347C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.164C>T	7.37:g.102106347C>T	ENSP00000292616:p.Ser55Phe					ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	p.S55F	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			2	302	+			55			LRR 2.		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.164C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107625	0.77096	.	.	ENSG00000161036	ENST00000292616	T	0.24908	1.83	5.04	4.16	0.48862	.	0.102515	0.64402	N	0.000001	T	0.51873	0.1700	M	0.82056	2.57	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.57670	-0.7771	10	0.87932	D	0	3.161	12.6808	0.56920	0.0:0.9197:0.0:0.0803	.	55	Q9UFC0	LRWD1_HUMAN	F	55	ENSP00000292616:S55F	ENSP00000292616:S55F	S	+	2	0	LRWD1	101893352	1.000000	0.71417	0.838000	0.33150	0.526000	0.34562	6.846000	0.75399	1.125000	0.41998	0.561000	0.74099	TCT		PASS	0.627	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892		6	27	6	27	---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103008052	103008052	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103008052C>T	ENST00000435765.1	+	11	1448	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	PSMC2_ENST00000544811.1_Missense_Mutation_p.P209L|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.P346L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	346					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P346L(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TTTAGCTTGCCCGATCTAGAG	0.358																																						uc003vbs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)CCC>CTC		proteasome 26S ATPase subunit 2							61.0	59.0	60.0					7																	103008052		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008052C>T	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1037C>T	7.37:g.103008052C>T	ENSP00000391211:p.Pro346Leu					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.P209L	p.P346L	NM_002803	NP_002794	P35998	PRS7_HUMAN			10	1107	+			346					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1037C>T	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437952	0.83885	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95622	-3.76;-3.76;-3.76	5.14	5.14	0.70334	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	-12.7397	18.6642	0.91483	0.0:1.0:0.0:0.0	.	346	P35998	PRS7_HUMAN	L	346;346;209	ENSP00000391211:P346L;ENSP00000292644:P346L;ENSP00000445546:P209L	ENSP00000292644:P346L	P	+	2	0	PSMC2	102795288	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.743000	0.85020	2.405000	0.81733	0.650000	0.86243	CCC		PASS	0.358	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		5	21	5	21	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103123325	103123325	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103123325G>A	ENST00000428762.1	-	63	10434	c.10275C>T	c.(10273-10275)gtC>gtT	p.V3425V	RELN_ENST00000424685.2_Silent_p.V3425V|RELN_ENST00000343529.5_Silent_p.V3425V|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000473945.1_5'UTR	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3425					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V3425V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCACAGGACGACCTCCACAT	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10273-10275)GTC>GTT		reelin isoform a							174.0	127.0	143.0					7																	103123325		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103123325G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10275C>T	7.37:g.103123325G>A						RELN_uc010liz.2_Silent_p.V3425V	p.V3425V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	63	10435	-			3425					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.10275C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	9.698	1.153589	0.21371	.	.	ENSG00000189056	ENST00000429186	.	.	.	5.83	4.04	0.47022	.	.	.	.	.	T	0.58722	0.2142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54337	-0.8309	4	.	.	.	.	8.6071	0.33780	0.2847:0.0:0.7153:0.0	.	.	.	.	L	24	.	.	S	-	2	0	RELN	102910561	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	1.012000	0.29924	0.829000	0.34733	-0.136000	0.14681	TCG		PASS	0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		17	59	17	59	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230142	103230142	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103230142C>T	ENST00000428762.1	-	28	4205	c.4046G>A	c.(4045-4047)gGa>gAa	p.G1349E	RELN_ENST00000343529.5_Missense_Mutation_p.G1349E|RELN_ENST00000424685.2_Missense_Mutation_p.G1349E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1349					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G1349E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGGAGTTTCCTTCGCATCC	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4045-4047)GGA>GAA		reelin isoform a							210.0	186.0	194.0					7																	103230142		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103230142C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4046G>A	7.37:g.103230142C>T	ENSP00000392423:p.Gly1349Glu					RELN_uc010liz.2_Missense_Mutation_p.G1349E	p.G1349E	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4206	-			1349					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4046G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939284	0.92526	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.35421	1.32;1.31;1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.964;0.996	T	0.61637	-0.7022	10	0.87932	D	0	.	19.7009	0.96052	0.0:1.0:0.0:0.0	.	1349;1349	P78509-2;P78509	.;RELN_HUMAN	E	1349	ENSP00000392423:G1349E;ENSP00000345694:G1349E;ENSP00000388446:G1349E	ENSP00000345694:G1349E	G	-	2	0	RELN	103017378	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.227000	0.78070	2.737000	0.93849	0.563000	0.77884	GGA		PASS	0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		35	75	35	75	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103252186	103252186	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103252186C>T	ENST00000428762.1	-	21	2926	c.2767G>A	c.(2767-2769)Gga>Aga	p.G923R	RELN_ENST00000343529.5_Missense_Mutation_p.G923R|RELN_ENST00000424685.2_Missense_Mutation_p.G923R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	923					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G923R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGGATGCTCCTATCTGCATT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2767-2769)GGA>AGA		reelin isoform a							159.0	147.0	151.0					7																	103252186		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103252186C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2767G>A	7.37:g.103252186C>T	ENSP00000392423:p.Gly923Arg					RELN_uc010liz.2_Missense_Mutation_p.G923R	p.G923R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	21	2927	-			923					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2767G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794637	0.90453	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25085	1.82;1.82;1.82	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34304	-0.9834	10	0.72032	D	0.01	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	923;923	P78509-2;P78509	.;RELN_HUMAN	R	923	ENSP00000392423:G923R;ENSP00000345694:G923R;ENSP00000388446:G923R	ENSP00000345694:G923R	G	-	1	0	RELN	103039422	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.440000	0.80464	2.760000	0.94817	0.655000	0.94253	GGA		PASS	0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	35	16	35	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103322649	103322649	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103322649G>A	ENST00000428762.1	-	11	1362	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	RELN_ENST00000343529.5_Silent_p.F401F|RELN_ENST00000424685.2_Silent_p.F401F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	401					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F401F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGCAAAATTGAACTCGCTGC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1201-1203)TTC>TTT		reelin isoform a							154.0	143.0	147.0					7																	103322649		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322649G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1203C>T	7.37:g.103322649G>A						RELN_uc010liz.2_Silent_p.F401F	p.F401F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1363	-			401					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1203C>T	CCDS47680.1																																																																																				PASS	0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		22	53	22	53	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103338452	103338452	+	Missense_Mutation	SNP	C	C	T	rs267601217		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:103338452C>T	ENST00000428762.1	-	10	1150	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RELN_ENST00000343529.5_Missense_Mutation_p.E331K|RELN_ENST00000424685.2_Missense_Mutation_p.E331K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	331					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.E331K(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			2	Substitution - Missense(2)	p.E331K(1)	lung(1)|skin(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(991-993)GAA>AAA		reelin isoform a							231.0	207.0	215.0					7																	103338452		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103338452C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.991G>A	7.37:g.103338452C>T	ENSP00000392423:p.Glu331Lys					RELN_uc010liz.2_Missense_Mutation_p.E331K	p.E331K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	10	1151	-			331					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.991G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.603090	0.87157	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	6.07	6.07	0.98685	.	0.102632	0.64402	D	0.000003	T	0.29976	0.0750	L	0.50333	1.59	0.50171	D	0.999852	B;B	0.34329	0.449;0.321	B;B	0.32864	0.154;0.073	T	0.02683	-1.1124	10	0.56958	D	0.05	.	20.6485	0.99592	0.0:1.0:0.0:0.0	.	331;331	P78509-2;P78509	.;RELN_HUMAN	K	331	ENSP00000392423:E331K;ENSP00000345694:E331K;ENSP00000388446:E331K	ENSP00000345694:E331K	E	-	1	0	RELN	103125688	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.270000	0.78493	2.891000	0.99171	0.651000	0.88453	GAA		PASS	0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		36	68	36	68	---	---	---	---
HBP1	26959	broad.mit.edu	37	7	106836297	106836297	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:106836297G>A	ENST00000222574.4	+	9	1272	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	HBP1_ENST00000468410.1_Missense_Mutation_p.M362I|HBP1_ENST00000485846.1_Missense_Mutation_p.M362I|CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	362					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.M362I(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCACACCTATGGATTCTTCTG	0.328																																						uc003vdy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1084-1086)ATG>ATA		HMG-box transcription factor 1							91.0	87.0	88.0					7																	106836297		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106836297G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1086G>A	7.37:g.106836297G>A	ENSP00000222574:p.Met362Ile					HBP1_uc011klv.1_Missense_Mutation_p.M372I|HBP1_uc003vdz.2_Missense_Mutation_p.M362I|HBP1_uc003vea.2_Missense_Mutation_p.M362I|HBP1_uc003veb.1_Missense_Mutation_p.M362I	p.M362I	NM_012257	NP_036389	O60381	HBP1_HUMAN			9	1272	+			362					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1086G>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976214	0.53720	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99014	-5.33;-5.33;-5.33	5.96	5.96	0.96718	.	0.265163	0.46442	D	0.000283	D	0.96796	0.8954	N	0.14661	0.345	0.50313	D	0.999869	B;B;B	0.16603	0.018;0.01;0.006	B;B;B	0.17979	0.009;0.02;0.009	D	0.92450	0.5969	10	0.66056	D	0.02	-20.4277	20.4084	0.99013	0.0:0.0:1.0:0.0	.	372;362;362	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	I	362;362;362;354	ENSP00000420500:M362I;ENSP00000222574:M362I;ENSP00000418738:M362I	ENSP00000222574:M362I	M	+	3	0	HBP1	106623533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.609000	0.61148	2.833000	0.97629	0.650000	0.86243	ATG		PASS	0.328	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		11	20	11	20	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107329538	107329538	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:107329538G>A	ENST00000265715.3	+	9	1266	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	348					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.E348K(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGTTCTCGGAGATGCTGGC	0.443									Pendred syndrome																													uc003vep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1042-1044)GAG>AAG		pendrin							166.0	154.0	158.0					7																	107329538		2203	4300	6503	SO:0001583	missense	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107329538G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1042G>A	7.37:g.107329538G>A	ENSP00000265715:p.Glu348Lys					SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	p.E348K	NM_000441	NP_000432	O43511	S26A4_HUMAN			9	1266	+			348			Helical; (Potential).		B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.1042G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	6.595	0.478217	0.12521	.	.	ENSG00000091137	ENST00000265715	D	0.92647	-3.08	5.62	1.41	0.22369	Sulphate transporter (1);	0.561040	0.19163	N	0.121135	T	0.78426	0.4281	N	0.05306	-0.075	0.27376	N	0.955554	B	0.06786	0.001	B	0.12837	0.008	T	0.61898	-0.6968	10	0.06365	T	0.9	.	10.6446	0.45613	0.1442:0.2999:0.5559:0.0	.	348	O43511	S26A4_HUMAN	K	348	ENSP00000265715:E348K	ENSP00000265715:E348K	E	+	1	0	SLC26A4	107116774	0.287000	0.24315	0.241000	0.24154	0.850000	0.48378	0.406000	0.21032	0.312000	0.23038	0.561000	0.74099	GAG		PASS	0.443	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		29	49	29	49	---	---	---	---
NRCAM	4897	broad.mit.edu	37	7	107834765	107834765	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:107834765G>C	ENST00000425651.2	-	13	1570	c.1571C>G	c.(1570-1572)aCg>aGg	p.T524R	NRCAM_ENST00000413765.2_Missense_Mutation_p.T505R|NRCAM_ENST00000351718.4_Missense_Mutation_p.T518R|NRCAM_ENST00000379024.4_Missense_Mutation_p.T505R|NRCAM_ENST00000379022.4_Missense_Mutation_p.T524R|NRCAM_ENST00000379028.3_Missense_Mutation_p.T524R	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	524	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T518R(1)|p.T524R(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGCAACACACGTATAAGTTCC	0.358																																						uc003vfb.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(1570-1572)ACG>AGG		neuronal cell adhesion molecule isoform A							149.0	138.0	142.0					7																	107834765		2202	4300	6502	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107834765G>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1571C>G	7.37:g.107834765G>C	ENSP00000401244:p.Thr524Arg					NRCAM_uc003vfc.2_Missense_Mutation_p.T518R|NRCAM_uc011kmk.1_Missense_Mutation_p.T519R|NRCAM_uc003vfd.2_Missense_Mutation_p.T500R|NRCAM_uc003vfe.2_Missense_Mutation_p.T500R	p.T524R	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			16	2042	-			524			Ig-like 5.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1571C>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297775	0.81025	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043979	0.85682	D	0.000000	T	0.62368	0.2422	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.997;1.0;0.997;0.993;0.911	T	0.61173	-0.7116	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	524;505;505;518;524	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	R	524;524;505;524;518;505;524;524;518	ENSP00000368314:T524R;ENSP00000407858:T505R;ENSP00000325269:T518R;ENSP00000368310:T505R;ENSP00000401244:T524R;ENSP00000368308:T524R	ENSP00000325269:T518R	T	-	2	0	NRCAM	107622001	1.000000	0.71417	0.074000	0.20217	0.657000	0.38888	9.230000	0.95299	2.861000	0.98227	0.655000	0.94253	ACG		PASS	0.358	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		24	40	24	40	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764288	110764288	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:110764288C>T	ENST00000422987.3	+	2	2291	c.1460C>T	c.(1459-1461)aCt>aTt	p.T487I	IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.T487I|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T487I|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	487	Ig-like C2-type.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T487I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AATGGCGTAACTCCCAAAGAA	0.403																																						uc003vft.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1459-1461)ACT>ATT		leucine rich repeat neuronal 3 precursor							64.0	64.0	64.0					7																	110764288		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764288C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1460C>T	7.37:g.110764288C>T	ENSP00000412417:p.Thr487Ile					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.T487I|LRRN3_uc003vfs.3_Missense_Mutation_p.T487I	p.T487I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2506	+			487			Extracellular (Potential).|Ig-like C2-type.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1460C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166503	0.38217	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.68181	-0.31;-0.31;-0.31	6.17	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.284309	0.30277	N	0.009981	T	0.73916	0.3648	M	0.91561	3.22	0.38581	D	0.950192	B	0.17465	0.022	B	0.29267	0.1	T	0.74219	-0.3736	10	0.62326	D	0.03	.	10.5814	0.45257	0.0:0.6844:0.2503:0.0653	.	487	Q9H3W5	LRRN3_HUMAN	I	487	ENSP00000312001:T487I;ENSP00000397312:T487I;ENSP00000412417:T487I	ENSP00000312001:T487I	T	+	2	0	LRRN3	110551524	0.995000	0.38212	0.918000	0.36340	0.894000	0.52154	3.278000	0.51662	0.915000	0.36847	0.655000	0.94253	ACT		PASS	0.403	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		9	56	9	56	---	---	---	---
LRRN3	54674	broad.mit.edu	37	7	110764817	110764817	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:110764817G>A	ENST00000422987.3	+	2	2820	c.1989G>A	c.(1987-1989)agG>agA	p.R663R	IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Silent_p.R663R|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.R663R|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	663					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R663R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GCTATGTGAGGAATTACTTAC	0.428																																						uc003vft.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1987-1989)AGG>AGA		leucine rich repeat neuronal 3 precursor							112.0	117.0	115.0					7																	110764817		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110764817G>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1989G>A	7.37:g.110764817G>A						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.R663R|LRRN3_uc003vfs.3_Silent_p.R663R	p.R663R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	3035	+			663			Cytoplasmic (Potential).		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.1989G>A	CCDS5754.1																																																																																				PASS	0.428	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		25	48	25	48	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111555875	111555875	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:111555875G>A	ENST00000437633.1	-	13	1407	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	DOCK4_ENST00000428084.1_Missense_Mutation_p.S384F|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	384					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.S372F(1)|p.S384F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTTGTTATGGATACTCCATG	0.373																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1150-1152)TCC>TTC		dedicator of cytokinesis 4							58.0	53.0	55.0					7																	111555875		1820	4080	5900	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111555875G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1151C>T	7.37:g.111555875G>A	ENSP00000404179:p.Ser384Phe					DOCK4_uc003vfy.2_Missense_Mutation_p.S384F|DOCK4_uc003vga.1_5'UTR	p.S384F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			13	1420	-		Acute lymphoblastic leukemia(1;0.0441)	384					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1151C>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.146752|4.146752	0.77888|0.77888	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.03094	.|4.05;4.05	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.07863|0.07863	0.0197|0.0197	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|P;B	.|0.37985	.|0.613;0.409	.|B;B	.|0.37387	.|0.248;0.118	T|T	0.02721|0.02721	-1.1119|-1.1119	5|10	.|0.72032	.|D	.|0.01	.|.	19.3311|19.3311	0.94288|0.94288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|384;384	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	S|F	372|372;384;384;372;383	.|ENSP00000410746:S384F;ENSP00000404179:S384F	.|ENSP00000345432:S372F	P|S	-|-	1|2	0|0	DOCK4|DOCK4	111343111|111343111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.322000|8.322000	0.90000|0.90000	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	CCA|TCC		PASS	0.373	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	13	7	13	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113518376	113518376	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:113518376G>A	ENST00000284601.3	-	4	2839	c.2771C>T	c.(2770-2772)tCa>tTa	p.S924L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	924					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S924L(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTTGACACTGAAATTTCAGT	0.378																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2770-2772)TCA>TTA		protein phosphatase 1, regulatory (inhibitor)							103.0	104.0	103.0					7																	113518376		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518376G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2771C>T	7.37:g.113518376G>A	ENSP00000284601:p.Ser924Leu						p.S924L	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2802	-			924					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2771C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.345742	0.01266	.	.	ENSG00000154415	ENST00000284601	T	0.18174	2.23	4.8	2.96	0.34315	.	0.658638	0.13770	N	0.363938	T	0.20740	0.0499	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15122	-1.0448	10	0.54805	T	0.06	-0.8383	11.5448	0.50688	0.1636:0.0:0.8364:0.0	.	924	Q16821	PPR3A_HUMAN	L	924	ENSP00000284601:S924L	ENSP00000284601:S924L	S	-	2	0	PPP1R3A	113305612	0.512000	0.26186	0.002000	0.10522	0.000000	0.00434	3.084000	0.50143	0.698000	0.31739	-0.813000	0.03139	TCA		PASS	0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		21	65	21	65	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558613	113558613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:113558613G>A	ENST00000284601.3	-	1	507	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	147	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.R147*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCAAAACTCGAATAATACCC	0.338																																						uc010ljy.1																			1	Substitution - Nonsense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(439-441)CGA>TGA		protein phosphatase 1, regulatory (inhibitor)							89.0	90.0	90.0					7																	113558613		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113558613G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.439C>T	7.37:g.113558613G>A	ENSP00000284601:p.Arg147*						p.R147*	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	470	-			147			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.439C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	38	6.680122	0.97755	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1246	16.7418	0.85461	0.0:0.0:0.8698:0.1302	.	.	.	.	X	147	.	ENSP00000284601:R147X	R	-	1	2	PPP1R3A	113345849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.284000	0.58983	1.561000	0.49584	0.655000	0.94253	CGA		PASS	0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		14	34	14	34	---	---	---	---
WNT2	7472	broad.mit.edu	37	7	116918396	116918396	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:116918396C>A	ENST00000265441.3	-	5	1195	c.896G>T	c.(895-897)cGg>cTg	p.R299L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	299			R -> W (in dbSNP:rs148046128). {ECO:0000269|PubMed:11449391}.		atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R299L(1)|p.N295_D302del(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCCATGCCCCGGGAAGTCAG	0.572																																						uc003viz.2																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.N295_D302del(1)	lung(1)|breast(1)	breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(895-897)CGG>CTG		wingless-type MMTV integration site family							68.0	51.0	57.0					7																	116918396		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116918396C>A	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.896G>T	7.37:g.116918396C>A	ENSP00000265441:p.Arg299Leu					WNT2_uc003vja.2_Missense_Mutation_p.R203L	p.R299L	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	5	1196	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		299		R -> W.			A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.896G>T	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780720	0.49891	.	.	ENSG00000105989	ENST00000265441	T	0.75589	-0.95	5.87	5.87	0.94306	.	0.060140	0.64402	D	0.000002	T	0.59555	0.2202	N	0.05230	-0.09	0.49582	D	0.999807	B;B	0.19200	0.034;0.034	B;B	0.24394	0.053;0.053	T	0.54629	-0.8265	10	0.37606	T	0.19	.	19.2073	0.93736	0.0:1.0:0.0:0.0	.	299;299	A4D0V1;P09544	.;WNT2_HUMAN	L	299	ENSP00000265441:R299L	ENSP00000265441:R299L	R	-	2	0	WNT2	116705632	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	4.934000	0.63491	2.780000	0.95670	0.655000	0.94253	CGG		PASS	0.572	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		3	24	3	24	---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117170987	117170987	+	Missense_Mutation	SNP	G	G	A	rs397508499		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:117170987G>A	ENST00000003084.6	+	4	440	c.308G>A	c.(307-309)gGa>gAa	p.G103E	CFTR_ENST00000454343.1_Missense_Mutation_p.G103E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	103	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.G103E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTCTTACTGGGAAGAATCATA	0.398									Cystic Fibrosis																													uc003vjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(307-309)GGA>GAA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						89.0	82.0	84.0					7																	117170987		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117170987G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.308G>A	7.37:g.117170987G>A	ENSP00000003084:p.Gly103Glu					CFTR_uc011knq.1_5'UTR	p.G103E	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	440	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		103			Helical; Name=1; (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.308G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310867	0.95629	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99885	-7.5;-2.81;-2.81;-3.2	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97324	0.9946	10	0.42905	T	0.14	-21.5904	20.263	0.98456	0.0:0.0:1.0:0.0	.	103	P13569	CFTR_HUMAN	E	22;103;103;103	ENSP00000417012:G22E;ENSP00000003084:G103E;ENSP00000403677:G103E;ENSP00000389119:G103E	ENSP00000003084:G103E	G	+	2	0	CFTR	116958223	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.420000	0.97426	2.868000	0.98415	0.555000	0.69702	GGA		PASS	0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		15	26	15	26	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117431685	117431685	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:117431685G>T	ENST00000160373.3	-	4	1656	c.1565C>A	c.(1564-1566)cCt>cAt	p.P522H	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	522	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P522H(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACCAACTGGAGGGTGGGTGCC	0.542																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1564-1566)CCT>CAT		cortactin binding protein 2							104.0	105.0	105.0					7																	117431685		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117431685G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1565C>A	7.37:g.117431685G>T	ENSP00000160373:p.Pro522His						p.P522H	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1657	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		522			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1565C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920693	0.33908	.	.	ENSG00000077063	ENST00000160373	T	0.74737	-0.87	5.6	3.75	0.43078	.	0.154392	0.64402	D	0.000016	D	0.84660	0.5521	M	0.88570	2.965	0.39345	D	0.965642	D	0.71674	0.998	P	0.59288	0.855	D	0.86567	0.1845	10	0.72032	D	0.01	5.7906	10.629	0.45525	0.0686:0.0:0.7981:0.1333	.	522	Q8WZ74	CTTB2_HUMAN	H	522	ENSP00000160373:P522H	ENSP00000160373:P522H	P	-	2	0	CTTNBP2	117218921	1.000000	0.71417	0.609000	0.28983	0.104000	0.19210	2.895000	0.48648	0.797000	0.33971	0.563000	0.77884	CCT		PASS	0.542	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		26	56	26	56	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121755143	121755143	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:121755143G>T	ENST00000393376.1	-	8	1123	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P343H			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	343	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.P343H(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGGTAATGCAGGGCAGCCTTC	0.488																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1027-1029)CCT>CAT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						132.0	121.0	125.0					7																	121755143		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121755143G>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1028C>A	7.37:g.121755143G>T	ENSP00000377040:p.Pro343His					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.P343H|AASS_uc011knw.1_Intron	p.P343H	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			8	1124	-			343			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.1028C>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803704	0.70682	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.68	5.68	0.88126	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85222	0.1027	9	0.87932	D	0	-17.5901	19.8015	0.96509	0.0:0.0:1.0:0.0	.	343	Q9UDR5	AASS_HUMAN	H	343	.	ENSP00000351834:P343H	P	-	2	0	AASS	121542379	1.000000	0.71417	0.962000	0.40283	0.396000	0.30629	9.576000	0.98192	2.678000	0.91216	0.650000	0.86243	CCT		PASS	0.488	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		5	45	5	45	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121758651	121758651	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:121758651C>T	ENST00000393376.1	-	4	601	c.506G>A	c.(505-507)aGg>aAg	p.R169K	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R169K			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	169	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.R169K(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						AGCAAGGAGCCTTAAACCCAT	0.338																																						uc003vka.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(505-507)AGG>AAG		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						86.0	78.0	81.0					7																	121758651		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121758651C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.506G>A	7.37:g.121758651C>T	ENSP00000377040:p.Arg169Lys					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R169K|AASS_uc011knw.1_Intron	p.R169K	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			4	602	-			169			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.506G>A	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	32	5.176137	0.94846	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.93	4.93	0.64822	.	0.091794	0.64402	D	0.000001	T	0.78547	0.4300	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.56700	0.804	T	0.80450	-0.1377	9	0.40728	T	0.16	-19.6245	18.3903	0.90481	0.0:1.0:0.0:0.0	.	169	Q9UDR5	AASS_HUMAN	K	169	.	ENSP00000351834:R169K	R	-	2	0	AASS	121545887	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.586000	0.87340	0.650000	0.86243	AGG		PASS	0.338	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		8	21	8	21	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122130223	122130223	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:122130223G>T	ENST00000449022.2	-	11	1783	c.1764C>A	c.(1762-1764)gcC>gcA	p.A588A	CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000412584.2_Silent_p.A588A|CADPS2_ENST00000334010.7_Silent_p.A588A|CADPS2_ENST00000313070.7_Silent_p.A588A	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	588	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.A588A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATTGACCTGTGGCCCTATACA	0.393																																						uc010lkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1762-1764)GCC>GCA		Ca2+-dependent activator protein for secretion 2							143.0	138.0	140.0					7																	122130223		1879	4118	5997	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130223G>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1764C>A	7.37:g.122130223G>T						CADPS2_uc003vkg.3_Silent_p.A288A|CADPS2_uc010lkq.2_Silent_p.A588A	p.A588A	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			11	1927	-			588			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.1764C>A	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	9.777	1.174357	0.21704	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.15	0.731	0.18277	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37911	-0.9685	4	.	.	.	-11.7198	5.349	0.16026	0.2559:0.0:0.4986:0.2455	.	.	.	.	N	237	.	.	H	-	1	0	CADPS2	121917459	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.208000	0.17415	0.183000	0.20059	0.491000	0.48974	CAC		PASS	0.393	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		31	65	31	65	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:126173069G>A	ENST00000339582.2	-	9	3175	c.2367C>T	c.(2365-2367)acC>acT	p.T789T	GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000358373.3_Silent_p.T789T|GRM8_ENST00000444921.2_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGATGCAGGTGGTATACATGG	0.408										HNSCC(24;0.065)																												uc003vlr.2																			3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2365-2367)ACC>ACT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						132.0	116.0	122.0					7																	126173069		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173069G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2367C>T	7.37:g.126173069G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T789T|GRM8_uc010lkz.1_RNA	p.T789T	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2678	-		Prostate(267;0.186)	789			Helical; Name=6; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2367C>T	CCDS5794.1																																																																																				PASS	0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			12	32	12	32	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173393	126173393	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:126173393C>T	ENST00000339582.2	-	9	2851	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.K681K|GRM8_ENST00000444921.2_Silent_p.K681K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	681					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.K681K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGACAGATTTCTTCCCCTGCT	0.512										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2041-2043)AAG>AAA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						93.0	83.0	87.0					7																	126173393		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173393C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2043G>A	7.37:g.126173393C>T		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.K681K|GRM8_uc010lkz.1_RNA	p.K681K	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2354	-		Prostate(267;0.186)	681			Cytoplasmic (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2043G>A	CCDS5794.1																																																																																				PASS	0.512	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			22	32	22	32	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127230149	127230149	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:127230149C>T	ENST00000000233.5	+	4	442	c.288C>T	c.(286-288)gaC>gaT	p.D96D	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	96					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D96D(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ACAGTAATGACCGGGAGCGGG	0.547																																						uc003vmb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(286-288)GAC>GAT		ADP-ribosylation factor 5							118.0	124.0	122.0					7																	127230149		2203	4300	6503	SO:0001819	synonymous_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127230149C>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.288C>T	7.37:g.127230149C>T						ARF5_uc010llb.1_3'UTR|FSCN3_uc003vmc.1_5'Flank	p.D96D	NM_001662	NP_001653	P84085	ARF5_HUMAN			4	324	+			96					P26437	Silent	SNP	ENST00000000233.5	37	c.288C>T	CCDS34745.1																																																																																				PASS	0.547	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		27	47	27	47	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235514	127235514	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:127235514C>T	ENST00000265825.5	+	2	517	c.298C>T	c.(298-300)Cac>Tac	p.H100Y	FSCN3_ENST00000420086.2_5'UTR|GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	100						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.H100Y(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGCGTTTCCACCGGAACAG	0.552																																						uc003vmd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(298-300)CAC>TAC		fascin 3							151.0	114.0	127.0					7																	127235514		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235514C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.298C>T	7.37:g.127235514C>T	ENSP00000265825:p.His100Tyr					FSCN3_uc003vmc.1_Missense_Mutation_p.H55Y|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.H100Y	p.H100Y	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	517	+			100					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.298C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082544	0.36758	.	.	ENSG00000106328	ENST00000265825	T	0.22336	1.96	5.59	4.7	0.59300	Fascin domain (1);Actin cross-linking (1);	0.089995	0.48767	D	0.000164	T	0.17152	0.0412	L	0.38838	1.175	0.80722	D	1	B	0.16166	0.016	B	0.18263	0.021	T	0.02567	-1.1140	10	0.42905	T	0.14	-50.5625	10.9467	0.47304	0.0:0.9097:0.0:0.0903	.	100	Q9NQT6	FSCN3_HUMAN	Y	100	ENSP00000265825:H100Y	ENSP00000265825:H100Y	H	+	1	0	FSCN3	127022750	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.166000	0.50785	2.793000	0.96121	0.655000	0.94253	CAC		PASS	0.552	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		15	27	15	27	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235654	127235654	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:127235654G>A	ENST00000265825.5	+	2	657	c.438G>A	c.(436-438)gtG>gtA	p.V146V	FSCN3_ENST00000420086.2_Silent_p.V12V|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	146						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V146V(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATGTCCACGTGATCCTCTACA	0.607																																						uc003vmd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(436-438)GTG>GTA		fascin 3							100.0	83.0	89.0					7																	127235654		2203	4300	6503	SO:0001819	synonymous_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235654G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.438G>A	7.37:g.127235654G>A						FSCN3_uc003vmc.1_Silent_p.V101V|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Silent_p.V12V|FSCN3_uc010llc.1_Silent_p.V146V	p.V146V	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	657	+			146					A4D0Z2|A6NLL7|B2RA62|B4DU68	Silent	SNP	ENST00000265825.5	37	c.438G>A	CCDS34746.1																																																																																				PASS	0.607	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		18	36	18	36	---	---	---	---
FAM71F1	84691	broad.mit.edu	37	7	128369984	128369984	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128369984C>T	ENST00000315184.5	+	6	935	c.882C>T	c.(880-882)atC>atT	p.I294I	FAM71F1_ENST00000485070.1_Silent_p.I193I	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	294								p.I294I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAGACAGCATCCCTTGCACCT	0.512																																						uc003vno.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(880-882)ATC>ATT		testes development-related NYD-SP18							129.0	115.0	120.0					7																	128369984		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128369984C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.882C>T	7.37:g.128369984C>T						FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.I193I|FAM71F1_uc003vnp.1_Silent_p.I292I	p.I294I	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			6	935	+			294					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.882C>T	CCDS5804.1																																																																																				PASS	0.512	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		22	44	22	44	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478326	128478326	+	Silent	SNP	C	C	A	rs375071103		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128478326C>A	ENST00000325888.8	+	7	1314	c.1053C>A	c.(1051-1053)acC>acA	p.T351T	FLNC_ENST00000346177.6_Silent_p.T351T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	351					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T351T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTAGGTGACCGTGCTCTTTG	0.627																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1051-1053)ACC>ACA		gamma filamin isoform a							139.0	147.0	145.0					7																	128478326		2112	4219	6331	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478326C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1053C>A	7.37:g.128478326C>A						FLNC_uc003voa.3_Silent_p.T351T	p.T351T	NM_001458	NP_001449	Q14315	FLNC_HUMAN			7	1262	+			351			Filamin 1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1053C>A	CCDS43644.1																																																																																				PASS	0.627	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	89	5	89	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478391	128478391	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128478391G>A	ENST00000325888.8	+	7	1379	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	FLNC_ENST00000346177.6_Missense_Mutation_p.G373E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	373					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G373E(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ATGGCCCTGGGAGATGCCAAC	0.572																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1117-1119)GGA>GAA		gamma filamin isoform a							125.0	134.0	131.0					7																	128478391		2123	4226	6349	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478391G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1118G>A	7.37:g.128478391G>A	ENSP00000327145:p.Gly373Glu					FLNC_uc003voa.3_Missense_Mutation_p.G373E	p.G373E	NM_001458	NP_001449	Q14315	FLNC_HUMAN			7	1327	+			373			Filamin 2.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1118G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295952	0.95574	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.88102	0.2820	10	0.87932	D	0	.	18.3997	0.90511	0.0:0.0:1.0:0.0	.	373;373	Q14315-2;Q14315	.;FLNC_HUMAN	E	373	ENSP00000327145:G373E;ENSP00000344002:G373E	ENSP00000327145:G373E	G	+	2	0	FLNC	128265627	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	9.869000	0.99810	2.578000	0.87016	0.650000	0.86243	GGA		PASS	0.572	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			16	56	16	56	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128484142	128484142	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128484142C>T	ENST00000325888.8	+	20	3275	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	FLNC_ENST00000346177.6_Missense_Mutation_p.S1005L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1005					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.S1005L(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGATGACTTCGCCCTCTCGC	0.662																																						uc003vnz.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3013-3015)TCG>TTG		gamma filamin isoform a							40.0	46.0	44.0					7																	128484142		2112	4230	6342	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484142C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3014C>T	7.37:g.128484142C>T	ENSP00000327145:p.Ser1005Leu					FLNC_uc003voa.3_Missense_Mutation_p.S1005L	p.S1005L	NM_001458	NP_001449	Q14315	FLNC_HUMAN			20	3223	+			1005			Filamin 8.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3014C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649364	0.87958	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.92595	-3.07;-3.0	5.05	5.05	0.67936	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.96466	0.8847	M	0.89095	3.005	0.49687	D	0.999815	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.946	D	0.97007	0.9733	10	0.66056	D	0.02	.	15.0728	0.72053	0.0:0.8474:0.1526:0.0	.	1005;1005	Q14315-2;Q14315	.;FLNC_HUMAN	L	1005	ENSP00000327145:S1005L;ENSP00000344002:S1005L	ENSP00000327145:S1005L	S	+	2	0	FLNC	128271378	0.980000	0.34600	1.000000	0.80357	0.944000	0.59088	4.121000	0.57904	2.346000	0.79739	0.484000	0.47621	TCG		PASS	0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			11	14	11	14	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128490444	128490444	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128490444G>A	ENST00000325888.8	+	32	5566	c.5305G>A	c.(5305-5307)Gag>Aag	p.E1769K	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.E1736K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1769					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.E1769K(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGGCCACAGAGGAGCCAGT	0.582																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5305-5307)GAG>AAG		gamma filamin isoform a							101.0	114.0	110.0					7																	128490444		2038	4193	6231	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490444G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5305G>A	7.37:g.128490444G>A	ENSP00000327145:p.Glu1769Lys					FLNC_uc003voa.3_Missense_Mutation_p.E1736K	p.E1769K	NM_001458	NP_001449	Q14315	FLNC_HUMAN			32	5514	+			1769			Filamin 16.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5305G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854918	0.71719	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91521	-1.92;-2.86	5.53	5.53	0.82687	.	0.173223	0.49305	D	0.000141	D	0.83613	0.5292	N	0.08118	0	0.50632	D	0.999882	B;B	0.20988	0.05;0.0	B;B	0.26693	0.072;0.014	T	0.78804	-0.2060	10	0.45353	T	0.12	.	19.0476	0.93028	0.0:0.0:1.0:0.0	.	1736;1769	Q14315-2;Q14315	.;FLNC_HUMAN	K	1769;1736	ENSP00000327145:E1769K;ENSP00000344002:E1736K	ENSP00000327145:E1769K	E	+	1	0	FLNC	128277680	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.819000	0.62664	2.584000	0.87258	0.655000	0.94253	GAG		PASS	0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			28	45	28	45	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128497374	128497374	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128497374C>T	ENST00000325888.8	+	46	8025	c.7764C>T	c.(7762-7764)ttC>ttT	p.F2588F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.F2555F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2588	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.F2588F(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGCCCCTTCAAGGCCAAGG	0.637																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7762-7764)TTC>TTT		gamma filamin isoform a							28.0	28.0	28.0					7																	128497374		2106	4237	6343	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128497374C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7764C>T	7.37:g.128497374C>T						FLNC_uc003voa.3_Silent_p.F2555F	p.F2588F	NM_001458	NP_001449	Q14315	FLNC_HUMAN			46	7973	+			2588			Interaction with INPPL1.|Filamin 23.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.7764C>T	CCDS43644.1																																																																																				PASS	0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			8	23	8	23	---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128802733	128802733	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:128802733C>T	ENST00000289407.4	+	4	457	c.348C>T	c.(346-348)ttC>ttT	p.F116F	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	116					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.F116F(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TCCTGGGCTTCGTCTTCTCAG	0.577																																						uc003vop.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(346-348)TTC>TTT		tetraspanin 33							138.0	130.0	133.0					7																	128802733		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128802733C>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.348C>T	7.37:g.128802733C>T							p.F116F	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			4	577	+			116			Helical; (Potential).			Silent	SNP	ENST00000289407.4	37	c.348C>T	CCDS5810.1																																																																																				PASS	0.577	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		48	60	48	60	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129096369	129096369	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:129096369C>T	ENST00000249344.2	+	9	964	c.924C>T	c.(922-924)atC>atT	p.I308I	STRIP2_ENST00000435494.2_Silent_p.I308I	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	308					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.I308I(1)									AAGACAGTATCCAGGTGGTGA	0.582																																						uc011koy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(922-924)ATC>ATT		hypothetical protein LOC57464 isoform a							98.0	91.0	93.0					7																	129096369		2203	4300	6503	SO:0001819	synonymous_variant	57464							g.chr7:129096369C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.924C>T	7.37:g.129096369C>T						FAM40B_uc003vow.2_Silent_p.I308I|FAM40B_uc011koz.1_5'Flank	p.I308I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			9	964	+			308					Q8WUZ4	Silent	SNP	ENST00000249344.2	37	c.924C>T	CCDS34752.1																																																																																				PASS	0.582	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		26	44	26	44	---	---	---	---
TMEM209	84928	broad.mit.edu	37	7	129813502	129813502	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:129813502G>T	ENST00000397622.2	-	13	1649	c.1527C>A	c.(1525-1527)atC>atA	p.I509I	TMEM209_ENST00000473456.1_Silent_p.I467I|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Silent_p.I508I|TMEM209_ENST00000336804.8_Silent_p.I466I	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	509						integral component of membrane (GO:0016021)		p.I508I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GACGCTGGTAGATGAGCTCAT	0.358																																						uc003vpn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1525-1527)ATC>ATA		transmembrane protein 209							129.0	124.0	126.0					7																	129813502		1865	4114	5979	SO:0001819	synonymous_variant	84928					integral to membrane		g.chr7:129813502G>T		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1527C>A	7.37:g.129813502G>T						TMEM209_uc010lmc.1_Silent_p.I467I	p.I509I	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			13	1650	-	Melanoma(18;0.0435)		509					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Silent	SNP	ENST00000397622.2	37	c.1527C>A	CCDS47712.1																																																																																				PASS	0.358	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842		23	58	23	58	---	---	---	---
CPA1	1357	broad.mit.edu	37	7	130021505	130021505	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:130021505C>T	ENST00000011292.3	+	3	332	c.182C>T	c.(181-183)tCc>tTc	p.S61F	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	61					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S61F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CACCCTGGCTCCCCCATCGAC	0.667																																						uc003vpx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(181-183)TCC>TTC		carboxypeptidase A1 precursor							43.0	36.0	39.0					7																	130021505		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021505C>T		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.182C>T	7.37:g.130021505C>T	ENSP00000011292:p.Ser61Phe					CPA1_uc011kpf.1_Intron|CPA1_uc003vpw.2_Missense_Mutation_p.S61F	p.S61F	NM_001868	NP_001859	P15085	CBPA1_HUMAN			3	254	+	Melanoma(18;0.0435)		61					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.182C>T	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798981	0.31777	.	.	ENSG00000091704	ENST00000011292	T	0.14766	2.48	5.4	2.53	0.30540	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.882832	0.10307	N	0.690432	T	0.10551	0.0258	L	0.36672	1.1	0.09310	N	0.999991	B	0.09022	0.002	B	0.15870	0.014	T	0.32693	-0.9897	10	0.44086	T	0.13	.	3.9625	0.09417	0.2841:0.4804:0.0:0.2355	.	61	P15085	CBPA1_HUMAN	F	61	ENSP00000011292:S61F	ENSP00000011292:S61F	S	+	2	0	CPA1	129808741	0.000000	0.05858	0.406000	0.26421	0.978000	0.69477	-1.003000	0.03682	0.631000	0.30412	0.561000	0.74099	TCC		PASS	0.667	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		9	22	9	22	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132193132	132193132	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:132193132G>A	ENST00000359827.3	-	2	1283	c.321C>T	c.(319-321)ccC>ccT	p.P107P	PLXNA4_ENST00000423507.2_Silent_p.P107P|PLXNA4_ENST00000321063.4_Silent_p.P107P|PLXNA4_ENST00000378539.5_Silent_p.P107P			Q9HCM2	PLXA4_HUMAN	plexin A4	107	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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.P107P(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGTGGTCAGGGGCTCATTGC	0.567																																						uc003vra.3																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(319-321)CCC>CCT		plexin A4 isoform 1							56.0	55.0	55.0					7																	132193132		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132193132G>A	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.321C>T	7.37:g.132193132G>A						PLXNA4_uc003vrc.2_Silent_p.P107P|PLXNA4_uc003vrb.2_Silent_p.P107P	p.P107P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	550	-			107			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.321C>T	CCDS43646.1																																																																																				PASS	0.567	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		15	32	15	32	---	---	---	---
AKR1B15	441282	broad.mit.edu	37	7	134260593	134260593	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:134260593C>T	ENST00000457545.2	+	8	917	c.657C>T	c.(655-657)ctC>ctT	p.L219L	AKR1B15_ENST00000423958.1_Silent_p.L191L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	219							oxidoreductase activity (GO:0016491)	p.L191L(1)|p.L237L(1)|p.L219L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ACCCATACCTCACGCAGGAGA	0.532																																						uc011kpr.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(655-657)CTC>CTT		aldo-keto reductase family 1, member B15							148.0	115.0	126.0					7																	134260593		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134260593C>T		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.657C>T	7.37:g.134260593C>T						AKR1B15_uc011kps.1_Silent_p.L191L	p.L219L	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN			8	956	+			219					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.657C>T	CCDS47715.2																																																																																				PASS	0.532	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			10	51	10	51	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136587929	136587929	+	Intron	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:136587929T>C	ENST00000445907.2	+	2	482				hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Intron|CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Intron|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|MIR490_ENST00000384865.1_RNA|hsa-mir-490_ENST00000608269.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Intron|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Intron	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	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)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCTTGCTGGTTTGGAAAGTT	0.468																																						hsa-mir-490|MI0003125																			0					0															188.0	164.0	172.0					7																	136587929		1568	3582	5150	SO:0001627	intron_variant	574443							g.chr7:136587929T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+33764T>C	7.37:g.136587929T>C						CHRM2_uc003vtf.1_Intron|CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron										+								Q4VBK6|Q9P1X9	RNA	SNP	ENST00000445907.2	37	c.16T>C	CCDS5843.1																																																																																				PASS	0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			24	56	24	56	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137148311	137148311	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:137148311C>T	ENST00000288490.5	-	28	2683	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DGKI_ENST00000424189.2_Missense_Mutation_p.D908N|DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.D877N	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	895					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.D895N(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						AGCCCACTGTCACTCAGCATG	0.502																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2683-2685)GAC>AAC		diacylglycerol kinase, iota							100.0	85.0	90.0					7																	137148311		2203	4300	6503	SO:0001583	missense	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.chr7:137148311C>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.2683G>A	7.37:g.137148311C>T	ENSP00000288490:p.Asp895Asn					DGKI_uc003vtu.2_Intron	p.D895N	NM_004717	NP_004708	O75912	DGKI_HUMAN			28	2684	-			895					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2683G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737060	0.69304	.	.	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.33865	1.39;1.57	5.91	5.91	0.95273	.	0.161034	0.56097	D	0.000028	T	0.25568	0.0622	N	0.08118	0	0.58432	D	0.999991	B	0.20368	0.044	B	0.17722	0.019	T	0.06427	-1.0827	10	0.51188	T	0.08	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	895	O75912	DGKI_HUMAN	N	898;895;877	ENSP00000288490:D895N;ENSP00000399131:D877N	ENSP00000288490:D895N	D	-	1	0	DGKI	136798851	0.999000	0.42202	0.995000	0.50966	0.944000	0.59088	5.114000	0.64648	2.813000	0.96785	0.655000	0.94253	GAC		PASS	0.502	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		19	33	19	33	---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137773434	137773434	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:137773434G>A	ENST00000242375.3	+	2	223	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	AKR1D1_ENST00000411726.2_Missense_Mutation_p.E61K|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E61K|AKR1D1_ENST00000468877.2_Intron|RN7SKP223_ENST00000410582.1_RNA	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	61					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)	p.E61K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CTACCAAAATGAACACGAAGT	0.498																																						uc003vtz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(181-183)GAA>AAA		aldo-keto reductase family 1, member D1							107.0	89.0	95.0					7																	137773434		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137773434G>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.181G>A	7.37:g.137773434G>A	ENSP00000242375:p.Glu61Lys					AKR1D1_uc011kqb.1_Missense_Mutation_p.E61K|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.E61K|AKR1D1_uc011kqf.1_Missense_Mutation_p.E61K	p.E61K	NM_005989	NP_005980	P51857	AK1D1_HUMAN			2	250	+			61					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.181G>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664072	0.67700	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.73047	-0.71;-0.71;-0.71	5.4	5.4	0.78164	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	D	0.89894	0.6847	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92930	0.6363	10	0.87932	D	0	.	16.7102	0.85383	0.0:0.0:1.0:0.0	.	61;61;61	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	K	61	ENSP00000389197:E61K;ENSP00000402374:E61K;ENSP00000242375:E61K	ENSP00000242375:E61K	E	+	1	0	AKR1D1	137423974	1.000000	0.71417	0.463000	0.27130	0.002000	0.02628	8.472000	0.90407	2.794000	0.96219	0.650000	0.86243	GAA		PASS	0.498	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		6	22	6	22	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138552764	138552764	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:138552764C>T	ENST00000422774.1	-	15	4934	c.4886G>A	c.(4885-4887)aGg>aAg	p.R1629K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1629K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1579K			Q9HCM3	K1549_HUMAN	KIAA1549	1629						integral component of membrane (GO:0016021)		p.R1579K(1)|p.R1629K(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGGGCCTCCTGTAGGTGCC	0.622			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 - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(4885-4887)AGG>AAG		hypothetical protein LOC57670 isoform 1							58.0	67.0	64.0					7																	138552764		2071	4187	6258	SO:0001583	missense	57670					integral to membrane		g.chr7:138552764C>T		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.4886G>A	7.37:g.138552764C>T	ENSP00000416040:p.Arg1629Lys					KIAA1549_uc011kqi.1_Missense_Mutation_p.R413K|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1579K|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1629K|KIAA1549_uc011kqk.1_Missense_Mutation_p.R413K	p.R1629K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			15	4935	-			1629					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.4886G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	0.603	-0.828225	0.02734	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.20881	2.04;2.04;2.05	4.53	-0.506	0.11989	.	0.142348	0.64402	N	0.000006	T	0.10723	0.0262	N	0.21373	0.66	0.27373	N	0.955642	B;B;B;B	0.09022	0.002;0.0;0.001;0.0	B;B;B;B	0.10450	0.005;0.001;0.003;0.001	T	0.34329	-0.9833	10	0.15499	T	0.54	.	8.3278	0.32167	0.0:0.3398:0.0:0.6602	.	1629;413;1629;413	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	K	1629;1579;1629	ENSP00000406661:R1629K;ENSP00000242365:R1579K;ENSP00000416040:R1629K	ENSP00000242365:R1579K	R	-	2	0	KIAA1549	138203304	1.000000	0.71417	0.039000	0.18376	0.326000	0.28443	3.419000	0.52728	-0.173000	0.10761	-0.302000	0.09304	AGG		PASS	0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	17	6	17	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138554436	138554436	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:138554436G>A	ENST00000422774.1	-	14	4671	c.4623C>T	c.(4621-4623)cgC>cgT	p.R1541R	KIAA1549_ENST00000440172.1_Silent_p.R1541R|KIAA1549_ENST00000242365.4_Silent_p.R1491R			Q9HCM3	K1549_HUMAN	KIAA1549	1541						integral component of membrane (GO:0016021)		p.R1541R(1)|p.R1491R(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTGCCCGCGGCGCTTGGCGC	0.617			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.(4621-4623)CGC>CGT		hypothetical protein LOC57670 isoform 1							36.0	46.0	43.0					7																	138554436		2038	4195	6233	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138554436G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4623C>T	7.37:g.138554436G>A						KIAA1549_uc011kqi.1_Silent_p.R325R|KIAA1549_uc003vuk.3_Silent_p.R1491R|KIAA1549_uc011kqj.1_Silent_p.R1541R|KIAA1549_uc011kqk.1_Silent_p.R325R	p.R1541R	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			14	4672	-			1541					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.4623C>T	CCDS56513.1																																																																																				PASS	0.617	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	10	6	10	---	---	---	---
UBN2	254048	broad.mit.edu	37	7	138946238	138946238	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:138946238C>T	ENST00000473989.3	+	6	1146	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	UBN2_ENST00000288561.8_Silent_p.P299P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	382						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P299P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGACCTTCCCATTTTTGTTA	0.473																																						uc011kqr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1144-1146)CCC>CCT		ubinuclein 2							97.0	93.0	94.0					7																	138946238		1911	4135	6046	SO:0001819	synonymous_variant	254048							g.chr7:138946238C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1146C>T	7.37:g.138946238C>T						UBN2_uc003vuv.2_Silent_p.P105P	p.P382P	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			6	1146	+			382					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.1146C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	9.374	1.071156	0.20147	.	.	ENSG00000157741	ENST00000483726	T	0.18657	2.2	6.08	3.32	0.38043	.	0.281251	0.40469	N	0.001082	T	0.21841	0.0526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04090	-1.0978	6	.	.	.	-10.8111	4.8856	0.13701	0.2472:0.5469:0.0:0.2059	.	.	.	.	L	151	ENSP00000417846:P151L	.	P	+	2	0	UBN2	138596778	0.987000	0.35691	1.000000	0.80357	0.985000	0.73830	0.229000	0.17833	0.460000	0.27045	-0.122000	0.15005	CCA		PASS	0.473	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		24	47	24	47	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478589	141478589	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:141478589T>C	ENST00000247881.2	+	1	348	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	101					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L101L(1)		endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GTTTGTGACCTTGCTCAATAT	0.443																																						uc003vwq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)TTG>CTG		taste receptor T2R4							214.0	188.0	197.0					7																	141478589		2203	4300	6503	SO:0001819	synonymous_variant	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478589T>C	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.301T>C	7.37:g.141478589T>C							p.L101L	NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	301	+	Melanoma(164;0.0171)		101			Helical; Name=3; (Potential).		Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	c.301T>C	CCDS5868.1																																																																																				PASS	0.443	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			27	46	27	46	---	---	---	---
PRSS58	136541	broad.mit.edu	37	7	141952383	141952383	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:141952383T>C	ENST00000552471.1	-	4	804	c.485A>G	c.(484-486)aAg>aGg	p.K162R	PRSS58_ENST00000547058.2_Missense_Mutation_p.K162R			Q8IYP2	PRS58_HUMAN	protease, serine, 58	162	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.K162R(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ACACTGAGGCTTGGAGATTAC	0.423																																						uc003vxb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)AAG>AGG		trypsin X3 precursor							157.0	144.0	149.0					7																	141952383		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952383T>C		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.485A>G	7.37:g.141952383T>C	ENSP00000446916:p.Lys162Arg					TRYX3_uc003vxc.3_Missense_Mutation_p.K162R	p.K162R	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			4	805	-	Melanoma(164;0.0272)		162			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.485A>G	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112851	0.20795	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88046	-2.33;-2.33	4.4	2.02	0.26589	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.68504	0.3008	N	0.03294	-0.36	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.56294	-0.8003	9	0.27785	T	0.31	.	5.5992	0.17345	0.0:0.2321:0.0:0.7679	.	162	Q8IYP2	PRS58_HUMAN	R	162	ENSP00000447588:K162R;ENSP00000446916:K162R	ENSP00000307206:K162R	K	-	2	0	PRSS58	141598861	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.116000	0.15561	0.451000	0.26802	0.460000	0.39030	AAG		PASS	0.423	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		29	57	29	57	---	---	---	---
TRBC2	28638	broad.mit.edu	37	7	142500194	142500194	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:142500194G>A	ENST00000466254.1	+	0	520							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											CAGGTCAAGAGAAAGGATTCC	0.517																																						uc003wbe.3																			0													Homo sapiens mRNA for T cell receptor V beta14-D-J, partial cds.							57.0	58.0	58.0					7																	142500194		1892	4115	6007			0							g.chr7:142500194G>A	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.142500194G>A						uc003wbf.3_RNA|uc003wbh.3_Missense_Mutation_p.R220K|uc003wbi.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA								5		+									RNA	SNP	ENST00000466254.1	37	c.573G>A																																																																																					PASS	0.517	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		8	7	8	7	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142638489	142638489	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:142638489C>T	ENST00000355265.2	-	19	2523	c.2049G>A	c.(2047-2049)agG>agA	p.R683R		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	683					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R683R(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCTGGGCTTCCTACACATCA	0.607																																						uc003wcb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2047-2049)AGG>AGA		Kell blood group, metallo-endopeptidase							89.0	92.0	91.0					7																	142638489		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142638489C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2049G>A	7.37:g.142638489C>T							p.R683R	NM_000420	NP_000411	P23276	KELL_HUMAN			19	2259	-	Melanoma(164;0.059)		683			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.2049G>A	CCDS34766.1																																																																																				PASS	0.607	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		13	45	13	45	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723949	142723949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:142723949G>A	ENST00000350513.2	-	1	333	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q91*(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAAAGATACTGTCTGCATCCC	0.478																																						uc003wcc.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(271-273)CAG>TAG		olfactory receptor, family 9, subfamily A,							98.0	89.0	92.0					7																	142723949		2203	4300	6503	SO:0001587	stop_gained	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723949G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.271C>T	7.37:g.142723949G>A	ENSP00000316518:p.Gln91*						p.Q91*	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	271	-	Melanoma(164;0.059)		91			Extracellular (Potential).		B9EH51|Q6IF71|Q8NGD9	Nonsense_Mutation	SNP	ENST00000350513.2	37	c.271C>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823594	0.32237	.	.	ENSG00000179468	ENST00000350513	.	.	.	4.62	1.66	0.24008	.	3.712730	0.01969	U	0.043920	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.5174	3.5435	0.07820	0.0905:0.3157:0.4317:0.1621	.	.	.	.	X	91	.	ENSP00000316518:Q91X	Q	-	1	0	OR9A2	142434071	0.000000	0.05858	0.074000	0.20217	0.180000	0.23129	0.007000	0.13174	0.224000	0.20940	0.561000	0.74099	CAG		PASS	0.478	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			19	35	19	35	---	---	---	---
TMEM139	135932	broad.mit.edu	37	7	142983529	142983529	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:142983529C>T	ENST00000359333.3	+	3	771	c.258C>T	c.(256-258)gcC>gcT	p.A86A	TMEM139_ENST00000410004.1_Silent_p.A86A|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409102.1_Silent_p.A86A|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Silent_p.A86A|TMEM139_ENST00000409541.1_Silent_p.A86A|CASP2_ENST00000310447.5_5'Flank|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	86						integral component of membrane (GO:0016021)		p.A86A(1)		endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACAATGAAGCCTTTGAAGTGC	0.512																																						uc010lov.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)GCC>GCT		transmembrane protein 139 precursor							89.0	91.0	90.0					7																	142983529		2203	4300	6503	SO:0001819	synonymous_variant	135932					integral to membrane		g.chr7:142983529C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.258C>T	7.37:g.142983529C>T						CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Silent_p.A86A|TMEM139_uc003wcl.2_Silent_p.A86A|TMEM139_uc003wcm.2_Silent_p.A86A|TMEM139_uc003wcn.2_RNA	p.A86A	NM_153345	NP_699176	Q8IV31	TM139_HUMAN			4	397	+	Melanoma(164;0.059)		86			Cytoplasmic (Potential).		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Silent	SNP	ENST00000359333.3	37	c.258C>T	CCDS5878.1																																																																																				PASS	0.512	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		29	64	29	64	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143043326	143043326	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143043326G>A	ENST00000343257.2	+	18	2353	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	756					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E756K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGCAGCCGGAAGCACCAGA	0.597																																						uc003wcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2266-2268)GAA>AAA		chloride channel 1, skeletal muscle							53.0	52.0	52.0					7																	143043326		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143043326G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2266G>A	7.37:g.143043326G>A	ENSP00000339867:p.Glu756Lys					CLCN1_uc011ktc.1_Missense_Mutation_p.E368K	p.E756K	NM_000083	NP_000074	P35523	CLCN1_HUMAN			18	2353	+	Melanoma(164;0.205)		756			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2266G>A	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178106	0.38511	.	.	ENSG00000188037	ENST00000343257	D	0.84800	-1.9	4.34	4.34	0.51931	.	1.370490	0.04603	N	0.398930	D	0.84383	0.5460	L	0.60455	1.87	0.29583	N	0.849047	P	0.50617	0.937	B	0.42851	0.4	T	0.71471	-0.4583	10	0.10377	T	0.69	.	14.6339	0.68676	0.0:0.0:1.0:0.0	.	756	P35523	CLCN1_HUMAN	K	756	ENSP00000339867:E756K	ENSP00000339867:E756K	E	+	1	0	CLCN1	142753448	1.000000	0.71417	0.381000	0.26106	0.604000	0.37047	5.588000	0.67517	1.979000	0.57680	0.561000	0.74099	GAA		PASS	0.597	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		6	11	6	11	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143048731	143048731	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143048731C>T	ENST00000343257.2	+	23	2727	c.2640C>T	c.(2638-2640)ctC>ctT	p.L880L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	880					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L880L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGGTGCAGCTCCGCCCTCCCC	0.542																																						uc003wcr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(2638-2640)CTC>CTT		chloride channel 1, skeletal muscle							38.0	36.0	37.0					7																	143048731		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143048731C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2640C>T	7.37:g.143048731C>T						CLCN1_uc011ktc.1_Silent_p.L492L	p.L880L	NM_000083	NP_000074	P35523	CLCN1_HUMAN			23	2727	+	Melanoma(164;0.205)		880			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.2640C>T	CCDS5881.1																																																																																				PASS	0.542	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		13	17	13	17	---	---	---	---
FAM131B	9715	broad.mit.edu	37	7	143054093	143054093	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143054093C>T	ENST00000409408.1	-	6	2257	c.549G>A	c.(547-549)atG>atA	p.M183I	FAM131B_ENST00000443739.2_Missense_Mutation_p.M211I|FAM131B_ENST00000409222.3_Missense_Mutation_p.M183I|FAM131B_ENST00000409346.1_Missense_Mutation_p.M183I|FAM131B_ENST00000409578.1_Missense_Mutation_p.M199I			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	183								p.M211I(1)|p.M183I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCCATCCATCCATGGGTGCTT	0.562																																						uc003wct.2																			2	Substitution - Missense(2)		lung(2)		0						c.(547-549)ATG>ATA		hypothetical protein LOC9715 isoform b							46.0	40.0	42.0					7																	143054093		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143054093C>T	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.549G>A	7.37:g.143054093C>T	ENSP00000387017:p.Met183Ile					FAM131B_uc010loz.2_Missense_Mutation_p.M151I|FAM131B_uc003wcu.3_Missense_Mutation_p.M183I|FAM131B_uc010lpa.2_Missense_Mutation_p.M211I	p.M183I	NM_014690	NP_055505	Q86XD5	F131B_HUMAN			6	2255	-	Melanoma(164;0.205)		183					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.549G>A	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859460	0.32884	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.46	4.52	0.55395	.	0.404011	0.30320	N	0.009892	T	0.09730	0.0239	N	0.08118	0	0.35916	D	0.831488	B;B	0.17465	0.002;0.022	B;B	0.12837	0.002;0.008	T	0.20773	-1.0265	10	0.23891	T	0.37	-13.6169	8.3656	0.32385	0.2988:0.5771:0.1241:0.0	.	199;183	Q86XD5-2;Q86XD5	.;F131B_HUMAN	I	211;199;183;187;183;183	ENSP00000410603:M211I;ENSP00000386568:M199I;ENSP00000386984:M183I;ENSP00000387017:M183I;ENSP00000387147:M183I	ENSP00000387147:M183I	M	-	3	0	FAM131B	142764215	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.964000	0.29306	2.561000	0.86390	0.655000	0.94253	ATG		PASS	0.562	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		12	21	12	21	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143140607	143140607	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143140607T>C	ENST00000332690.1	+	1	62	c.62T>C	c.(61-63)gTt>gCt	p.V21A	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	21					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.V21A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATCATCTTGGTTACCATTTTA	0.502																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(61-63)GTT>GCT		taste receptor, type 2, member 60							244.0	223.0	230.0					7																	143140607		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140607T>C	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.62T>C	7.37:g.143140607T>C	ENSP00000327724:p.Val21Ala					uc003wda.2_Intron	p.V21A	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	62	+	Melanoma(164;0.172)		21			Helical; Name=1; (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.62T>C	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.721276	0.30503	.	.	ENSG00000185899	ENST00000332690	T	0.00768	5.72	5.68	-7.23	0.01480	.	2.463780	0.01685	N	0.026371	T	0.00815	0.0027	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45056	-0.9287	10	0.32370	T	0.25	.	8.4567	0.32903	0.1054:0.256:0.0:0.6386	.	21	P59551	T2R60_HUMAN	A	21	ENSP00000327724:V21A	ENSP00000327724:V21A	V	+	2	0	TAS2R60	142850729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.771000	0.04699	-1.211000	0.02624	-1.239000	0.01543	GTT		PASS	0.502	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			32	94	32	94	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141125	143141125	+	Missense_Mutation	SNP	C	C	T	rs117057228	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143141125C>T	ENST00000332690.1	+	1	580	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	194					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.L194F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GAAATTCTATCTCTTCCCTCT	0.418													C|||	3	0.000599042	0.0	0.0	5008	,	,		21505	0.003		0.0	False		,,,				2504	0.0					uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(580-582)CTC>TTC		taste receptor, type 2, member 60							165.0	160.0	162.0					7																	143141125		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141125C>T	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.580C>T	7.37:g.143141125C>T	ENSP00000327724:p.Leu194Phe					uc003wda.2_Intron	p.L194F	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	580	+	Melanoma(164;0.172)		194			Helical; Name=5; (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.580C>T	CCDS5885.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.238	-1.015667	0.02078	.	.	ENSG00000185899	ENST00000332690	T	0.38077	1.16	5.62	-3.28	0.05033	.	1.060030	0.07424	N	0.894431	T	0.09247	0.0228	N	0.01048	-1.04	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.31110	-0.9955	10	0.02654	T	1	.	6.35	0.21370	0.0:0.3691:0.1331:0.4977	.	194	P59551	T2R60_HUMAN	F	194	ENSP00000327724:L194F	ENSP00000327724:L194F	L	+	1	0	TAS2R60	142851247	0.003000	0.15002	0.000000	0.03702	0.070000	0.16714	0.102000	0.15272	-0.829000	0.04268	-1.057000	0.02308	CTC		PASS	0.418	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			26	65	26	65	---	---	---	---
FAM115A	9747	broad.mit.edu	37	7	143573429	143573429	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143573429G>A	ENST00000479870.1	-	2	481	c.273C>T	c.(271-273)ccC>ccT	p.P91P	FAM115A_ENST00000355951.2_Silent_p.P91P|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	91								p.P91P(1)		NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTACACCAATGGGAGCCCCAG	0.587																																						uc003wdo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)CCC>CCT		hypothetical protein LOC9747							50.0	50.0	50.0					7																	143573429		2203	4300	6503	SO:0001819	synonymous_variant	9747							g.chr7:143573429G>A	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.273C>T	7.37:g.143573429G>A						FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.P91P	p.P91P	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	406	-	Melanoma(164;0.0903)		91					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	ENST00000479870.1	37	c.273C>T	CCDS5886.1																																																																																				PASS	0.587	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		15	38	15	38	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657094	143657094	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143657094G>A	ENST00000392899.1	+	1	68	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	11					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E11K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGGGTGAGTGAATTTATTCT	0.438																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(31-33)GAA>AAA		olfactory receptor, family 2, subfamily F,							147.0	146.0	146.0					7																	143657094		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657094G>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.31G>A	7.37:g.143657094G>A	ENSP00000376633:p.Glu11Lys						p.E11K	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	75	+	Melanoma(164;0.0903)		11			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.31G>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185807	0.21870	.	.	ENSG00000213215	ENST00000392899	T	0.01119	5.31	5.65	3.82	0.43975	.	0.565861	0.16116	N	0.228867	T	0.02571	0.0078	M	0.88105	2.93	0.09310	N	1	B	0.33777	0.425	B	0.28638	0.092	T	0.24870	-1.0148	10	0.31617	T	0.26	-5.3884	10.8139	0.46564	0.1562:0.0:0.8438:0.0	.	11	Q13607	OR2F1_HUMAN	K	11	ENSP00000376633:E11K	ENSP00000376633:E11K	E	+	1	0	OR2F1	143288027	.	.	0.018000	0.16275	0.147000	0.21601	.	.	1.626000	0.50381	0.655000	0.94253	GAA		PASS	0.438	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			16	68	16	68	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657642	143657642	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143657642C>T	ENST00000392899.1	+	1	616	c.579C>T	c.(577-579)tcC>tcT	p.S193S	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	193					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S193S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGACACCTCCTCCAATGAGG	0.478																																						uc003wds.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(577-579)TCC>TCT		olfactory receptor, family 2, subfamily F,							184.0	164.0	171.0					7																	143657642		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657642C>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.579C>T	7.37:g.143657642C>T							p.S193S	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	623	+	Melanoma(164;0.0903)		193			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.579C>T	CCDS5887.1																																																																																				PASS	0.478	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			18	32	18	32	---	---	---	---
OR2A25	392138	broad.mit.edu	37	7	143771942	143771942	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143771942C>T	ENST00000408898.2	+	1	668	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F210F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGGAGCCTTCTTTTCCACTG	0.473																																						uc011ktx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)TTC>TTT		olfactory receptor, family 2, subfamily A,							124.0	130.0	128.0					7																	143771942		2056	4222	6278	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143771942C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.630C>T	7.37:g.143771942C>T							p.F210F	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	630	+	Melanoma(164;0.0783)		210			Helical; Name=5; (Potential).		B2RNC9	Silent	SNP	ENST00000408898.2	37	c.630C>T	CCDS43669.1																																																																																				PASS	0.473	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1			23	60	23	60	---	---	---	---
OR2A2	442361	broad.mit.edu	37	7	143807315	143807315	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143807315C>T	ENST00000408979.2	+	1	709	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L214L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTCCTTGATTCTGGTCTCCTA	0.537																																						uc011ktz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(640-642)CTG>TTG		olfactory receptor, family 2, subfamily A,							122.0	127.0	125.0					7																	143807315		1994	4184	6178	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807315C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.640C>T	7.37:g.143807315C>T							p.L214L	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	640	+	Melanoma(164;0.0783)		214			Helical; Name=5; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.640C>T	CCDS43671.1																																																																																				PASS	0.537	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			45	92	45	92	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143826661C>T	ENST00000408899.2	+	1	511	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F152F(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532																																						uc011kua.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(454-456)TTC>TTT		olfactory receptor, family 2, subfamily A,							195.0	214.0	207.0					7																	143826661		2153	4261	6414	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826661C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.456C>T	7.37:g.143826661C>T							p.F152F	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	456	+	Melanoma(164;0.0783)		152			Helical; Name=4; (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.456C>T	CCDS43672.1																																																																																				PASS	0.532	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			48	108	48	108	---	---	---	---
OR2A7	401427	broad.mit.edu	37	7	143956673	143956673	+	Missense_Mutation	SNP	G	G	A	rs549494166		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:143956673G>A	ENST00000493325.1	-	1	142	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P17S(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGGCCAACGGGAAATCCCAGT	0.493													g|||	1	0.000199681	0.0	0.0	5008	,	,		31950	0.0		0.001	False		,,,				2504	0.0					uc011kuc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(49-51)CCC>TCC		olfactory receptor, family 2, subfamily A,							102.0	132.0	122.0					7																	143956673		2202	4298	6500	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956673G>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.49C>T	7.37:g.143956673G>A	ENSP00000420502:p.Pro17Ser					OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	p.P17S	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			1	49	-	Melanoma(164;0.14)		17			Extracellular (Potential).		B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.49C>T	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.548112	0.00140	.	.	ENSG00000243896	ENST00000493325	T	0.00421	7.46	3.21	3.21	0.36854	.	.	.	.	.	T	0.00109	0.0003	N	0.00823	-1.155	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29150	-1.0021	9	0.02654	T	1	.	6.4366	0.21827	0.133:0.0:0.867:0.0	.	17	Q96R45	OR2A7_HUMAN	S	17	ENSP00000420502:P17S	ENSP00000420502:P17S	P	-	1	0	OR2A7	143587606	0.000000	0.05858	0.733000	0.30861	0.056000	0.15407	0.027000	0.13621	2.082000	0.62665	0.404000	0.27445	CCC		PASS	0.493	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			33	275	33	275	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144101747	144101747	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:144101747G>A	ENST00000467773.1	-	2	111	c.112C>T	c.(112-114)Cct>Tct	p.P38S	NOBOX_ENST00000483238.1_Missense_Mutation_p.P38S|NOBOX_ENST00000223140.5_5'Flank	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	38					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P38S(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACACACAGGAAATTCAGGT	0.517																																						uc011kue.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(112-114)CCT>TCT		NOBOX oogenesis homeobox							108.0	117.0	114.0					7																	144101747		1970	4154	6124	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144101747G>A			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.112C>T	7.37:g.144101747G>A	ENSP00000419457:p.Pro38Ser						p.P38S	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			2	112	-	Melanoma(164;0.14)		38					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.112C>T		.	.	.	.	.	.	.	.	.	.	G	7.032	0.560789	0.13498	.	.	ENSG00000106410	ENST00000483238;ENST00000467773	D;D	0.94613	-3.46;-3.47	2.28	-0.806	0.10875	.	.	.	.	.	D	0.84156	0.5410	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.22753	0.041	T	0.72191	-0.4365	9	0.22706	T	0.39	.	5.5518	0.17095	0.0:0.4667:0.3319:0.2014	.	38	O60393	NOBOX_HUMAN	S	38	ENSP00000419565:P38S;ENSP00000419457:P38S	ENSP00000419457:P38S	P	-	1	0	NOBOX	143732680	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.000000	0.01466	-0.217000	0.10033	-0.273000	0.10243	CCT		PASS	0.517	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		22	45	22	45	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144245695	144245695	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:144245695C>T	ENST00000360057.3	-	8	604	c.502G>A	c.(502-504)Gga>Aga	p.G168R	TPK1_ENST00000538212.2_Splice_Site_p.G114R|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Splice_Site_p.G119R|TPK1_ENST00000549981.1_Splice_Site_p.G51R	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	168					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.G168R(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CTGTGCTTTCCCTGAAGGAGA	0.493																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(502-504)GGA>AGA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						156.0	128.0	137.0					7																	144245695		2203	4300	6503	SO:0001630	splice_region_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245695C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.502-1G>A	7.37:g.144245695C>T						TPK1_uc003weo.2_Missense_Mutation_p.G114R|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G119R|TPK1_uc003wes.2_RNA	p.G168R	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	605	-			168					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.502G>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627623	0.66901	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.95	5.06	0.68205	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98715	1.0706	10	0.72032	D	0.01	-18.8798	11.5666	0.50809	0.0:0.9157:0.0:0.0843	.	119;168;114	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	R	168;114;119;51	ENSP00000353165:G168R;ENSP00000438813:G114R;ENSP00000367339:G119R;ENSP00000448698:G51R	ENSP00000353165:G168R	G	-	1	0	TPK1	143876628	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	3.747000	0.55134	2.817000	0.96982	0.563000	0.77884	GGA		PASS	0.493	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	Missense_Mutation	16	30	16	30	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146536856	146536856	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:146536856G>A	ENST00000361727.3	+	3	778	c.262G>A	c.(262-264)Gac>Aac	p.D88N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	88	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D88N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTTCAGGTTGACTTTGGCAA	0.483										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(262-264)GAC>AAC		cell recognition molecule Caspr2 precursor							91.0	79.0	83.0					7																	146536856		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536856G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.262G>A	7.37:g.146536856G>A	ENSP00000354778:p.Asp88Asn	HNSCC(39;0.1)					p.D88N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	778	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	88			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.262G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915089	0.73098	.	.	ENSG00000174469	ENST00000361727	D	0.99089	-5.41	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000023	D	0.99245	0.9737	M	0.88842	2.985	0.80722	D	1	D	0.63046	0.992	P	0.57009	0.811	D	0.99548	1.0965	10	0.72032	D	0.01	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	88	Q9UHC6	CNTP2_HUMAN	N	88	ENSP00000354778:D88N	ENSP00000354778:D88N	D	+	1	0	CNTNAP2	146167789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.781000	0.75068	2.760000	0.94817	0.650000	0.86243	GAC		PASS	0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			20	28	20	28	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146741005	146741005	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:146741005C>T	ENST00000361727.3	+	4	925	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	137	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P137S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGCATTTCCCGGAAACAT	0.408										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(409-411)CCC>TCC		cell recognition molecule Caspr2 precursor							102.0	93.0	96.0					7																	146741005		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146741005C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.409C>T	7.37:g.146741005C>T	ENSP00000354778:p.Pro137Ser	HNSCC(39;0.1)					p.P137S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		4	925	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	137			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.409C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	0.089	-1.170271	0.01660	.	.	ENSG00000174469	ENST00000361727	D	0.98192	-4.78	5.37	5.37	0.77165	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.103982	0.38720	N	0.001584	D	0.93507	0.7928	N	0.13043	0.29	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	D	0.89999	0.4113	10	0.07030	T	0.85	.	12.746	0.57281	0.1643:0.8357:0.0:0.0	.	137	Q9UHC6	CNTP2_HUMAN	S	137	ENSP00000354778:P137S	ENSP00000354778:P137S	P	+	1	0	CNTNAP2	146371938	0.981000	0.34729	0.974000	0.42286	0.062000	0.15995	0.568000	0.23623	2.512000	0.84698	0.462000	0.41574	CCC		PASS	0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	39	15	39	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147092776	147092776	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:147092776A>C	ENST00000361727.3	+	10	2090	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	525	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q525P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCTCATTCAAGTGGACGAT	0.433										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1573-1575)CAA>CCA		cell recognition molecule Caspr2 precursor							192.0	178.0	183.0					7																	147092776		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092776A>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1574A>C	7.37:g.147092776A>C	ENSP00000354778:p.Gln525Pro	HNSCC(39;0.1)					p.Q525P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2090	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	525			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1574A>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.349756	0.41599	.	.	ENSG00000174469	ENST00000361727	T	0.76839	-1.05	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.219758	0.29760	N	0.011266	T	0.75708	0.3886	L	0.34521	1.04	0.80722	D	1	P	0.35700	0.516	P	0.46629	0.522	T	0.73297	-0.4027	10	0.30078	T	0.28	.	14.0553	0.64764	1.0:0.0:0.0:0.0	.	525	Q9UHC6	CNTP2_HUMAN	P	525	ENSP00000354778:Q525P	ENSP00000354778:Q525P	Q	+	2	0	CNTNAP2	146723709	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	4.546000	0.60705	2.004000	0.58718	0.482000	0.46254	CAA		PASS	0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			31	89	31	89	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148511204	148511204	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:148511204G>A	ENST00000460911.1	-	15	1771	c.1683C>T	c.(1681-1683)cgC>cgT	p.R561R	EZH2_ENST00000541220.1_Silent_p.R510R|EZH2_ENST00000476773.1_Silent_p.R510R|EZH2_ENST00000320356.2_Silent_p.R566R|EZH2_ENST00000478654.1_Silent_p.R510R|EZH2_ENST00000350995.2_Silent_p.R522R|EZH2_ENST00000483967.1_Silent_p.R552R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	561	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R566R(1)|p.R522R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTGCTTTGCAGCGGCATCCCG	0.542			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1681-1683)CGC>CGT		enhancer of zeste 2 isoform a							180.0	166.0	171.0					7																	148511204		2203	4300	6503	SO:0001819	synonymous_variant	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148511204G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1683C>T	7.37:g.148511204G>A						EZH2_uc011kug.1_Silent_p.R510R|EZH2_uc003wfb.1_Silent_p.R566R|EZH2_uc003wfc.1_Silent_p.R522R|EZH2_uc011kuh.1_Silent_p.R552R	p.R561R	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		15	1849	-	Melanoma(164;0.15)		561			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.1683C>T	CCDS56516.1																																																																																				PASS	0.542	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		29	80	29	80	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876626	148876626	+	Silent	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:148876626A>T	ENST00000475153.1	+	6	1929	c.1662A>T	c.(1660-1662)ctA>ctT	p.L554L	ZNF398_ENST00000491174.1_Silent_p.L383L|ZNF398_ENST00000335901.4_Silent_p.L383L|ZNF398_ENST00000483892.1_Silent_p.L383L|ZNF398_ENST00000426851.2_Silent_p.L383L|ZNF398_ENST00000540950.1_Silent_p.L559L|ZNF398_ENST00000420008.2_Silent_p.L383L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	554					positive regulation of transcription, DNA-templated (GO:0045893)|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.L554L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGCACCACCTAATGAAACACC	0.612																																						uc003wfl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1660-1662)CTA>CTT		zinc finger 398 isoform a							95.0	87.0	89.0					7																	148876626		2203	4300	6503	SO:0001819	synonymous_variant	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876626A>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1662A>T	7.37:g.148876626A>T						ZNF398_uc011kul.1_Silent_p.L383L|ZNF398_uc011kum.1_Silent_p.L559L	p.L554L	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1937	+	Melanoma(164;0.15)		554			C2H2-type 8.		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.1662A>T	CCDS5894.1																																																																																				PASS	0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			20	51	20	51	---	---	---	---
ZNF767P	79970	broad.mit.edu	37	7	149318402	149318402	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149318402C>T	ENST00000463567.1	-	0	434					NR_027788.1		Q75MW2	ZN767_HUMAN										p.R91R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TCCAGAAGTTCCTGTTGTGCA	0.692																																						uc003wfy.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1								Homo sapiens cDNA FLJ12700 fis, clone NT2RP1000721.							56.0	61.0	59.0					7																	149318402		2198	4290	6488			79970							g.chr7:149318402C>T																													7.37:g.149318402C>T						ZNF767_uc003wfx.2_RNA|ZNF767_uc011kuq.1_RNA		NR_027789				OV - Ovarian serous cystadenocarcinoma(82;0.00434)		2		-	Melanoma(164;0.165)|Ovarian(565;0.177)							D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	ENST00000463567.1	37	c.498G>A																																																																																					PASS	0.692	ZNF767-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352753.2			25	62	25	62	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149489695	149489695	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149489695C>T	ENST00000378016.2	+	0	5751							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGTCACCCTGGGCCAAGT	0.672																																						uc010lpk.2																			0					0						c.(5749-5751)CCC>CCT		SCO-spondin precursor							33.0	41.0	38.0					7																	149489695		2052	4196	6248			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149489695C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489695C>T							p.P1917P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		39	5751	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1917			TSP type-1 3.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.5751C>T																																																																																					PASS	0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	20	7	20	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149500625	149500625	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149500625C>T	ENST00000378016.2	+	0	8026							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTGAGTGCCCCTGCCTGGT	0.662																																						uc010lpk.2																			0					0						c.(8026-8028)CCC>TCC		SCO-spondin precursor							21.0	25.0	24.0					7																	149500625		2057	4184	6241			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500625C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500625C>T							p.P2676S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		55	8026	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2676					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8026C>T																																																																																					PASS	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	22	8	22	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149508026	149508026	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149508026G>A	ENST00000378016.2	+	0	9420							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCACCCAGGACTGCCCCT	0.622																																						uc010lpk.2																			0					0						c.(9418-9420)CAG>CAA		SCO-spondin precursor							50.0	56.0	54.0					7																	149508026		1976	4144	6120			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508026G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508026G>A							p.Q3140Q	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		67	9420	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3140					Q76B61	Silent	SNP	ENST00000378016.2	37	c.9420G>A																																																																																					PASS	0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	14	5	14	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149512315	149512315	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149512315C>T	ENST00000378016.2	+	0	10635							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCCGCTCCTGCCAGGACC	0.682																																						uc010lpk.2																			0					0						c.(10633-10635)TCC>TCT		SCO-spondin precursor							31.0	36.0	35.0					7																	149512315		1981	4149	6130			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149512315C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512315C>T							p.S3545S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		76	10635	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3545					Q76B61	Silent	SNP	ENST00000378016.2	37	c.10635C>T																																																																																					PASS	0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				15	9	15	9	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149558300	149558300	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:149558300C>T	ENST00000223210.4	+	7	2296	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P684L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTGGACATCCCCTTCCGGAAG	0.587																																						uc010lpn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2050-2052)CCC>CTC		zinc finger protein 862							23.0	26.0	25.0					7																	149558300		2059	4187	6246	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149558300C>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2051C>T	7.37:g.149558300C>T	ENSP00000223210:p.Pro684Leu					ZNF862_uc003wgm.2_RNA	p.P684L	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	2243	+			684					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.2051C>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348629	0.61183	.	.	ENSG00000106479	ENST00000223210	T	0.22743	1.94	5.28	5.28	0.74379	Ribonuclease H-like (1);	0.000000	0.53938	D	0.000055	T	0.32912	0.0845	M	0.61703	1.905	0.41418	D	0.987781	D	0.54047	0.964	P	0.50314	0.637	T	0.05209	-1.0899	10	0.52906	T	0.07	-16.9612	14.4487	0.67370	0.0:1.0:0.0:0.0	.	684	O60290	ZN862_HUMAN	L	684	ENSP00000223210:P684L	ENSP00000223210:P684L	P	+	2	0	ZNF862	149189233	0.984000	0.35163	0.998000	0.56505	0.997000	0.91878	1.986000	0.40677	2.479000	0.83701	0.655000	0.94253	CCC		PASS	0.587	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		7	10	7	10	---	---	---	---
GIMAP2	26157	broad.mit.edu	37	7	150390377	150390377	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:150390377C>T	ENST00000223293.5	+	3	1097	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	335						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)	p.P335S(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGCAAGACTCCTAGGTTATA	0.323																																						uc003who.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1003-1005)CCT>TCT		GTPase, IMAP family member 2																																				SO:0001583	missense	26157					integral to membrane	GTP binding	g.chr7:150390377C>T	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.1003C>T	7.37:g.150390377C>T	ENSP00000223293:p.Pro335Ser					GIMAP1_uc003whp.2_Intron	p.P335S	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1091	+			335					Q96L25	Missense_Mutation	SNP	ENST00000223293.5	37	c.1003C>T	CCDS5905.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457669	0.12342	.	.	ENSG00000106560	ENST00000223293	T	0.08807	3.05	2.73	0.691	0.18045	.	.	.	.	.	T	0.05777	0.0151	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.37009	-0.9724	9	0.87932	D	0	.	4.5999	0.12348	0.0:0.6367:0.0:0.3633	.	335	Q9UG22	GIMA2_HUMAN	S	335	ENSP00000223293:P335S	ENSP00000223293:P335S	P	+	1	0	GIMAP2	150021310	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.507000	0.22675	0.178000	0.19917	-0.345000	0.07892	CCT		PASS	0.323	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1	NM_015660		5	13	5	13	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417417	150417417	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:150417417G>A	ENST00000307194.5	+	3	465	c.325G>A	c.(325-327)Gcc>Acc	p.A109T		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	109	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A109T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCTCTCGGCCCCCGGACC	0.637																																						uc003whq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(325-327)GCC>ACC		GTPase, IMAP family member 1							46.0	43.0	44.0					7																	150417417		2203	4300	6503	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417417G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.325G>A	7.37:g.150417417G>A	ENSP00000302833:p.Ala109Thr					GIMAP1_uc003whp.2_Missense_Mutation_p.A117T	p.A109T	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	412	+			109			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.325G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015722	0.35606	.	.	ENSG00000213203	ENST00000307194	T	0.61274	0.12	4.72	0.222	0.15288	AIG1 (1);	0.574728	0.14983	U	0.287144	T	0.54175	0.1842	M	0.83603	2.65	0.09310	N	1	P	0.39443	0.674	B	0.40009	0.316	T	0.51818	-0.8657	10	0.52906	T	0.07	.	2.1718	0.03851	0.1018:0.1625:0.3638:0.372	.	109	Q8WWP7	GIMA1_HUMAN	T	109	ENSP00000302833:A109T	ENSP00000302833:A109T	A	+	1	0	GIMAP1	150048350	0.000000	0.05858	0.034000	0.17996	0.036000	0.12997	-0.324000	0.07986	0.189000	0.20188	0.655000	0.94253	GCC		PASS	0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		4	21	4	21	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150771338	150771338	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:150771338C>T	ENST00000485713.1	+	17	3788	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F	SLC4A2_ENST00000310317.5_Silent_p.F834F|SLC4A2_ENST00000461735.1_Silent_p.F902F|SLC4A2_ENST00000413384.2_Silent_p.F916F|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Silent_p.F907F|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	916	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.F916F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATCGCCTTCTTCCTGCGCA	0.647																																						uc003wit.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2746-2748)TTC>TTT		solute carrier family 4, anion exchanger, member							39.0	45.0	43.0					7																	150771338		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771338C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2748C>T	7.37:g.150771338C>T						SLC4A2_uc011kve.1_Silent_p.F907F|SLC4A2_uc003wiu.3_Silent_p.F902F|SLC4A2_uc003wiv.3_Silent_p.F110F	p.F916F	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	3004	+			916			Helical; (Potential).|Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2748C>T	CCDS5917.1																																																																																				PASS	0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		15	16	15	16	---	---	---	---
WDR86	349136	broad.mit.edu	37	7	151093117	151093117	+	Silent	SNP	C	C	T	rs369396478		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:151093117C>T	ENST00000334493.6	-	3	901	c.471G>A	c.(469-471)gcG>gcA	p.A157A	WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000477459.1_Silent_p.A29A|WDR86_ENST00000469830.2_Silent_p.A157A	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	157								p.A157A(2)|p.A29A(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCTCCTCCGCGCAGGGAG	0.711																																						uc003wkb.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(469-471)GCG>GCA		WD repeat domain 86		C		1,4385		0,1,2192	10.0	12.0	11.0		471	-0.1	0.0	7		11	0,8532		0,0,4266	no	coding-synonymous	WDR86	NM_198285.2		0,1,6458	TT,TC,CC		0.0,0.0228,0.0077		157/377	151093117	1,12917	2193	4266	6459	SO:0001819	synonymous_variant	349136							g.chr7:151093117C>T	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.471G>A	7.37:g.151093117C>T						WDR86_uc003wka.2_Silent_p.A115A|WDR86_uc011kvk.1_Silent_p.A157A|WDR86_uc003wkc.2_Silent_p.A29A	p.A157A	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	920	-			157			WD 4.		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	c.471G>A	CCDS5925.2																																																																																				PASS	0.711	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285		3	7	3	7	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151860306	151860307	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:151860306_151860307GG>AA	ENST00000262189.6	-	43	10573_10574	c.10355_10356CC>TT	c.(10354-10356)cCC>cTT	p.P3452L	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3452L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3452	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P3452P(4)|p.P3452L(4)									AACTGTAGAAGGGAATCTGGGA	0.48																																						uc003wla.2										N							medulloblastoma		8	Substitution - Missense(4)|Substitution - coding silent(4)		lung(8)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10354-10356)CCC>CCT|c.(10354-10356)CCC>CTC		myeloid/lymphoid or mixed-lineage leukemia 3																																				SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151860306G>A|g.chr7:151860307G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10355_10356delinsAA	7.37:g.151860306_151860307delinsAA	ENSP00000262189:p.Pro3452Leu					MLL3_uc003wkz.2_Silent_p.P2513P|MLL3_uc003wky.2_Silent_p.P961P|MLL3_uc003wkz.2_Missense_Mutation_p.P2513L|MLL3_uc003wky.2_Missense_Mutation_p.P961L	p.P3452P|p.P3452L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	10575|10574	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3452			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent|Missense_Mutation	SNP	ENST00000262189.6	37	c.10356C>T|c.10355C>T	CCDS5931.1																																																																																				PASS	0.480	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	104|103	30	103	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154876017	154876017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:154876017G>A	ENST00000287907.2	+	2	1470	c.894G>A	c.(892-894)tgG>tgA	p.W298*	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	298					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.W298C(2)|p.W298*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGCTCTGCTGGATCCCCTTCT	0.607																																						uc003wlu.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(2)|large_intestine(1)	3						c.(892-894)TGG>TGA		5-hydroxytryptamine receptor 5A							239.0	193.0	209.0					7																	154876017		2203	4300	6503	SO:0001587	stop_gained	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154876017G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.894G>A	7.37:g.154876017G>A	ENSP00000287907:p.Trp298*						p.W298*	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	958	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	298			Helical; Name=6; (By similarity).		Q2M2D2	Nonsense_Mutation	SNP	ENST00000287907.2	37	c.894G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	42	9.293136	0.99127	.	.	ENSG00000157219	ENST00000287907	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	.	.	.	X	298	.	ENSP00000287907:W298X	W	+	3	0	HTR5A	154506950	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	TGG		PASS	0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		31	59	31	59	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155534782	155534782	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:155534782G>C	ENST00000401878.3	+	13	2517	c.2319G>C	c.(2317-2319)gaG>gaC	p.E773D		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	773							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E773D(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTAAAGAAGAGGCAAAAACAG	0.493																																						uc010lqk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2317-2319)GAG>GAC		RNA binding motif protein 33							44.0	44.0	44.0					7																	155534782		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155534782G>C	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2319G>C	7.37:g.155534782G>C	ENSP00000384160:p.Glu773Asp					RBM33_uc011kvv.1_Missense_Mutation_p.E582D	p.E773D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2687	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	773					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2319G>C	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.711|5.711	0.315732|0.315732	0.10789|0.10789	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878|ENST00000392761	T|.	0.46063|.	0.88|.	5.88|5.88	-3.04|-3.04	0.05412|0.05412	.|.	0.379579|.	0.25616|.	N|.	0.029453|.	T|T	0.36608|0.36608	0.0973|0.0973	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	B;B|.	0.23990|.	0.005;0.095|.	B;B|.	0.25506|.	0.01;0.061|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.38643|.	T|.	0.18|.	.|.	6.3981|6.3981	0.21622|0.21622	0.4211:0.3307:0.2483:0.0|0.4211:0.3307:0.2483:0.0	.|.	490;773|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	D|T	773|545	ENSP00000384160:E773D|.	ENSP00000384160:E773D|.	E|R	+|+	3|2	2|0	RBM33|RBM33	155227543|155227543	1.000000|1.000000	0.71417|0.71417	0.261000|0.261000	0.24466|0.24466	0.090000|0.090000	0.18270|0.18270	0.937000|0.937000	0.28951|0.28951	-0.375000|-0.375000	0.07955|0.07955	-1.239000|-1.239000	0.01543|0.01543	GAG|AGG		PASS	0.493	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		8	23	8	23	---	---	---	---
SHH	6469	broad.mit.edu	37	7	155604732	155604732	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:155604732C>T	ENST00000297261.2	-	1	235	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	29					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.G29R(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCCGAACCCCCTGCCCGGT	0.612																																						uc003wmk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(1)	4						c.(85-87)GGG>AGG		sonic hedgehog preproprotein							92.0	102.0	99.0					7																	155604732		2203	4300	6503	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155604732C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.85G>A	7.37:g.155604732C>T	ENSP00000297261:p.Gly29Arg					SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank	p.G29R	NM_000193	NP_000184	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	236	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	29					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.85G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554023	0.65425	.	.	ENSG00000164690	ENST00000297261	D	0.99292	-5.7	4.6	4.6	0.57074	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	10	0.51188	T	0.08	.	17.427	0.87529	0.0:1.0:0.0:0.0	.	29	Q15465	SHH_HUMAN	R	29	ENSP00000297261:G29R	ENSP00000297261:G29R	G	-	1	0	SHH	155297493	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.757000	0.62213	2.076000	0.62316	0.462000	0.41574	GGG		PASS	0.612	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		37	52	37	52	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157931004	157931004	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:157931004G>A	ENST00000389418.4	-	7	1123	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R334C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R395C|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R355C|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R372C	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	372					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R372C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTCTCCACGGAGGGTGGCC	0.677																																						uc003wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1114-1116)CGT>TGT		protein tyrosine phosphatase, receptor type, N							34.0	37.0	36.0					7																	157931004		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157931004G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1114C>T	7.37:g.157931004G>A	ENSP00000374069:p.Arg372Cys					PTPRN2_uc003wnp.2_Missense_Mutation_p.R355C|PTPRN2_uc003wnq.2_Missense_Mutation_p.R372C|PTPRN2_uc003wnr.2_Missense_Mutation_p.R334C|PTPRN2_uc011kwa.1_Missense_Mutation_p.R395C	p.R372C	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	7	1235	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	372			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1114C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325167	0.24080	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03242	4.0;4.0;4.01;4.01;4.0	4.24	2.17	0.27698	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	D;P;D;P;P	0.54772	0.968;0.946;0.968;0.946;0.946	B;B;B;B;B	0.40101	0.219;0.17;0.319;0.17;0.17	T	0.48151	-0.9060	9	0.62326	D	0.03	.	5.4815	0.16727	0.3194:0.0:0.6806:0.0	.	395;334;372;355;372	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	C	334;372;355;372;395	ENSP00000387114:R334C;ENSP00000374064:R372C;ENSP00000374067:R355C;ENSP00000374069:R372C;ENSP00000385464:R395C	ENSP00000374064:R372C	R	-	1	0	PTPRN2	157623765	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	0.102000	0.15272	0.783000	0.33636	0.655000	0.94253	CGT		PASS	0.677	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			8	15	8	15	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157959909	157959909	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:157959909G>A	ENST00000389418.4	-	6	633	c.624C>T	c.(622-624)tcC>tcT	p.S208S	PTPRN2_ENST00000409483.1_Silent_p.S170S|PTPRN2_ENST00000404321.2_Silent_p.S231S|PTPRN2_ENST00000389416.4_Silent_p.S191S|PTPRN2_ENST00000389413.3_Silent_p.S208S	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	208			S -> P (in dbSNP:rs1130495). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8878534, ECO:0000269|PubMed:9205841, ECO:0000269|Ref.4}.		negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P208P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTGGGTCCGGGACCCGGGAG	0.632																																						uc003wno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(622-624)TCC>TCT		protein tyrosine phosphatase, receptor type, N							45.0	47.0	46.0					7																	157959909		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157959909G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.624C>T	7.37:g.157959909G>A						PTPRN2_uc003wnp.2_Silent_p.S191S|PTPRN2_uc003wnq.2_Silent_p.S208S|PTPRN2_uc003wnr.2_Silent_p.S170S|PTPRN2_uc011kwa.1_Silent_p.S231S	p.S208S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	6	745	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	208			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.624C>T	CCDS5947.1																																																																																				PASS	0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			8	27	8	27	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158677292	158677292	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr7:158677292G>A	ENST00000407559.3	+	6	1075	c.917G>A	c.(916-918)aGa>aAa	p.R306K		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	306					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R306K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGCTCAAAAAGAGATGGGACC	0.423																																						uc003woe.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(916-918)AGA>AAA		WD repeat domain 60							77.0	81.0	79.0					7																	158677292		1963	4162	6125	SO:0001583	missense	55112							g.chr7:158677292G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.917G>A	7.37:g.158677292G>A	ENSP00000384290:p.Arg306Lys					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	p.R306K	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	6	1075	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	306					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.917G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320262	0.23994	.	.	ENSG00000126870	ENST00000407559	T	0.23147	1.92	4.31	2.44	0.29823	.	0.307262	0.25948	N	0.027268	T	0.12944	0.0314	N	0.19112	0.55	0.18873	N	0.999985	B	0.21452	0.056	B	0.12837	0.008	T	0.24835	-1.0149	10	0.17832	T	0.49	-19.4124	7.346	0.26664	0.2232:0.0:0.7768:0.0	.	306	Q8WVS4	WDR60_HUMAN	K	306	ENSP00000384290:R306K	ENSP00000384290:R306K	R	+	2	0	WDR60	158370053	1.000000	0.71417	0.755000	0.31263	0.022000	0.10575	2.012000	0.40932	0.926000	0.37118	0.609000	0.83330	AGA		PASS	0.423	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		11	28	11	28	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497235	1497235	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:1497235G>A	ENST00000421627.2	+	2	510	c.376G>A	c.(376-378)Ggc>Agc	p.G126S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	205					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.G170S(1)|p.G148S(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCACCGGGACGGCTTCCACAC	0.701																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(376-378)GGC>AGC		discs large-associated protein 2							8.0	10.0	9.0					8																	1497235		2174	4272	6446	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497235G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.376G>A	8.37:g.1497235G>A	ENSP00000400258:p.Gly126Ser					DLGAP2_uc003wpm.2_Missense_Mutation_p.G126S	p.G126S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	473	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	205					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.376G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644154	0.96704	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.24151	1.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.89904	3.07	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69544	-0.5117	10	0.87932	D	0	-19.2514	19.5381	0.95262	0.0:0.0:1.0:0.0	.	205;205	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	S	171;126	ENSP00000400258:G126S	ENSP00000348366:G171S	G	+	1	0	DLGAP2	1484642	1.000000	0.71417	0.951000	0.38953	0.868000	0.49771	9.330000	0.96422	2.611000	0.88343	0.655000	0.94253	GGC		PASS	0.701	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	1	4	1	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497405	1497405	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:1497405G>A	ENST00000421627.2	+	2	680	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	261					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.R226R(1)|p.R204R(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGACGGCCGGGCGGACGACC	0.667																																						uc003wpl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(544-546)CGG>CGA		discs large-associated protein 2							15.0	23.0	20.0					8																	1497405		2175	4284	6459	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497405G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.546G>A	8.37:g.1497405G>A						DLGAP2_uc003wpm.2_Silent_p.R182R	p.R182R	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	643	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	261					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.546G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.083559	0.01888	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.57	-1.57	0.08506	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27191	-1.0081	4	.	.	.	-15.3881	1.0476	0.01573	0.3293:0.2753:0.2588:0.1366	.	.	.	.	E	199	.	.	G	+	2	0	DLGAP2	1484812	0.869000	0.29996	0.001000	0.08648	0.020000	0.10135	0.576000	0.23744	-0.280000	0.09154	-0.150000	0.13652	GGG		PASS	0.667	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		5	7	5	7	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2808739	2808739	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:2808739C>T	ENST00000520002.1	-	67	10656	c.10101G>A	c.(10099-10101)ggG>ggA	p.G3367G	CSMD1_ENST00000602557.1_Silent_p.G3367G|CSMD1_ENST00000400186.3_Silent_p.G3190G|CSMD1_ENST00000537824.1_Silent_p.G3366G|CSMD1_ENST00000602723.1_Silent_p.G3190G|CSMD1_ENST00000542608.1_Silent_p.G3189G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3367						integral component of membrane (GO:0016021)		p.G3095G(1)|p.G3366G(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)		GTTGTCTTTTCCCTAAATATT	0.473																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(10099-10101)GGG>GGA		CUB and Sushi multiple domains 1 precursor							68.0	65.0	66.0					8																	2808739		1882	4097	5979	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2808739C>T			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.10101G>A	8.37:g.2808739C>T						CSMD1_uc011kwj.1_Silent_p.G2681G|CSMD1_uc010lrg.2_Silent_p.G1258G	p.G3367G	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)	66	10491	-		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)	3367			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.10101G>A		.	.	.	.	.	.	.	.	.	.	C	5.115	0.206905	0.09704	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.35	-1.42	0.08913	.	.	.	.	.	T	0.52821	0.1758	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41787	-0.9489	4	.	.	.	.	7.4269	0.27105	0.0:0.333:0.1482:0.5188	.	.	.	.	K	2769	.	.	E	-	1	0	CSMD1	2796146	0.322000	0.24634	0.489000	0.27452	0.464000	0.32679	-0.241000	0.08940	-0.716000	0.04962	0.643000	0.83706	GAA		PASS	0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	21	8	21	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2876151	2876151	+	Missense_Mutation	SNP	G	G	A	rs267601891		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:2876151G>A	ENST00000520002.1	-	53	8435	c.7880C>T	c.(7879-7881)tCc>tTc	p.S2627F	CSMD1_ENST00000602557.1_Missense_Mutation_p.S2627F|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2626F|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2627	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2355F(1)|p.S2626F(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)		TGGGGGAAAGGAAAGGCTTCC	0.423																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(7879-7881)TCC>TTC		CUB and Sushi multiple domains 1 precursor							117.0	112.0	113.0					8																	2876151		1898	4121	6019	SO:0001583	missense	64478					integral to membrane		g.chr8:2876151G>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.7880C>T	8.37:g.2876151G>A	ENSP00000430733:p.Ser2627Phe					CSMD1_uc011kwj.1_Missense_Mutation_p.S1956F|CSMD1_uc010lrg.2_Intron	p.S2627F	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)	52	8270	-		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)	2627			Extracellular (Potential).|Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7880C>T		.	.	.	.	.	.	.	.	.	.	G	16.57	3.160778	0.57368	.	.	ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824	T;T	0.65732	-0.17;-0.17	5.0	5.0	0.66597	Complement control module (2);Sushi/SCR/CCP (3);	0.085016	0.49916	D	0.000128	T	0.71533	0.3351	L	0.48174	1.505	0.80722	D	1	D;P	0.57257	0.979;0.779	P;P	0.58331	0.837;0.793	T	0.74399	-0.3678	10	0.66056	D	0.02	.	18.6523	0.91435	0.0:0.0:1.0:0.0	.	2627;2627	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	F	2627;2488;2626	ENSP00000430733:S2627F;ENSP00000441462:S2626F	ENSP00000320445:S2488F	S	-	2	0	CSMD1	2863558	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	7.613000	0.82986	2.472000	0.83506	0.655000	0.94253	TCC		PASS	0.423	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		49	131	49	131	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2966239	2966239	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:2966239C>T	ENST00000520002.1	-	45	7198	c.6643G>A	c.(6643-6645)Gga>Aga	p.G2215R	CSMD1_ENST00000602557.1_Missense_Mutation_p.G2215R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2215R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2214R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2215R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2214R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2215	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G2214R(1)|p.G1943R(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)		CTGAAAACTCCCAGCTGGGGT	0.493																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6643-6645)GGA>AGA		CUB and Sushi multiple domains 1 precursor							72.0	71.0	71.0					8																	2966239		1904	4133	6037	SO:0001583	missense	64478					integral to membrane		g.chr8:2966239C>T			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.6643G>A	8.37:g.2966239C>T	ENSP00000430733:p.Gly2215Arg					CSMD1_uc011kwj.1_Missense_Mutation_p.G1607R|CSMD1_uc010lrg.2_Missense_Mutation_p.G283R	p.G2215R	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)	44	7033	-		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)	2215			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6643G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.482042|4.482042	0.84747|0.84747	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61	4.8|4.8	4.8|4.8	0.61643|0.61643	.|CUB (5);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.61776|0.61776	0.2374|0.2374	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.69745|0.69745	-0.5062|-0.5062	6|10	.|0.87932	.|D	.|0	.|.	18.2142|18.2142	0.89880|0.89880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2215;2215;2214	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	E|R	1694|2215;2215;2076;2214;2214	.|ENSP00000383047:G2215R;ENSP00000430733:G2215R;ENSP00000441462:G2214R;ENSP00000446243:G2214R	.|ENSP00000320445:G2076R	G|G	-|-	2|1	0|0	CSMD1|CSMD1	2953646|2953646	1.000000|1.000000	0.71417|0.71417	0.492000|0.492000	0.27490|0.27490	0.775000|0.775000	0.43874|0.43874	7.444000|7.444000	0.80532|0.80532	2.347000|2.347000	0.79759|0.79759	0.579000|0.579000	0.79373|0.79373	GGG|GGA		PASS	0.493	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		17	18	17	18	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3047579	3047579	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:3047579C>T	ENST00000520002.1	-	35	5811	c.5256G>A	c.(5254-5256)agG>agA	p.R1752R	CSMD1_ENST00000602557.1_Silent_p.R1752R|CSMD1_ENST00000539096.1_Silent_p.R1751R|CSMD1_ENST00000400186.3_Silent_p.R1752R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.R1751R|CSMD1_ENST00000602723.1_Silent_p.R1752R|CSMD1_ENST00000542608.1_Silent_p.R1751R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1752	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R1751R(1)|p.R1480R(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)		AACCAATTCTCCTTCCGTATC	0.562																																						uc011kwk.1																			2	Substitution - coding silent(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(5254-5256)AGG>AGA		CUB and Sushi multiple domains 1 precursor							73.0	80.0	78.0					8																	3047579		1993	4152	6145	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3047579C>T			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.5256G>A	8.37:g.3047579C>T						CSMD1_uc011kwj.1_Silent_p.R1144R|CSMD1_uc003wqe.2_Silent_p.R908R|CSMD1_uc010lrg.2_5'Flank	p.R1752R	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)	34	5646	-		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)	1752			Sushi 10.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.5256G>A		.	.	.	.	.	.	.	.	.	.	C	10.55	1.381902	0.24944	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.34	-1.02	0.10135	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	.	2.2907	0.04137	0.1169:0.4325:0.1141:0.3365	.	.	.	.	K	1232	.	.	E	-	1	0	CSMD1	3034986	0.890000	0.30428	0.579000	0.28588	0.962000	0.63368	0.032000	0.13732	-0.171000	0.10797	0.544000	0.68410	GAG		PASS	0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	8	5	8	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3063068	3063068	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:3063068C>T	ENST00000520002.1	-	32	5500	c.4945G>A	c.(4945-4947)Ggt>Agt	p.G1649S	CSMD1_ENST00000602557.1_Missense_Mutation_p.G1649S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1648S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1649S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1648S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1649S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1648S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1649	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G1377S(1)|p.G1648S(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)		CATATTTGACCAGCTGTGTAA	0.388																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(4945-4947)GGT>AGT		CUB and Sushi multiple domains 1 precursor							74.0	73.0	73.0					8																	3063068		1852	4094	5946	SO:0001583	missense	64478					integral to membrane		g.chr8:3063068C>T			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.4945G>A	8.37:g.3063068C>T	ENSP00000430733:p.Gly1649Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.G1041S|CSMD1_uc003wqe.2_Missense_Mutation_p.G805S	p.G1649S	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)	31	5335	-		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)	1649			Extracellular (Potential).|CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4945G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.79|19.79	3.892361|3.892361	0.72524|0.72524	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.60171|.	0.21;0.21;0.21;0.21;0.21|.	5.28|5.28	5.28|5.28	0.74379|0.74379	CUB (5);|.	0.138494|.	0.48767|.	D|.	0.000161|.	T|.	0.60117|.	0.2244|.	L|L	0.33137|0.33137	0.985|0.985	0.49915|0.49915	D|D	0.999839|0.999839	D;P;P|.	0.89917|.	1.0;0.923;0.904|.	D;P;P|.	0.91635|.	0.999;0.85;0.767|.	T|.	0.54118|.	-0.8341|.	10|.	0.54805|.	T|.	0.06|.	.|.	19.2736|19.2736	0.94021|0.94021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1649;1649;1649|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|X	1649;1649;1511;1648;1648;1648|1128	ENSP00000383047:G1649S;ENSP00000430733:G1649S;ENSP00000441462:G1648S;ENSP00000446243:G1648S;ENSP00000441675:G1648S|.	ENSP00000320445:G1511S|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3050475|3050475	0.983000|0.983000	0.35010|0.35010	0.979000|0.979000	0.43373|0.43373	0.523000|0.523000	0.34469|0.34469	3.691000|3.691000	0.54720|0.54720	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	GGT|TGG		PASS	0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	21	6	21	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3063085	3063085	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:3063085G>A	ENST00000520002.1	-	32	5483	c.4928C>T	c.(4927-4929)cCc>cTc	p.P1643L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P1643L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1642L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1643L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1642L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1643L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1642L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1643	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.P1642L(1)|p.P1371L(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)		GTAATTATGGGGGTAGTTTGG	0.408																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(4927-4929)CCC>CTC		CUB and Sushi multiple domains 1 precursor							73.0	71.0	71.0					8																	3063085		1859	4094	5953	SO:0001583	missense	64478					integral to membrane		g.chr8:3063085G>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.4928C>T	8.37:g.3063085G>A	ENSP00000430733:p.Pro1643Leu					CSMD1_uc011kwj.1_Missense_Mutation_p.P1035L|CSMD1_uc003wqe.2_Missense_Mutation_p.P799L	p.P1643L	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)	31	5318	-		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)	1643			Extracellular (Potential).|CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.4928C>T		.	.	.	.	.	.	.	.	.	.	G	25.0	4.592479	0.86953	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.28	5.28	0.74379	CUB (5);	0.071401	0.56097	D	0.000026	T	0.73814	0.3635	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.82959	-0.0198	10	0.87932	D	0	.	19.2736	0.94021	0.0:0.0:1.0:0.0	.	1643;1643;1643	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1643;1643;1505;1642;1642;1642	ENSP00000383047:P1643L;ENSP00000430733:P1643L;ENSP00000441462:P1642L;ENSP00000446243:P1642L;ENSP00000441675:P1642L	ENSP00000320445:P1505L	P	-	2	0	CSMD1	3050492	1.000000	0.71417	0.957000	0.39632	0.651000	0.38670	9.576000	0.98192	2.617000	0.88574	0.655000	0.94253	CCC		PASS	0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	14	10	14	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3267122	3267122	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:3267122C>T	ENST00000520002.1	-	14	2125	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CSMD1_ENST00000602557.1_Missense_Mutation_p.E524K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E523K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E524K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E523K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E524K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E523K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	524						integral component of membrane (GO:0016021)		p.E252K(1)|p.E523K(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)		CCTCCCTTTTCAATTTCTGAA	0.443																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(1570-1572)GAA>AAA		CUB and Sushi multiple domains 1 precursor							18.0	18.0	18.0					8																	3267122		1819	4074	5893	SO:0001583	missense	64478					integral to membrane		g.chr8:3267122C>T			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.1570G>A	8.37:g.3267122C>T	ENSP00000430733:p.Glu524Lys					CSMD1_uc011kwj.1_5'UTR	p.E524K	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)	13	1960	-		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)	524			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1570G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.047350	0.93740	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.27402	1.67;1.78;1.8;1.67;2.14	5.26	5.26	0.73747	.	0.240496	0.33092	N	0.005281	T	0.48857	0.1523	L	0.55834	1.745	0.50813	D	0.999893	D	0.59767	0.986	D	0.69654	0.965	T	0.28235	-1.0050	10	0.12766	T	0.61	.	18.8659	0.92292	0.0:1.0:0.0:0.0	.	524	E5RIG2	.	K	524;524;386;523;523;523	ENSP00000383047:E524K;ENSP00000430733:E524K;ENSP00000441462:E523K;ENSP00000446243:E523K;ENSP00000441675:E523K	ENSP00000320445:E386K	E	-	1	0	CSMD1	3254530	1.000000	0.71417	0.631000	0.29282	0.962000	0.63368	5.840000	0.69402	2.443000	0.82685	0.573000	0.79308	GAA		PASS	0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	12	5	12	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	4495068	4495068	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:4495068C>T	ENST00000520002.1	-	2	653	c.98G>A	c.(97-99)gGa>gAa	p.G33E	CSMD1_ENST00000602557.1_Missense_Mutation_p.G33E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G33E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G33E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G33E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G33E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G33E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	33	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G33E(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)		GACTAAGCCTCCACAGTTCTG	0.443																																						uc011kwk.1																			1	Substitution - Missense(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(97-99)GGA>GAA		CUB and Sushi multiple domains 1 precursor							60.0	59.0	59.0					8																	4495068		1877	4119	5996	SO:0001583	missense	64478					integral to membrane		g.chr8:4495068C>T			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.98G>A	8.37:g.4495068C>T	ENSP00000430733:p.Gly33Glu						p.G33E	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	488	-		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)	33			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.98G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.509928	0.85282	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.32	5.32	0.75619	.	.	.	.	.	T	0.70081	0.3183	M	0.93638	3.44	0.47511	D	0.99944	D	0.89917	1.0	D	0.97110	1.0	T	0.78425	-0.2209	9	0.66056	D	0.02	.	16.4949	0.84237	0.0:1.0:0.0:0.0	.	33	E5RIG2	.	E	33	ENSP00000383047:G33E;ENSP00000430733:G33E;ENSP00000441462:G33E;ENSP00000446243:G33E;ENSP00000441675:G33E	ENSP00000383047:G33E	G	-	2	0	CSMD1	4482476	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.030000	0.70903	2.508000	0.84585	0.585000	0.79938	GGA		PASS	0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		16	43	16	43	---	---	---	---
AGPAT5	55326	broad.mit.edu	37	8	6612607	6612607	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:6612607C>T	ENST00000285518.6	+	7	1093	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	261					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.H261Y(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AATTCATATTCACATTGATCG	0.299																																						uc003wqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)CAC>TAC		1-acylglycerol-3-phosphate O-acyltransferase 5							71.0	63.0	66.0					8																	6612607		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6612607C>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.781C>T	8.37:g.6612607C>T	ENSP00000285518:p.His261Tyr					AGPAT5_uc011kwm.1_Silent_p.F85F	p.H261Y	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	7	1093	+			261					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.781C>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305088	0.60305	.	.	ENSG00000155189	ENST00000285518	T	0.55052	0.54	5.81	5.81	0.92471	.	0.144793	0.64402	D	0.000007	T	0.48943	0.1528	L	0.56199	1.76	0.58432	D	0.999999	B	0.12013	0.005	B	0.13407	0.009	T	0.41538	-0.9503	10	0.14252	T	0.57	-14.3981	17.585	0.87979	0.0:1.0:0.0:0.0	.	261	Q9NUQ2	PLCE_HUMAN	Y	261	ENSP00000285518:H261Y	ENSP00000285518:H261Y	H	+	1	0	AGPAT5	6600015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.798000	0.47884	2.746000	0.94184	0.591000	0.81541	CAC		PASS	0.299	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		16	25	16	25	---	---	---	---
DEFB4A	1673	broad.mit.edu	37	8	7752264	7752264	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:7752264C>T	ENST00000302247.2	+	1	114	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_004942.2	NP_004933.1	O15263	DFB4A_HUMAN	defensin, beta 4A	10					chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.F10F(1)		lung(1)	1						TCTTCTCGTTCCTCTTCATAT	0.517																																					Ovarian(105;1718 2131 4132 11552)	uc003wsd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)TTC>TTT		defensin, beta 4 precursor							290.0	237.0	255.0					8																	7752264		2201	4298	6499	SO:0001819	synonymous_variant	1673				chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response	extracellular region		g.chr8:7752264C>T	AJ000152	CCDS5971.1	8p23.1	2014-01-30	2010-03-01	2010-03-01	ENSG00000171711	ENSG00000171711		"""Defensins, beta"", ""Endogenous ligands"""	2767	protein-coding gene	gene with protein product		602215	"""defensin, beta 2"", ""defensin, beta 4"""	DEFB102, DEFB2, DEFB4		9202117	Standard	NM_004942		Approved	SAP1, HBD-2, DEFB-2	uc003wsd.3	O15263	OTTHUMG00000129314	ENST00000302247.2:c.30C>T	8.37:g.7752264C>T							p.F10F	NM_004942	NP_004933	O15263	DFB4A_HUMAN			1	66	+			10					Q52LC0	Silent	SNP	ENST00000302247.2	37	c.30C>T	CCDS5971.1																																																																																				PASS	0.517	DEFB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251446.1	NM_004942		17	83	17	83	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10465665	10465665	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:10465665C>T	ENST00000382483.3	-	4	6166	c.5943G>A	c.(5941-5943)gaG>gaA	p.E1981E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2061	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1981E(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCACTTCAACCTCCAGGGCCT	0.587																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5941-5943)GAG>GAA		retinitis pigmentosa 1-like 1							162.0	179.0	174.0					8																	10465665		1983	4163	6146	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465665C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5943G>A	8.37:g.10465665C>T							p.E1981E	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6172	-			1981					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5943G>A	CCDS43708.1																																																																																				PASS	0.587	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			59	127	59	127	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466654	10466654	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:10466654C>T	ENST00000382483.3	-	4	5177	c.4954G>A	c.(4954-4956)Gag>Aag	p.E1652K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1732					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1652K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTCCCCCTCCGCCTCCTCG	0.662																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4954-4956)GAG>AAG		retinitis pigmentosa 1-like 1							35.0	40.0	38.0					8																	10466654		2013	4157	6170	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466654C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4954G>A	8.37:g.10466654C>T	ENSP00000371923:p.Glu1652Lys						p.E1652K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5183	-			1652					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4954G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.495	0.459549	0.12342	.	.	ENSG00000183638	ENST00000382483	T	0.04502	3.61	4.69	1.6	0.23607	.	4.170680	0.01081	U	0.004998	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.19946	0.027	T	0.40757	-0.9546	10	0.36615	T	0.2	0.0763	8.5571	0.33487	0.0:0.637:0.0:0.363	.	1652	A6NKC6	.	K	1652	ENSP00000371923:E1652K	ENSP00000371923:E1652K	E	-	1	0	RP1L1	10504064	0.009000	0.17119	0.000000	0.03702	0.033000	0.12548	0.762000	0.26503	0.127000	0.18452	0.491000	0.48974	GAG		PASS	0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			14	17	14	17	---	---	---	---
C8orf74	203076	broad.mit.edu	37	8	10557809	10557809	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:10557809A>C	ENST00000304519.5	+	4	742	c.713A>C	c.(712-714)cAg>cCg	p.Q238P	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	238								p.Q238P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAGCTGCTGCAGCGCCAGATC	0.607																																						uc003wtd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CAG>CCG		hypothetical protein LOC203076							79.0	88.0	85.0					8																	10557809		2018	4190	6208	SO:0001583	missense	203076							g.chr8:10557809A>C	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.713A>C	8.37:g.10557809A>C	ENSP00000307129:p.Gln238Pro					C8orf74_uc003wte.1_RNA	p.Q238P	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	742	+			238					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.713A>C	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577303	0.28092	.	.	ENSG00000171060	ENST00000304519	T	0.36157	1.27	5.01	3.85	0.44370	.	0.638363	0.14781	N	0.298816	T	0.43344	0.1243	M	0.65975	2.015	0.25560	N	0.987004	D	0.56968	0.978	P	0.49853	0.624	T	0.35025	-0.9805	10	0.72032	D	0.01	.	7.565	0.27874	0.9043:0.0:0.0957:0.0	.	238	Q6P047	CH074_HUMAN	P	238	ENSP00000307129:Q238P	ENSP00000307129:Q238P	Q	+	2	0	C8orf74	10595219	0.966000	0.33281	0.639000	0.29394	0.011000	0.07611	2.680000	0.46918	0.938000	0.37419	-0.375000	0.07067	CAG		PASS	0.607	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		10	36	10	36	---	---	---	---
FGF20	26281	broad.mit.edu	37	8	16850674	16850674	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:16850674G>A	ENST00000180166.5	-	3	691	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	181					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.S181S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GATGCCTCTTGGACCTGGCGC	0.428																																						uc003wxc.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(541-543)TCC>TCT		fibroblast growth factor 20							182.0	161.0	168.0					8																	16850674		2203	4300	6503	SO:0001819	synonymous_variant	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850674G>A	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.543C>T	8.37:g.16850674G>A						FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR	p.S181S	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	676	-			181					B2RPH5	Silent	SNP	ENST00000180166.5	37	c.543C>T	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870984	0.17322	.	.	ENSG00000078579	ENST00000519941	.	.	.	5.85	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4861	0.38931	0.3242:0.0:0.6758:0.0	.	.	.	.	X	83	.	.	Q	-	1	0	FGF20	16895045	0.996000	0.38824	1.000000	0.80357	0.944000	0.59088	0.344000	0.19962	0.185000	0.20105	0.655000	0.94253	CAA		PASS	0.428	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			20	63	20	63	---	---	---	---
PDGFRL	5157	broad.mit.edu	37	8	17486125	17486125	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:17486125C>T	ENST00000541323.1	+	5	1080	c.635C>T	c.(634-636)cCa>cTa	p.P212L	PDGFRL_ENST00000251630.6_Missense_Mutation_p.P212L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.P212L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	212					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)	p.P212L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGGGAATTCCCAGCCAAGGAG	0.537																																						uc003wxr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CCA>CTA		platelet-derived growth factor receptor-like							110.0	100.0	104.0					8																	17486125		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17486125C>T	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.635C>T	8.37:g.17486125C>T	ENSP00000444211:p.Pro212Leu						p.P212L	NM_006207	NP_006198	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	4	696	+			212					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.635C>T	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762691	0.89932	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.04862	3.54;3.54;3.54	5.33	5.33	0.75918	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01945	-1.1242	10	0.87932	D	0	-19.4694	19.406	0.94647	0.0:1.0:0.0:0.0	.	212	Q15198	PGFRL_HUMAN	L	212	ENSP00000251630:P212L;ENSP00000444211:P212L;ENSP00000381149:P212L	ENSP00000251630:P212L	P	+	2	0	PDGFRL	17530405	1.000000	0.71417	0.961000	0.40146	0.934000	0.57294	7.487000	0.81328	2.675000	0.91044	0.655000	0.94253	CCA		PASS	0.537	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		12	34	12	34	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17794743	17794743	+	Missense_Mutation	SNP	C	C	T	rs369208604		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:17794743C>T	ENST00000519253.1	+	4	448	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PCM1_ENST00000524226.1_Missense_Mutation_p.P66L|PCM1_ENST00000518936.1_3'UTR|PCM1_ENST00000325083.8_Missense_Mutation_p.P66L|PCM1_ENST00000518537.1_Missense_Mutation_p.P66L			Q15154	PCM1_HUMAN	pericentriolar material 1	66					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.P66L(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GATATTTCTCCGGAGTCGTCA	0.428			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(196-198)CCG>CTG		pericentriolar material 1		C	LEU/PRO	0,4054		0,0,2027	55.0	55.0	55.0		197	5.6	1.0	8		55	1,8333		0,1,4166	no	missense	PCM1	NM_006197.3	98	0,1,6193	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	66/2025	17794743	1,12387	2027	4167	6194	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17794743C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.197C>T	8.37:g.17794743C>T	ENSP00000431099:p.Pro66Leu					PCM1_uc011kyh.1_Missense_Mutation_p.P66L|PCM1_uc003wyj.3_Missense_Mutation_p.P66L|PCM1_uc003wyg.2_Missense_Mutation_p.P66L|PCM1_uc003wyh.2_Missense_Mutation_p.P66L|PCM1_uc010lta.1_Missense_Mutation_p.P66L	p.P66L	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	4	619	+			66					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.197C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.863915	0.91511	0.0	1.2E-4	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.27557	3.3;2.48;1.66;1.77;3.3;3.06	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.997;0.992;0.992	T	0.45264	-0.9273	10	0.87932	D	0	-9.3792	20.0691	0.97712	0.0:1.0:0.0:0.0	.	66;66;66;66	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	L	66	ENSP00000327077:P66L;ENSP00000428131:P66L;ENSP00000428123:P66L;ENSP00000429941:P66L;ENSP00000431099:P66L;ENSP00000430521:P66L	ENSP00000327077:P66L	P	+	2	0	PCM1	17839023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	2.819000	0.97034	0.585000	0.79938	CCG		PASS	0.428	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		16	20	16	20	---	---	---	---
SH2D4A	63898	broad.mit.edu	37	8	19252082	19252082	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:19252082G>T	ENST00000265807.3	+	10	1705	c.1294G>T	c.(1294-1296)Ggg>Tgg	p.G432W	SH2D4A_ENST00000519207.1_Missense_Mutation_p.G432W|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G387W	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	432	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.G432W(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CACTTCCCTGGGGAAGGAGCT	0.537																																						uc003wzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)GGG>TGG		SH2 domain containing 4A							133.0	125.0	127.0					8																	19252082		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19252082G>T	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1294G>T	8.37:g.19252082G>T	ENSP00000265807:p.Gly432Trp					SH2D4A_uc011kym.1_Missense_Mutation_p.G387W|SH2D4A_uc003wzc.2_Missense_Mutation_p.G432W	p.G432W	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	10	1630	+			432			SH2.		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.1294G>T	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190565	0.58017	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.64085	-0.08;-0.08;-0.08	5.62	5.62	0.85841	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88905	0.3355	10	0.87932	D	0	.	18.5877	0.91196	0.0:0.0:1.0:0.0	.	387;432	B4DDR1;Q9H788	.;SH24A_HUMAN	W	432;387;432	ENSP00000265807:G432W;ENSP00000429482:G387W;ENSP00000428684:G432W	ENSP00000265807:G432W	G	+	1	0	SH2D4A	19296362	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	7.506000	0.81665	2.804000	0.96469	0.655000	0.94253	GGG		PASS	0.537	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		5	80	5	80	---	---	---	---
LPL	4023	broad.mit.edu	37	8	19810842	19810842	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:19810842G>A	ENST00000311322.8	+	4	921	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	151					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.D151N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTACCCTCTGGACAATGTCCA	0.383																																						uc003wzk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(451-453)GAC>AAC		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						100.0	98.0	99.0					8																	19810842		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19810842G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.451G>A	8.37:g.19810842G>A	ENSP00000309757:p.Asp151Asn						p.D151N	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	821	+			151					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.451G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151554	0.38021	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.91407	-2.84;-2.84	5.96	5.08	0.68730	Lipase, N-terminal (1);	0.220738	0.53938	N	0.000051	D	0.85004	0.5598	L	0.33485	1.01	0.30198	N	0.798883	B	0.12013	0.005	B	0.19666	0.026	T	0.82904	-0.0226	8	.	.	.	-23.5889	13.2467	0.60028	0.077:0.0:0.9229:0.0	.	151	P06858	LIPL_HUMAN	N	75;151;75;137	ENSP00000428496:D75N;ENSP00000309757:D151N	.	D	+	1	0	LPL	19855122	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.012000	0.64017	1.526000	0.49068	0.573000	0.79308	GAC		PASS	0.383	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			27	31	27	31	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22414361	22414361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:22414361G>A	ENST00000240123.7	+	4	737	c.354G>A	c.(352-354)tgG>tgA	p.W118*	SORBS3_ENST00000523402.1_Nonsense_Mutation_p.W118*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	118	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.W118*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACAAGCGCTGGGTCAAGTACG	0.657																																						uc003xbv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(352-354)TGG>TGA		sorbin and SH3 domain containing 3 isoform 1							80.0	74.0	76.0					8																	22414361		2203	4300	6503	SO:0001587	stop_gained	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22414361G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.354G>A	8.37:g.22414361G>A	ENSP00000240123:p.Trp118*					SORBS3_uc011kzk.1_RNA	p.W118*	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	694	+		Prostate(55;0.0421)|Breast(100;0.102)	118			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Nonsense_Mutation	SNP	ENST00000240123.7	37	c.354G>A	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.777049|5.777049	0.96929|0.96929	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000520563;ENST00000524057|ENST00000240123;ENST00000523402	.|.	.|.	.|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.40640	.|N	.|0.001046	T|.	0.71108|.	0.3301|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71293|.	-0.4636|.	4|.	.|0.41790	.|T	.|0.15	-12.8946|-12.8946	15.0347|15.0347	0.71734|0.71734	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	73;55|118	.|.	.|ENSP00000240123:W118X	G|W	+|+	1|3	0|0	SORBS3|SORBS3	22470306|22470306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.482000|6.482000	0.73613|0.73613	2.237000|2.237000	0.73441|0.73441	0.650000|0.650000	0.86243|0.86243	GGT|TGG		PASS	0.657	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		13	29	13	29	---	---	---	---
CCAR2	57805	broad.mit.edu	37	8	22464806	22464806	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:22464806C>T	ENST00000308511.4	+	6	704	c.455C>T	c.(454-456)cCt>cTt	p.P152L	CCAR2_ENST00000520861.1_5'UTR|CCAR2_ENST00000389279.3_Missense_Mutation_p.P152L			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	152					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.P152L(1)									ATCTTCCAGCCTCACCGGATT	0.552																																						uc003xch.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(454-456)CCT>CTT		p30 DBC protein							82.0	69.0	73.0					8																	22464806		2203	4300	6503	SO:0001583	missense	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22464806C>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.455C>T	8.37:g.22464806C>T	ENSP00000310670:p.Pro152Leu					KIAA1967_uc003xci.2_Missense_Mutation_p.P152L|KIAA1967_uc003xcj.1_5'UTR	p.P152L	NM_199205	NP_954675	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	592	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	152					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.455C>T	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961063	0.53400	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000523349	T;T	0.33438	1.41;1.41	6.17	4.34	0.51931	.	0.069910	0.64402	D	0.000019	T	0.20659	0.0497	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03443	-1.1036	10	0.62326	D	0.03	-9.2843	9.3242	0.37982	0.1532:0.7731:0.0:0.0737	.	152	Q8N163	K1967_HUMAN	L	152	ENSP00000310670:P152L;ENSP00000373930:P152L	ENSP00000310670:P152L	P	+	2	0	KIAA1967	22520751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.045000	0.30341	0.872000	0.35775	0.655000	0.94253	CCT		PASS	0.552	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		16	41	16	41	---	---	---	---
CCAR2	57805	broad.mit.edu	37	8	22472971	22472971	+	Silent	SNP	G	G	T	rs372298997		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:22472971G>T	ENST00000308511.4	+	12	1488	c.1239G>T	c.(1237-1239)ccG>ccT	p.P413P	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_Silent_p.P88P|CCAR2_ENST00000389279.3_Silent_p.P413P			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	413					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.P413P(1)									ACCTGCAGCCGGGACCCCCCC	0.582																																						uc003xch.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1237-1239)CCG>CCT		p30 DBC protein							68.0	80.0	76.0					8																	22472971		2203	4300	6503	SO:0001819	synonymous_variant	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472971G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1239G>T	8.37:g.22472971G>T						KIAA1967_uc003xci.2_Silent_p.P413P|KIAA1967_uc003xcj.1_Silent_p.P82P	p.P413P	NM_199205	NP_954675	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	12	1376	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	413					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Silent	SNP	ENST00000308511.4	37	c.1239G>T	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	2.688	-0.273798	0.05679	.	.	ENSG00000158941	ENST00000520738	.	.	.	5.5	-5.73	0.02398	.	.	.	.	.	T	0.62527	0.2435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63323	-0.6663	4	.	.	.	-8.8158	14.6988	0.69142	0.6539:0.0:0.3461:0.0	.	.	.	.	L	105	.	.	R	+	2	0	KIAA1967	22528916	0.018000	0.18449	0.110000	0.21437	0.448000	0.32197	-0.818000	0.04467	-1.590000	0.01623	-1.202000	0.01658	CGG		PASS	0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		4	75	4	75	---	---	---	---
ADAM7	8756	broad.mit.edu	37	8	24344734	24344734	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:24344734G>A	ENST00000175238.6	+	11	1078	c.995G>A	c.(994-996)aGa>aAa	p.R332K	ADAM7_ENST00000520720.1_Missense_Mutation_p.R104K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R332K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	332	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R332K(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTGCAAACAGAATGGCACAT	0.408																																						uc003xeb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|kidney(1)	5						c.(994-996)AGA>AAA		a disintegrin and metalloproteinase domain 7							116.0	89.0	99.0					8																	24344734		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24344734G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.995G>A	8.37:g.24344734G>A	ENSP00000175238:p.Arg332Lys					ADAM7_uc003xec.2_Missense_Mutation_p.R104K	p.R332K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	11	1108	+		Prostate(55;0.0181)	332			Peptidase M12B.|Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.995G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600602	0.13939	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.29142	1.58;1.58;1.58	5.25	2.05	0.26809	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.313614	0.27586	N	0.018719	T	0.19167	0.0460	L	0.39397	1.21	0.21762	N	0.999559	B;B	0.33171	0.134;0.4	B;B	0.34873	0.047;0.191	T	0.08310	-1.0728	10	0.37606	T	0.19	.	0.9674	0.01408	0.2121:0.1812:0.419:0.1877	.	104;332	E5RK87;Q9H2U9	.;ADAM7_HUMAN	K	332;332;104;147	ENSP00000175238:R332K;ENSP00000370166:R332K;ENSP00000430400:R104K	ENSP00000175238:R332K	R	+	2	0	ADAM7	24400624	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	0.745000	0.26259	1.217000	0.43442	0.561000	0.74099	AGA		PASS	0.408	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		8	44	8	44	---	---	---	---
NEFL	4747	broad.mit.edu	37	8	24811165	24811165	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:24811165G>A	ENST00000221169.5	-	0	1908				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.S438S(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGACGGGAAGGAGCGGGTGG	0.582																																						uc003xee.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1312-1314)TCC>TCT		neurofilament, light polypeptide 68kDa							73.0	79.0	77.0					8																	24811165		1963	4156	6119			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811165G>A		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811165G>A							p.S438S	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	1416	-		Ovarian(32;0.00965)|Prostate(55;0.157)	438			Tail.|Tail, subdomain A.		B9ZVN2|Q16154|Q8IU72	Silent	SNP	ENST00000221169.5	37	c.1314C>T																																																																																					PASS	0.582	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		11	37	11	37	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25246721	25246721	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:25246721G>A	ENST00000276440.7	+	41	4290	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1416	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1416K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCCTCCTGGGGAAGACATCAA	0.567																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4246-4248)GAA>AAA		dedicator of cytokinesis 5							124.0	111.0	115.0					8																	25246721		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25246721G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4246G>A	8.37:g.25246721G>A	ENSP00000276440:p.Glu1416Lys					PPP2R2A_uc003xek.2_Missense_Mutation_p.E205K|DOCK5_uc003xei.2_Missense_Mutation_p.E986K|DOCK5_uc003xej.2_RNA	p.E1416K	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	41	4383	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1416			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4246G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509301	0.64522	.	.	ENSG00000147459	ENST00000276440	T	0.04194	3.68	5.21	5.21	0.72293	.	0.222905	0.45867	D	0.000332	T	0.15652	0.0377	L	0.49571	1.57	0.58432	D	0.999991	D;B;B	0.55172	0.97;0.024;0.024	P;B;B	0.61397	0.888;0.016;0.016	T	0.00844	-1.1543	10	0.35671	T	0.21	.	19.124	0.93375	0.0:0.0:1.0:0.0	.	205;1406;1416	Q6ZP32;D3DSS6;Q9H7D0	.;.;DOCK5_HUMAN	K	1416	ENSP00000276440:E1416K	ENSP00000276440:E1416K	E	+	1	0	DOCK5	25302638	1.000000	0.71417	0.995000	0.50966	0.527000	0.34593	9.813000	0.99286	2.581000	0.87130	0.555000	0.69702	GAA		PASS	0.567	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		23	63	23	63	---	---	---	---
PNMA2	10687	broad.mit.edu	37	8	26365669	26365669	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:26365669T>A	ENST00000522362.2	-	3	1497	c.603A>T	c.(601-603)gaA>gaT	p.E201D	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	201					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)		p.E201D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		accttttcttttctgcctctg	0.567																																						uc003xez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GAA>GAT		paraneoplastic antigen MA2							81.0	84.0	83.0					8																	26365669		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365669T>A		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.603A>T	8.37:g.26365669T>A	ENSP00000429344:p.Glu201Asp						p.E201D	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1373	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	201					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.603A>T	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344643	0.41498	.	.	ENSG00000240694	ENST00000522362	T	0.13420	2.59	4.22	0.503	0.16940	.	.	.	.	.	T	0.13030	0.0316	M	0.64997	1.995	0.26833	N	0.968533	P	0.40000	0.698	B	0.36335	0.222	T	0.13791	-1.0496	9	0.54805	T	0.06	-24.6234	6.0259	0.19654	0.0:0.3627:0.0:0.6373	.	201	Q9UL42	PNMA2_HUMAN	D	201	ENSP00000429344:E201D	ENSP00000429344:E201D	E	-	3	2	PNMA2	26421586	1.000000	0.71417	0.999000	0.59377	0.661000	0.39034	0.975000	0.29449	0.084000	0.17077	-0.256000	0.11100	GAA		PASS	0.567	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		22	31	22	31	---	---	---	---
TRIM35	23087	broad.mit.edu	37	8	27151768	27151768	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:27151768G>A	ENST00000305364.4	-	3	674	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRIM35_ENST00000521253.1_Silent_p.F165F	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	197					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F197F(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCACTCTCAAGAACTCGCGAA	0.577																																						uc003xfl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(589-591)TTC>TTT		tripartite motif-containing 35 isoform 2							67.0	59.0	62.0					8																	27151768		2203	4300	6503	SO:0001819	synonymous_variant	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27151768G>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.591C>T	8.37:g.27151768G>A						TRIM35_uc010lup.1_Silent_p.F165F|TRIM35_uc003xfm.1_RNA	p.F197F	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	3	673	-		Ovarian(32;2.61e-05)	197					Q86XQ0|Q8WVA4	Silent	SNP	ENST00000305364.4	37	c.591C>T	CCDS6056.2																																																																																				PASS	0.577	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		14	43	14	43	---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516678	27516678	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:27516678C>T	ENST00000301904.3	+	5	1011	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	SCARA3_ENST00000337221.4_Missense_Mutation_p.H331Y	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	331					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)	p.H331Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TCTTCAGTACCATACCCACTA	0.522																																						uc003xga.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(991-993)CAT>TAT		scavenger receptor class A, member 3 isoform 1							143.0	118.0	127.0					8																	27516678		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516678C>T	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.991C>T	8.37:g.27516678C>T	ENSP00000301904:p.His331Tyr					SCARA3_uc003xgb.1_Missense_Mutation_p.H331Y	p.H331Y	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	1132	+		Ovarian(32;2.61e-05)	331			Extracellular (Potential).		Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.991C>T	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514928	0.64634	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;T	0.78364	-1.17;2.02	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	L	0.32530	0.975	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.72124	-0.4385	10	0.02654	T	1	-29.9206	18.0507	0.89347	0.0:1.0:0.0:0.0	.	331;331	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	Y	331	ENSP00000337985:H331Y;ENSP00000301904:H331Y	ENSP00000301904:H331Y	H	+	1	0	SCARA3	27572597	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.380000	0.79704	2.861000	0.98227	0.655000	0.94253	CAT		PASS	0.522	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		33	52	33	52	---	---	---	---
ELP3	55140	broad.mit.edu	37	8	27989846	27989846	+	Silent	SNP	C	C	T	rs368317768		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:27989846C>T	ENST00000256398.8	+	9	1208	c.831C>T	c.(829-831)tcC>tcT	p.S277S	ELP3_ENST00000542181.1_Silent_p.S148S|ELP3_ENST00000537665.1_Silent_p.S158S|ELP3_ENST00000521015.1_Silent_p.S263S|ELP3_ENST00000524103.1_Silent_p.S205S|ELP3_ENST00000380353.4_Silent_p.S185S	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	277					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.S277S(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCAAAGATTCCGGTTTTAAAG	0.463																																						uc003xgo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)TCC>TCT		elongation protein 3 homolog		C		1,4405	2.1+/-5.4	0,1,2202	125.0	107.0	113.0		831	0.1	1.0	8		113	0,8600		0,0,4300	no	coding-synonymous	ELP3	NM_018091.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		277/548	27989846	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27989846C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.831C>T	8.37:g.27989846C>T						ELP3_uc003xgn.3_Silent_p.S262S|ELP3_uc011laq.1_Silent_p.S205S|ELP3_uc011lar.1_Silent_p.S185S|ELP3_uc011las.1_Silent_p.S158S|ELP3_uc011lat.1_Silent_p.S158S	p.S277S	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	9	979	+		Ovarian(32;0.0218)	277					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.831C>T	CCDS6065.1																																																																																				PASS	0.463	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		20	25	20	25	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927250	29927250	+	Missense_Mutation	SNP	G	G	T	rs561853962		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:29927250G>T	ENST00000256255.6	-	3	865	c.608C>A	c.(607-609)cCg>cAg	p.P203Q	TMEM66_ENST00000545648.1_Missense_Mutation_p.P31Q|TMEM66_ENST00000536273.1_Missense_Mutation_p.P31Q	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		203					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.P203Q(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CTCAGAGTACGGTGGAGGAGA	0.483																																						uc003xhs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)CCG>CAG		transmembrane protein 66 precursor							109.0	95.0	100.0					8																	29927250		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927250G>T																												ENST00000256255.6:c.608C>A	8.37:g.29927250G>T	ENSP00000256255:p.Pro203Gln					TMEM66_uc003xht.2_Missense_Mutation_p.P203Q|TMEM66_uc003xhu.2_Missense_Mutation_p.P167Q|TMEM66_uc003xhv.2_Missense_Mutation_p.P31Q	p.P203Q	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	792	-			203					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.608C>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.14|14.14	2.446989|2.446989	0.43429|0.43429	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000521265	T;T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02;1.02|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.562718|.	0.18818|.	N|.	0.130339|.	T|T	0.75148|0.75148	0.3810|0.3810	M|M	0.72118|0.72118	2.19|2.19	0.41159|0.41159	D|D	0.986086|0.986086	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.74544|0.74544	-0.3630|-0.3630	10|5	0.13108|.	T|.	0.6|.	-21.4317|-21.4317	17.2064|17.2064	0.86920|0.86920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	203;203|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	Q|S	203;31;167;31;101;167|203	ENSP00000256255:P203Q;ENSP00000441351:P31Q;ENSP00000441723:P31Q;ENSP00000428323:P101Q;ENSP00000429630:P167Q|.	ENSP00000256255:P203Q|.	P|R	-|-	2|1	0|0	TMEM66|TMEM66	30046792|30046792	1.000000|1.000000	0.71417|0.71417	0.643000|0.643000	0.29450|0.29450	0.131000|0.131000	0.20780|0.20780	3.859000|3.859000	0.55987|0.55987	2.664000|2.664000	0.90586|0.90586	0.650000|0.650000	0.86243|0.86243	CCG|CGT		PASS	0.483	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			5	98	5	98	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30695230	30695231	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:30695230_30695231CC>TT	ENST00000256246.2	-	3	7494_7495	c.7420_7421GG>AA	c.(7420-7422)GGg>AAg	p.G2474K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2474					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.G2474R(1)|p.G2474K(1)|p.G2474E(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGCGTCCCATGGTCTGGT	0.396																																						uc003xil.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7420-7422)GGG>GAG|c.(7420-7422)GGG>AGG		testis expressed 15																																				SO:0001583	missense	56154							g.chr8:30695230C>T|g.chr8:30695231C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7420_7421delinsTT	8.37:g.30695230_30695231delinsTT	ENSP00000256246:p.Gly2474Lys						p.G2474E|p.G2474R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7421|7420	-			2474						Missense_Mutation	SNP	ENST00000256246.2	37	c.7421G>A|c.7420G>A	CCDS6080.1																																																																																				PASS	0.396	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			51|53	76|77	51	76	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30703109	30703109	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:30703109G>A	ENST00000256246.2	-	1	3499	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1142	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1142F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTACTTTGGGATGTGGAGGA	0.403																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3424-3426)TCC>TTC		testis expressed 15							90.0	81.0	84.0					8																	30703109		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30703109G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3425C>T	8.37:g.30703109G>A	ENSP00000256246:p.Ser1142Phe						p.S1142F	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3425	-			1142			Ser-rich.			Missense_Mutation	SNP	ENST00000256246.2	37	c.3425C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858032	0.51376	.	.	ENSG00000133863	ENST00000256246	T	0.14144	2.53	5.53	2.61	0.31194	.	0.916040	0.09330	N	0.817092	T	0.11324	0.0276	L	0.38175	1.15	0.09310	N	1	B	0.21071	0.051	B	0.24155	0.051	T	0.28396	-1.0045	10	0.87932	D	0	.	4.1083	0.10047	0.1893:0.0:0.6248:0.186	.	1142	Q9BXT5	TEX15_HUMAN	F	1142	ENSP00000256246:S1142F	ENSP00000256246:S1142F	S	-	2	0	TEX15	30822651	0.034000	0.19679	0.044000	0.18714	0.010000	0.07245	0.607000	0.24209	1.464000	0.47987	0.563000	0.77884	TCC		PASS	0.403	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			19	36	19	36	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30705259	30705259	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:30705259C>T	ENST00000256246.2	-	1	1349	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	425					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.R425R(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCATTTTTCCTATGGACAC	0.333																																						uc003xil.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(1273-1275)AGG>AGA		testis expressed 15							134.0	133.0	133.0					8																	30705259		2203	4299	6502	SO:0001819	synonymous_variant	56154							g.chr8:30705259C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1275G>A	8.37:g.30705259C>T							p.R425R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1275	-			425						Silent	SNP	ENST00000256246.2	37	c.1275G>A	CCDS6080.1																																																																																				PASS	0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			26	72	26	72	---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32621468	32621468	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:32621468T>A	ENST00000405005.3	+	12	1471	c.1471T>A	c.(1471-1473)Ttt>Att	p.F491I	NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.F499I|NRG1_ENST00000539990.1_Missense_Mutation_p.F334I|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000287842.3_Missense_Mutation_p.F488I|NRG1_ENST00000356819.4_Missense_Mutation_p.F496I|NRG1_ENST00000287845.5_Missense_Mutation_p.F462I|NRG1_ENST00000519301.1_Missense_Mutation_p.F441I|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	491					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.F496I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAGAAGAAGTTTGACCATCA	0.567																																						uc003xiv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1471-1473)TTT>ATT		neuregulin 1 isoform HRG-alpha							147.0	111.0	123.0					8																	32621468		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621468T>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1471T>A	8.37:g.32621468T>A	ENSP00000384620:p.Phe491Ile					NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.F496I|NRG1_uc003xiw.2_Missense_Mutation_p.F488I|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.F233I|NRG1_uc010lvs.2_Missense_Mutation_p.F233I|NRG1_uc010lvp.2_Missense_Mutation_p.F445I|NRG1_uc010lvq.2_Missense_Mutation_p.F428I|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.F334I|NRG1_uc003xja.2_Missense_Mutation_p.F302I	p.F491I	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	12	1988	+		Breast(100;0.203)	491			Cytoplasmic (Potential).		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1471T>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	T	4.527	0.097765	0.08681	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.88	-2.26	0.06867	Neuregulin 1-related, C-terminal (1);	1.358990	0.04429	N	0.368809	T	0.33527	0.0866	N	0.08118	0	0.09310	N	0.999994	B;B;B;B;B;B;B	0.24186	0.012;0.099;0.07;0.0;0.057;0.07;0.057	B;B;B;B;B;B;B	0.34038	0.021;0.075;0.155;0.0;0.075;0.174;0.096	T	0.28332	-1.0047	10	0.23891	T	0.37	0.3851	7.0193	0.24904	0.0:0.2387:0.1319:0.6294	.	334;462;496;499;488;491;496	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	I	458;441;564;499;496;491;462;488;491;334	ENSP00000430053:F458I;ENSP00000429582:F441I;ENSP00000429067:F564I;ENSP00000343395:F499I;ENSP00000349275:F496I;ENSP00000287840:F491I;ENSP00000287845:F462I;ENSP00000287842:F488I;ENSP00000384620:F491I;ENSP00000439276:F334I	ENSP00000287840:F491I	F	+	1	0	NRG1	32741010	0.926000	0.31397	0.168000	0.22838	0.090000	0.18270	0.605000	0.24179	-0.632000	0.05553	-0.385000	0.06624	TTT		PASS	0.567	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			32	48	32	48	---	---	---	---
FUT10	84750	broad.mit.edu	37	8	33310821	33310821	+	Silent	SNP	A	A	G	rs552577453		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:33310821A>G	ENST00000327671.5	-	3	920	c.289T>C	c.(289-291)Tta>Cta	p.L97L	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Silent_p.L69L|FUT10_ENST00000518672.1_Silent_p.L69L|FUT10_ENST00000335589.3_Missense_Mutation_p.V22A	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	97					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.L97L(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CATTGGCCTAACCTCCCAGTC	0.488																																						uc003xje.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(289-291)TTA>CTA		fucosyltransferase 10							137.0	122.0	127.0					8																	33310821		2203	4300	6503	SO:0001819	synonymous_variant	84750				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33310821A>G	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.289T>C	8.37:g.33310821A>G						FUT10_uc003xjc.2_Silent_p.L104L|FUT10_uc003xjd.2_Silent_p.L69L|FUT10_uc011lbi.1_Silent_p.L147L|FUT10_uc003xjf.2_Missense_Mutation_p.V22A|FUT10_uc003xjg.2_Silent_p.L69L|FUT10_uc003xjh.2_Silent_p.L97L|FUT10_uc003xji.1_Silent_p.L97L	p.L97L	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	645	-			97			Lumenal (Potential).		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	c.289T>C	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678324	0.29783	.	.	ENSG00000172728	ENST00000335589	T	0.39229	1.09	5.73	-1.8	0.07907	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.26883	-1.0090	8	0.16420	T	0.52	-9.4683	6.4206	0.21742	0.4749:0.1288:0.3963:0.0	.	22	Q6P4F1-3	.	A	22	ENSP00000334997:V22A	ENSP00000334997:V22A	V	-	2	0	FUT10	33430363	0.758000	0.28405	0.159000	0.22649	0.132000	0.20833	0.235000	0.17948	-0.210000	0.10140	-0.290000	0.09829	GTT		PASS	0.488	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		19	45	19	45	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35406913	35406913	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:35406913C>T	ENST00000404895.2	+	2	535	c.207C>T	c.(205-207)aaC>aaT	p.N69N	UNC5D_ENST00000287272.2_Silent_p.N69N|UNC5D_ENST00000420357.1_Silent_p.N69N|UNC5D_ENST00000416672.1_Silent_p.N69N|UNC5D_ENST00000453357.2_Silent_p.N64N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	69	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.N64N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAGAGCAACCCTATTGCAC	0.512																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(205-207)AAC>AAT		unc-5 homolog D precursor							67.0	61.0	63.0					8																	35406913		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406913C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.207C>T	8.37:g.35406913C>T						UNC5D_uc003xjs.1_Silent_p.N64N	p.N69N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	535	+			69			Extracellular (Potential).|Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.207C>T	CCDS6093.2																																																																																				PASS	0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			16	43	16	43	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36673128	36673128	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:36673128C>T	ENST00000399881.3	+	9	955	c.918C>T	c.(916-918)aaC>aaT	p.N306N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	306					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.N306N(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATTTGCGAACTATATACCTG	0.313																																						uc010lvw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(916-918)AAC>AAT		potassium channel, subfamily U, member 1							82.0	80.0	81.0					8																	36673128		1812	4078	5890	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36673128C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.918C>T	8.37:g.36673128C>T						KCNU1_uc003xjw.2_RNA	p.N306N	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	9	1005	+			306			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000399881.3	37	c.918C>T	CCDS55220.1																																																																																				PASS	0.313	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		14	34	14	34	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37795246	37795246	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:37795246C>T	ENST00000307599.4	-	3	418	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	GOT1L1_ENST00000518826.1_5'Flank	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	107					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.G107S(2)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCACTGTCACCAACAGTGTGT	0.498																																						uc011lbj.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(319-321)GGT>AGT		glutamic-oxaloacetic transaminase 1-like 1							61.0	63.0	62.0					8																	37795246		2023	4173	6196	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37795246C>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.319G>A	8.37:g.37795246C>T	ENSP00000303077:p.Gly107Ser						p.G107S	NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		3	419	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	107					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.319G>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638165	0.29157	.	.	ENSG00000169154	ENST00000307599;ENST00000524298	T;T	0.62498	0.02;0.02	4.56	4.56	0.56223	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	T	0.41213	0.1149	N	0.20881	0.62	0.80722	D	1	B	0.32283	0.362	B	0.29176	0.099	T	0.38564	-0.9655	10	0.02654	T	1	-13.584	12.759	0.57352	0.0:1.0:0.0:0.0	.	107	Q8NHS2	AATC2_HUMAN	S	107;139	ENSP00000303077:G107S;ENSP00000430453:G139S	ENSP00000303077:G107S	G	-	1	0	GOT1L1	37914403	0.999000	0.42202	0.941000	0.38009	0.989000	0.77384	4.908000	0.63307	2.388000	0.81334	0.549000	0.68633	GGT		PASS	0.498	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		7	18	7	18	---	---	---	---
LSM1	27257	broad.mit.edu	37	8	38029512	38029512	+	Missense_Mutation	SNP	A	A	G	rs201992884		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:38029512A>G	ENST00000311351.4	-	2	481	c.86T>C	c.(85-87)aTa>aCa	p.I29T	LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_Missense_Mutation_p.I29T	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	29					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)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.I29T(1)		kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					TAAAAAGCCTATAAGTGTCCT	0.343											OREG0018720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xkw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)ATA>ACA		Lsm1 protein		A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	97.0	102.0	100.0		86	5.9	1.0	8		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LSM1	NM_014462.1	89	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	probably-damaging	29/134	38029512	2,13004	2203	4300	6503	SO:0001583	missense	27257				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38029512A>G	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.86T>C	8.37:g.38029512A>G	ENSP00000310596:p.Ile29Thr		OREG0018720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	LSM1_uc003xkx.2_RNA	p.I29T	NM_014462	NP_055277	O15116	LSM1_HUMAN			2	274	-	Colorectal(12;0.000442)		29					B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.86T>C	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580637	0.86645	2.27E-4	1.16E-4	ENSG00000175324	ENST00000311351;ENST00000520755	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.086414	0.85682	D	0.000000	T	0.62527	0.2435	M	0.66297	2.02	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	T	0.63954	-0.6520	10	0.54805	T	0.06	-11.5652	15.3562	0.74428	1.0:0.0:0.0:0.0	.	29	O15116	LSM1_HUMAN	T	29	ENSP00000310596:I29T;ENSP00000430021:I29T	ENSP00000310596:I29T	I	-	2	0	LSM1	38148669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.661000	0.91125	2.273000	0.75805	0.482000	0.46254	ATA		PASS	0.343	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		18	37	18	37	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39496021	39496022	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39496021_39496022CC>TT	ENST00000265707.5	+	10	910_911	c.865_866CC>TT	c.(865-867)CCt>TTt	p.P289F	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P265F	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	289	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P289S(1)|p.P289L(1)|p.P289F(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCAACATTTCCTGGCACTGTA	0.277																																						uc003xni.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(865-867)CCT>TCT|c.(865-867)CCT>CTT		a disintegrin and metalloprotease domain 18																																				SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39496021C>T|g.chr8:39496022C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	Exception_encountered	8.37:g.39496021_39496022delinsTT	ENSP00000265707:p.Pro289Phe					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P265S|ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P265L	p.P289S|p.P289L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		10	865|866	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	289			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.865C>T|c.866C>T	CCDS6113.1																																																																																				PASS	0.277	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		4	15|16	4	15	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39496065	39496065	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39496065G>A	ENST00000265707.5	+	10	954	c.909G>A	c.(907-909)atG>atA	p.M303I	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Splice_Site_p.M279I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M303I(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTATTGCTATGGTATGTAATT	0.269																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(907-909)ATG>ATA		a disintegrin and metalloprotease domain 18							112.0	106.0	108.0					8																	39496065		2203	4296	6499	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39496065G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.909+1G>A	8.37:g.39496065G>A						ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.M279I	p.M303I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		10	909	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	303			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.909G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861835	0.32884	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09350	2.99;2.99	5.44	5.44	0.79542	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.739390	0.02966	N	0.143791	T	0.16300	0.0392	L	0.47716	1.5	0.80722	D	1	B;B	0.18741	0.024;0.03	B;B	0.22152	0.022;0.038	T	0.26916	-1.0089	10	0.23302	T	0.38	.	14.6884	0.69065	0.0:0.0:1.0:0.0	.	279;303	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	303;279;235	ENSP00000265707:M303I;ENSP00000369195:M279I	ENSP00000265707:M303I	M	+	3	0	ADAM18	39615222	1.000000	0.71417	0.971000	0.41717	0.247000	0.25773	3.762000	0.55250	2.841000	0.97950	0.644000	0.83932	ATG		PASS	0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Missense_Mutation	9	16	9	16	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39521342	39521342	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39521342A>C	ENST00000265707.5	+	13	1304	c.1259A>C	c.(1258-1260)tAt>tCt	p.Y420S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.Y396S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	420	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y420S(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGCTGTGATTATAACACATGT	0.308																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1258-1260)TAT>TCT		a disintegrin and metalloprotease domain 18							91.0	89.0	89.0					8																	39521342		2203	4299	6502	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39521342A>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1259A>C	8.37:g.39521342A>C	ENSP00000265707:p.Tyr420Ser					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y396S	p.Y420S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		13	1259	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	420			Disintegrin.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1259A>C	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	8.842	0.942510	0.18281	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10099	2.91;2.91	5.84	0.51	0.16983	Blood coagulation inhibitor, Disintegrin (5);	0.509796	0.16678	N	0.204061	T	0.03959	0.0111	N	0.04746	-0.17	0.21325	N	0.999729	B;B	0.09022	0.002;0.002	B;B	0.20384	0.017;0.029	T	0.46091	-0.9216	10	0.11794	T	0.64	.	5.6968	0.17861	0.3973:0.1452:0.0:0.4575	.	396;420	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	S	420;396;352	ENSP00000265707:Y420S;ENSP00000369195:Y396S	ENSP00000265707:Y420S	Y	+	2	0	ADAM18	39640499	0.015000	0.18098	0.610000	0.28997	0.984000	0.73092	-0.060000	0.11712	0.517000	0.28361	0.528000	0.53228	TAT		PASS	0.308	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		16	27	16	27	---	---	---	---
IDO1	3620	broad.mit.edu	37	8	39782800	39782800	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39782800C>T	ENST00000518237.1	+	9	1405	c.766C>T	c.(766-768)Cca>Tca	p.P256S	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.P256S	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	256					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.P256S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CTGGGAAGACCCAAAGGAGTT	0.507																																						uc003xnm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(766-768)CCA>TCA		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						40.0	44.0	43.0					8																	39782800		1913	4128	6041	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39782800C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.766C>T	8.37:g.39782800C>T	ENSP00000430950:p.Pro256Ser					IDO1_uc003xnn.2_RNA	p.P256S	NM_002164	NP_002155	P14902	I23O1_HUMAN			9	880	+			256					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.766C>T	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664978	0.29604	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.50277	0.75;0.75	5.55	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.65491	0.2696	M	0.86028	2.79	0.44946	D	0.997961	D	0.56521	0.976	P	0.54965	0.765	T	0.71842	-0.4470	9	.	.	.	-23.6633	14.3676	0.66817	0.0:0.8512:0.1488:0.0	.	256	P14902	I23O1_HUMAN	S	256	ENSP00000430505:P256S;ENSP00000430950:P256S	.	P	+	1	0	IDO1	39901957	0.993000	0.37304	0.415000	0.26534	0.001000	0.01503	4.227000	0.58612	1.584000	0.49913	-0.150000	0.13652	CCA		PASS	0.507	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		11	17	11	17	---	---	---	---
IDO2	169355	broad.mit.edu	37	8	39845390	39845390	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39845390G>A	ENST00000389060.4	+	6	450	c.450G>A	c.(448-450)ggG>ggA	p.G150G	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Splice_Site_p.G163G			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	150					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.G163G(1)|p.G150G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCTTCCCAAGGAACCTGGAGA	0.512																																						uc010lwy.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(487-489)GGG>GGA		indoleamine-pyrrole 2,3 dioxygenase-like 1							90.0	88.0	89.0					8																	39845390		1921	4133	6054	SO:0001630	splice_region_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39845390G>A	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.450-1G>A	8.37:g.39845390G>A						IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	p.G163G	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			7	731	+			150					A4UD41	Silent	SNP	ENST00000389060.4	37	c.489G>A																																																																																					PASS	0.512	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294	Silent	7	17	7	17	---	---	---	---
IDO2	169355	broad.mit.edu	37	8	39845422	39845422	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:39845422G>A	ENST00000389060.4	+	6	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.G174E			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	161					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.G174E(1)|p.G161E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TTTCCTGGGGGAGAGAGCCTG	0.478																																						uc010lwy.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(520-522)GGA>GAA		indoleamine-pyrrole 2,3 dioxygenase-like 1							92.0	92.0	92.0					8																	39845422		1883	4120	6003	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39845422G>A	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.482G>A	8.37:g.39845422G>A	ENSP00000426447:p.Gly161Glu					IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR	p.G174E	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			7	763	+			161					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	16.83	3.231500	0.58777	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.42131	0.98;0.98	5.62	4.74	0.60224	.	0.103047	0.64402	N	0.000003	T	0.68302	0.2986	M	0.90082	3.085	0.44547	D	0.997503	D	0.89917	1.0	D	0.97110	1.0	T	0.73773	-0.3877	9	.	.	.	.	10.6482	0.45632	0.0883:0.0:0.9117:0.0	.	174	F5H5G0	.	E	174;161	ENSP00000443432:G174E;ENSP00000426447:G161E	.	G	+	2	0	IDO2	39964579	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	3.834000	0.55798	1.387000	0.46486	0.655000	0.94253	GGA		PASS	0.478	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		14	26	14	26	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41800488	41800488	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:41800488G>A	ENST00000396930.3	-	15	2802	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	KAT6A_ENST00000406337.1_Silent_p.I753I|KAT6A_ENST00000265713.2_Silent_p.I753I|KAT6A_ENST00000485568.1_Silent_p.I753I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	753	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I753I(1)									TGTGATCCTGGATAAGTTTTT	0.418																																						uc010lxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2257-2259)ATC>ATT		MYST histone acetyltransferase (monocytic							97.0	92.0	94.0					8																	41800488		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41800488G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2259C>T	8.37:g.41800488G>A						MYST3_uc010lxc.2_Silent_p.I753I|MYST3_uc003xon.3_Silent_p.I753I|MYST3_uc010lxd.2_Silent_p.I753I	p.I753I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		15	2803	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	753			Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.2259C>T	CCDS6124.1																																																																																				PASS	0.418	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	51	9	51	---	---	---	---
AP3M2	10947	broad.mit.edu	37	8	42019934	42019934	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:42019934C>T	ENST00000518421.1	+	5	872	c.581C>T	c.(580-582)tCa>tTa	p.S194L	AP3M2_ENST00000174653.3_Missense_Mutation_p.S194L|AP3M2_ENST00000517922.1_Missense_Mutation_p.S194L|AP3M2_ENST00000396926.3_Missense_Mutation_p.S194L|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	194	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.S194L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ATTGATAAATCAGGTAGGTGC	0.383																																						uc003xop.2																			1	Substitution - Missense(1)		lung(1)		0						c.(580-582)TCA>TTA		adaptor-related protein complex 3, mu 2 subunit							191.0	211.0	204.0					8																	42019934		2203	4300	6503	SO:0001583	missense	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42019934C>T	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.581C>T	8.37:g.42019934C>T	ENSP00000428787:p.Ser194Leu					AP3M2_uc003xoo.2_Missense_Mutation_p.S194L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.S79L|AP3M2_uc003xor.1_Missense_Mutation_p.S194L	p.S194L	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		5	872	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	194			MHD.		B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	c.581C>T	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517903	0.85495	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.4	5.4	0.78164	Clathrin adaptor, mu subunit, C-terminal (3);	0.062451	0.64402	D	0.000002	T	0.47619	0.1455	M	0.91459	3.21	0.80722	D	1	B;B	0.22800	0.075;0.048	B;B	0.39339	0.297;0.201	T	0.54450	-0.8292	10	0.72032	D	0.01	-9.5168	19.5969	0.95544	0.0:1.0:0.0:0.0	.	194;194	E7ER80;P53677	.;AP3M2_HUMAN	L	194;194;194;79;194	ENSP00000428787:S194L;ENSP00000174653:S194L;ENSP00000380132:S194L;ENSP00000430616:S79L;ENSP00000429435:S194L	ENSP00000174653:S194L	S	+	2	0	AP3M2	42139091	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.445000	0.80570	2.716000	0.92895	0.650000	0.86243	TCA		PASS	0.383	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			85	138	85	138	---	---	---	---
POLB	5423	broad.mit.edu	37	8	42214872	42214872	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:42214872C>T	ENST00000265421.4	+	9	682	c.512C>T	c.(511-513)tCt>tTt	p.S171F	POLB_ENST00000538005.1_Missense_Mutation_p.S17F	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	171					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.S171F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AAAGTGGATTCTGAATACATT	0.338								DNA polymerases (catalytic subunits)																														uc003xoz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(511-513)TCT>TTT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase beta	Cytarabine(DB00987)						72.0	70.0	71.0					8																	42214872		2202	4296	6498	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42214872C>T		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.512C>T	8.37:g.42214872C>T	ENSP00000265421:p.Ser171Phe					POLB_uc003xpa.1_Missense_Mutation_p.S171F|POLB_uc011lcs.1_Missense_Mutation_p.S17F	p.S171F	NM_002690	NP_002681	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		9	625	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	171					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.512C>T	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876336	0.91664	.	.	ENSG00000070501	ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005	T;T;T;T	0.47177	0.85;0.85;0.85;1.5	5.92	5.92	0.95590	DNA-directed DNA polymerase X (1);	0.261736	0.44097	D	0.000499	T	0.45597	0.1350	L	0.38175	1.15	0.44000	D	0.996703	B;B	0.30664	0.275;0.289	B;B	0.37144	0.242;0.195	T	0.43343	-0.9397	10	0.66056	D	0.02	-2.6091	15.8215	0.78648	0.0:1.0:0.0:0.0	.	171;171	Q53EV2;P06746	.;DPOLB_HUMAN	F	171;17;206;17	ENSP00000265421:S171F;ENSP00000430610:S17F;ENSP00000430784:S206F;ENSP00000440497:S17F	ENSP00000265421:S171F	S	+	2	0	POLB	42334029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.029000	0.64121	2.804000	0.96469	0.655000	0.94253	TCT		PASS	0.338	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		6	25	6	25	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48353097	48353097	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:48353097C>T	ENST00000297423.4	+	8	1474	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.P294S|SPIDR_ENST00000518074.1_Missense_Mutation_p.P304S	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	364	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.P364S(1)									CCGGATCTTCCCTCCCTGGTG	0.517																																						uc003xqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)CCT>TCT		hypothetical protein LOC23514							43.0	45.0	44.0					8																	48353097		1952	4151	6103	SO:0001583	missense	23514							g.chr8:48353097C>T	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1090C>T	8.37:g.48353097C>T	ENSP00000297423:p.Pro364Ser					KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.P53S|KIAA0146_uc011ldb.1_Missense_Mutation_p.P364S|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P294S|KIAA0146_uc011ldd.1_Missense_Mutation_p.P304S|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.P53S|KIAA0146_uc010lxt.2_Missense_Mutation_p.P53S	p.P364S	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			8	1099	+		Lung NSC(58;0.175)	364					B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1090C>T	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603775	0.87157	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	M	0.72894	2.215	0.49483	D	0.999797	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	T	0.81239	-0.1023	9	0.87932	D	0	.	19.1005	0.93272	0.0:1.0:0.0:0.0	.	304;294;364;364	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	S	364;304;294;53	.	ENSP00000297423:P364S	P	+	1	0	KIAA0146	48515650	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.886000	0.63149	2.611000	0.88343	0.655000	0.94253	CCT		PASS	0.517	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		13	20	13	20	---	---	---	---
C8orf22	492307	broad.mit.edu	37	8	49986642	49986642	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:49986642C>T	ENST00000303202.8	+	3	253	c.80C>T	c.(79-81)tCt>tTt	p.S27F	C8orf22_ENST00000522267.1_Missense_Mutation_p.S27F|C8orf22_ENST00000517663.1_Missense_Mutation_p.S27F|C8orf22_ENST00000399653.4_Missense_Mutation_p.S27F	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.S27Y(1)|p.S27F(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCAGTTAGTTCTTTAACTAGC	0.318																																						uc003xqq.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(79-81)TCT>TTT		hypothetical protein LOC492307							103.0	98.0	100.0					8																	49986642		1836	4093	5929	SO:0001583	missense	492307							g.chr8:49986642C>T	BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.80C>T	8.37:g.49986642C>T	ENSP00000304926:p.Ser27Phe						p.S27F	NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN			3	263	+		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	27					G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	c.80C>T	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483099	0.26598	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.06	4.06	0.47325	.	0.000000	0.43747	U	0.000526	T	0.64057	0.2564	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.55477	-0.8135	7	.	.	.	-16.5602	11.7297	0.51730	0.0:1.0:0.0:0.0	.	27	Q8WWR9-2	.	F	27	.	.	S	+	2	0	C8orf22	50149195	0.224000	0.23674	0.017000	0.16124	0.074000	0.17049	1.796000	0.38794	1.803000	0.52742	0.467000	0.42956	TCT		PASS	0.318	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176		22	30	22	30	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321427	52321427	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:52321427G>A	ENST00000356297.4	-	17	2857	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L	PXDNL_ENST00000543296.1_Silent_p.L919L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	919					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L919L(1)|p.L118L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGTCTTCAGGAGACCCCGAG	0.607																																						uc003xqu.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2755-2757)CTC>CTT		peroxidasin homolog-like precursor							27.0	32.0	30.0					8																	52321427		1951	4134	6085	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321427G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2757C>T	8.37:g.52321427G>A						PXDNL_uc003xqt.3_RNA	p.L919L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2858	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	919					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.2757C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.354	-0.943293	0.02322	.	.	ENSG00000147485	ENST00000522933	.	.	.	4.02	2.08	0.27032	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47699	-0.9097	4	.	.	.	.	7.1978	0.25864	0.1325:0.6098:0.2577:0.0	.	.	.	.	F	38	.	.	S	-	2	0	PXDNL	52483980	0.003000	0.15002	0.074000	0.20217	0.069000	0.16628	-2.001000	0.01465	0.635000	0.30488	0.655000	0.94253	TCC		PASS	0.607	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	16	8	16	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52366184	52366184	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:52366184C>T	ENST00000356297.4	-	10	1244	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PXDNL_ENST00000543296.1_Missense_Mutation_p.G382R	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	382	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G382R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTAAAGTCCACTGGACGTT	0.498																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1144-1146)GGA>AGA		peroxidasin homolog-like precursor							135.0	135.0	135.0					8																	52366184		2099	4212	6311	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366184C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1144G>A	8.37:g.52366184C>T	ENSP00000348645:p.Gly382Arg						p.G382R	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1245	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	382			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1144G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576794	0.28092	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.36340	1.26;1.26	4.08	1.21	0.21127	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43634	0.1256	L	0.41236	1.265	0.26178	N	0.979765	D	0.67145	0.996	D	0.70487	0.969	T	0.25676	-1.0125	9	0.87932	D	0	.	4.2852	0.10851	0.0:0.5917:0.1894:0.219	.	382	A1KZ92	PXDNL_HUMAN	R	382	ENSP00000348645:G382R;ENSP00000444865:G382R	ENSP00000348645:G382R	G	-	1	0	PXDNL	52528737	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.793000	0.55484	-0.074000	0.12820	-0.145000	0.13849	GGA		PASS	0.498	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		19	43	19	43	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733211	52733211	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:52733211G>A	ENST00000360540.5	-	7	1180	c.774C>T	c.(772-774)ttC>ttT	p.F258F	PCMTD1_ENST00000544451.1_Silent_p.F182F|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.F258F	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	258						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.F258F(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CATCATTTATGAAATTTCTAA	0.398																																						uc003xqx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(772-774)TTC>TTT		protein-L-isoaspartate (D-aspartate)							80.0	83.0	82.0					8																	52733211		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733211G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.774C>T	8.37:g.52733211G>A						PCMTD1_uc011ldm.1_Silent_p.F128F|PCMTD1_uc003xqw.3_Silent_p.F258F|PCMTD1_uc011ldn.1_Silent_p.F70F|PCMTD1_uc010lya.2_Silent_p.F182F	p.F258F	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1115	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	258					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.774C>T	CCDS6148.1																																																																																				PASS	0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		5	108	5	108	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53049180	53049180	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:53049180G>A	ENST00000276480.7	-	19	2953	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	757					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S757F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCCATGAGGGATTTTAGAGT	0.478																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2269-2271)TCC>TTC		suppression of tumorigenicity 18							62.0	53.0	56.0					8																	53049180		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53049180G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2270C>T	8.37:g.53049180G>A	ENSP00000276480:p.Ser757Phe					ST18_uc011ldq.1_Missense_Mutation_p.S404F|ST18_uc011ldr.1_Missense_Mutation_p.S722F|ST18_uc011lds.1_Missense_Mutation_p.S662F|ST18_uc003xra.2_Missense_Mutation_p.S757F	p.S757F	NM_014682	NP_055497	O60284	ST18_HUMAN			14	2426	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	757					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2270C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754265	0.89843	.	.	ENSG00000147488	ENST00000276480	T	0.52526	0.66	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71567	-0.4554	10	0.87932	D	0	-13.9615	20.2985	0.98592	0.0:0.0:1.0:0.0	.	757	O60284	ST18_HUMAN	F	757	ENSP00000276480:S757F	ENSP00000276480:S757F	S	-	2	0	ST18	53211733	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.795000	0.85887	2.793000	0.96121	0.655000	0.94253	TCC		PASS	0.478	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			8	11	8	11	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53071573	53071573	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:53071573C>T	ENST00000276480.7	-	15	2374	c.1691G>A	c.(1690-1692)gGt>gAt	p.G564D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	564					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G564D(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTACATTGACCGTAGCTATA	0.542																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1690-1692)GGT>GAT		suppression of tumorigenicity 18							109.0	114.0	112.0					8																	53071573		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071573C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1691G>A	8.37:g.53071573C>T	ENSP00000276480:p.Gly564Asp					ST18_uc011ldq.1_Missense_Mutation_p.G211D|ST18_uc011ldr.1_Missense_Mutation_p.G529D|ST18_uc011lds.1_Missense_Mutation_p.G469D|ST18_uc003xra.2_Missense_Mutation_p.G564D|ST18_uc003xrb.2_Missense_Mutation_p.G564D	p.G564D	NM_014682	NP_055497	O60284	ST18_HUMAN			10	1847	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	564					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1691G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505517	0.85282	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.47177	0.85;0.85	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.100735	0.64402	D	0.000001	T	0.69717	0.3142	M	0.68317	2.08	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.969	T	0.66504	-0.5907	10	0.49607	T	0.09	-9.3753	20.6634	0.99662	0.0:1.0:0.0:0.0	.	564;564	E5RHS3;O60284	.;ST18_HUMAN	D	564	ENSP00000276480:G564D;ENSP00000428521:G564D	ENSP00000276480:G564D	G	-	2	0	ST18	53234126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.359000	0.66074	2.894000	0.99253	0.655000	0.94253	GGT		PASS	0.542	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			26	38	26	38	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T	rs530224297		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	524					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R524Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		18985	0.0		0.0	False		,,,				2504	0.001					uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1570-1572)CGA>CAA		suppression of tumorigenicity 18							189.0	183.0	185.0					8																	53073958		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073958C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1571G>A	8.37:g.53073958C>T	ENSP00000276480:p.Arg524Gln					ST18_uc011ldq.1_Missense_Mutation_p.R171Q|ST18_uc011ldr.1_Missense_Mutation_p.R489Q|ST18_uc011lds.1_Missense_Mutation_p.R429Q|ST18_uc003xra.2_Missense_Mutation_p.R524Q|ST18_uc003xrb.2_Missense_Mutation_p.R524Q	p.R524Q	NM_014682	NP_055497	O60284	ST18_HUMAN			9	1727	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	524					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1571G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233589	0.22626	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.36699	1.24;1.24	5.46	0.156	0.14910	Myelin transcription factor 1 (1);	0.590344	0.18782	N	0.131303	T	0.18173	0.0436	N	0.17564	0.495	0.20873	N	0.999837	B;B	0.16396	0.017;0.001	B;B	0.06405	0.002;0.002	T	0.26395	-1.0104	10	0.14252	T	0.57	0.2015	9.6381	0.39822	0.0:0.4892:0.0:0.5108	.	524;524	E5RHS3;O60284	.;ST18_HUMAN	Q	524	ENSP00000276480:R524Q;ENSP00000428521:R524Q	ENSP00000276480:R524Q	R	-	2	0	ST18	53236511	0.297000	0.24408	0.553000	0.28255	0.919000	0.55068	-0.343000	0.07791	0.035000	0.15519	0.558000	0.71614	CGA		PASS	0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			29	42	29	42	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53084599	53084599	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:53084599T>C	ENST00000276480.7	-	10	1505	c.822A>G	c.(820-822)tcA>tcG	p.S274S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	274					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S274S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGTCAGGGAATGAGGGCTGGG	0.507																																						uc003xqz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(820-822)TCA>TCG		suppression of tumorigenicity 18							99.0	99.0	99.0					8																	53084599		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53084599T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.822A>G	8.37:g.53084599T>C						ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.S239S|ST18_uc011lds.1_Silent_p.S179S|ST18_uc003xra.2_Silent_p.S274S|ST18_uc003xrb.2_Silent_p.S274S	p.S274S	NM_014682	NP_055497	O60284	ST18_HUMAN			5	978	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	274					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.822A>G	CCDS6149.1																																																																																				PASS	0.507	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			26	35	26	35	---	---	---	---
RGS20	8601	broad.mit.edu	37	8	54791982	54791982	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:54791982C>T	ENST00000297313.3	+	2	422	c.330C>T	c.(328-330)gcC>gcT	p.A110A	RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	110					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A110A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TGCTTCCCGCCCTGCCGGCCG	0.761																																						uc003xrp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(328-330)GCC>GCT		regulator of G-protein signaling 20 isoform a							12.0	17.0	15.0					8																	54791982		2109	4222	6331	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791982C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.330C>T	8.37:g.54791982C>T						RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank	p.A110A	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	422	+			110					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.330C>T	CCDS6155.1																																																																																				PASS	0.761	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			4	12	4	12	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540154	55540154	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:55540154G>A	ENST00000220676.1	+	4	3860	c.3712G>A	c.(3712-3714)Ggt>Agt	p.G1238S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1238					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.G1238S(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)			TTTGGATGGAGGTTGCTCTGC	0.438																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(3712-3714)GGT>AGT		retinitis pigmentosa RP1 protein							129.0	124.0	126.0					8																	55540154		2203	4300	6503	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.chr8:55540154G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3712G>A	8.37:g.55540154G>A	ENSP00000220676:p.Gly1238Ser					RP1_uc011ldy.1_Intron	p.G1238S	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	3860	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1238						Missense_Mutation	SNP	ENST00000220676.1	37	c.3712G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110952	0.06924	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	4.56	0.689	0.18033	.	1.291450	0.05415	N	0.543088	T	0.11623	0.0283	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.33189	-0.9878	10	0.29301	T	0.29	.	4.7553	0.13080	0.1688:0.0:0.678:0.1532	.	1238	P56715	RP1_HUMAN	S	1238	ENSP00000220676:G1238S	ENSP00000220676:G1238S	G	+	1	0	RP1	55702707	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.037000	0.13840	-0.181000	0.10619	0.655000	0.94253	GGT		PASS	0.438	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		36	53	36	53	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540733	55540733	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:55540733G>A	ENST00000220676.1	+	4	4439	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1431					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.E1431K(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)			GTTTCAGGATGAAAATGCATA	0.373																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4291-4293)GAA>AAA		retinitis pigmentosa RP1 protein							55.0	58.0	57.0					8																	55540733		2203	4298	6501	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.chr8:55540733G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4291G>A	8.37:g.55540733G>A	ENSP00000220676:p.Glu1431Lys					RP1_uc011ldy.1_Intron	p.E1431K	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	4439	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1431						Missense_Mutation	SNP	ENST00000220676.1	37	c.4291G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	0.354	-0.943024	0.02322	.	.	ENSG00000104237	ENST00000220676	T	0.15952	2.38	5.48	1.48	0.22813	.	0.106370	0.41712	N	0.000823	T	0.03695	0.0105	N	0.00926	-1.1	0.24012	N	0.996174	B	0.02656	0.0	B	0.01281	0.0	T	0.43893	-0.9363	10	0.02654	T	1	-6.5558	6.8681	0.24104	0.7381:0.1263:0.1356:0.0	.	1431	P56715	RP1_HUMAN	K	1431	ENSP00000220676:E1431K	ENSP00000220676:E1431K	E	+	1	0	RP1	55703286	1.000000	0.71417	0.022000	0.16811	0.840000	0.47671	1.466000	0.35310	0.044000	0.15775	-0.290000	0.09829	GAA		PASS	0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		19	48	19	48	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541635	55541635	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:55541635C>T	ENST00000220676.1	+	4	5341	c.5193C>T	c.(5191-5193)atC>atT	p.I1731I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1731					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.I1731I(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)			ATAGCAGAATCCTCACAGACA	0.398																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5191-5193)ATC>ATT		retinitis pigmentosa RP1 protein							124.0	118.0	120.0					8																	55541635		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541635C>T	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.5193C>T	8.37:g.55541635C>T						RP1_uc011ldy.1_Intron	p.I1731I	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	5341	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1731						Silent	SNP	ENST00000220676.1	37	c.5193C>T	CCDS6160.1																																																																																				PASS	0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		34	44	34	44	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56436231	56436231	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:56436231G>A	ENST00000327381.6	+	3	1498	c.1398G>A	c.(1396-1398)ttG>ttA	p.L466L	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	466						integral component of membrane (GO:0016021)		p.L466L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGATCCTTTTGGAAAATACAG	0.473																																						uc003xsf.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)	2						c.(1396-1398)TTG>TTA		XK, Kell blood group complex subunit-related							118.0	113.0	115.0					8																	56436231		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56436231G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1398G>A	8.37:g.56436231G>A							p.L466L	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1430	+			466			Helical; (Potential).		Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.1398G>A	CCDS34893.1																																																																																				PASS	0.473	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		17	44	17	44	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57079013	57079013	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:57079013G>A	ENST00000316981.3	-	5	1771	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	PLAG1_ENST00000423799.2_Missense_Mutation_p.P349L|PLAG1_ENST00000429357.2_Missense_Mutation_p.P431L	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	431	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P431L(2)|p.P431H(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AGGATTATAGGGAGGACCATT	0.453			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	4	Substitution - Missense(4)		lung(4)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(1291-1293)CCC>CTC		pleiomorphic adenoma gene 1 isoform b							69.0	73.0	71.0					8																	57079013		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079013G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1292C>T	8.37:g.57079013G>A	ENSP00000325546:p.Pro431Leu					PLAG1_uc003xsr.3_Missense_Mutation_p.P431L|PLAG1_uc010lyi.2_Missense_Mutation_p.P431L|PLAG1_uc010lyj.2_Missense_Mutation_p.P349L	p.P431L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	1743	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	431			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1292C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296547	0.81025	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.15256	2.44;3.14;2.44	5.9	5.9	0.94986	.	0.123591	0.56097	D	0.000028	T	0.21801	0.0525	L	0.48642	1.525	0.80722	D	1	B	0.26635	0.155	B	0.26094	0.066	T	0.01753	-1.1281	10	0.66056	D	0.02	-9.2092	20.282	0.98514	0.0:0.0:1.0:0.0	.	431	Q6DJT9	PLAG1_HUMAN	L	431;349;431	ENSP00000325546:P431L;ENSP00000404067:P349L;ENSP00000416537:P431L	ENSP00000325546:P431L	P	-	2	0	PLAG1	57241567	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	7.527000	0.81931	2.786000	0.95864	0.563000	0.77884	CCC		PASS	0.453	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		41	64	41	64	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62430621	62430621	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:62430621G>A	ENST00000379454.4	-	23	2149	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	ASPH_ENST00000541428.1_Silent_p.F625F	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	654					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.F654F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TTGTCTCGGGGAACTTTTCTA	0.398																																						uc003xuj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1960-1962)TTC>TTT		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						209.0	206.0	207.0					8																	62430621		2203	4300	6503	SO:0001819	synonymous_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62430621G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1962C>T	8.37:g.62430621G>A						ASPH_uc011leg.1_Silent_p.F625F	p.F654F	NM_004318	NP_004309	Q12797	ASPH_HUMAN			23	2231	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	654			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	c.1962C>T	CCDS34898.1																																																																																				PASS	0.398	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		49	78	49	78	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62475376	62475376	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:62475376G>A	ENST00000379454.4	-	18	1551	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ASPH_ENST00000541428.1_Missense_Mutation_p.S426F	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	455					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.S455F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ATTTTTTAAGGAAGTATCATT	0.358																																						uc003xuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1363-1365)TCC>TTC		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						125.0	121.0	122.0					8																	62475376		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62475376G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1364C>T	8.37:g.62475376G>A	ENSP00000368767:p.Ser455Phe					ASPH_uc011leg.1_Missense_Mutation_p.S426F|ASPH_uc003xuo.2_Missense_Mutation_p.S436F	p.S455F	NM_004318	NP_004309	Q12797	ASPH_HUMAN			18	1633	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	455			TPR 2.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1364C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243219	0.39697	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.37752	1.18;1.18	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.344636	0.32357	N	0.006212	T	0.46386	0.1390	L	0.36672	1.1	0.80722	D	1	P;P	0.51240	0.938;0.943	P;P	0.53988	0.739;0.646	T	0.40384	-0.9566	10	0.66056	D	0.02	-6.8495	19.6695	0.95905	0.0:0.0:1.0:0.0	.	426;455	F5H667;Q12797	.;ASPH_HUMAN	F	426;455	ENSP00000437864:S426F;ENSP00000368767:S455F	ENSP00000368767:S455F	S	-	2	0	ASPH	62637930	1.000000	0.71417	0.330000	0.25442	0.574000	0.36063	5.446000	0.66600	2.701000	0.92244	0.650000	0.86243	TCC		PASS	0.358	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		25	63	25	63	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67047381	67047381	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:67047381G>A	ENST00000315962.4	+	3	871	c.498G>A	c.(496-498)caG>caA	p.Q166Q	TRIM55_ENST00000350034.4_Silent_p.Q166Q|TRIM55_ENST00000276573.7_Silent_p.Q166Q|TRIM55_ENST00000353317.5_Silent_p.Q166Q	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	166					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.Q166Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ATGTGTTCCAGAGACAGAAGG	0.592																																						uc003xvv.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(496-498)CAG>CAA		tripartite motif-containing 55 isoform 1							163.0	144.0	150.0					8																	67047381		2203	4300	6503	SO:0001819	synonymous_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047381G>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.498G>A	8.37:g.67047381G>A						TRIM55_uc003xvu.2_Silent_p.Q166Q|TRIM55_uc003xvw.2_Silent_p.Q166Q|TRIM55_uc003xvx.2_Silent_p.Q166Q	p.Q166Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	724	+		Lung NSC(129;0.138)|all_lung(136;0.221)	166					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	ENST00000315962.4	37	c.498G>A	CCDS6184.1																																																																																				PASS	0.592	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		21	52	21	52	---	---	---	---
TRIM55	84675	broad.mit.edu	37	8	67064761	67064761	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:67064761C>T	ENST00000315962.4	+	8	1508	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.L379F|TRIM55_ENST00000353317.5_Missense_Mutation_p.L379F	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	379					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.L379F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCTTCAGAGCTCTCTCAGGT	0.542																																						uc003xvv.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1135-1137)CTC>TTC		tripartite motif-containing 55 isoform 1							64.0	69.0	67.0					8																	67064761		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064761C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1135C>T	8.37:g.67064761C>T	ENSP00000323913:p.Leu379Phe					TRIM55_uc003xvu.2_Missense_Mutation_p.L379F|TRIM55_uc003xvw.2_Missense_Mutation_p.L379F|TRIM55_uc003xvx.2_Intron	p.L379F	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1361	+		Lung NSC(129;0.138)|all_lung(136;0.221)	379					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1135C>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051135	0.08243	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.28895	1.61;1.61;1.59	5.92	0.883	0.19177	.	0.942372	0.08983	N	0.865463	T	0.17492	0.0420	N	0.22421	0.69	0.09310	N	0.999998	B;P;P	0.42649	0.073;0.681;0.786	B;B;B	0.36959	0.051;0.123;0.237	T	0.13522	-1.0506	10	0.56958	D	0.05	.	4.1768	0.10356	0.3929:0.3869:0.0:0.2202	.	379;379;379	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	F	379	ENSP00000323913:L379F;ENSP00000297348:L379F;ENSP00000276573:L379F	ENSP00000276573:L379F	L	+	1	0	TRIM55	67227315	0.000000	0.05858	0.019000	0.16419	0.049000	0.14656	-0.881000	0.04179	-0.109000	0.12044	0.650000	0.86243	CTC		PASS	0.542	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		10	32	10	32	---	---	---	---
XKR9	389668	broad.mit.edu	37	8	71646348	71646348	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:71646348C>T	ENST00000408926.3	+	5	1345	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	XKR9_ENST00000520030.1_Missense_Mutation_p.L271F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	271						integral component of membrane (GO:0016021)		p.L271F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGGATTCATTCTTATCTTTAC	0.318																																						uc003xyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(811-813)CTT>TTT		XK, Kell blood group complex subunit-related							91.0	90.0	90.0					8																	71646348		2203	4299	6502	SO:0001583	missense	389668					integral to membrane		g.chr8:71646348C>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.811C>T	8.37:g.71646348C>T	ENSP00000386141:p.Leu271Phe					XKR9_uc010lze.2_Missense_Mutation_p.L271F|XKR9_uc010lzd.2_Missense_Mutation_p.L139F	p.L271F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1345	+	Breast(64;0.0716)		271			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.811C>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451887	0.63290	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.65916	-0.18;-0.18	4.79	3.91	0.45181	.	0.132494	0.50627	N	0.000115	T	0.76176	0.3951	M	0.81497	2.545	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.74420	-0.3671	10	0.27082	T	0.32	-7.2167	10.1361	0.42708	0.0:0.7871:0.1369:0.076	.	271	Q5GH70	XKR9_HUMAN	F	271	ENSP00000386141:L271F;ENSP00000431088:L271F	ENSP00000386141:L271F	L	+	1	0	XKR9	71808902	1.000000	0.71417	0.708000	0.30435	0.988000	0.76386	4.150000	0.58098	1.242000	0.43836	0.563000	0.77884	CTT		PASS	0.318	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		9	27	9	27	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72935239	72935239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:72935239G>A	ENST00000262209.4	-	27	3469	c.3262C>T	c.(3262-3264)Caa>Taa	p.Q1088*	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1088					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.Q1088*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AACCTGTCTTGAAAAGAACAA	0.403																																						uc003xza.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(3262-3264)CAA>TAA		ankyrin-like protein 1	Menthol(DB00825)						249.0	216.0	227.0					8																	72935239		2203	4300	6503	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72935239G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3262C>T	8.37:g.72935239G>A	ENSP00000262209:p.Gln1088*					uc011lff.1_Intron|uc003xyy.2_Intron	p.Q1088*	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		27	3437	-			1088			Cytoplasmic (Potential).		A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.3262C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	43	10.321431	0.99382	.	.	ENSG00000104321	ENST00000262209	.	.	.	5.72	5.72	0.89469	.	0.113338	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.2593	19.4904	0.95048	0.0:0.0:1.0:0.0	.	.	.	.	X	1088	.	ENSP00000262209:Q1088X	Q	-	1	0	TRPA1	73097793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.539000	0.82063	2.708000	0.92522	0.561000	0.74099	CAA		PASS	0.403	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		18	36	18	36	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480246	73480246	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:73480246C>T	ENST00000523207.1	+	2	865	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	93					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P93S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGATCGGCATCCAGGAGCCTT	0.478																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(277-279)CCA>TCA		potassium voltage-gated channel, Shab-related							82.0	82.0	82.0					8																	73480246		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480246C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.277C>T	8.37:g.73480246C>T	ENSP00000430846:p.Pro93Ser						p.P93S	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	865	+	Breast(64;0.137)		93			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.277C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146488	0.77888	.	.	ENSG00000182674	ENST00000523207	T	0.78707	-1.2	5.93	5.06	0.68205	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.605785	0.12701	N	0.446358	D	0.89114	0.6623	M	0.82323	2.585	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.88546	0.3113	10	0.87932	D	0	.	14.6648	0.68899	0.0:0.93:0.0:0.07	.	93	Q92953	KCNB2_HUMAN	S	93	ENSP00000430846:P93S	ENSP00000430846:P93S	P	+	1	0	KCNB2	73642800	1.000000	0.71417	0.299000	0.25016	0.984000	0.73092	7.818000	0.86416	1.518000	0.48934	0.655000	0.94253	CCA		PASS	0.478	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		21	40	21	40	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849725	73849725	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:73849725C>T	ENST00000523207.1	+	3	2723	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	712					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S712C(1)|p.S712F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCACTAAAGTCCAGATCCCTC	0.537																																						uc003xzb.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(2134-2136)TCC>TTC		potassium voltage-gated channel, Shab-related							77.0	80.0	79.0					8																	73849725		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849725C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2135C>T	8.37:g.73849725C>T	ENSP00000430846:p.Ser712Phe						p.S712F	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2723	+	Breast(64;0.137)		712			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2135C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280649	0.59758	.	.	ENSG00000182674	ENST00000523207	T	0.26223	1.75	5.04	5.04	0.67666	.	0.373546	0.19619	N	0.109947	T	0.42585	0.1209	L	0.48642	1.525	0.49915	D	0.999837	D	0.58970	0.984	P	0.60286	0.872	T	0.09885	-1.0654	10	0.41790	T	0.15	.	18.5564	0.91086	0.0:1.0:0.0:0.0	.	712	Q92953	KCNB2_HUMAN	F	712	ENSP00000430846:S712F	ENSP00000430846:S712F	S	+	2	0	KCNB2	74012279	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.008000	0.57103	2.602000	0.87976	0.591000	0.81541	TCC		PASS	0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		44	54	44	54	---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75227317	75227317	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:75227317C>T	ENST00000342232.4	-	2	958	c.918G>A	c.(916-918)ggG>ggA	p.G306G		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	306					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G306G(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGCCCACTCCCCTTCATACT	0.517																																						uc003yae.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(916-918)GGG>GGA		junctophilin 1							133.0	130.0	131.0					8																	75227317		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227317C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.918G>A	8.37:g.75227317C>T						JPH1_uc003yaf.2_Silent_p.G306G|JPH1_uc003yag.1_Silent_p.G170G	p.G306G	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	958	-	Breast(64;0.00576)		306			Cytoplasmic (Potential).|MORN 7.		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.918G>A	CCDS6217.1																																																																																				PASS	0.517	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			32	57	32	57	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75737547	75737547	+	Silent	SNP	C	C	A	rs146928869		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:75737547C>A	ENST00000260113.2	+	2	242	c.63C>A	c.(61-63)acC>acA	p.T21T	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.T21T	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	21						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.T21T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAGCAAGTACCGTCGTCCTAC	0.478																																						uc003yal.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(61-63)ACC>ACA		protease inhibitor 15 preproprotein							207.0	200.0	202.0					8																	75737547		2203	4300	6503	SO:0001819	synonymous_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737547C>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.63C>A	8.37:g.75737547C>A						uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.T21T	p.T21T	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	242	+	Breast(64;0.137)		21					Q68CY1	Silent	SNP	ENST00000260113.2	37	c.63C>A	CCDS6218.1																																																																																				PASS	0.478	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		6	200	6	200	---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75925135	75925135	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:75925135C>T	ENST00000262207.4	+	4	856	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	130	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.P130S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATATAGGCCCCCGACGTTTCA	0.378																																						uc003yan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(388-390)CCG>TCG		cysteine-rich secretory protein LCCL domain							97.0	93.0	95.0					8																	75925135		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75925135C>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.388C>T	8.37:g.75925135C>T	ENSP00000262207:p.Pro130Ser					CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR	p.P130S	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		4	763	+	Breast(64;0.0799)		130					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.388C>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872987	0.72180	.	.	ENSG00000121005	ENST00000262207	T	0.09911	2.93	5.24	5.24	0.73138	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	M	0.64630	1.985	0.80722	D	1	B	0.32507	0.373	B	0.32289	0.143	T	0.01824	-1.1266	10	0.36615	T	0.2	.	13.3134	0.60393	0.0:0.9246:0.0:0.0754	.	130	Q9H336	CRLD1_HUMAN	S	130	ENSP00000262207:P130S	ENSP00000262207:P130S	P	+	1	0	CRISPLD1	76087690	1.000000	0.71417	0.999000	0.59377	0.642000	0.38348	5.817000	0.69229	2.733000	0.93635	0.557000	0.71058	CCG		PASS	0.378	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		9	26	9	26	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618373	77618373	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77618373C>T	ENST00000521891.2	+	2	2498	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P684S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P684S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P684S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	684					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.P684S(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)			ACAGCCTCACCCCAGGCTTGC	0.512										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2050-2052)CCC>TCC		zinc finger homeodomain 4							44.0	48.0	47.0					8																	77618373		2091	4250	6341	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618373C>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.2050C>T	8.37:g.77618373C>T	ENSP00000430497:p.Pro684Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.P684S|ZFHX4_uc003yau.1_Missense_Mutation_p.P684S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P684S	p.P684S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2437	+			684					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2050C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987315	0.53934	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55234	0.6;0.57;0.55;0.53	5.0	5.0	0.66597	.	0.000000	0.44285	U	0.000473	T	0.74374	0.3708	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.998;1.0	T	0.76932	-0.2776	10	0.66056	D	0.02	.	18.85	0.92224	0.0:1.0:0.0:0.0	.	684;684;684;684	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	684	ENSP00000430497:P684S;ENSP00000399605:P684S;ENSP00000050961:P684S;ENSP00000430848:P684S	ENSP00000050961:P684S	P	+	1	0	ZFHX4	77780928	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.750000	0.94351	0.655000	0.94253	CCC		PASS	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	27	21	27	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618472	77618472	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77618472C>T	ENST00000521891.2	+	2	2597	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H717Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H717Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H717Y|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	717					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.H717Y(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)			CCTCAGTATTCATATGCAGTC	0.522										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2149-2151)CAT>TAT		zinc finger homeodomain 4							65.0	68.0	67.0					8																	77618472		2198	4298	6496	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618472C>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.2149C>T	8.37:g.77618472C>T	ENSP00000430497:p.His717Tyr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.H717Y|ZFHX4_uc003yau.1_Missense_Mutation_p.H717Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H717Y	p.H717Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2536	+			717			C2H2-type 3.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2149C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380818	0.42207	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.99964	-9.97;-9.97;-9.97;-9.97	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	U	0.000321	D	0.99975	0.9992	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;D;D;D	0.91635	0.996;0.994;0.994;0.999	D	0.96623	0.9461	10	0.87932	D	0	.	18.8304	0.92137	0.0:1.0:0.0:0.0	.	717;717;717;717	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Y	717	ENSP00000430497:H717Y;ENSP00000399605:H717Y;ENSP00000050961:H717Y;ENSP00000430848:H717Y	ENSP00000050961:H717Y	H	+	1	0	ZFHX4	77781027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.746000	0.94184	0.650000	0.86243	CAT		PASS	0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	40	10	40	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767134	77767134	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77767134G>A	ENST00000521891.2	+	10	8425	c.7977G>A	c.(7975-7977)cgG>cgA	p.R2659R	ZFHX4_ENST00000518282.1_Silent_p.R2633R|ZFHX4_ENST00000050961.6_Silent_p.R2614R|ZFHX4_ENST00000455469.2_Silent_p.R2614R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2614					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.R2643R(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)			CACGAGCGCGGGAGAGGAAAG	0.527										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7840-7842)CGG>CGA		zinc finger homeodomain 4							56.0	58.0	57.0					8																	77767134		1899	4140	6039	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767134G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7977G>A	8.37:g.77767134G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.R2659R|ZFHX4_uc003yaw.1_Silent_p.R2614R	p.R2614R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8229	+			2614			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7842G>A	CCDS47878.2																																																																																				PASS	0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		25	45	25	45	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767159	77767159	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77767159G>A	ENST00000521891.2	+	10	8450	c.8002G>A	c.(8002-8004)Gtg>Atg	p.V2668M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2642M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2623M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2623M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2623					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.V2652M(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)			GTTCCGGGCGGTGGGTCCAGC	0.547										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7867-7869)GTG>ATG		zinc finger homeodomain 4							58.0	59.0	59.0					8																	77767159		1928	4150	6078	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767159G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8002G>A	8.37:g.77767159G>A	ENSP00000430497:p.Val2668Met	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.V2668M|ZFHX4_uc003yaw.1_Missense_Mutation_p.V2623M	p.V2623M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8254	+			2623					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7867G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364407	0.24684	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.68;0.64;0.63	5.12	5.12	0.69794	Homeodomain-related (1);	0.000000	0.40064	U	0.001195	T	0.47040	0.1424	N	0.17082	0.46	0.43271	D	0.99522	P;D;D	0.53885	0.936;0.962;0.963	P;P;P	0.58013	0.682;0.831;0.831	T	0.42032	-0.9475	10	0.41790	T	0.15	.	13.6727	0.62436	0.0:0.0:0.8456:0.1544	.	2623;2623;2668	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	M	2668;2652;2623;2623;2642	ENSP00000430497:V2668M;ENSP00000399605:V2623M;ENSP00000050961:V2623M;ENSP00000430848:V2642M	ENSP00000050961:V2623M	V	+	1	0	ZFHX4	77929714	1.000000	0.71417	0.949000	0.38748	0.253000	0.25986	5.140000	0.64807	2.659000	0.90383	0.555000	0.69702	GTG		PASS	0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		26	40	26	40	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775467	77775467	+	Missense_Mutation	SNP	C	C	T	rs560723877		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77775467C>T	ENST00000521891.2	+	11	9965	c.9517C>T	c.(9517-9519)Cct>Tct	p.P3173S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3147S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3124S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3128S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					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.P3157S(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)			tcctcctcctccttcatcctc	0.507										HNSCC(33;0.089)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		15937	0.0		0.0	False		,,,				2504	0.0					uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9382-9384)CCT>TCT		zinc finger homeodomain 4							44.0	45.0	45.0					8																	77775467		2031	4207	6238	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775467C>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.9517C>T	8.37:g.77775467C>T	ENSP00000430497:p.Pro3173Ser	HNSCC(33;0.089)					p.P3128S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9769	+			3124			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9382C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630449	0.28978	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.74;0.78;0.72;0.7	4.61	2.75	0.32379	.	0.185939	0.25762	N	0.028462	T	0.29850	0.0746	L	0.35723	1.085	0.31669	N	0.644568	B	0.06786	0.001	B	0.08055	0.003	T	0.22347	-1.0219	10	0.13470	T	0.59	.	5.0373	0.14441	0.1544:0.6177:0.1487:0.0793	.	3128	Q86UP3-4	.	S	3173;3157;3128;3124;3147	ENSP00000430497:P3173S;ENSP00000399605:P3128S;ENSP00000050961:P3124S;ENSP00000430848:P3147S	ENSP00000050961:P3124S	P	+	1	0	ZFHX4	77938022	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.437000	0.34991	0.633000	0.30452	0.561000	0.74099	CCT		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	21	9	21	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775587	77775587	+	Missense_Mutation	SNP	G	G	A	rs536201184		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:77775587G>A	ENST00000521891.2	+	11	10085	c.9637G>A	c.(9637-9639)Gaa>Aaa	p.E3213K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3187K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3164K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3168K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3164					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.E3197K(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)			CACCAAACCCGAAAAACACCC	0.413										HNSCC(33;0.089)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		19954	0.0		0.0	False		,,,				2504	0.0					uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9502-9504)GAA>AAA		zinc finger homeodomain 4							114.0	111.0	112.0					8																	77775587		1862	4105	5967	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775587G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9637G>A	8.37:g.77775587G>A	ENSP00000430497:p.Glu3213Lys	HNSCC(33;0.089)					p.E3168K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9889	+			3164					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9502G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371192	0.42003	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.65;0.69;0.67;0.64	4.71	4.71	0.59529	.	0.000000	0.43579	U	0.000553	T	0.55401	0.1918	L	0.55481	1.735	0.44880	D	0.997897	D	0.65815	0.995	P	0.51974	0.686	T	0.53049	-0.8493	10	0.33940	T	0.23	.	18.2095	0.89865	0.0:0.0:1.0:0.0	.	3168	Q86UP3-4	.	K	3213;3197;3168;3164;3187	ENSP00000430497:E3213K;ENSP00000399605:E3168K;ENSP00000050961:E3164K;ENSP00000430848:E3187K	ENSP00000050961:E3164K	E	+	1	0	ZFHX4	77938142	0.993000	0.37304	0.830000	0.32933	0.707000	0.40811	2.143000	0.42187	2.601000	0.87937	0.561000	0.74099	GAA		PASS	0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	76	46	76	---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81431659	81431659	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:81431659G>A	ENST00000430430.1	+	7	3291	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	ZBTB10_ENST00000455036.3_Missense_Mutation_p.E838K|ZBTB10_ENST00000379091.4_Missense_Mutation_p.E546K|ZBTB10_ENST00000426744.2_Missense_Mutation_p.E814K	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	838					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.E814K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CGAGGAGAATGAAGTAGGAGA	0.448																																						uc003ybx.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2512-2514)GAA>AAA		zinc finger and BTB domain containing 10 isoform							80.0	80.0	80.0					8																	81431659		1937	4138	6075	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431659G>A	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2512G>A	8.37:g.81431659G>A	ENSP00000387462:p.Glu838Lys					ZBTB10_uc003ybv.3_Missense_Mutation_p.E546K|ZBTB10_uc003ybw.3_Missense_Mutation_p.E814K|ZBTB10_uc010lzt.2_Missense_Mutation_p.E836K	p.E838K	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		6	3110	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		838					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.2512G>A	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016494	0.75161	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T	0.10960	2.85;2.82	5.43	5.43	0.79202	.	0.166139	0.41823	D	0.000801	T	0.12008	0.0292	L	0.27053	0.805	0.58432	D	0.999996	B;B;B;P	0.38827	0.058;0.058;0.096;0.649	B;B;B;P	0.45377	0.046;0.046;0.1;0.478	T	0.03587	-1.1022	10	0.06365	T	0.9	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	692;838;814;546	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	K	546;838;814;838;664	ENSP00000368384:E546K;ENSP00000387462:E838K	ENSP00000368384:E546K	E	+	1	0	ZBTB10	81594214	1.000000	0.71417	0.969000	0.41365	0.985000	0.73830	7.461000	0.80834	2.549000	0.85964	0.591000	0.81541	GAA		PASS	0.448	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		11	18	11	18	---	---	---	---
CA13	377677	broad.mit.edu	37	8	86163132	86163132	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:86163132C>T	ENST00000321764.3	+	2	503	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CA13_ENST00000517298.1_3'UTR|RP11-219B4.6_ENST00000551479.1_5'Flank	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	67					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.F67F(2)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GCCATTCCTTCAATGTTGACT	0.398																																						uc003ydg.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(199-201)TTC>TTT		carbonic anhydrase XIII							171.0	171.0	171.0					8																	86163132		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86163132C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.201C>T	8.37:g.86163132C>T						CA13_uc003ydf.1_RNA	p.F67F	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN			2	543	+			67						Silent	SNP	ENST00000321764.3	37	c.201C>T	CCDS6236.1																																																																																				PASS	0.398	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		58	105	58	105	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87230033	87230033	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:87230033C>T	ENST00000297524.3	-	3	948	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R273Q|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	282						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.R282Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGGAAAAGCTCGATCAGCCCA	0.308																																						uc003ydq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(844-846)CGA>CAA		solute carrier family 7, (cationic amino acid							51.0	58.0	56.0					8																	87230033		2200	4297	6497	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87230033C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.845G>A	8.37:g.87230033C>T	ENSP00000297524:p.Arg282Gln					SLC7A13_uc003ydr.1_Missense_Mutation_p.R273Q	p.R282Q	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	943	-			282			Extracellular (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.845G>A	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847183	0.51164	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89746	-2.56;-2.56	4.35	1.42	0.22433	Amino acid permease domain (1);	0.185926	0.35525	N	0.003144	D	0.89273	0.6668	L	0.61387	1.9	0.09310	N	1	P;D	0.69078	0.945;0.997	B;P	0.57960	0.422;0.83	T	0.79997	-0.1567	10	0.36615	T	0.2	.	5.9781	0.19391	0.1522:0.6702:0.0:0.1776	.	273;282	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	Q	282;273	ENSP00000297524:R282Q;ENSP00000410982:R273Q	ENSP00000297524:R282Q	R	-	2	0	SLC7A13	87299149	0.060000	0.20803	0.000000	0.03702	0.017000	0.09413	0.208000	0.17415	0.149000	0.19098	0.655000	0.94253	CGA		PASS	0.308	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		18	62	18	62	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87591016	87591016	+	Silent	SNP	C	C	T	rs142347723		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:87591016C>T	ENST00000320005.5	-	17	2051	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	668					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.P668P(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCTTCTTTCGGTGGGAAGA	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17870	0.0		0.0	False		,,,				2504	0.0					uc003ydx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2002-2004)CCG>CCA		cyclic nucleotide gated channel beta 3		C		1,4405	2.1+/-5.4	0,1,2202	132.0	130.0	131.0		2004	-10.6	0.0	8	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	CNGB3	NM_019098.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		668/810	87591016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87591016C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2004G>A	8.37:g.87591016C>T						CNGB3_uc010maj.2_Silent_p.P525P	p.P668P	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			17	2050	-			668			Cytoplasmic (Potential).|cGMP (By similarity).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.2004G>A	CCDS6244.1																																																																																				PASS	0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		23	54	23	54	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88249162	88249162	+	Missense_Mutation	SNP	G	G	A	rs373039361		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:88249162G>A	ENST00000518476.1	+	6	644	c.593G>A	c.(592-594)gGa>gAa	p.G198E	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	198								p.G198E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCAAATGATGGATTTTATGTA	0.348																																						uc003ydy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(592-594)GGA>GAA		cyclic nucleotide binding domain containing 1		G	GLU/GLY	1,3631		0,1,1815	150.0	131.0	137.0		593	4.3	1.0	8		137	0,8158		0,0,4079	no	missense	CNBD1	NM_173538.2	98	0,1,5894	AA,AG,GG		0.0,0.0275,0.0085	probably-damaging	198/437	88249162	1,11789	1816	4079	5895	SO:0001583	missense	168975							g.chr8:88249162G>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.593G>A	8.37:g.88249162G>A	ENSP00000430073:p.Gly198Glu						p.G198E	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			6	641	+			198						Missense_Mutation	SNP	ENST00000518476.1	37	c.593G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152164	0.57259	2.75E-4	0.0	ENSG00000176571	ENST00000518476	D	0.96522	-4.04	4.29	4.29	0.51040	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.44285	D	0.000462	D	0.97250	0.9101	M	0.63843	1.955	0.30192	N	0.799435	D	0.89917	1.0	D	0.91635	0.999	D	0.94096	0.7357	10	0.72032	D	0.01	-24.9045	12.5552	0.56250	0.0:0.0:1.0:0.0	.	198	Q8NA66	CNBD1_HUMAN	E	198	ENSP00000430073:G198E	ENSP00000430073:G198E	G	+	2	0	CNBD1	88318278	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.939000	0.56591	2.665000	0.90641	0.655000	0.94253	GGA		PASS	0.348	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		48	64	48	64	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885348	88885348	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:88885348G>A	ENST00000319675.3	-	1	948	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	284								p.F284F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATGACACCAGGAATTGGCCAT	0.498																																						uc003ydz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(850-852)TTC>TTT		WD repeat domain 21C							98.0	89.0	92.0					8																	88885348		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885348G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.852C>T	8.37:g.88885348G>A							p.F284F	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	949	-			284			WD 1.			Silent	SNP	ENST00000319675.3	37	c.852C>T	CCDS6245.1																																																																																				PASS	0.498	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		25	35	25	35	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92972741	92972741	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:92972741C>A	ENST00000523629.1	-	12	1998	c.1544G>T	c.(1543-1545)tGc>tTc	p.C515F	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.C478F|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.C478F|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.C515F|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.C488F|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.C488F|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.C526F|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.C478F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	515					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C478F(1)|p.C515F(1)|p.C526F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACAATTCCAGCAACTCTAAAG	0.443																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1543-1545)TGC>TTC		acute myelogenous leukemia 1 translocation 1							54.0	53.0	53.0					8																	92972741		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972741C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1544G>T	8.37:g.92972741C>A	ENSP00000428543:p.Cys515Phe					RUNX1T1_uc003yfc.1_Missense_Mutation_p.C488F|RUNX1T1_uc003yfe.1_Missense_Mutation_p.C478F|RUNX1T1_uc010mao.2_Missense_Mutation_p.C488F|RUNX1T1_uc011lgi.1_Missense_Mutation_p.C526F|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.C140F|RUNX1T1_uc003yfb.1_Missense_Mutation_p.C478F	p.C515F	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1628	-			515			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1544G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948322	0.73787	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	6.06	6.06	0.98353	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.80497	0.4634	H	0.98446	4.235	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.993;0.999;0.998;1.0	D	0.87050	0.2146	10	0.87932	D	0	-15.4291	20.6208	0.99490	0.0:1.0:0.0:0.0	.	526;478;515;488	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	F	515;488;515;478;478;478;526;488	ENSP00000428543:C515F;ENSP00000379520:C488F;ENSP00000265814:C515F;ENSP00000353504:C478F;ENSP00000390137:C478F;ENSP00000428742:C478F;ENSP00000402257:C526F;ENSP00000430728:C488F	ENSP00000265814:C515F	C	-	2	0	RUNX1T1	93041917	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	TGC		PASS	0.443	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		11	40	11	40	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998451	92998451	+	Missense_Mutation	SNP	G	G	A	rs200248598		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:92998451G>A	ENST00000523629.1	-	9	1634	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R357W|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R357W|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R394W|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R367W|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R367W|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R405W|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R357W	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	394					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R357W(1)|p.R405W(1)|p.R394W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGTACCGCCGGATCCAGTAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		14722	0.0		0.001	False		,,,				2504	0.0					uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1180-1182)CGG>TGG		acute myelogenous leukemia 1 translocation 1							119.0	120.0	120.0					8																	92998451		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998451G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1180C>T	8.37:g.92998451G>A	ENSP00000428543:p.Arg394Trp					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R367W|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R357W|RUNX1T1_uc010mao.2_Missense_Mutation_p.R367W|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R405W|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R357W	p.R394W	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1264	-			394					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1180C>T	CCDS6256.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.1	4.978612	0.92982	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.996	T	0.79711	-0.1689	10	0.87932	D	0	-16.5075	14.5933	0.68386	0.0:0.0:0.8542:0.1458	.	405;394;367	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	W	394;367;394;357;357;357;405;367	ENSP00000428543:R394W;ENSP00000379520:R367W;ENSP00000265814:R394W;ENSP00000353504:R357W;ENSP00000390137:R357W;ENSP00000428742:R357W;ENSP00000402257:R405W;ENSP00000430728:R367W	ENSP00000265814:R394W	R	-	1	2	RUNX1T1	93067627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.515000	0.60489	2.677000	0.91161	0.655000	0.94253	CGG		PASS	0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		35	38	35	38	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017356	93017356	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:93017356C>T	ENST00000523629.1	-	6	1182	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R243Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R216Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R254Q|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R206Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R206Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	243					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R206Q(1)|p.R254Q(1)|p.R243L(1)|p.R243Q(1)|p.R254L(1)|p.R206L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCTGGAGTTCGCCTCTTCCC	0.522																																						uc003yfd.2																			6	Substitution - Missense(6)		lung(6)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(727-729)CGA>CAA		acute myelogenous leukemia 1 translocation 1							175.0	160.0	165.0					8																	93017356		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017356C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.728G>A	8.37:g.93017356C>T	ENSP00000428543:p.Arg243Gln					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R206Q|RUNX1T1_uc010mao.2_Missense_Mutation_p.R216Q|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R254Q|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R206Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q	p.R243Q	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		5	812	-			243					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.728G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535533	0.96460	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553	T;T;T;T;T;T;T;T;T	0.46819	1.37;1.38;1.37;1.39;1.39;1.39;1.36;1.38;0.86	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.76574	2.34	0.80722	D	1	B;P;D	0.62365	0.403;0.812;0.991	B;B;P	0.54544	0.062;0.072;0.755	T	0.67444	-0.5669	10	0.59425	D	0.04	-7.4492	19.7501	0.96265	0.0:1.0:0.0:0.0	.	254;243;216	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	Q	243;216;243;206;206;206;254;216;206	ENSP00000428543:R243Q;ENSP00000379520:R216Q;ENSP00000265814:R243Q;ENSP00000353504:R206Q;ENSP00000390137:R206Q;ENSP00000428742:R206Q;ENSP00000402257:R254Q;ENSP00000430728:R216Q;ENSP00000429728:R206Q	ENSP00000265814:R243Q	R	-	2	0	RUNX1T1	93086532	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.086000	0.71352	2.672000	0.90937	0.655000	0.94253	CGA		PASS	0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		36	50	36	50	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95539319	95539319	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:95539319A>G	ENST00000297591.5	-	8	1228	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	KIAA1429_ENST00000421249.2_Silent_p.L385L|KIAA1429_ENST00000437199.1_Silent_p.L385L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	385					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L385L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTTCTGTTAACTTCACTGAG	0.343																																						uc003ygo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1153-1155)TTA>CTA		hypothetical protein LOC25962 isoform 1							140.0	145.0	144.0					8																	95539319		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539319A>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1153T>C	8.37:g.95539319A>G						KIAA1429_uc003ygp.2_Silent_p.L385L|KIAA1429_uc010maz.1_RNA	p.L385L	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1166	-	Breast(36;3.29e-05)		385					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.1153T>C	CCDS34923.1																																																																																				PASS	0.343	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		54	82	54	82	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	98943539	98943539	+	Silent	SNP	C	C	T	rs568739962	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:98943539C>T	ENST00000520016.1	+	2	625	c.501C>T	c.(499-501)atC>atT	p.I167I	MATN2_ENST00000524308.1_Silent_p.I167I|MATN2_ENST00000254898.5_Silent_p.I167I|MATN2_ENST00000521689.1_Silent_p.I167I|MATN2_ENST00000522025.2_Intron			O00339	MATN2_HUMAN	matrilin 2	167	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.I167I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCATAATGATCGTGACAGATG	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		21276	0.0		0.0	False		,,,				2504	0.0041					uc003yic.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(499-501)ATC>ATT		matrilin 2 isoform a precursor							38.0	44.0	42.0					8																	98943539		2090	4229	6319	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943539C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.501C>T	8.37:g.98943539C>T						MATN2_uc003yib.1_Silent_p.I167I|MATN2_uc010mbh.1_Silent_p.I167I|MATN2_uc003yid.2_Silent_p.I167I|MATN2_uc003yie.1_Silent_p.I167I|MATN2_uc010mbi.1_Silent_p.I41I	p.I167I	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	732	+	Breast(36;1.43e-06)		167			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.501C>T	CCDS55264.1																																																																																				PASS	0.597	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			8	20	8	20	---	---	---	---
ERICH5	203111	broad.mit.edu	37	8	99101751	99101751	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:99101751C>T	ENST00000318528.3	+	2	865	c.506C>T	c.(505-507)tCt>tTt	p.S169F	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		169								p.S169F(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGAAGGACTCTCTCAGAGCA	0.517																																						uc003yih.1																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)TCT>TTT		hypothetical protein LOC203111							52.0	51.0	51.0					8																	99101751		2203	4300	6503	SO:0001583	missense	203111							g.chr8:99101751C>T																												ENST00000318528.3:c.506C>T	8.37:g.99101751C>T	ENSP00000315614:p.Ser169Phe						p.S169F	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.214)		2	654	+	Breast(36;2.31e-06)		169					G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	c.506C>T	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532567	0.27387	.	.	ENSG00000177459	ENST00000318528	T	0.55052	0.54	5.1	3.31	0.37934	.	0.699813	0.13121	N	0.412193	T	0.47469	0.1447	L	0.60455	1.87	0.09310	N	0.999999	B	0.22683	0.073	B	0.23716	0.048	T	0.45731	-0.9241	10	0.59425	D	0.04	-4.69	6.9593	0.24587	0.0:0.7335:0.1746:0.0919	.	169	Q6P6B1	CH047_HUMAN	F	169	ENSP00000315614:S169F	ENSP00000315614:S169F	S	+	2	0	C8orf47	99170927	0.054000	0.20591	0.000000	0.03702	0.002000	0.02628	1.288000	0.33296	0.727000	0.32360	0.655000	0.94253	TCT		PASS	0.517	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			26	24	26	24	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100830947	100830947	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:100830947T>C	ENST00000358544.2	+	47	8638	c.8527T>C	c.(8527-8529)Ttc>Ctc	p.F2843L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.F2818L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2843					protein transport (GO:0015031)			p.F2843L(1)|p.F2818L(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)			ATAGATTGTGTTCAGCCCTCT	0.353																																					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.(8527-8529)TTC>CTC		vacuolar protein sorting 13B isoform 5							116.0	119.0	118.0					8																	100830947		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100830947T>C	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.8527T>C	8.37:g.100830947T>C	ENSP00000351346:p.Phe2843Leu					VPS13B_uc003yiw.2_Missense_Mutation_p.F2818L	p.F2843L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		47	8638	+	Breast(36;3.73e-07)		2843					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8527T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048731	0.36181	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66995	-0.24;-0.24	5.53	5.53	0.82687	.	0.056860	0.64402	D	0.000001	T	0.63522	0.2518	N	0.11201	0.11	0.80722	D	1	P;D	0.69078	0.734;0.997	B;D	0.70716	0.391;0.97	T	0.60026	-0.7343	10	0.08599	T	0.76	.	15.6553	0.77129	0.0:0.0:0.0:1.0	.	2818;2843	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	2818;2843	ENSP00000349685:F2818L;ENSP00000351346:F2843L	ENSP00000349685:F2818L	F	+	1	0	VPS13B	100900123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.112000	0.64535	0.454000	0.30748	TTC		PASS	0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		37	102	37	102	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102555584	102555584	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:102555584G>A	ENST00000251808.3	+	2	474	c.136G>A	c.(136-138)Gca>Aca	p.A46T	GRHL2_ENST00000395927.1_Missense_Mutation_p.A30T	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	46	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A46T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCCCCTGACAGCAGCCACCAA	0.552																																						uc010mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(136-138)GCA>ACA		transcription factor CP2-like 3							122.0	120.0	120.0					8																	102555584		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102555584G>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.136G>A	8.37:g.102555584G>A	ENSP00000251808:p.Ala46Thr					GRHL2_uc010mbt.1_Missense_Mutation_p.A46T|GRHL2_uc011lhi.1_Missense_Mutation_p.A46T	p.A46T	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		2	466	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		46			Transcription activation.		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.136G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228611	0.95173	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.58358	0.34;0.34	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.996	T	0.78089	-0.2340	10	0.87932	D	0	-24.238	20.1496	0.98084	0.0:0.0:1.0:0.0	.	46;46;46	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	T	46;30;46	ENSP00000251808:A46T;ENSP00000379260:A30T	ENSP00000251808:A46T	A	+	1	0	GRHL2	102624760	1.000000	0.71417	0.688000	0.30117	0.625000	0.37756	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GCA		PASS	0.552	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		26	69	26	69	---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102701575	102701575	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:102701575G>A	ENST00000311028.3	-	7	922	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	NCALD_ENST00000521599.1_Missense_Mutation_p.L182F|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000395923.1_Missense_Mutation_p.L182F|NCALD_ENST00000220931.6_Missense_Mutation_p.L182F|NCALD_ENST00000519508.2_Missense_Mutation_p.L182F|KB-1107E3.1_ENST00000518749.1_RNA	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	182					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)	p.L182F(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CACTGCAGGAGGCGCACAATG	0.557																																						uc003yke.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CTC>TTC		neurocalcin delta							51.0	46.0	48.0					8																	102701575		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102701575G>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.544C>T	8.37:g.102701575G>A	ENSP00000310587:p.Leu182Phe					NCALD_uc003ykf.2_Missense_Mutation_p.L182F|NCALD_uc003ykg.2_Missense_Mutation_p.L182F|NCALD_uc003ykh.2_Missense_Mutation_p.L182F|NCALD_uc003yki.2_Missense_Mutation_p.L182F|NCALD_uc003ykj.2_Missense_Mutation_p.L182F|NCALD_uc003ykk.2_Missense_Mutation_p.L182F|NCALD_uc003ykl.2_Missense_Mutation_p.L182F	p.L182F	NM_032041	NP_114430	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	913	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		182					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.544C>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858033	0.91433	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.6	4.72	0.59763	EF-hand-like domain (1);	.	.	.	.	T	0.80939	0.4720	M	0.82823	2.61	0.80722	D	1	D	0.67145	0.996	P	0.62491	0.903	D	0.84027	0.0357	9	0.62326	D	0.03	.	14.5436	0.68013	0.0704:0.0:0.9296:0.0	.	182	P61601	NCALD_HUMAN	F	182	ENSP00000379256:L182F;ENSP00000310587:L182F;ENSP00000220931:L182F;ENSP00000428105:L182F;ENSP00000430476:L182F	ENSP00000220931:L182F	L	-	1	0	NCALD	102770751	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.807000	0.99171	1.502000	0.48669	0.655000	0.94253	CTC		PASS	0.557	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			5	7	5	7	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104898040	104898040	+	Missense_Mutation	SNP	G	G	A	rs200980523|rs386728430		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:104898040G>A	ENST00000436393.2	+	2	788	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RIMS2_ENST00000406091.3_Missense_Mutation_p.E405K|RIMS2_ENST00000507740.1_Missense_Mutation_p.E213K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E213K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	436	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.E213K(2)|p.E441K(1)|p.E405K(1)|p.E183K(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTGCCATGGAAAATCAGCG	0.453										HNSCC(12;0.0054)																												uc003yls.2																			5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(547-549)GAA>AAA		regulating synaptic membrane exocytosis 2							70.0	67.0	68.0					8																	104898040		1915	4124	6039	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898040G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.547G>A	8.37:g.104898040G>A	ENSP00000390665:p.Glu183Lys	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.E405K|RIMS2_uc003ylw.2_Missense_Mutation_p.E213K|RIMS2_uc003ylq.2_Missense_Mutation_p.E213K|RIMS2_uc003ylr.2_Missense_Mutation_p.E213K	p.E183K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	788	+			436					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.971234	0.74246	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.65	5.65	0.86999	.	.	.	.	.	T	0.49660	0.1570	L	0.50333	1.59	0.80722	D	1	P;P;P;D;D	0.63880	0.61;0.764;0.746;0.993;0.959	B;B;P;P;P	0.53593	0.277;0.257;0.548;0.73;0.501	T	0.49031	-0.8981	9	0.72032	D	0.01	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	436;183;213;213;405	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	405;436;405;436;213;213;213;213;183	ENSP00000427018:E405K;ENSP00000384892:E405K;ENSP00000425205:E213K;ENSP00000262231:E213K;ENSP00000423559:E213K;ENSP00000386228:E213K;ENSP00000390665:E183K	ENSP00000262231:E213K	E	+	1	0	RIMS2	104967216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.366000	0.73095	2.653000	0.90120	0.563000	0.77884	GAA		PASS	0.453	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		17	37	17	37	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105261767	105261767	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:105261767C>T	ENST00000436393.2	+	26	3937	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I	RIMS2_ENST00000406091.3_Silent_p.I1214I|RIMS2_ENST00000507740.1_Silent_p.I1028I|RIMS2_ENST00000262231.10_Silent_p.I1053I|RIMS2_ENST00000339750.2_Silent_p.I150I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1276					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.I1028I(2)|p.I1214I(1)|p.I1232I(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGTAGAAATCATCCGGGCCC	0.398										HNSCC(12;0.0054)																												uc003yls.2																			4	Substitution - coding silent(4)		lung(4)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(3694-3696)ATC>ATT		regulating synaptic membrane exocytosis 2							74.0	76.0	76.0					8																	105261767		1852	4086	5938	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261767C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3696C>T	8.37:g.105261767C>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.I1214I|RIMS2_uc003ylw.2_Silent_p.I1221I|RIMS2_uc003ylq.2_Silent_p.I1028I|RIMS2_uc003ylr.2_Silent_p.I1053I	p.I1232I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		26	3937	+			1276			C2 2.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.3696C>T																																																																																					PASS	0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		19	21	19	21	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105360851	105360852	+	Missense_Mutation	DNP	CC	CC	TT	rs146486218		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:105360851_105360852CC>TT	ENST00000297581.2	+	2	120_121	c.71_72CC>TT	c.(70-72)cCC>cTT	p.P24L	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.P24L	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	24					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.P24L(3)|p.P24P(1)									CCAAGAAGCCCCGGATGGATGG	0.49																																						uc003ylx.1																			4	Substitution - Missense(3)|Substitution - coding silent(1)	p.P24L(1)	lung(3)|ovary(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(70-72)CCC>CTC|c.(70-72)CCC>CCT		dendritic cell-specific transmembrane protein																																				SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105360851C>T|g.chr8:105360852C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	Exception_encountered	8.37:g.105360851_105360852delinsTT	ENSP00000297581:p.Pro24Leu						p.P24L|p.P24P	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	120|121	+			24					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation|Silent	SNP	ENST00000297581.2	37	c.71C>T|c.72C>T	CCDS6301.1																																																																																				PASS	0.490	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		21	51|50	21	50	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107773477	107773477	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:107773477C>T	ENST00000311955.3	-	2	988	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.D312N(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AAGCACATGTCCATCATTTCC	0.488																																						uc003ymm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(934-936)GAC>AAC		actin-binding Rho activating protein							157.0	125.0	136.0					8																	107773477		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773477C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.934G>A	8.37:g.107773477C>T	ENSP00000311436:p.Asp312Asn						p.D312N	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	988	-			312						Missense_Mutation	SNP	ENST00000311955.3	37	c.934G>A	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201307	0.94997	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	6.06	0.98353	.	0.046595	0.85682	D	0.000000	T	0.75140	0.3809	L	0.54323	1.7	0.80722	D	1	D	0.55800	0.973	P	0.60415	0.874	T	0.73678	-0.3907	9	0.56958	D	0.05	-2.9516	20.6208	0.99490	0.0:1.0:0.0:0.0	.	312	Q8N0Z2	ABRA_HUMAN	N	312	.	ENSP00000311436:D312N	D	-	1	0	ABRA	107842653	1.000000	0.71417	0.993000	0.49108	0.700000	0.40528	6.003000	0.70701	2.882000	0.98803	0.655000	0.94253	GAC		PASS	0.488	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		8	31	8	31	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108348443	108348443	+	5'UTR	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:108348443G>A	ENST00000520734.1	-	0	195				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|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 protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.T170T(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTAGCTTGTAGGTGGATAATG	0.343																																						uc003ymn.2																			2	Substitution - coding silent(2)		ovary(1)|lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(508-510)ACC>ACT		angiopoietin 1 precursor							111.0	102.0	105.0					8																	108348443		2203	4300	6503	SO:0001623	5_prime_UTR_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108348443G>A	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-91C>T	8.37:g.108348443G>A						ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Silent_p.T170T	p.T170T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		3	978	-	Breast(1;5.06e-08)		170			Potential.		Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.510C>T																																																																																					PASS	0.343	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		13	15	13	15	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	109001380	109001380	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:109001380G>A	ENST00000276659.5	-	3	807	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	63					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.L63F(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTCTTCGAAGGAAGAAGAAC	0.468																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(187-189)CTT>TTT		R-spondin family, member 2 precursor							119.0	98.0	105.0					8																	109001380		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001380G>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.187C>T	8.37:g.109001380G>A	ENSP00000276659:p.Leu63Phe					RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron	p.L63F	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	845	-			63					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.187C>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279191	0.80692	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.04	4.14	0.48551	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.91446	0.7300	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91055	0.4881	10	0.44086	T	0.13	-0.9423	14.3481	0.66680	0.0756:0.0:0.9244:0.0	.	63	Q6UXX9	RSPO2_HUMAN	F	63;63;35;63	ENSP00000276659:L63F;ENSP00000430010:L63F;ENSP00000429159:L35F;ENSP00000430973:L63F	ENSP00000276659:L63F	L	-	1	0	RSPO2	109070556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.152000	0.64882	2.506000	0.84524	0.557000	0.71058	CTT		PASS	0.468	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		25	35	25	35	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	109001382	109001382	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:109001382A>G	ENST00000276659.5	-	3	805	c.185T>C	c.(184-186)tTc>tCc	p.F62S	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	62					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.F62S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTTCGAAGGAAGAAGAACAA	0.468																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(184-186)TTC>TCC		R-spondin family, member 2 precursor							119.0	98.0	105.0					8																	109001382		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001382A>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.185T>C	8.37:g.109001382A>G	ENSP00000276659:p.Phe62Ser					RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron	p.F62S	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	843	-			62					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.185T>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436142	0.62955	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.04	5.04	0.67666	Growth factor, receptor (1);	0.049739	0.85682	D	0.000000	D	0.83769	0.5326	N	0.25094	0.71	0.80722	D	1	P	0.41131	0.739	P	0.46917	0.531	T	0.80743	-0.1246	10	0.22706	T	0.39	0.1402	10.3434	0.43893	0.8534:0.0:0.0:0.1466	.	62	Q6UXX9	RSPO2_HUMAN	S	62;62;34;62	ENSP00000276659:F62S;ENSP00000430010:F62S;ENSP00000429159:F34S;ENSP00000430973:F62S	ENSP00000276659:F62S	F	-	2	0	RSPO2	109070558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.786000	0.75094	2.028000	0.59812	0.455000	0.32223	TTC		PASS	0.468	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		25	34	25	34	---	---	---	---
TMEM74	157753	broad.mit.edu	37	8	109796878	109796878	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:109796878C>T	ENST00000297459.3	-	2	628	c.450G>A	c.(448-450)gaG>gaA	p.E150E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	150					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.E150E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ATATGGCAGCCTCTTGGGACC	0.493																																						uc003ymy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(448-450)GAG>GAA		transmembrane protein 74							80.0	84.0	83.0					8																	109796878		2203	4300	6503	SO:0001819	synonymous_variant	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796878C>T	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.450G>A	8.37:g.109796878C>T						TMEM74_uc003ymx.2_Intron	p.E150E	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	555	-			150						Silent	SNP	ENST00000297459.3	37	c.450G>A	CCDS6310.1																																																																																				PASS	0.493	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		10	31	10	31	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110425768	110425768	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110425768G>A	ENST00000378402.5	+	21	2458	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	785					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G787E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGCTTATGGAAACAAGTAA	0.313										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2353-2355)GGA>GAA		fibrocystin L precursor							84.0	76.0	79.0					8																	110425768		1835	4076	5911	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110425768G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2354G>A	8.37:g.110425768G>A	ENSP00000367655:p.Gly785Glu	HNSCC(38;0.096)					p.G785E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		21	2458	+			785			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2354G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066779	0.20067	.	.	ENSG00000205038	ENST00000378402	D	0.84800	-1.9	5.15	4.27	0.50696	.	0.405543	0.24970	N	0.034160	T	0.81288	0.4791	M	0.63428	1.95	0.27828	N	0.94154	B	0.09022	0.002	B	0.04013	0.001	T	0.71286	-0.4638	10	0.36615	T	0.2	.	9.438	0.38650	0.0989:0.0:0.9011:0.0	.	785	Q86WI1	PKHL1_HUMAN	E	785	ENSP00000367655:G785E	ENSP00000367655:G785E	G	+	2	0	PKHD1L1	110494944	1.000000	0.71417	0.918000	0.36340	0.486000	0.33341	2.416000	0.44644	1.160000	0.42584	0.491000	0.48974	GGA		PASS	0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	7	3	7	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110437378	110437378	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110437378A>T	ENST00000378402.5	+	24	2866	c.2762A>T	c.(2761-2763)aAa>aTa	p.K921I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	921					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K923I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCGAGTCAAAAATTCATATT	0.318										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(2761-2763)AAA>ATA		fibrocystin L precursor							45.0	46.0	46.0					8																	110437378		1833	4089	5922	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437378A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2762A>T	8.37:g.110437378A>T	ENSP00000367655:p.Lys921Ile	HNSCC(38;0.096)					p.K921I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2866	+			921			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2762A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744697	0.49151	.	.	ENSG00000205038	ENST00000378402	D	0.86097	-2.07	5.16	5.16	0.70880	.	0.532851	0.18130	N	0.150774	T	0.81969	0.4935	L	0.60455	1.87	0.24333	N	0.995	B	0.13145	0.007	B	0.04013	0.001	T	0.72060	-0.4404	10	0.41790	T	0.15	.	11.6637	0.51363	1.0:0.0:0.0:0.0	.	921	Q86WI1	PKHL1_HUMAN	I	921	ENSP00000367655:K921I	ENSP00000367655:K921I	K	+	2	0	PKHD1L1	110506554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.011000	0.40922	2.059000	0.61396	0.455000	0.32223	AAA		PASS	0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	27	14	27	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457850	110457850	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110457850C>T	ENST00000378402.5	+	38	5856	c.5752C>T	c.(5752-5754)Ctc>Ttc	p.L1918F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1918	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L1920F(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACTCCATTTCTCAGAGGAAT	0.358										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5752-5754)CTC>TTC		fibrocystin L precursor							19.0	19.0	19.0					8																	110457850		1828	4092	5920	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457850C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5752C>T	8.37:g.110457850C>T	ENSP00000367655:p.Leu1918Phe	HNSCC(38;0.096)					p.L1918F	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5856	+			1918			Extracellular (Potential).|IPT/TIG 12.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5752C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860668	0.32884	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	6.03	5.1	0.69264	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.070079	0.56097	D	0.000025	D	0.88793	0.6533	L	0.53249	1.67	0.27244	N	0.959062	D	0.58970	0.984	P	0.61874	0.895	T	0.82782	-0.0287	10	0.66056	D	0.02	.	12.8347	0.57767	0.0:0.7274:0.2726:0.0	.	1918	Q86WI1	PKHL1_HUMAN	F	1918	ENSP00000367655:L1918F	ENSP00000367655:L1918F	L	+	1	0	PKHD1L1	110527026	1.000000	0.71417	0.798000	0.32154	0.042000	0.13812	2.008000	0.40893	2.861000	0.98227	0.655000	0.94253	CTC		PASS	0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	15	5	15	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110530644	110530644	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110530644G>A	ENST00000378402.5	+	73	12042	c.11938G>A	c.(11938-11940)Ggg>Agg	p.G3980R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3980					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G3984R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAAGAGGGAAGAGTCT	0.393										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11938-11940)GGG>AGG		fibrocystin L precursor							79.0	78.0	78.0					8																	110530644		1848	4082	5930	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530644G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11938G>A	8.37:g.110530644G>A	ENSP00000367655:p.Gly3980Arg	HNSCC(38;0.096)					p.G3980R	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	12042	+			3980			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11938G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	5.843	0.339843	0.11069	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.84944	-1.92;-1.75	5.93	4.12	0.48240	.	0.225493	0.43919	N	0.000519	T	0.80031	0.4549	M	0.67953	2.075	0.09310	N	1	B	0.28760	0.221	B	0.24155	0.051	T	0.63116	-0.6709	10	0.13470	T	0.59	.	9.7706	0.40587	0.0769:0.1418:0.7813:0.0	.	3980	Q86WI1	PKHL1_HUMAN	R	3980;908	ENSP00000367655:G3980R;ENSP00000437376:G908R	ENSP00000367655:G3980R	G	+	1	0	PKHD1L1	110599820	0.376000	0.25098	0.002000	0.10522	0.334000	0.28698	2.246000	0.43142	0.805000	0.34159	0.655000	0.94253	GGG		PASS	0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		24	50	24	50	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980452	110980452	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110980452C>G	ENST00000524391.1	-	4	2400	c.1368G>C	c.(1366-1368)aaG>aaC	p.K456N	KCNV1_ENST00000297404.1_Missense_Mutation_p.K456N			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	456					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.K456N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGCTATATTCTTGGTAAGCT	0.433																																						uc003ynr.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(1366-1368)AAG>AAC		potassium channel, subfamily V, member 1							107.0	101.0	103.0					8																	110980452		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980452C>G	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1368G>C	8.37:g.110980452C>G	ENSP00000435954:p.Lys456Asn					KCNV1_uc010mcw.2_Missense_Mutation_p.K456N	p.K456N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1710	-	all_neural(195;0.219)		456			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1368G>C	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600873	0.46423	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97688	-4.49;-4.49	5.65	2.86	0.33363	.	0.063724	0.64402	D	0.000013	D	0.92766	0.7700	N	0.19112	0.55	0.42351	D	0.992377	P	0.38978	0.652	B	0.33295	0.161	D	0.92491	0.6000	10	0.66056	D	0.02	.	10.7322	0.46104	0.0:0.7982:0.0:0.2018	.	456	Q6PIU1	KCNV1_HUMAN	N	456;456;332	ENSP00000435954:K456N;ENSP00000297404:K456N	ENSP00000297404:K456N	K	-	3	2	KCNV1	111049628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.190000	0.32126	1.374000	0.46228	0.655000	0.94253	AAG		PASS	0.433	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		15	33	15	33	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110980599	110980599	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:110980599G>A	ENST00000524391.1	-	4	2253	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	KCNV1_ENST00000297404.1_Silent_p.I407I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	407					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.I407I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGAAGGCCACGATTTTGCCTG	0.473																																						uc003ynr.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(1219-1221)ATC>ATT		potassium channel, subfamily V, member 1							111.0	111.0	111.0					8																	110980599		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980599G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1221C>T	8.37:g.110980599G>A						KCNV1_uc010mcw.2_Silent_p.I407I	p.I407I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1563	-	all_neural(195;0.219)		407			Helical; Name=Segment S6; (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.1221C>T	CCDS6314.1																																																																																				PASS	0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		35	58	35	58	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113299319	113299319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:113299319C>T	ENST00000297405.5	-	58	9549	c.9305G>A	c.(9304-9306)tGg>tAg	p.W3102*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W2933*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3032*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3062*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3102	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W3062*(1)|p.W3102*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCCGGTCCAACTGCCATT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9304-9306)TGG>TAG		CUB and Sushi multiple domains 3 isoform 1							167.0	146.0	153.0					8																	113299319		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113299319C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9305G>A	8.37:g.113299319C>T	ENSP00000297405:p.Trp3102*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.W2304*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W3062*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W2933*	p.W3102*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9464	-			3102			Extracellular (Potential).|Sushi 22.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.9305G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	51	18.288538	0.99902	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.445	0.94843	0.0:1.0:0.0:0.0	.	.	.	.	X	3062;3102;2372;2933;3032	.	ENSP00000297405:W3102X	W	-	2	0	CSMD3	113368495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.583000	0.82559	2.665000	0.90641	0.650000	0.86243	TGG		PASS	0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	38	14	38	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113303820	113303820	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:113303820G>A	ENST00000297405.5	-	56	9137	c.8893C>T	c.(8893-8895)Cct>Tct	p.P2965S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2796S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2895S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2925S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2965	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2965S(1)|p.P2925S(1)|p.P2965T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATATCCAGGATTGCAGTCA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - Missense(3)		lung(2)|kidney(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8893-8895)CCT>TCT		CUB and Sushi multiple domains 3 isoform 1							114.0	113.0	113.0					8																	113303820		2203	4298	6501	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113303820G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8893C>T	8.37:g.113303820G>A	ENSP00000297405:p.Pro2965Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P2167S|CSMD3_uc003ynt.2_Missense_Mutation_p.P2925S|CSMD3_uc011lhx.1_Missense_Mutation_p.P2796S	p.P2965S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			56	9052	-			2965			Extracellular (Potential).|Sushi 20.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8893C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233744	0.79688	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.73329	0.3573	L	0.42581	1.335	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.973;0.988	D;D;P	0.81914	0.995;0.977;0.885	T	0.67608	-0.5627	10	0.26408	T	0.33	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	2796;2965;2925	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2925;2965;2235;2796;2895	ENSP00000345799:P2925S;ENSP00000297405:P2965S;ENSP00000341558:P2235S;ENSP00000412263:P2796S;ENSP00000343124:P2895S	ENSP00000297405:P2965S	P	-	1	0	CSMD3	113372996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.544000	0.73878	2.703000	0.92315	0.655000	0.94253	CCT		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	44	15	44	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113562986	113562986	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:113562986C>T	ENST00000297405.5	-	27	4722	c.4478G>A	c.(4477-4479)gGa>gAa	p.G1493E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1389E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1493E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1453E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1493	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1493E(1)|p.G1453E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTATGAATTCCTTCAGGAAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4477-4479)GGA>GAA		CUB and Sushi multiple domains 3 isoform 1							75.0	76.0	75.0					8																	113562986		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113562986C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4478G>A	8.37:g.113562986C>T	ENSP00000297405:p.Gly1493Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G765E|CSMD3_uc003ynt.2_Missense_Mutation_p.G1453E|CSMD3_uc011lhx.1_Missense_Mutation_p.G1389E	p.G1493E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4637	-			1493			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4478G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654757	0.14580	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	4.36	4.36	0.52297	CUB (5);	0.075611	0.51477	D	0.000081	T	0.17577	0.0422	N	0.11870	0.19	0.30270	N	0.792388	P;P;P	0.50156	0.917;0.932;0.726	P;P;B	0.56088	0.687;0.791;0.219	T	0.03922	-1.0992	10	0.08837	T	0.75	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1389;1493;1453	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	1453;1493;833;1389;1493	ENSP00000345799:G1453E;ENSP00000297405:G1493E;ENSP00000341558:G833E;ENSP00000412263:G1389E;ENSP00000343124:G1493E	ENSP00000297405:G1493E	G	-	2	0	CSMD3	113632162	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.213000	0.51153	2.412000	0.81896	0.591000	0.81541	GGA		PASS	0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	31	19	31	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564835	113564835	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:113564835C>T	ENST00000297405.5	-	26	4593	c.4349G>A	c.(4348-4350)gGa>gAa	p.G1450E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1346E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1450E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1410E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1450	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1450E(1)|p.G1410E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACAATATTTCCAGGATCTAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4348-4350)GGA>GAA		CUB and Sushi multiple domains 3 isoform 1							71.0	68.0	69.0					8																	113564835		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113564835C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4349G>A	8.37:g.113564835C>T	ENSP00000297405:p.Gly1450Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G722E|CSMD3_uc003ynt.2_Missense_Mutation_p.G1410E|CSMD3_uc011lhx.1_Missense_Mutation_p.G1346E	p.G1450E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4508	-			1450			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4349G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021273	0.75275	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.74	4.74	0.60224	CUB (5);	0.000000	0.64402	D	0.000002	D	0.83681	0.5307	M	0.92077	3.27	0.42132	D	0.991478	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.72625	0.948;0.969;0.978	D	0.86972	0.2098	10	0.51188	T	0.08	.	18.2856	0.90113	0.0:1.0:0.0:0.0	.	1346;1450;1410	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	1410;1450;790;1346;1450	ENSP00000345799:G1410E;ENSP00000297405:G1450E;ENSP00000341558:G790E;ENSP00000412263:G1346E;ENSP00000343124:G1450E	ENSP00000297405:G1450E	G	-	2	0	CSMD3	113634011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.801000	0.69115	2.617000	0.88574	0.655000	0.94253	GGA		PASS	0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	32	7	32	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113564926	113564926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:113564926C>A	ENST00000297405.5	-	26	4502	c.4258G>T	c.(4258-4260)Gga>Tga	p.G1420*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1316*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1420*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1380*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1420	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1380*(1)|p.G1420*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGATTCTCCTTTAAAACGA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4258-4260)GGA>TGA		CUB and Sushi multiple domains 3 isoform 1							78.0	75.0	76.0					8																	113564926		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113564926C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4258G>T	8.37:g.113564926C>A	ENSP00000297405:p.Gly1420*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.G692*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1380*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1316*	p.G1420*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4417	-			1420			Extracellular (Potential).|CUB 8.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.4258G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	46	12.489002	0.99672	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	.	.	.	X	1380;1420;760;1316;1420	.	ENSP00000297405:G1420X	G	-	1	0	CSMD3	113634102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.719000	0.93026	0.655000	0.94253	GGA		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	54	4	54	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114111025	114111025	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:114111025C>T	ENST00000297405.5	-	5	1121	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000455883.2_Missense_Mutation_p.D293N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D293N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D253N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	293	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D293N(1)|p.D253N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTAAGTAATCATATTTCTCT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(877-879)GAT>AAT		CUB and Sushi multiple domains 3 isoform 1							96.0	96.0	96.0					8																	114111025		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111025C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.877G>A	8.37:g.114111025C>T	ENSP00000297405:p.Asp293Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.D253N|CSMD3_uc011lhx.1_Missense_Mutation_p.D293N|CSMD3_uc010mcx.1_Missense_Mutation_p.D293N	p.D293N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	1036	-			293			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.877G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832242	0.91036	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.4	5.4	0.78164	CUB (5);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.93720	3.45	0.46725	D	0.999173	D;D;D;D	0.89917	0.991;1.0;1.0;0.997	P;D;D;D	0.91635	0.86;0.998;0.999;0.997	D	0.98376	1.0556	10	0.56958	D	0.05	.	19.5394	0.95268	0.0:1.0:0.0:0.0	.	293;293;293;253	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	N	253;293;293;293	ENSP00000345799:D253N;ENSP00000297405:D293N;ENSP00000412263:D293N;ENSP00000343124:D293N	ENSP00000297405:D293N	D	-	1	0	CSMD3	114180201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.703000	0.92315	0.650000	0.86243	GAT		PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		7	28	7	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114290921	114290921	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:114290921G>A	ENST00000297405.5	-	3	658	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CSMD3_ENST00000455883.2_Silent_p.F138F|CSMD3_ENST00000352409.3_Silent_p.F138F|CSMD3_ENST00000343508.3_Silent_p.F98F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	138	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F138F(1)|p.F98F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGGCAGATGGAATCCTGTTA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(412-414)TTC>TTT		CUB and Sushi multiple domains 3 isoform 1							104.0	94.0	97.0					8																	114290921		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114290921G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.414C>T	8.37:g.114290921G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.F98F|CSMD3_uc011lhx.1_Silent_p.F138F|CSMD3_uc010mcx.1_Silent_p.F138F	p.F138F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	573	-			138			Extracellular (Potential).|CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.414C>T	CCDS6315.1																																																																																				PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	26	16	26	---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120118127	120118127	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:120118127G>A	ENST00000332843.2	+	6	572	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R177R(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CCCACTGCAGGATTCGGGGTG	0.507																																						uc003yoo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(529-531)AGG>AGA		collectin sub-family member 10 precursor							105.0	82.0	90.0					8																	120118127		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118127G>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.531G>A	8.37:g.120118127G>A							p.R177R	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	628	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		177			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.531G>A	CCDS6327.1																																																																																				PASS	0.507	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			23	25	23	25	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120581497	120581497	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:120581497G>A	ENST00000075322.6	-	21	2089	c.2031C>T	c.(2029-2031)tcC>tcT	p.S677S	ENPP2_ENST00000522826.1_Silent_p.S702S|ENPP2_ENST00000259486.6_Silent_p.S729S|ENPP2_ENST00000522167.1_Silent_p.S312S|ENPP2_ENST00000427067.2_Silent_p.S698S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	677					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S729S(1)|p.S702S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGAATCCGTAGGACATCTGCT	0.453																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2029-2031)TCC>TCT		autotaxin isoform 2 preproprotein							180.0	170.0	174.0					8																	120581497		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120581497G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2031C>T	8.37:g.120581497G>A						ENPP2_uc011lic.1_Silent_p.S215S|ENPP2_uc003yor.1_Silent_p.S312S|ENPP2_uc003yos.1_Silent_p.S729S|ENPP2_uc010mdd.1_Silent_p.S702S	p.S677S	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		21	2117	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		677					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2031C>T	CCDS34936.1																																																																																				PASS	0.453	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			52	71	52	71	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120602865	120602865	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:120602865C>T	ENST00000075322.6	-	13	1145	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	ENPP2_ENST00000522826.1_Missense_Mutation_p.E363K|ENPP2_ENST00000259486.6_Missense_Mutation_p.E415K|ENPP2_ENST00000522167.1_Missense_Mutation_p.E2K|ENPP2_ENST00000427067.2_Missense_Mutation_p.E359K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	363					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E363K(1)|p.E415K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGACATCTTCCATTCCTATG	0.363																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1087-1089)GAA>AAA		autotaxin isoform 2 preproprotein							83.0	85.0	85.0					8																	120602865		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120602865C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1087G>A	8.37:g.120602865C>T	ENSP00000075322:p.Glu363Lys					ENPP2_uc003yor.1_Missense_Mutation_p.E2K|ENPP2_uc003yos.1_Missense_Mutation_p.E415K|ENPP2_uc010mdd.1_Missense_Mutation_p.E363K	p.E363K	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		13	1173	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		363					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1087G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408634	0.96072	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.66	5.66	0.87406	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	T	0.82643	-0.0356	10	0.72032	D	0.01	.	19.7534	0.96277	0.0:1.0:0.0:0.0	.	363;363;415;2	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	K	415;359;2;363;363	ENSP00000259486:E415K;ENSP00000403315:E359K;ENSP00000429476:E2K;ENSP00000428291:E363K;ENSP00000075322:E363K	ENSP00000075322:E363K	E	-	1	0	ENPP2	120672046	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.398000	0.79919	2.673000	0.90976	0.650000	0.86243	GAA		PASS	0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			12	21	12	21	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120797488	120797488	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:120797488G>A	ENST00000378164.2	-	15	2110	c.1812C>T	c.(1810-1812)atC>atT	p.I604I		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	604				I -> K (in Ref. 6; AAH35673/AAH47732). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I604I(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCATCAGTGGGATTTTTTTCT	0.294																																						uc003you.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(1810-1812)ATC>ATT		TBP-associated factor 2							64.0	66.0	65.0					8																	120797488		2200	4294	6494	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120797488G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1812C>T	8.37:g.120797488G>A							p.I604I	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		15	2082	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		604	I -> K (in Ref. 6; AAH35673/AAH47732).				B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.1812C>T	CCDS34937.1																																																																																				PASS	0.294	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		7	23	7	23	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121243858	121243858	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:121243858G>A	ENST00000297848.3	+	19	2619		c.e19+1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.?(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATAGGAACGGTCTGTATAAA	0.443																																						uc003yox.2																			1	Unknown(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.e19+1		collagen, type XIV, alpha 1 precursor							73.0	68.0	70.0					8																	121243858		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121243858G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2349+1G>A	8.37:g.121243858G>A						COL14A1_uc003yoy.2_Splice_Site_p.T461_splice	p.T783_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		19	2614	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37	c.2349_splice	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547646	0.65311	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4089	0.83699	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121313039	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.498000	0.73679	2.624000	0.88883	0.561000	0.74099	.		PASS	0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	11	26	11	26	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124358871	124358871	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:124358871G>A	ENST00000287394.5	-	17	2439	c.2332C>T	c.(2332-2334)Ctt>Ttt	p.L778F	ATAD2_ENST00000521903.1_Missense_Mutation_p.L96F|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	778					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L778F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAAATGAAGAAAATTAAAA	0.279																																						uc003yqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2332-2334)CTT>TTT		ATPase family, AAA domain containing 2							39.0	43.0	42.0					8																	124358871		2201	4294	6495	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358871G>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2332C>T	8.37:g.124358871G>A	ENSP00000287394:p.Leu778Phe					ATAD2_uc011lii.1_Missense_Mutation_p.L569F|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.L778F	p.L778F	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		17	2440	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		778					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2332C>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138010	0.77775	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.93019	-3.15;1.24	6.02	6.02	0.97574	.	0.132901	0.51477	D	0.000098	D	0.93294	0.7863	M	0.65975	2.015	0.39955	D	0.974582	P	0.49090	0.919	B	0.43274	0.414	D	0.93938	0.7220	10	0.59425	D	0.04	-19.5698	19.3185	0.94226	0.0:0.0:1.0:0.0	.	778	Q6PL18	ATAD2_HUMAN	F	778;96	ENSP00000287394:L778F;ENSP00000429213:L96F	ENSP00000287394:L778F	L	-	1	0	ATAD2	124428052	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.064000	0.49986	2.850000	0.98022	0.650000	0.86243	CTT		PASS	0.279	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		14	25	14	25	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125076649	125076649	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:125076649C>T	ENST00000522917.1	+	26	3596	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1130P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1130						integral component of membrane (GO:0016021)		p.P1130P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCAGGATCCCCCAGCAGATC	0.572																																						uc003yqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3388-3390)CCC>CCT		fer-1-like 6							111.0	121.0	118.0					8																	125076649		2027	4181	6208	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125076649C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3390C>T	8.37:g.125076649C>T						uc003yqy.1_Intron	p.P1130P	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3596	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1130			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.3390C>T	CCDS43767.1																																																																																				PASS	0.572	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		27	83	27	83	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125107243	125107243	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:125107243G>A	ENST00000522917.1	+	35	4865	c.4659G>A	c.(4657-4659)cgG>cgA	p.R1553R	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.R1553R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1553						integral component of membrane (GO:0016021)		p.R1553R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAGAAACTCGGCCACTGTACC	0.478																																						uc003yqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4657-4659)CGG>CGA		fer-1-like 6							86.0	81.0	82.0					8																	125107243		1929	4145	6074	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125107243G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4659G>A	8.37:g.125107243G>A						uc003yqy.1_Intron	p.R1553R	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		35	4865	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1553			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.4659G>A	CCDS43767.1																																																																																				PASS	0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		25	37	25	37	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125580630	125580630	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:125580630C>T	ENST00000518547.1	-	7	1081	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000378017.3_Missense_Mutation_p.R203Q|MTSS1_ENST00000431961.2_Missense_Mutation_p.R3Q|MTSS1_ENST00000524090.1_Missense_Mutation_p.R93Q|MTSS1_ENST00000325064.5_Missense_Mutation_p.R207Q|MTSS1_ENST00000354184.4_Missense_Mutation_p.R3Q|NDUFB9_ENST00000522532.1_3'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	203	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R203Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCACTGGCCGCAGCATAGA	0.428																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)CGG>CAG		metastasis suppressor 1							81.0	71.0	74.0					8																	125580630		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125580630C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.608G>A	8.37:g.125580630C>T	ENSP00000429064:p.Arg203Gln					NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Missense_Mutation_p.R93Q|MTSS1_uc003yri.2_Missense_Mutation_p.R3Q|MTSS1_uc003yrj.2_Missense_Mutation_p.R203Q|MTSS1_uc003yrl.2_Missense_Mutation_p.R207Q	p.R203Q	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	1142	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		203			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.608G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539387	0.27475	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	T;T;T;T;T;T;T	0.40225	1.64;1.62;1.63;1.61;1.63;1.61;1.04	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.056984	0.64402	D	0.000002	T	0.27663	0.0680	N	0.01197	-0.965	0.80722	D	1	D;P;P;P;P	0.56968	0.978;0.818;0.543;0.677;0.795	P;B;B;B;B	0.51355	0.667;0.062;0.145;0.05;0.081	T	0.41270	-0.9518	10	0.17369	T	0.5	-22.3389	19.861	0.96785	0.0:1.0:0.0:0.0	.	93;203;203;203;3	E7EWW5;A5YM41;O43312;O43312-4;O43312-2	.;.;MTSS1_HUMAN;.;.	Q	203;203;3;207;3;93;3	ENSP00000367256:R203Q;ENSP00000429064:R203Q;ENSP00000346119:R3Q;ENSP00000322804:R207Q;ENSP00000393606:R3Q;ENSP00000428319:R93Q;ENSP00000428145:R3Q	ENSP00000322804:R207Q	R	-	2	0	MTSS1	125649811	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.609000	0.46317	2.767000	0.95098	0.655000	0.94253	CGG		PASS	0.428	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		16	33	16	33	---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126021463	126021463	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:126021463C>T	ENST00000265896.5	+	6	1884	c.986C>T	c.(985-987)cCg>cTg	p.P329L	SQLE_ENST00000523430.1_Missense_Mutation_p.P234L	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	329					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.P328L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTAGCTAACCCGAGTCCAGTT	0.323																																						uc011liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(985-987)CCG>CTG		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						91.0	87.0	88.0					8																	126021463		1820	4077	5897	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126021463C>T	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.986C>T	8.37:g.126021463C>T	ENSP00000265896:p.Pro329Leu						p.P329L	NM_003129	NP_003120	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		6	1912	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		329					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.986C>T	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975070	0.74360	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	.	.	.	5.83	4.95	0.65309	Squalene epoxidase (1);	0.141660	0.64402	D	0.000004	T	0.79816	0.4511	M	0.90759	3.145	0.80722	D	1	D	0.63046	0.992	P	0.58266	0.836	T	0.82212	-0.0569	9	0.34782	T	0.22	-3.2342	16.3387	0.83075	0.1333:0.8667:0.0:0.0	.	329	Q14534	ERG1_HUMAN	L	234;329;134	.	ENSP00000265896:P329L	P	+	2	0	SQLE	126090645	0.994000	0.37717	0.058000	0.19502	0.989000	0.77384	4.960000	0.63673	1.462000	0.47948	0.561000	0.74099	CCG		PASS	0.323	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		18	59	18	59	---	---	---	---
KIAA0196	9897	broad.mit.edu	37	8	126071656	126071656	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:126071656G>A	ENST00000318410.7	-	13	1999	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	KIAA0196_ENST00000517845.1_Silent_p.I402I	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	550					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)		p.I550I(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGTCCCCAACGATCTGCATTG	0.423																																						uc003yrt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1648-1650)ATC>ATT		strumpellin							123.0	117.0	119.0					8																	126071656		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126071656G>A		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1650C>T	8.37:g.126071656G>A						KIAA0196_uc011lir.1_Silent_p.I402I|KIAA0196_uc003yru.1_Silent_p.I124I	p.I550I	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		13	1979	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		550					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.1650C>T	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938282	0.18206	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.67	-1.45	0.08828	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43196	-0.9406	4	.	.	.	-22.6763	6.8448	0.23982	0.5272:0.0:0.3152:0.1575	.	.	.	.	L	167	.	.	S	-	2	0	KIAA0196	126140838	0.499000	0.26083	0.216000	0.23742	0.989000	0.77384	-0.286000	0.08399	-0.171000	0.10797	0.650000	0.86243	TCG		PASS	0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		43	36	43	36	---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130874574	130874574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:130874574G>A	ENST00000519824.2	-	5	475	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000522746.1_Nonsense_Mutation_p.Q68*|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.Q68*|FAM49B_ENST00000523509.1_Nonsense_Mutation_p.Q68*|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000401979.2_Nonsense_Mutation_p.Q68*|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.Q68*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.Q68*	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	68						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.Q68*(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCTGGATGCTGGATTGCCTTC	0.338																																						uc003yss.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(202-204)CAG>TAG		hypothetical protein LOC51571							87.0	87.0	87.0					8																	130874574		2203	4300	6503	SO:0001587	stop_gained	51571							g.chr8:130874574G>A	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.202C>T	8.37:g.130874574G>A	ENSP00000429150:p.Gln68*					FAM49B_uc003yst.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysu.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysx.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysy.1_Nonsense_Mutation_p.Q68*	p.Q68*	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		8	751	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		68					Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	ENST00000519824.2	37	c.202C>T	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	39	7.772630	0.98480	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000311292;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.5209	18.877	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;68;68;68;68;68;24;68;68;68;68;68;68	.	ENSP00000311651:Q24X	Q	-	1	0	FAM49B	130943756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.032000	0.88838	2.777000	0.95525	0.591000	0.81541	CAG		PASS	0.338	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		20	50	20	50	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131896830	131896830	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:131896830C>T	ENST00000286355.5	-	8	4181	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N	ADCY8_ENST00000377928.3_Missense_Mutation_p.D697N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	697					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D697N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCTGGAGTCTTTAAACATC	0.468										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2089-2091)GAC>AAC		adenylate cyclase 8							117.0	115.0	116.0					8																	131896830		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896830C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2089G>A	8.37:g.131896830C>T	ENSP00000286355:p.Asp697Asn	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.D697N	p.D697N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	2345	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		697			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2089G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446477	0.96187	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78707	0.97;-1.2	5.98	5.98	0.97165	.	0.043315	0.85682	D	0.000000	T	0.82070	0.4957	L	0.28400	0.85	0.53005	D	0.999962	P;D	0.69078	0.643;0.997	B;D	0.67900	0.331;0.954	T	0.79415	-0.1813	10	0.33940	T	0.23	.	19.5094	0.95135	0.0:1.0:0.0:0.0	.	697;697	E7EVL1;P40145	.;ADCY8_HUMAN	N	697	ENSP00000286355:D697N;ENSP00000367161:D697N	ENSP00000286355:D697N	D	-	1	0	ADCY8	131966012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.319000	0.79040	2.861000	0.98227	0.650000	0.86243	GAC		PASS	0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			31	69	31	69	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131896949	131896949	+	Missense_Mutation	SNP	G	G	A	rs376569097		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:131896949G>A	ENST00000286355.5	-	8	4062	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A657V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	657					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A657V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACATGCAAAGCTTGTGCAAG	0.443										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1969-1971)GCT>GTT		adenylate cyclase 8		G	VAL/ALA	0,4406		0,0,2203	147.0	142.0	143.0		1970	6.0	1.0	8		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY8	NM_001115.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	657/1252	131896949	1,13005	2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896949G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1970C>T	8.37:g.131896949G>A	ENSP00000286355:p.Ala657Val	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A657V	p.A657V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	2226	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		657			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1970C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972782	0.92919	0.0	1.16E-4	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.76839	-1.05;-1.05	6.01	6.01	0.97437	.	0.049832	0.85682	D	0.000000	D	0.82495	0.5049	L	0.29908	0.895	0.58432	D	0.999991	D;D	0.69078	0.997;0.997	D;D	0.80764	0.992;0.994	T	0.79032	-0.1969	10	0.29301	T	0.29	.	19.5093	0.95135	0.0:0.0:1.0:0.0	.	657;657	E7EVL1;P40145	.;ADCY8_HUMAN	V	657	ENSP00000286355:A657V;ENSP00000367161:A657V	ENSP00000286355:A657V	A	-	2	0	ADCY8	131966131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.861000	0.98227	0.650000	0.86243	GCT		PASS	0.443	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			35	84	35	84	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036823	133036823	+	Missense_Mutation	SNP	C	C	T	rs183454073	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:133036823C>T	ENST00000443356.2	-	15	1473	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	OC90_ENST00000262283.5_Missense_Mutation_p.E659K|OC90_ENST00000254627.3_Missense_Mutation_p.E447K|OC90_ENST00000603859.1_Missense_Mutation_p.E447K			Q02509	OC90_HUMAN	otoconin 90	463					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.E421K(1)|p.E659K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGTCCTCCTCGCTGTCCTCC	0.647													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17987	0.0		0.0	False		,,,				2504	0.0					uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1339-1341)GAG>AAG		otoconin 90		C	LYS/GLU	1,3847		0,1,1923	22.0	25.0	24.0		1339	0.8	0.0	8		24	2,8240		0,2,4119	yes	missense	OC90	NM_001080399.2	56	0,3,6042	TT,TC,CC		0.0243,0.026,0.0248	probably-damaging	447/478	133036823	3,12087	1924	4121	6045	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036823C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1387G>A	8.37:g.133036823C>T	ENSP00000390050:p.Glu463Lys					OC90_uc011lix.1_Missense_Mutation_p.E447K	p.E447K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1339	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		463					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1339G>A		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	12.98	2.101592	0.37048	2.6E-4	2.43E-4	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.38560	1.16;1.17;1.13	5.85	0.815	0.18763	.	0.423640	0.24559	N	0.037484	T	0.23133	0.0559	L	0.55990	1.75	0.09310	N	1	P;P	0.49090	0.919;0.868	B;B	0.38156	0.266;0.137	T	0.20207	-1.0282	10	0.72032	D	0.01	-7.2016	5.644	0.17579	0.1481:0.6257:0.0986:0.1276	.	447;463	Q02509-2;Q02509	.;OC90_HUMAN	K	447;463;659	ENSP00000254627:E447K;ENSP00000390050:E463K;ENSP00000262283:E659K	ENSP00000254627:E447K	E	-	1	0	RP11-240B13.2;OC90	133106005	0.640000	0.27243	0.002000	0.10522	0.009000	0.06853	1.063000	0.30567	-0.108000	0.12066	-0.795000	0.03280	GAG		PASS	0.647	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		6	13	6	13	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036847	133036847	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:133036847C>T	ENST00000443356.2	-	15	1449	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	OC90_ENST00000262283.5_Missense_Mutation_p.G651S|OC90_ENST00000254627.3_Missense_Mutation_p.G439S|OC90_ENST00000603859.1_Missense_Mutation_p.G439S			Q02509	OC90_HUMAN	otoconin 90	455					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.G413S(1)|p.G651S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAGCTGGAGCCCAGGGTGGGG	0.647																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1315-1317)GGC>AGC		otoconin 90							20.0	23.0	22.0					8																	133036847		1930	4132	6062	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036847C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1363G>A	8.37:g.133036847C>T	ENSP00000390050:p.Gly455Ser					OC90_uc011lix.1_Missense_Mutation_p.G439S	p.G439S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1315	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		455					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.1315G>A		.	.	.	.	.	.	.	.	.	.	C	11.47	1.648171	0.29336	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.34072	1.38;1.4;1.38	5.85	1.59	0.23543	.	0.806538	0.11777	N	0.530574	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.16722	0.016;0.007	T	0.32508	-0.9904	10	0.10902	T	0.67	-11.0001	6.2102	0.20626	0.0:0.4982:0.0:0.5018	.	439;455	Q02509-2;Q02509	.;OC90_HUMAN	S	439;455;651	ENSP00000254627:G439S;ENSP00000390050:G455S;ENSP00000262283:G651S	ENSP00000254627:G439S	G	-	1	0	RP11-240B13.2;OC90	133106029	0.000000	0.05858	0.104000	0.21259	0.366000	0.29705	-0.221000	0.09202	0.402000	0.25451	0.655000	0.94253	GGC		PASS	0.647	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		7	10	7	10	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133045358	133045358	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:133045358G>A	ENST00000443356.2	-	12	921	c.835C>T	c.(835-837)Cct>Tct	p.P279S	OC90_ENST00000262283.5_Missense_Mutation_p.P475S|OC90_ENST00000254627.3_Missense_Mutation_p.P263S|OC90_ENST00000603859.1_Missense_Mutation_p.P263S			Q02509	OC90_HUMAN	otoconin 90	279					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.P237S(1)|p.P475S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATGCCAGCAGGGACAAGGGTT	0.448																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(787-789)CCT>TCT		otoconin 90							60.0	63.0	62.0					8																	133045358		1896	4124	6020	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133045358G>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.835C>T	8.37:g.133045358G>A	ENSP00000390050:p.Pro279Ser					OC90_uc011lix.1_Missense_Mutation_p.P263S	p.P263S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		10	787	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		279					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.787C>T		.	.	.	.	.	.	.	.	.	.	G	7.178	0.589070	0.13812	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.29397	1.63;1.59;1.57	4.58	1.66	0.24008	.	0.326003	0.32134	N	0.006532	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.24618	0.107;0.038	B;B	0.18871	0.023;0.015	T	0.21449	-1.0245	10	0.20046	T	0.44	-9.557	5.7135	0.17948	0.3717:0.0:0.6283:0.0	.	263;279	Q02509-2;Q02509	.;OC90_HUMAN	S	263;279;475	ENSP00000254627:P263S;ENSP00000390050:P279S;ENSP00000262283:P475S	ENSP00000254627:P263S	P	-	1	0	RP11-240B13.2;OC90	133114540	0.108000	0.22018	0.005000	0.12908	0.163000	0.22366	0.832000	0.27490	0.363000	0.24346	0.591000	0.81541	CCT		PASS	0.448	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		4	15	4	15	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133854821	133854821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:133854821C>T	ENST00000395386.2	+	19	2748	c.2449C>T	c.(2449-2451)Caa>Taa	p.Q817*	AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.Q204*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.Q792*|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	817							zinc ion binding (GO:0008270)	p.Q791*(1)|p.Q817*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGACCAAGATCAAATAATAGC	0.388																																						uc003ytt.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(2449-2451)CAA>TAA		PHD finger protein 20-like 1 isoform 1							57.0	54.0	55.0					8																	133854821		1816	4066	5882	SO:0001587	stop_gained	51105						nucleic acid binding|zinc ion binding	g.chr8:133854821C>T	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2449C>T	8.37:g.133854821C>T	ENSP00000378784:p.Gln817*					PHF20L1_uc011lja.1_Nonsense_Mutation_p.Q791*	p.Q817*	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	2774	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		817					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	ENST00000395386.2	37	c.2449C>T	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	38	6.938122	0.97948	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.11	3.25	0.37280	.	1.324970	0.05455	U	0.550158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-33.8448	10.9581	0.47368	0.1302:0.4581:0.4117:0.0	.	.	.	.	X	817;204;792	.	ENSP00000220847:Q204X	Q	+	1	0	PHF20L1	133924003	0.864000	0.29904	0.897000	0.35233	0.946000	0.59487	1.204000	0.32296	0.614000	0.30107	0.650000	0.86243	CAA		PASS	0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		24	37	24	37	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614580	135614580	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:135614580G>A	ENST00000377838.3	-	6	1556	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	ZFAT_ENST00000523399.1_Missense_Mutation_p.A399V|ZFAT_ENST00000520727.1_Missense_Mutation_p.A449V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A449V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A449V|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.A449V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	461					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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.A449V(1)|p.A461V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCGGCAGACGGCACAGACGTA	0.602																																						uc003yup.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1381-1383)GCC>GTC		zinc finger protein 406 isoform ZFAT-1							45.0	47.0	46.0					8																	135614580		2105	4225	6330	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614580G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1382C>T	8.37:g.135614580G>A	ENSP00000367069:p.Ala461Val					ZFAT_uc003yun.2_Missense_Mutation_p.A449V|ZFAT_uc003yuo.2_Missense_Mutation_p.A449V|ZFAT_uc010meh.2_Missense_Mutation_p.A449V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A449V|ZFAT_uc010mej.2_Missense_Mutation_p.A399V|ZFAT_uc003yur.2_Missense_Mutation_p.A449V	p.A461V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1557	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		461			C2H2-type 9.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.1382C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711386	0.68730	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.9	5.9	0.94986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.354191	0.30584	N	0.009311	T	0.15435	0.0372	N	0.20881	0.62	0.32414	N	0.550279	D;P;P;P	0.53462	0.96;0.951;0.787;0.801	P;P;B;B	0.58660	0.761;0.843;0.298;0.346	T	0.02184	-1.1199	10	0.30854	T	0.27	-13.188	19.2604	0.93966	0.0:0.0:1.0:0.0	.	399;449;449;461	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	449;449;449;461;449;399;449	ENSP00000427879:A449V;ENSP00000427831:A449V;ENSP00000394501:A449V;ENSP00000367069:A461V;ENSP00000428483:A449V;ENSP00000429091:A399V	ENSP00000367069:A461V	A	-	2	0	ZFAT	135683762	0.945000	0.32115	0.477000	0.27303	0.802000	0.45316	4.314000	0.59166	2.793000	0.96121	0.563000	0.77884	GCC		PASS	0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		10	30	10	30	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136533515	136533515	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:136533515G>A	ENST00000355849.5	+	2	534	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.E15K	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	42					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E42K(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGGCAAGGATGAAGAAAAGTA	0.408																																						uc003yuv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(124-126)GAA>AAA		KH domain containing, RNA binding, signal							146.0	140.0	142.0					8																	136533515		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136533515G>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.124G>A	8.37:g.136533515G>A	ENSP00000348108:p.Glu42Lys					KHDRBS3_uc003yuw.2_Missense_Mutation_p.E42K	p.E42K	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		2	518	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		42					Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.124G>A	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241075	0.58995	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000520981;ENST00000517394	T;T;T;T	0.48201	2.24;2.24;0.82;2.24	5.81	5.81	0.92471	.	0.092101	0.85682	D	0.000000	T	0.47581	0.1453	L	0.45698	1.435	0.34817	D	0.738315	P;B	0.40794	0.729;0.203	B;B	0.40009	0.316;0.157	T	0.60409	-0.7269	10	0.54805	T	0.06	-27.6546	19.0525	0.93051	0.0:0.0:1.0:0.0	.	42;42	O75525-2;O75525	.;KHDR3_HUMAN	K	42;14;15;15	ENSP00000348108:E42K;ENSP00000431022:E14K;ENSP00000428607:E15K;ENSP00000430284:E15K	ENSP00000348108:E42K	E	+	1	0	KHDRBS3	136602697	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.396000	0.97270	2.737000	0.93849	0.650000	0.86243	GAA		PASS	0.408	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			38	79	38	79	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136561054	136561054	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:136561054C>T	ENST00000355849.5	+	4	792	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	128					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.H128Y(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TGATGATCTCCATGTTCTCAT	0.403																																						uc003yuv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(382-384)CAT>TAT		KH domain containing, RNA binding, signal							97.0	78.0	84.0					8																	136561054		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136561054C>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.382C>T	8.37:g.136561054C>T	ENSP00000348108:p.His128Tyr					KHDRBS3_uc003yuw.2_Missense_Mutation_p.H128Y	p.H128Y	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		4	776	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		128					Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.382C>T	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874653	0.91664	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.19250	2.16;2.16;2.16	5.91	5.91	0.95273	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.988	T	0.69698	-0.5075	10	0.87932	D	0	-29.4902	19.2892	0.94092	0.0:1.0:0.0:0.0	.	128;128	O75525-2;O75525	.;KHDR3_HUMAN	Y	128;100;101	ENSP00000348108:H128Y;ENSP00000431022:H100Y;ENSP00000430284:H101Y	ENSP00000348108:H128Y	H	+	1	0	KHDRBS3	136630236	1.000000	0.71417	0.850000	0.33497	0.952000	0.60782	7.818000	0.86416	2.804000	0.96469	0.650000	0.86243	CAT		PASS	0.403	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			9	15	9	15	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139144926	139144926	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:139144926C>T	ENST00000395297.1	-	20	4301	c.4131G>A	c.(4129-4131)ctG>ctA	p.L1377L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1377								p.L1377L(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)			CTCGGCCGATCAGGGTGTTGG	0.527										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(4129-4131)CTG>CTA		hypothetical protein LOC51059							197.0	209.0	205.0					8																	139144926		1965	4156	6121	SO:0001819	synonymous_variant	51059							g.chr8:139144926C>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.4131G>A	8.37:g.139144926C>T		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L1278L|FAM135B_uc003yuz.2_RNA	p.L1377L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4302	-	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)		1377					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.4131G>A	CCDS6375.2																																																																																				PASS	0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		39	83	39	83	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:139190891C>T	ENST00000395297.1	-	10	1086	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(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)			CAGGCCAGATCCTTGCTTATC	0.512										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(916-918)GAT>AAT		hypothetical protein LOC51059							144.0	141.0	142.0					8																	139190891		2046	4196	6242	SO:0001583	missense	51059							g.chr8:139190891C>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.916G>A	8.37:g.139190891C>T	ENSP00000378710:p.Asp306Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D207N|FAM135B_uc003yuz.2_RNA	p.D306N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1087	-	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)		306					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.916G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943925	0.73672	.	.	ENSG00000147724	ENST00000395297	T	0.67171	-0.25	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	L	0.28556	0.865	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.70281	-0.4915	10	0.32370	T	0.25	-21.5161	16.7244	0.85417	0.0:1.0:0.0:0.0	.	306	Q49AJ0	F135B_HUMAN	N	306	ENSP00000378710:D306N	ENSP00000276737:D306N	D	-	1	0	FAM135B	139260073	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	4.060000	0.57477	2.616000	0.88540	0.561000	0.74099	GAT		PASS	0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	36	20	36	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139263169	139263169	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:139263169G>A	ENST00000395297.1	-	6	627	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	153								p.P153S(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)			AACATGACCGGGACCTGGTGG	0.587										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(457-459)CCG>TCG		hypothetical protein LOC51059							132.0	145.0	141.0					8																	139263169		2102	4218	6320	SO:0001583	missense	51059							g.chr8:139263169G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.457C>T	8.37:g.139263169G>A	ENSP00000378710:p.Pro153Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P54S|FAM135B_uc003yuz.2_RNA	p.P153S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	628	-	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)		153					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.457C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	33	5.266455	0.95399	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.24538	1.85	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60449	-0.7261	10	0.87932	D	0	-18.4649	18.323	0.90244	0.0:0.0:1.0:0.0	.	153	Q49AJ0	F135B_HUMAN	S	153	ENSP00000378710:P153S	ENSP00000160713:P153S	P	-	1	0	FAM135B	139332351	1.000000	0.71417	0.979000	0.43373	0.909000	0.53808	9.869000	0.99810	2.587000	0.87381	0.561000	0.74099	CCG		PASS	0.587	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		40	75	40	75	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139696711	139696711	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:139696711C>T	ENST00000303045.6	-	39	3415	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.G990E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	990	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.G990E(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)			TCCACGGAGTCCCTGGAGAAA	0.537										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2968-2970)GGA>GAA		collagen, type XXII, alpha 1							96.0	99.0	98.0					8																	139696711		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139696711C>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.2968-1G>A	8.37:g.139696711C>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G290E	p.G990E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		39	3416	-	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)		990			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2969G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186197	0.38609	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99619	-6.28;-4.85	4.16	4.16	0.48862	.	0.000000	0.48286	U	0.000183	D	0.99725	0.9893	H	0.96916	3.905	0.48696	D	0.999697	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97354	0.9965	10	0.87932	D	0	.	11.8162	0.52211	0.0:1.0:0.0:0.0	.	990;990	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	E	990;990;703	ENSP00000303153:G990E;ENSP00000387655:G990E	ENSP00000303153:G990E	G	-	2	0	COL22A1	139765893	0.994000	0.37717	0.989000	0.46669	0.572000	0.35998	3.286000	0.51724	2.122000	0.65172	0.448000	0.29417	GGA		PASS	0.537	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Missense_Mutation	37	62	37	62	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142222527	142222527	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:142222527C>T	ENST00000024061.3	-	7	2224	c.1917G>A	c.(1915-1917)ggG>ggA	p.G639G	SLC45A4_ENST00000433583.2_Silent_p.G632G|SLC45A4_ENST00000517878.1_Silent_p.G690G|SLC45A4_ENST00000519067.1_Silent_p.G639G	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.G639G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCGGACAGTCCCCACGGCGT	0.612																																						uc003ywd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1915-1917)GGG>GGA		solute carrier family 45, member 4							70.0	71.0	71.0					8																	142222527		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142222527C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1917G>A	8.37:g.142222527C>T						SLC45A4_uc003ywc.1_Silent_p.G639G|SLC45A4_uc010meq.1_Silent_p.G637G	p.G639G	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2225	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		690					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.1917G>A	CCDS34948.1																																																																																				PASS	0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		19	31	19	31	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142238345	142238345	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:142238345G>A	ENST00000024061.3	-	1	328	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SLC45A4_ENST00000433583.2_Intron|SLC45A4_ENST00000517878.1_Intron|SLC45A4_ENST00000519067.1_Silent_p.A7A	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A7A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACAGCCCTGAGGCTGGGCTTG	0.547																																						uc003ywd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(19-21)GCC>GCT		solute carrier family 45, member 4							158.0	149.0	152.0					8																	142238345		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142238345G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.21C>T	8.37:g.142238345G>A						SLC45A4_uc003ywc.1_Silent_p.A7A|SLC45A4_uc010meq.1_Intron	p.A7A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		1	329	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		Error:Variant_position_missing_in_Q5BKX6_after_alignment					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.21C>T	CCDS34948.1																																																																																				PASS	0.547	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		34	44	34	44	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142506592	142506592	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:142506592G>A	ENST00000430863.1	-	0	170					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.P30P(1)									TGGAGACAGGGGGGGAGATTC	0.557																																						uc003ywi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)CCC>CCT		hypothetical protein LOC389690							47.0	52.0	50.0					8																	142506592		2036	4177	6213			389690						binding	g.chr8:142506592G>A			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506592G>A						FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	p.P30P	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	171	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		30						Silent	SNP	ENST00000430863.1	37	c.90C>T																																																																																					PASS	0.557	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		15	19	15	19	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143560703	143560703	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:143560703C>T	ENST00000517894.1	+	8	2475	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	BAI1_ENST00000323289.5_Silent_p.A527A			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	527	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A527A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGTGGCAGGCCTGGGCGTCAT	0.672																																						uc003ywm.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(1579-1581)GCC>GCT		brain-specific angiogenesis inhibitor 1							19.0	26.0	23.0					8																	143560703		2085	4208	6293	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143560703C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1581C>T	8.37:g.143560703C>T							p.A527A	NM_001702	NP_001693	O14514	BAI1_HUMAN			7	1764	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		527			Extracellular (Potential).|TSP type-1 5.			Silent	SNP	ENST00000517894.1	37	c.1581C>T																																																																																					PASS	0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		6	7	6	7	---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378708	144378708	+	Missense_Mutation	SNP	C	C	T	rs532360416		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:144378708C>T	ENST00000330143.3	+	3	1272	c.863C>T	c.(862-864)aCg>aTg	p.T288M		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	288					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.T288M(1)		lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGCGTGCACACGGGGGAGCGG	0.726																																						uc003yxy.3																			1	Substitution - Missense(1)		lung(1)		0						c.(862-864)ACG>ATG		zinc finger protein 696							13.0	17.0	16.0					8																	144378708		2192	4286	6478	SO:0001583	missense	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378708C>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.863C>T	8.37:g.144378708C>T	ENSP00000328515:p.Thr288Met						p.T288M	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	1272	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		288					A0AVE2	Missense_Mutation	SNP	ENST00000330143.3	37	c.863C>T	CCDS6399.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980751	0.53827	.	.	ENSG00000185730	ENST00000330143	T	0.26373	1.74	3.09	2.17	0.27698	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43809	0.1264	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.25047	-1.0143	8	.	.	.	.	5.6498	0.17610	0.2258:0.5538:0.2204:0.0	.	288	Q9H7X3	ZN696_HUMAN	M	288	ENSP00000328515:T288M	.	T	+	2	0	ZNF696	144450083	0.851000	0.29673	0.624000	0.29186	0.761000	0.43186	1.617000	0.36943	0.591000	0.29711	0.551000	0.68910	ACG		PASS	0.726	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		5	8	5	8	---	---	---	---
ZNF707	286075	broad.mit.edu	37	8	144773320	144773321	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:144773320_144773321CC>TT	ENST00000532205.1	+	6	992_993	c.93_94CC>TT	c.(91-96)gcCCtc>gcTTtc	p.L32F	ZNF707_ENST00000418203.2_Missense_Mutation_p.L32F|ZNF707_ENST00000442058.2_Missense_Mutation_p.L32F|ZNF707_ENST00000454097.1_Missense_Mutation_p.L32F|ZNF707_ENST00000532158.1_Missense_Mutation_p.L32F|ZNF707_ENST00000358656.4_Missense_Mutation_p.L32F			Q96C28	ZN707_HUMAN	zinc finger protein 707	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.L32F(2)|p.A31A(1)		breast(1)	1	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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGAGGGCCCTCTACCGGGA	0.624																																						uc003yze.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(1)	1						c.(91-93)GCC>GCT|c.(94-96)CTC>TTC		zinc finger protein 707																																				SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144773320C>T|g.chr8:144773321C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		Exception_encountered	8.37:g.144773320_144773321delinsTT	ENSP00000436212:p.Leu32Phe					ZNF707_uc010mfh.2_Silent_p.A31A|ZNF707_uc010mfi.2_Silent_p.A31A|ZNF707_uc003yzf.3_Silent_p.A31A|ZNF707_uc003yzh.3_5'UTR|ZNF707_uc011lkq.1_Intron|ZNF707_uc010mfh.2_Missense_Mutation_p.L32F|ZNF707_uc010mfi.2_Missense_Mutation_p.L32F|ZNF707_uc003yzf.3_Missense_Mutation_p.L32F|ZNF707_uc003yzh.3_5'UTR|ZNF707_uc011lkq.1_Intron	p.A31A|p.L32F	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	408|409	+	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)		31|32			KRAB.		A8K317|B3KNY1|D3DWK7	Silent|Missense_Mutation	SNP	ENST00000532205.1	37	c.93C>T|c.94C>T	CCDS47932.1																																																																																				PASS	0.624	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		13	20|21	13	20	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144890812	144890812	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:144890812C>T	ENST00000320476.3	-	15	2088	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	SCRIB_ENST00000377533.3_Silent_p.K613K|SCRIB_ENST00000356994.2_Silent_p.K694K	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	694	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.K694K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGCCCCCTCCTTGTCCTCCT	0.637																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - coding silent(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(2080-2082)AAG>AAA		scribble isoform b							145.0	125.0	132.0					8																	144890812		2203	4300	6503	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144890812C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2082G>A	8.37:g.144890812C>T						SCRIB_uc003yzo.1_Silent_p.K694K	p.K694K	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	2089	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		694			Potential.|Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.2082G>A	CCDS6411.1																																																																																				PASS	0.637	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		11	13	11	13	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940426	144940426	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:144940426C>T	ENST00000525985.1	-	2	7067	c.6996G>A	c.(6994-6996)cgG>cgA	p.R2332R				P58107	EPIPL_HUMAN	epiplakin 1	2332						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R2332R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCGTGCTCCCGGACGATGA	0.711																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(15004-15006)CGG>CGA		epiplakin 1							175.0	175.0	175.0					8																	144940426		2158	4245	6403	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940426C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6996G>A	8.37:g.144940426C>T							p.R5002R	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15019	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5002			Plectin 63.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.15006G>A																																																																																					PASS	0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	158	9	158	---	---	---	---
MAF1	84232	broad.mit.edu	37	8	145160625	145160625	+	Silent	SNP	C	C	T	rs139701481		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:145160625C>T	ENST00000322428.5	+	2	443	c.39C>T	c.(37-39)aaC>aaT	p.N13N	SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000534585.1_Silent_p.N13N|SHARPIN_ENST00000398712.2_5'Flank|KIAA1875_ENST00000323662.8_5'Flank|MAF1_ENST00000532522.1_Silent_p.N13N	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	13					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)	p.N13N(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCCATCAACTCACAGCTGA	0.582																																						uc003zbc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)AAC>AAT		MAF1 protein		C		1,4405	2.1+/-5.4	0,1,2202	87.0	80.0	82.0		39	3.6	1.0	8	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	MAF1	NM_032272.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		13/257	145160625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145160625C>T		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.39C>T	8.37:g.145160625C>T						SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank	p.N13N	NM_032272	NP_115648	Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	540	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		13					D3DWL4	Silent	SNP	ENST00000322428.5	37	c.39C>T	CCDS6416.1																																																																																				PASS	0.582	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		11	57	11	57	---	---	---	---
FBXL6	26233	broad.mit.edu	37	8	145579815	145579815	+	Missense_Mutation	SNP	C	C	T	rs368713370		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:145579815C>T	ENST00000331890.5	-	8	1349	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	FBXL6_ENST00000455319.2_Missense_Mutation_p.E423K|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000526524.1_Intron|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	429					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)	p.E429K(1)		endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGGCTGCCCTCCTTGGCTAGA	0.577																																						uc003zcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1285-1287)GAG>AAG		F-box and leucine-rich repeat protein 6 isoform							64.0	70.0	68.0					8																	145579815		2203	4299	6502	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579815C>T	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1285G>A	8.37:g.145579815C>T	ENSP00000330098:p.Glu429Lys					C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.E156K|FBXL6_uc003zca.2_Missense_Mutation_p.E423K|FBXL6_uc010mfx.2_Missense_Mutation_p.E190K|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.E429K	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1310	-	all_cancers(97;6.64e-12)|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)		429			LRR 9.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1285G>A	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447508	0.43429	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.23754	5.49;1.89	5.13	3.32	0.38043	.	0.486557	0.20460	N	0.091912	T	0.11452	0.0279	N	0.04959	-0.14	0.27828	N	0.941554	B;B	0.11235	0.002;0.004	B;B	0.08055	0.001;0.003	T	0.12760	-1.0535	10	0.41790	T	0.15	-0.6509	6.9926	0.24763	0.0:0.7966:0.0:0.2034	.	429;423	Q8N531;Q8N531-2	FBXL6_HUMAN;.	K	423;429	ENSP00000403873:E423K;ENSP00000330098:E429K	ENSP00000330098:E429K	E	-	1	0	FBXL6	145550623	0.208000	0.23494	1.000000	0.80357	0.989000	0.77384	0.485000	0.22324	1.140000	0.42260	0.563000	0.77884	GAG		PASS	0.577	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		23	45	23	45	---	---	---	---
VPS28	51160	broad.mit.edu	37	8	145649603	145649603	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:145649603C>T	ENST00000526054.1	-	7	488	c.451G>A	c.(451-453)Gat>Aat	p.D151N	VPS28_ENST00000292510.4_Missense_Mutation_p.D151N|VPS28_ENST00000377348.2_Missense_Mutation_p.D151N|VPS28_ENST00000529182.1_Missense_Mutation_p.D151N|VPS28_ENST00000526734.1_5'Flank			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	151	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D151N(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCACCTCATCCATGGCGCGG	0.682																																						uc003zcr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(451-453)GAT>AAT		vacuolar protein sorting 28 isoform 1							56.0	56.0	56.0					8																	145649603		2203	4300	6503	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649603C>T	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.451G>A	8.37:g.145649603C>T	ENSP00000434064:p.Asp151Asn					VPS28_uc003zcs.1_Missense_Mutation_p.D151N|VPS28_uc003zct.1_Missense_Mutation_p.D151N	p.D151N	NM_016208	NP_057292	Q9UK41	VPS28_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)		7	504	-	all_cancers(97;6.64e-12)|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)		151			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.451G>A	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.666542	0.88251	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032	.	.	.	5.06	5.06	0.68205	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.050269	0.85682	D	0.000000	D	0.86125	0.5858	H	0.95884	3.735	0.80722	D	1	P;B	0.37038	0.579;0.245	P;B	0.48840	0.592;0.29	D	0.89629	0.3854	9	0.87932	D	0	.	15.9131	0.79488	0.0:1.0:0.0:0.0	.	151;151	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	N	151;151;151;151;134;151	.	ENSP00000292510:D151N	D	-	1	0	VPS28	145620411	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.254000	0.78329	2.329000	0.79093	0.655000	0.94253	GAT		PASS	0.682	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			10	18	10	18	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145666202	145666202	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:145666202G>A	ENST00000409379.3	-	9	1092	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	355					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.H196Y(1)|p.H355Y(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGGACACGTGGATGATGGCC	0.667																																						uc011llg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1063-1065)CAC>TAC		NF-kappa-B inhibitor-like protein 2							70.0	63.0	65.0					8																	145666202		2203	4300	6503	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.chr8:145666202G>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.1063C>T	8.37:g.145666202G>A	ENSP00000386239:p.His355Tyr						p.H355Y	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)		9	1078	-	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)		355			TPR 8.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1063C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409994	0.42715	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.56275	0.47	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.096096	0.64402	D	0.000001	T	0.64583	0.2611	L	0.46157	1.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.60016	-0.7345	10	0.25106	T	0.35	-24.9237	15.3516	0.74393	0.0:0.0:1.0:0.0	.	355	Q96HA7	TONSL_HUMAN	Y	355	ENSP00000386239:H355Y	ENSP00000386239:H355Y	H	-	1	0	TONSL	145637010	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	7.130000	0.77235	2.230000	0.72887	0.491000	0.48974	CAC		PASS	0.667	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		13	29	13	29	---	---	---	---
ZNF517	340385	broad.mit.edu	37	8	146032912	146032912	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:146032912C>T	ENST00000531720.1	+	4	656	c.611C>T	c.(610-612)cCc>cTc	p.P204L	ZNF517_ENST00000359971.3_Missense_Mutation_p.P204L|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	204					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.P204L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGCGCCAAGCCCTTCCAGTGC	0.627																																						uc003zed.1																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)CCC>CTC		zinc finger protein 517							29.0	27.0	28.0					8																	146032912		2193	4299	6492	SO:0001583	missense	340385				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146032912C>T	AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.611C>T	8.37:g.146032912C>T	ENSP00000436103:p.Pro204Leu					ZNF517_uc010mgd.1_Missense_Mutation_p.P110L|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.P110L|ZNF517_uc003zef.1_Intron	p.P204L	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		5	718	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		204						Missense_Mutation	SNP	ENST00000531720.1	37	c.611C>T	CCDS6434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.55|18.55	3.647715|3.647715	0.67358|0.67358	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|T	0.27557|0.28454	1.66;1.66|1.61	2.7|2.7	1.79|1.79	0.24919|0.24919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.43787|0.43787	0.1263|0.1263	M|M	0.75884|0.75884	2.315|2.315	0.39780|0.39780	D|D	0.972288|0.972288	P|.	0.50617|.	0.937|.	P|.	0.49683|.	0.619|.	T|T	0.41752|0.41752	-0.9491|-0.9491	9|7	0.56958|0.59425	D|D	0.05|0.04	.|.	8.6534|8.6534	0.34049|0.34049	0.0:0.8741:0.0:0.1259|0.0:0.8741:0.0:0.1259	.|.	204|.	Q6ZMY9|.	ZN517_HUMAN|.	L|S	204|171	ENSP00000353058:P204L;ENSP00000436103:P204L|ENSP00000432025:P171S	ENSP00000353058:P204L|ENSP00000432025:P171S	P|P	+|+	2|1	0|0	ZNF517|ZNF517	146003716|146003716	0.995000|0.995000	0.38212|0.38212	0.987000|0.987000	0.45799|0.45799	0.789000|0.789000	0.44602|0.44602	3.639000|3.639000	0.54339|0.54339	0.446000|0.446000	0.26666|0.26666	0.462000|0.462000	0.41574|0.41574	CCC|CCT		PASS	0.627	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382642.1	XM_291261		3	9	3	9	---	---	---	---
ZNF16	7564	broad.mit.edu	37	8	146157806	146157806	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr8:146157806C>A	ENST00000276816.4	-	4	553	c.367G>T	c.(367-369)Ggc>Tgc	p.G123C	ZNF16_ENST00000394909.2_Missense_Mutation_p.G123C	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	123	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.G123C(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGCCTCCTGCCTTCGGGGACT	0.552																																						uc003zet.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(367-369)GGC>TGC		zinc finger protein 16							75.0	79.0	78.0					8																	146157806		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157806C>A	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.367G>T	8.37:g.146157806C>A	ENSP00000276816:p.Gly123Cys					ZNF16_uc003zeu.2_Missense_Mutation_p.G123C	p.G123C	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	554	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	123					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.367G>T	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717953	0.30413	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.65732	2.89;2.89;4.49;-0.17	4.17	1.15	0.20763	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.40741	0.339	T	0.21861	-1.0233	9	0.59425	D	0.04	.	4.9306	0.13916	0.0:0.6084:0.1741:0.2175	.	123	P17020	ZNF16_HUMAN	C	123	ENSP00000276816:G123C;ENSP00000378369:G123C;ENSP00000434321:G123C;ENSP00000432755:G123C	ENSP00000276816:G123C	G	-	1	0	ZNF16	146128610	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	1.023000	0.30065	0.022000	0.15160	0.563000	0.77884	GGC		PASS	0.552	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		28	46	28	46	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	439280	439280	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:439280C>T	ENST00000453981.1	+	40	5227	c.5115C>T	c.(5113-5115)gtC>gtT	p.V1705V	DOCK8_ENST00000382329.1_Silent_p.V1172V|DOCK8_ENST00000432829.2_Silent_p.V1637V|DOCK8_ENST00000469391.1_Silent_p.V1605V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1705	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1705V(1)|p.V1637V(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTCTGTGGTCTCTGAGGACA	0.567																																						uc003zgf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(5113-5115)GTC>GTT		dedicator of cytokinesis 8							104.0	97.0	99.0					9																	439280		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439280C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5115C>T	9.37:g.439280C>T						DOCK8_uc010mgu.2_Silent_p.V1007V|DOCK8_uc010mgv.2_Silent_p.V1605V|DOCK8_uc003zgk.2_Silent_p.V1163V	p.V1705V	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	40	5227	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1705			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.5115C>T	CCDS6440.2																																																																																				PASS	0.567	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		16	11	16	11	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5753603	5753603	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:5753603C>T	ENST00000414202.2	+	14	1750	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	KIAA1432_ENST00000449720.2_Intron|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S441F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S441F|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S520F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.S441F(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCACATTACTCTTTACTCACC	0.303																																						uc003zji.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)TCT>TTT		connexin 43-interacting protein 150 isoform a							94.0	95.0	94.0					9																	5753603		2202	4297	6499	SO:0001583	missense	57589					integral to membrane		g.chr9:5753603C>T																												ENST00000414202.2:c.1559C>T	9.37:g.5753603C>T	ENSP00000416696:p.Ser520Phe					KIAA1432_uc003zjh.2_Missense_Mutation_p.S441F|KIAA1432_uc003zjl.3_Intron|KIAA1432_uc003zjj.1_Intron	p.S441F	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	13	1415	+		Acute lymphoblastic leukemia(23;0.154)	520						Missense_Mutation	SNP	ENST00000414202.2	37	c.1322C>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042012	0.93685	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.83012	2.62	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.59487	0.823;0.858	T	0.74028	-0.3796	10	0.72032	D	0.01	-16.0755	19.8481	0.96728	0.0:1.0:0.0:0.0	.	520;520	Q4ADV7;G5E932	RIC1_HUMAN;.	F	520;520;441;441	ENSP00000251879:S520F;ENSP00000416696:S520F;ENSP00000370943:S441F;ENSP00000402240:S441F	ENSP00000251879:S520F	S	+	2	0	KIAA1432	5743603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.235000	0.78143	2.705000	0.92388	0.650000	0.86243	TCT		PASS	0.303	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			6	13	6	13	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5920369	5920369	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:5920369A>G	ENST00000399933.3	-	8	5626	c.5627T>C	c.(5626-5628)aTa>aCa	p.I1876T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.I1846T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1876								p.I1876T(1)|p.I1051T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTGATGACTATTTTTTGCTG	0.473																																						uc003zjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(5626-5628)ATA>ACA		hypothetical protein LOC158358							178.0	180.0	179.0					9																	5920369		1979	4170	6149	SO:0001583	missense	158358							g.chr9:5920369A>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5627T>C	9.37:g.5920369A>G	ENSP00000382815:p.Ile1876Thr					KIAA2026_uc010mht.2_Missense_Mutation_p.I1051T	p.I1876T	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5843	-		Acute lymphoblastic leukemia(23;0.158)	1876					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.5627T>C		.	.	.	.	.	.	.	.	.	.	A	17.40	3.380533	0.61845	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.83	5.83	0.93111	.	0.250038	0.32190	N	0.006450	T	0.77698	0.4169	M	0.73598	2.24	0.37477	D	0.915832	D	0.89917	1.0	D	0.74348	0.983	T	0.78084	-0.2342	9	0.25751	T	0.34	-11.174	16.2127	0.82178	1.0:0.0:0.0:0.0	.	1876	Q5HYC2	K2026_HUMAN	T	1876;1846	.	ENSP00000370870:I1846T	I	-	2	0	KIAA2026	5910369	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.779000	0.91792	2.236000	0.73375	0.533000	0.62120	ATA		PASS	0.473	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		77	65	77	65	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8486186	8486186	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:8486186T>C	ENST00000381196.4	-	25	3174	c.2631A>G	c.(2629-2631)gaA>gaG	p.E877E	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Silent_p.E864E|PTPRD_ENST00000358503.5_Silent_p.E855E|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.E877E|PTPRD_ENST00000540109.1_Silent_p.E877E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	877	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E877E(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAAAGTGATCTTCTTTTTCAG	0.488										TSP Lung(15;0.13)																												uc003zkk.2																			1	Substitution - coding silent(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2629-2631)GAA>GAG		protein tyrosine phosphatase, receptor type, D							95.0	91.0	93.0					9																	8486186		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8486186T>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2631A>G	9.37:g.8486186T>C		TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.E868E|PTPRD_uc003zkm.2_Silent_p.E864E|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.E877E	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	27	3342	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	877			Fibronectin type-III 6.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2631A>G	CCDS43786.1																																																																																				PASS	0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	9	13	9	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8500786	8500786	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:8500786C>T	ENST00000381196.4	-	21	2639	c.2096G>A	c.(2095-2097)aGc>aAc	p.S699N	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S686N|PTPRD_ENST00000358503.5_Missense_Mutation_p.S686N|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S699N|PTPRD_ENST00000540109.1_Missense_Mutation_p.S699N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	699	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S699N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACGGACAAGCTCTCAGGGCC	0.493										TSP Lung(15;0.13)																												uc003zkk.2																			1	Substitution - Missense(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2095-2097)AGC>AAC		protein tyrosine phosphatase, receptor type, D							201.0	181.0	188.0					9																	8500786		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8500786C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2096G>A	9.37:g.8500786C>T	ENSP00000370593:p.Ser699Asn	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.S699N|PTPRD_uc003zkm.2_Missense_Mutation_p.S686N|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.S699N	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	23	2807	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	699			Fibronectin type-III 4.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2096G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526078	0.85600	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	H	0.98664	4.295	0.80722	D	1	D;D;D	0.71674	0.998;0.991;0.998	D;D;D	0.78314	0.984;0.988;0.991	D	0.93962	0.7241	9	.	.	.	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	686;699;699	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	N	699;699;686;686;699	ENSP00000370593:S699N;ENSP00000348812:S699N;ENSP00000353187:S686N;ENSP00000351293:S686N;ENSP00000438164:S699N	.	S	-	2	0	PTPRD	8490786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.746000	0.94184	0.563000	0.77884	AGC		PASS	0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			22	28	22	28	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12708128	12708128	+	Missense_Mutation	SNP	G	G	A	rs373409941		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:12708128G>A	ENST00000388918.5	+	7	1522	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	TYRP1_ENST00000381137.2_Missense_Mutation_p.E174K|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381136.2_Missense_Mutation_p.E175K	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	465					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E465K(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATACACTTATGAAATTCAATG	0.378									Oculocutaneous Albinism																													uc003zkv.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1393-1395)GAA>AAA		tyrosinase-related protein 1 precursor		G	LYS/GLU	0,4404		0,0,2202	83.0	84.0	84.0		1393	5.7	1.0	9		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	TYRP1	NM_000550.2	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	465/538	12708128	1,13003	2202	4300	6502	SO:0001583	missense	7306	Oculocutaneous_Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12708128G>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1393G>A	9.37:g.12708128G>A	ENSP00000373570:p.Glu465Lys						p.E465K	NM_000550	NP_000541	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	7	1571	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	465			Lumenal, melanosome (Potential).		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1393G>A	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910589	0.92107	0.0	1.16E-4	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98901	-5.22;-5.22;-5.22	5.68	5.68	0.88126	Uncharacterised domain, di-copper centre (2);	0.043140	0.85682	D	0.000000	D	0.98861	0.9615	M	0.82056	2.57	0.80722	D	1	D	0.54772	0.968	P	0.55303	0.773	D	0.99331	1.0909	10	0.49607	T	0.09	-10.0808	19.7908	0.96456	0.0:0.0:1.0:0.0	.	465	P17643	TYRP1_HUMAN	K	174;465;175	ENSP00000370529:E174K;ENSP00000373570:E465K;ENSP00000370528:E175K	ENSP00000370528:E175K	E	+	1	0	TYRP1	12698128	1.000000	0.71417	0.996000	0.52242	0.733000	0.41908	6.392000	0.73213	2.682000	0.91365	0.591000	0.81541	GAA		PASS	0.378	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		11	16	11	16	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14868822	14868822	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:14868822G>A	ENST00000380880.3	-	2	937	c.154C>T	c.(154-156)Cct>Tct	p.P52S	FREM1_ENST00000422223.2_Missense_Mutation_p.P52S|FREM1_ENST00000380881.4_Missense_Mutation_p.P52S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	52					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P52S(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCTCTTTAGGGATGGCAAAC	0.537																																						uc003zlm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(154-156)CCT>TCT		FRAS1 related extracellular matrix 1 precursor							50.0	52.0	51.0					9																	14868822		1975	4175	6150	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14868822G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.154C>T	9.37:g.14868822G>A	ENSP00000370262:p.Pro52Ser					FREM1_uc010mic.2_RNA	p.P52S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	2	744	-			52					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.154C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078933	0.55753	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10192	2.9;2.9;2.9	5.49	4.59	0.56863	.	0.053341	0.85682	D	0.000000	T	0.14743	0.0356	M	0.78916	2.43	0.50467	D	0.999877	P	0.41929	0.765	B	0.38194	0.267	T	0.11767	-1.0574	10	0.07644	T	0.81	-9.4722	16.3463	0.83134	0.0:0.1321:0.8679:0.0	.	52	Q5H8C1	FREM1_HUMAN	S	52	ENSP00000370263:P52S;ENSP00000412940:P52S;ENSP00000370262:P52S	ENSP00000370257:P52S	P	-	1	0	FREM1	14858822	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.320000	0.79064	1.312000	0.45043	0.655000	0.94253	CCT		PASS	0.537	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		5	7	5	7	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16419455	16419455	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:16419455G>A	ENST00000380672.4	-	7	2889	c.2832C>T	c.(2830-2832)tcC>tcT	p.S944S	BNC2_ENST00000545497.1_Silent_p.S849S|BNC2_ENST00000380667.2_Silent_p.S877S	NM_017637.5	NP_060107.3			basonuclin 2									p.S944S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGTTCAGGTGGGAGTCTTCAG	0.572																																						uc003zml.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2830-2832)TCC>TCT		basonuclin 2							89.0	86.0	87.0					9																	16419455		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419455G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2832C>T	9.37:g.16419455G>A						BNC2_uc011lmw.1_Silent_p.S849S|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.S731S	p.S944S	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	2972	-			944						Silent	SNP	ENST00000380672.4	37	c.2832C>T	CCDS6482.2																																																																																				PASS	0.572	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		17	15	17	15	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18681849	18681849	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:18681849G>A	ENST00000380548.4	+	12	1720	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V461I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V461I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	461	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V461I(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATACCGTGTGGTCCTCTGCAT	0.502																																						uc003zne.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(1381-1383)GTC>ATC		ADAMTS-like 1 isoform 4 precursor							207.0	192.0	197.0					9																	18681849		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18681849G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1381G>A	9.37:g.18681849G>A	ENSP00000369921:p.Val461Ile					ADAMTSL1_uc003znc.3_Missense_Mutation_p.V461I	p.V461I	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	12	1508	+			461			TSP type-1 3.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1381G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836375	0.97009	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000276935	T;T;T	0.54071	0.59;0.59;0.59	5.71	5.71	0.89125	.	.	.	.	.	T	0.71169	0.3308	M	0.72479	2.2	0.80722	D	1	D	0.57899	0.981	P	0.61070	0.883	T	0.71351	-0.4619	9	0.59425	D	0.04	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	461	Q8N6G6	ATL1_HUMAN	I	461	ENSP00000369921:V461I;ENSP00000327887:V461I;ENSP00000276935:V461I	ENSP00000276935:V461I	V	+	1	0	ADAMTSL1	18671849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.710000	0.98732	2.861000	0.98227	0.650000	0.86243	GTC		PASS	0.502	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			70	70	70	70	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19325943	19325943	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:19325943C>T	ENST00000380432.2	+	10	1285	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	DENND4C_ENST00000602925.1_Missense_Mutation_p.P654S|DENND4C_ENST00000434457.2_Missense_Mutation_p.P654S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	418					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P418S(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTAGTTGTTTCCTGATAAAGG	0.279																																						uc003znq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1252-1254)CCT>TCT		DENN/MADD domain containing 4C							48.0	57.0	54.0					9																	19325943		2195	4295	6490	SO:0001583	missense	55667					integral to membrane		g.chr9:19325943C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1252C>T	9.37:g.19325943C>T	ENSP00000369797:p.Pro418Ser					DENND4C_uc011lnc.1_5'UTR	p.P418S	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			10	1285	+			418					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1252C>T		.	.	.	.	.	.	.	.	.	.	C	11.79	1.743883	0.30865	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.68	4.68	0.58851	.	1.859200	0.01972	N	0.044163	T	0.39784	0.1091	L	0.28192	0.835	0.80722	D	1	P	0.37122	0.583	B	0.29440	0.102	T	0.33033	-0.9884	9	0.10636	T	0.68	-16.4518	12.0231	0.53354	0.1731:0.8269:0.0:0.0	.	418	Q5VZ89	DEN4C_HUMAN	S	418	.	ENSP00000369802:P418S	P	+	1	0	DENND4C	19315943	0.980000	0.34600	1.000000	0.80357	0.910000	0.53928	0.533000	0.23082	2.577000	0.86979	0.563000	0.77884	CCT		PASS	0.279	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		14	18	14	18	---	---	---	---
IFNA10	3446	broad.mit.edu	37	9	21206665	21206665	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:21206665C>T	ENST00000357374.2	-	1	477	c.432G>A	c.(430-432)agG>agA	p.R144R		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	144					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.R144R(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGAAGTATTTCCTCACAGCCA	0.463																																						uc003zoq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(430-432)AGG>AGA		interferon, alpha 10 precursor							159.0	165.0	163.0					9																	21206665		2203	4300	6503	SO:0001819	synonymous_variant	3446				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21206665C>T		CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.432G>A	9.37:g.21206665C>T						IFNA14_uc003zoo.1_Intron	p.R144R	NM_002171	NP_002162	P01566	IFN10_HUMAN		Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)	1	478	-			144					Q5VV13	Silent	SNP	ENST00000357374.2	37	c.432G>A	CCDS6499.1																																																																																				PASS	0.463	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171		69	62	69	62	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631621	32631621	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:32631621C>T	ENST00000242310.4	-	1	4046	c.3957G>A	c.(3955-3957)gaG>gaA	p.E1319E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1319					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.E1319E(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAACTCCTCCTCCTGCTCTT	0.423																																						uc003zrg.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(3955-3957)GAG>GAA		TBP-associated factor RNA polymerase 1-like							219.0	220.0	220.0					9																	32631621		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631621C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3957G>A	9.37:g.32631621C>T						uc003zrh.1_5'Flank	p.E1319E	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4047	-			1319					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.3957G>A	CCDS35003.1																																																																																				PASS	0.423	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			63	50	63	50	---	---	---	---
BAG1	573	broad.mit.edu	37	9	33256816	33256816	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:33256816C>T	ENST00000379704.2	-	5	956	c.523G>A	c.(523-525)Gag>Aag	p.E175K	BAG1_ENST00000472232.3_Missense_Mutation_p.E290K|BAG1_ENST00000467389.2_5'UTR			Q99933	BAG1_HUMAN	BCL2-associated athanogene	290	Interaction with HSPA8.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E290K(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCAATCTCCTCCAAGATCTTC	0.398																																					GBM(77;1066 1502 5858 12192)	uc003zsj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)GAG>AAG		BCL2-associated athanogene isoform 1L							163.0	145.0	151.0					9																	33256816		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33256816C>T	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.523G>A	9.37:g.33256816C>T	ENSP00000369026:p.Glu175Lys					SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E152K|BAG1_uc003zsk.2_Missense_Mutation_p.E116K	p.E290K	NM_004323	NP_004314	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		5	957	-			290			Interaction with PPP1R15A.|BAG.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.868G>A	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985823	0.93044	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704	D;D	0.88818	-2.43;-2.43	5.32	5.32	0.75619	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.92667	0.6146	9	.	.	.	-20.6083	16.5466	0.84448	0.0:1.0:0.0:0.0	.	219;290	Q99933-3;Q99933	.;BAG1_HUMAN	K	290;175;175	ENSP00000420514:E290K;ENSP00000369026:E175K	.	E	-	1	0	BAG1	33246816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.854000	0.75440	2.773000	0.95371	0.655000	0.94253	GAG		PASS	0.398	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		20	29	20	29	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34513163	34513163	+	Missense_Mutation	SNP	G	G	A	rs79833450		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:34513163G>A	ENST00000242317.4	+	16	1714	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	515			G -> S (in KTGS). {ECO:0000269|PubMed:11231901}.		cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.G515S(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTTCCTAGTGGGCACAGAGGA	0.537									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM011938	DNAI1	M	rs79833450	c.(1543-1545)GGC>AGC		dynein, axonemal, intermediate chain 1		G	SER/GLY	0,4406		0,0,2203	148.0	139.0	142.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1543	5.9	1.0	9	dbSNP_131	142	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAI1	NM_012144.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	515/700	34513163	1,13005	2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34513163G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1543G>A	9.37:g.34513163G>A	ENSP00000242317:p.Gly515Ser						p.G515S	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	16	1736	+	all_epithelial(49;0.244)		515		G -> S (in KTGS).			B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1543G>A	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.307315|5.307315	0.95629|0.95629	0.0|0.0	1.16E-4|1.16E-4	ENSG00000122735|ENSG00000122735	ENST00000379040;ENST00000242317|ENST00000442556	T|.	0.75821|.	-0.97|.	5.95|5.95	5.95|5.95	0.96441|0.96441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87220|.	0.6123|.	H|H	0.95504|0.95504	3.68|3.68	0.80722|0.80722	A|A	1|1	D|.	0.63046|.	0.992|.	D|.	0.78314|.	0.991|.	D|.	0.90227|.	0.4276|.	9|.	0.87932|.	D|.	0|.	.|.	15.8933|15.8933	0.79318|0.79318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs28939369|rs28939369	515|.	Q9UI46|.	DNAI1_HUMAN|.	S|X	71;515|18	ENSP00000242317:G515S|.	ENSP00000242317:G515S|.	G|W	+|+	1|3	0|0	DNAI1|DNAI1	34503163|34503163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.589000|8.589000	0.90817|0.90817	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.537	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			38	59	38	59	---	---	---	---
TESK1	7016	broad.mit.edu	37	9	35606845	35606845	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:35606845G>T	ENST00000336395.5	+	4	652	c.402G>T	c.(400-402)ggG>ggT	p.G134G	TESK1_ENST00000498522.1_3'UTR|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.G134G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATATGAATGGGGGGACATTGG	0.582																																						uc003zxa.2																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(400-402)GGG>GGT		testis-specific protein kinase 1							55.0	51.0	52.0					9																	35606845		2203	4300	6503	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35606845G>T	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.402G>T	9.37:g.35606845G>T						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.G2V	p.G134G	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	738	+			134			Protein kinase.		Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.402G>T	CCDS6580.1																																																																																				PASS	0.582	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		4	20	4	20	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35708459	35708459	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:35708459G>A	ENST00000314888.9	-	34	4702	c.4349C>T	c.(4348-4350)tCt>tTt	p.S1450F	TLN1_ENST00000464379.1_5'Flank|TLN1_ENST00000540444.1_Missense_Mutation_p.S1450F	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1450	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.S1450F(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATTGGGGTCAGAGACACCAAC	0.522																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4348-4350)TCT>TTT		talin 1							65.0	64.0	64.0					9																	35708459		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35708459G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4349C>T	9.37:g.35708459G>A	ENSP00000316029:p.Ser1450Phe						p.S1450F	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		34	4703	-	all_epithelial(49;0.167)		1450			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4349C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854525	0.91355	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.30714	1.52;1.52	5.06	5.06	0.68205	.	0.127037	0.56097	D	0.000031	T	0.59998	0.2235	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.67264	-0.5714	10	0.87932	D	0	-10.1772	18.4497	0.90699	0.0:0.0:1.0:0.0	.	1450	Q9Y490	TLN1_HUMAN	F	1450	ENSP00000316029:S1450F;ENSP00000442981:S1450F	ENSP00000316029:S1450F	S	-	2	0	TLN1	35698459	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.864000	0.99589	2.342000	0.79632	0.561000	0.74099	TCT		PASS	0.522	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		26	14	26	14	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	36923392	36923392	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:36923392C>A	ENST00000358127.4	-	7	944	c.870G>T	c.(868-870)ggG>ggT	p.G290G	PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377853.2_Silent_p.G290G|PAX5_ENST00000414447.1_Silent_p.G247G|PAX5_ENST00000446742.1_Silent_p.G224G|PAX5_ENST00000377847.2_Silent_p.G290G|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Silent_p.G182G|PAX5_ENST00000522003.1_Silent_p.G182G|PAX5_ENST00000520281.1_Silent_p.G247G|PAX5_ENST00000377852.2_Silent_p.G290G	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	290					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(23)|p.G290G(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GCACACTGCTCCCGATGTCAG	0.607			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	24	Unknown(23)|Substitution - coding silent(1)	p.?(23)	haematopoietic_and_lymphoid_tissue(23)|lung(1)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(868-870)GGG>GGT		paired box 5							56.0	59.0	58.0					9																	36923392		2203	4300	6503	SO:0001819	synonymous_variant	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36923392C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.870G>T	9.37:g.36923392C>A						PAX5_uc011lpt.1_Silent_p.G86G|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Silent_p.G290G|PAX5_uc011lpx.1_Silent_p.G224G|PAX5_uc011lpy.1_Silent_p.G182G|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.G247G|PAX5_uc011lqa.1_Silent_p.G182G|PAX5_uc010mlq.1_Intron|PAX5_uc011lqb.1_Intron|PAX5_uc010mlo.1_Silent_p.G290G|PAX5_uc010mlp.1_Silent_p.G290G|PAX5_uc011lqc.1_Silent_p.G247G|PAX5_uc010mlr.1_Intron	p.G290G	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	7	1318	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	290					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Silent	SNP	ENST00000358127.4	37	c.870G>T	CCDS6607.1																																																																																				PASS	0.607	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			5	11	5	11	---	---	---	---
PIP5K1B	8395	broad.mit.edu	37	9	71503934	71503934	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:71503934A>G	ENST00000265382.3	+	7	661	c.356A>G	c.(355-357)aAc>aGc	p.N119S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.N119S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	119	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.N119S(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GAACTGTCTAACCCTGGAGCC	0.388																																						uc004agu.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(355-357)AAC>AGC		phosphatidylinositol-4-phosphate 5-kinase, type							216.0	208.0	210.0					9																	71503934		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71503934A>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.356A>G	9.37:g.71503934A>G	ENSP00000265382:p.Asn119Ser					PIP5K1B_uc011lrq.1_Missense_Mutation_p.N119S|PIP5K1B_uc004agv.2_RNA	p.N119S	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	661	+			119			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.356A>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856817	0.51376	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000437200;ENST00000440050	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.44	5.44	0.79542	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	N	0.13168	0.305	0.80722	D	1	B	0.32862	0.387	B	0.31946	0.138	T	0.06391	-1.0829	10	0.48119	T	0.1	-13.7119	15.5032	0.75716	1.0:0.0:0.0:0.0	.	119	O14986	PI51B_HUMAN	S	119;119;119;66;119;119	ENSP00000438082:N119S;ENSP00000265382:N119S;ENSP00000398587:N119S;ENSP00000411477:N119S	ENSP00000265382:N119S	N	+	2	0	PIP5K1B	70693754	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.229000	0.95273	2.048000	0.60808	0.533000	0.62120	AAC		PASS	0.388	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		23	22	23	22	---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71864304	71864304	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:71864304C>T	ENST00000377245.4	+	20	3102	c.2894C>T	c.(2893-2895)cCc>cTc	p.P965L	TJP2_ENST00000539225.1_Missense_Mutation_p.P996L|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Intron|TJP2_ENST00000348208.4_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	965					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.P965L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATAAGGAAACCCAGCCCAGAG	0.522																																						uc004ahe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2893-2895)CCC>CTC		tight junction protein 2 (zona occludens 2)							37.0	31.0	33.0					9																	71864304		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71864304C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2894C>T	9.37:g.71864304C>T	ENSP00000366453:p.Pro965Leu					TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Intron|TJP2_uc011lrv.1_Missense_Mutation_p.P987L|TJP2_uc010mom.1_Intron	p.P965L	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			20	3094	+			965					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2894C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593396	0.46214	.	.	ENSG00000119139	ENST00000377245;ENST00000539225	T;T	0.08896	3.04;3.09	5.82	4.93	0.64822	.	0.534133	0.20315	N	0.094753	T	0.09468	0.0233	L	0.43152	1.355	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.13407	0.004;0.009	T	0.05402	-1.0887	10	0.66056	D	0.02	.	11.4119	0.49931	0.0:0.8451:0.0:0.1549	.	996;965	F5H301;Q9UDY2	.;ZO2_HUMAN	L	965;996	ENSP00000366453:P965L;ENSP00000438262:P996L	ENSP00000366453:P965L	P	+	2	0	TJP2	71054124	0.455000	0.25736	0.945000	0.38365	0.987000	0.75469	1.009000	0.29886	1.472000	0.48140	0.563000	0.77884	CCC		PASS	0.522	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		6	6	6	6	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73213401	73213401	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:73213401G>A	ENST00000377111.2	-	20	3189	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	TRPM3_ENST00000377105.1_Silent_p.I841I|TRPM3_ENST00000358082.3_Silent_p.I844I|TRPM3_ENST00000360823.2_Silent_p.I844I|TRPM3_ENST00000377110.3_Silent_p.I982I|TRPM3_ENST00000396285.1_Silent_p.I829I|TRPM3_ENST00000423814.3_Silent_p.I1009I|TRPM3_ENST00000396280.5_Silent_p.I831I|TRPM3_ENST00000408909.2_Silent_p.I841I|TRPM3_ENST00000396292.4_Silent_p.I854I|TRPM3_ENST00000377106.1_Silent_p.I854I|TRPM3_ENST00000357533.2_Silent_p.I986I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1007					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I982I(1)|p.I986I(1)|p.I854I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTAGGAGACGGATATACCAGT	0.453																																						uc004aid.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2944-2946)ATC>ATT		transient receptor potential cation channel,							133.0	128.0	130.0					9																	73213401		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73213401G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2946C>T	9.37:g.73213401G>A						TRPM3_uc004ahu.2_Silent_p.I812I|TRPM3_uc004ahv.2_Silent_p.I784I|TRPM3_uc004ahw.2_Silent_p.I854I|TRPM3_uc004ahx.2_Silent_p.I841I|TRPM3_uc004ahy.2_Silent_p.I844I|TRPM3_uc004ahz.2_Silent_p.I831I|TRPM3_uc004aia.2_Silent_p.I829I|TRPM3_uc004aib.2_Silent_p.I819I|TRPM3_uc004aic.2_Silent_p.I982I	p.I982I	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			20	3190	-			1007			Helical; (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2946C>T		.	.	.	.	.	.	.	.	.	.	G	9.493	1.101303	0.20632	.	.	ENSG00000083067	ENST00000396280	.	.	.	4.87	1.94	0.25998	.	.	.	.	.	T	0.51601	0.1684	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	-17.2825	4.7974	0.13279	0.3082:0.0:0.5562:0.1355	.	.	.	.	S	831	.	.	P	-	1	0	TRPM3	72403221	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.682000	0.25335	0.177000	0.19895	0.573000	0.79308	CCG		PASS	0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		52	38	52	38	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74332991	74332991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:74332991G>A	ENST00000377044.4	-	13	2811	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R758*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGATGAGGTCGAAATCTAGGG	0.338																																						uc011lsa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2272-2274)CGA>TGA		transmembrane protein 2 isoform a							67.0	69.0	69.0					9																	74332991		2203	4300	6503	SO:0001587	stop_gained	23670					integral to membrane		g.chr9:74332991G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2272C>T	9.37:g.74332991G>A	ENSP00000366243:p.Arg758*					TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_RNA	p.R758*	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	13	2812	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	758					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	c.2272C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	39	7.719769	0.98453	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	.	.	.	5.47	4.56	0.56223	.	0.053459	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4173	0.74980	0.0:0.0:0.8526:0.1474	.	.	.	.	X	758;695	.	ENSP00000366243:R758X	R	-	1	2	TMEM2	73522811	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.670000	0.54569	1.273000	0.44346	0.558000	0.71614	CGA		PASS	0.338	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		17	22	17	22	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74349793	74349793	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:74349793G>A	ENST00000377044.4	-	6	1861	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	441					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S441F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGGTACATGGAATAGTCTGT	0.438																																						uc011lsa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1321-1323)TCC>TTC		transmembrane protein 2 isoform a							219.0	203.0	208.0					9																	74349793		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74349793G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1322C>T	9.37:g.74349793G>A	ENSP00000366243:p.Ser441Phe					TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_RNA	p.S441F	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	6	1862	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	441					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1322C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272013	0.95429	.	.	ENSG00000135048	ENST00000377044	D	0.95588	-3.75	6.08	6.08	0.98989	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.97601	0.9214	M	0.80183	2.485	0.80722	D	1	D	0.58268	0.982	P	0.61328	0.887	D	0.97063	0.9772	10	0.52906	T	0.07	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	441	Q9UHN6	TMEM2_HUMAN	F	441	ENSP00000366243:S441F	ENSP00000366243:S441F	S	-	2	0	TMEM2	73539613	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.719000	0.98760	2.894000	0.99253	0.655000	0.94253	TCC		PASS	0.438	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		47	38	47	38	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75355088	75355088	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:75355088G>A	ENST00000297784.5	+	9	956	c.416G>A	c.(415-417)gGa>gAa	p.G139E	TMC1_ENST00000340019.3_Missense_Mutation_p.G139E|TMC1_ENST00000396237.3_Missense_Mutation_p.G139E	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	139	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.G139E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAAGGAAAAGGAAAACGGTGG	0.373																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(415-417)GGA>GAA		transmembrane channel-like 1							113.0	117.0	115.0					9																	75355088		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75355088G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.416G>A	9.37:g.75355088G>A	ENSP00000297784:p.Gly139Glu					TMC1_uc010moz.1_Missense_Mutation_p.G97E|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_5'UTR|TMC1_uc010mpa.1_5'UTR	p.G139E	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			9	956	+			139			Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.416G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552103	0.86127	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.49720	0.77;0.77;0.77	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.71871	2.18	0.52501	D	0.999952	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	T	0.59883	-0.7370	10	0.02654	T	1	-23.7793	15.1687	0.72850	0.0:0.0:1.0:0.0	.	106;139	A4FUA6;Q8TDI8	.;TMC1_HUMAN	E	139;139;106;106;106;133;139	ENSP00000297784:G139E;ENSP00000341433:G139E;ENSP00000379538:G139E	ENSP00000297784:G139E	G	+	2	0	TMC1	74544908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.639000	0.89480	0.655000	0.94253	GGA		PASS	0.373	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			12	9	12	9	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75387402	75387402	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:75387402G>A	ENST00000297784.5	+	13	1355	c.815G>A	c.(814-816)aGg>aAg	p.R272K	TMC1_ENST00000340019.3_Missense_Mutation_p.R272K|TMC1_ENST00000396237.3_Missense_Mutation_p.R272K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	272					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.R272K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGAATTTCAGGTTGCCGCTC	0.393																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)AGG>AAG		transmembrane channel-like 1							224.0	220.0	221.0					9																	75387402		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75387402G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.815G>A	9.37:g.75387402G>A	ENSP00000297784:p.Arg272Lys					TMC1_uc010moz.1_Missense_Mutation_p.R230K|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R126K|TMC1_uc010mpa.1_Missense_Mutation_p.R126K	p.R272K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			13	1355	+			272			Extracellular (Potential).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.815G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399239	0.96030	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.49139	0.79;0.79;0.79	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.76727	2.345	0.51012	D	0.999904	P;P;D	0.59767	0.943;0.943;0.986	P;P;P	0.56960	0.695;0.695;0.81	T	0.60255	-0.7299	10	0.28530	T	0.3	-23.2604	19.5228	0.95192	0.0:0.0:1.0:0.0	.	239;239;272	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	K	272;272;239;239;239;266;272	ENSP00000297784:R272K;ENSP00000341433:R272K;ENSP00000379538:R272K	ENSP00000297784:R272K	R	+	2	0	TMC1	74577222	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	8.983000	0.93477	2.770000	0.95276	0.650000	0.86243	AGG		PASS	0.393	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			51	36	51	36	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75420349	75420349	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:75420349C>T	ENST00000297784.5	+	18	2158	c.1618C>T	c.(1618-1620)Ctc>Ttc	p.L540F	TMC1_ENST00000340019.3_Missense_Mutation_p.L540F|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.L540F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	540					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.L540F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CGTCACAATCCTCATTGGGGA	0.403																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1618-1620)CTC>TTC		transmembrane channel-like 1							277.0	265.0	269.0					9																	75420349		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75420349C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1618C>T	9.37:g.75420349C>T	ENSP00000297784:p.Leu540Phe					TMC1_uc010moz.1_Missense_Mutation_p.L498F|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.L394F|TMC1_uc010mpa.1_Missense_Mutation_p.L394F	p.L540F	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			18	2158	+			540			Cytoplasmic (Potential).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1618C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523603	0.85600	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.66638	-0.22;-0.22;-0.22	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.39245	1.2	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68334	-0.5436	10	0.25106	T	0.35	-18.0543	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	507;507;540	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	F	540;540;507;507;507;534;540	ENSP00000297784:L540F;ENSP00000341433:L540F;ENSP00000379538:L540F	ENSP00000297784:L540F	L	+	1	0	TMC1	74610169	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.414000	0.44627	2.894000	0.99253	0.591000	0.81541	CTC		PASS	0.403	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			37	53	37	53	---	---	---	---
RORB	6096	broad.mit.edu	37	9	77249547	77249547	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:77249547G>A	ENST00000396204.2	+	3	127	c.127G>A	c.(127-129)Gga>Aga	p.G43R	RORB_ENST00000376896.3_Splice_Site_p.G32R			Q92753	RORB_HUMAN	RAR-related orphan receptor B	43					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G32R(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTCCCTCAAGGGATTCTTTAG	0.408																																						uc004aji.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(127-129)GGA>AGA		RAR-related orphan receptor B							35.0	35.0	35.0					9																	77249547		2203	4300	6503	SO:0001630	splice_region_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77249547G>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.127-1G>A	9.37:g.77249547G>A						RORB_uc004ajh.2_Missense_Mutation_p.G32R	p.G43R	NM_006914	NP_008845	Q92753	RORB_HUMAN			3	176	+			43			Nuclear receptor.		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.127G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.122982	0.94429	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97870	-4.58;-4.58	5.82	5.82	0.92795	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.046500	0.85682	D	0.000000	D	0.99251	0.9739	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98903	1.0777	9	.	.	.	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	43;32	Q92753;Q58EY0	RORB_HUMAN;.	R	32;43	ENSP00000366093:G32R;ENSP00000379507:G43R	.	G	+	1	0	RORB	76439367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.860000	0.99555	2.752000	0.94435	0.655000	0.94253	GGA		PASS	0.408	RORB-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	8	6	8	6	---	---	---	---
C9orf41	138199	broad.mit.edu	37	9	77613660	77613660	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:77613660G>A	ENST00000376834.3	-	5	916	c.764C>T	c.(763-765)cCt>cTt	p.P255L	RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	255								p.P255L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ATGGATCCAAGGATAAAGTTT	0.348																																						uc004ajq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(763-765)CCT>CTT		hypothetical protein LOC138199							49.0	54.0	52.0					9																	77613660		2202	4297	6499	SO:0001583	missense	138199							g.chr9:77613660G>A	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.764C>T	9.37:g.77613660G>A	ENSP00000366030:p.Pro255Leu					C9orf41_uc011lsi.1_RNA	p.P255L	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN			5	917	-			255					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.764C>T	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290809	0.95546	.	.	ENSG00000156017	ENST00000376834;ENST00000451153	T;T	0.04015	3.73;3.73	6.08	6.08	0.98989	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.36358	0.0964	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48559	-0.9025	10	0.87932	D	0	-8.8913	20.6721	0.99693	0.0:0.0:1.0:0.0	.	255	Q8N4J0	CI041_HUMAN	L	255;194	ENSP00000366030:P255L;ENSP00000396353:P194L	ENSP00000366030:P255L	P	-	2	0	C9orf41	76803480	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.394000	0.97261	2.894000	0.99253	0.591000	0.81541	CCT		PASS	0.348	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		21	13	21	13	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78804556	78804556	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:78804556C>T	ENST00000545128.1	+	20	3058	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	PCSK5_ENST00000376752.4_Silent_p.I840I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	840	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.I840I(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GATGTGATATCAGTTGTTTGA	0.393																																						uc004ajz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(2518-2520)ATC>ATT		proprotein convertase subtilisin/kexin type 5							131.0	126.0	127.0					9																	78804556		2203	4300	6503	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78804556C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2520C>T	9.37:g.78804556C>T						PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_Silent_p.I114I	p.I840I	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			20	3058	+			840			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.2520C>T	CCDS55320.1																																																																																				PASS	0.393	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	16	22	16	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79321662	79321662	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:79321662G>A	ENST00000376718.3	-	8	5651	c.5528C>T	c.(5527-5529)cCa>cTa	p.P1843L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.P1484L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1843					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.P1843L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCTTTCAAATGGACTTTCAAT	0.473																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5527-5529)CCA>CTA		prune homolog 2							52.0	45.0	47.0					9																	79321662		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321662G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5528C>T	9.37:g.79321662G>A	ENSP00000365908:p.Pro1843Leu					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.P1843L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5652	-			1843					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5528C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.493	-0.874393	0.02550	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43688	0.94;0.94	4.51	2.65	0.31530	.	0.918827	0.09150	N	0.841647	T	0.26593	0.0650	N	0.14661	0.345	0.18873	N	0.999981	B	0.12013	0.005	B	0.09377	0.004	T	0.20773	-1.0265	10	0.52906	T	0.07	0.0866	8.162	0.31204	0.1969:0.0:0.8031:0.0	.	1843	Q8WUY3	PRUN2_HUMAN	L	1843;1484;1842	ENSP00000365908:P1843L;ENSP00000397425:P1484L	ENSP00000365908:P1843L	P	-	2	0	PRUNE2	78511482	0.001000	0.12720	0.010000	0.14722	0.001000	0.01503	1.032000	0.30178	0.818000	0.34468	-0.258000	0.10820	CCA		PASS	0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	14	10	14	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79324429	79324429	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:79324429G>A	ENST00000376718.3	-	8	2884	c.2761C>T	c.(2761-2763)Ctt>Ttt	p.L921F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.L562F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	921					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.L921F(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCAAAAAGGTTCCAGGAA	0.398																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2761-2763)CTT>TTT		prune homolog 2							233.0	219.0	223.0					9																	79324429		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324429G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2761C>T	9.37:g.79324429G>A	ENSP00000365908:p.Leu921Phe						p.L921F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2885	-			921					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2761C>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.713|8.713	0.912460|0.912460	0.17907|0.17907	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.58506|.	0.33;0.37|.	5.83|5.83	0.138|0.138	0.14793|0.14793	.|.	0.568600|.	0.14474|.	N|.	0.317372|.	T|T	0.37046|0.37046	0.0989|0.0989	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B|.	0.20887|.	0.049|.	B|.	0.19666|.	0.026|.	T|T	0.15122|0.15122	-1.0448|-1.0448	10|5	0.87932|.	D|.	0|.	-4.5098|-4.5098	1.1569|1.1569	0.01797|0.01797	0.3471:0.1032:0.3204:0.2294|0.3471:0.1032:0.3204:0.2294	.|.	921|.	Q8WUY3|.	PRUN2_HUMAN|.	F|L	921;562;920|242	ENSP00000365908:L921F;ENSP00000397425:L562F|.	ENSP00000365908:L921F|.	L|P	-|-	1|2	0|0	PRUNE2|PRUNE2	78514249|78514249	0.095000|0.095000	0.21747|0.21747	0.996000|0.996000	0.52242|0.52242	0.580000|0.580000	0.36256|0.36256	-0.122000|-0.122000	0.10627|0.10627	0.089000|0.089000	0.17243|0.17243	0.561000|0.561000	0.74099|0.74099	CTT|CCT		PASS	0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		66	53	66	53	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79862249	79862249	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:79862249C>T	ENST00000360280.3	+	20	2235	c.1975C>T	c.(1975-1977)Cca>Tca	p.P659S	VPS13A_ENST00000376636.3_Missense_Mutation_p.P659S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P659S|VPS13A_ENST00000376634.4_Missense_Mutation_p.P659S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	659					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.P659S(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATTATTGTCCCACAAGATGG	0.289																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(1975-1977)CCA>TCA		vacuolar protein sorting 13A isoform A							88.0	96.0	94.0					9																	79862249		2202	4285	6487	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79862249C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1975C>T	9.37:g.79862249C>T	ENSP00000353422:p.Pro659Ser					VPS13A_uc004akp.3_Missense_Mutation_p.P659S|VPS13A_uc004akq.3_Missense_Mutation_p.P659S|VPS13A_uc004aks.2_Missense_Mutation_p.P659S	p.P659S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			20	2235	+			659					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1975C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742927	0.89573	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88130	0.6354	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.88163	0.2859	10	0.62326	D	0.03	.	19.7884	0.96447	0.0:1.0:0.0:0.0	.	659;659;659;659	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	659	ENSP00000365821:P659S;ENSP00000365823:P659S;ENSP00000353422:P659S;ENSP00000349985:P659S	ENSP00000349985:P659S	P	+	1	0	VPS13A	79052069	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.117000	0.77129	2.743000	0.94032	0.563000	0.77884	CCA		PASS	0.289	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		12	25	12	25	---	---	---	---
SPATA31B1P	404770	broad.mit.edu	37	9	84676160	84676160	+	IGR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:84676160C>T								SPATA31D1 (65989 upstream) : RP11-15B24.5 (211510 downstream)														p.E89K(1)									TCCATAGGCTCAAGAGAGGAC	0.562																																						uc010mpu.1																			1	Substitution - Missense(1)		lung(1)								c.(265-267)GAG>AAG		hypothetical protein LOC404770							159.0	164.0	162.0					9																	84676160		1944	4130	6074	SO:0001628	intergenic_variant	0							g.chr9:84676160C>T																													9.37:g.84676160C>T							p.E89K	NM_001164339	NP_001157811					3	268	-									Missense_Mutation	SNP		37	c.265G>A		.	.	.	.	.	.	.	.	.	.	C	8.878	0.950870	0.18431	.	.	ENSG00000204561	ENST00000376458	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	T	0.30792	0.0776	.	.	.	0.23506	N	0.997538	B	0.23377	0.084	B	0.18561	0.022	T	0.29579	-1.0007	6	0.41790	T	0.15	.	5.6148	0.17426	0.0:1.0:0.0:0.0	.	89	Q5VZV4	FA75B_HUMAN	K	89	.	ENSP00000365641:E89K	E	-	1	0	FAM75B	83865980	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	0.764000	0.26532	0.924000	0.37069	0.134000	0.15878	GAG	0	PASS	0.562									57	51	57	51	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86468574	86468574	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:86468574A>G	ENST00000297814.2	-	15	3470	c.3327T>C	c.(3325-3327)atT>atC	p.I1109I	RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000413982.1_Silent_p.I1043I|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Silent_p.I1012I|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1109					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1109I(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GAATAGTTCTAATCTCAACAG	0.363																																						uc004ana.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(1)	5						c.(3325-3327)ATT>ATC		kinesin family member 27							77.0	71.0	73.0					9																	86468574		2203	4300	6503	SO:0001819	synonymous_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86468574A>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3327T>C	9.37:g.86468574A>G						KIF27_uc010mpw.2_Silent_p.I1043I|KIF27_uc010mpx.2_Silent_p.I1012I	p.I1109I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			15	3471	-			1109					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	c.3327T>C	CCDS6665.1																																																																																				PASS	0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		20	19	20	19	---	---	---	---
NTRK2	4915	broad.mit.edu	37	9	87338487	87338487	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:87338487G>A	ENST00000323115.4	+	6	936		c.e6-1		NTRK2_ENST00000304053.6_Splice_Site|NTRK2_ENST00000376213.1_Splice_Site|NTRK2_ENST00000376208.1_Splice_Site|NTRK2_ENST00000359847.3_Splice_Site|NTRK2_ENST00000376214.1_Splice_Site|NTRK2_ENST00000395882.1_Splice_Site|NTRK2_ENST00000395866.2_Splice_Site|NTRK2_ENST00000277120.3_Splice_Site			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.?(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TTGTTCCATAGGTTTGCCATC	0.368										TSP Lung(25;0.17)																												uc004aoa.1																			3	Unknown(3)		lung(3)	lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.e9-1		neurotrophic tyrosine kinase, receptor, type 2							148.0	127.0	134.0					9																	87338487		2203	4300	6503	SO:0001630	splice_region_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338487G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.584-1G>A	9.37:g.87338487G>A		TSP Lung(25;0.17)				NTRK2_uc004anv.1_Splice_Site_p.G195_splice|NTRK2_uc004any.1_Splice_Site_p.G195_splice|NTRK2_uc004anz.1_Splice_Site_p.G195_splice|NTRK2_uc011lsz.1_Splice_Site_p.G195_splice|NTRK2_uc011lta.1_Splice_Site_p.G195_splice|NTRK2_uc004aob.1_Splice_Site_p.G195_splice|NTRK2_uc011ltb.1_Splice_Site_p.G39_splice	p.G195_splice	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			9	1522	+								B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Splice_Site	SNP	ENST00000323115.4	37	c.584_splice	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018077	0.75275	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0504	0.93041	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTRK2	86528307	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	6.102000	0.71486	2.807000	0.96579	0.591000	0.81541	.		PASS	0.368	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		Intron	16	16	16	16	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172935	94172935	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:94172935G>A	ENST00000297689.3	-	2	476	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	28					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.L28F(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCAGAATTAAGGACCATCATC	0.468																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CTT>TTT		nuclear factor, interleukin 3 regulated							119.0	114.0	116.0					9																	94172935		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.chr9:94172935G>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.82C>T	9.37:g.94172935G>A	ENSP00000297689:p.Leu28Phe						p.L28F	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	477	-			28					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.82C>T	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456660	0.84317	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000014	T	0.57301	0.2044	L	0.36672	1.1	0.46823	D	0.999213	P	0.46706	0.883	P	0.47402	0.546	T	0.57934	-0.7725	9	0.44086	T	0.13	-15.8536	18.5923	0.91218	0.0:0.0:1.0:0.0	.	28	Q16649	NFIL3_HUMAN	F	28	.	ENSP00000297689:L28F	L	-	1	0	NFIL3	93212756	0.998000	0.40836	0.028000	0.17463	0.357000	0.29423	3.630000	0.54273	2.698000	0.92095	0.561000	0.74099	CTT		PASS	0.468	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		25	31	25	31	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94495518	94495518	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:94495518G>A	ENST00000375708.3	-	6	1021	c.823C>T	c.(823-825)Ccg>Tcg	p.P275S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P135S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	275	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P275S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGATGAGCGGGTTGGAGCGG	0.677																																						uc004arj.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(823-825)CCG>TCG		receptor tyrosine kinase-like orphan receptor 2							38.0	34.0	35.0					9																	94495518		2202	4300	6502	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94495518G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.823C>T	9.37:g.94495518G>A	ENSP00000364860:p.Pro275Ser					ROR2_uc004ari.1_Missense_Mutation_p.P135S|ROR2_uc004ark.2_Missense_Mutation_p.P275S	p.P275S	NM_004560	NP_004551	Q01974	ROR2_HUMAN			6	1022	-			275			FZ.|Extracellular (Potential).		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.823C>T	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622205	0.87460	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76968	-1.03;-1.06	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.41938	D	0.000790	D	0.86406	0.5925	M	0.61703	1.905	0.80722	D	1	D;D;P	0.89917	0.987;1.0;0.943	D;D;P	0.91635	0.933;0.999;0.823	D	0.87656	0.2531	10	0.59425	D	0.04	.	17.2815	0.87129	0.0:0.0:1.0:0.0	.	275;275;135	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	S	135;275	ENSP00000364867:P135S;ENSP00000364860:P275S	ENSP00000364860:P275S	P	-	1	0	ROR2	93535339	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.748000	0.85085	2.306000	0.77630	0.561000	0.74099	CCG		PASS	0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			5	4	5	4	---	---	---	---
HEMGN	55363	broad.mit.edu	37	9	100692960	100692960	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:100692960G>T	ENST00000259456.3	-	4	860	c.717C>A	c.(715-717)ccC>ccA	p.P239P		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	239					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.P239P(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGGATTTTGGGTACAGCAG	0.413																																						uc004axy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(715-717)CCC>CCA		hemogen							238.0	225.0	230.0					9																	100692960		2203	4300	6503	SO:0001819	synonymous_variant	55363				cell differentiation|multicellular organismal development			g.chr9:100692960G>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.717C>A	9.37:g.100692960G>T						HEMGN_uc004axz.2_Silent_p.P239P	p.P239P	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	825	-		Acute lymphoblastic leukemia(62;0.0559)	239					Q6XAR3|Q86XY5|Q9NPC0	Silent	SNP	ENST00000259456.3	37	c.717C>A	CCDS6731.1																																																																																				PASS	0.413	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		5	98	5	98	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101806876	101806876	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:101806876C>T	ENST00000375001.3	+	25	3024	c.2601C>T	c.(2599-2601)atC>atT	p.I867I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	867	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.I867I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CGGGTGCCATCCTGACAGAGG	0.502																																						uc004azb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(2599-2601)ATC>ATT		alpha 1 type XV collagen precursor							107.0	102.0	104.0					9																	101806876		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101806876C>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2601C>T	9.37:g.101806876C>T							p.I867I	NM_001855	NP_001846	P39059	COFA1_HUMAN			25	2807	+		Acute lymphoblastic leukemia(62;0.0562)	867			Triple-helical region 4 (COL4).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.2601C>T	CCDS35081.1																																																																																				PASS	0.502	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	10	5	10	---	---	---	---
MSANTD3	91283	broad.mit.edu	37	9	103213214	103213214	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:103213214C>T	ENST00000395067.2	+	3	1065	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TMEFF1_ENST00000334943.6_Intron|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	265								p.S265F(1)		endometrium(2)|lung(2)	4						TGGCCTGTTTCCTCATTTAAC	0.418																																						uc004baw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)TCC>TTC		hypothetical protein LOC91283							49.0	51.0	50.0					9																	103213214		2192	4299	6491	SO:0001583	missense	91283							g.chr9:103213214C>T	BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.794C>T	9.37:g.103213214C>T	ENSP00000378506:p.Ser265Phe					TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_RNA	p.S265F	NM_080655	NP_542386	Q96H12	CI030_HUMAN			3	861	+		Acute lymphoblastic leukemia(62;0.0527)	265					B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	ENST00000395067.2	37	c.794C>T	CCDS6749.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899452	0.52227	.	.	ENSG00000066697	ENST00000395067	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.35335	0.0928	N	0.08118	0	0.80722	D	1	P	0.38565	0.637	B	0.31812	0.136	T	0.42207	-0.9465	8	0.87932	D	0	-8.3167	19.6475	0.95784	0.0:1.0:0.0:0.0	.	265	Q96H12	CI030_HUMAN	F	265	.	ENSP00000378506:S265F	S	+	2	0	C9orf30	102253035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.010000	0.64004	2.885000	0.99019	0.655000	0.94253	TCC		PASS	0.418	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053410.1	NM_080655		18	10	18	10	---	---	---	---
PLPPR1	54886	broad.mit.edu	37	9	104048415	104048415	+	Silent	SNP	C	C	T	rs267602054		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:104048415C>T	ENST00000374874.3	+	4	721	c.282C>T	c.(280-282)ttC>ttT	p.F94F	LPPR1_ENST00000395056.2_Silent_p.F94F	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		94					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.F94F(1)									CCATGTATTTCATAAAATCAA	0.373																																						uc004bbb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)TTC>TTT		plasticity related gene 3							95.0	94.0	94.0					9																	104048415		2203	4300	6503	SO:0001819	synonymous_variant	54886					integral to membrane	catalytic activity	g.chr9:104048415C>T																												ENST00000374874.3:c.282C>T	9.37:g.104048415C>T						LPPR1_uc011lvi.1_Silent_p.F70F|LPPR1_uc004bbc.2_Silent_p.F94F|LPPR1_uc010mtc.2_Silent_p.F78F	p.F94F	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN			4	681	+			94					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.282C>T	CCDS6751.1																																																																																				PASS	0.373	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			23	19	23	19	---	---	---	---
BAAT	570	broad.mit.edu	37	9	104124868	104124868	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:104124868G>A	ENST00000395051.3	-	3	1169	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	BAAT_ENST00000259407.2_Missense_Mutation_p.P367S			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	367					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.P367S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGAGAATAGGGAGGTTCTATC	0.542																																						uc010mtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1099-1101)CCC>TCC		bile acid Coenzyme A: amino acid	Glycine(DB00145)						214.0	184.0	194.0					9																	104124868		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104124868G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1099C>T	9.37:g.104124868G>A	ENSP00000378491:p.Pro367Ser					BAAT_uc004bbd.3_Missense_Mutation_p.P367S	p.P367S	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			4	1208	-		Acute lymphoblastic leukemia(62;0.0559)	367					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.1099C>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258988	0.59321	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.61274	0.12;0.12	4.96	2.12	0.27331	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.170218	0.41500	D	0.000879	T	0.75436	0.3849	M	0.89785	3.06	0.46078	D	0.998851	D	0.89917	1.0	D	0.97110	1.0	T	0.73269	-0.4036	10	0.66056	D	0.02	-13.9612	6.3674	0.21463	0.1699:0.1522:0.6779:0.0	.	367	Q14032	BAAT_HUMAN	S	367	ENSP00000259407:P367S;ENSP00000378491:P367S	ENSP00000259407:P367S	P	-	1	0	BAAT	103164689	1.000000	0.71417	0.047000	0.18901	0.643000	0.38383	6.485000	0.73625	0.279000	0.22186	0.655000	0.94253	CCC		PASS	0.542	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			13	14	13	14	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104357047	104357047	+	Intron	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:104357047G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.P56S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P56S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGCACCAACGGGTTGTGGCGC	0.557																																						uc004bbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(166-168)CCG>TCG		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						68.0	67.0	67.0					9																	104357047		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357047G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15405C>T	9.37:g.104357047G>A						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	p.P56S	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	237	-		Acute lymphoblastic leukemia(62;0.0527)	53			EF-hand 2.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.166C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631051	0.67015	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.38401	1.14	3.94	3.94	0.45596	EF-hand-like domain (1);	0.000000	0.39544	N	0.001334	T	0.52869	0.1761	M	0.64404	1.975	0.49798	D	0.999825	D	0.62365	0.991	P	0.61397	0.888	T	0.57780	-0.7752	10	0.87932	D	0	-19.5863	14.2872	0.66254	0.0:0.0:1.0:0.0	.	53	Q96LZ3	CANB2_HUMAN	S	56	ENSP00000363939:P56S	ENSP00000363939:P56S	P	-	1	0	PPP3R2	103396868	1.000000	0.71417	0.866000	0.34008	0.185000	0.23345	9.200000	0.95010	2.491000	0.84063	0.563000	0.77884	CCG		PASS	0.557	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			24	12	24	12	---	---	---	---
OR13C8	138802	broad.mit.edu	37	9	107332164	107332164	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:107332164C>T	ENST00000335040.1	+	1	716	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S239F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAGGCCTTCTCCACCTGCTCA	0.408																																						uc011lvo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(715-717)TCC>TTC		olfactory receptor, family 13, subfamily C,							139.0	130.0	133.0					9																	107332164		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332164C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.716C>T	9.37:g.107332164C>T	ENSP00000334068:p.Ser239Phe						p.S239F	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	716	+			239			Helical; Name=6; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.716C>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052158	0.55218	.	.	ENSG00000186943	ENST00000335040	T	0.00311	8.15	4.9	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.00967	0.0032	H	0.94925	3.6	0.33460	D	0.58482	D	0.69078	0.997	D	0.74023	0.982	T	0.15983	-1.0418	10	0.87932	D	0	.	13.1764	0.59629	0.0:0.8384:0.1616:0.0	.	239	Q8NGS7	O13C8_HUMAN	F	239	ENSP00000334068:S239F	ENSP00000334068:S239F	S	+	2	0	OR13C8	106371985	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.605000	0.24179	1.380000	0.46344	0.561000	0.74099	TCC		PASS	0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			15	27	15	27	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107651464	107651464	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:107651464G>A	ENST00000374736.3	-	3	473	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	ABCA1_ENST00000374733.1_5'UTR|ABCA1_ENST00000423487.2_Silent_p.L27L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	27					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L27L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCCACTTCCAGCAGCAGCTGA	0.428																																						uc004bcl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(79-81)CTG>TTG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						60.0	62.0	61.0					9																	107651464		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107651464G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.79C>T	9.37:g.107651464G>A						ABCA1_uc004bcm.2_5'UTR	p.L27L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	3	392	-			27			Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.79C>T	CCDS6762.1																																																																																				PASS	0.428	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		9	16	9	16	---	---	---	---
PALM2	114299	broad.mit.edu	37	9	112705264	112705264	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:112705264G>A	ENST00000374531.2	+	7	773	c.699G>A	c.(697-699)aaG>aaA	p.K233K	PALM2_ENST00000448454.2_Silent_p.K267K|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Silent_p.K265K|PALM2_ENST00000483909.1_Silent_p.K231K|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	233					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.K233K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCCATCCCAAGGAACACATGC	0.512																																						uc004bei.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(793-795)AAG>AAA		A kinase (PRKA) anchor protein 2 isoform 2							68.0	65.0	66.0					9																	112705264		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112705264G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.699G>A	9.37:g.112705264G>A						PALM2_uc004bef.2_Silent_p.K267K|PALM2_uc004beg.2_Silent_p.K233K|PALM2_uc004beh.3_Silent_p.K265K|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	p.K265K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			7	987	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	c.795G>A	CCDS35099.1																																																																																				PASS	0.512	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		11	21	11	21	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113170096	113170096	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:113170096G>A	ENST00000401783.2	-	38	8120	c.7784C>T	c.(7783-7785)aCc>aTc	p.T2595I	SVEP1_ENST00000297826.5_Missense_Mutation_p.T521I|SVEP1_ENST00000374469.1_Missense_Mutation_p.T2572I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2595	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.T2598I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTTCACAGGTCTGCATGGC	0.448																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(7783-7785)ACC>ATC		polydom							104.0	104.0	104.0					9																	113170096		1982	4179	6161	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170096G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7784C>T	9.37:g.113170096G>A	ENSP00000384917:p.Thr2595Ile					SVEP1_uc010mty.2_Missense_Mutation_p.T521I	p.T2595I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8121	-			2595			Sushi 20.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7784C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608756	0.46527	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.69175	-0.38;-0.38;-0.38	5.98	5.09	0.68999	Complement control module (2);Sushi/SCR/CCP (3);	0.044711	0.85682	D	0.000000	T	0.68577	0.3016	L	0.43646	1.37	0.80722	D	1	D	0.57899	0.981	P	0.54210	0.745	T	0.64774	-0.6328	10	0.20046	T	0.44	.	15.4303	0.75087	0.0665:0.0:0.9335:0.0	.	2595	Q4LDE5	SVEP1_HUMAN	I	2595;2572;521;267	ENSP00000384917:T2595I;ENSP00000363593:T2572I;ENSP00000297826:T521I	ENSP00000297826:T521I	T	-	2	0	SVEP1	112209917	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.776000	0.85560	1.543000	0.49345	-0.216000	0.12614	ACC		PASS	0.448	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	48	43	48	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113170641	113170641	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:113170641G>A	ENST00000401783.2	-	38	7575	c.7239C>T	c.(7237-7239)ttC>ttT	p.F2413F	SVEP1_ENST00000297826.5_Silent_p.F339F|SVEP1_ENST00000374469.1_Silent_p.F2390F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2413	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F2416F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCTCTTAGGAAAAACCCAC	0.478																																						uc010mtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)	7						c.(7237-7239)TTC>TTT		polydom							45.0	44.0	44.0					9																	113170641		1861	4106	5967	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170641G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7239C>T	9.37:g.113170641G>A						SVEP1_uc010mty.2_Silent_p.F339F	p.F2413F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7576	-			2413			Sushi 17.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7239C>T	CCDS48004.1																																																																																				PASS	0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	27	20	27	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113251945	113251945	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:113251945G>A	ENST00000401783.2	-	9	2251	c.1915C>T	c.(1915-1917)Cat>Tat	p.H639Y	SVEP1_ENST00000302728.8_Missense_Mutation_p.H639Y|SVEP1_ENST00000374461.1_Missense_Mutation_p.H616Y|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.H616Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	639	HYR 1. {ECO:0000255|PROSITE- ProRule:PRU00113}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.H639Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCTTGATATGGAAAATGCAG	0.468																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(1915-1917)CAT>TAT		polydom							98.0	96.0	96.0					9																	113251945		1950	4154	6104	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113251945G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1915C>T	9.37:g.113251945G>A	ENSP00000384917:p.His639Tyr					SVEP1_uc010mua.1_Missense_Mutation_p.H639Y|SVEP1_uc004beu.2_Missense_Mutation_p.H639Y	p.H639Y	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			9	2252	-			639			HYR 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1915C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.421102	0.01126	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.04	1.25	0.21368	Hyalin (2);	0.392880	0.29558	N	0.011804	T	0.07007	0.0178	N	0.14661	0.345	0.21579	N	0.999634	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.33137	-0.9880	10	0.02654	T	1	.	1.3398	0.02152	0.1562:0.1219:0.3395:0.3824	.	639;639;639	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Y	639;616;639;616	ENSP00000384917:H639Y;ENSP00000363593:H616Y;ENSP00000304118:H639Y;ENSP00000363585:H616Y	ENSP00000304118:H639Y	H	-	1	0	SVEP1	112291766	0.999000	0.42202	0.963000	0.40424	0.055000	0.15305	2.930000	0.48924	0.793000	0.33875	0.557000	0.71058	CAT		PASS	0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	18	11	18	---	---	---	---
LPAR1	1902	broad.mit.edu	37	9	113703745	113703745	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:113703745C>A	ENST00000374431.3	-	4	1132	c.749G>T	c.(748-750)cGg>cTg	p.R250L	LPAR1_ENST00000541779.1_Missense_Mutation_p.R251L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R250L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R250L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R251L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	250					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.R250L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CATGGTATCCCGATTCCGCCG	0.443																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(748-750)CGG>CTG		lysophosphatidic acid receptor 1							81.0	83.0	82.0					9																	113703745		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703745C>A	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.749G>T	9.37:g.113703745C>A	ENSP00000363553:p.Arg250Leu					LPAR1_uc011lwm.1_Missense_Mutation_p.R251L|LPAR1_uc004bfb.2_Missense_Mutation_p.R250L|LPAR1_uc004bfc.2_Missense_Mutation_p.R250L|LPAR1_uc011lwn.1_Missense_Mutation_p.R232L|LPAR1_uc011lwo.1_Missense_Mutation_p.R251L|LPAR1_uc010mub.2_Missense_Mutation_p.R250L	p.R250L	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	1004	-			250			Cytoplasmic (Potential).		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.749G>T	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274197	0.80580	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.19	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.988	T	0.60244	-0.7301	10	0.72032	D	0.01	.	12.7949	0.57555	0.0:0.9209:0.0:0.0791	.	251;251;250	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	250;251;250;250;232;251	ENSP00000363553:R250L;ENSP00000445697:R251L;ENSP00000363552:R250L;ENSP00000351755:R250L;ENSP00000440201:R251L	ENSP00000351755:R250L	R	-	2	0	LPAR1	112743566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	1.205000	0.43262	0.563000	0.77884	CGG		PASS	0.443	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		4	67	4	67	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114156585	114156585	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:114156585C>T	ENST00000338205.5	-	25	2996	c.2777G>A	c.(2776-2778)gGa>gAa	p.G926E	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Splice_Site_p.G1104E			Q5VYK3	ECM29_HUMAN	KIAA0368	932					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.G1104E(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACTTTGGCTCCTGGGGAAAA	0.373																																						uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3310-3312)GGA>GAA		KIAA0368 protein							47.0	45.0	46.0					9																	114156585		1862	4094	5956	SO:0001630	splice_region_variant	23392							g.chr9:114156585C>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2777-1G>A	9.37:g.114156585C>T							p.G1104E	NM_001080398	NP_001073867					27	3311	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.3311G>A		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502691	0.26949	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.44881	0.91	5.68	4.68	0.58851	.	0.184300	0.47093	D	0.000249	T	0.13927	0.0337	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32214	-0.9915	10	0.05525	T	0.97	.	3.738	0.08518	0.0:0.661:0.0:0.339	.	401	B3KXF2	.	E	926;1104;401	ENSP00000259335:G1104E	ENSP00000259335:G1104E	G	-	2	0	KIAA0368	113196406	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.727000	0.54984	2.682000	0.91365	0.655000	0.94253	GGA		PASS	0.373	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	Missense_Mutation	6	7	6	7	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114206714	114206714	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:114206714G>A	ENST00000338205.5	-	3	433	c.214C>T	c.(214-216)Cca>Tca	p.P72S	KIAA0368_ENST00000259335.4_Missense_Mutation_p.P250S			Q5VYK3	ECM29_HUMAN	KIAA0368	78					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.P250S(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GTCTCTACTGGAAGTTGTATT	0.393																																						uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(748-750)CCA>TCA		KIAA0368 protein							126.0	122.0	123.0					9																	114206714		1816	4070	5886	SO:0001583	missense	23392							g.chr9:114206714G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.214C>T	9.37:g.114206714G>A	ENSP00000339889:p.Pro72Ser					KIAA0368_uc010muc.1_Missense_Mutation_p.P72S	p.P250S	NM_001080398	NP_001073867					5	748	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.900757	0.92035	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	D	0.94184	-3.37	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97090	0.9790	10	0.87932	D	0	.	19.1987	0.93701	0.0:0.0:1.0:0.0	.	78	Q5VYK3	ECM29_HUMAN	S	72;250	ENSP00000259335:P250S	ENSP00000259335:P250S	P	-	1	0	KIAA0368	113246535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.373000	0.97168	2.543000	0.85770	0.460000	0.39030	CCA		PASS	0.393	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		26	33	26	33	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114304051	114304051	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:114304051G>A	ENST00000309235.5	+	6	994	c.836G>A	c.(835-837)gGa>gAa	p.G279E	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	279					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.G279E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGTAATCAGGGAAATTCAAAA	0.423																																						uc004bff.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(835-837)GGA>GAA		zinc finger protein 483 isoform a							75.0	79.0	78.0					9																	114304051		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304051G>A	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.836G>A	9.37:g.114304051G>A	ENSP00000311679:p.Gly279Glu					ZNF483_uc004bfg.2_Intron	p.G279E	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1060	+			279					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.836G>A	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.394470	0.01175	.	.	ENSG00000173258	ENST00000309235	T	0.04502	3.61	3.76	-0.782	0.10961	.	1.166220	0.06590	N	0.751869	T	0.03053	0.0090	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	10	0.02654	T	1	.	7.7062	0.28650	0.5497:0.0:0.4503:0.0	.	279	Q8TF39	ZN483_HUMAN	E	279	ENSP00000311679:G279E	ENSP00000311679:G279E	G	+	2	0	ZNF483	113343872	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.273000	0.08548	-0.138000	0.11434	0.655000	0.94253	GGA		PASS	0.423	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		34	26	34	26	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114304335	114304335	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:114304335C>T	ENST00000309235.5	+	6	1278	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	374					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.L374F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTCTTCAGCTCTTACTGAACA	0.418																																						uc004bff.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1120-1122)CTT>TTT		zinc finger protein 483 isoform a							85.0	94.0	91.0					9																	114304335		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304335C>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1120C>T	9.37:g.114304335C>T	ENSP00000311679:p.Leu374Phe					ZNF483_uc004bfg.2_Intron	p.L374F	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1344	+			374					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1120C>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905835	0.33628	.	.	ENSG00000173258	ENST00000309235	T	0.40476	1.03	4.35	1.52	0.23074	.	1.554590	0.04163	N	0.323350	T	0.41213	0.1149	L	0.58810	1.83	0.19575	N	0.999962	B	0.15930	0.015	B	0.14023	0.01	T	0.34750	-0.9816	10	0.62326	D	0.03	-1.7347	6.1543	0.20328	0.0:0.6644:0.1563:0.1793	.	374	Q8TF39	ZN483_HUMAN	F	374	ENSP00000311679:L374F	ENSP00000311679:L374F	L	+	1	0	ZNF483	113344156	0.000000	0.05858	0.001000	0.08648	0.325000	0.28411	0.193000	0.17116	0.366000	0.24427	0.655000	0.94253	CTT		PASS	0.418	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		37	23	37	23	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117064382	117064382	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:117064382C>T	ENST00000356083.3	+	56	5257	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1622					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.I1622I(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGGTCCTATCCAATTGGTAA	0.562																																						uc011lxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(4864-4866)ATC>ATT		collagen, type XXVII, alpha 1 precursor							109.0	109.0	109.0					9																	117064382		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117064382C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4866C>T	9.37:g.117064382C>T						COL27A1_uc004bii.2_RNA	p.I1622I	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			56	4866	+			1622					Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.4866C>T	CCDS6802.1																																																																																				PASS	0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		29	24	29	24	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118989746	118989746	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:118989746G>A	ENST00000328252.3	+	6	2517	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	716					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G716G(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCTGGAAGGGAGAATCCTGG	0.527																																						uc004bjn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|pancreas(1)	9						c.(2146-2148)GGG>GGA		pregnancy-associated plasma protein A							194.0	174.0	181.0					9																	118989746		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118989746G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2148G>A	9.37:g.118989746G>A						PAPPA_uc011lxp.1_Silent_p.G411G|PAPPA_uc011lxq.1_Intron	p.G716G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			6	2529	+			716					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.2148G>A	CCDS6813.1																																																																																				PASS	0.527	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		28	19	28	19	---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123624866	123624867	+	Splice_Site	DNP	CC	CC	AT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:123624866_123624867CC>AT	ENST00000373896.3	-	11	1381_1382	c.1129_1130GG>AT	c.(1129-1131)GGt>ATt	p.G377I	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Splice_Site_p.G168I	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	377					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G377V(1)|p.G377I(1)|p.G377S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCACTGACCCAGGCTTGCTC	0.619																																						uc004bks.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)	2						c.(1129-1131)GGT>GTT|c.(1129-1131)GGT>AGT		PHD finger protein 19 isoform a																																				SO:0001630	splice_region_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123624866C>A|g.chr9:123624867C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1129_1130delinsAT	9.37:g.123624866_123624867delinsAT						PHF19_uc011lyf.1_Missense_Mutation_p.G168V|PHF19_uc004bkr.2_RNA|PHF19_uc011lyf.1_Missense_Mutation_p.G168S|PHF19_uc004bkr.2_RNA	p.G377V|p.G377S	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			11	1383|1382	-			377					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.1130G>T|c.1129G>A	CCDS35116.1																																																																																				PASS	0.619	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308	Missense_Mutation	9	17	9	17	---	---	---	---
PTGS1	5742	broad.mit.edu	37	9	125145854	125145854	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:125145854G>A	ENST00000362012.2	+	8	834	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	PTGS1_ENST00000540753.1_Missense_Mutation_p.G252S|PTGS1_ENST00000223423.4_Missense_Mutation_p.G277S|PTGS1_ENST00000373698.5_Missense_Mutation_p.G168S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	277					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.G277S(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTACCCCCGAGGCATCCCGCC	0.632																																						uc004bmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)GGC>AGC		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						68.0	61.0	63.0					9																	125145854		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125145854G>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.829G>A	9.37:g.125145854G>A	ENSP00000354612:p.Gly277Ser					PTGS1_uc011lys.1_Missense_Mutation_p.G252S|PTGS1_uc010mwb.1_Missense_Mutation_p.G168S|PTGS1_uc004bmf.1_Missense_Mutation_p.G277S|PTGS1_uc004bmh.1_Missense_Mutation_p.G168S|PTGS1_uc011lyt.1_Missense_Mutation_p.G168S	p.G277S	NM_000962	NP_000953	P23219	PGH1_HUMAN			8	964	+			277					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.829G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	0.201	-1.044846	0.01997	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.99	-0.412	0.12367	.	1.471490	0.03121	N	0.163719	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	B;B;B	0.10296	0.002;0.0;0.003	B;B;B	0.19148	0.024;0.004;0.009	T	0.35674	-0.9779	10	0.09590	T	0.72	-1.4482	6.9488	0.24534	0.4392:0.1188:0.4421:0.0	.	252;277;277	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	S	252;277;277;168	ENSP00000437709:G252S;ENSP00000354612:G277S;ENSP00000223423:G277S;ENSP00000362802:G168S	ENSP00000223423:G277S	G	+	1	0	PTGS1	124185675	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-0.039000	0.13602	0.561000	0.74099	GGC		PASS	0.632	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			9	12	9	12	---	---	---	---
OR1Q1	158131	broad.mit.edu	37	9	125377828	125377828	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:125377828G>A	ENST00000297913.2	+	1	881	c.812G>A	c.(811-813)gGt>gAt	p.G271D	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	271					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.G271D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GTGACCAAGGGTCGCATTATA	0.527																																						uc011lyy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GGT>GAT		olfactory receptor, family 1, subfamily Q,							66.0	64.0	65.0					9																	125377828		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377828G>A		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.812G>A	9.37:g.125377828G>A	ENSP00000297913:p.Gly271Asp						p.G271D	NM_012364	NP_036496	Q15612	OR1Q1_HUMAN			1	812	+			271			Extracellular (Potential).		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.812G>A	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.667512	0.00765	.	.	ENSG00000165202	ENST00000297913	T	0.00020	9.04	5.57	-0.653	0.11447	GPCR, rhodopsin-like superfamily (1);	0.418477	0.20429	N	0.092505	T	0.00039	0.0001	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36672	-0.9738	10	0.02654	T	1	-2.5562	5.3481	0.16020	0.4394:0.0:0.4296:0.131	.	271	Q15612	OR1Q1_HUMAN	D	271	ENSP00000297913:G271D	ENSP00000297913:G271D	G	+	2	0	OR1Q1	124417649	0.000000	0.05858	0.001000	0.08648	0.469000	0.32828	-0.044000	0.12023	-0.036000	0.13669	0.650000	0.86243	GGT		PASS	0.527	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			21	28	21	28	---	---	---	---
OR1B1	347169	broad.mit.edu	37	9	125391009	125391009	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:125391009G>A	ENST00000304833.3	-	1	843	c.806C>T	c.(805-807)cCc>cTc	p.P269L	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P269L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTTCTGGAAGGGAGGCTGGAA	0.512																																						uc011lyz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)CCC>CTC		olfactory receptor, family 1, subfamily B,							82.0	69.0	73.0					9																	125391009		2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391009G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.806C>T	9.37:g.125391009G>A	ENSP00000303151:p.Pro269Leu						p.P269L	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			1	806	-			269			Helical; Name=6; (Potential).		Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.806C>T	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.062645	0.55432	.	.	ENSG00000171484	ENST00000304833	T	0.00164	8.64	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.326684	0.22224	N	0.062912	T	0.00178	0.0005	N	0.17631	0.505	0.41562	D	0.988631	P	0.49447	0.924	P	0.51453	0.67	D	0.99985	1.3164	10	0.41790	T	0.15	-5.3303	15.2822	0.73794	0.0:0.0:1.0:0.0	.	269	Q8NGR6	OR1B1_HUMAN	L	269	ENSP00000303151:P269L	ENSP00000303151:P269L	P	-	2	0	OR1B1	124430830	0.000000	0.05858	0.997000	0.53966	0.987000	0.75469	-0.232000	0.09055	2.523000	0.85059	0.645000	0.84053	CCC		PASS	0.512	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		17	17	17	17	---	---	---	---
PDCL	5082	broad.mit.edu	37	9	125585315	125585316	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:125585315_125585316GG>AA	ENST00000259467.4	-	3	498_499	c.333_334CC>TT	c.(331-336)ctCCag>ctTTag	p.Q112*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	112					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)	p.Q112*(2)|p.L111L(1)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						ATCTTCTCCTGGAGGTCTTTCT	0.505																																						uc004bmz.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(334-336)CAG>TAG|c.(331-333)CTC>CTT		phosducin-like																																				SO:0001587	stop_gained	5082				signal transduction|visual perception			g.chr9:125585315G>A|g.chr9:125585316G>A	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.333_334delinsAA	9.37:g.125585315_125585316delinsAA	ENSP00000259467:p.Gln112*					PDCL_uc004bna.2_Nonsense_Mutation_p.Q112*|PDCL_uc004bna.2_Silent_p.L111L	p.Q112*|p.L111L	NM_005388	NP_005379	Q13371	PHLP_HUMAN			3	430|429	-			112|111					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Nonsense_Mutation|Silent	SNP	ENST00000259467.4	37	c.334C>T|c.333C>T	CCDS6845.1																																																																																				PASS	0.505	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		33|34	40	33	40	---	---	---	---
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:127912080G>A	ENST00000373547.4	-	7	889	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	PPP6C_ENST00000451402.1_Missense_Mutation_p.R301C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403																																						uc004bpg.3																			4	Substitution - Missense(4)		lung(2)|NS(1)|skin(1)	ovary(1)|skin(1)	2						c.(790-792)CGT>TGT		protein phosphatase 6, catalytic subunit isoform							138.0	120.0	126.0					9																	127912080		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127912080G>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.790C>T	9.37:g.127912080G>A	ENSP00000362648:p.Arg264Cys					PPP6C_uc010mwv.2_Missense_Mutation_p.R301C|PPP6C_uc010mww.2_Missense_Mutation_p.R242C|PPP6C_uc011lzr.1_Missense_Mutation_p.R117C	p.R264C	NM_002721	NP_002712	O00743	PPP6_HUMAN			7	1011	-			264					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.790C>T	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848982	0.51164	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.52	4.62	0.57501	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.135872	0.64402	N	0.000001	T	0.80994	0.4731	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86920	0.2066	10	0.87932	D	0	-0.5573	13.4124	0.60950	0.0755:0.0:0.9245:0.0	.	242;301;264	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	C	264;301;242;117	ENSP00000362648:R264C;ENSP00000392147:R301C;ENSP00000411744:R242C;ENSP00000362647:R117C	ENSP00000362647:R117C	R	-	1	0	PPP6C	126951901	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.415000	0.97375	1.336000	0.45506	-0.262000	0.10625	CGT		PASS	0.403	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		8	14	8	14	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130507027	130507027	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:130507027C>T	ENST00000314830.8	-	7	1729	c.1616G>A	c.(1615-1617)gGc>gAc	p.G539D	SH2D3C_ENST00000373276.3_Missense_Mutation_p.G471D|SH2D3C_ENST00000420366.1_Missense_Mutation_p.G381D|SH2D3C_ENST00000373274.3_Missense_Mutation_p.G379D|SH2D3C_ENST00000373277.4_Missense_Mutation_p.G382D|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.G185D	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	539					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.G539D(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAGGTCTTGCCCCAGTCCCC	0.597																																						uc004bsc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1615-1617)GGC>GAC		SH2 domain containing 3C isoform a							135.0	139.0	138.0					9																	130507027		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507027C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1616G>A	9.37:g.130507027C>T	ENSP00000317817:p.Gly539Asp					SH2D3C_uc010mxo.2_Missense_Mutation_p.G379D|SH2D3C_uc004bry.2_Missense_Mutation_p.G381D|SH2D3C_uc004brz.3_Missense_Mutation_p.G185D|SH2D3C_uc011mak.1_Missense_Mutation_p.G185D|SH2D3C_uc004bsa.2_Missense_Mutation_p.G382D|SH2D3C_uc004bsb.2_Missense_Mutation_p.G471D	p.G539D	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1758	-			539					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1616G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	0.651	-0.809615	0.02798	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.63	3.78	0.43462	.	0.428418	0.27922	N	0.017316	T	0.16171	0.0389	L	0.31926	0.97	0.58432	D	0.999991	B;B;B;B;B	0.33494	0.414;0.015;0.02;0.016;0.001	B;B;B;B;B	0.28638	0.092;0.01;0.01;0.022;0.001	T	0.05801	-1.0863	10	0.02654	T	1	-13.3316	8.1717	0.31258	0.0:0.7618:0.0:0.2382	.	379;539;471;382;381	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	D	382;381;471;379;185;539	ENSP00000362374:G382D;ENSP00000388536:G381D;ENSP00000362373:G471D;ENSP00000362371:G379D;ENSP00000394632:G185D;ENSP00000317817:G539D	ENSP00000317817:G539D	G	-	2	0	SH2D3C	129546848	0.532000	0.26346	0.982000	0.44146	0.235000	0.25334	1.058000	0.30504	1.369000	0.46134	0.561000	0.74099	GGC		PASS	0.597	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		41	59	41	59	---	---	---	---
FPGS	2356	broad.mit.edu	37	9	130569923	130569923	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:130569923G>A	ENST00000373247.2	+	8	750	c.700G>A	c.(700-702)Gat>Aat	p.D234N	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.D184N|FPGS_ENST00000373245.1_Missense_Mutation_p.D234N|FPGS_ENST00000393706.2_Missense_Mutation_p.D208N	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	234					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)	p.D234N(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCTCCTGGGGGATACGGTGGA	0.602																																						uc004bsg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GAT>AAT		folylpolyglutamate synthase isoform a precursor	L-Glutamic Acid(DB00142)						44.0	44.0	44.0					9																	130569923		2203	4300	6503	SO:0001583	missense	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130569923G>A		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.700G>A	9.37:g.130569923G>A	ENSP00000362344:p.Asp234Asn					FPGS_uc004bsh.1_Missense_Mutation_p.D51N|FPGS_uc011mal.1_Missense_Mutation_p.D208N|FPGS_uc004bsi.1_Missense_Mutation_p.D184N	p.D234N	NM_004957	NP_004948	Q05932	FOLC_HUMAN			8	750	+			234					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	c.700G>A	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	G	9.524	1.109181	0.20714	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.31247	2.96;1.5;2.9;1.5;2.55	5.31	5.31	0.75309	Mur ligase, central (2);	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.45352	1.415	0.80722	D	1	B;B	0.26195	0.144;0.144	B;B	0.30105	0.111;0.111	T	0.05989	-1.0852	10	0.16420	T	0.52	-30.3122	17.9593	0.89079	0.0:0.0:1.0:0.0	.	208;234	Q05932-4;Q05932	.;FOLC_HUMAN	N	234;234;208;234;184;184;158	ENSP00000362344:D234N;ENSP00000362342:D234N;ENSP00000377309:D208N;ENSP00000362325:D234N;ENSP00000362322:D184N	ENSP00000362322:D184N	D	+	1	0	FPGS	129609744	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.577000	0.82486	2.508000	0.84585	0.462000	0.41574	GAT		PASS	0.602	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			4	7	4	7	---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131105494	131105494	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:131105494C>T	ENST00000300456.4	+	2	200	c.83C>T	c.(82-84)tCc>tTc	p.S28F	SLC27A4_ENST00000372870.1_Silent_p.L55L	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	28					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.S28F(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTGGGATTCTCCCTGTTGTTC	0.587																																					Pancreas(107;1554 2241 10946 12953)	uc004but.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TCC>TTC		solute carrier family 27 (fatty acid							121.0	99.0	106.0					9																	131105494		2203	4300	6503	SO:0001583	missense	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131105494C>T	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.83C>T	9.37:g.131105494C>T	ENSP00000300456:p.Ser28Phe					SLC27A4_uc004buu.2_Silent_p.L55L	p.S28F	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN			2	367	+			28			Helical; (Potential).		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	c.83C>T	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374728	0.82573	.	.	ENSG00000167114	ENST00000300456	T	0.51574	0.7	5.0	5.0	0.66597	.	0.125962	0.53938	D	0.000048	T	0.56834	0.2012	L	0.60455	1.87	0.50632	D	0.999886	D	0.58970	0.984	P	0.53593	0.73	T	0.55988	-0.8053	10	0.41790	T	0.15	-36.9875	15.6099	0.76707	0.0:1.0:0.0:0.0	.	28	Q6P1M0	S27A4_HUMAN	F	28	ENSP00000300456:S28F	ENSP00000300456:S28F	S	+	2	0	SLC27A4	130145315	0.986000	0.35501	1.000000	0.80357	0.979000	0.70002	2.745000	0.47459	2.586000	0.87340	0.563000	0.77884	TCC		PASS	0.587	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			12	16	12	16	---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131221850	131221850	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:131221850C>T	ENST00000434106.3	+	3	400	c.37C>T	c.(37-39)Cca>Tca	p.P13S	ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000546203.1_Missense_Mutation_p.P13S|ODF2_ENST00000444119.2_5'Flank|ODF2_ENST00000372814.3_Missense_Mutation_p.P57S|ODF2_ENST00000372791.3_Missense_Mutation_p.P13S|ODF2_ENST00000372807.5_5'Flank|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000604420.1_Missense_Mutation_p.P13S|ODF2_ENST00000393533.2_Missense_Mutation_p.P13S|ODF2_ENST00000448249.3_5'UTR	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	13					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.P57S(1)|p.P13S(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GTGCAGGTTTCCATCGTGTGG	0.473																																						uc011mbd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(37-39)CCA>TCA		outer dense fiber of sperm tails 2 isoform 1							124.0	102.0	109.0					9																	131221850		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131221850C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.37C>T	9.37:g.131221850C>T	ENSP00000403453:p.Pro13Ser					ODF2_uc011maz.1_Missense_Mutation_p.P13S|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Missense_Mutation_p.P13S|ODF2_uc011mbf.1_Missense_Mutation_p.P13S|ODF2_uc004bvd.3_Missense_Mutation_p.P13S|ODF2_uc004bve.2_Missense_Mutation_p.P13S	p.P13S	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			3	348	+			13					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.37C>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133708	0.77662	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000372796;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T	0.69306	0.75;0.44;1.27;1.27;-0.32;-0.39	5.65	4.74	0.60224	.	0.284244	0.38005	N	0.001850	T	0.50803	0.1637	N	0.24115	0.695	0.80722	D	1	B;B;P;B;P	0.36909	0.288;0.288;0.573;0.288;0.573	B;B;B;B;B	0.35278	0.093;0.093;0.199;0.093;0.199	T	0.50634	-0.8805	10	0.31617	T	0.26	-9.0685	12.3661	0.55230	0.0:0.8312:0.1688:0.0	.	13;13;57;13;13	Q5BJF6-8;B4DX73;Q5BJF6-7;Q5BJF6-5;Q5BJF6	.;.;.;.;ODFP2_HUMAN	S	13;57;13;13;13;13;13;13	ENSP00000377166:P13S;ENSP00000361901:P57S;ENSP00000361882:P13S;ENSP00000403453:P13S;ENSP00000437579:P13S;ENSP00000361877:P13S	ENSP00000361877:P13S	P	+	1	0	ODF2	130261671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.527000	0.53517	1.593000	0.50029	0.655000	0.94253	CCA		PASS	0.473	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			7	13	7	13	---	---	---	---
PTGES	9536	broad.mit.edu	37	9	132510953	132510953	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:132510953C>G	ENST00000340607.4	-	2	224	c.190G>C	c.(190-192)Gac>Cac	p.D64H	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	64					acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)	p.D64H(1)		lung(1)|skin(1)	2		Ovarian(14;0.00556)				CGTTCCACGTCGGGGTCGCTC	0.607																																						uc004byi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(190-192)GAC>CAC		prostaglandin E synthase							45.0	39.0	41.0					9																	132510953		2203	4300	6503	SO:0001583	missense	9536				prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity	g.chr9:132510953C>G	AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.190G>C	9.37:g.132510953C>G	ENSP00000342385:p.Asp64His					PTGES_uc010myy.2_RNA|PTGES_uc004byj.2_Missense_Mutation_p.D64H	p.D64H	NM_004878	NP_004869	O14684	PTGES_HUMAN			2	243	-		Ovarian(14;0.00556)	64			Helical.		O14900|Q5SZC0	Missense_Mutation	SNP	ENST00000340607.4	37	c.190G>C	CCDS6927.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590447	0.46214	.	.	ENSG00000148344	ENST00000340607	T	0.58358	0.34	6.08	6.08	0.98989	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.051520	0.85682	D	0.000000	T	0.72795	0.3505	M	0.67625	2.065	0.58432	D	0.999998	D	0.61080	0.989	D	0.72338	0.977	T	0.72903	-0.4151	10	0.87932	D	0	-18.1955	19.6516	0.95815	0.0:1.0:0.0:0.0	.	64	O14684	PTGES_HUMAN	H	64	ENSP00000342385:D64H	ENSP00000342385:D64H	D	-	1	0	PTGES	131550774	0.994000	0.37717	0.127000	0.21898	0.025000	0.11179	3.488000	0.53229	2.894000	0.99253	0.655000	0.94253	GAC		PASS	0.607	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054599.2	NM_004878		4	4	4	4	---	---	---	---
PPAPDC3	84814	broad.mit.edu	37	9	134165636	134165636	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:134165636C>T	ENST00000372264.3	+	1	556	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PPAPDC3_ENST00000372261.1_Silent_p.S84S	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	84	interaction with MTOR. {ECO:0000250}.				negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.S84S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTTCAACTCCCTGCTGGCCA	0.652																																						uc004cal.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(250-252)TCC>TCT		phosphatidic acid phosphatase type 2 domain							79.0	76.0	77.0					9																	134165636		2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165636C>T	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.252C>T	9.37:g.134165636C>T							p.S84S	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	556	+	all_hematologic(7;0.0119)		84			interaction with MTOR (By similarity).|Cytoplasmic (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.252C>T	CCDS6942.1																																																																																				PASS	0.652	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		22	16	22	16	---	---	---	---
PPAPDC3	84814	broad.mit.edu	37	9	134183309	134183309	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:134183309G>A	ENST00000372264.3	+	2	755		c.e2-1			NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3						negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.?(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCCCCAACAGCCCTGCTCCT	0.677																																						uc004cal.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e2-1		phosphatidic acid phosphatase type 2 domain							17.0	18.0	17.0					9																	134183309		2195	4289	6484	SO:0001630	splice_region_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134183309G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.452-1G>A	9.37:g.134183309G>A							p.A151_splice	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	2	756	+	all_hematologic(7;0.0119)							Q5T6P0|Q96SS7|Q9BRC3	Splice_Site	SNP	ENST00000372264.3	37	c.452_splice	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	g	10.42	1.346088	0.24426	.	.	ENSG00000160539	ENST00000372264	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9898	0.86350	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPAPDC3	133173130	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	9.255000	0.95524	2.296000	0.77279	0.505000	0.49811	.		PASS	0.677	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728	Intron	8	3	8	3	---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134501722	134501722	+	Missense_Mutation	SNP	G	G	T	rs369525791		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:134501722G>T	ENST00000372189.3	-	10	1361	c.1238C>A	c.(1237-1239)cCg>cAg	p.P413Q	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.P431Q|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.P430Q|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	413					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.P108Q(1)|p.P431Q(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCTGGCAACGGGCTAAGGTT	0.577																																						uc004cbc.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(1237-1239)CCG>CAG		guanine nucleotide-releasing factor 2 isoform a							58.0	62.0	61.0					9																	134501722		1933	4133	6066	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501722G>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1238C>A	9.37:g.134501722G>T	ENSP00000361263:p.Pro413Gln					RAPGEF1_uc004cbb.2_Missense_Mutation_p.P431Q|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.P418Q|RAPGEF1_uc004cbd.2_Missense_Mutation_p.P418Q	p.P413Q	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1368	-		Myeloproliferative disorder(178;0.204)	413					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.1238C>A	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655897	0.88056	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.46063	0.88;0.88;0.88	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.64997	1.995	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.57452	-0.7809	10	0.29301	T	0.29	.	17.4735	0.87653	0.0:0.0:1.0:0.0	.	430;413;431	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	Q	413;430;307;413;431;393;339;108;430	ENSP00000361269:P430Q;ENSP00000361263:P413Q;ENSP00000361264:P431Q	ENSP00000266110:P413Q	P	-	2	0	RAPGEF1	133491543	1.000000	0.71417	0.956000	0.39512	0.969000	0.65631	8.853000	0.92222	2.434000	0.82447	0.655000	0.94253	CCG		PASS	0.577	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		4	38	4	38	---	---	---	---
CEL	1056	broad.mit.edu	37	9	135942042	135942042	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:135942042C>T	ENST00000372080.4	+	5	689	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	CEL_ENST00000351304.7_Silent_p.L222L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	222					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.L225L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGCGTCTCTCTGCAGGTCTC	0.642																																						uc010naa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(673-675)CTG>TTG		carboxyl ester lipase precursor							60.0	69.0	66.0					9																	135942042		1998	4167	6165	SO:0001819	synonymous_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135942042C>T	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.673C>T	9.37:g.135942042C>T							p.L225L	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	689	+			222					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	ENST00000372080.4	37	c.673C>T	CCDS43896.1																																																																																				PASS	0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			23	22	23	22	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136270378	136270378	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:136270378G>A	ENST00000371957.3	+	18	1983	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	C9orf96_ENST00000371955.1_Missense_Mutation_p.E159K	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		626							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.E626K(1)|p.E578K(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCTGCAGAGGAGATCCTGCC	0.612																																						uc004cdk.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(1876-1878)GAG>AAG		hypothetical protein LOC169436							44.0	42.0	42.0					9																	136270378		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136270378G>A																												ENST00000371957.3:c.1876G>A	9.37:g.136270378G>A	ENSP00000361025:p.Glu626Lys					C9orf96_uc004cdl.2_RNA	p.E626K	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	18	1937	+			626					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1876G>A	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812377	0.70912	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.54675	0.56;0.64	4.9	4.9	0.64082	Armadillo-like helical (1);Armadillo-type fold (1);	0.088547	0.48767	D	0.000178	T	0.66268	0.2772	L	0.55481	1.735	0.37766	D	0.926503	D	0.76494	0.999	D	0.64144	0.922	T	0.72308	-0.4332	10	0.66056	D	0.02	-14.5534	15.939	0.79739	0.0:0.0:1.0:0.0	.	626	Q8NE28	SGK71_HUMAN	K	626;159	ENSP00000361025:E626K;ENSP00000361023:E159K	ENSP00000361023:E159K	E	+	1	0	C9orf96	135260199	1.000000	0.71417	0.995000	0.50966	0.248000	0.25809	5.675000	0.68123	2.411000	0.81874	0.561000	0.74099	GAG		PASS	0.612	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			7	5	7	5	---	---	---	---
SARDH	1757	broad.mit.edu	37	9	136561474	136561474	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:136561474C>T	ENST00000371872.4	-	14	1935	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.E560K|SARDH_ENST00000422262.2_Missense_Mutation_p.E392K	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	560					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.E560K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCAGGCACTCCTTCTTGATC	0.587																																						uc004cep.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)GAG>AAG		sarcosine dehydrogenase precursor							68.0	66.0	67.0					9																	136561474		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136561474C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1678G>A	9.37:g.136561474C>T	ENSP00000360938:p.Glu560Lys					SARDH_uc004ceo.2_Missense_Mutation_p.E560K|SARDH_uc011mdn.1_Missense_Mutation_p.E560K|SARDH_uc011mdo.1_Missense_Mutation_p.E392K|SARDH_uc004cen.2_5'UTR	p.E560K	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	14	1812	-			560					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1678G>A	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270289	0.95429	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	D;D;D	0.91295	-2.82;-2.82;-2.82	5.25	5.25	0.73442	.	0.128121	0.56097	D	0.000030	D	0.96670	0.8913	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97677	1.0170	10	0.87932	D	0	-25.6754	18.4371	0.90650	0.0:1.0:0.0:0.0	.	560	Q9UL12	SARDH_HUMAN	K	560;560;392;560	ENSP00000360938:E560K;ENSP00000403084:E560K;ENSP00000415537:E392K	ENSP00000360938:E560K	E	-	1	0	SARDH	135551295	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.658000	0.83755	2.410000	0.81850	0.655000	0.94253	GAG		PASS	0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			15	13	15	13	---	---	---	---
LHX3	8022	broad.mit.edu	37	9	139089197	139089197	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:139089197C>T	ENST00000371748.5	-	6	1264	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	LHX3_ENST00000371746.3_Missense_Mutation_p.D395N	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	390					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D395N(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TCTACCTCATCCAGCCAGGAG	0.687																																						uc004cha.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1168-1170)GAT>AAT		LIM homeobox protein 3 isoform a							15.0	20.0	18.0					9																	139089197		2153	4234	6387	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139089197C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.1168G>A	9.37:g.139089197C>T	ENSP00000360813:p.Asp390Asn					LHX3_uc004cgz.2_Missense_Mutation_p.D395N	p.D390N	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	6	1265	-		Myeloproliferative disorder(178;0.0511)	390					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.1168G>A	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661908	0.88251	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.90504	-2.53;-2.68	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.93733	0.7997	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.97110	1.0;0.829	D	0.92157	0.5733	10	0.25106	T	0.35	.	16.8226	0.85922	0.0:1.0:0.0:0.0	.	390;395	Q9UBR4;F1T0D9	LHX3_HUMAN;.	N	390;395;390	ENSP00000360813:D390N;ENSP00000360811:D395N	ENSP00000319224:D390N	D	-	1	0	LHX3	138229018	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.271000	0.78506	2.190000	0.69967	0.591000	0.81541	GAT		PASS	0.687	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			3	4	3	4	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139360519	139360519	+	Missense_Mutation	SNP	G	G	A	rs540412966		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:139360519G>A	ENST00000371706.3	-	6	3697	c.3664C>T	c.(3664-3666)Cac>Tac	p.H1222Y	SEC16A_ENST00000290037.6_Missense_Mutation_p.H1222Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.H1222Y|SEC16A_ENST00000313050.7_Missense_Mutation_p.H1400Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1222	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.H1400Y(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AAATCGCCGTGAAAGGAGCCT	0.562																																						uc004chx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4198-4200)CAC>TAC		SEC16 homolog A							50.0	61.0	57.0					9																	139360519		2025	4202	6227	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360519G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3664C>T	9.37:g.139360519G>A	ENSP00000360771:p.His1222Tyr					SEC16A_uc004chv.3_Missense_Mutation_p.H790Y|SEC16A_uc004chw.2_Missense_Mutation_p.H1400Y|SEC16A_uc010nbn.2_Missense_Mutation_p.H1400Y	p.H1400Y	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	8	4507	-		Myeloproliferative disorder(178;0.0511)	1222			Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.4198C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.692354|2.692354	0.48202|0.48202	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348|ENST00000433860	T;T;T;T;T|.	0.32272|.	1.83;1.46;1.83;1.83;1.83|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.334930|.	0.35262|.	N|.	0.003324|.	T|T	0.72946|0.72946	0.3524|0.3524	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.59357|.	0.976;0.985;0.97;0.974|.	P;P;P;P|.	0.56127|.	0.637;0.792;0.651;0.603|.	T|T	0.68224|0.68224	-0.5465|-0.5465	10|5	0.59425|.	D|.	0.04|.	-17.277|-17.277	19.3041|19.3041	0.94153|0.94153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1400;1222;1222;790|.	F1T0I1;O15027-5;O15027-4;A4QN19|.	.;.;.;.|.	Y|L	1400;122;1222;1222;1222;790;324|96	ENSP00000325827:H1400Y;ENSP00000403525:H122Y;ENSP00000360771:H1222Y;ENSP00000290037:H1222Y;ENSP00000387583:H1222Y|.	ENSP00000290037:H1222Y|.	H|S	-|-	1|2	0|0	SEC16A|SEC16A	138480340|138480340	0.989000|0.989000	0.36119|0.36119	0.425000|0.425000	0.26659|0.26659	0.248000|0.248000	0.25809|0.25809	3.984000|3.984000	0.56923|0.56923	2.876000|2.876000	0.98609|0.98609	0.655000|0.655000	0.94253|0.94253	CAC|TCA		PASS	0.562	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		13	10	13	10	---	---	---	---
NDOR1	27158	broad.mit.edu	37	9	140109611	140109611	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:140109611C>T	ENST00000344894.5	+	9	1213	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	NDOR1_ENST00000458322.2_Missense_Mutation_p.P377L|NDOR1_ENST00000427047.2_Missense_Mutation_p.P343L|NDOR1_ENST00000371521.4_Missense_Mutation_p.P377L	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1									p.P377L(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GACCTCATCCCCGTTATCCGG	0.667																																						uc004clw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1129-1131)CCC>CTC		NADPH dependent diflavin oxidoreductase 1							80.0	66.0	70.0					9																	140109611		2201	4299	6500	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140109611C>T	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1130C>T	9.37:g.140109611C>T	ENSP00000343344:p.Pro377Leu					NDOR1_uc004clx.2_Missense_Mutation_p.P377L|NDOR1_uc011mes.1_Missense_Mutation_p.P377L|NDOR1_uc004cly.2_Missense_Mutation_p.P343L	p.P377L	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1241	+	all_cancers(76;0.0926)		377			FAD-binding FR-type.			Missense_Mutation	SNP	ENST00000344894.5	37	c.1130C>T	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123946	0.56613	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	4.57	3.67	0.42095	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.056793	0.64402	D	0.000001	D	0.94381	0.8193	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.997	D;D;D;D	0.79784	0.993;0.99;0.988;0.99	D	0.95493	0.8571	10	0.72032	D	0.01	-14.3798	13.769	0.63012	0.0:0.8444:0.1556:0.0	.	377;343;377;377	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	L	377;343;377;377	ENSP00000389905:P377L;ENSP00000394309:P343L;ENSP00000360576:P377L;ENSP00000343344:P377L	ENSP00000343344:P377L	P	+	2	0	NDOR1	139229432	0.980000	0.34600	0.586000	0.28679	0.005000	0.04900	2.150000	0.42254	1.054000	0.40438	-0.225000	0.12378	CCC		PASS	0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		4	9	4	9	---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140126166	140126166	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:140126166C>T	ENST00000538474.1	+	2	236	c.12C>T	c.(10-12)tcC>tcT	p.S4S	SLC34A3_ENST00000361134.2_Silent_p.S4S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	4					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.S4S(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGCCGAGTTCCCTTCCCGGCA	0.647																																						uc004cmf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)TCC>TCT		solute carrier family 34 (sodium phosphate),							105.0	117.0	113.0					9																	140126166		2203	4300	6503	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140126166C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.12C>T	9.37:g.140126166C>T						SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.S4S|SLC34A3_uc011met.1_Silent_p.S4S	p.S4S	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	198	+	all_cancers(76;0.0926)		4			Cytoplasmic (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.12C>T	CCDS7038.1																																																																																				PASS	0.647	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		27	14	27	14	---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435743	5435744	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:5435743_5435744CC>TT	ENST00000380419.3	-	4	1114_1115	c.1077_1078GG>AA	c.(1075-1080)aaGGtg>aaAAtg	p.V360M	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V320M	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.V360M(2)|p.K359K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGATGCCCACCTTGAAACCAG	0.569																																						uc001ihy.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(1078-1080)GTG>ATG|c.(1075-1077)AAG>AAA		tubulin, alpha-like 3																																				SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435743C>T|g.chr10:5435744C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1077_1078delinsTT	10.37:g.5435743_5435744delinsTT	ENSP00000369784:p.Val360Met					TUBAL3_uc001ihz.2_Missense_Mutation_p.V320M|TUBAL3_uc001ihz.2_Silent_p.K319K	p.V360M|p.K359K	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	1118|1117	-			360|359					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation|Silent	SNP	ENST00000380419.3	37	c.1078G>A|c.1077G>A	CCDS7066.2																																																																																				PASS	0.569	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		14	20|21	14	20	---	---	---	---
TUBAL3	79861	broad.mit.edu	37	10	5435781	5435781	+	Missense_Mutation	SNP	G	G	A	rs148029829		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:5435781G>A	ENST00000380419.3	-	4	1077	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S307F	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	347					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S347F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAACTGAACAGAGTGCCTCGA	0.577																																						uc001ihy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1039-1041)TCT>TTT		tubulin, alpha-like 3							89.0	81.0	84.0					10																	5435781		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435781G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1040C>T	10.37:g.5435781G>A	ENSP00000369784:p.Ser347Phe					TUBAL3_uc001ihz.2_Missense_Mutation_p.S307F	p.S347F	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	1080	-			347					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.1040C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262883	0.39995	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.82803	-1.65;-1.65	4.41	3.47	0.39725	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.124503	0.37669	N	0.001994	D	0.91945	0.7449	H	0.96604	3.85	0.42351	D	0.992375	P;D	0.57257	0.708;0.979	B;P	0.54815	0.209;0.761	D	0.94280	0.7519	10	0.87932	D	0	.	13.5998	0.62013	0.0:0.1575:0.8425:0.0	.	307;347	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	F	347;307	ENSP00000369784:S347F;ENSP00000418799:S307F	ENSP00000369784:S347F	S	-	2	0	TUBAL3	5425781	1.000000	0.71417	0.923000	0.36655	0.011000	0.07611	4.722000	0.61958	1.132000	0.42129	0.650000	0.86243	TCT		PASS	0.577	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		10	36	10	36	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5498921	5498921	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:5498921C>T	ENST00000355029.4	+	12	1897	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	NET1_ENST00000380359.3_Silent_p.A531A|NET1_ENST00000542715.1_Silent_p.A404A	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	585					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A531A(1)|p.A585A(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGGACAAAGCCCTTTCTGGTG	0.483																																						uc001iia.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1753-1755)GCC>GCT		neuroepithelial cell transforming gene 1 isoform							60.0	65.0	64.0					10																	5498921		2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498921C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1755C>T	10.37:g.5498921C>T						NET1_uc010qar.1_Silent_p.A404A|NET1_uc001iib.2_Silent_p.A531A|NET1_uc010qas.1_Silent_p.A404A	p.A585A	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			12	1893	+			585					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1755C>T	CCDS41483.1																																																																																				PASS	0.483	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		8	39	8	39	---	---	---	---
IL2RA	3559	broad.mit.edu	37	10	6063598	6063598	+	Silent	SNP	G	G	A	rs373429536		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000256876.6_Silent_p.F142F|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512																																						uc001iiz.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(424-426)TTC>TTT		interleukin 2 receptor, alpha chain precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						153.0	134.0	140.0					10																	6063598		2203	4300	6503	SO:0001819	synonymous_variant	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063598G>A	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.426C>T	10.37:g.6063598G>A						IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	p.F142F	NM_000417	NP_000408	P01589	IL2RA_HUMAN			4	585	-			142			Sushi 2.|Extracellular (Potential).		Q5W007	Silent	SNP	ENST00000379959.3	37	c.426C>T	CCDS7076.1																																																																																				PASS	0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		16	41	16	41	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7218107	7218107	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:7218107C>T	ENST00000361972.4	-	17	1919	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R610K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	610					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R610K(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GACCACAGCCCTGTATGTTTT	0.473																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1828-1830)AGG>AAG		Scm-like with four mbt domains 2							82.0	83.0	83.0					10																	7218107		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7218107C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1829G>A	10.37:g.7218107C>T	ENSP00000355109:p.Arg610Lys					SFMBT2_uc001ijn.1_Missense_Mutation_p.R610K|SFMBT2_uc010qay.1_Missense_Mutation_p.R445K	p.R610K	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			17	1920	-			610					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1829G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009634	0.93346	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.42900	0.96;0.96	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.66555	-0.5894	10	0.54805	T	0.06	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	610	Q5VUG0	SMBT2_HUMAN	K	610	ENSP00000355109:R610K;ENSP00000380353:R610K	ENSP00000355109:R610K	R	-	2	0	SFMBT2	7258113	1.000000	0.71417	0.999000	0.59377	0.463000	0.32649	7.362000	0.79507	2.776000	0.95493	0.655000	0.94253	AGG		PASS	0.473	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		16	47	16	47	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7239571	7239571	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:7239571C>T	ENST00000361972.4	-	15	1727	c.1637G>A	c.(1636-1638)gGa>gAa	p.G546E	SFMBT2_ENST00000397167.1_Missense_Mutation_p.G546E	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	546					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.G546E(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGCAATCCTTCCTTTGTTCAG	0.507																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1636-1638)GGA>GAA		Scm-like with four mbt domains 2							127.0	116.0	119.0					10																	7239571		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239571C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1637G>A	10.37:g.7239571C>T	ENSP00000355109:p.Gly546Glu					SFMBT2_uc001ijn.1_Missense_Mutation_p.G546E|SFMBT2_uc010qay.1_Intron	p.G546E	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			15	1728	-			546					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1637G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685737	0.88639	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.41400	1.0;1.0	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59648	-0.7415	10	0.37606	T	0.19	.	18.4708	0.90774	0.0:1.0:0.0:0.0	.	546	Q5VUG0	SMBT2_HUMAN	E	546	ENSP00000355109:G546E;ENSP00000380353:G546E	ENSP00000355109:G546E	G	-	2	0	SFMBT2	7279577	1.000000	0.71417	0.964000	0.40570	0.701000	0.40568	7.693000	0.84214	2.355000	0.79922	0.557000	0.71058	GGA		PASS	0.507	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	58	11	58	---	---	---	---
ATP5C1	509	broad.mit.edu	37	10	7829789	7829789	+	5'Flank	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:7829789C>T	ENST00000356708.7	+	0	0				KIN_ENST00000543003.1_5'UTR|KIN_ENST00000379562.4_Silent_p.R36R|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000535925.1_Silent_p.R36R|ATP5C1_ENST00000541227.1_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.R36R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TCACCTCGTCCCGGCACTGCT	0.642																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001ijt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(106-108)CGG>CGA		HsKin17 protein							89.0	91.0	90.0					10																	7829789		2203	4300	6503	SO:0001631	upstream_gene_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7829789C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		10.37:g.7829789C>T	Exception_encountered					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Silent_p.R36R|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank	p.R36R	NM_012311	NP_036443	O60870	KIN17_HUMAN			1	156	-			36			C2H2-type.		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	c.108G>A	CCDS31142.1																																																																																				PASS	0.642	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		17	60	17	60	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12162808	12162808	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:12162808C>T	ENST00000263035.4	+	17	2743	c.2681C>T	c.(2680-2682)cCt>cTt	p.P894L		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	894					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.P894L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GGCCGGCCCCCTTTGCCAGTA	0.478																																						uc001ild.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2680-2682)CCT>CTT		dehydrogenase E1 and transketolase domain							85.0	78.0	80.0					10																	12162808		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12162808C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2681C>T	10.37:g.12162808C>T	ENSP00000263035:p.Pro894Leu						p.P894L	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		17	2780	+		Renal(717;0.228)	894					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2681C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834084	0.50951	.	.	ENSG00000181192	ENST00000263035	T	0.05139	3.49	5.78	5.78	0.91487	.	0.323825	0.37304	N	0.002155	T	0.17152	0.0412	M	0.82716	2.605	0.53688	D	0.999976	B	0.19935	0.04	B	0.28991	0.097	T	0.01879	-1.1255	10	0.87932	D	0	-5.7264	19.6057	0.95580	0.0:1.0:0.0:0.0	.	894	Q96HY7	DHTK1_HUMAN	L	894	ENSP00000263035:P894L	ENSP00000263035:P894L	P	+	2	0	DHTKD1	12202814	1.000000	0.71417	0.997000	0.53966	0.422000	0.31414	6.713000	0.74686	2.722000	0.93159	0.655000	0.94253	CCT		PASS	0.478	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		7	26	7	26	---	---	---	---
PHYH	5264	broad.mit.edu	37	10	13323110	13323111	+	Splice_Site	DNP	CC	CC	TG			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:13323110_13323111CC>TG	ENST00000263038.4	-	8	887	c.829_829GG>CA	c.(829-831)GGgc>CAggc	p.G277Q	PHYH_ENST00000396920.3_Splice_Site_p.G260Q|PHYH_ENST00000396913.2_Splice_Site_p.G177Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	277					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.?(2)|p.A277T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CAGGAAATTGCCTGTGCAAAGT	0.416																																						uc001imf.2																			3	Unknown(2)|Substitution - Missense(1)		lung(3)		0						c.(829-831)GCA>ACA|c.e8-1		phytanoyl-CoA 2-hydroxylase isoform a precursor	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)																																			SO:0001630	splice_region_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13323110C>T|g.chr10:13323111C>G		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.829_829delinsTG	10.37:g.13323110_13323111delinsTG						PHYH_uc001ime.2_Missense_Mutation_p.A177T|PHYH_uc001img.2_Missense_Mutation_p.A260T|PHYH_uc001ime.2_Splice_Site_p.A177_splice|PHYH_uc001img.2_Splice_Site_p.A260_splice	p.A277T|p.A277_splice	NM_006214	NP_006205	O14832	PAHX_HUMAN			8	917	-		Ovarian(717;0.0448)	277|					A8MTS8|B1ALH5	Missense_Mutation|Splice_Site	SNP	ENST00000263038.4	37	c.829G>A|c.829_splice	CCDS7097.1																																																																																				PASS	0.416	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		Missense_Mutation	8	25|24	8	24	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15614224	15614224	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:15614224G>A	ENST00000378076.3	-	25	2976	c.2623C>T	c.(2623-2625)Cca>Tca	p.P875S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	875					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.P875S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATATCCTGTGGATTGATATTA	0.388																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(2623-2625)CCA>TCA		integrin, alpha 8 precursor							75.0	77.0	76.0					10																	15614224		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15614224G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2623C>T	10.37:g.15614224G>A	ENSP00000367316:p.Pro875Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.P860S	p.P875S	NM_003638	NP_003629	P53708	ITA8_HUMAN			25	2623	-			875			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2623C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375891	0.24857	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.59638	0.25	5.79	4.79	0.61399	Integrin alpha-2 (1);	0.232572	0.46758	D	0.000264	T	0.41719	0.1171	L	0.35593	1.075	0.43588	D	0.995939	B;B	0.23591	0.072;0.088	B;B	0.24541	0.032;0.054	T	0.43637	-0.9379	10	0.51188	T	0.08	.	4.3962	0.11363	0.1196:0.0:0.5069:0.3735	.	860;875	F5H818;P53708	.;ITA8_HUMAN	S	875;860	ENSP00000367316:P875S	ENSP00000367316:P875S	P	-	1	0	ITGA8	15654230	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.984000	0.40658	2.734000	0.93682	0.655000	0.94253	CCA		PASS	0.388	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		16	38	16	38	---	---	---	---
RSU1	6251	broad.mit.edu	37	10	16796894	16796894	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16796894G>A	ENST00000377921.3	-	4	677	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.L73F|RSU1_ENST00000345264.5_Missense_Mutation_p.L126F			Q15404	RSU1_HUMAN	Ras suppressor protein 1	126					cell junction assembly (GO:0034329)|positive regulation of neural precursor cell proliferation (GO:2000179)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.L126F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		TTTCCAGGAAGAGAATTTTCG	0.448																																						uc001iok.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(376-378)CTT>TTT		ras suppressor protein 1 isoform 2							79.0	89.0	86.0					10																	16796894		2203	4300	6503	SO:0001583	missense	6251				cell junction assembly|signal transduction	cytosol	protein binding	g.chr10:16796894G>A	AK055596	CCDS7112.1, CCDS31157.1	10p13	2012-09-20			ENSG00000148484	ENSG00000148484			10464	protein-coding gene	gene with protein product		179555				8288261	Standard	NM_152724		Approved	RSP-1, FLJ31034	uc001iol.3	Q15404	OTTHUMG00000017740	ENST00000377921.3:c.376C>T	10.37:g.16796894G>A	ENSP00000367154:p.Leu126Phe					RSU1_uc001iol.2_Missense_Mutation_p.L126F|RSU1_uc001iom.2_Missense_Mutation_p.L73F|RSU1_uc001ion.2_Missense_Mutation_p.L126F	p.L126F	NM_152724	NP_689937	Q15404	RSU1_HUMAN		GBM - Glioblastoma multiforme(1;7.54e-08)	4	678	-			126			LRR 4.		A8KA46|D3DRU3|Q6FI17	Missense_Mutation	SNP	ENST00000377921.3	37	c.376C>T	CCDS7112.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537260	0.85812	.	.	ENSG00000148484	ENST00000345264;ENST00000377921;ENST00000377911	T;T	0.59638	0.25;0.25	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	L	0.45352	1.415	0.80722	D	1	D;P	0.69078	0.997;0.64	D;B	0.75484	0.986;0.257	T	0.69720	-0.5069	10	0.44086	T	0.13	.	18.6717	0.91514	0.0:0.0:1.0:0.0	.	126;126	B0YJ73;Q15404	.;RSU1_HUMAN	F	126;126;73	ENSP00000339521:L126F;ENSP00000367154:L126F	ENSP00000339521:L126F	L	-	1	0	RSU1	16836900	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.091000	0.94151	2.409000	0.81822	0.655000	0.94253	CTT		PASS	0.448	RSU1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047006.1	NM_012425, NM_152724		21	39	21	39	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16867061	16867061	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16867061G>A	ENST00000377833.4	-	67	10850	c.10785C>T	c.(10783-10785)ttC>ttT	p.F3595F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3595	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.F3595F(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGAAGCCACGAAGGGAGCTA	0.378																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10783-10785)TTC>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	58.0	61.0					10																	16867061		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16867061G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10785C>T	10.37:g.16867061G>A							p.F3595F	NM_001081	NP_001072	O60494	CUBN_HUMAN			67	10837	-			3595			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.10785C>T	CCDS7113.1																																																																																				PASS	0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	18	6	18	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16955826	16955826	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16955826T>A	ENST00000377833.4	-	48	7582	c.7517A>T	c.(7516-7518)aAc>aTc	p.N2506I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2506	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N2506I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCTCATTGTTGCAGGACGG	0.493																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7516-7518)AAC>ATC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						140.0	126.0	130.0					10																	16955826		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955826T>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7517A>T	10.37:g.16955826T>A	ENSP00000367064:p.Asn2506Ile						p.N2506I	NM_001081	NP_001072	O60494	CUBN_HUMAN			48	7569	-			2506			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7517A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132583	0.21041	.	.	ENSG00000107611	ENST00000377833	T	0.27720	1.65	5.41	-6.2	0.02072	CUB (5);	1.253260	0.05602	N	0.576527	T	0.22742	0.0549	L	0.31207	0.915	0.09310	N	1	B	0.22746	0.074	B	0.24269	0.052	T	0.31392	-0.9945	10	0.42905	T	0.14	.	13.1193	0.59316	0.0:0.6385:0.1082:0.2533	.	2506	O60494	CUBN_HUMAN	I	2506	ENSP00000367064:N2506I	ENSP00000367064:N2506I	N	-	2	0	CUBN	16995832	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.556000	0.02168	-1.294000	0.02360	-0.386000	0.06593	AAC		PASS	0.493	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	76	15	76	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16957035	16957035	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16957035C>T	ENST00000377833.4	-	47	7412	c.7347G>A	c.(7345-7347)atG>atA	p.M2449I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2449					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.M2449I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCACCTTCCATACTGGATT	0.428																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(7345-7347)ATG>ATA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						82.0	68.0	73.0					10																	16957035		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16957035C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7347G>A	10.37:g.16957035C>T	ENSP00000367064:p.Met2449Ile						p.M2449I	NM_001081	NP_001072	O60494	CUBN_HUMAN			47	7399	-			2449					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.7347G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637396	0.14386	.	.	ENSG00000107611	ENST00000377833	T	0.74842	-0.88	5.1	-8.29	0.01009	.	2.812850	0.01129	N	0.005953	T	0.43656	0.1257	N	0.04655	-0.195	0.41765	D	0.989739	B	0.02656	0.0	B	0.06405	0.002	T	0.28170	-1.0052	10	0.20046	T	0.44	.	2.0043	0.03474	0.3643:0.2818:0.0712:0.2827	.	2449	O60494	CUBN_HUMAN	I	2449	ENSP00000367064:M2449I	ENSP00000367064:M2449I	M	-	3	0	CUBN	16997041	0.002000	0.14202	0.000000	0.03702	0.008000	0.06430	-0.147000	0.10234	-1.387000	0.02095	-0.225000	0.12378	ATG		PASS	0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	15	6	15	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967273	16967273	+	Missense_Mutation	SNP	C	C	T	rs140883483		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16967273C>T	ENST00000377833.4	-	43	6678	c.6613G>A	c.(6613-6615)Gga>Aga	p.G2205R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2205	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G2205R(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTTTAAATCCTTGCCCTTCA	0.328																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6613-6615)GGA>AGA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	ARG/GLY	0,4406		0,0,2203	64.0	65.0	64.0		6613	5.1	1.0	10	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	CUBN	NM_001081.3	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	2205/3624	16967273	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16967273C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6613G>A	10.37:g.16967273C>T	ENSP00000367064:p.Gly2205Arg						p.G2205R	NM_001081	NP_001072	O60494	CUBN_HUMAN			43	6665	-			2205			CUB 15.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6613G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427116	0.83667	0.0	2.33E-4	ENSG00000107611	ENST00000377833	T	0.35973	1.28	5.08	5.08	0.68730	CUB (5);	0.000000	0.46145	D	0.000311	T	0.71434	0.3339	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78513	-0.2175	10	0.49607	T	0.09	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	2205	O60494	CUBN_HUMAN	R	2205	ENSP00000367064:G2205R	ENSP00000367064:G2205R	G	-	1	0	CUBN	17007279	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.101000	0.76997	2.662000	0.90505	0.655000	0.94253	GGA		PASS	0.328	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	30	10	30	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967623	16967623	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:16967623G>A	ENST00000377833.4	-	42	6487	c.6422C>T	c.(6421-6423)cCa>cTa	p.P2141L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2141	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P2141L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCTCCATTTGGAATCTGGAA	0.443																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(6421-6423)CCA>CTA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						61.0	61.0	61.0					10																	16967623		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16967623G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6422C>T	10.37:g.16967623G>A	ENSP00000367064:p.Pro2141Leu						p.P2141L	NM_001081	NP_001072	O60494	CUBN_HUMAN			42	6474	-			2141			CUB 15.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6422C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644462	0.29246	.	.	ENSG00000107611	ENST00000377833	T	0.28454	1.61	5.65	2.61	0.31194	CUB (5);	0.530352	0.15853	N	0.241437	T	0.19765	0.0475	L	0.35854	1.095	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.08932	-1.0698	10	0.35671	T	0.21	.	3.0691	0.06224	0.1395:0.1114:0.4828:0.2663	.	2141	O60494	CUBN_HUMAN	L	2141	ENSP00000367064:P2141L	ENSP00000367064:P2141L	P	-	2	0	CUBN	17007629	0.267000	0.24122	0.970000	0.41538	0.996000	0.88848	0.123000	0.15708	0.702000	0.31825	0.655000	0.94253	CCA		PASS	0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		24	33	24	33	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17032459	17032459	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17032459G>A	ENST00000377833.4	-	29	4289	c.4224C>T	c.(4222-4224)ccC>ccT	p.P1408P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1408	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P1408P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATACCTGTTGGGGAACCCGG	0.522																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4222-4224)CCC>CCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						100.0	99.0	99.0					10																	17032459		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032459G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4224C>T	10.37:g.17032459G>A							p.P1408P	NM_001081	NP_001072	O60494	CUBN_HUMAN			29	4276	-			1408			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4224C>T	CCDS7113.1																																																																																				PASS	0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		9	27	9	27	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17087150	17087150	+	Silent	SNP	G	G	A	rs539850576	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17087150G>A	ENST00000377833.4	-	25	3593	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1176	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.F1176F(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGAGATATGAACGTGCCGC	0.478													G|||	5	0.000998403	0.0	0.0	5008	,	,		15434	0.0		0.0	False		,,,				2504	0.0051					uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3526-3528)TTC>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						162.0	151.0	154.0					10																	17087150		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17087150G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3528C>T	10.37:g.17087150G>A							p.F1176F	NM_001081	NP_001072	O60494	CUBN_HUMAN			25	3580	-			1176			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.3528C>T	CCDS7113.1																																																																																				PASS	0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		23	42	23	42	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17088080	17088080	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17088080C>T	ENST00000377833.4	-	24	3408	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1115	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E1115K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATTTTTCATAGCCTCCA	0.323																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3343-3345)GAA>AAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72.0	69.0	70.0					10																	17088080		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17088080C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3343G>A	10.37:g.17088080C>T	ENSP00000367064:p.Glu1115Lys						p.E1115K	NM_001081	NP_001072	O60494	CUBN_HUMAN			24	3395	-			1115			CUB 6.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3343G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524730	0.85600	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.66	4.74	0.60224	CUB (5);	0.000000	0.45126	D	0.000392	T	0.41213	0.1149	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.35301	-0.9794	10	0.52906	T	0.07	.	15.3732	0.74584	0.1407:0.8593:0.0:0.0	.	1115	O60494	CUBN_HUMAN	K	1115	ENSP00000367064:E1115K	ENSP00000367064:E1115K	E	-	1	0	CUBN	17128086	1.000000	0.71417	0.990000	0.47175	0.818000	0.46254	7.079000	0.76829	1.328000	0.45358	0.551000	0.68910	GAA		PASS	0.323	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	16	7	16	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17113553	17113553	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17113553G>A	ENST00000377833.4	-	19	2562	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	833	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.P833S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACACGTTAGGAAAAAAAGGC	0.418																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2497-2499)CCT>TCT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						73.0	74.0	74.0					10																	17113553		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113553G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2497C>T	10.37:g.17113553G>A	ENSP00000367064:p.Pro833Ser						p.P833S	NM_001081	NP_001072	O60494	CUBN_HUMAN			19	2549	-			833			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2497C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458940	0.63401	.	.	ENSG00000107611	ENST00000377833	T	0.64991	-0.13	5.47	5.47	0.80525	CUB (5);	0.000000	0.40064	N	0.001190	D	0.83848	0.5343	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87114	0.2187	10	0.56958	D	0.05	.	15.0346	0.71734	0.0:0.0:0.8572:0.1428	.	833	O60494	CUBN_HUMAN	S	833	ENSP00000367064:P833S	ENSP00000367064:P833S	P	-	1	0	CUBN	17153559	1.000000	0.71417	0.730000	0.30809	0.480000	0.33159	6.534000	0.73833	2.576000	0.86940	0.502000	0.49764	CCT		PASS	0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		24	32	24	32	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17275769	17275769	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17275769G>A	ENST00000224237.5	+	4	866	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Splice_Site_p.E241K			P08670	VIME_HUMAN	vimentin	241	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E241K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTTTTGCAGGAAATCCAGGA	0.542																																						uc001iou.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(721-723)GAA>AAA		vimentin							74.0	69.0	71.0					10																	17275769		2203	4300	6503	SO:0001630	splice_region_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275769G>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.721-1G>A	10.37:g.17275769G>A						VIM_uc001iov.1_Missense_Mutation_p.E241K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E241K|VIM_uc001ioy.1_Missense_Mutation_p.E241K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E241K|VIM_uc001ipc.1_Missense_Mutation_p.E241K	p.E241K	NM_003380	NP_003371	P08670	VIME_HUMAN			5	1134	+			241			Rod.|Coil 1B.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.721G>A	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066037	0.93898	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533;ENST00000421459	D;D;D	0.96232	-3.95;-3.95;-3.95	5.66	5.66	0.87406	Filament (1);	0.000000	0.47852	D	0.000213	D	0.98833	0.9606	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.992;0.999;0.999;0.995	D	0.99218	1.0878	9	.	.	.	.	20.1207	0.97960	0.0:0.0:1.0:0.0	.	241;228;228;241;241	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	K	241;241;228;67	ENSP00000446007:E241K;ENSP00000224237:E241K;ENSP00000391842:E67K	.	E	+	1	0	VIM	17315775	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.789000	0.99068	2.826000	0.97356	0.637000	0.83480	GAA		PASS	0.542	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380	Missense_Mutation	9	33	9	33	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17363050	17363050	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17363050C>T	ENST00000377602.4	-	8	1098	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	342					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.G342R(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GGCCAGAATCCATACAGCTTC	0.438																																						uc001ipd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)GGA>AGA		ST8 alpha-N-acetyl-neuraminide							199.0	189.0	193.0					10																	17363050		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363050C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1024G>A	10.37:g.17363050C>T	ENSP00000366827:p.Gly342Arg					ST8SIA6_uc010qce.1_RNA	p.G342R	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	1024	-			342			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.1024G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906373	0.92107	.	.	ENSG00000148488	ENST00000377602	T	0.63417	-0.04	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.86573	0.5965	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90094	0.4179	10	0.87932	D	0	-8.1289	19.5559	0.95347	0.0:1.0:0.0:0.0	.	342	P61647	SIA8F_HUMAN	R	342	ENSP00000366827:G342R	ENSP00000366827:G342R	G	-	1	0	ST8SIA6	17403056	1.000000	0.71417	0.930000	0.37139	0.857000	0.48899	7.651000	0.83577	2.861000	0.98227	0.650000	0.86243	GGA		PASS	0.438	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		24	81	24	81	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17363177	17363177	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17363177G>A	ENST00000377602.4	-	8	971	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	299					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.F299F(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTTGGGATGGAAAAATAGAA	0.463																																						uc001ipd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(895-897)TTC>TTT		ST8 alpha-N-acetyl-neuraminide							182.0	185.0	184.0					10																	17363177		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363177G>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.897C>T	10.37:g.17363177G>A						ST8SIA6_uc010qce.1_RNA	p.F299F	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	897	-			299			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.897C>T	CCDS31158.1																																																																																				PASS	0.463	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		40	132	40	132	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17641303	17641303	+	Silent	SNP	G	G	A	rs138699109		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17641303G>A	ENST00000361271.3	-	5	628	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	197					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.F197F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CCCATTTAATGAAGTATGGCA	0.443																																						uc001ipg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(589-591)TTC>TTT		protein tyrosine phosphatase-like, member A		G		0,4406		0,0,2203	126.0	106.0	113.0		591	5.5	1.0	10	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTPLA	NM_014241.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		197/289	17641303	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17641303G>A	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.591C>T	10.37:g.17641303G>A							p.F197F	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			5	626	-			197			Cytoplasmic (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Silent	SNP	ENST00000361271.3	37	c.591C>T	CCDS7121.1																																																																																				PASS	0.443	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		21	22	21	22	---	---	---	---
MRC1	4360	broad.mit.edu	37	10	17949609	17949609	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:17949609C>T	ENST00000331429.2	+	28	4076	c.3973C>T	c.(3973-3975)Ccc>Tcc	p.P1325S															p.P1325S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGGAGATCCCTCTGGTGA	0.398																																						uc001ipk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3973-3975)CCC>TCC		mannose receptor C type 1 precursor							70.0	73.0	72.0					10																	17949609		2180	4278	6458	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949609C>T																												ENST00000331429.2:c.3973C>T	10.37:g.17949609C>T	ENSP00000332124:p.Pro1325Ser						p.P1325S	NM_002438	NP_002429	P22897	MRC1_HUMAN			28	4076	+			1325			Extracellular (Potential).|C-type lectin 8.			Missense_Mutation	SNP	ENST00000331429.2	37	c.3973C>T		.	.	.	.	.	.	.	.	.	.	.	13.77	2.337279	0.41398	.	.	ENSG00000183748	ENST00000331429	T	0.70631	-0.5	4.04	4.04	0.47022	.	0.000000	0.53938	U	0.000049	D	0.82834	0.5123	.	.	.	0.44136	D	0.996922	D	0.89917	1.0	D	0.97110	1.0	D	0.84423	0.0572	8	0.39692	T	0.17	-19.7607	16.0363	0.80631	0.0:1.0:0.0:0.0	.	1325	B9EJA8	.	S	1325	ENSP00000332124:P1325S	ENSP00000332124:P1325S	P	+	1	0	AL928580.1	17989615	0.997000	0.39634	0.866000	0.34008	0.036000	0.12997	5.727000	0.68523	2.086000	0.62901	0.508000	0.49915	CCC		PASS	0.398	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			17	29	17	29	---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834989	18834989	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:18834989G>A	ENST00000377304.4	-	11	1701	c.1283C>T	c.(1282-1284)gCt>gTt	p.A428V	RP11-499P20.2_ENST00000436485.1_RNA|RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'Flank	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	428							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.A428V(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TAATGGCACAGCCGATGGATC	0.478																																						uc010qcp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1282-1284)GCT>GTT		NOL1/NOP2/Sun domain family, member 6							180.0	176.0	177.0					10																	18834989		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18834989G>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1283C>T	10.37:g.18834989G>A	ENSP00000366519:p.Ala428Val					NSUN6_uc001iqb.2_5'Flank	p.A428V	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			11	1701	-			428					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.1283C>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143998	0.37825	.	.	ENSG00000241058	ENST00000377304	T	0.32023	1.47	5.5	-3.03	0.05429	.	0.877482	0.10296	N	0.691778	T	0.12135	0.0295	N	0.08118	0	0.26272	N	0.978414	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	10	0.02654	T	1	.	11.7072	0.51603	0.1835:0.0:0.691:0.1256	.	428	Q8TEA1	NSUN6_HUMAN	V	428	ENSP00000366519:A428V	ENSP00000366519:A428V	A	-	2	0	NSUN6	18874995	0.000000	0.05858	0.782000	0.31804	0.965000	0.64279	-0.747000	0.04823	-0.455000	0.07054	0.655000	0.94253	GCT		PASS	0.478	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		51	95	51	95	---	---	---	---
THNSL1	79896	broad.mit.edu	37	10	25312772	25312772	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:25312772C>T	ENST00000524413.1	+	3	967	c.620C>T	c.(619-621)gCt>gTt	p.A207V	THNSL1_ENST00000376356.4_Missense_Mutation_p.A207V			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	207						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A207V(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GAAAGTGGGGCTTCCCCAGAG	0.398																																						uc001isi.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(619-621)GCT>GTT		threonine synthase-like 1	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						93.0	95.0	95.0					10																	25312772		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25312772C>T	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.620C>T	10.37:g.25312772C>T	ENSP00000434887:p.Ala207Val					ENKUR_uc001ish.1_Intron	p.A207V	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN			3	949	+			207					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.620C>T	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862578	0.32884	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.44881	0.91;0.91	5.93	5.0	0.66597	.	0.520166	0.19449	N	0.113993	T	0.24005	0.0581	N	0.14661	0.345	0.30256	N	0.793632	B	0.30146	0.27	B	0.28011	0.085	T	0.17440	-1.0369	10	0.59425	D	0.04	-22.7144	5.7039	0.17897	0.3395:0.5579:0.0:0.1026	.	207	Q8IYQ7	THNS1_HUMAN	V	207	ENSP00000434887:A207V;ENSP00000365534:A207V	ENSP00000365534:A207V	A	+	2	0	THNSL1	25352778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.507000	0.45442	1.443000	0.47586	0.650000	0.86243	GCT		PASS	0.398	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		12	56	12	56	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887663	25887664	+	Missense_Mutation	DNP	GG	GG	AA	rs12412738	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:25887663_25887664GG>AA	ENST00000376351.3	+	11	3467_3468	c.3108_3109GG>AA	c.(3106-3111)atGGag>atAAag	p.1036_1037ME>IK	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1036					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1036I(1)|p.M1036_E1037>IK(1)|p.E1037K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTTCTGAAATGGAGAAAAACCC	0.46																																						uc001isj.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3106-3108)ATG>ATA|c.(3109-3111)GAG>AAG		G protein-coupled receptor 158 precursor																																				SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887663G>A|g.chr10:25887664G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	Exception_encountered	10.37:g.25887663_25887664delinsAA	ENSP00000365529:p.M1036_E1037delinsIK					GPR158_uc001isk.2_Missense_Mutation_p.M411I|GPR158_uc001isk.2_Missense_Mutation_p.E412K	p.M1036I|p.E1037K	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3168|3169	+			1036|1037			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3108G>A|c.3109G>A	CCDS31166.1																																																																																				PASS	0.460	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		10|11	46|48	10	46	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26414347	26414347	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:26414347C>T	ENST00000265944.5	+	19	2090	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	642	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R642W(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCTTTGCATTCGGGCAGATGA	0.418																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1924-1926)CGG>TGG		myosin IIIA							85.0	77.0	79.0					10																	26414347		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414347C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1924C>T	10.37:g.26414347C>T	ENSP00000265944:p.Arg642Trp					MYO3A_uc009xko.1_Missense_Mutation_p.R642W|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R642W	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2284	+			642			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1924C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966957	0.92855	.	.	ENSG00000095777	ENST00000265944	D	0.87412	-2.25	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.106957	0.64402	D	0.000003	D	0.90920	0.7146	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	D	0.91028	0.4862	10	0.72032	D	0.01	.	20.2873	0.98536	0.0:1.0:0.0:0.0	.	642	Q8NEV4	MYO3A_HUMAN	W	642	ENSP00000265944:R642W	ENSP00000265944:R642W	R	+	1	2	MYO3A	26454353	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.196000	0.51020	2.799000	0.96334	0.585000	0.79938	CGG		PASS	0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		19	27	19	27	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26414396	26414396	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:26414396G>A	ENST00000265944.5	+	19	2139	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	658	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R658K(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGGTCACTAGAGGAGAAACA	0.428																																						uc001isn.2																			1	Substitution - Missense(1)	p.R658G(1)	lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(1972-1974)AGA>AAA		myosin IIIA							108.0	103.0	105.0					10																	26414396		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26414396G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1973G>A	10.37:g.26414396G>A	ENSP00000265944:p.Arg658Lys					MYO3A_uc009xko.1_Missense_Mutation_p.R658K|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R658K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			19	2333	+			658			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1973G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543608	0.96474	.	.	ENSG00000095777	ENST00000265944	D	0.86694	-2.16	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	L	0.61218	1.895	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	D	0.90154	0.4223	10	0.36615	T	0.2	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	658	Q8NEV4	MYO3A_HUMAN	K	658	ENSP00000265944:R658K	ENSP00000265944:R658K	R	+	2	0	MYO3A	26454402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.799000	0.96334	0.585000	0.79938	AGA		PASS	0.428	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		27	44	27	44	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26781271	26781271	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:26781271G>A	ENST00000376236.4	+	3	471	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E6K	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	6					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.E6K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGAGTCAAGTGAAGACATAGA	0.408																																						uc001iss.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(16-18)GAA>AAA		amyloid beta (A4) precursor protein-binding,							148.0	138.0	141.0					10																	26781271		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26781271G>A	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.16G>A	10.37:g.26781271G>A	ENSP00000365411:p.Glu6Lys					APBB1IP_uc001isr.2_Missense_Mutation_p.E6K|APBB1IP_uc009xks.1_Missense_Mutation_p.E6K	p.E6K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			3	337	+			6					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.16G>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642783	0.67244	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.33865	1.39	5.5	5.5	0.81552	.	0.385729	0.31577	N	0.007420	T	0.35913	0.0948	L	0.40543	1.245	0.47308	D	0.999383	P;P;P	0.44429	0.835;0.546;0.787	B;B;B	0.41510	0.199;0.115;0.359	T	0.20672	-1.0268	10	0.72032	D	0.01	.	17.9328	0.89004	0.0:0.0:1.0:0.0	.	6;6;6	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	K	6	ENSP00000365411:E6K	ENSP00000349237:E6K	E	+	1	0	APBB1IP	26821277	1.000000	0.71417	0.855000	0.33649	0.980000	0.70556	7.009000	0.76347	2.745000	0.94114	0.491000	0.48974	GAA		PASS	0.408	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		19	27	19	27	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26800681	26800681	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:26800681C>T	ENST00000376236.4	+	7	992	c.537C>T	c.(535-537)gtC>gtT	p.V179V	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	179	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.V179V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTCAGCTCGTCGTCAAGGTGC	0.458																																						uc001iss.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(535-537)GTC>GTT		amyloid beta (A4) precursor protein-binding,							103.0	92.0	96.0					10																	26800681		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26800681C>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.537C>T	10.37:g.26800681C>T						APBB1IP_uc009xks.1_Silent_p.V179V	p.V179V	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			7	858	+			179			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.537C>T	CCDS31167.1																																																																																				PASS	0.458	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		16	35	16	35	---	---	---	---
WAC	51322	broad.mit.edu	37	10	28878666	28878666	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:28878666C>T	ENST00000354911.4	+	5	544	c.383C>T	c.(382-384)cCt>cTt	p.P128L	WAC_ENST00000428935.1_Splice_Site_p.P83L|WAC_ENST00000375646.1_Splice_Site_p.P83L|WAC_ENST00000347934.4_Splice_Site_p.P128L|WAC_ENST00000375664.4_Splice_Site_p.P83L	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	128					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.P128L(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						ATTTTTAAGCCTTATGATTCT	0.308																																						uc001iuf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(382-384)CCT>CTT		WW domain-containing adapter with a coiled-coil							58.0	62.0	61.0					10																	28878666		2202	4299	6501	SO:0001630	splice_region_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.chr10:28878666C>T	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.382-1C>T	10.37:g.28878666C>T						WAC_uc001iud.2_Missense_Mutation_p.P83L|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.P83L|WAC_uc001iug.2_Missense_Mutation_p.P128L|WAC_uc001iuh.2_Missense_Mutation_p.P83L	p.P128L	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			5	468	+			128					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.383C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117331	0.56505	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	T;T;T;T;T;T;T	0.50548	1.8;1.78;1.79;1.8;1.31;0.74;0.74	5.38	4.48	0.54585	.	0.286272	0.41938	D	0.000781	T	0.35740	0.0942	N	0.24115	0.695	0.53688	D	0.99997	B;B;B	0.23990	0.095;0.0;0.0	B;B;B	0.28232	0.087;0.001;0.0	T	0.11108	-1.0601	10	0.26408	T	0.33	-17.8002	14.4982	0.67704	0.0:0.9287:0.0:0.0713	.	83;128;128	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	L	83;83;128;128;83;83;83;83;83;83	ENSP00000364816:P83L;ENSP00000364797:P83L;ENSP00000311106:P128L;ENSP00000346986:P128L;ENSP00000399706:P83L;ENSP00000404758:P83L;ENSP00000415645:P83L	ENSP00000311106:P128L	P	+	2	0	WAC	28918672	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.803000	0.69129	1.408000	0.46895	0.563000	0.77884	CCT		PASS	0.308	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Missense_Mutation	13	40	13	40	---	---	---	---
WAC	51322	broad.mit.edu	37	10	28905255	28905255	+	Silent	SNP	C	C	T	rs141367539		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:28905255C>T	ENST00000354911.4	+	12	1871	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	WAC_ENST00000375646.1_Silent_p.H418H|WAC_ENST00000347934.4_Silent_p.H467H|WAC_ENST00000375664.4_Silent_p.H525H	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	570					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.H570H(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						TCATAAAACACGTTCAAGGAT	0.413																																						uc001iuf.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1708-1710)CAC>CAT		WW domain-containing adapter with a coiled-coil		C	,	1,4405	2.1+/-5.4	0,1,2202	99.0	86.0	90.0		1710,1401	-1.6	1.0	10	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WAC	NM_016628.4,NM_100486.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	570/648,467/545	28905255	1,13005	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.chr10:28905255C>T	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.1710C>T	10.37:g.28905255C>T						WAC_uc001iud.2_Silent_p.H525H|WAC_uc001iue.2_Silent_p.H260H|WAC_uc001iug.2_Silent_p.H467H|WAC_uc001iuh.2_Silent_p.H521H	p.H570H	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			12	1795	+			570					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.1710C>T	CCDS7159.1																																																																																				PASS	0.413	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		9	34	9	34	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29779793	29779793	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:29779793C>A	ENST00000355867.4	-	22	4927	c.4175G>T	c.(4174-4176)cGg>cTg	p.R1392L	SVIL_ENST00000375398.2_Missense_Mutation_p.R1392L|SVIL_ENST00000538146.1_Missense_Mutation_p.R184L|SVIL_ENST00000535393.1_Missense_Mutation_p.R306L|SVIL_ENST00000375400.3_Missense_Mutation_p.R966L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1392					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R1392L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TACTTTCATCCGCTTTGACTC	0.473																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(4174-4176)CGG>CTG		supervillin isoform 2							85.0	87.0	87.0					10																	29779793		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779793C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4175G>T	10.37:g.29779793C>A	ENSP00000348128:p.Arg1392Leu					SVIL_uc010qdw.1_Missense_Mutation_p.R306L|SVIL_uc001iuu.1_Missense_Mutation_p.R966L|SVIL_uc009xlc.2_Missense_Mutation_p.R184L	p.R1392L	NM_021738	NP_068506	O95425	SVIL_HUMAN			22	4928	-		Breast(68;0.103)	1392					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4175G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395642	0.42512	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.85861	2.39;2.36;2.36;2.28;-2.04	3.88	2.98	0.34508	.	0.107337	0.64402	D	0.000012	D	0.90590	0.7050	M	0.75777	2.31	0.49915	D	0.999839	P;D;P;D	0.89917	0.917;0.998;0.73;1.0	P;D;B;D	0.72625	0.855;0.97;0.429;0.978	D	0.90629	0.4565	10	0.87932	D	0	-20.8405	11.3688	0.49687	0.0:0.9105:0.0:0.0895	.	306;184;966;1392	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	966;1392;1392;306;346;184	ENSP00000364549:R966L;ENSP00000364547:R1392L;ENSP00000348128:R1392L;ENSP00000445472:R306L;ENSP00000440343:R184L	ENSP00000348128:R1392L	R	-	2	0	SVIL	29819799	1.000000	0.71417	0.986000	0.45419	0.007000	0.05969	7.222000	0.78025	0.848000	0.35191	-0.350000	0.07774	CGG		PASS	0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			5	42	5	42	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30315231	30315231	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:30315231C>T	ENST00000375377.1	-	3	3947	c.3846G>A	c.(3844-3846)caG>caA	p.Q1282Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1282					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.Q1282Q(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGGCGTCCTCCTGGGAGTCGG	0.637																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3844-3846)CAG>CAA		hypothetical protein LOC57608							47.0	46.0	46.0					10																	30315231		1926	4123	6049	SO:0001819	synonymous_variant	57608							g.chr10:30315231C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3846G>A	10.37:g.30315231C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Q1144Q|KIAA1462_uc009xle.1_Silent_p.Q1282Q	p.Q1282Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	3905	-			1282					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.3846G>A	CCDS41500.1																																																																																				PASS	0.637	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		12	19	12	19	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30317559	30317560	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:30317559_30317560CC>TT	ENST00000375377.1	-	3	1618_1619	c.1517_1518GG>AA	c.(1516-1518)gGG>gAA	p.G506E		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	506					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.G506E(2)|p.G506G(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTCCCCATCCCCGGGGGGCTG	0.644																																						uc001iux.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)	4						c.(1516-1518)GGG>GGA|c.(1516-1518)GGG>GAG		hypothetical protein LOC57608																																				SO:0001583	missense	57608							g.chr10:30317559C>T|g.chr10:30317560C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1517_1518delinsTT	10.37:g.30317559_30317560delinsTT	ENSP00000364526:p.Gly506Glu					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.G368G|KIAA1462_uc009xle.1_Silent_p.G506G|KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.G368E|KIAA1462_uc009xle.1_Missense_Mutation_p.G506E	p.G506G|p.G506E	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1577|1576	-			506					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent|Missense_Mutation	SNP	ENST00000375377.1	37	c.1518G>A|c.1517G>A	CCDS41500.1																																																																																				PASS	0.644	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		21	38	21	38	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31137767	31137767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:31137767G>A	ENST00000361310.3	-	6	1896	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R513*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R513*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R523*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R523*|ZNF438_ENST00000538351.2_Nonsense_Mutation_p.R474*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R87*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.R513*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R523*			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	523					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R523*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATGTGGTCTCGAAGGTGCTGT	0.498																																						uc010qdz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1567-1569)CGA>TGA		zinc finger protein 438 isoform a							229.0	229.0	229.0					10																	31137767		2203	4300	6503	SO:0001587	stop_gained	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137767G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1567C>T	10.37:g.31137767G>A	ENSP00000354663:p.Arg523*					ZNF438_uc001ivn.2_Nonsense_Mutation_p.R474*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.R513*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.R87*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.R523*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.R513*|ZNF438_uc010qea.1_Nonsense_Mutation_p.R523*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.R523*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R87*	p.R523*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	2002	-		Prostate(175;0.0587)	523			C2H2-type 1.		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Nonsense_Mutation	SNP	ENST00000361310.3	37	c.1567C>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	46	12.774971	0.99695	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	.	.	.	5.59	5.59	0.84812	.	0.232649	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5561	18.5764	0.91157	0.0:0.0:1.0:0.0	.	.	.	.	X	513;523;523;523;523;513;513;474;242;87	.	ENSP00000333571:R513X	R	-	1	2	ZNF438	31177773	0.998000	0.40836	0.452000	0.26994	0.995000	0.86356	7.250000	0.78287	2.632000	0.89209	0.655000	0.94253	CGA		PASS	0.498	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		63	81	63	81	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32103268	32103268	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:32103268T>C	ENST00000344936.2	-	14	1987	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.I580V|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.I533V|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.I555V|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.I533V	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	585					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I585V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCCTCTTCAATTCCTTCATCA	0.363																																						uc001ivz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1753-1755)ATT>GTT		Rho GTPase activating protein 12							278.0	273.0	275.0					10																	32103268		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32103268T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1753A>G	10.37:g.32103268T>C	ENSP00000345808:p.Ile585Val					ARHGAP12_uc001ivy.1_Missense_Mutation_p.I531V|ARHGAP12_uc009xls.2_Missense_Mutation_p.I536V|ARHGAP12_uc001iwb.1_Missense_Mutation_p.I578V|ARHGAP12_uc001iwc.1_Missense_Mutation_p.I553V|ARHGAP12_uc009xlq.1_Missense_Mutation_p.I506V|ARHGAP12_uc001iwd.1_Missense_Mutation_p.I553V|ARHGAP12_uc009xlr.1_Missense_Mutation_p.I583V	p.I585V	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			14	2023	-		Prostate(175;0.0199)	585					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1753A>G	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	1.296	-0.606294	0.03717	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.57	-5.52	0.02560	.	1.264480	0.05032	N	0.474804	T	0.14184	0.0343	N	0.16478	0.41	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001;0.003	T	0.26677	-1.0096	10	0.02654	T	1	.	1.9788	0.03422	0.2586:0.3784:0.2245:0.1384	.	538;555;555;580;585;533	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	V	533;555;585;580;533	ENSP00000310984:I533V;ENSP00000364399:I555V;ENSP00000345808:I585V;ENSP00000379448:I580V;ENSP00000364394:I533V	ENSP00000310984:I533V	I	-	1	0	ARHGAP12	32143274	0.042000	0.20092	0.003000	0.11579	0.036000	0.12997	-0.024000	0.12435	-0.648000	0.05437	-0.417000	0.06048	ATT		PASS	0.363	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			48	60	48	60	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	32856633	32856633	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:32856633C>T	ENST00000362006.5	+	16	1776	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	CCDC7_ENST00000277657.6_Silent_p.F411F|C10orf68_ENST00000375030.2_5'Flank|C10orf68_ENST00000375028.3_5'Flank|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	411								p.F411F(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTAACTATTTCCTAAATCAAG	0.313																																						uc001iwj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)TTC>TTT		coiled-coil domain containing 7							55.0	53.0	54.0					10																	32856633		2203	4300	6503	SO:0001819	synonymous_variant	221016							g.chr10:32856633C>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1233C>T	10.37:g.32856633C>T						CCDC7_uc001iwk.2_Silent_p.F411F|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'Flank	p.F411F	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN			16	1803	+		Breast(68;0.000207)|Prostate(175;0.0107)	411			Potential.		Q5VW55|Q8IVQ0|Q8NEQ0	Silent	SNP	ENST00000362006.5	37	c.1233C>T	CCDS7173.1																																																																																				PASS	0.313	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		5	26	5	26	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33559651	33559651	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:33559651C>T	ENST00000265371.4	-	4	907	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	NRP1_ENST00000395995.1_Missense_Mutation_p.E128K|NRP1_ENST00000374822.4_Missense_Mutation_p.E128K|NRP1_ENST00000374867.2_Missense_Mutation_p.E128K|NRP1_ENST00000374823.5_Missense_Mutation_p.E128K|NRP1_ENST00000374816.3_Missense_Mutation_p.E128K|NRP1_ENST00000432372.2_Missense_Mutation_p.E128K|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000374821.5_Missense_Mutation_p.E128K			O14786	NRP1_HUMAN	neuropilin 1	128	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E128K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCATGTGTTTCGTAGTCAGAG	0.403																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(382-384)GAA>AAA		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						98.0	99.0	99.0					10																	33559651		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33559651C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.382G>A	10.37:g.33559651C>T	ENSP00000265371:p.Glu128Lys					NRP1_uc001iwv.3_Missense_Mutation_p.E128K|NRP1_uc009xlz.2_Missense_Mutation_p.E128K|NRP1_uc001iww.3_Intron|NRP1_uc001iwy.3_Missense_Mutation_p.E128K|NRP1_uc001iwz.2_Missense_Mutation_p.E128K|NRP1_uc001ixa.2_Missense_Mutation_p.E128K|NRP1_uc001ixb.1_Missense_Mutation_p.E128K|NRP1_uc001ixc.1_Missense_Mutation_p.E128K	p.E128K	NM_003873	NP_003864	O14786	NRP1_HUMAN			3	905	-			128			CUB 1.|Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.382G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337958	0.81911	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.71	5.71	0.89125	CUB (5);	0.091610	0.64402	D	0.000001	T	0.42743	0.1216	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.918;0.926;0.979;0.999;0.999	T	0.09037	-1.0693	10	0.52906	T	0.07	-35.9904	19.8625	0.96789	0.0:1.0:0.0:0.0	.	128;128;128;128;128;128;128;128	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	K	128	ENSP00000265371:E128K;ENSP00000364001:E128K;ENSP00000379317:E128K;ENSP00000363955:E128K;ENSP00000363954:E128K;ENSP00000363956:E128K;ENSP00000363949:E128K	ENSP00000265371:E128K	E	-	1	0	NRP1	33599657	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.690000	0.68241	2.689000	0.91719	0.655000	0.94253	GAA		PASS	0.403	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			15	34	15	34	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34759113	34759113	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:34759113G>A	ENST00000374789.3	-	4	807	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PARD3_ENST00000340077.5_Missense_Mutation_p.S161F|PARD3_ENST00000374788.3_Missense_Mutation_p.S161F|PARD3_ENST00000545693.1_Missense_Mutation_p.S161F|PARD3_ENST00000374773.1_Missense_Mutation_p.S161F|PARD3_ENST00000350537.4_Missense_Mutation_p.S161F|PARD3_ENST00000374794.3_Missense_Mutation_p.S161F|PARD3_ENST00000374790.3_Missense_Mutation_p.S161F|PARD3_ENST00000374776.1_Missense_Mutation_p.S161F|PARD3_ENST00000545260.1_Missense_Mutation_p.S161F|PARD3_ENST00000346874.4_Missense_Mutation_p.S161F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	161					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S161F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTCAGAGGAAAAATTACT	0.473																																						uc010qej.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)TCC>TTC		partitioning-defective protein 3 homolog							117.0	118.0	118.0					10																	34759113		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34759113G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.482C>T	10.37:g.34759113G>A	ENSP00000363921:p.Ser161Phe					PARD3_uc010qek.1_Missense_Mutation_p.S161F|PARD3_uc010qel.1_Missense_Mutation_p.S161F|PARD3_uc010qem.1_Missense_Mutation_p.S161F|PARD3_uc010qen.1_Missense_Mutation_p.S161F|PARD3_uc010qeo.1_Missense_Mutation_p.S161F|PARD3_uc010qep.1_Missense_Mutation_p.S161F|PARD3_uc010qeq.1_Missense_Mutation_p.S161F|PARD3_uc001ixp.1_Missense_Mutation_p.S26F|PARD3_uc001ixq.1_Missense_Mutation_p.S161F|PARD3_uc001ixr.1_Missense_Mutation_p.S161F|PARD3_uc001ixt.1_Missense_Mutation_p.S26F|PARD3_uc001ixu.1_Missense_Mutation_p.S161F	p.S161F	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			4	482	-		Breast(68;0.0707)	161					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.482C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628831	0.67015	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;2.48;0.98;0.98;0.98;2.47;0.98;2.47;0.98;0.98;0.98	5.81	5.81	0.92471	.	0.300521	0.37761	N	0.001960	T	0.48519	0.1504	N	0.14661	0.345	0.80722	D	1	P;D;P;P;P;P;P;P;B;P;P;P;P	0.53151	0.898;0.958;0.913;0.898;0.913;0.942;0.898;0.748;0.053;0.836;0.942;0.905;0.942	P;P;P;P;P;P;P;B;B;B;P;P;P	0.61397	0.504;0.804;0.857;0.504;0.888;0.6;0.504;0.308;0.022;0.308;0.6;0.6;0.6	T	0.54503	-0.8284	10	0.87932	D	0	.	19.679	0.95950	0.0:0.0:1.0:0.0	.	161;161;161;161;161;161;161;161;161;161;161;161;161	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.	F	161	ENSP00000443147:S161F;ENSP00000440857:S161F;ENSP00000363921:S161F;ENSP00000363920:S161F;ENSP00000340591:S161F;ENSP00000363926:S161F;ENSP00000311986:S161F;ENSP00000363922:S161F;ENSP00000363908:S161F;ENSP00000341844:S161F;ENSP00000363905:S161F	ENSP00000341844:S161F	S	-	2	0	PARD3	34799119	1.000000	0.71417	0.989000	0.46669	0.716000	0.41182	6.462000	0.73526	2.742000	0.94016	0.655000	0.94253	TCC		PASS	0.473	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		36	77	36	77	---	---	---	---
FZD8	8325	broad.mit.edu	37	10	35930016	35930016	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:35930016G>A	ENST00000374694.1	-	1	346	c.342C>T	c.(340-342)gcC>gcT	p.A114A	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	114	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A114A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGCCGGCCTTGGCGCGCTCGC	0.682																																						uc001iyz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(340-342)GCC>GCT		frizzled 8 precursor							23.0	26.0	25.0					10																	35930016		2198	4295	6493	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930016G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.342C>T	10.37:g.35930016G>A							p.A114A	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	347	-			114			FZ.|Extracellular (Potential).			Silent	SNP	ENST00000374694.1	37	c.342C>T	CCDS7192.1																																																																																				PASS	0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	3	3	3	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37418828	37418828	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:37418828C>T	ENST00000602533.1	+	2	160	c.61C>T	c.(61-63)Cta>Tta	p.L21L	ANKRD30A_ENST00000361713.1_Silent_p.L21L|ANKRD30A_ENST00000374660.1_Silent_p.L21L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	77					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L21L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGACTGCTCTACACTGGGC	0.453																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(61-63)CTA>TTA		ankyrin repeat domain 30A							46.0	43.0	44.0					10																	37418828		1910	4139	6049	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37418828C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.61C>T	10.37:g.37418828C>T							p.L21L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			2	160	+			77			ANK 1.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.61C>T																																																																																					PASS	0.453	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	25	7	25	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37436363	37436363	+	Missense_Mutation	SNP	G	G	A	rs564319804	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:37436363G>A	ENST00000602533.1	+	9	1452	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M451I|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.M451I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	507					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M451I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAAGTAATGGAGATAAATA	0.289													.|||	2	0.000399361	0.0015	0.0	5008	,	,		15859	0.0		0.0	False		,,,				2504	0.0					uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1351-1353)ATG>ATA		ankyrin repeat domain 30A							43.0	42.0	42.0					10																	37436363		1782	4036	5818	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37436363G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1353G>A	10.37:g.37436363G>A	ENSP00000473551:p.Met451Ile						p.M451I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			9	1452	+			507					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1353G>A		.	.	.	.	.	.	.	.	.	.	.	0.734	-0.778840	0.02929	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05513	3.43;3.43	1.68	-1.09	0.09904	.	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.19391	0.025	T	0.44620	-0.9316	9	0.30854	T	0.27	.	2.3111	0.04186	0.4818:0.3093:0.2088:0.0	.	507	Q9BXX3	AN30A_HUMAN	I	451	ENSP00000354432:M451I;ENSP00000363792:M451I	ENSP00000354432:M451I	M	+	3	0	ANKRD30A	37476369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	-0.269000	0.09298	-0.782000	0.03352	ATG		PASS	0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		8	14	8	14	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088170	43088170	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:43088170T>A	ENST00000359467.3	-	5	2342	c.2228A>T	c.(2227-2229)cAt>cTt	p.H743L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	743					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.H743L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCCCCTGTATGTGATCTCTG	0.393																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2227-2229)CAT>CTT		zinc finger protein 33B							154.0	149.0	151.0					10																	43088170		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088170T>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2228A>T	10.37:g.43088170T>A	ENSP00000352444:p.His743Leu					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H631L|ZNF33B_uc001jad.2_Intron	p.H743L	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	2343	-			743			C2H2-type 15.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2228A>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325252	0.60743	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.67345	-0.26	2.64	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003078	D	0.83211	0.5205	H	0.96398	3.815	0.36062	D	0.841493	D	0.69078	0.997	P	0.60682	0.878	D	0.88518	0.3094	10	0.87932	D	0	.	9.1471	0.36939	0.0:0.0:0.0:1.0	.	743	Q06732	ZN33B_HUMAN	L	743;709	ENSP00000352444:H743L	ENSP00000352444:H743L	H	-	2	0	ZNF33B	42408176	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.481000	0.73608	1.470000	0.48102	0.336000	0.21669	CAT		PASS	0.393	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		43	55	43	55	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43882454	43882454	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:43882454C>T	ENST00000544000.1	-	4	1286	c.879G>A	c.(877-879)atG>atA	p.M293I	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M293I|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M293I|HNRNPF_ENST00000443950.2_Missense_Mutation_p.M293I|HNRNPF_ENST00000357065.4_Missense_Mutation_p.M293I	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	293	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.M293I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GCAGGCCCCTCATGTGGACAC	0.532																																						uc009xmh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(877-879)ATG>ATA		heterogeneous nuclear ribonucleoprotein F							53.0	45.0	47.0					10																	43882454		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882454C>T		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.879G>A	10.37:g.43882454C>T	ENSP00000438061:p.Met293Ile					HNRNPF_uc001jar.2_Missense_Mutation_p.M293I|HNRNPF_uc001jas.2_Missense_Mutation_p.M293I|HNRNPF_uc001jat.2_Missense_Mutation_p.M293I|HNRNPF_uc001jav.2_Missense_Mutation_p.M293I|HNRNPF_uc001jau.2_Missense_Mutation_p.M293I|uc010qfa.1_Missense_Mutation_p.H46Y	p.M293I	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	1366	-			293			RRM 3.		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.879G>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907782	0.52333	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.38	4.38	0.52667	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	L	0.46614	1.455	0.80722	D	1	P	0.50066	0.931	D	0.64595	0.927	T	0.11690	-1.0577	10	0.49607	T	0.09	-40.5875	15.2569	0.73593	0.0:1.0:0.0:0.0	.	293	P52597	HNRPF_HUMAN	I	293;293;293;293;293;216	ENSP00000438061:M293I;ENSP00000400433:M293I;ENSP00000348345:M293I;ENSP00000349573:M293I;ENSP00000338477:M293I	ENSP00000338477:M293I	M	-	3	0	HNRNPF	43202460	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	7.000000	0.76290	2.726000	0.93360	0.655000	0.94253	ATG		PASS	0.532	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			7	18	7	18	---	---	---	---
MARCH8	220972	broad.mit.edu	37	10	45959739	45959739	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:45959739C>T	ENST00000319836.3	-	4	939	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	MARCH8_ENST00000453424.2_Missense_Mutation_p.V64M|MARCH8_ENST00000395771.3_Missense_Mutation_p.V64M|MARCH8_ENST00000476962.1_5'Flank|MARCH8_ENST00000395769.2_Missense_Mutation_p.V64M	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	64					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V64M(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AAGGAGGACACCGGAGCCGGA	0.557																																					NSCLC(102;658 1594 2173 16344 34808)	uc001jci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GTG>ATG		cellular modulator of immune recognition isoform							155.0	129.0	138.0					10																	45959739		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45959739C>T	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.190G>A	10.37:g.45959739C>T	ENSP00000317087:p.Val64Met					MARCH8_uc001jch.2_Missense_Mutation_p.V64M|MARCH8_uc001jcj.1_Missense_Mutation_p.V64M|MARCH8_uc001jck.1_Missense_Mutation_p.V64M|MARCH8_uc001jcg.1_5'Flank	p.V64M	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN			4	429	-			64					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.190G>A	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	C	6.762	0.509429	0.12883	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.13420	2.59;2.59;2.59	4.93	4.93	0.64822	.	.	.	.	.	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	P	0.35208	0.49	B	0.32624	0.149	T	0.15925	-1.0420	9	0.45353	T	0.12	.	9.4218	0.38557	0.0:0.9054:0.0:0.0946	.	64	Q5T0T0	MARH8_HUMAN	M	64	ENSP00000379118:V64M;ENSP00000317087:V64M;ENSP00000379116:V64M	ENSP00000317087:V64M	V	-	1	0	MARCH8	45279745	0.804000	0.28969	0.244000	0.24202	0.171000	0.22731	2.843000	0.48238	2.726000	0.93360	0.655000	0.94253	GTG		PASS	0.557	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		18	50	18	50	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47086879	47086879	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:47086879A>T	ENST00000395716.1	+	2	181	c.96A>T	c.(94-96)gaA>gaT	p.E32D	NPY4R_ENST00000374312.1_Missense_Mutation_p.E32D			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	32					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.E32D(1)									ACTTCTCTGAACATTGCCAGG	0.527																																						uc001jee.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(94-96)GAA>GAT		pancreatic polypeptide receptor 1							177.0	160.0	166.0					10																	47086879		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47086879A>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.96A>T	10.37:g.47086879A>T	ENSP00000379066:p.Glu32Asp					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.E32D	p.E32D	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	515	+			32			Extracellular (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.96A>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.081854	0.01888	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37411	1.2;1.2	4.78	1.87	0.25490	.	0.437819	0.26297	N	0.025183	T	0.05731	0.0150	N	0.00104	-2.125	0.20196	N	0.999927	B	0.02656	0.0	B	0.04013	0.001	T	0.41610	-0.9499	10	0.02654	T	1	.	5.9137	0.19043	0.1574:0.6691:0.0:0.1735	.	32	P50391	NPY4R_HUMAN	D	32	ENSP00000363431:E32D;ENSP00000379066:E32D	ENSP00000363431:E32D	E	+	3	2	PPYR1	46506885	0.933000	0.31639	1.000000	0.80357	0.436000	0.31835	-0.002000	0.12924	0.686000	0.31488	-0.132000	0.14878	GAA		PASS	0.527	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			10	111	10	111	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47087301	47087301	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:47087301C>T	ENST00000395716.1	+	2	603	c.518C>T	c.(517-519)cCc>cTc	p.P173L	NPY4R_ENST00000374312.1_Missense_Mutation_p.P173L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	173					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.P173L(1)									CTCTCCCTGCCCTTCCTGGCC	0.567																																						uc001jee.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(517-519)CCC>CTC		pancreatic polypeptide receptor 1							197.0	156.0	170.0					10																	47087301		2203	4300	6503	SO:0001583	missense	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087301C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.518C>T	10.37:g.47087301C>T	ENSP00000379066:p.Pro173Leu					ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.P173L	p.P173L	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	937	+			173			Helical; Name=4; (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.518C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463615	0.84425	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.44482	0.92;0.92	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79222	-0.1892	10	0.87932	D	0	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	173	P50391	NPY4R_HUMAN	L	173	ENSP00000363431:P173L;ENSP00000379066:P173L	ENSP00000363431:P173L	P	+	2	0	PPYR1	46507307	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.493000	0.81493	2.464000	0.83262	0.609000	0.83330	CCC		PASS	0.567	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			14	111	14	111	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47087788	47087788	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:47087788C>T	ENST00000395716.1	+	2	1090	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	NPY4R_ENST00000374312.1_Silent_p.A335A			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	335					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.A335A(1)									AGATCAAGGCCCTGGTGCTGA	0.552																																						uc001jee.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1003-1005)GCC>GCT		pancreatic polypeptide receptor 1							155.0	153.0	154.0					10																	47087788		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087788C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1005C>T	10.37:g.47087788C>T						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.A335A	p.A335A	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	1424	+			335			Cytoplasmic (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.1005C>T	CCDS31193.1																																																																																				PASS	0.552	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			14	92	14	92	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48371416	48371416	+	Missense_Mutation	SNP	G	G	A	rs77048726		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:48371416G>A	ENST00000395702.2	+	2	1111	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	ZNF488_ENST00000586537.1_Missense_Mutation_p.R188Q|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	295					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R295Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TTTCACATGCGATCCCACCAC	0.602																																						uc001jex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(883-885)CGA>CAA		zinc finger protein 488							111.0	102.0	105.0					10																	48371416		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371416G>A	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.884G>A	10.37:g.48371416G>A	ENSP00000379054:p.Arg295Gln					ZNF488_uc001jey.2_Missense_Mutation_p.R188Q	p.R295Q	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	1046	+			295			C2H2-type 1.		Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.884G>A	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.939383	0.97128	.	.	ENSG00000165388	ENST00000395702	T	0.33216	1.42	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.066944	0.64402	D	0.000008	T	0.59376	0.2189	M	0.76838	2.35	0.41954	D	0.990671	D	0.89917	1.0	D	0.97110	1.0	T	0.63492	-0.6625	10	0.87932	D	0	.	18.4968	0.90867	0.0:0.0:1.0:0.0	.	295	Q96MN9	ZN488_HUMAN	Q	295	ENSP00000379054:R295Q	ENSP00000379054:R295Q	R	+	2	0	ZNF488	47991422	1.000000	0.71417	0.982000	0.44146	0.984000	0.73092	9.384000	0.97219	2.682000	0.91365	0.655000	0.94253	CGA		PASS	0.602	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		13	58	13	58	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:48390628C>T	ENST00000224600.4	-	1	363	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	84	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.D84N(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCGAGGATCGTTCAGGGAG	0.617																																						uc001jez.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(250-252)GAT>AAT		retinol-binding protein 3 precursor	Vitamin A(DB00162)						57.0	61.0	60.0					10																	48390628		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390628C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.250G>A	10.37:g.48390628C>T	ENSP00000224600:p.Asp84Asn						p.D84N	NM_002900	NP_002891	P10745	RET3_HUMAN			1	364	-			84			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.250G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861180	0.91433	.	.	ENSG00000107618	ENST00000224600	T	0.69435	-0.4	5.71	5.71	0.89125	Interphotoreceptor retinol-binding, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91861	0.5499	10	0.87932	D	0	-53.1888	18.848	0.92215	0.0:1.0:0.0:0.0	.	84	P10745	RET3_HUMAN	N	84	ENSP00000224600:D84N	ENSP00000224600:D84N	D	-	1	0	RBP3	48010634	1.000000	0.71417	0.973000	0.42090	0.642000	0.38348	5.714000	0.68422	2.710000	0.92621	0.655000	0.94253	GAT		PASS	0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		15	31	15	31	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48414135	48414135	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:48414135G>A	ENST00000249598.1	-	2	892	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	245					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P245S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GAACCTGGGGGGACACTGATG	0.572																																						uc001jfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(733-735)CCC>TCC		growth differentiation factor 2 precursor							77.0	73.0	75.0					10																	48414135		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414135G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.733C>T	10.37:g.48414135G>A	ENSP00000249598:p.Pro245Ser						p.P245S	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	896	-			245					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.733C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.680537	0.00745	.	.	ENSG00000128802	ENST00000249598	T	0.66460	-0.21	5.84	5.84	0.93424	Transforming growth factor-beta, N-terminal (1);	0.330233	0.33712	N	0.004622	T	0.52338	0.1728	L	0.31526	0.94	0.27530	N	0.951114	P	0.37061	0.58	B	0.38655	0.278	T	0.48833	-0.9000	10	0.02654	T	1	.	14.5778	0.68262	0.0:0.0:0.8448:0.1552	.	245	Q9UK05	GDF2_HUMAN	S	245	ENSP00000249598:P245S	ENSP00000249598:P245S	P	-	1	0	GDF2	48034141	0.766000	0.28496	0.672000	0.29872	0.151000	0.21798	1.897000	0.39799	2.767000	0.95098	0.591000	0.81541	CCC		PASS	0.572	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		8	28	8	28	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49392620	49392620	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:49392620G>A	ENST00000374201.3	-	20	2875	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	FRMPD2_ENST00000305531.3_Missense_Mutation_p.S833F|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S826F	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	858	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.S858F(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTTTGACTGAGAAATAATTAA	0.428																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2572-2574)TCT>TTT		FERM and PDZ domain containing 2 isoform 3							90.0	88.0	89.0					10																	49392620		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49392620G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2573C>T	10.37:g.49392620G>A	ENSP00000363317:p.Ser858Phe					FRMPD2_uc001jgh.2_Missense_Mutation_p.S826F|FRMPD2_uc001jgj.2_Missense_Mutation_p.S836F	p.S858F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	20	2680	-			858			PDZ 1.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.2573C>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177849	0.78564	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39056	1.1;1.1;1.1	5.17	5.17	0.71159	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.70107	0.3186	M	0.89095	3.005	0.47862	D	0.999534	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.76572	-0.2910	9	0.72032	D	0.01	.	15.8308	0.78749	0.0:0.0:1.0:0.0	.	833;858;826	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	F	858;833;826	ENSP00000363317:S858F;ENSP00000307079:S833F;ENSP00000384339:S826F	ENSP00000307079:S833F	S	-	2	0	FRMPD2	49062626	1.000000	0.71417	0.994000	0.49952	0.948000	0.59901	6.138000	0.71717	2.416000	0.81992	0.655000	0.94253	TCT		PASS	0.428	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		12	24	12	24	---	---	---	---
VSTM4	196740	broad.mit.edu	37	10	50315891	50315891	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:50315891C>T	ENST00000332853.4	-	2	228	c.205G>A	c.(205-207)Gac>Aac	p.D69N	VSTM4_ENST00000298454.3_Missense_Mutation_p.D69N	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	69	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D69N(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TCCTGGGAGTCGAAGGAGTGT	0.607																																						uc001jhf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(205-207)GAC>AAC		hypothetical protein LOC196740 isoform 1							61.0	61.0	61.0					10																	50315891		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315891C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.205G>A	10.37:g.50315891C>T	ENSP00000331062:p.Asp69Asn					C10orf72_uc001jhh.2_Missense_Mutation_p.D69N	p.D69N	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			2	234	-			69			Ig-like.|Extracellular (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.205G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401125	0.01165	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.63580	-0.05;-0.05	5.21	-4.47	0.03525	.	1.007190	0.07953	N	0.981209	T	0.37404	0.1002	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23226	-1.0194	10	0.12103	T	0.63	-4.6037	4.6972	0.12809	0.0829:0.3938:0.1056:0.4178	.	69;69	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	N	69	ENSP00000331062:D69N;ENSP00000298454:D69N	ENSP00000298454:D69N	D	-	1	0	VSTM4	49985897	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.263000	0.08670	-0.642000	0.05480	-0.940000	0.02684	GAC		PASS	0.607	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		13	18	13	18	---	---	---	---
OGDHL	55753	broad.mit.edu	37	10	50954808	50954808	+	Silent	SNP	G	G	A	rs371069433		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:50954808G>A	ENST00000374103.4	-	10	1369	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	OGDHL_ENST00000432695.1_Silent_p.V219V|OGDHL_ENST00000419399.1_Silent_p.V371V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	428					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.V428V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGTTGACGACGACGTGCA	0.597																																						uc001jie.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1282-1284)GTC>GTT		oxoglutarate dehydrogenase-like isoform a		A	,,	1,4405	2.1+/-5.4	0,1,2202	149.0	99.0	116.0		1113,657,1284	-8.7	0.1	10		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	371/954,219/802,428/1011	50954808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50954808G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1284C>T	10.37:g.50954808G>A						OGDHL_uc009xog.2_Silent_p.V455V|OGDHL_uc010qgt.1_Silent_p.V371V|OGDHL_uc010qgu.1_Silent_p.V219V|OGDHL_uc009xoh.2_Silent_p.V219V	p.V428V	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			10	1426	-			428					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1284C>T	CCDS7234.1																																																																																				PASS	0.597	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		11	21	11	21	---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54528129	54528129	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:54528129C>T	ENST00000373968.3	-	4	579	c.515G>A	c.(514-516)gGa>gAa	p.G172E		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	172	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.G172E(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CTGAATGGCTCCATTCTCTGC	0.488																																						uc001jjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)GGA>GAA		soluble mannose-binding lectin precursor							176.0	174.0	175.0					10																	54528129		2202	4300	6502	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54528129C>T	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.515G>A	10.37:g.54528129C>T	ENSP00000363079:p.Gly172Glu						p.G172E	NM_000242	NP_000233	P11226	MBL2_HUMAN			4	580	-			172			C-type lectin.		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.515G>A	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	C	5.290	0.238933	0.10023	.	.	ENSG00000165471	ENST00000373968	T	0.16073	2.37	4.73	-9.46	0.00597	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	3.223420	0.00775	N	0.001229	T	0.04543	0.0124	N	0.01624	-0.795	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12451	-1.0547	10	0.07325	T	0.83	6.927	6.2171	0.20661	0.0667:0.4039:0.332:0.1973	.	172	P11226	MBL2_HUMAN	E	172	ENSP00000363079:G172E	ENSP00000363079:G172E	G	-	2	0	MBL2	54198135	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.549000	0.00434	-5.087000	0.00022	-1.181000	0.01715	GGA		PASS	0.488	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		37	137	37	137	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55569161	55569161	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:55569161A>G	ENST00000395445.1	-	36	5043	c.4649T>C	c.(4648-4650)tTt>tCt	p.F1550S	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.F746S|PCDH15_ENST00000395440.1_Missense_Mutation_p.F484S|PCDH15_ENST00000395442.1_Missense_Mutation_p.F415S|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)			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)				AACTTTCTTAAAAATCATGGG	0.413										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4663-4665)TTT>TCT		protocadherin 15 isoform CD2-1 precursor							160.0	146.0	150.0					10																	55569161		1568	3582	5150	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.chr10:55569161A>G	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	ENST00000395445.1:c.4649T>C	10.37:g.55569161A>G	ENSP00000378832:p.Phe1550Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.F1548S|PCDH15_uc010qhu.1_3'UTR	p.F1555S	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5059	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4664T>C		.	.	.	.	.	.	.	.	.	.	A	14.81	2.646183	0.47258	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.22;-0.33;-0.01;-0.14	5.88	3.45	0.39498	.	.	.	.	.	T	0.44603	0.1301	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.37596	-0.9699	9	0.54805	T	0.06	.	4.4683	0.11700	0.6848:0.1259:0.0683:0.121	.	1548;1550	C6ZEF5;A2A3E2	.;.	S	1550;746;415;484	ENSP00000378832:F1550S;ENSP00000378833:F746S;ENSP00000378829:F415S;ENSP00000378827:F484S	ENSP00000378827:F484S	F	-	2	0	PCDH15	55239167	0.275000	0.24201	0.978000	0.43139	0.735000	0.41995	1.138000	0.31491	1.042000	0.40150	0.533000	0.62120	TTT		PASS	0.413	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		28	66	28	66	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	56423959	56423959	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:56423959C>T	ENST00000320301.6	-	2	458	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PCDH15_ENST00000373965.2_Missense_Mutation_p.E22K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E22K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E22K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E22K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E22K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E22K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E22K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E22K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E22K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E22K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E22K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E22K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E22K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E22K|PCDH15_ENST00000409834.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	22					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.E22K(5)		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)				AAGCAGATTTCAAAGAGAGAG	0.393										HNSCC(58;0.16)																												uc001jju.1																			5	Substitution - Missense(5)		lung(5)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(64-66)GAA>AAA		protocadherin 15 isoform CD1-4 precursor							78.0	71.0	73.0					10																	56423959		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.chr10:56423959C>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.64G>A	10.37:g.56423959C>T	ENSP00000322604:p.Glu22Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.E22K|PCDH15_uc010qhr.1_Missense_Mutation_p.E22K|PCDH15_uc010qhs.1_Missense_Mutation_p.E22K|PCDH15_uc010qht.1_Missense_Mutation_p.E22K|PCDH15_uc010qhu.1_Missense_Mutation_p.E22K|PCDH15_uc001jjv.1_Missense_Mutation_p.E22K|PCDH15_uc010qhv.1_Missense_Mutation_p.E22K|PCDH15_uc010qhw.1_Missense_Mutation_p.E22K|PCDH15_uc010qhx.1_Missense_Mutation_p.E22K|PCDH15_uc010qhy.1_Missense_Mutation_p.E22K|PCDH15_uc010qhz.1_Missense_Mutation_p.E22K|PCDH15_uc010qia.1_Missense_Mutation_p.E22K|PCDH15_uc010qib.1_Missense_Mutation_p.E22K|PCDH15_uc001jjw.2_Missense_Mutation_p.E22K	p.E22K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			2	459	-		Melanoma(3;0.117)|Lung SC(717;0.238)	22					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.64G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	3.460	-0.110131	0.06924	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57273	0.57;0.56;0.53;0.51;0.5;0.72;0.62;0.54;0.51;0.51;0.41;0.52;0.52;0.54;0.64;0.96	5.8	-11.6	0.00059	.	.	.	.	.	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21753	0.039;0.018;0.018;0.018;0.001;0.018;0.039;0.013;0.06;0.06;0.013;0.001;0.004;0.0;0.018	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.03;0.039;0.039;0.039;0.003;0.039;0.03;0.008;0.044;0.044;0.011;0.004;0.018;0.0;0.039	T	0.03981	-1.0987	9	0.06625	T	0.88	.	5.7098	0.17929	0.1728:0.0959:0.1385:0.5928	.	22;22;22;22;22;22;22;22;22;22;22;22;22;22;22	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	22	ENSP00000363076:E22K;ENSP00000410304:E22K;ENSP00000378826:E22K;ENSP00000378832:E22K;ENSP00000378833:E22K;ENSP00000378829:E22K;ENSP00000378827:E22K;ENSP00000378820:E22K;ENSP00000354950:E22K;ENSP00000378821:E22K;ENSP00000363068:E22K;ENSP00000322604:E22K;ENSP00000378818:E22K;ENSP00000412628:E22K;ENSP00000363066:E22K;ENSP00000394465:E22K	ENSP00000322604:E22K	E	-	1	0	PCDH15	56093965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.110000	0.00293	-2.746000	0.00377	-1.174000	0.01732	GAA		PASS	0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	25	12	25	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61834736	61834736	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:61834736A>C	ENST00000280772.2	-	37	6094	c.5903T>G	c.(5902-5904)gTa>gGa	p.V1968G	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1968					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V1968G(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTATTATCTACACATACATC	0.373																																						uc001jky.2																			1	Substitution - Missense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5902-5904)GTA>GGA		ankyrin 3 isoform 1							68.0	67.0	68.0					10																	61834736		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834736A>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5903T>G	10.37:g.61834736A>C	ENSP00000280772:p.Val1968Gly					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.V1968G	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	6095	-			1968					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5903T>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692387	0.30052	.	.	ENSG00000151150	ENST00000280772	T	0.63417	-0.04	5.93	5.93	0.95920	.	0.000000	0.38058	N	0.001837	T	0.55417	0.1919	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.51988	-0.8635	10	0.62326	D	0.03	.	16.3797	0.83452	1.0:0.0:0.0:0.0	.	1968	Q12955	ANK3_HUMAN	G	1968	ENSP00000280772:V1968G	ENSP00000280772:V1968G	V	-	2	0	ANK3	61504742	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	4.281000	0.58965	2.271000	0.75665	0.533000	0.62120	GTA		PASS	0.373	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	28	10	28	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573279	64573280	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:64573279_64573280CC>TT	ENST00000242480.3	-	2	1443_1444	c.1118_1119GG>AA	c.(1117-1119)cGG>cAA	p.R373Q	EGR2_ENST00000411732.1_Missense_Mutation_p.R323Q|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.R373Q	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	373					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R373Q(2)|p.R373R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCATGCAGATCCGACACTGGAA	0.614																																						uc010qim.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(1117-1119)CGG>CGA|c.(1117-1119)CGG>CAG		early growth response 2 protein isoform a																																				SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573279C>T|g.chr10:64573280C>T	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1118_1119delinsTT	10.37:g.64573279_64573280delinsTT	ENSP00000242480:p.Arg373Gln					EGR2_uc010qin.1_Silent_p.R323R|EGR2_uc001jmi.2_Silent_p.R373R|EGR2_uc010qio.1_Silent_p.R386R|EGR2_uc009xph.2_Silent_p.R373R|EGR2_uc010qin.1_Missense_Mutation_p.R323Q|EGR2_uc001jmi.2_Missense_Mutation_p.R373Q|EGR2_uc010qio.1_Missense_Mutation_p.R386Q|EGR2_uc009xph.2_Missense_Mutation_p.R373Q	p.R373R|p.R373Q	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	1273|1272	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		373			C2H2-type 2.		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent|Missense_Mutation	SNP	ENST00000242480.3	37	c.1119G>A|c.1118G>A	CCDS7267.1																																																																																				PASS	0.614	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		17	72	17	72	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573955	64573955	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:64573955G>A	ENST00000242480.3	-	2	768	c.443C>T	c.(442-444)cCc>cTc	p.P148L	EGR2_ENST00000411732.1_Missense_Mutation_p.P98L|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.P148L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	148					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P148L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CACACCCAGGGGTCCTGTGGC	0.617																																						uc010qim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(442-444)CCC>CTC		early growth response 2 protein isoform a							119.0	111.0	114.0					10																	64573955		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573955G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.443C>T	10.37:g.64573955G>A	ENSP00000242480:p.Pro148Leu					EGR2_uc010qin.1_Missense_Mutation_p.P98L|EGR2_uc001jmi.2_Missense_Mutation_p.P148L|EGR2_uc010qio.1_Missense_Mutation_p.P161L|EGR2_uc009xph.2_Missense_Mutation_p.P148L	p.P148L	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	597	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		148					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.443C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774668	0.70107	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.12774	2.65;2.65;2.67	5.01	5.01	0.66863	.	0.171790	0.49916	D	0.000128	T	0.06781	0.0173	N	0.02011	-0.69	0.52099	D	0.999944	B;B	0.16603	0.018;0.011	B;B	0.17722	0.019;0.017	T	0.36866	-0.9730	10	0.44086	T	0.13	-23.7408	16.2786	0.82657	0.0:0.0:1.0:0.0	.	98;148	P11161-2;P11161	.;EGR2_HUMAN	L	148;148;98;161	ENSP00000242480:P148L;ENSP00000402040:P148L;ENSP00000387634:P98L	ENSP00000242480:P148L	P	-	2	0	EGR2	64243961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.800000	0.62524	2.587000	0.87381	0.557000	0.71058	CCC		PASS	0.617	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		7	28	7	28	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979601	68979601	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:68979601C>T	ENST00000433211.2	-	6	781	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E203K|CTNNA3_ENST00000545309.1_Missense_Mutation_p.E203K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.E203K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTGCAATTTCATCTCTCTGA	0.398																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(607-609)GAA>AAA		catenin, alpha 3							65.0	69.0	68.0					10																	68979601		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979601C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.607G>A	10.37:g.68979601C>T	ENSP00000389714:p.Glu203Lys					CTNNA3_uc001jmw.2_Missense_Mutation_p.E203K|CTNNA3_uc001jmx.3_Missense_Mutation_p.E203K|CTNNA3_uc009xpo.1_Missense_Mutation_p.E63K|CTNNA3_uc001jna.2_Missense_Mutation_p.E215K	p.E203K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			6	730	-			203						Missense_Mutation	SNP	ENST00000433211.2	37	c.607G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347194	0.61183	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.42131	0.98;0.98;0.98	5.57	5.57	0.84162	.	0.000000	0.53938	D	0.000056	T	0.47673	0.1458	L	0.47190	1.495	0.37588	D	0.920073	P;P;P;P	0.51449	0.945;0.905;0.553;0.789	P;P;P;B	0.50860	0.652;0.637;0.476;0.347	T	0.54846	-0.8232	10	0.66056	D	0.02	-14.2972	13.9937	0.64382	0.0:0.848:0.152:0.0	.	203;203;203;203	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	203	ENSP00000389714:E203K;ENSP00000362849:E203K;ENSP00000441444:E203K	ENSP00000362849:E203K	E	-	1	0	CTNNA3	68649607	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.301000	0.51842	2.617000	0.88574	0.591000	0.81541	GAA		PASS	0.398	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		11	35	11	35	---	---	---	---
DNAJC12	56521	broad.mit.edu	37	10	69583138	69583138	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:69583138G>A	ENST00000225171.2	-	2	243	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DNAJC12_ENST00000339758.7_Silent_p.L31L|RN7SL394P_ENST00000480997.2_RNA|DNAJC12_ENST00000483798.2_Silent_p.L31L	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	31	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.							p.L31L(2)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AATTCTGCCAGGATTTGTTCA	0.423																																						uc001jnb.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(91-93)CTG>TTG		J domain containing protein 1 isoform a							103.0	105.0	104.0					10																	69583138		2203	4300	6503	SO:0001819	synonymous_variant	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69583138G>A	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.91C>T	10.37:g.69583138G>A						DNAJC12_uc001jnc.2_Silent_p.L31L	p.L31L	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN			2	259	-			31			J.		Q5JVQ1|Q9UKB2	Silent	SNP	ENST00000225171.2	37	c.91C>T	CCDS7271.1																																																																																				PASS	0.423	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		15	33	15	33	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70507168	70507168	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:70507168C>T	ENST00000265872.6	+	8	790	c.671C>T	c.(670-672)cCt>cTt	p.P224L	CCAR1_ENST00000543719.1_Missense_Mutation_p.P209L|CCAR1_ENST00000535016.1_Missense_Mutation_p.P209L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	224					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.P224L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAGACTCCTCCTGCTGTACTT	0.418																																						uc001joo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(670-672)CCT>CTT		cell-cycle and apoptosis regulatory protein 1							136.0	129.0	132.0					10																	70507168		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70507168C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.671C>T	10.37:g.70507168C>T	ENSP00000265872:p.Pro224Leu					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.P29L|CCAR1_uc009xpx.1_Missense_Mutation_p.P198L|CCAR1_uc001jon.1_Missense_Mutation_p.P170L|CCAR1_uc010qiz.1_Missense_Mutation_p.P209L|CCAR1_uc010qja.1_Missense_Mutation_p.P209L|CCAR1_uc010qjb.1_RNA	p.P224L	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			8	790	+			224					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.671C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168404	0.57584	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	T;T;T;T;T;T	0.26957	1.7;1.86;1.86;1.87;1.89;1.78	5.42	5.42	0.78866	.	0.049511	0.85682	D	0.000000	T	0.27967	0.0689	L	0.44542	1.39	0.58432	D	0.999998	B;B;B	0.17852	0.008;0.024;0.0	B;B;B	0.15052	0.006;0.012;0.002	T	0.04413	-1.0953	10	0.72032	D	0.01	-6.8824	19.5679	0.95403	0.0:1.0:0.0:0.0	.	209;224;198	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	224;209;209;209;198;29;29	ENSP00000265872:P224L;ENSP00000441820:P209L;ENSP00000445254:P209L;ENSP00000439252:P209L;ENSP00000438610:P198L;ENSP00000439642:P29L	ENSP00000265872:P224L	P	+	2	0	CCAR1	70177174	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.479000	0.66813	2.702000	0.92279	0.655000	0.94253	CCT		PASS	0.418	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		28	55	28	55	---	---	---	---
VPS26A	9559	broad.mit.edu	37	10	70917876	70917876	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:70917876C>T	ENST00000373382.1	+	6	1113	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	VPS26A_ENST00000395098.1_Missense_Mutation_p.L154F|VPS26A_ENST00000490696.1_Intron|VPS26A_ENST00000263559.6_Missense_Mutation_p.L154F|VPS26A_ENST00000546041.1_Missense_Mutation_p.L137F|VPS26A_ENST00000489794.1_Missense_Mutation_p.L129F|VPS26A_ENST00000541711.1_Missense_Mutation_p.L43F			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	154					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)	p.L154F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGTTCACCAGCTTGCCACCTA	0.328																																					Colon(90;545 1358 4729 6702 16773)	uc001jpb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)CTT>TTT		vacuolar protein sorting 26 A isoform 1							96.0	93.0	94.0					10																	70917876		2203	4300	6503	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70917876C>T	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.460C>T	10.37:g.70917876C>T	ENSP00000362480:p.Leu154Phe					VPS26A_uc001jpc.2_Missense_Mutation_p.L154F|VPS26A_uc009xqa.2_Missense_Mutation_p.L147F|VPS26A_uc001jpd.2_Missense_Mutation_p.L43F	p.L154F	NM_004896	NP_004887	O75436	VP26A_HUMAN			5	586	+			154					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.460C>T	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688303	0.68271	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000395098;ENST00000546041;ENST00000541711	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	L	0.53729	1.69	0.80722	D	1	D;D;B	0.71674	0.997;0.998;0.029	P;D;B	0.75020	0.854;0.985;0.027	T	0.66476	-0.5914	9	0.12430	T	0.62	-3.382	19.2582	0.93955	0.0:1.0:0.0:0.0	.	137;154;154	F5H4L7;A8MZ56;O75436	.;.;VP26A_HUMAN	F	154;154;154;137;43	.	ENSP00000263559:L154F	L	+	1	0	VPS26A	70587882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.442000	0.59988	2.622000	0.88805	0.655000	0.94253	CTT		PASS	0.328	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		10	42	10	42	---	---	---	---
H2AFY2	55506	broad.mit.edu	37	10	71860028	71860028	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:71860028C>T	ENST00000373255.4	+	7	1017	c.753C>T	c.(751-753)tcC>tcT	p.S251S	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	251	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.S251S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TTCGCAAATCCCAAGGCCCTT	0.547																																						uc001jqm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(751-753)TCC>TCT		H2A histone family, member Y2							59.0	52.0	55.0					10																	71860028		2203	4300	6503	SO:0001819	synonymous_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71860028C>T	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.753C>T	10.37:g.71860028C>T						H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	p.S251S	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN			7	1212	+			251			Macro.		Q5SQT2	Silent	SNP	ENST00000373255.4	37	c.753C>T	CCDS7296.1																																																																																				PASS	0.547	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		8	10	8	10	---	---	---	---
AIFM2	84883	broad.mit.edu	37	10	71877624	71877624	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:71877624G>A	ENST00000307864.1	-	6	773	c.560C>T	c.(559-561)tCc>tTc	p.S187F	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.S187F	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	187					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.S187F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGCCGGACGGAGGGCAGGAG	0.632																																						uc010qjg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(559-561)TCC>TTC		apoptosis-inducing factor (AIF)-like							79.0	73.0	75.0					10																	71877624		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71877624G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.560C>T	10.37:g.71877624G>A	ENSP00000312370:p.Ser187Phe					AIFM2_uc001jqp.1_Missense_Mutation_p.S187F	p.S187F	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN			5	573	-			187					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.560C>T	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426505	0.62733	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.58210	0.35;0.35	5.58	0.0922	0.14471	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.452767	0.27323	N	0.019891	T	0.50205	0.1602	L	0.46819	1.47	0.25445	N	0.988059	P	0.40107	0.703	P	0.45071	0.468	T	0.50923	-0.8770	10	0.54805	T	0.06	-1.8719	13.6543	0.62328	0.0:0.3403:0.5943:0.0654	.	187	Q9BRQ8	AIFM2_HUMAN	F	187;187;147	ENSP00000362345:S187F;ENSP00000312370:S187F	ENSP00000312370:S187F	S	-	2	0	AIFM2	71547630	0.996000	0.38824	0.923000	0.36655	0.982000	0.71751	1.651000	0.37302	-0.236000	0.09753	-0.479000	0.04858	TCC		PASS	0.632	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		10	28	10	28	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72358637	72358637	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:72358637C>T	ENST00000441259.1	-	3	1000	c.840G>A	c.(838-840)gaG>gaA	p.E280E	PRF1_ENST00000373209.2_Silent_p.E280E	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	280	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.E280E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCTTCTTCTCCTCACAGGCCT	0.592			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(838-840)GAG>GAA		perforin 1 precursor							231.0	144.0	173.0					10																	72358637		2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358637C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.840G>A	10.37:g.72358637C>T						PRF1_uc001jrf.3_Silent_p.E280E	p.E280E	NM_001083116	NP_001076585	P14222	PERF_HUMAN			3	1001	-			280			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.840G>A	CCDS7305.1																																																																																				PASS	0.592	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		11	32	11	32	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73567419	73567419	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:73567419C>T	ENST00000224721.6	+	58	8475	c.8470C>T	c.(8470-8472)Cca>Tca	p.P2824S	CDH23_ENST00000398788.3_Missense_Mutation_p.P579S|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2819	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.P2824S(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACCCTCCCCAACCCTCGA	0.622																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(8455-8457)CCA>TCA		cadherin-like 23 isoform 1 precursor							36.0	39.0	38.0					10																	73567419		2148	4250	6398	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567419C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8470C>T	10.37:g.73567419C>T	ENSP00000224721:p.Pro2824Ser					CDH23_uc001jsg.3_Missense_Mutation_p.P579S|CDH23_uc001jsh.3_Missense_Mutation_p.P579S|CDH23_uc001jsi.3_Missense_Mutation_p.P579S	p.P2819S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			57	8832	+			2819			Cadherin 26.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8455C>T		.	.	.	.	.	.	.	.	.	.	C	0.988	-0.694932	0.03303	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.55413	0.52	5.6	3.71	0.42584	Cadherin (3);	0.609454	0.16080	N	0.230556	T	0.29684	0.0741	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.23150	0.044;0.044	T	0.22103	-1.0226	10	0.17369	T	0.5	.	8.5377	0.33373	0.2715:0.6585:0.0:0.0701	.	2819;2819	E9PEX1;Q9H251	.;CAD23_HUMAN	S	2824;2819;2822;579	ENSP00000381768:P579S	ENSP00000224721:P2824S	P	+	1	0	CDH23	73237425	0.000000	0.05858	0.005000	0.12908	0.354000	0.29330	0.181000	0.16880	0.694000	0.31654	-0.271000	0.10264	CCA		PASS	0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	18	9	18	---	---	---	---
MCU	90550	broad.mit.edu	37	10	74628517	74628517	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:74628517C>A	ENST00000373053.3	+	5	574	c.553C>A	c.(553-555)Caa>Aaa	p.Q185K	MCU_ENST00000536019.1_Missense_Mutation_p.Q136K|MCU_ENST00000357157.6_Intron	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	185					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.Q185K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ATTGGTCCAGCAACTATACAC	0.403																																						uc001jtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CAA>AAA		coiled-coil domain containing 109A							114.0	105.0	108.0					10																	74628517		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74628517C>A	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.553C>A	10.37:g.74628517C>A	ENSP00000362144:p.Gln185Lys					CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Missense_Mutation_p.Q136K	p.Q185K	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			5	574	+	Prostate(51;0.0198)		185			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.553C>A	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480751	0.63849	.	.	ENSG00000156026	ENST00000373053;ENST00000536019	T;T	0.28895	1.59;1.59	5.76	5.76	0.90799	Coiled-coil domain containing protein 109, C-terminal (1);	0.105781	0.64402	D	0.000003	T	0.33990	0.0882	L	0.48642	1.525	0.80722	D	1	B;B	0.14012	0.004;0.009	B;B	0.28305	0.02;0.088	T	0.06917	-1.0800	10	0.23891	T	0.37	-10.9574	19.9659	0.97266	0.0:1.0:0.0:0.0	.	136;185	Q8NE86-3;Q8NE86	.;MCU_HUMAN	K	185;136	ENSP00000362144:Q185K;ENSP00000440913:Q136K	ENSP00000362144:Q185K	Q	+	1	0	MCU	74298523	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.752000	0.85141	2.711000	0.92665	0.650000	0.86243	CAA		PASS	0.403	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		4	69	4	69	---	---	---	---
MCU	90550	broad.mit.edu	37	10	74631134	74631134	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:74631134G>A	ENST00000373053.3	+	6	678		c.e6-1		MCU_ENST00000605416.1_Splice_Site|MCU_ENST00000536019.1_Splice_Site|MCU_ENST00000357157.6_Splice_Site	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter						calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GTGCCCAATAGGTACGAATTG	0.433																																						uc001jtc.2																			1	Unknown(1)		lung(1)		0						c.e6-1		coiled-coil domain containing 109A							212.0	210.0	211.0					10																	74631134		2203	4300	6503	SO:0001630	splice_region_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631134G>A	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.658-1G>A	10.37:g.74631134G>A						CCDC109A_uc009xqp.1_Splice_Site|CCDC109A_uc009xqq.1_Splice_Site|CCDC109A_uc010qjy.1_Splice_Site|CCDC109A_uc009xqr.2_Splice_Site_p.V199_splice|CCDC109A_uc001jtd.2_Splice_Site_p.V171_splice	p.V220_splice	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			6	679	+	Prostate(51;0.0198)							B2RDF3|B3KXV7|Q96FL3	Splice_Site	SNP	ENST00000373053.3	37	c.658_splice	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116895	0.56505	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4816	0.90813	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCU	74301140	1.000000	0.71417	0.998000	0.56505	0.301000	0.27625	4.299000	0.59073	2.804000	0.96469	0.650000	0.86243	.		PASS	0.433	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357	Intron	40	145	40	145	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74790090	74790090	+	Missense_Mutation	SNP	C	C	T	rs199926060		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:74790090C>T	ENST00000307116.2	-	10	1303	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	P4HA1_ENST00000412021.2_Missense_Mutation_p.R396Q|P4HA1_ENST00000263556.3_Missense_Mutation_p.R396Q|P4HA1_ENST00000394890.2_Missense_Mutation_p.R396Q|P4HA1_ENST00000373008.2_Missense_Mutation_p.R396Q|P4HA1_ENST00000440381.1_Missense_Mutation_p.R396Q			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	396					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.R396Q(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATATTAATTCGAGACACCAC	0.353																																					Colon(147;367 2405 2662 52127)	uc010qka.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1186-1188)CGA>CAA		prolyl 4-hydroxylase, alpha I subunit isoform 2	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						112.0	100.0	104.0					10																	74790090		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74790090C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1187G>A	10.37:g.74790090C>T	ENSP00000307318:p.Arg396Gln					P4HA1_uc001jtg.2_Missense_Mutation_p.R396Q|P4HA1_uc001jth.2_Missense_Mutation_p.R396Q|P4HA1_uc010qkb.1_Missense_Mutation_p.R396Q|P4HA1_uc001jti.2_RNA	p.R396Q	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN			11	1521	-	Prostate(51;0.0198)		396					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.1187G>A		.	.	.	.	.	.	.	.	.	.	C	19.31	3.802372	0.70682	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.31	5.31	0.75309	Prolyl 4-hydroxylase, alpha subunit (1);	0.224065	0.39615	N	0.001320	T	0.50000	0.1590	L	0.60957	1.885	0.58432	D	0.999999	B;B;B	0.26363	0.147;0.136;0.136	B;B;B	0.29267	0.1;0.063;0.063	T	0.50651	-0.8803	10	0.56958	D	0.05	-9.7936	18.555	0.91080	0.0:1.0:0.0:0.0	.	396;396;396	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Q	396	ENSP00000307318:R396Q;ENSP00000362099:R396Q;ENSP00000411688:R396Q;ENSP00000378353:R396Q;ENSP00000263556:R396Q;ENSP00000414464:R396Q	ENSP00000263556:R396Q	R	-	2	0	P4HA1	74460096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.064000	0.57506	2.449000	0.82847	0.655000	0.94253	CGA		PASS	0.353	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		9	18	9	18	---	---	---	---
ANXA7	310	broad.mit.edu	37	10	75157985	75157985	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:75157985G>A	ENST00000372921.5	-	3	269	c.213C>T	c.(211-213)ggC>ggT	p.G71G	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	71	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)	p.G71G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CACCAGGATAGCCTCCAGGGG	0.577																																						uc001jtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(211-213)GGC>GGT		annexin VII isoform 2							35.0	36.0	35.0					10																	75157985		2203	4300	6503	SO:0001819	synonymous_variant	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75157985G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.213C>T	10.37:g.75157985G>A						ANXA7_uc001jua.2_Silent_p.G71G|ANXA7_uc001jub.2_Silent_p.G31G|ANXA7_uc010qki.1_Silent_p.G31G|ANXA7_uc009xre.2_Intron|ANXA7_uc009xrf.1_Splice_Site_p.G71_splice	p.G71G	NM_004034	NP_004025	P20073	ANXA7_HUMAN			3	286	-	Prostate(51;0.0119)		71			Repeat-rich region.		Q5F2H3|Q5T0M6|Q5T0M7	Silent	SNP	ENST00000372921.5	37	c.213C>T	CCDS7325.1																																																																																				PASS	0.577	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		4	19	4	19	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75239120	75239120	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:75239120G>A	ENST00000360663.5	-	2	352	c.241C>T	c.(241-243)Ctt>Ttt	p.L81F	PPP3CB_ENST00000394829.2_Missense_Mutation_p.L81F|PPP3CB_ENST00000394828.2_Missense_Mutation_p.L81F|PPP3CB_ENST00000394822.2_Missense_Mutation_p.L81F|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000342558.3_Missense_Mutation_p.L81F			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	81	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.L81F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TCTCTCCGAAGGATGGCAGCA	0.393																																						uc001jue.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(241-243)CTT>TTT		protein phosphatase 3, catalytic subunit, beta							220.0	214.0	216.0					10																	75239120		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75239120G>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.241C>T	10.37:g.75239120G>A	ENSP00000353881:p.Leu81Phe					PPP3CB_uc001juf.2_Missense_Mutation_p.L81F|PPP3CB_uc001jug.2_Missense_Mutation_p.L81F|PPP3CB_uc001jui.2_Missense_Mutation_p.L81F|PPP3CB_uc001juh.2_5'UTR	p.L81F	NM_021132	NP_066955	P16298	PP2BB_HUMAN			2	376	-	Prostate(51;0.0119)		81			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.241C>T	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069969	0.55539	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000394822	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.61	5.61	0.85477	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.49916	D	0.000133	T	0.79667	0.4485	M	0.82193	2.58	0.80722	D	1	D;P;D;B	0.89917	0.99;0.77;1.0;0.412	D;B;D;B	0.79108	0.944;0.23;0.992;0.115	T	0.79720	-0.1685	10	0.41790	T	0.15	.	7.3277	0.26566	0.2003:0.0:0.7997:0.0	.	81;81;81;81	P16298-2;P16298-3;Q8N1F0;P16298	.;.;.;PP2BB_HUMAN	F	81	ENSP00000353881:L81F;ENSP00000378306:L81F;ENSP00000378305:L81F;ENSP00000343147:L81F;ENSP00000378299:L81F	ENSP00000343147:L81F	L	-	1	0	PPP3CB	74909126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.661000	0.90470	0.655000	0.94253	CTT		PASS	0.393	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		31	94	31	94	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75557002	75557002	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:75557002C>T	ENST00000605216.1	+	17	3608	c.3391C>T	c.(3391-3393)Cca>Tca	p.P1131S	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P1136S|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.P1136S|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P1131S|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P1098S	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1131							zinc ion binding (GO:0008270)	p.P1136S(1)|p.P516S(1)|p.P1131S(1)									ATGGGGGTCCCCAGGACGGCC	0.557																																						uc009xrl.2																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(3391-3393)CCA>TCA		hypothetical protein LOC23053							48.0	48.0	48.0					10																	75557002		1879	4110	5989	SO:0001583	missense	23053						zinc ion binding	g.chr10:75557002C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3391C>T	10.37:g.75557002C>T	ENSP00000474748:p.Pro1131Ser					KIAA0913_uc001jve.2_Missense_Mutation_p.P1136S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1131S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.P566S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P554S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P554S|KIAA0913_uc009xrn.1_5'Flank	p.P1131S	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			17	3423	+	Prostate(51;0.0112)		1131					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3391C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.44|18.44	3.623756|3.623756	0.66901|0.66901	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706	.|T	.|0.42900	.|0.96	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|0.000000	0.64402|0.64402	U|U	0.000004|0.000004	T|T	0.62429|0.62429	0.2427|0.2427	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.996;0.996;0.996	T|T	0.59053|0.59053	-0.7526|-0.7526	6|10	.|0.34782	.|T	.|0.22	-3.7173|-3.7173	18.3155|18.3155	0.90220|0.90220	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1131;1143;1131;1136	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	L|S	846|1136	.|ENSP00000381693:P1136S	.|ENSP00000381693:P1136S	P|P	+|+	2|1	0|0	KIAA0913|KIAA0913	75227008|75227008	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.727000|0.727000	0.41649|0.41649	7.397000|7.397000	0.79903|0.79903	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	CCC|CCA		PASS	0.557	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		10	13	10	13	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75557617	75557617	+	Silent	SNP	C	C	T	rs376077155		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:75557617C>T	ENST00000605216.1	+	19	3943	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	ZSWIM8_ENST00000398706.2_Silent_p.F1247F|ZSWIM8_ENST00000604729.1_Silent_p.F1247F|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Silent_p.F1242F|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.F1209F	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1242							zinc ion binding (GO:0008270)	p.F627F(1)|p.F1247F(1)|p.F1242F(1)									ACTTCTACTTCGAGCTGGCGA	0.597																																						uc009xrl.2																			3	Substitution - coding silent(3)		lung(3)	breast(1)	1						c.(3724-3726)TTC>TTT		hypothetical protein LOC23053		C	,,	1,4163		0,1,2081	66.0	72.0	70.0		3726,3726,3741	-2.0	1.0	10		70	1,8421		0,1,4210	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0913	NM_001242487.1,NM_001242488.1,NM_015037.3	,,	0,2,6291	TT,TC,CC		0.0119,0.024,0.0159	,,	1242/1838,1242/1893,1247/1843	75557617	2,12584	2082	4211	6293	SO:0001819	synonymous_variant	23053						zinc ion binding	g.chr10:75557617C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3726C>T	10.37:g.75557617C>T						KIAA0913_uc001jve.2_Silent_p.F1247F|KIAA0913_uc001jvf.2_Silent_p.F1242F|KIAA0913_uc001jvh.2_Intron|KIAA0913_uc001jvi.2_Silent_p.F677F|KIAA0913_uc010qkr.1_Silent_p.F665F|KIAA0913_uc001jvj.2_Silent_p.F665F|KIAA0913_uc009xrn.1_5'Flank	p.F1242F	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			19	3758	+	Prostate(51;0.0112)		1242					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.3726C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.40|10.40	1.341078|1.341078	0.24339|0.24339	2.4E-4|2.4E-4	1.19E-4|1.19E-4	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000412198	.|.	.|.	.|.	5.74|5.74	-1.99|-1.99	0.07457|0.07457	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53530	.|0.1802	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48445	.|-0.9035	.|4	.|.	.|.	.|.	-5.8732|-5.8732	8.3381|8.3381	0.32228|0.32228	0.0:0.3278:0.1101:0.5621|0.0:0.3278:0.1101:0.5621	.|.	.|.	.|.	.|.	X|L	958|517	.|.	.|.	R|S	+|+	1|2	2|0	KIAA0913|KIAA0913	75227623|75227623	0.929000|0.929000	0.31497|0.31497	0.985000|0.985000	0.45067|0.45067	0.996000|0.996000	0.88848|0.88848	-0.005000|-0.005000	0.12855|0.12855	-0.370000|-0.370000	0.08016|0.08016	-0.140000|-0.140000	0.14226|0.14226	CGA|TCG		PASS	0.597	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		16	32	16	32	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76781946	76781946	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:76781946C>T	ENST00000287239.4	+	16	3818	c.3329C>T	c.(3328-3330)cCc>cTc	p.P1110L	KAT6B_ENST00000372725.1_Missense_Mutation_p.P818L|KAT6B_ENST00000372724.1_Missense_Mutation_p.P818L|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.P927L|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.P818L|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1110					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P1110L(1)									CAAAGCTCTCCCCCAAGATTG	0.418											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jwn.1										T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(3328-3330)CCC>CTC		MYST histone acetyltransferase (monocytic							79.0	72.0	74.0					10																	76781946		2185	4289	6474	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76781946C>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3329C>T	10.37:g.76781946C>T	ENSP00000287239:p.Pro1110Leu		OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	MYST4_uc001jwm.1_Missense_Mutation_p.P818L|MYST4_uc001jwo.1_Missense_Mutation_p.P818L|MYST4_uc001jwp.1_Missense_Mutation_p.P927L	p.P1110L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			16	3822	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1110					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3329C>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431619	0.43122	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79352	2.26;2.26;2.04;2.26;-1.26	5.95	5.95	0.96441	.	0.131997	0.34652	N	0.003786	D	0.86896	0.6043	M	0.62723	1.935	0.80722	D	1	D;P;D	0.76494	0.996;0.944;0.999	D;P;D	0.78314	0.937;0.646;0.991	D	0.85876	0.1419	10	0.49607	T	0.09	-10.4513	18.5607	0.91098	0.0:1.0:0.0:0.0	.	927;818;1110	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	L	818;818;1110;818;927	ENSP00000361810:P818L;ENSP00000361809:P818L;ENSP00000287239:P1110L;ENSP00000361799:P818L;ENSP00000361796:P927L	ENSP00000287239:P1110L	P	+	2	0	KAT6B	76451952	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.852000	0.55934	2.822000	0.97130	0.563000	0.77884	CCC		PASS	0.418	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		16	40	16	40	---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79566528	79566528	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:79566528G>A	ENST00000372391.2	-	26	4960	c.4955C>T	c.(4954-4956)cCc>cTc	p.P1652L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.P1312L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1652	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.P1652L(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATATTTGCTGGGAATCTGCCC	0.642																																						uc001jzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(3)	8						c.(4954-4956)CCC>CTC		discs large homolog 5							101.0	103.0	102.0					10																	79566528		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79566528G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4955C>T	10.37:g.79566528G>A	ENSP00000361467:p.Pro1652Leu					DLG5_uc001jzi.2_Missense_Mutation_p.P407L|DLG5_uc001jzj.2_Missense_Mutation_p.P1067L|DLG5_uc009xru.1_RNA	p.P1652L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		26	5025	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1652			SH3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4955C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	35	5.460106	0.96240	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.72394	-0.65;-0.65;-0.65	5.87	5.87	0.94306	Src homology-3 domain (3);	0.000000	0.38605	N	0.001621	D	0.89805	0.6821	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91610	0.5302	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1652;1312	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	L	1652;613;1312	ENSP00000361467:P1652L;ENSP00000394797:P613L;ENSP00000361464:P1312L	ENSP00000361464:P1312L	P	-	2	0	DLG5	79236534	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.642	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			19	44	19	44	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79745903	79745903	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:79745903G>A	ENST00000372371.3	-	22	3053	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	972					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.F972F(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCCCTTAATGAATTTTTTTA	0.358																																						uc001jzn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2914-2916)TTC>TTT		polymerase (RNA) III (DNA directed) polypeptide							123.0	126.0	125.0					10																	79745903		2203	4300	6503	SO:0001819	synonymous_variant	11128				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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79745903G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2916C>T	10.37:g.79745903G>A							p.F972F	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		22	3010	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		972					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.2916C>T	CCDS7354.1																																																																																				PASS	0.358	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		13	27	13	27	---	---	---	---
MAT1A	4143	broad.mit.edu	37	10	82040000	82040000	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:82040000G>A	ENST00000372213.3	-	5	738	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	160					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.L160F(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CGGGCGTTGAGCTTGTGAGCA	0.622																																						uc001kbw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CTC>TTC		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						85.0	88.0	87.0					10																	82040000		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82040000G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.478C>T	10.37:g.82040000G>A	ENSP00000361287:p.Leu160Phe						p.L160F	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		5	733	-			160					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.478C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515898	0.64634	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.88354	-2.37;-2.37	4.91	4.91	0.64330	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.118768	0.64402	D	0.000017	D	0.96231	0.8771	H	0.96175	3.78	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97489	1.0052	10	0.87932	D	0	-30.2873	15.935	0.79694	0.0:0.0:1.0:0.0	.	160	Q00266	METK1_HUMAN	F	160;160;97	ENSP00000361287:L160F;ENSP00000414961:L97F	ENSP00000361280:L160F	L	-	1	0	MAT1A	82029980	1.000000	0.71417	0.982000	0.44146	0.195000	0.23768	7.602000	0.82796	2.442000	0.82660	0.655000	0.94253	CTC		PASS	0.622	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		23	37	23	37	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85968083	85968083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:85968083C>T	ENST00000372117.3	+	11	1220	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q373*|CDHR1_ENST00000440770.2_Nonsense_Mutation_p.Q132*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	373	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.Q373*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCACCCACCCCAGGGAGAGAT	0.567																																						uc001kcv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CAG>TAG		protocadherin 21 precursor							74.0	72.0	72.0					10																	85968083		2203	4300	6503	SO:0001587	stop_gained	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85968083C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1117C>T	10.37:g.85968083C>T	ENSP00000361189:p.Gln373*					CDHR1_uc001kcw.2_Nonsense_Mutation_p.Q373*|CDHR1_uc009xst.2_Nonsense_Mutation_p.Q132*	p.Q373*	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			11	1117	+			373			Cadherin 4.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Nonsense_Mutation	SNP	ENST00000372117.3	37	c.1117C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052112	0.93793	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	.	.	.	5.71	4.79	0.61399	.	0.267424	0.40908	D	0.000999	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.0498	12.4245	0.55538	0.0:0.6492:0.3508:0.0	.	.	.	.	X	373;373;132	.	ENSP00000331063:Q373X	Q	+	1	0	CDHR1	85958063	1.000000	0.71417	0.997000	0.53966	0.574000	0.36063	6.864000	0.75494	2.701000	0.92244	0.591000	0.81541	CAG		PASS	0.567	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		12	21	12	21	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85991971	85991971	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:85991971G>A	ENST00000372105.3	-	4	1605	c.1584C>T	c.(1582-1584)atC>atT	p.I528I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	528						integral component of endoplasmic reticulum membrane (GO:0030176)		p.I528I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACCACATTGATAAGCTGCT	0.547																																						uc001kcz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1582-1584)ATC>ATT		retina specific protein PAL							97.0	78.0	84.0					10																	85991971		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85991971G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1584C>T	10.37:g.85991971G>A							p.I528I	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1606	-			528			Helical; (Potential).		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1584C>T	CCDS7373.1																																																																																				PASS	0.547	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	18	6	18	---	---	---	---
RGR	5995	broad.mit.edu	37	10	86012761	86012761	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:86012761G>A	ENST00000359452.4	+	4	557	c.519G>A	c.(517-519)ggG>ggA	p.G173G	RGR_ENST00000358110.5_Silent_p.G169G	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	169					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.G173G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACTCCAAGGGGGACAGGTGAG	0.577																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(505-507)GGG>GGA		retinal G-protein coupled receptor isoform 2							54.0	42.0	46.0					10																	86012761		2203	4300	6503	SO:0001819	synonymous_variant	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86012761G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.519G>A	10.37:g.86012761G>A						RGR_uc001kdd.1_Silent_p.G173G|RGR_uc001kde.1_Silent_p.G169G	p.G169G	NM_001012720	NP_001012738	P47804	RGR_HUMAN			4	545	+			169			Extracellular (Potential).		A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	c.507G>A	CCDS7374.1																																																																																				PASS	0.577	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		6	25	6	25	---	---	---	---
CCSER2	54462	broad.mit.edu	37	10	86198290	86198290	+	Missense_Mutation	SNP	C	C	T	rs563138001		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:86198290C>T	ENST00000224756.8	+	6	2076	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S	CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000372088.2_Missense_Mutation_p.P631S|CCSER2_ENST00000543283.1_Missense_Mutation_p.P58S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	631					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.P631S(1)									TAGAGAATCTCCTTTGGGTCA	0.393																																						uc001kdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1891-1893)CCT>TCT		granule cell antiserum positive 14							105.0	101.0	102.0					10																	86198290		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86198290C>T		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1891C>T	10.37:g.86198290C>T	ENSP00000224756:p.Pro631Ser					FAM190B_uc010qmd.1_Missense_Mutation_p.P631S|FAM190B_uc001kdi.1_Intron|FAM190B_uc010qme.1_Missense_Mutation_p.P58S	p.P631S	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			6	2085	+			631					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1891C>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311598	0.60414	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.22539	2.32;2.31;1.95	5.83	5.83	0.93111	.	0.093138	0.47852	D	0.000213	T	0.33118	0.0852	L	0.34521	1.04	0.36802	D	0.885406	D;D	0.76494	0.999;0.996	D;P	0.67382	0.951;0.805	T	0.11397	-1.0589	10	0.45353	T	0.12	-21.1722	13.228	0.59924	0.0:0.8406:0.1594:0.0	.	631;631	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	S	631;631;58	ENSP00000224756:P631S;ENSP00000361160:P631S;ENSP00000439944:P58S	ENSP00000224756:P631S	P	+	1	0	FAM190B	86188270	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.743000	0.26231	2.756000	0.94617	0.655000	0.94253	CCT		PASS	0.393	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		36	45	36	45	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87373363	87373363	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:87373363T>C	ENST00000327946.7	-	15	2487	c.2402A>G	c.(2401-2403)aAg>aGg	p.K801R	GRID1_ENST00000552278.2_5'Flank|GRID1_ENST00000536331.1_Missense_Mutation_p.K372R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	801					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.K801R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCACTTCTGCTTCAGCACATC	0.617										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(2401-2403)AAG>AGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						78.0	83.0	81.0					10																	87373363		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87373363T>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2402A>G	10.37:g.87373363T>C	ENSP00000330148:p.Lys801Arg	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K372R	p.K801R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			15	2503	-			801			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2402A>G	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082810	0.76528	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27104	1.69;1.69	5.46	5.46	0.80206	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.37466	1.105	0.80722	D	1	D	0.57899	0.981	D	0.70935	0.971	T	0.28267	-1.0049	10	0.72032	D	0.01	.	14.7069	0.69198	0.0:0.0:0.0:1.0	.	801	Q9ULK0	GRID1_HUMAN	R	801;372	ENSP00000330148:K801R;ENSP00000444455:K372R	ENSP00000330148:K801R	K	-	2	0	GRID1	87363343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.075000	0.62263	0.454000	0.30748	AAG		PASS	0.617	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		23	21	23	21	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87628904	87628904	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:87628904G>A	ENST00000327946.7	-	6	899	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	272					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.H272Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGGGCACTATGGACCAGATCC	0.507										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(814-816)CAT>TAT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						149.0	131.0	137.0					10																	87628904		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628904G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.814C>T	10.37:g.87628904G>A	ENSP00000330148:p.His272Tyr	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.H272Y	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	915	-			272			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.814C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551987	0.27739	.	.	ENSG00000182771	ENST00000327946	D	0.82893	-1.66	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87063	0.6084	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	T	0.81433	-0.0935	10	0.02654	T	1	.	19.0974	0.93258	0.0:0.0:1.0:0.0	.	272	Q9ULK0	GRID1_HUMAN	Y	272	ENSP00000330148:H272Y	ENSP00000330148:H272Y	H	-	1	0	GRID1	87618884	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.843000	0.86859	2.745000	0.94114	0.655000	0.94253	CAT		PASS	0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		28	44	28	44	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87628913	87628913	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:87628913C>T	ENST00000327946.7	-	6	890	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	269					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D269N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGGACCAGATCCAGGATCTCC	0.498										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(805-807)GAT>AAT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						138.0	123.0	128.0					10																	87628913		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628913C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.805G>A	10.37:g.87628913C>T	ENSP00000330148:p.Asp269Asn	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.D269N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	906	-			269			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.805G>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942315	0.73672	.	.	ENSG00000182771	ENST00000327946	D	0.83673	-1.75	5.82	5.82	0.92795	Extracellular ligand-binding receptor (1);	0.044244	0.85682	D	0.000000	T	0.72153	0.3425	N	0.08118	0	0.80722	D	1	B	0.25048	0.117	B	0.24701	0.055	T	0.69702	-0.5074	10	0.62326	D	0.03	.	19.0974	0.93258	0.0:1.0:0.0:0.0	.	269	Q9ULK0	GRID1_HUMAN	N	269	ENSP00000330148:D269N	ENSP00000330148:D269N	D	-	1	0	GRID1	87618893	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.802000	0.85969	2.745000	0.94114	0.655000	0.94253	GAT		PASS	0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		19	52	19	52	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	88123702	88123702	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:88123702C>T	ENST00000327946.7	-	2	316	c.231G>A	c.(229-231)caG>caA	p.Q77Q		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	77					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.Q77Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ACTCACCTTCCTGCACAGCCT	0.637										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(229-231)CAG>CAA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						226.0	143.0	171.0					10																	88123702		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88123702C>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.231G>A	10.37:g.88123702C>T		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.Q77Q	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			2	332	-			77			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.231G>A	CCDS31236.1																																																																																				PASS	0.637	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		17	37	17	37	---	---	---	---
LDB3	11155	broad.mit.edu	37	10	88441531	88441531	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:88441531G>A	ENST00000361373.4	+	4	681	c.660G>A	c.(658-660)ggG>ggA	p.G220G	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.G220G|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Silent_p.G220G|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Silent_p.G220G|LDB3_ENST00000542786.1_Silent_p.G220G|LDB3_ENST00000372066.3_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3									p.G220G(6)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCTCCGAGGGAAGGCCTCGG	0.627																																						uc001kdv.2																			6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(658-660)GGG>GGA		LIM domain binding 3 isoform 1							65.0	74.0	71.0					10																	88441531		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441531G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.660G>A	10.37:g.88441531G>A						LDB3_uc010qml.1_Silent_p.G220G|LDB3_uc010qmm.1_Silent_p.G220G|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.G220G|LDB3_uc001kds.2_Silent_p.G220G|LDB3_uc001kdt.2_RNA	p.G220G	NM_007078	NP_009009	O75112	LDB3_HUMAN			4	683	+			220						Silent	SNP	ENST00000361373.4	37	c.660G>A	CCDS7377.1																																																																																				PASS	0.627	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			25	36	25	36	---	---	---	---
ATAD1	84896	broad.mit.edu	37	10	89516631	89516631	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:89516631A>G	ENST00000308448.7	-	9	1258	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	ATAD1_ENST00000328142.3_Missense_Mutation_p.F294L|ATAD1_ENST00000400215.3_Missense_Mutation_p.F206L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	294					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F294L(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CTTCCTGAAAACCCATCAGTT	0.348																																						uc001key.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(880-882)TTT>CTT		ATPase family, AAA domain containing 1							124.0	111.0	115.0					10																	89516631		2203	4300	6503	SO:0001583	missense	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89516631A>G	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.880T>C	10.37:g.89516631A>G	ENSP00000339017:p.Phe294Leu					ATAD1_uc010qmr.1_Missense_Mutation_p.F206L|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.F294L	p.F294L	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	8	1163	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	294					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	c.880T>C	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.218318	0.58560	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215	D;D;D	0.98150	-4.75;-4.75;-4.75	5.19	5.19	0.71726	.	0.044969	0.85682	D	0.000000	D	0.95211	0.8447	L	0.44542	1.39	0.80722	D	1	B;B	0.24963	0.03;0.115	B;B	0.21360	0.02;0.034	D	0.93604	0.6933	9	.	.	.	-19.2838	15.3447	0.74327	1.0:0.0:0.0:0.0	.	206;294	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	L	294;294;206	ENSP00000339017:F294L;ENSP00000339016:F294L;ENSP00000412968:F206L	.	F	-	1	0	ATAD1	89506611	1.000000	0.71417	0.954000	0.39281	0.985000	0.73830	6.349000	0.73013	2.083000	0.62718	0.482000	0.46254	TTT		PASS	0.348	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		14	42	14	42	---	---	---	---
LIPJ	142910	broad.mit.edu	37	10	90356157	90356157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:90356157G>A	ENST00000371939.3	+	7	874	c.560G>A	c.(559-561)tGg>tAg	p.W187*		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	187					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.W187*(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ACATACAAATGGAAGTCAATA	0.284																																						uc001kff.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(559-561)TGG>TAG		lipase, family member J							50.0	52.0	51.0					10																	90356157		2192	4277	6469	SO:0001587	stop_gained	142910				lipid catabolic process		hydrolase activity	g.chr10:90356157G>A	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.560G>A	10.37:g.90356157G>A	ENSP00000361007:p.Trp187*						p.W187*	NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	7	874	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	187					A8MT98|Q0P671	Nonsense_Mutation	SNP	ENST00000371939.3	37	c.560G>A	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119655	0.77323	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	.	.	.	3.91	-6.55	0.01854	.	1.567270	0.04183	N	0.326903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-30.2327	7.0741	0.25195	0.0:0.2669:0.2789:0.4542	.	.	.	.	X	187;51	.	ENSP00000361007:W187X	W	+	2	0	LIPJ	90346137	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.897000	0.04110	-1.435000	0.01972	-0.188000	0.12872	TGG		PASS	0.284	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		8	19	8	19	---	---	---	---
FAS	355	broad.mit.edu	37	10	90762814	90762814	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:90762814C>T	ENST00000355279.2	+	2	59	c.59C>T	c.(58-60)tCc>tTc	p.S20F	FAS_ENST00000355740.2_Missense_Mutation_p.S20F|FAS_ENST00000352159.4_Missense_Mutation_p.S20F|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.S20F			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S20F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	AGATTATCGTCCAAAAGTGTT	0.393																																						uc001kfr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(58-60)TCC>TTC		tumor necrosis factor receptor superfamily,							133.0	126.0	129.0					10																	90762814		2203	4300	6503	SO:0001583	missense	355	Autoimmune_Lymphoproliferative_syndrome_type_I			activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90762814C>T	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.59C>T	10.37:g.90762814C>T	ENSP00000347426:p.Ser20Phe					FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.S20F|FAS_uc001kft.2_Missense_Mutation_p.S20F|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Missense_Mutation_p.S20F|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	p.S20F	NM_000043	NP_000034	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	2	405	+		Colorectal(252;0.0161)	20					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355279.2	37	c.59C>T	CCDS7395.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774460	0.31411	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;T;D;T	0.93712	-3.27;-0.84;-2.24;-0.75	3.46	0.434	0.16539	.	6.309780	0.00166	N	0.000008	D	0.94820	0.8327	L	0.49350	1.555	0.09310	N	1	D;B;B;B	0.76494	0.999;0.071;0.293;0.042	D;B;B;B	0.83275	0.996;0.072;0.052;0.033	T	0.81739	-0.0795	10	0.52906	T	0.07	0.4469	3.2299	0.06745	0.0:0.5068:0.2266:0.2666	.	20;20;20;20	P25445-4;P25445-6;Q5T9P3;P25445	.;.;.;TNR6_HUMAN	F	47;20;20;20;20;20	ENSP00000347979:S20F;ENSP00000345601:S20F;ENSP00000349896:S20F;ENSP00000347426:S20F	ENSP00000345601:S20F	S	+	2	0	FAS	90752794	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.911000	0.04050	0.098000	0.17522	0.561000	0.74099	TCC		PASS	0.393	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			22	38	22	38	---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93389948	93389948	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:93389948C>T	ENST00000238994.5	-	2	774	c.690G>A	c.(688-690)caG>caA	p.Q230Q		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C									p.Q230Q(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACTCAATTTTCTGCTCAGTTG	0.403																																						uc001kho.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(688-690)CAG>CAA		protein phosphatase 1, regulatory (inhibitor)							96.0	91.0	93.0					10																	93389948		2203	4300	6503	SO:0001819	synonymous_variant	5507						protein serine/threonine phosphatase activity	g.chr10:93389948C>T	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.690G>A	10.37:g.93389948C>T							p.Q230Q	NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN			2	822	-		Colorectal(252;0.235)	230			Interaction with EPM2A.|CBM21.			Silent	SNP	ENST00000238994.5	37	c.690G>A	CCDS7416.1																																																																																				PASS	0.403	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		25	36	25	36	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96006327	96006327	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:96006327C>T	ENST00000371380.3	+	7	3280	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	PLCE1_ENST00000371375.1_Silent_p.F707F|PLCE1_ENST00000260766.3_Silent_p.F1015F|PLCE1_ENST00000371385.3_Silent_p.F707F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1015					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.F1015F(1)|p.F707F(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGAGGAAATTCCCTGACCAAA	0.473																																						uc001kjk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(3043-3045)TTC>TTT		phospholipase C, epsilon 1 isoform 1							70.0	69.0	70.0					10																	96006327		1965	4153	6118	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96006327C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3045C>T	10.37:g.96006327C>T						PLCE1_uc010qnx.1_Silent_p.F1015F|PLCE1_uc001kjm.2_Silent_p.F707F	p.F1015F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3679	+		Colorectal(252;0.0458)	1015					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.3045C>T	CCDS41552.1																																																																																				PASS	0.473	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		4	36	4	36	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	96084289	96084290	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:96084289_96084290GG>AA	ENST00000371380.3	+	30	6920_6921	c.6685_6686GG>AA	c.(6685-6687)GGa>AAa	p.G2229K	PLCE1_ENST00000371375.1_Missense_Mutation_p.G1921K|PLCE1_ENST00000260766.3_Missense_Mutation_p.G2229K|PLCE1_ENST00000371385.3_Missense_Mutation_p.G1921K|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2229	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.G2229K(1)|p.G1921R(1)|p.G2229E(1)|p.G1921E(1)|p.G2229R(1)|p.G1921K(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAAAGGTGCAGGAAAATTCATC	0.431																																						uc001kjk.2																			6	Substitution - Missense(6)		lung(6)	ovary(2)|skin(1)	3						c.(6685-6687)GGA>AGA|c.(6685-6687)GGA>GAA		phospholipase C, epsilon 1 isoform 1																																				SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96084289G>A|g.chr10:96084290G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	Exception_encountered	10.37:g.96084289_96084290delinsAA	ENSP00000360431:p.Gly2229Lys					PLCE1_uc010qnx.1_Missense_Mutation_p.G2213R|PLCE1_uc001kjm.2_Missense_Mutation_p.G1921R|PLCE1_uc001kjp.2_Missense_Mutation_p.G587R|PLCE1_uc010qnx.1_Missense_Mutation_p.G2213E|PLCE1_uc001kjm.2_Missense_Mutation_p.G1921E|PLCE1_uc001kjp.2_Missense_Mutation_p.G587E	p.G2229R|p.G2229E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			31	7319|7320	+		Colorectal(252;0.0458)	2229			Ras-associating 2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6685G>A|c.6686G>A	CCDS41552.1																																																																																				PASS	0.431	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		59|56	72|70	56	70	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96522510	96522510	+	Silent	SNP	C	C	T	rs267602631		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:96522510C>T	ENST00000371321.3	+	1	130	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	16					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.L16L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GTTTGCTTCTCCTTTCAATCT	0.463																																						uc010qnz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(46-48)CTC>CTT		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						238.0	228.0	231.0					10																	96522510		2203	4300	6503	SO:0001819	synonymous_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96522510C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.48C>T	10.37:g.96522510C>T						CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	p.L16L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	1	48	+		Colorectal(252;0.09)	16					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	c.48C>T	CCDS7436.1																																																																																				PASS	0.463	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		34	105	34	105	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96541623	96541623	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:96541623C>T	ENST00000371321.3	+	5	770	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	230					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.H230Y(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCGGGAACCCATAACAAATT	0.303																																						uc010qnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(688-690)CAT>TAT		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						56.0	62.0	60.0					10																	96541623		2202	4300	6502	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96541623C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.688C>T	10.37:g.96541623C>T	ENSP00000360372:p.His230Tyr					CYP2C19_uc009xus.1_Missense_Mutation_p.H95Y|CYP2C19_uc010qny.1_Missense_Mutation_p.H208Y	p.H230Y	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	5	688	+		Colorectal(252;0.09)	230					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.688C>T	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194850	0.38806	.	.	ENSG00000165841	ENST00000371321	T	0.69561	-0.41	4.13	3.22	0.36961	.	0.084417	0.48767	U	0.000163	T	0.70413	0.3221	M	0.62723	1.935	0.28447	N	0.916532	P	0.51791	0.948	P	0.53102	0.718	T	0.66044	-0.6021	10	0.72032	D	0.01	.	9.4088	0.38477	0.0:0.8937:0.0:0.1063	.	230	P33261	CP2CJ_HUMAN	Y	230	ENSP00000360372:H230Y	ENSP00000360372:H230Y	H	+	1	0	CYP2C19	96531613	0.840000	0.29493	0.009000	0.14445	0.007000	0.05969	1.959000	0.40412	0.964000	0.38108	0.508000	0.49915	CAT		PASS	0.303	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		12	30	12	30	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96541692	96541692	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:96541692G>A	ENST00000371321.3	+	5	839	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	253					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.E253K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGAACACCAAGAATCGATGGA	0.358																																						uc010qnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(757-759)GAA>AAA		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						115.0	114.0	115.0					10																	96541692		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96541692G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.757G>A	10.37:g.96541692G>A	ENSP00000360372:p.Glu253Lys					CYP2C19_uc009xus.1_Missense_Mutation_p.E118K|CYP2C19_uc010qny.1_Missense_Mutation_p.E231K	p.E253K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	5	757	+		Colorectal(252;0.09)	253					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.757G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424487	0.25639	.	.	ENSG00000165841	ENST00000371321	T	0.69435	-0.4	4.02	2.09	0.27110	.	0.186775	0.35436	U	0.003220	T	0.50051	0.1593	L	0.43757	1.38	0.24866	N	0.992317	B	0.12630	0.006	B	0.10450	0.005	T	0.27739	-1.0065	10	0.23891	T	0.37	.	4.1185	0.10094	0.2161:0.1953:0.5886:0.0	.	253	P33261	CP2CJ_HUMAN	K	253	ENSP00000360372:E253K	ENSP00000360372:E253K	E	+	1	0	CYP2C19	96531682	0.008000	0.16893	0.234000	0.24042	0.292000	0.27327	0.966000	0.29331	0.340000	0.23745	0.508000	0.49915	GAA		PASS	0.358	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		23	47	23	47	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97194428	97194428	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:97194428G>A	ENST00000361941.3	-	3	149	c.123C>T	c.(121-123)atC>atT	p.I41I	SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Silent_p.I41I|SORBS1_ENST00000354106.3_Silent_p.I41I|SORBS1_ENST00000371247.2_Silent_p.I41I|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.I41I(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCACAGGAATGATTTTAACAG	0.463																																						uc001kkp.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(121-123)ATC>ATT		sorbin and SH3 domain containing 1 isoform 3							108.0	111.0	110.0					10																	97194428		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97194428G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.123C>T	10.37:g.97194428G>A						SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Silent_p.I29I|SORBS1_uc001kko.2_Silent_p.I41I|SORBS1_uc001kkq.2_Silent_p.I41I|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Silent_p.I41I|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Silent_p.I41I|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	p.I41I	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	3	168	-		Colorectal(252;0.0429)	41						Silent	SNP	ENST00000361941.3	37	c.123C>T	CCDS31255.1																																																																																				PASS	0.463	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			14	51	14	51	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97918954	97918954	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:97918954C>T	ENST00000534948.1	+	0	3732							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.P959S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAATGCACTTCCATTGGTTAA	0.358																																						uc001klp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2875-2877)CCA>TCA		zinc finger protein 518							90.0	91.0	91.0					10																	97918954		1814	4064	5878			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918954C>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918954C>T						ZNF518A_uc001klo.1_Missense_Mutation_p.P429S|ZNF518A_uc001klq.2_Missense_Mutation_p.P959S|ZNF518A_uc001klr.2_Missense_Mutation_p.P959S	p.P959S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	3732	+		Colorectal(252;0.0815)	959					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.2875C>T																																																																																					PASS	0.358	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		25	74	25	74	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98303964	98303964	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:98303964C>T	ENST00000371142.4	-	9	1271		c.e9-1		TM9SF3_ENST00000490192.1_Splice_Site	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3							integral component of membrane (GO:0016021)		p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATCTCCTTCCTGAAAAGAAA	0.299																																						uc001kmm.3																			1	Unknown(1)		lung(1)		0						c.e9-1		transmembrane 9 superfamily member 3 precursor							55.0	50.0	52.0					10																	98303964		2203	4300	6503	SO:0001630	splice_region_variant	56889					integral to membrane	binding	g.chr10:98303964C>T	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1055-1G>A	10.37:g.98303964C>T						TM9SF3_uc010qot.1_Splice_Site_p.G352_splice|TM9SF3_uc001kmn.1_Intron	p.G352_splice	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	9	1272	-		Colorectal(252;0.158)						Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Splice_Site	SNP	ENST00000371142.4	37	c.1055_splice	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360465	0.82353	.	.	ENSG00000077147	ENST00000371142	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1497	0.89671	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TM9SF3	98293954	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.711000	0.84669	2.519000	0.84933	0.591000	0.81541	.		PASS	0.299	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	Intron	7	18	7	18	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98742645	98742645	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:98742645C>T	ENST00000286067.2	+	1	1605	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	500								p.P500S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TAAAAAATTCCCTGAGGCCTC	0.418																																						uc001kmv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1498-1500)CCT>TCT		hypothetical protein LOC26148							58.0	64.0	62.0					10																	98742645		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98742645C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1498C>T	10.37:g.98742645C>T	ENSP00000286067:p.Pro500Ser						p.P500S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1605	+		Colorectal(252;0.172)	500					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1498C>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549813	0.45383	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07216	3.21	5.82	4.9	0.64082	.	0.660669	0.14082	U	0.342652	T	0.07638	0.0192	L	0.29908	0.895	0.09310	N	1	B	0.34329	0.449	B	0.35413	0.202	T	0.22941	-1.0202	10	0.06891	T	0.86	-0.7704	16.0553	0.80798	0.1353:0.8647:0.0:0.0	.	500	Q8N655	CJ012_HUMAN	S	500;334	ENSP00000286067:P500S	ENSP00000286067:P500S	P	+	1	0	C10orf12	98732635	0.052000	0.20516	0.055000	0.19348	0.901000	0.52897	2.694000	0.47035	1.431000	0.47355	0.561000	0.74099	CCT		PASS	0.418	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		35	65	35	65	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98766300	98766300	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:98766300C>T	ENST00000266058.4	-	32	3764	c.3519G>A	c.(3517-3519)cgG>cgA	p.R1173R	SLIT1_ENST00000371070.4_Silent_p.R1173R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1173	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1173R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTAAGTGTCCCGATCCACAA	0.597																																						uc001kmw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(3517-3519)CGG>CGA		slit homolog 1 precursor							86.0	61.0	70.0					10																	98766300		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98766300C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3519G>A	10.37:g.98766300C>T							p.R1173R	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	32	3771	-		Colorectal(252;0.162)	1173			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3519G>A	CCDS7453.1																																																																																				PASS	0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		11	11	11	11	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98766422	98766422	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:98766422C>T	ENST00000266058.4	-	32	3642	c.3397G>A	c.(3397-3399)Ggg>Agg	p.G1133R	SLIT1_ENST00000371070.4_Missense_Mutation_p.G1133R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1133	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1133R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACTCAGTCCCCTCACAGGGG	0.607																																						uc001kmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3397-3399)GGG>AGG		slit homolog 1 precursor							33.0	30.0	31.0					10																	98766422		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98766422C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3397G>A	10.37:g.98766422C>T	ENSP00000266058:p.Gly1133Arg						p.G1133R	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	32	3649	-		Colorectal(252;0.162)	1133			EGF-like 6.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3397G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.958077	0.34565	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87412	-2.25;-2.25	5.19	5.19	0.71726	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.207362	0.41823	D	0.000820	T	0.74435	0.3716	N	0.16130	0.375	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.68334	-0.5436	10	0.34782	T	0.22	.	8.0623	0.30640	0.0:0.638:0.278:0.0841	.	1133	O75093	SLIT1_HUMAN	R	1133	ENSP00000266058:G1133R;ENSP00000360109:G1133R	ENSP00000266058:G1133R	G	-	1	0	SLIT1	98756412	0.978000	0.34361	1.000000	0.80357	0.997000	0.91878	2.272000	0.43373	2.698000	0.92095	0.655000	0.94253	GGG		PASS	0.607	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		12	9	12	9	---	---	---	---
MORN4	118812	broad.mit.edu	37	10	99376965	99376965	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:99376965C>T	ENST00000307450.6	-	3	345	c.182G>A	c.(181-183)aGg>aAg	p.R61K	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_Splice_Site_p.R61K|MORN4_ENST00000335628.3_Splice_Site_p.R119K|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	61								p.R61K(2)		large_intestine(1)|lung(1)|stomach(2)	4						TCATACCCACCTTGAACCATC	0.448																																						uc001kob.3																			2	Substitution - Missense(2)		lung(2)		0						c.(181-183)AGG>AAG		MORN repeat containing 4							119.0	116.0	117.0					10																	99376965		2203	4300	6503	SO:0001630	splice_region_variant	118812							g.chr10:99376965C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.182+1G>A	10.37:g.99376965C>T						PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Missense_Mutation_p.R119K|MORN4_uc001kod.3_3'UTR|MORN4_uc001koe.2_Missense_Mutation_p.R61K|uc001kof.1_5'Flank	p.R61K	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN			3	453	-			61			MORN 2.		Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.182G>A	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396004	0.62177	.	.	ENSG00000171160	ENST00000307450;ENST00000478953;ENST00000515674;ENST00000335628	T;T;T	0.58210	0.35;0.35;0.35	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.28274	0.84	0.80722	D	1	D;P	0.71674	0.998;0.941	D;D	0.77557	0.99;0.973	T	0.57923	-0.7727	9	.	.	.	-28.0633	20.0247	0.97519	0.0:1.0:0.0:0.0	.	119;61	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	K	61;61;61;119	ENSP00000307636:R61K;ENSP00000441070:R61K;ENSP00000335498:R119K	.	R	-	2	0	MORN4	99366955	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.685000	0.84117	2.804000	0.96469	0.655000	0.94253	AGG		PASS	0.448	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832	Missense_Mutation	37	65	37	65	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101643884	101643884	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:101643884C>T	ENST00000324109.4	-	15	3972	c.3881G>A	c.(3880-3882)cGg>cAg	p.R1294Q	DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000543621.1_Missense_Mutation_p.R540Q|DNMBP_ENST00000342239.3_Missense_Mutation_p.R1318Q|DNMBP_ENST00000540316.1_Missense_Mutation_p.R230Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1294	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1294Q(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATTGAAGTTCCGTTCTGCCTG	0.512																																						uc001kqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(3880-3882)CGG>CAG		dynamin binding protein							84.0	84.0	84.0					10																	101643884		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101643884C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3881G>A	10.37:g.101643884C>T	ENSP00000315659:p.Arg1294Gln					DNMBP_uc010qpl.1_Missense_Mutation_p.R230Q|DNMBP_uc001kqg.2_Missense_Mutation_p.R582Q|DNMBP_uc001kqh.2_Missense_Mutation_p.R926Q	p.R1294Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	15	3973	-		Colorectal(252;0.234)	1294			SH3 5.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3881G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728779	0.96856	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.95	5.95	0.96441	Src homology-3 domain (2);	0.000000	0.44483	D	0.000441	T	0.72423	0.3458	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.988;0.997	T	0.63980	-0.6514	10	0.20519	T	0.43	-26.7278	19.9882	0.97356	0.0:1.0:0.0:0.0	.	1294;540;1318	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	Q	1318;1294;540;540;230	ENSP00000344914:R1318Q;ENSP00000315659:R1294Q;ENSP00000443657:R540Q;ENSP00000443573:R230Q	ENSP00000315659:R1294Q	R	-	2	0	DNMBP	101633874	1.000000	0.71417	0.981000	0.43875	0.858000	0.48976	7.759000	0.85235	2.824000	0.97209	0.655000	0.94253	CGG		PASS	0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		14	26	14	26	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102683984	102683984	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:102683984C>T	ENST00000238961.4	+	5	1768	c.1226C>T	c.(1225-1227)cCt>cTt	p.P409L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P409L|FAM178A_ENST00000370271.3_Missense_Mutation_p.P409L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	409						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P409L(1)									GGCTTGGCACCTTCAAATTCT	0.463																																						uc001krt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)CCT>CTT		hypothetical protein LOC55719 isoform 1							120.0	120.0	120.0					10																	102683984		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102683984C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1226C>T	10.37:g.102683984C>T	ENSP00000238961:p.Pro409Leu					FAM178A_uc001krr.1_Missense_Mutation_p.P409L|FAM178A_uc001krs.2_Missense_Mutation_p.P409L|FAM178A_uc001kru.1_Missense_Mutation_p.P344L	p.P409L	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			5	1768	+			409					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1226C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181203	0.57800	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.52057	0.68;1.36;1.35	5.37	5.37	0.77165	.	0.000000	0.51477	D	0.000084	T	0.56702	0.2003	L	0.27053	0.805	0.54753	D	0.999988	D;P;P;D	0.89917	0.959;0.875;0.875;1.0	P;P;P;D	0.91635	0.744;0.585;0.585;0.999	T	0.58896	-0.7555	10	0.87932	D	0	-10.5674	15.3459	0.74337	0.0:1.0:0.0:0.0	.	58;409;409;409	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	L	409	ENSP00000359294:P409L;ENSP00000238961:P409L;ENSP00000359292:P409L	ENSP00000238961:P409L	P	+	2	0	FAM178A	102673974	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.939000	0.56591	2.902000	0.99343	0.650000	0.86243	CCT		PASS	0.463	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			27	124	27	124	---	---	---	---
DPCD	25911	broad.mit.edu	37	10	103360569	103360569	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:103360569C>T	ENST00000370151.4	+	3	269	c.220C>T	c.(220-222)Cta>Tta	p.L74L	DPCD_ENST00000370148.2_Silent_p.L74L|DPCD_ENST00000370147.1_Silent_p.L74L|MIR3158-1_ENST00000583596.1_RNA	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	74					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)		p.L74L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						CCCAGCGCCCCTAGGAGCAGG	0.587																																						uc001ktn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(220-222)CTA>TTA		DPCD protein							73.0	72.0	72.0					10																	103360569		2203	4300	6503	SO:0001819	synonymous_variant	25911						protein binding	g.chr10:103360569C>T		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.220C>T	10.37:g.103360569C>T						hsa-mir-3158-1|MI0014186_5'Flank	p.L74L	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN			3	225	+			74					A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Silent	SNP	ENST00000370151.4	37	c.220C>T	CCDS7514.1																																																																																				PASS	0.587	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			9	29	9	29	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104141932	104141932	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:104141932C>T	ENST00000369983.3	+	40	5679	c.5419C>T	c.(5419-5421)Cca>Tca	p.P1807S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1807	Pro-rich.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P1807S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGCTCAGCCCCCACTGATCCT	0.692																																						uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5419-5421)CCA>TCA		golgi-specific brefeldin A resistant guanine							67.0	65.0	66.0					10																	104141932		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104141932C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5419C>T	10.37:g.104141932C>T	ENSP00000359000:p.Pro1807Ser					GBF1_uc001kuy.1_Missense_Mutation_p.P1803S|GBF1_uc001kuz.1_Missense_Mutation_p.P1804S	p.P1807S	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	40	5659	+		Colorectal(252;0.0236)	1807			Pro-rich.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.5419C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594145	0.86953	.	.	ENSG00000107862	ENST00000369983	T	0.09911	2.93	5.44	5.44	0.79542	.	0.050830	0.85682	D	0.000000	T	0.33089	0.0851	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.00722	-1.1594	10	0.66056	D	0.02	-11.6338	19.4432	0.94831	0.0:1.0:0.0:0.0	.	1803;1803;1807	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	1807	ENSP00000359000:P1807S	ENSP00000359000:P1807S	P	+	1	0	GBF1	104131922	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.112000	0.77086	2.833000	0.97629	0.650000	0.86243	CCA		PASS	0.692	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			15	21	15	21	---	---	---	---
INA	9118	broad.mit.edu	37	10	105046812	105046812	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:105046812G>A	ENST00000369849.4	+	2	1135	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	362	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.E362E(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGCAGCTGGAGAATGATCTGA	0.458																																						uc001kws.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1084-1086)GAG>GAA		internexin neuronal intermediate filament							121.0	104.0	110.0					10																	105046812		2203	4300	6503	SO:0001819	synonymous_variant	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105046812G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1086G>A	10.37:g.105046812G>A							p.E362E	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	1135	+			362			Coil 2.|Rod.		B1AQK0|Q9BRC5	Silent	SNP	ENST00000369849.4	37	c.1086G>A	CCDS7545.1																																																																																				PASS	0.458	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		13	18	13	18	---	---	---	---
INA	9118	broad.mit.edu	37	10	105046855	105046855	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:105046855C>T	ENST00000369849.4	+	2	1178	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	377	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.R377W(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACGCCACCTTCGGGAATACCA	0.463																																						uc001kws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1129-1131)CGG>TGG		internexin neuronal intermediate filament							123.0	103.0	110.0					10																	105046855		2203	4300	6503	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105046855C>T	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1129C>T	10.37:g.105046855C>T	ENSP00000358865:p.Arg377Trp						p.R377W	NM_032727	NP_116116	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	1178	+			377			Coil 2.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.1129C>T	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290805	0.80914	.	.	ENSG00000148798	ENST00000369849	D	0.90004	-2.6	5.43	5.43	0.79202	Filament (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	H	0.95043	3.615	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.96523	0.9387	10	0.87932	D	0	.	13.8519	0.63501	0.1889:0.8111:0.0:0.0	.	377	Q16352	AINX_HUMAN	W	377	ENSP00000358865:R377W	ENSP00000358865:R377W	R	+	1	2	INA	105036845	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.714000	0.47202	2.830000	0.97506	0.655000	0.94253	CGG		PASS	0.463	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		20	17	20	17	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105361813	105361813	+	Silent	SNP	G	G	A	rs199599121		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:105361813G>A	ENST00000369774.4	-	15	3438	c.3162C>T	c.(3160-3162)ccC>ccT	p.P1054P	SH3PXD2A_ENST00000538130.1_Silent_p.P889P|SH3PXD2A_ENST00000355946.2_Silent_p.P1026P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.P921P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1054					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.P1026P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CAGGGGACACGGGTATGCTGT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17313	0.0		0.001	False		,,,				2504	0.0					uc001kxj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(3076-3078)CCC>CCT		SH3 multiple domains 1							100.0	109.0	106.0					10																	105361813		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361813G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3162C>T	10.37:g.105361813G>A						SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.P861P|SH3PXD2A_uc010qqt.1_Silent_p.P903P|SH3PXD2A_uc009xxn.1_Silent_p.P861P|SH3PXD2A_uc010qqu.1_Silent_p.P969P	p.P1026P	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	14	3218	-		Colorectal(252;0.0815)|Breast(234;0.131)	1054					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.3078C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.925	-0.714587	0.03206	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.27	-7.93	0.01156	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47045	-0.9147	4	.	.	.	-16.0278	5.2938	0.15741	0.6219:0.091:0.1051:0.182	.	.	.	.	C	981	.	.	R	-	1	0	SH3PXD2A	105351803	0.000000	0.05858	0.610000	0.28997	0.557000	0.35523	-2.610000	0.00885	-1.591000	0.01621	-0.268000	0.10319	CGT		PASS	0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		22	56	22	56	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105912413	105912413	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:105912413C>T	ENST00000357060.3	-	28	3727	c.3612G>A	c.(3610-3612)ttG>ttA	p.L1204L	WDR96_ENST00000428666.1_Silent_p.L1205L	NM_025145.5	NP_079421.5												p.L1204L(1)|p.L1204F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTCTTTTCAAATGTTCAT	0.373																																						uc001kxw.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(3610-3612)TTG>TTA		hypothetical protein LOC80217							134.0	134.0	134.0					10																	105912413		2202	4300	6502	SO:0001819	synonymous_variant	80217							g.chr10:105912413C>T																												ENST00000357060.3:c.3612G>A	10.37:g.105912413C>T						C10orf79_uc009xxq.2_Silent_p.L512L	p.L1204L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	28	3728	-		Colorectal(252;0.178)	1204			Potential.			Silent	SNP	ENST00000357060.3	37	c.3612G>A	CCDS31281.1																																																																																				PASS	0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	50	4	50	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105944865	105944865	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:105944865G>A	ENST00000278064.2	-	16	2168	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y	WDR96_ENST00000428666.1_Missense_Mutation_p.H685Y|WDR96_ENST00000357060.3_Missense_Mutation_p.H684Y														p.H684Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAATCCCATGACCCTGGTGA	0.403																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2050-2052)CAT>TAT		hypothetical protein LOC80217							174.0	152.0	160.0					10																	105944865		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105944865G>A																												ENST00000278064.2:c.1843C>T	10.37:g.105944865G>A	ENSP00000278064:p.His615Tyr					C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.H685Y	p.H684Y	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	16	2166	-		Colorectal(252;0.178)	684			WD 9.			Missense_Mutation	SNP	ENST00000278064.2	37	c.2050C>T		.	.	.	.	.	.	.	.	.	.	G	11.66	1.703480	0.30232	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064	T;T;T	0.13901	2.55;2.55;2.55	5.24	3.28	0.37604	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.001350	0.08054	N	0.997084	T	0.15176	0.0366	L	0.57536	1.79	0.09310	N	1	P;P	0.44578	0.838;0.599	B;B	0.37550	0.253;0.245	T	0.17349	-1.0372	10	0.62326	D	0.03	.	9.3605	0.38192	0.0:0.2545:0.6054:0.1402	.	685;684	B4DHB6;Q8NDM7	.;WDR96_HUMAN	Y	684;685;615	ENSP00000349568:H684Y;ENSP00000400289:H685Y;ENSP00000278064:H615Y	ENSP00000278064:H615Y	H	-	1	0	WDR96	105934855	0.000000	0.05858	0.014000	0.15608	0.983000	0.72400	0.646000	0.24797	2.439000	0.82584	0.655000	0.94253	CAT		PASS	0.403	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			26	36	26	36	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106974253	106974253	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:106974253C>T	ENST00000369701.3	+	18	2656	c.2429C>T	c.(2428-2430)aCc>aTc	p.T810I	SORCS3_ENST00000369699.4_Missense_Mutation_p.T96I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	810					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T810I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGAAGTACACCGCCAAGGCC	0.537																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2428-2430)ACC>ATC		VPS10 domain receptor protein SORCS 3 precursor							109.0	94.0	99.0					10																	106974253		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106974253C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2429C>T	10.37:g.106974253C>T	ENSP00000358715:p.Thr810Ile					SORCS3_uc010qqz.1_RNA	p.T810I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	18	2656	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	810			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2429C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.135231	0.37728	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.66995	-0.24;-0.24	5.89	4.98	0.66077	VPS10 (1);PKD domain (1);	0.264165	0.37857	N	0.001909	T	0.56485	0.1988	L	0.52364	1.645	0.28806	N	0.898494	B	0.14805	0.011	B	0.14023	0.01	T	0.49916	-0.8888	9	.	.	.	.	7.6814	0.28515	0.1263:0.6859:0.1216:0.0662	.	810	Q9UPU3	SORC3_HUMAN	I	810;96	ENSP00000358715:T810I;ENSP00000358713:T96I	.	T	+	2	0	SORCS3	106964243	0.947000	0.32204	0.256000	0.24389	0.619000	0.37552	3.730000	0.55006	1.479000	0.48272	-0.310000	0.09108	ACC		PASS	0.537	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		11	46	11	46	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108366968	108366968	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:108366968C>T	ENST00000263054.6	-	23	3128	c.3121G>A	c.(3121-3123)Gat>Aat	p.D1041N	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.D1041N|SORCS1_ENST00000369698.1_Missense_Mutation_p.D576N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1041					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.D1041N(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAGCTGGATCCTGATAGGGT	0.547																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3121-3123)GAT>AAT		SORCS receptor 1 isoform a							94.0	90.0	91.0					10																	108366968		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366968C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3121G>A	10.37:g.108366968C>T	ENSP00000263054:p.Asp1041Asn					SORCS1_uc001kyl.2_Missense_Mutation_p.D1041N|SORCS1_uc009xxs.2_Missense_Mutation_p.D1041N|SORCS1_uc001kyn.1_Missense_Mutation_p.D1041N|SORCS1_uc001kyo.2_Missense_Mutation_p.D1041N	p.D1041N	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3129	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1041			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3121G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	6.182	0.401796	0.11696	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.21734	1.99;2.55;2.56	5.81	5.81	0.92471	.	0.206543	0.42821	D	0.000658	T	0.07638	0.0192	N	0.01277	-0.915	0.43841	D	0.996427	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.11329	0.002;0.006;0.006;0.004;0.006	T	0.37776	-0.9691	9	.	.	.	-14.3974	12.9494	0.58391	0.0:0.9254:0.0:0.0746	.	1041;1041;1041;1041;1041	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	576;1041;1041	ENSP00000358712:D576N;ENSP00000263054:D1041N;ENSP00000345964:D1041N	.	D	-	1	0	SORCS1	108356958	0.976000	0.34144	0.999000	0.59377	0.591000	0.36615	1.991000	0.40727	2.745000	0.94114	0.655000	0.94253	GAT		PASS	0.547	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		13	28	13	28	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108437114	108437114	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:108437114G>A	ENST00000263054.6	-	13	1796	c.1789C>T	c.(1789-1791)Ctg>Ttg	p.L597L	SORCS1_ENST00000344440.6_Silent_p.L597L|SORCS1_ENST00000369698.1_Silent_p.L132L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	597					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L597L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATAGCAACCAGGACTCCACCT	0.463																																						uc001kym.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1789-1791)CTG>TTG		SORCS receptor 1 isoform a							214.0	164.0	181.0					10																	108437114		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108437114G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1789C>T	10.37:g.108437114G>A						SORCS1_uc001kyl.2_Silent_p.L597L|SORCS1_uc009xxs.2_Silent_p.L597L|SORCS1_uc001kyn.1_Silent_p.L597L|SORCS1_uc001kyo.2_Silent_p.L597L	p.L597L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	13	1797	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	597			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.1789C>T	CCDS7559.1																																																																																				PASS	0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		19	27	19	27	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112337612	112337612	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:112337612C>T	ENST00000361804.4	+	6	416	c.290C>T	c.(289-291)tCa>tTa	p.S97L	snoU13_ENST00000458966.1_RNA|SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	97					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.S97L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAGGAAGTTTCACTTCGAAGA	0.294																																						uc001kze.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(289-291)TCA>TTA		structural maintenance of chromosomes 3							75.0	78.0	77.0					10																	112337612		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112337612C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.290C>T	10.37:g.112337612C>T	ENSP00000354720:p.Ser97Leu						p.S97L	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	6	416	+		Breast(234;0.0848)|Lung NSC(174;0.238)	97					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.290C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042619	0.55003	.	.	ENSG00000108055	ENST00000361804	T	0.68025	-0.3	5.67	5.67	0.87782	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.52905	1.665	0.80722	D	1	B	0.33413	0.411	B	0.36608	0.229	T	0.60301	-0.7290	10	0.12766	T	0.61	.	19.7627	0.96329	0.0:1.0:0.0:0.0	.	97	Q9UQE7	SMC3_HUMAN	L	97	ENSP00000354720:S97L	ENSP00000354720:S97L	S	+	2	0	SMC3	112327602	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.487000	0.81328	2.661000	0.90470	0.460000	0.39030	TCA		PASS	0.294	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		5	33	5	33	---	---	---	---
TECTB	6975	broad.mit.edu	37	10	114043501	114043501	+	Silent	SNP	G	G	A	rs139784993	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:114043501G>A	ENST00000369422.3	+	1	9	c.9G>A	c.(7-9)acG>acA	p.T3T		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	3						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T3T(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGGTGACGAAGGCCTTTG	0.507																																						uc001kzr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)ACG>ACA		tectorin beta precursor		G		0,4406		0,0,2203	115.0	101.0	106.0		9	2.3	1.0	10	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TECTB	NM_058222.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		3/330	114043501	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114043501G>A	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.9G>A	10.37:g.114043501G>A							p.T3T	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	1	9	+		Colorectal(252;0.198)	3					Q5VW53	Silent	SNP	ENST00000369422.3	37	c.9G>A	CCDS7571.1																																																																																				PASS	0.507	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		4	20	4	20	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115383302	115383302	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115383302C>T	ENST00000359988.3	-	23	2687	c.2443G>A	c.(2443-2445)Gac>Aac	p.D815N	NRAP_ENST00000369358.4_Missense_Mutation_p.D823N|NRAP_ENST00000360478.3_Missense_Mutation_p.D780N|NRAP_ENST00000369360.3_Missense_Mutation_p.D788N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D815N(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)		CTAGCCAGGtccctcttggct	0.517																																						uc001laj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2443-2445)GAC>AAC		nebulin-related anchoring protein isoform S							120.0	107.0	111.0					10																	115383302		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115383302C>T		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.2443G>A	10.37:g.115383302C>T	ENSP00000353078:p.Asp815Asn					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.D780N|NRAP_uc001lal.3_Missense_Mutation_p.D815N	p.D815N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	23	2607	-		Colorectal(252;0.0233)|Breast(234;0.188)	815			Nebulin 20.			Missense_Mutation	SNP	ENST00000359988.3	37	c.2443G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150877	0.78001	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.67517	2.055	0.51767	D	0.999932	B;B;B	0.30361	0.277;0.141;0.065	B;B;B	0.41946	0.371;0.197;0.145	T	0.50964	-0.8765	10	0.26408	T	0.33	.	19.7908	0.96456	0.0:1.0:0.0:0.0	.	815;780;815	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	N	823;788;815;780	ENSP00000358365:D823N;ENSP00000358367:D788N;ENSP00000353078:D815N;ENSP00000353666:D780N	ENSP00000353078:D815N	D	-	1	0	NRAP	115373292	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.500000	0.66943	2.780000	0.95670	0.655000	0.94253	GAC		PASS	0.517	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		26	26	26	26	---	---	---	---
CASP7	840	broad.mit.edu	37	10	115457308	115457308	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115457308A>G	ENST00000345633.4	+	3	440	c.56A>G	c.(55-57)gAa>gGa	p.E19G	CASP7_ENST00000369315.1_Missense_Mutation_p.E19G|CASP7_ENST00000369331.4_Missense_Mutation_p.E19G|CASP7_ENST00000369318.3_Missense_Mutation_p.E19G|CASP7_ENST00000369321.2_Missense_Mutation_p.E52G	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	19					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.E52G(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TCAGCAAATGAAGATTCAGTG	0.507																																						uc001lan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(55-57)GAA>GGA		caspase 7 isoform alpha							223.0	198.0	206.0					10																	115457308		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115457308A>G	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.56A>G	10.37:g.115457308A>G	ENSP00000298701:p.Glu19Gly					CASP7_uc001lam.2_Missense_Mutation_p.E19G|CASP7_uc001lao.2_Missense_Mutation_p.E52G|CASP7_uc001lap.2_Missense_Mutation_p.E19G|CASP7_uc001laq.2_Missense_Mutation_p.E19G|CASP7_uc010qsa.1_Missense_Mutation_p.K94E	p.E19G	NM_033339	NP_203125	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	2	230	+		Colorectal(252;0.0946)|Breast(234;0.188)	19					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.56A>G	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168701	0.21621	.	.	ENSG00000165806	ENST00000429617;ENST00000369331;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369319;ENST00000369316;ENST00000369315	T;T;T;T;T;T	0.08634	3.75;3.07;4.25;4.37;4.37;4.37	3.98	-2.3	0.06785	.	3.231730	0.00757	N	0.001117	T	0.06735	0.0172	L	0.27053	0.805	0.09310	N	1	B;B;B	0.16802	0.001;0.0;0.019	B;B;B	0.12156	0.002;0.0;0.007	T	0.35773	-0.9775	10	0.23302	T	0.38	.	7.2913	0.26368	0.3485:0.5525:0.099:0.0	.	52;19;19	P55210-3;P55210;P55210-2	.;CASP7_HUMAN;.	G	19;19;52;19;19;19;19;19;19	ENSP00000400094:E19G;ENSP00000358337:E19G;ENSP00000358327:E52G;ENSP00000298701:E19G;ENSP00000358324:E19G;ENSP00000358321:E19G	ENSP00000298701:E19G	E	+	2	0	CASP7	115447298	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.340000	0.02650	-0.573000	0.05998	0.455000	0.32223	GAA		PASS	0.507	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		39	74	39	74	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115529619	115529619	+	Missense_Mutation	SNP	C	C	T	rs267602367		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115529619C>T	ENST00000369310.3	+	6	1056	c.494C>T	c.(493-495)gCt>gTt	p.A165V	PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.A83V|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.A171V	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	165								p.A83V(1)|p.A171V(1)									ACATCAGAGGCTGTTGGCTCC	0.493																																						uc001lat.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(493-495)GCT>GTT		hypothetical protein LOC79949							119.0	113.0	115.0					10																	115529619		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529619C>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.494C>T	10.37:g.115529619C>T	ENSP00000358316:p.Ala165Val					C10orf81_uc001lar.1_Missense_Mutation_p.A171V|C10orf81_uc009xyc.1_Missense_Mutation_p.A83V|C10orf81_uc001las.1_Missense_Mutation_p.A83V|C10orf81_uc001lau.1_5'Flank	p.A165V	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	6	1056	+		Colorectal(252;0.175)	165					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.494C>T	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871489	0.33069	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.28255	1.62;1.62;1.62	5.65	-1.1	0.09872	.	0.865805	0.10069	N	0.719930	T	0.19087	0.0458	L	0.51422	1.61	0.09310	N	1	P;B;B	0.39022	0.655;0.228;0.4	B;B;B	0.31191	0.125;0.075;0.075	T	0.18241	-1.0343	10	0.49607	T	0.09	-19.729	2.0842	0.03642	0.1184:0.4019:0.2448:0.2348	.	165;165;171	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	V	171;83;165	ENSP00000354332:A171V;ENSP00000358318:A83V;ENSP00000358316:A165V	ENSP00000354332:A171V	A	+	2	0	C10orf81	115519609	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.066000	0.03454	0.056000	0.16144	-0.229000	0.12294	GCT		PASS	0.493	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		44	60	44	60	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115885742	115885742	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115885742G>A	ENST00000369287.3	-	15	2782	c.2516C>T	c.(2515-2517)cCa>cTa	p.P839L	C10orf118_ENST00000543782.1_Intron	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		839								p.P839L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTGTCAGCTGGATGGGATGT	0.383																																						uc001lbb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2515-2517)CCA>CTA		CTCL tumor antigen L14-2							118.0	113.0	115.0					10																	115885742		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115885742G>A																												ENST00000369287.3:c.2516C>T	10.37:g.115885742G>A	ENSP00000358293:p.Pro839Leu					C10orf118_uc009xyd.1_Intron|C10orf118_uc001lbc.1_Missense_Mutation_p.P839L|C10orf118_uc009xye.1_RNA	p.P839L	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	15	3168	-		Colorectal(252;0.172)|Breast(234;0.188)	839					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2516C>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649002	0.87958	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.25912	1.77	6.0	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.72894	2.215	0.80722	D	1	B	0.19583	0.037	B	0.19148	0.024	T	0.10200	-1.0640	10	0.72032	D	0.01	.	14.0227	0.64565	0.0708:0.0:0.9292:0.0	.	839	Q7Z3E2	CJ118_HUMAN	L	839;945	ENSP00000358293:P839L	ENSP00000358293:P839L	P	-	2	0	C10orf118	115875732	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.689000	0.74562	2.850000	0.98022	0.650000	0.86243	CCA		PASS	0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			15	25	15	25	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115947891	115947891	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115947891G>A	ENST00000369280.1	+	2	761	c.301G>A	c.(301-303)Gga>Aga	p.G101R	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.G101R|TDRD1_ENST00000369281.2_Missense_Mutation_p.G101R|TDRD1_ENST00000251864.2_Missense_Mutation_p.G101R			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	101					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.G101R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGCTCCAAAGGAGACAGGAA	0.413																																						uc001lbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGA>AGA		tudor domain containing 1							56.0	61.0	59.0					10																	115947891		2203	4299	6502	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947891G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.301G>A	10.37:g.115947891G>A	ENSP00000358286:p.Gly101Arg					TDRD1_uc001lbf.2_Missense_Mutation_p.G92R|TDRD1_uc001lbh.1_Missense_Mutation_p.G92R|TDRD1_uc001lbi.1_Missense_Mutation_p.G92R	p.G101R	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	2	454	+		Colorectal(252;0.172)|Breast(234;0.188)	101					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.301G>A		.	.	.	.	.	.	.	.	.	.	G	7.859	0.725581	0.15439	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.82	4.74	0.60224	.	0.741063	0.12137	N	0.496252	T	0.41050	0.1142	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.52842	0.926;0.926;0.956;0.956	P;P;P;P	0.51135	0.459;0.556;0.66;0.66	T	0.04900	-1.0919	10	0.39692	T	0.17	-8.1207	10.6676	0.45739	0.0998:0.0:0.9002:0.0	.	101;101;101;101	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	R	101	ENSP00000358288:G101R;ENSP00000251864:G101R;ENSP00000358287:G101R;ENSP00000358286:G101R	ENSP00000251864:G101R	G	+	1	0	TDRD1	115937881	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	3.058000	0.49939	2.755000	0.94549	0.563000	0.77884	GGA		PASS	0.413	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			34	37	34	37	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115947893	115947893	+	Silent	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:115947893A>T	ENST00000369280.1	+	2	763	c.303A>T	c.(301-303)ggA>ggT	p.G101G	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Silent_p.G101G|TDRD1_ENST00000369281.2_Silent_p.G101G|TDRD1_ENST00000251864.2_Silent_p.G101G			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	101					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.G101G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GCTCCAAAGGAGACAGGAAAA	0.418																																						uc001lbg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(301-303)GGA>GGT		tudor domain containing 1							54.0	59.0	57.0					10																	115947893		2203	4299	6502	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947893A>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.303A>T	10.37:g.115947893A>T						TDRD1_uc001lbf.2_Silent_p.G92G|TDRD1_uc001lbh.1_Silent_p.G92G|TDRD1_uc001lbi.1_Silent_p.G92G	p.G101G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	2	456	+		Colorectal(252;0.172)|Breast(234;0.188)	101					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.303A>T																																																																																					PASS	0.418	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			33	39	33	39	---	---	---	---
VWA2	340706	broad.mit.edu	37	10	116038536	116038536	+	Silent	SNP	C	C	T	rs145257901		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:116038536C>T	ENST00000392982.3	+	8	1009	c.759C>T	c.(757-759)ttC>ttT	p.F253F	VWA2_ENST00000603594.1_Silent_p.F253F			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	253					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.F253F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TCCGGGAGTTCGCTGGCAATG	0.647													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20551	0.0		0.0	False		,,,				2504	0.0					uc001lbl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(757-759)TTC>TTT		von Willebrand factor A domain containing 2		C		0,4406		0,0,2203	134.0	102.0	113.0		759	-0.9	0.0	10	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	VWA2	NM_198496.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		253/726	116038536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116038536C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.759C>T	10.37:g.116038536C>T						VWA2_uc001lbk.1_Silent_p.F253F|VWA2_uc009xyf.1_5'UTR	p.F253F	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	8	1080	+			253					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.759C>T																																																																																					PASS	0.647	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		17	24	17	24	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117061501	117061501	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:117061501C>T	ENST00000355044.3	+	17	2892	c.2766C>T	c.(2764-2766)atC>atT	p.I922I	ATRNL1_ENST00000423111.2_Silent_p.I19I|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	922	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.I922I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGCCTATATCATCTCTTTTC	0.428																																						uc001lcg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2764-2766)ATC>ATT		attractin-like 1 precursor							265.0	205.0	226.0					10																	117061501		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117061501C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2766C>T	10.37:g.117061501C>T						ATRNL1_uc010qsm.1_Silent_p.I97I|ATRNL1_uc010qsn.1_RNA	p.I922I	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	3152	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	922			PSI 4.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2766C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	9.693	1.152332	0.21371	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.71151	0.3306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80185	-0.1487	4	.	.	.	-17.1006	22.2474	0.99969	0.1269:0.8036:0.0:0.0695	.	.	.	.	Y	52	.	.	H	+	1	0	ATRNL1	117051491	0.068000	0.21057	0.212000	0.23672	0.975000	0.68041	-0.578000	0.05841	-2.533000	0.00490	-0.282000	0.10007	CAT		PASS	0.428	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		27	29	27	29	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118306827	118306827	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:118306827G>A	ENST00000369221.2	+	3	96	c.68G>A	c.(67-69)aGa>aAa	p.R23K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	23					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R23K(4)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGCTACGAAAGACTCGGCTGC	0.428																																						uc001lcm.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(67-69)AGA>AAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						93.0	91.0	92.0					10																	118306827		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306827G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.68G>A	10.37:g.118306827G>A	ENSP00000358223:p.Arg23Lys						p.R23K	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	111	+			23					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.68G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	8.499	0.863798	0.17250	.	.	ENSG00000175535	ENST00000369221	D	0.90955	-2.76	5.12	4.2	0.49525	Lipase, N-terminal (1);	0.070786	0.56097	N	0.000024	D	0.82825	0.5121	L	0.33624	1.015	0.37642	D	0.922068	B	0.09022	0.002	B	0.10450	0.005	T	0.75706	-0.3224	10	0.07325	T	0.83	.	11.7563	0.51878	0.0877:0.0:0.9123:0.0	.	23	P16233	LIPP_HUMAN	K	23	ENSP00000358223:R23K	ENSP00000358223:R23K	R	+	2	0	PNLIP	118296817	0.699000	0.27786	0.778000	0.31720	0.447000	0.32167	3.232000	0.51302	1.369000	0.46134	0.591000	0.81541	AGA		PASS	0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		13	49	13	49	---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118318691	118318691	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:118318691G>A	ENST00000369221.2	+	10	984	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	319					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.G319E(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGTCCAAGTGGAGGCTGCCCA	0.408																																						uc001lcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(955-957)GGA>GAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						102.0	90.0	94.0					10																	118318691		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118318691G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.956G>A	10.37:g.118318691G>A	ENSP00000358223:p.Gly319Glu						p.G319E	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	10	999	+			319					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.956G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	2.115	-0.402702	0.04865	.	.	ENSG00000175535	ENST00000369221	D	0.89617	-2.54	6.05	0.61	0.17580	Lipase, N-terminal (1);	.	.	.	.	T	0.75049	0.3797	N	0.13168	0.305	0.34416	D	0.696955	B	0.09022	0.002	B	0.04013	0.001	T	0.63989	-0.6512	9	0.06625	T	0.88	.	10.7705	0.46319	0.4047:0.0:0.5953:0.0	.	319	P16233	LIPP_HUMAN	E	319	ENSP00000358223:G319E	ENSP00000358223:G319E	G	+	2	0	PNLIP	118308681	0.871000	0.30034	0.560000	0.28344	0.996000	0.88848	-0.088000	0.11198	-0.003000	0.14444	0.650000	0.86243	GGA		PASS	0.408	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		12	23	12	23	---	---	---	---
PDZD8	118987	broad.mit.edu	37	10	119044399	119044399	+	Silent	SNP	G	G	A	rs370368412		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:119044399G>A	ENST00000334464.5	-	5	2084	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	615	Pro-rich.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L615L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCTTTTCAACGAGAACATCTG	0.498																																						uc001lde.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1843-1845)CTC>CTT		PDZ domain containing 8		G		0,4406		0,0,2203	118.0	117.0	117.0		1845	-3.7	0.0	10		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDZD8	NM_173791.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		615/1155	119044399	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119044399G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1845C>T	10.37:g.119044399G>A							p.L615L	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2044	-		Colorectal(252;0.19)	615			Pro-rich.		Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.1845C>T	CCDS7600.1																																																																																				PASS	0.498	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		23	54	23	54	---	---	---	---
PRDX3	10935	broad.mit.edu	37	10	120933973	120933973	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:120933973G>A	ENST00000298510.2	-	3	343	c.301C>T	c.(301-303)Cct>Tct	p.P101S	PRDX3_ENST00000356951.3_Missense_Mutation_p.P83S	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	101	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)	p.P101S(1)		endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		AAATCCAAAGGATAGAAGAAA	0.408																																					Pancreas(36;562 1096 2447 42526)	uc001lec.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)CCT>TCT		peroxiredoxin 3 isoform a precursor							85.0	79.0	81.0					10																	120933973		2203	4300	6503	SO:0001583	missense	10935				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding	g.chr10:120933973G>A	D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.301C>T	10.37:g.120933973G>A	ENSP00000298510:p.Pro101Ser						p.P101S	NM_006793	NP_006784	P30048	PRDX3_HUMAN		all cancers(201;0.0245)	3	344	-		Lung NSC(174;0.094)|all_lung(145;0.123)	101			Thioredoxin.		B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	ENST00000298510.2	37	c.301C>T	CCDS7611.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844360	0.91197	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.56444	0.46;0.46	4.89	4.89	0.63831	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91291	0.5059	10	0.87932	D	0	-18.5018	18.4371	0.90650	0.0:0.0:1.0:0.0	.	101	P30048	PRDX3_HUMAN	S	83;101	ENSP00000349432:P83S;ENSP00000298510:P101S	ENSP00000298510:P101S	P	-	1	0	PRDX3	120923963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.765000	0.98953	2.415000	0.81967	0.655000	0.94253	CCT		PASS	0.408	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050639.1	NM_006793		16	32	16	32	---	---	---	---
GRK5	2869	broad.mit.edu	37	10	121182680	121182680	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:121182680C>T	ENST00000392870.2	+	5	671	c.342C>T	c.(340-342)tcC>tcT	p.S114S	GRK5_ENST00000369108.3_Silent_p.S9S	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	114	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.S114S(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTCCAGTCCCCTGTTTTCA	0.582																																						uc001led.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)	3						c.(340-342)TCC>TCT		G protein-coupled receptor kinase 5							244.0	248.0	247.0					10																	121182680		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121182680C>T	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.342C>T	10.37:g.121182680C>T						GRK5_uc009xzh.2_Silent_p.S9S|GRK5_uc010qta.1_Silent_p.S9S	p.S114S	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	5	575	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	114			N-terminal.|RGS.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.342C>T	CCDS7612.1																																																																																				PASS	0.582	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		33	150	33	150	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124339165	124339165	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:124339165T>A	ENST00000338354.3	+	10	857	c.751T>A	c.(751-753)Tac>Aac	p.Y251N	DMBT1_ENST00000368909.3_Missense_Mutation_p.Y251N|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y251N|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y251N|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y251N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y251N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	251	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.Y251N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAGGTCCTATACCGAGGCTC	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)	7						c.(751-753)TAC>AAC		deleted in malignant brain tumors 1 isoform b							289.0	282.0	284.0					10																	124339165		2007	4179	6186	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339165T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.751T>A	10.37:g.124339165T>A	ENSP00000342210:p.Tyr251Asn					DMBT1_uc001lgl.1_Missense_Mutation_p.Y251N|DMBT1_uc001lgm.1_Missense_Mutation_p.Y251N|DMBT1_uc009xzz.1_Missense_Mutation_p.Y251N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.Y103N	p.Y251N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	857	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	251			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.751T>A		.	.	.	.	.	.	.	.	.	.	T	13.83	2.354864	0.41700	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	4.07	2.92	0.33932	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.53498	0.1800	M	0.89214	3.015	0.50467	D	0.999872	P;D;P;D;D	0.89917	0.919;1.0;0.832;0.999;1.0	P;D;B;D;D	0.91635	0.622;0.999;0.39;0.984;0.999	T	0.50508	-0.8820	9	0.45353	T	0.12	.	3.8189	0.08827	0.1524:0.2584:0.0:0.5891	.	251;251;251;251;251	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	N	251	ENSP00000342210:Y251N;ENSP00000343175:Y251N;ENSP00000327747:Y251N;ENSP00000357905:Y251N;ENSP00000357951:Y251N;ENSP00000357952:Y251N	ENSP00000331522:Y251N	Y	+	1	0	DMBT1	124329155	0.015000	0.18098	0.930000	0.37139	0.601000	0.36947	0.319000	0.19522	0.565000	0.29255	0.438000	0.28831	TAC		PASS	0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		94	179	94	179	---	---	---	---
FAM24A	118670	broad.mit.edu	37	10	124671195	124671195	+	Missense_Mutation	SNP	C	C	G	rs377103029		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:124671195C>G	ENST00000368894.1	+	2	166	c.45C>G	c.(43-45)atC>atG	p.I15M		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	15						extracellular region (GO:0005576)		p.I15M(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TGATCGGCATCGGAAGCAGCT	0.498																																						uc001lgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(43-45)ATC>ATG		family with sequence similarity 24, member A							416.0	362.0	380.0					10																	124671195		2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671195C>G		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.45C>G	10.37:g.124671195C>G	ENSP00000357889:p.Ile15Met						p.I15M	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	166	+		all_neural(114;0.169)|Glioma(114;0.222)	15						Missense_Mutation	SNP	ENST00000368894.1	37	c.45C>G	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143383	0.37825	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.61	-2.79	0.05841	.	0.200884	0.24583	N	0.037289	T	0.46092	0.1375	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.44375	-0.9332	9	0.87932	D	0	.	9.3479	0.38120	0.0:0.6061:0.0:0.3939	.	15	A6NFZ4	FA24A_HUMAN	M	15	.	ENSP00000357889:I15M	I	+	3	3	FAM24A	124661185	0.000000	0.05858	0.001000	0.08648	0.337000	0.28794	-1.744000	0.01832	-0.565000	0.06061	-0.487000	0.04747	ATC		PASS	0.498	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332		73	133	73	133	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125516831	125516831	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:125516831G>A	ENST00000241305.3	-	12	1969	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	605					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.F605F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGGACAGTTCGAAGCAGTTTG	0.498																																						uc001lhk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1813-1815)TTC>TTT		carboxypeptidase X (M14 family), member 2							146.0	124.0	132.0					10																	125516831		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125516831G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1815C>T	10.37:g.125516831G>A						CPXM2_uc001lhj.2_RNA	p.F605F	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	12	2140	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	605					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1815C>T	CCDS7637.1																																																																																				PASS	0.498	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		42	39	42	39	---	---	---	---
UROS	7390	broad.mit.edu	37	10	127503624	127503624	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:127503624C>T	ENST00000368797.4	-	4	447	c.223G>A	c.(223-225)Gag>Aag	p.E75K	UROS_ENST00000368774.1_Missense_Mutation_p.E75K|UROS_ENST00000368778.3_Missense_Mutation_p.E75K|UROS_ENST00000368786.1_Missense_Mutation_p.E75K	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	75					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)	p.E75K(1)		endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTGTTTTGCTCCAAACATAAC	0.443																																						uc001liw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAG>AAG		uroporphyrinogen III synthase							100.0	104.0	103.0					10																	127503624		2203	4300	6503	SO:0001583	missense	7390				heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity	g.chr10:127503624C>T	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.223G>A	10.37:g.127503624C>T	ENSP00000357787:p.Glu75Lys					UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E75K|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA	p.E75K	NM_000375	NP_000366	P10746	HEM4_HUMAN			3	356	-		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)	75					B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	ENST00000368797.4	37	c.223G>A	CCDS7648.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957223	0.34565	.	.	ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761;ENST00000368778;ENST00000368774	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	5.43	2.59	0.31030	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);	0.347525	0.32952	N	0.005458	D	0.84723	0.5535	L	0.32530	0.975	0.45108	D	0.998129	B	0.16166	0.016	B	0.19148	0.024	T	0.74595	-0.3613	10	0.30854	T	0.27	-7.8264	6.7956	0.23722	0.0:0.6977:0.1447:0.1576	.	75	P10746	HEM4_HUMAN	K	75;75;47;75;75	ENSP00000357787:E75K;ENSP00000357775:E75K;ENSP00000414833:E47K;ENSP00000357767:E75K;ENSP00000357763:E75K	ENSP00000357763:E75K	E	-	1	0	UROS	127493614	0.672000	0.27530	0.947000	0.38551	0.247000	0.25773	0.969000	0.29370	0.421000	0.25980	0.655000	0.94253	GAG		PASS	0.443	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050929.1	NM_000375		16	14	16	14	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128114446	128114446	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:128114446C>T	ENST00000284694.7	-	9	2207	c.2087G>A	c.(2086-2088)aGg>aAg	p.R696K	C10orf90_ENST00000454341.1_Missense_Mutation_p.R599K|C10orf90_ENST00000544758.1_Missense_Mutation_p.R793K|C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000480379.1_Missense_Mutation_p.R100K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	696	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R696K(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GACCGCATTCCTTTGAAGGAG	0.488																																						uc001ljq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2086-2088)AGG>AAG		hypothetical protein LOC118611							112.0	104.0	107.0					10																	128114446		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128114446C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2087G>A	10.37:g.128114446C>T	ENSP00000284694:p.Arg696Lys					C10orf90_uc001ljp.2_Missense_Mutation_p.R552K|C10orf90_uc010qum.1_Missense_Mutation_p.R793K|C10orf90_uc001ljo.2_RNA	p.R696K	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	9	2208	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	696					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.2087G>A	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.317094|4.317094	0.81469|0.81469	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000424927|ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758	.|T;T;T	.|0.36157	.|1.27;1.44;1.38	5.58|5.58	4.68|4.68	0.58851|0.58851	.|.	.|0.000000	.|0.49305	.|D	.|0.000152	T|T	0.38321|0.38321	0.1036|0.1036	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50617	.|0.513;0.937;0.513	.|B;B;B	.|0.43274	.|0.191;0.414;0.191	T|T	0.35325|0.35325	-0.9793|-0.9793	5|10	.|0.54805	.|T	.|0.06	-29.1875|-29.1875	12.3506|12.3506	0.55146|0.55146	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	.|793;696;599	.|F5GZL2;Q96M02;Q96M02-2	.|.;CJ090_HUMAN;.	R|K	239|649;696;599;793	.|ENSP00000284694:R696K;ENSP00000398786:R599K;ENSP00000444369:R793K	.|ENSP00000284694:R696K	G|R	-|-	1|2	0|0	C10orf90|C10orf90	128104436|128104436	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.902000|0.902000	0.53008|0.53008	4.682000|4.682000	0.61671|0.61671	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	GGA|AGG		PASS	0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		13	29	13	29	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128193239	128193239	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:128193239G>A	ENST00000284694.7	-	3	650	c.530C>T	c.(529-531)cCc>cTc	p.P177L	C10orf90_ENST00000454341.1_Missense_Mutation_p.P177L|C10orf90_ENST00000544758.1_Missense_Mutation_p.P274L|C10orf90_ENST00000392694.1_Missense_Mutation_p.P130L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.P130L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	177	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.P177L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGAGCCGGGGGCGCCTGGAA	0.667											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ljq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(529-531)CCC>CTC		hypothetical protein LOC118611							46.0	54.0	51.0					10																	128193239		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193239G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.530C>T	10.37:g.128193239G>A	ENSP00000284694:p.Pro177Leu		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.P130L|C10orf90_uc010qum.1_Missense_Mutation_p.P274L|C10orf90_uc009yao.2_Missense_Mutation_p.P274L|C10orf90_uc001ljs.1_Missense_Mutation_p.P130L	p.P177L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	651	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	177					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.530C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917721	0.52546	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.27557	1.99;1.97;2.02;1.99;1.66	4.8	1.84	0.25277	.	0.000000	0.42548	D	0.000695	T	0.27419	0.0673	M	0.61703	1.905	0.09310	N	0.999998	B;P;P;B;B	0.44380	0.368;0.834;0.765;0.368;0.368	B;B;B;B;B	0.41666	0.15;0.363;0.346;0.15;0.15	T	0.20505	-1.0273	10	0.87932	D	0	-8.3484	4.9112	0.13823	0.0867:0.1463:0.6169:0.1501	.	274;274;130;177;177	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	130;177;177;274;177;130;130	ENSP00000284694:P177L;ENSP00000398786:P177L;ENSP00000444369:P274L;ENSP00000405995:P177L;ENSP00000376459:P130L	ENSP00000284694:P177L	P	-	2	0	C10orf90	128183229	0.022000	0.18835	0.003000	0.11579	0.003000	0.03518	1.497000	0.35649	1.241000	0.43820	0.655000	0.94253	CCC		PASS	0.667	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		11	34	11	34	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128974270	128974270	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:128974270G>A	ENST00000522781.1	-	4	945	c.390C>T	c.(388-390)ctC>ctT	p.L130L	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.L130L	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	130								p.L130L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGCAGCTGGGAGGCTTTTGA	0.552																																						uc001lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(388-390)CTC>CTT		hypothetical protein LOC642938							109.0	104.0	106.0					10																	128974270		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128974270G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.390C>T	10.37:g.128974270G>A						DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.L130L|FAM196A_uc001ljv.1_Silent_p.L130L|FAM196A_uc009yap.1_Silent_p.L130L	p.L130L	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	431	-			130					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.390C>T	CCDS31312.1																																																																																				PASS	0.552	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		14	28	14	28	---	---	---	---
MGMT	4255	broad.mit.edu	37	10	131506293	131506293	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:131506293C>T	ENST00000306010.7	+	3	385	c.353C>T	c.(352-354)cCc>cTc	p.P118L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	87					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.P87L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CTTCACCATCCCGTTTTCCAG	0.532								Direct reversal of damage																														uc001lkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(352-354)CCC>CTC	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							115.0	111.0	112.0					10																	131506293		2203	4300	6503	SO:0001583	missense	4255							g.chr10:131506293C>T	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.353C>T	10.37:g.131506293C>T	ENSP00000302111:p.Pro118Leu						p.P118L	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	3	379	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	87					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.353C>T	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369808	0.82573	.	.	ENSG00000170430	ENST00000306010	T	0.63096	-0.02	4.79	4.79	0.61399	.	0.063237	0.64402	D	0.000005	T	0.78978	0.4369	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.82030	-0.0659	10	0.87932	D	0	.	18.4147	0.90565	0.0:1.0:0.0:0.0	.	118	B4DEE8	.	L	118	ENSP00000302111:P118L	ENSP00000302111:P118L	P	+	2	0	MGMT	131396283	1.000000	0.71417	0.811000	0.32455	0.057000	0.15508	6.453000	0.73488	2.664000	0.90586	0.655000	0.94253	CCC		PASS	0.532	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		24	39	24	39	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	133107540	133107541	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:133107540_133107541GG>TA	ENST00000368642.4	-	2	449_450	c.364_365CC>TA	c.(364-366)CCg>TAg	p.P122*		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	122								p.P81Q(2)|p.P81S(1)|p.P81*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCTAGGGACGGAGAATGGCCA	0.525																																						uc001lkp.2																			4	Substitution - Missense(3)|Substitution - Nonsense(1)	p.P81Q(1)|	lung(3)|large_intestine(1)	large_intestine(2)|ovary(2)	4						c.(364-366)CCG>CAG|c.(364-366)CCG>TCG		transcription elongation regulator 1-like																																				SO:0001587	stop_gained	256536							g.chr10:133107540G>T|g.chr10:133107541G>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.364_365delinsTA	10.37:g.133107540_133107541delinsTA	ENSP00000357631:p.Pro122*						p.P122Q|p.P122S	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	2	451|450	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	122					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.365C>A|c.364C>T	CCDS7662.2																																																																																				PASS	0.525	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		13|12	25	12	25	---	---	---	---
PPP2R2D	55844	broad.mit.edu	37	10	133769400	133769400	+	3'UTR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:133769400C>T	ENST00000422256.2	+	0	1095							Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P205L(1)|p.P401L(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GCCTGGCACCCCGTGGACAAT	0.522																																						uc001lks.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1195-1197)CCC>CTC		protein phosphatase 2, regulatory subunit B,							47.0	53.0	51.0					10																	133769400		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769400C>T	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.*202C>T	10.37:g.133769400C>T						PPP2R2D_uc001lkr.2_Missense_Mutation_p.P205L|PPP2R2D_uc001lkt.2_Missense_Mutation_p.P205L|PPP2R2D_uc009yay.2_Missense_Mutation_p.P267L	p.P399L	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	7	1439	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	432			WD 7.		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.1196C>T		.	.	.	.	.	.	.	.	.	.	C	15.82	2.946607	0.53186	.	.	ENSG00000175470	ENST00000455566	T	0.39997	1.05	3.77	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66697	-0.5858	9	0.87932	D	0	-24.8388	11.5823	0.50898	0.0:0.9121:0.0:0.0879	.	432	Q66LE6	2ABD_HUMAN	L	401	ENSP00000399970:P401L	ENSP00000399970:P401L	P	+	2	0	PPP2R2D	133619390	1.000000	0.71417	0.754000	0.31244	0.211000	0.24417	4.944000	0.63561	0.941000	0.37499	0.561000	0.74099	CCC		PASS	0.522	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		5	9	5	9	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133930772	133930772	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:133930772G>A	ENST00000298622.4	+	2	465	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	109						Golgi apparatus (GO:0005794)		p.K109K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCAAGATCAAGGACAACGAGA	0.607																																						uc001lkx.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(325-327)AAG>AAA		Janus kinase and microtubule interacting protein							59.0	73.0	68.0					10																	133930772		2187	4278	6465	SO:0001819	synonymous_variant	282973							g.chr10:133930772G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.327G>A	10.37:g.133930772G>A							p.K109K	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	327	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.327G>A	CCDS44494.1																																																																																				PASS	0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		7	33	7	33	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134006186	134006186	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:134006186C>T	ENST00000338492.4	+	3	317	c.153C>T	c.(151-153)gtC>gtT	p.V51V	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_5'Flank|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	51					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.V51V(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCTCATCGTCCCTGGGGGCA	0.577																																						uc009ybb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(151-153)GTC>GTT		dihydropyrimidinase-like 4							97.0	86.0	90.0					10																	134006186		2203	4299	6502	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006186C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.153C>T	10.37:g.134006186C>T							p.V51V	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	307	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	51					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.153C>T	CCDS7665.1																																																																																				PASS	0.577	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			11	41	11	41	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134743005	134743005	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:134743005G>T	ENST00000368585.3	-	9	1508	c.1170C>A	c.(1168-1170)ctC>ctA	p.L390L	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron														p.L332L(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						gaaaggtaaagagaaacgggc	0.478																																						uc001llt.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1168-1170)CTC>CTA		hypothetical protein LOC255352							61.0	53.0	56.0					10																	134743005		2201	4299	6500	SO:0001819	synonymous_variant	255352						binding	g.chr10:134743005G>T																												ENST00000368585.3:c.1170C>A	10.37:g.134743005G>T							p.L390L	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)	9	1246	-		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)	Error:Variant_position_missing_in_Q5SR76_after_alignment						Silent	SNP	ENST00000368585.3	37	c.1170C>A																																																																																					PASS	0.478	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			4	21	4	21	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135000137	135000137	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:135000137C>T	ENST00000304613.3	+	6	1306	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	KNDC1_ENST00000368571.2_Missense_Mutation_p.P364S|KNDC1_ENST00000368572.2_Missense_Mutation_p.P429S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	429					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.P429S(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGAGAGAATTCCAGAAGGAGC	0.662																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1285-1287)CCA>TCA		kinase non-catalytic C-lobe domain (KIND)							29.0	35.0	33.0					10																	135000137		2201	4298	6499	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135000137C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1285C>T	10.37:g.135000137C>T	ENSP00000304437:p.Pro429Ser					KNDC1_uc001lma.1_Missense_Mutation_p.P364S	p.P429S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1286	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	429					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1285C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	c	9.824	1.186523	0.21870	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.27890	1.64;1.64;1.64	3.54	-1.18	0.09617	.	0.921974	0.08959	N	0.868941	T	0.16428	0.0395	L	0.36672	1.1	0.09310	N	1	B;B	0.33694	0.0;0.421	B;B	0.24006	0.002;0.05	T	0.19128	-1.0315	10	0.30854	T	0.27	0.344	2.456	0.04530	0.1748:0.3354:0.3756:0.1142	.	364;429	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	S	429;429;364	ENSP00000304437:P429S;ENSP00000357561:P429S;ENSP00000357560:P364S	ENSP00000304437:P429S	P	+	1	0	KNDC1	134850127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.238000	0.08977	-0.023000	0.13963	-0.232000	0.12228	CCA		PASS	0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		4	22	4	22	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135099073	135099073	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:135099073G>A	ENST00000252936.3	-	11	1821	c.1782C>T	c.(1780-1782)acC>acT	p.T594T	TUBGCP2_ENST00000368563.2_Silent_p.T594T|TUBGCP2_ENST00000543663.1_Silent_p.T622T|TUBGCP2_ENST00000368562.1_Silent_p.T187T|TUBGCP2_ENST00000417178.2_Silent_p.T464T			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	594					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.T594T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCTCCTGCTTGGTCTCGATGG	0.587																																						uc001lmg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1780-1782)ACC>ACT		tubulin, gamma complex associated protein 2							45.0	43.0	44.0					10																	135099073		2202	4299	6501	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135099073G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1782C>T	10.37:g.135099073G>A						TUBGCP2_uc001lmf.1_Silent_p.T187T|TUBGCP2_uc010qvc.1_Silent_p.T622T|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Silent_p.T464T|TUBGCP2_uc001lmh.1_RNA	p.T594T	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	12	2139	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	594					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1782C>T	CCDS7676.1																																																																																				PASS	0.587	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			4	11	4	11	---	---	---	---
PAOX	196743	broad.mit.edu	37	10	135197503	135197503	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr10:135197503C>T	ENST00000278060.5	+	4	991	c.908C>T	c.(907-909)cCc>cTc	p.P303L	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.P303L|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	441					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.P303L(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TTTGACCCTCCCCTGCCGGCT	0.498																																						uc001lmv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(907-909)CCC>CTC		polyamine oxidase isoform 1							135.0	149.0	144.0					10																	135197503		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197503C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.908C>T	10.37:g.135197503C>T	ENSP00000278060:p.Pro303Leu					PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.P303L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	p.P303L	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	988	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	441					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.908C>T	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657210	0.47467	.	.	ENSG00000148832	ENST00000278060;ENST00000357296	D;D	0.93906	-3.31;-3.31	5.19	4.24	0.50183	.	0.108802	0.64402	D	0.000006	D	0.95608	0.8572	M	0.78637	2.42	0.80722	D	1	P;D	0.63880	0.753;0.993	P;D	0.62955	0.511;0.909	D	0.94681	0.7865	10	0.45353	T	0.12	-20.6704	12.9738	0.58527	0.1617:0.8383:0.0:0.0	.	303;303	Q6QHF9-4;Q6QHF9-2	.;.	L	303	ENSP00000278060:P303L;ENSP00000349847:P303L	ENSP00000278060:P303L	P	+	2	0	PAOX	135047493	0.029000	0.19370	0.269000	0.24586	0.403000	0.30841	2.647000	0.46639	2.694000	0.91930	0.558000	0.71614	CCC		PASS	0.498	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		47	87	47	87	---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	293670	293670	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:293670G>A	ENST00000409548.2	+	10	1672	c.1557G>A	c.(1555-1557)agG>agA	p.R519R	ATHL1_ENST00000409479.1_Silent_p.R546R|ATHL1_ENST00000409655.1_Splice_Site_p.R271R	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	519					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.R342R(1)|p.R519R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGTTCGCAGGAAAAATCTGG	0.617																																						uc010qvu.1																			2	Substitution - coding silent(2)		lung(2)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(1555-1557)AGG>AGA		ATH1, acid trehalase-like 1							80.0	90.0	87.0					11																	293670		2203	4300	6503	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:293670G>A	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1557G>A	11.37:g.293670G>A						ATHL1_uc001lor.3_Silent_p.R271R|ATHL1_uc001lou.3_Silent_p.R94R|ATHL1_uc001lov.3_5'Flank	p.R519R	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	1672	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	519					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.1557G>A	CCDS31322.2																																																																																				PASS	0.617	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		18	24	18	24	---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	688419	688420	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:688419_688420GG>AA	ENST00000382409.3	-	3	912_913	c.428_429CC>TT	c.(427-429)aCC>aTT	p.T143I	DEAF1_ENST00000338675.6_Missense_Mutation_p.T143I	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	143					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T143I(2)|p.T143T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TCGCTTTTTCGGTGTTCAGGCT	0.604																																						uc001lqq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(427-429)ACC>ACT|c.(427-429)ACC>ATC		deformed epidermal autoregulatory factor 1																																				SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688419G>A|g.chr11:688420G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.428_429delinsAA	11.37:g.688419_688420delinsAA	ENSP00000371846:p.Thr143Ile					DEAF1_uc009ycf.1_5'Flank	p.T143T|p.T143I	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	3	1122|1121	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	143					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent|Missense_Mutation	SNP	ENST00000382409.3	37	c.429C>T|c.428C>T	CCDS31327.1																																																																																				PASS	0.604	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		10	21	10	21	---	---	---	---
PDDC1	347862	broad.mit.edu	37	11	772466	772466	+	Missense_Mutation	SNP	C	C	A	rs199513426		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:772466C>A	ENST00000319863.8	-	5	432	c.411G>T	c.(409-411)gaG>gaT	p.E137D	PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Missense_Mutation_p.E101D|PDDC1_ENST00000526325.1_Missense_Mutation_p.E137D|PDDC1_ENST00000397472.2_Missense_Mutation_p.E137D|PDDC1_ENST00000442059.2_Missense_Mutation_p.E87D	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	137						extracellular vesicular exosome (GO:0070062)		p.E137D(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGATCTGTCCTCGTTGGTGG	0.662																																						uc001lrc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GAG>GAT		Parkinson disease 7 domain containing 1							165.0	145.0	152.0					11																	772466		2203	4300	6503	SO:0001583	missense	347862					extracellular region		g.chr11:772466C>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.411G>T	11.37:g.772466C>A	ENSP00000321691:p.Glu137Asp					PDDC1_uc010qwm.1_Missense_Mutation_p.E87D|PDDC1_uc001lrd.2_Missense_Mutation_p.E137D|PDDC1_uc001lrf.1_Missense_Mutation_p.E101D|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.E87D|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.E101D|PDDC1_uc010qwq.1_Missense_Mutation_p.E51D|PDDC1_uc010qwr.1_Missense_Mutation_p.E137D|PDDC1_uc010qws.1_Missense_Mutation_p.E87D	p.E137D	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	436	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	137					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Missense_Mutation	SNP	ENST00000319863.8	37	c.411G>T	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	-	15.55	2.867690	0.51588	.	.	ENSG00000177225	ENST00000528309;ENST00000397472;ENST00000319863;ENST00000526650;ENST00000526325;ENST00000442059;ENST00000524550	T;T	0.77098	-1.07;-1.07	4.26	2.3	0.28687	ThiJ/PfpI (1);	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	N	0.17674	0.51	0.42167	D	0.991626	P;B;D;B;B	0.58620	0.94;0.009;0.983;0.175;0.005	P;B;P;B;B	0.55391	0.62;0.015;0.775;0.054;0.018	T	0.62826	-0.6772	10	0.15499	T	0.54	-33.5181	8.4202	0.32696	0.0:0.7937:0.0:0.2063	.	101;87;101;137;137	B7ZKW3;B7Z1J9;Q8NB37-4;Q8NB37-2;Q8NB37	.;.;.;.;PDDC1_HUMAN	D	75;137;137;61;137;87;101	ENSP00000321691:E137D;ENSP00000397890:E87D	ENSP00000321691:E137D	E	-	3	2	PDDC1	762466	0.999000	0.42202	0.999000	0.59377	0.974000	0.67602	0.583000	0.23849	0.890000	0.36211	0.556000	0.70494	GAG		PASS	0.662	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		5	74	5	74	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1025323	1025323	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1025323C>T	ENST00000421673.2	-	23	2894	c.2844G>A	c.(2842-2844)ggG>ggA	p.G948G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	948	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.G948G(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGCTCCTCCCCGGTGACCG	0.662																																						uc001lsw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2842-2844)GGG>GGA		mucin 6, gastric							56.0	65.0	62.0					11																	1025323		2085	4205	6290	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025323C>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2844G>A	11.37:g.1025323C>T							p.G948G	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	2895	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	948			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.2844G>A	CCDS44513.1																																																																																				PASS	0.662	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		7	35	7	35	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1262555	1262555	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1262555C>T	ENST00000529681.1	+	31	4503	c.4445C>T	c.(4444-4446)tCg>tTg	p.S1482L	MUC5B_ENST00000447027.1_Missense_Mutation_p.S1485L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1482	7 X Cys-rich subdomain repeats.|Thr-rich.				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.S1485L(1)|p.S1482L(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)		GCCCTCACCTCGCAGACTGGG	0.662																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(6523-6525)TCG>TTG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							43.0	53.0	49.0					11																	1262555		2054	4166	6220	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262555C>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.4445C>T	11.37:g.1262555C>T	ENSP00000436812:p.Ser1482Leu					MUC5B_uc001ltb.2_Missense_Mutation_p.S1485L	p.S2175L	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)	47	6650	+		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)	1482			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6524C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	12.00	1.805480	0.31961	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17691	2.26;2.44	4.84	1.85	0.25348	.	.	.	.	.	T	0.06917	0.0176	N	0.19112	0.55	0.09310	N	1	P;P	0.50066	0.931;0.84	B;B	0.31101	0.121;0.124	T	0.32348	-0.9910	9	0.87932	D	0	.	2.4005	0.04400	0.2194:0.4973:0.1242:0.1592	.	2175;1485	A7Y9J9;E9PBJ0	.;.	L	1482;1485;1483;1552	ENSP00000436812:S1482L;ENSP00000415793:S1485L	ENSP00000343037:S1483L	S	+	2	0	MUC5B	1219131	.	.	0.000000	0.03702	0.139000	0.21198	.	.	0.089000	0.17243	0.197000	0.17608	TCG		PASS	0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	6	4	6	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267841	1267841	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1267841C>G	ENST00000529681.1	+	31	9789	c.9731C>G	c.(9730-9732)tCc>tGc	p.S3244C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3247C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3244	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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.S3244C(1)|p.S3223C(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)		CCCTCTTCCTCCCTGGGCACC	0.632																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(11479-11481)TCC>TGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							191.0	236.0	221.0					11																	1267841		2169	4250	6419	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267841C>G	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.9731C>G	11.37:g.1267841C>G	ENSP00000436812:p.Ser3244Cys					MUC5B_uc001ltb.2_Missense_Mutation_p.S3247C	p.S3827C	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)	49	11606	+		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)	3244	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11480C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	3.867	-0.028693	0.07589	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21191	2.02;2.2	2.36	1.37	0.22104	.	.	.	.	.	T	0.12561	0.0305	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.14023	0.01;0.01	T	0.27434	-1.0074	9	0.87932	D	0	.	4.1995	0.10458	0.0:0.6017:0.2438:0.1545	.	3827;3247	A7Y9J9;E9PBJ0	.;.	C	3244;3247;3216;3204	ENSP00000436812:S3244C;ENSP00000415793:S3247C	ENSP00000343037:S3216C	S	+	2	0	MUC5B	1224417	.	.	0.000000	0.03702	0.003000	0.03518	.	.	0.248000	0.21435	0.195000	0.17529	TCC		PASS	0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		27	87	27	87	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1271670	1271670	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1271670C>A	ENST00000529681.1	+	31	13618	c.13560C>A	c.(13558-13560)acC>acA	p.T4520T	MUC5B_ENST00000447027.1_Silent_p.T4523T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4520	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				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.T4475T(1)|p.T4520T(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)		CCACAGCTACCAGCTTTACAG	0.627																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(14977-14979)ACC>ACA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							80.0	119.0	106.0					11																	1271670		2120	4209	6329	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271670C>A	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.13560C>A	11.37:g.1271670C>A						MUC5B_uc001ltb.2_Silent_p.T4523T	p.T4993T	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)	51	15105	+		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)	4520			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14979C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	1.540	-0.542150	0.04053	.	.	ENSG00000117983	ENST00000535652	.	.	.	2.12	-4.24	0.03777	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28235	-1.0050	5	0.07175	T	0.84	.	1.2586	0.01996	0.1466:0.3237:0.2918:0.2378	.	.	.	.	K	299	.	ENSP00000439776:Q299K	Q	+	1	0	MUC5B	1228246	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.569000	0.05902	-1.448000	0.01941	-1.296000	0.01341	CAG		PASS	0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		28	39	28	39	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1273754	1273754	+	Splice_Site	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1273754G>T	ENST00000529681.1	+	32	15103	c.15045G>T	c.(15043-15045)caG>caT	p.Q5015H	MUC5B_ENST00000447027.1_Splice_Site_p.Q5018H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5015					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.Q4970H(1)|p.Q5015H(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)		CTCTCCGGCAGGTGGGCCCCG	0.716																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(16009-16011)CAG>CAT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							18.0	22.0	20.0					11																	1273754		2082	4160	6242	SO:0001630	splice_region_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1273754G>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.15045+1G>T	11.37:g.1273754G>T						MUC5B_uc001ltb.2_Missense_Mutation_p.Q5018H	p.Q5337H	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	16137	+		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)	5015					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16011G>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	7.589	0.670279	0.14776	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20069	2.1;2.3	4.52	4.52	0.55395	.	.	.	.	.	T	0.39410	0.1077	M	0.64170	1.965	0.28096	N	0.931593	D;D	0.65815	0.995;0.995	P;P	0.61328	0.887;0.839	T	0.15752	-1.0426	9	0.87932	D	0	.	11.4102	0.49921	0.0:0.1843:0.8157:0.0	.	5337;5018	A7Y9J9;E9PBJ0	.;.	H	5015;5018;4959;4714	ENSP00000436812:Q5015H;ENSP00000415793:Q5018H	ENSP00000343037:Q4959H	Q	+	3	2	MUC5B	1230330	0.954000	0.32549	0.995000	0.50966	0.151000	0.21798	2.177000	0.42509	2.451000	0.82905	0.561000	0.74099	CAG		PASS	0.716	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	Missense_Mutation	5	10	5	10	---	---	---	---
MOB2	81532	broad.mit.edu	37	11	1492537	1492537	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1492537G>A	ENST00000329957.6	-	4	667	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	129					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P160S(2)		breast(1)|kidney(2)|lung(1)	4						TATTTTGTGGGGAACACGTCC	0.592																																						uc010qwz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(478-480)CCC>TCC		HCCA2 protein							101.0	115.0	110.0					11																	1492537		2152	4249	6401	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1492537G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.478C>T	11.37:g.1492537G>A	ENSP00000328694:p.Pro160Ser					MOB2_uc001lto.1_Missense_Mutation_p.P44S|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.P123S|MOB2_uc010qwy.1_Missense_Mutation_p.P44S	p.P160S	NM_053005	NP_443731	Q70IA6	MOB2_HUMAN			4	668	-			129					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.478C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229990	0.79688	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.1	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87543	0.2460	9	0.87932	D	0	-29.7225	12.2509	0.54597	0.0854:0.0:0.9146:0.0	.	160;129	E9PDA5;Q70IA6	.;MOB2_HUMAN	S	160	.	ENSP00000328694:P160S	P	-	1	0	AC091196.1	1449113	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.057000	0.71119	2.132000	0.65825	0.462000	0.41574	CCC		PASS	0.592	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		8	19	8	19	---	---	---	---
KRTAP5-1	387264	broad.mit.edu	37	11	1606160	1606161	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1606160_1606161CC>TT	ENST00000382171.2	-	1	352_353	c.319_320GG>AA	c.(319-321)GGg>AAg	p.G107K	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	107	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G107E(2)|p.G107R(1)|p.G107K(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCACAGCCCCCCTTGGAGCCC	0.673																																						uc001ltu.1																			4	Substitution - Missense(4)		lung(3)|upper_aerodigestive_tract(1)		0						c.(319-321)GGG>GAG|c.(319-321)GGG>AGG		keratin associated protein 5-1																																				SO:0001583	missense	387264					keratin filament		g.chr11:1606160C>T|g.chr11:1606161C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.319_320delinsTT	11.37:g.1606160_1606161delinsTT	ENSP00000371606:p.Gly107Lys					LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	p.G107E|p.G107R	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	354|353	-		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)	107			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.320G>A|c.319G>A	CCDS31330.1																																																																																				PASS	0.673	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		4	21	4	21	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651422	1651422	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1651422G>A	ENST00000399676.2	+	1	390	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	118	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.G118S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTCCAAGGGGGGCTGTGGCTC	0.701																																						uc001lty.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(352-354)GGC>AGC		keratin associated protein 5-5							14.0	23.0	20.0					11																	1651422		1970	3963	5933	SO:0001583	missense	439915					keratin filament		g.chr11:1651422G>A	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.352G>A	11.37:g.1651422G>A	ENSP00000382584:p.Gly118Ser						p.G118S	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	390	+		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)	118	Missing (in Ref. 1; BAD20201 and 2; CAF31639).		8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.352G>A	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.201110	0.00296	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01347	4.99	2.98	2.05	0.26809	.	.	.	.	.	T	0.01489	0.0048	L	0.60455	1.87	0.19300	N	0.999971	B	0.25521	0.128	B	0.20955	0.032	T	0.49283	-0.8956	9	0.02654	T	1	.	5.9778	0.19391	0.1613:0.0:0.8387:0.0	.	118	Q701N2	KRA55_HUMAN	S	118;89	ENSP00000382584:G118S	ENSP00000382584:G118S	G	+	1	0	KRTAP5-5	1607998	0.735000	0.28153	0.993000	0.49108	0.022000	0.10575	-0.838000	0.04372	0.261000	0.21753	-0.478000	0.04885	GGC		PASS	0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			7	19	7	19	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651541	1651541	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:1651541C>T	ENST00000399676.2	+	1	509	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	157	8 X 4 AA repeats of C-C-X-P.			S -> C (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.S157S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCCCAGTCCAGCTGCTGCA	0.652																																						uc001lty.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(469-471)TCC>TCT		keratin associated protein 5-5							43.0	60.0	54.0					11																	1651541		2198	4279	6477	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651541C>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.471C>T	11.37:g.1651541C>T							p.S157S	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	509	+		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)	157	S -> C (in Ref. 1; BAD20201 and 2; CAF31639).		8 X 4 AA repeats of C-C-X-P.		A8MWN2	Silent	SNP	ENST00000399676.2	37	c.471C>T	CCDS41592.1																																																																																				PASS	0.652	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			6	19	6	19	---	---	---	---
TRPM5	29850	broad.mit.edu	37	11	2434714	2434714	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:2434714G>A	ENST00000155858.6	-	13	2003	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	TRPM5_ENST00000528453.1_Silent_p.I665I|TRPM5_ENST00000452833.1_Silent_p.I667I|TRPM5_ENST00000533060.1_Silent_p.I665I	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.I665I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTGAAGGTGATGAGGTTGG	0.682																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1993-1995)ATC>ATT		transient receptor potential cation channel,							35.0	36.0	36.0					11																	2434714		2197	4298	6495	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2434714G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1995C>T	11.37:g.2434714G>A						TRPM5_uc010qxl.1_Silent_p.I665I|TRPM5_uc009ydn.2_Silent_p.I667I	p.I665I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	13	2004	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	665			Helical; (Potential).			Silent	SNP	ENST00000155858.6	37	c.1995C>T	CCDS31340.1																																																																																				PASS	0.682	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	7	4	7	---	---	---	---
STIM1	6786	broad.mit.edu	37	11	4091353	4091353	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:4091353C>T	ENST00000300737.4	+	6	1280	c.711C>T	c.(709-711)tcC>tcT	p.S237S	STIM1_ENST00000527651.1_Silent_p.S237S|STIM1_ENST00000533977.1_Silent_p.S64S	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	237					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)	p.S237S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ACCGTTACTCCAAGGAGCACA	0.522																																						uc001lyv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(709-711)TCC>TCT		stromal interaction molecule 1 precursor							203.0	178.0	186.0					11																	4091353		2201	4298	6499	SO:0001819	synonymous_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4091353C>T	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.711C>T	11.37:g.4091353C>T						STIM1_uc009yef.2_Silent_p.S237S|STIM1_uc009yeg.2_Silent_p.S64S	p.S237S	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	6	1279	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	237			Cytoplasmic (Potential).		E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	c.711C>T	CCDS7749.1																																																																																				PASS	0.522	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		22	42	22	42	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869963	4869963	+	Missense_Mutation	SNP	C	C	T	rs538018962		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:4869963C>T	ENST00000322101.2	-	1	551	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCAGGCATCGAAAAGAAAT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19156	0.0		0.0	False		,,,				2504	0.0					uc010qyo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(475-477)CGA>CAA		olfactory receptor, family 51, subfamily S,							100.0	101.0	101.0					11																	4869963		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869963C>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.476G>A	11.37:g.4869963C>T	ENSP00000322754:p.Arg159Gln						p.R159Q	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	476	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	159			Helical; Name=4; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.476G>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779276	0.31502	.	.	ENSG00000176922	ENST00000322101	T	0.71817	-0.6	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.197509	0.24917	N	0.034572	T	0.69655	0.3135	M	0.85945	2.785	0.26804	N	0.969143	P	0.38827	0.649	B	0.29598	0.104	T	0.69822	-0.5041	10	0.87932	D	0	-1.1434	12.719	0.57131	0.0:0.9205:0.0:0.0795	.	159	Q8NGJ8	O51S1_HUMAN	Q	159	ENSP00000322754:R159Q	ENSP00000322754:R159Q	R	-	2	0	OR51S1	4826539	0.004000	0.15560	0.927000	0.36925	0.308000	0.27856	2.123000	0.41996	1.455000	0.47813	0.655000	0.94253	CGA		PASS	0.542	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		33	45	33	45	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5012670	5012670	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5012670G>A	ENST00000380390.1	+	5	755	c.539G>A	c.(538-540)gGa>gAa	p.G180E	MMP26_ENST00000300762.1_Missense_Mutation_p.G180E			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	180					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G180E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCAAATTCTGGAAATCCTGGA	0.473																																						uc001lzv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GGA>GAA		matrix metalloproteinase 26 preproprotein							174.0	169.0	171.0					11																	5012670		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5012670G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.539G>A	11.37:g.5012670G>A	ENSP00000369753:p.Gly180Glu						p.G180E	NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	4	557	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	180					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.539G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243008	0.39697	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.53640	0.61;0.61	3.93	-7.86	0.01187	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.615210	0.04450	N	0.372412	T	0.45256	0.1333	M	0.80746	2.51	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.36040	-0.9764	10	0.59425	D	0.04	.	5.645	0.17584	0.2235:0.1048:0.5682:0.1035	.	180	Q9NRE1	MMP26_HUMAN	E	180	ENSP00000369753:G180E;ENSP00000300762:G180E	ENSP00000300762:G180E	G	+	2	0	MMP26	4969246	0.007000	0.16637	0.000000	0.03702	0.836000	0.47400	0.896000	0.28377	-3.290000	0.00195	-0.899000	0.02877	GGA		PASS	0.473	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		27	127	27	127	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5079909	5079909	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5079909C>T	ENST00000321522.2	-	1	948	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E317K(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGTACTCTTCCTTTTCCATT	0.338																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(949-951)GAA>AAA		olfactory receptor, family 52, subfamily E,							59.0	60.0	59.0					11																	5079909		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5079909C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.949G>A	11.37:g.5079909C>T	ENSP00000322088:p.Glu317Lys						p.E317K	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	949	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	317			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.949G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	4.019	0.001015	0.07819	.	.	ENSG00000176787	ENST00000321522	T	0.00003	9.83	3.56	0.443	0.16587	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29822	-0.9999	9	0.02654	T	1	.	2.6526	0.05003	0.2104:0.4125:0.0:0.3771	.	317	Q8NGJ4	O52E2_HUMAN	K	317	ENSP00000322088:E317K	ENSP00000322088:E317K	E	-	1	0	OR52E2	5036485	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.322000	0.08007	0.103000	0.17682	0.585000	0.79938	GAA		PASS	0.338	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		19	31	19	31	---	---	---	---
HBD	3045	broad.mit.edu	37	11	5254288	5254288	+	Missense_Mutation	SNP	C	C	T	rs34536353		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5254288C>T	ENST00000380299.3	-	3	564	c.350G>A	c.(349-351)cGc>cAc	p.R117H	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	117			R -> C (in Corfu/Troodos; dbSNP:rs33971270). {ECO:0000269|PubMed:16370491, ECO:0000269|PubMed:1742490, ECO:0000269|PubMed:2066116}.|R -> H (in Coburg; dbSNP:rs34536353). {ECO:0000269|PubMed:1148221}.		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.R117H(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)		GCCAAAGTTGCGGGCCAGCAC	0.512																																						uc001maf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM023082|CM032939	HBD	M	rs34536353	c.(349-351)CGC>CAC		delta globin							127.0	106.0	113.0					11																	5254288		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254288C>T	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.350G>A	11.37:g.5254288C>T	ENSP00000369654:p.Arg117His						p.R117H	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	545	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	117					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.350G>A	CCDS31376.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0|0	-2.773000|-2.773000	0.00081|0.00081	.|.	.|.	ENSG00000223609|ENSG00000223609	ENST00000417377|ENST00000380299	D|D	0.88354|0.93763	-2.37|-3.28	4.81|4.81	-9.61|-9.61	0.00550|0.00550	.|Globin-like (1);Globin, structural domain (1);	.|1.892630	.|0.01930	.|N	.|0.041151	D|D	0.82628|0.82628	0.5078|0.5078	N|N	0.11698|0.11698	0.16|0.16	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.16289	.|0.015	T|T	0.72408|0.72408	-0.4303|-0.4303	7|10	0.30854|0.07644	T|T	0.27|0.81	-1.2327|-1.2327	9.4936|9.4936	0.38976|0.38976	0.1386:0.6576:0.1077:0.096|0.1386:0.6576:0.1077:0.096	rs34536353|rs34536353	.|117	.|P02042	.|HBD_HUMAN	T|H	43|117	ENSP00000414741:A43T|ENSP00000369654:R117H	ENSP00000414741:A43T|ENSP00000369654:R117H	A|R	-|-	1|2	0|0	HBD|HBD	5210864|5210864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.809000|-2.809000	0.00756|0.00756	-4.188000|-4.188000	0.00066|0.00066	-1.004000|-1.004000	0.02495|0.02495	GCA|CGC		PASS	0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		20	36	20	36	---	---	---	---
OR51B4	79339	broad.mit.edu	37	11	5322575	5322575	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5322575G>A	ENST00000380224.1	-	1	651	c.602C>T	c.(601-603)tCt>tTt	p.S201F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	201					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.S201F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGTCAAAGAAGTCTGAAT	0.393																																						uc010qza.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(601-603)TCT>TTT		olfactory receptor, family 51, subfamily B,							72.0	72.0	72.0					11																	5322575		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322575G>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.602C>T	11.37:g.5322575G>A	ENSP00000369573:p.Ser201Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.S201F	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	602	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	201			Helical; Name=5; (Potential).		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.602C>T	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	0.381	-0.928683	0.02359	.	.	ENSG00000183251	ENST00000380224	T	0.36340	1.26	4.41	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.795361	0.10915	N	0.620142	T	0.16300	0.0392	N	0.03948	-0.315	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.24835	-1.0149	10	0.32370	T	0.25	.	7.0058	0.24836	0.2868:0.0:0.7132:0.0	.	201	Q9Y5P0	O51B4_HUMAN	F	201	ENSP00000369573:S201F	ENSP00000369573:S201F	S	-	2	0	OR51B4	5279151	0.002000	0.14202	0.352000	0.25734	0.001000	0.01503	1.179000	0.31993	0.493000	0.27837	-0.136000	0.14681	TCT		PASS	0.393	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		11	34	11	34	---	---	---	---
OR51B2	79345	broad.mit.edu	37	11	5345101	5345101	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5345101C>T	ENST00000328813.2	-	1	481	c.427G>A	c.(427-429)Gga>Aga	p.G143R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G143L(1)|p.G143*(1)|p.G143R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCCCACTCCTAACGCTATG	0.408																																						uc001mao.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(2)|skin(1)	3						c.(427-429)GGA>AGA		olfactory receptor, family 51, subfamily B,							111.0	106.0	108.0					11																	5345101		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5345101C>T	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.427G>A	11.37:g.5345101C>T	ENSP00000327540:p.Gly143Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.G143R	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	482	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	143			Helical; Name=4; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.427G>A	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476026	0.26511	.	.	ENSG00000184881	ENST00000328813	T	0.37411	1.2	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	U	0.001996	T	0.63604	0.2525	M	0.90977	3.165	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.59627	-0.7419	10	0.87932	D	0	.	9.4247	0.38572	0.0:0.9017:0.0:0.0983	.	143	Q9Y5P1	O51B2_HUMAN	R	143	ENSP00000327540:G143R	ENSP00000327540:G143R	G	-	1	0	OR51B2	5301677	0.002000	0.14202	0.108000	0.21378	0.168000	0.22595	1.462000	0.35266	2.251000	0.74343	0.644000	0.83932	GGA		PASS	0.408	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		37	42	37	42	---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5373580	5373580	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5373580C>T	ENST00000380219.1	+	1	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	281					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.F281F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTTTTCCCACCTTTTA	0.383																																						uc010qzb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(841-843)TTC>TTT		olfactory receptor, family 51, subfamily B,							158.0	148.0	152.0					11																	5373580		2201	4297	6498	SO:0001819	synonymous_variant	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373580C>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.843C>T	11.37:g.5373580C>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.F281F	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	843	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	281			Helical; Name=7; (Potential).			Silent	SNP	ENST00000380219.1	37	c.843C>T	CCDS31379.1																																																																																				PASS	0.383	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		7	44	7	44	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5410988	5410988	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5410988C>T	ENST00000328611.3	+	1	382	c.360C>T	c.(358-360)tcC>tcT	p.S120S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	120					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.S120S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTTTTTCCTTCATGGAGT	0.502																																						uc010qzc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(358-360)TCC>TCT		olfactory receptor, family 51, subfamily M,							236.0	224.0	228.0					11																	5410988		2033	4224	6257	SO:0001819	synonymous_variant	390059					integral to membrane	olfactory receptor activity	g.chr11:5410988C>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.360C>T	11.37:g.5410988C>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S120S	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	360	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	120					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.360C>T	CCDS53596.1																																																																																				PASS	0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		26	124	26	124	---	---	---	---
OR52D1	390066	broad.mit.edu	37	11	5509997	5509997	+	Missense_Mutation	SNP	C	C	T	rs552766776		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5509997C>T	ENST00000322641.5	+	1	83	c.61C>T	c.(61-63)Cca>Tca	p.P21S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	21					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.P21S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAGGGATCCCAGGGCTGGA	0.483																																						uc010qzg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(61-63)CCA>TCA		olfactory receptor, family 52, subfamily D,							144.0	132.0	136.0					11																	5509997		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5509997C>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.61C>T	11.37:g.5509997C>T	ENSP00000326232:p.Pro21Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P21S	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	61	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	21			Extracellular (Potential).		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.61C>T	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947298	0.73672	.	.	ENSG00000181609	ENST00000322641	T	0.00495	6.99	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000007	T	0.01454	0.0047	L	0.60455	1.87	0.46654	D	0.999147	D	0.69078	0.997	D	0.65010	0.931	T	0.69950	-0.5006	10	0.87932	D	0	.	17.8504	0.88746	0.0:1.0:0.0:0.0	.	21	Q9H346	O52D1_HUMAN	S	21	ENSP00000326232:P21S	ENSP00000326232:P21S	P	+	1	0	OR52D1	5466573	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.754000	0.55189	2.797000	0.96272	0.650000	0.86243	CCA		PASS	0.483	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		8	36	8	36	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5530073	5530073	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5530073C>A	ENST00000311659.4	-	2	863	c.716G>T	c.(715-717)cGg>cTg	p.R239L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	239								p.R239L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGAGCACCCGGTCCTGGCT	0.483																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(715-717)CGG>CTG		ubiquilin 3							91.0	86.0	87.0					11																	5530073		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530073C>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.716G>T	11.37:g.5530073C>A	ENSP00000347997:p.Arg239Leu					HBG2_uc001mak.1_Intron	p.R239L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	802	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	239					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.716G>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979637	0.74360	.	.	ENSG00000175520	ENST00000311659	T	0.44482	0.92	5.53	5.53	0.82687	.	0.000000	0.41294	D	0.000906	T	0.50684	0.1630	M	0.70903	2.155	0.45822	D	0.998698	P	0.42961	0.795	P	0.44732	0.459	T	0.50466	-0.8825	10	0.42905	T	0.14	-29.1404	17.3163	0.87225	0.0:1.0:0.0:0.0	.	239	Q9H347	UBQL3_HUMAN	L	239	ENSP00000347997:R239L	ENSP00000347997:R239L	R	-	2	0	UBQLN3	5486649	0.999000	0.42202	0.998000	0.56505	0.989000	0.77384	3.839000	0.55835	2.750000	0.94351	0.591000	0.81541	CGG		PASS	0.483	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		5	59	5	59	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776770	5776770	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5776770G>A	ENST00000317254.3	+	1	848	c.800G>A	c.(799-801)gGg>gAg	p.G267E	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G267E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACCGCTTTGGGGAACACATA	0.463																																						uc001mbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(799-801)GGG>GAG		olfactory receptor, family 52, subfamily N,							184.0	174.0	178.0					11																	5776770		1963	4182	6145	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776770G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.800G>A	11.37:g.5776770G>A	ENSP00000323224:p.Gly267Glu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.G267E	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	848	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	267			Extracellular (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.800G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886432	0.72410	.	.	ENSG00000181074	ENST00000317254	T	0.38722	1.12	5.72	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001578	T	0.69495	0.3117	M	0.91663	3.23	0.34775	D	0.734164	D	0.69078	0.997	D	0.73380	0.98	T	0.81771	-0.0780	10	0.87932	D	0	.	12.9364	0.58316	0.0784:0.0:0.9216:0.0	.	267	Q8NGI2	O52N4_HUMAN	E	267	ENSP00000323224:G267E	ENSP00000323224:G267E	G	+	2	0	OR52N4	5733346	1.000000	0.71417	0.963000	0.40424	0.762000	0.43233	4.442000	0.59988	2.705000	0.92388	0.644000	0.83932	GGG		PASS	0.463	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		20	73	20	73	---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5863044	5863044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5863044C>T	ENST00000329322.5	-	1	83	c.84G>A	c.(82-84)tgG>tgA	p.W28*	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Nonsense_Mutation_p.W32*	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W32*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAATCCAATCCAGATGTGCA	0.443																																						uc010qzq.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(82-84)TGG>TGA		olfactory receptor, family 52, subfamily E,							107.0	107.0	107.0					11																	5863044		2199	4296	6495	SO:0001587	stop_gained	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5863044C>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.84G>A	11.37:g.5863044C>T	ENSP00000328878:p.Trp28*					TRIM5_uc001mbq.1_Intron	p.W28*	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	84	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	28			Helical; Name=1; (Potential).		Q6IFF8	Nonsense_Mutation	SNP	ENST00000329322.5	37	c.84G>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162907	0.38217	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	.	.	.	3.64	3.64	0.41730	.	0.122830	0.37906	N	0.001895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0516	0.64739	0.0:1.0:0.0:0.0	.	.	.	.	X	28;32	.	ENSP00000328878:W28X	W	-	3	0	OR52E6	5819620	0.976000	0.34144	0.584000	0.28653	0.180000	0.23129	2.443000	0.44881	1.857000	0.53885	0.551000	0.68910	TGG		PASS	0.443	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		39	72	39	72	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5968751	5968751	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:5968751C>T	ENST00000329564.6	+	1	182	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L59L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCCTCTCTGCACCAGCC	0.612																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)CTG>TTG		olfactory receptor, family 56, subfamily A,							122.0	122.0	122.0					11																	5968751		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968751C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.175C>T	11.37:g.5968751C>T							p.L59L	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	175	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	59			Helical; Name=2; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.175C>T	CCDS41614.1																																																																																				PASS	0.612	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		27	26	27	26	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048179	6048179	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6048179G>A	ENST00000316650.5	-	1	792	c.756C>T	c.(754-756)ttC>ttT	p.F252F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F252F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATGAGGATGAAGTGGGAGC	0.512																																						uc010qzw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(754-756)TTC>TTT		olfactory receptor, family 56, subfamily A,							71.0	68.0	69.0					11																	6048179		2201	4296	6497	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048179G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.756C>T	11.37:g.6048179G>A							p.F252F	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	756	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	252			Helical; Name=6; (Potential).		B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.756C>T	CCDS31405.1																																																																																				PASS	0.512	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		17	22	17	22	---	---	---	---
HPX	3263	broad.mit.edu	37	11	6452588	6452588	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6452588G>A	ENST00000265983.3	-	10	1342	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	414					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.G414G(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATGAGTTAGGGCCAAGGGACT	0.552																																						uc001mdg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1240-1242)GGC>GGT		hemopexin precursor							173.0	155.0	161.0					11																	6452588		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452588G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1242C>T	11.37:g.6452588G>A						HPX_uc001mdf.2_Silent_p.G160G|HPX_uc009yfc.2_RNA	p.G414G	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1303	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	414					B2R957	Silent	SNP	ENST00000265983.3	37	c.1242C>T	CCDS7763.1																																																																																				PASS	0.552	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		18	30	18	30	---	---	---	---
TRIM3	10612	broad.mit.edu	37	11	6477540	6477540	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6477540G>A	ENST00000525074.1	-	6	1810	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Silent_p.L472L|TRIM3_ENST00000359518.3_Silent_p.L472L|TRIM3_ENST00000536344.1_Silent_p.L353L|TRIM3_ENST00000537602.1_Silent_p.L394L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	472					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L472L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGGAAGACGAGCTCATCCT	0.607																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1414-1416)CTC>CTT		tripartite motif-containing 3							102.0	91.0	95.0					11																	6477540		2201	4296	6497	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477540G>A	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1416C>T	11.37:g.6477540G>A						TRIM3_uc001mdi.2_Silent_p.L472L|TRIM3_uc010raj.1_Silent_p.L353L|TRIM3_uc009yfd.2_Silent_p.L472L|TRIM3_uc010rak.1_Silent_p.L472L|TRIM3_uc001mdj.2_Silent_p.L353L	p.L472L	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1803	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	472					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.1416C>T	CCDS7764.1																																																																																				PASS	0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		7	41	7	41	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6649925	6649925	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6649925G>A	ENST00000299441.3	-	13	5709	c.5298C>T	c.(5296-5298)ccC>ccT	p.P1766P	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1766	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1766P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGGGTCTGGGGGTCCTGGC	0.572																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5296-5298)CCC>CCT		dachsous 1 precursor							99.0	92.0	95.0					11																	6649925		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6649925G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5298C>T	11.37:g.6649925G>A							p.P1766P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	13	5708	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1766			Cadherin 17.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.5298C>T	CCDS7771.1																																																																																				PASS	0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		16	23	16	23	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6651036	6651036	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6651036G>A	ENST00000299441.3	-	11	5313	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1634	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1634V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACGGTCAGGACCTGCGTGG	0.642																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(4900-4902)GTC>GTT		dachsous 1 precursor							46.0	46.0	46.0					11																	6651036		2200	4295	6495	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651036G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4902C>T	11.37:g.6651036G>A							p.V1634V	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5312	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1634			Cadherin 15.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.4902C>T	CCDS7771.1																																																																																				PASS	0.642	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		10	11	10	11	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891165	6891165	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:6891165C>T	ENST00000307322.4	+	1	242	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F60F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGATTGGCTTCAACCTAGTCA	0.493																																						uc001meu.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(178-180)TTC>TTT		olfactory receptor, family 10, subfamily A,							116.0	115.0	115.0					11																	6891165		2200	4276	6476	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891165C>T	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.180C>T	11.37:g.6891165C>T							p.F60F	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	180	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	60			Helical; Name=2; (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.180C>T	CCDS31415.1																																																																																				PASS	0.493	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		16	63	16	63	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064414	7064414	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:7064414G>A	ENST00000299481.4	+	4	1503	c.1157G>A	c.(1156-1158)gGt>gAt	p.G386D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	386	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.G386D(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)		ATGGAGAAGGGTGGTGATGTC	0.478																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1156-1158)GGT>GAT		NLR family, pyrin domain containing 14							158.0	151.0	153.0					11																	7064414		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064414G>A	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.1157G>A	11.37:g.7064414G>A	ENSP00000299481:p.Gly386Asp						p.G386D	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1480	+			386			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1157G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955119	0.73902	.	.	ENSG00000158077	ENST00000299481	D	0.83992	-1.79	4.69	3.78	0.43462	.	0.385281	0.22595	N	0.058040	D	0.86439	0.5933	M	0.71871	2.18	0.39054	D	0.960398	D	0.59357	0.985	P	0.54856	0.762	D	0.88033	0.2776	10	0.72032	D	0.01	.	10.7414	0.46156	0.0934:0.0:0.9066:0.0	.	386	Q86W24	NAL14_HUMAN	D	386	ENSP00000299481:G386D	ENSP00000299481:G386D	G	+	2	0	NLRP14	7020990	0.001000	0.12720	0.996000	0.52242	0.946000	0.59487	0.391000	0.20784	1.356000	0.45884	0.655000	0.94253	GGT		PASS	0.478	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		16	67	16	67	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7984936	7984936	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:7984936G>A	ENST00000328600.2	-	1	268	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	36	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.T36I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAGACAGGGTCATATCCCG	0.537																																						uc001mfv.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(106-108)ACC>ATC		NLR family, pyrin domain containing 10							69.0	70.0	69.0					11																	7984936		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7984936G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.107C>T	11.37:g.7984936G>A	ENSP00000327763:p.Thr36Ile						p.T36I	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	124	-			36			DAPIN.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.107C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458040	0.43634	.	.	ENSG00000182261	ENST00000328600;ENST00000526590	T;T	0.49139	0.79;0.79	3.53	0.132	0.14762	Pyrin (2);DEATH-like (2);	0.956525	0.08586	N	0.923758	T	0.55033	0.1895	L	0.43152	1.355	0.09310	N	1	D	0.53885	0.963	D	0.63283	0.913	T	0.51741	-0.8667	10	0.21014	T	0.42	.	11.487	0.50358	0.0:0.584:0.416:0.0	.	36	Q86W26	NAL10_HUMAN	I	36	ENSP00000327763:T36I;ENSP00000436255:T36I	ENSP00000327763:T36I	T	-	2	0	NLRP10	7941512	0.258000	0.24033	0.001000	0.08648	0.057000	0.15508	1.017000	0.29989	-0.076000	0.12775	0.563000	0.77884	ACC		PASS	0.537	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		17	24	17	24	---	---	---	---
LYVE1	10894	broad.mit.edu	37	11	10585793	10585793	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:10585793C>T	ENST00000256178.3	-	2	372	c.214G>A	c.(214-216)Gac>Aac	p.D72N	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	72	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.D72N(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TCAACTTGGTCCTTGCCGGCC	0.478																																						uc001miv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(214-216)GAC>AAC		lymphatic vessel endothelial hyaluronan receptor							97.0	91.0	93.0					11																	10585793		2201	4294	6495	SO:0001583	missense	10894				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		g.chr11:10585793C>T	AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.214G>A	11.37:g.10585793C>T	ENSP00000256178:p.Asp72Asn					uc001miu.2_Intron|LYVE1_uc010rca.1_Intron	p.D72N	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN		all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)	2	500	-			72			Link.|Extracellular (Potential).		Q8TC18|Q9UNF4	Missense_Mutation	SNP	ENST00000256178.3	37	c.214G>A	CCDS7804.1	.	.	.	.	.	.	.	.	.	.	C	0.140	-1.103094	0.01828	.	.	ENSG00000133800	ENST00000256178	T	0.09723	2.95	5.61	2.57	0.30868	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.930568	0.09222	N	0.831731	T	0.05868	0.0153	N	0.13235	0.315	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.47169	-0.9138	10	0.18710	T	0.47	0.101	4.3469	0.11138	0.1461:0.5178:0.0:0.3362	.	72	Q9Y5Y7	LYVE1_HUMAN	N	72	ENSP00000256178:D72N	ENSP00000256178:D72N	D	-	1	0	LYVE1	10542369	0.004000	0.15560	0.095000	0.20976	0.002000	0.02628	-0.376000	0.07465	0.254000	0.21573	-0.378000	0.06908	GAC		PASS	0.478	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385893.1	NM_016164		10	21	10	21	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14480174	14480174	+	Silent	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:14480174A>C	ENST00000249923.3	-	21	3006	c.2706T>G	c.(2704-2706)ggT>ggG	p.G902G	COPB1_ENST00000439561.2_Silent_p.G902G	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	902					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G902G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTGCATCTTCACCAAATATGG	0.428																																						uc001mli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2704-2706)GGT>GGG		coatomer protein complex, subunit beta 1							91.0	93.0	93.0					11																	14480174		2200	4294	6494	SO:0001819	synonymous_variant	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14480174A>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2706T>G	11.37:g.14480174A>C						COPB1_uc001mlg.2_Silent_p.G902G|COPB1_uc001mlh.2_Silent_p.G902G	p.G902G	NM_016451	NP_057535	P53618	COPB_HUMAN			21	3013	-			902					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	ENST00000249923.3	37	c.2706T>G	CCDS7815.1																																																																																				PASS	0.428	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		23	58	23	58	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17485036	17485036	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:17485036C>T	ENST00000389817.3	-	4	596	c.528G>A	c.(526-528)gtG>gtA	p.V176V	ABCC8_ENST00000302539.4_Silent_p.V176V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	176					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.V176V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CATAGAGGATCACCAGCAGCC	0.597																																						uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(526-528)GTG>GTA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						73.0	56.0	61.0					11																	17485036		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17485036C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.528G>A	11.37:g.17485036C>T						ABCC8_uc010rcy.1_Silent_p.V176V	p.V176V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	4	654	-			176			Helical; Name=5; (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.528G>A	CCDS31437.1																																																																																				PASS	0.597	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		5	8	5	8	---	---	---	---
TSG101	7251	broad.mit.edu	37	11	18503269	18503269	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:18503269G>A	ENST00000251968.3	-	9	1406	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	TSG101_ENST00000536719.1_Silent_p.L331L|TSG101_ENST00000357193.3_Silent_p.L226L	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	331	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.L331L(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TCTGCATACAGATTCAGGATC	0.403																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(991-993)CTG>TTG		tumor susceptibility gene 101							166.0	160.0	162.0					11																	18503269		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503269G>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.991C>T	11.37:g.18503269G>A							p.L331L	NM_006292	NP_006283	Q99816	TS101_HUMAN			9	1117	-			331			SB.		Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.991C>T	CCDS7842.1																																																																																				PASS	0.403	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		24	47	24	47	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20112443	20112443	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:20112443C>T	ENST00000396087.3	+	30	5807	c.5708C>T	c.(5707-5709)aCc>aTc	p.T1903I	NAV2_ENST00000540292.1_Missense_Mutation_p.T1834I|NAV2_ENST00000533917.1_Missense_Mutation_p.T908I|NAV2_ENST00000360655.4_Missense_Mutation_p.T1780I|NAV2_ENST00000349880.4_Missense_Mutation_p.T1844I|NAV2_ENST00000396085.1_Missense_Mutation_p.T1847I|NAV2_ENST00000527559.2_Missense_Mutation_p.T1832I|NAV2_ENST00000311043.8_Missense_Mutation_p.T908I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1903					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T1903I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCTGAGACCGTCATGCAG	0.488																																						uc001mpr.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(5539-5541)ACC>ATC		neuron navigator 2 isoform 1							92.0	76.0	81.0					11																	20112443		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20112443C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5708C>T	11.37:g.20112443C>T	ENSP00000379396:p.Thr1903Ile					NAV2_uc001mpp.2_Missense_Mutation_p.T1780I|NAV2_uc009yhx.2_Missense_Mutation_p.T908I|NAV2_uc009yhz.2_Missense_Mutation_p.T489I|NAV2_uc001mpu.2_Missense_Mutation_p.T282I	p.T1847I	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			27	5901	+			1903			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5540C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	3.928	-0.016802	0.07681	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	D	0.88187	0.6369	N	0.05280	-0.08	0.58432	D	0.999998	B;P;B;P	0.51653	0.038;0.873;0.028;0.947	B;P;B;P	0.49799	0.036;0.461;0.024;0.622	D	0.87418	0.2380	9	.	.	.	.	15.3619	0.74483	0.0:0.8611:0.1389:0.0	.	1847;908;1844;1780	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	I	1780;1847;1844;1903;1832;1834;908;908	ENSP00000353871:T1780I;ENSP00000379394:T1847I;ENSP00000309577:T1844I;ENSP00000379396:T1903I;ENSP00000435395:T1832I;ENSP00000443489:T1834I;ENSP00000437316:T908I;ENSP00000312169:T908I	.	T	+	2	0	NAV2	20069019	0.998000	0.40836	0.961000	0.40146	0.122000	0.20287	3.891000	0.56227	2.773000	0.95371	0.655000	0.94253	ACC		PASS	0.488	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	27	15	27	---	---	---	---
DBX1	120237	broad.mit.edu	37	11	20178223	20178223	+	Intron	SNP	C	C	T	rs377678387	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:20178223C>T	ENST00000524983.2	-	4	961				DBX1_ENST00000227256.3_Missense_Mutation_p.R229K			A6NMT0	DBX1_HUMAN	developing brain homeobox 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R229K(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AGGCTCTGTCCTTCGGGCTGT	0.667													C|||	2	0.000399361	0.0015	0.0	5008	,	,		10338	0.0		0.0	False		,,,				2504	0.0					uc001mpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)AGG>AAG		developing brain homeobox 1		C		4,4368		0,4,2182	18.0	25.0	23.0			-2.5	0.0	11		23	0,8548		0,0,4274	no	intron	DBX1	NM_001029865.2		0,4,6456	TT,TC,CC		0.0,0.0915,0.031			20178223	4,12916	2186	4274	6460	SO:0001627	intron_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178223C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.673-104G>A	11.37:g.20178223C>T							p.R229K	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			4	686	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000524983.2	37	c.686G>A		.	.	.	.	.	.	.	.	.	.	C	6.214	0.407630	0.11754	9.15E-4	0.0	ENSG00000109851	ENST00000227256	T	0.60548	0.18	3.64	-2.48	0.06423	.	.	.	.	.	T	0.33904	0.0879	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21861	-1.0233	8	0.15952	T	0.53	8.4364	8.2226	0.31549	0.0:0.4677:0.0:0.5323	.	229	F8W811	.	K	229	ENSP00000227256:R229K	ENSP00000227256:R229K	R	-	2	0	DBX1	20134799	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.569000	0.00915	-0.695000	0.05105	-0.482000	0.04802	AGG		PASS	0.667	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		4	16	4	16	---	---	---	---
HTATIP2	10553	broad.mit.edu	37	11	20385820	20385820	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:20385820G>A	ENST00000451739.2	+	1	478	c.37G>A	c.(37-39)Gac>Aac	p.D13N	HTATIP2_ENST00000443524.2_Missense_Mutation_p.D13N|HTATIP2_ENST00000421577.2_Missense_Mutation_p.D13N|HTATIP2_ENST00000532081.1_Missense_Mutation_p.D13N|HTATIP2_ENST00000530266.1_Missense_Mutation_p.D13N|HTATIP2_ENST00000419348.2_Missense_Mutation_p.D47N|HTATIP2_ENST00000531058.1_Missense_Mutation_p.D13N|HTATIP2_ENST00000532505.1_Missense_Mutation_p.D13N	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa									p.D13N(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTTCGGGAAGACTTCAGGAT	0.527																																						uc009yia.1																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GAC>AAC		HIV-1 Tat interactive protein 2, 30kDa isoform							93.0	99.0	97.0					11																	20385820		2203	4300	6503	SO:0001583	missense	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20385820G>A	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.37G>A	11.37:g.20385820G>A	ENSP00000394259:p.Asp13Asn					HTATIP2_uc009yib.1_Missense_Mutation_p.D13N|HTATIP2_uc001mpx.2_Missense_Mutation_p.D47N|HTATIP2_uc001mpz.2_Missense_Mutation_p.D13N|HTATIP2_uc001mpy.3_Missense_Mutation_p.D13N	p.D13N	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN			2	103	+			13						Missense_Mutation	SNP	ENST00000451739.2	37	c.37G>A	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321702	0.81580	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	6.02	5.11	0.69529	.	0.229457	0.51477	D	0.000082	T	0.13543	0.0328	N	0.02011	-0.69	0.45554	D	0.998501	B;B;B	0.20887	0.001;0.049;0.005	B;B;B	0.17433	0.001;0.018;0.003	T	0.08493	-1.0719	10	0.36615	T	0.2	-14.0564	13.146	0.59461	0.0767:0.0:0.9233:0.0	.	13;13;47	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	N	13;13;13;47;13;13;13;13	ENSP00000397752:D13N;ENSP00000387876:D13N;ENSP00000392985:D47N;ENSP00000394259:D13N;ENSP00000436729:D13N	ENSP00000392985:D47N	D	+	1	0	HTATIP2	20342396	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.740000	0.38228	1.570000	0.49709	0.655000	0.94253	GAC		PASS	0.527	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		29	47	29	47	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22283680	22283680	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:22283680C>T	ENST00000324559.8	+	16	1953	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	546					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P546S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAGAAATTCCTCGAACATA	0.343																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1636-1638)CCT>TCT		anoctamin 5 isoform a							126.0	123.0	124.0					11																	22283680		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283680C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1636C>T	11.37:g.22283680C>T	ENSP00000315371:p.Pro546Ser					ANO5_uc001mqj.2_Missense_Mutation_p.P545S	p.P546S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			16	1953	+			546			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1636C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206386	0.95033	.	.	ENSG00000171714	ENST00000324559	T	0.63255	-0.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.86463	0.1780	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	546	Q75V66	ANO5_HUMAN	S	546	ENSP00000315371:P546S	ENSP00000315371:P546S	P	+	1	0	ANO5	22240256	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		13	26	13	26	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22360119	22360119	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:22360119G>A	ENST00000263160.3	+	1	477	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CTD-2140G10.2_ENST00000528009.1_RNA|CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000531304.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	14					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.E14K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCCAGGAAAAGAGGGGCTAAA	0.438																																						uc001mqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(40-42)GAG>AAG		solute carrier family 17 (sodium-dependent							70.0	74.0	73.0					11																	22360119		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22360119G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.40G>A	11.37:g.22360119G>A	ENSP00000263160:p.Glu14Lys						p.E14K	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			1	453	+			14			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.40G>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226673	0.79576	.	.	ENSG00000091664	ENST00000263160	T	0.63255	-0.03	5.27	5.27	0.74061	.	0.049302	0.85682	D	0.000000	T	0.64713	0.2623	M	0.62723	1.935	0.58432	D	0.999993	P	0.35527	0.507	B	0.38327	0.271	T	0.65348	-0.6190	10	0.41790	T	0.15	.	18.9139	0.92496	0.0:0.0:1.0:0.0	.	14	Q9P2U8	VGLU2_HUMAN	K	14	ENSP00000263160:E14K	ENSP00000263160:E14K	E	+	1	0	SLC17A6	22316695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.465000	0.83290	0.655000	0.94253	GAG		PASS	0.438	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		15	33	15	33	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30032975	30032975	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:30032975G>A	ENST00000328224.6	-	2	2484	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	417					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.I417I(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)	TGCCCAGTGTGATGAAGTAAG	0.507																																						uc001msk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1249-1251)ATC>ATT		potassium voltage-gated channel, shaker-related							77.0	74.0	75.0					11																	30032975		2092	4255	6347	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032975G>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.1251C>T	11.37:g.30032975G>A							p.I417I	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2403	-			417			Helical; Name=Segment S3; (Potential).			Silent	SNP	ENST00000328224.6	37	c.1251C>T	CCDS41629.1																																																																																				PASS	0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		27	33	27	33	---	---	---	---
MPPED2	744	broad.mit.edu	37	11	30433031	30433031	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:30433031T>C	ENST00000358117.5	-	6	991	c.869A>G	c.(868-870)aAc>aGc	p.N290S	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	290					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N290S(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ACCCTGTGGGTTTGGAAGGTC	0.413																																						uc001msr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)AAC>AGC		metallophosphoesterase domain containing 2							114.0	97.0	103.0					11																	30433031		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30433031T>C	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.869A>G	11.37:g.30433031T>C	ENSP00000350833:p.Asn290Ser					MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.N164S	p.N290S	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			6	989	-			290					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.869A>G	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	T	9.385	1.074052	0.20147	.	.	ENSG00000066382	ENST00000358117	T	0.43688	0.94	5.74	5.74	0.90152	.	0.042575	0.85682	D	0.000000	T	0.35068	0.0919	L	0.51422	1.61	0.54753	D	0.999986	B	0.19445	0.036	B	0.10450	0.005	T	0.15292	-1.0442	10	0.11794	T	0.64	-18.7319	12.5705	0.56334	0.0:0.0:0.1757:0.8243	.	290	Q15777	MPPD2_HUMAN	S	290	ENSP00000350833:N290S	ENSP00000350833:N290S	N	-	2	0	MPPED2	30389607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.305000	0.65750	2.317000	0.78254	0.459000	0.35465	AAC		PASS	0.413	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		19	28	19	28	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30925158	30925158	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:30925158G>A	ENST00000597505.1	-	30	4380	c.4381C>T	c.(4381-4383)Cca>Tca	p.P1461S	DCDC1_ENST00000339794.5_Missense_Mutation_p.P540S|DCDC1_ENST00000406071.2_Missense_Mutation_p.P196S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.P540S(1)|p.P148T(1)|p.P148S(1)|p.P540T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTAAAGATTGGGGTTCCATCT	0.443																																						uc001mss.1																			4	Substitution - Missense(4)		lung(4)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							65.0	58.0	61.0					11																	30925158		2202	4298	6500	SO:0001583	missense	0							g.chr11:30925158G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4381C>T	11.37:g.30925158G>A	ENSP00000472625:p.Pro1461Ser					uc009yjk.1_Missense_Mutation_p.P909S|uc009yjj.1_RNA								10		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1484C>T		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.474361	0.01044	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.93488	-3.23;-3.23	5.53	-10.8	0.00216	Doublecortin domain (2);	1.362060	0.04512	N	0.383011	T	0.81039	0.4740	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.69669	-0.5083	10	0.11182	T	0.66	1.5282	3.2046	0.06661	0.164:0.3038:0.3745:0.1578	.	540	Q6ZRR9	DCDC5_HUMAN	S	196;540	ENSP00000385936:P196S;ENSP00000341700:P540S	ENSP00000341700:P540S	P	-	1	0	DCDC5	30881734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.326000	0.00637	-0.868000	0.02995	CCA		PASS	0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		7	11	7	11	---	---	---	---
CSTF3	1479	broad.mit.edu	37	11	33117897	33117897	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:33117897G>A	ENST00000323959.4	-	15	1469	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	444					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P444S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACATACTCTGGAATGTCTCCA	0.333																																						uc001muh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)CCA>TCA		cleavage stimulation factor subunit 3 isoform 1							69.0	76.0	73.0					11																	33117897		2202	4294	6496	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33117897G>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1330C>T	11.37:g.33117897G>A	ENSP00000315791:p.Pro444Ser					TCP11L1_uc001muf.1_Intron	p.P444S	NM_001326	NP_001317	Q12996	CSTF3_HUMAN			15	1496	-			444					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1330C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988814	0.93106	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35421	1.31	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.78049	2.395	0.80722	D	1	D	0.59357	0.985	D	0.63488	0.915	T	0.56848	-0.7911	10	0.36615	T	0.2	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	444	Q12996	CSTF3_HUMAN	S	444;377	ENSP00000315791:P444S	ENSP00000315791:P444S	P	-	1	0	CSTF3	33074473	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.564000	0.98151	2.805000	0.96524	0.460000	0.39030	CCA		PASS	0.333	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		4	18	4	18	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33566521	33566521	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:33566521G>A	ENST00000321505.4	+	2	2271	c.2091G>A	c.(2089-2091)aaG>aaA	p.K697K	KIAA1549L_ENST00000265654.5_Silent_p.K703K|KIAA1549L_ENST00000389726.3_Silent_p.K703K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	697						integral component of membrane (GO:0016021)		p.K703K(1)|p.K697K(1)									CTGGCCCAAAGAGGACACCAG	0.527																																						uc001mup.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2107-2109)AAG>AAA		hypothetical protein LOC25758							77.0	91.0	86.0					11																	33566521		2086	4188	6274	SO:0001819	synonymous_variant	25758					integral to membrane		g.chr11:33566521G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2091G>A	11.37:g.33566521G>A						C11orf41_uc001mun.1_Silent_p.K703K	p.K703K	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			2	2233	+			697					B0QYU0	Silent	SNP	ENST00000321505.4	37	c.2109G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.701075	0.00725	.	.	ENSG00000110427	ENST00000526400	.	.	.	4.32	3.4	0.38934	.	.	.	.	.	T	0.35335	0.0928	.	.	.	0.23758	N	0.996925	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	-6.7391	7.9683	0.30113	0.1123:0.0:0.8877:0.0	.	.	.	.	K	95	.	.	R	+	2	0	C11orf41	33523097	0.997000	0.39634	0.210000	0.23637	0.009000	0.06853	3.260000	0.51523	1.048000	0.40298	0.542000	0.68232	AGA		PASS	0.527	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		12	41	12	41	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34152386	34152386	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:34152386C>T	ENST00000257829.3	+	13	1477	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	NAT10_ENST00000531159.2_Missense_Mutation_p.S352F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	424						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.S424F(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CGGTCACTGTCCCTCAAGCTA	0.542																																						uc001mvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1270-1272)TCC>TTC		N-acetyltransferase 10 isoform a							112.0	105.0	107.0					11																	34152386		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34152386C>T	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1271C>T	11.37:g.34152386C>T	ENSP00000257829:p.Ser424Phe					NAT10_uc010ren.1_Missense_Mutation_p.S352F	p.S424F	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			13	1515	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	424					B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.1271C>T	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182952	0.94885	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.50001	0.76;0.76	5.53	5.53	0.82687	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86073	0.1539	10	0.87932	D	0	-23.5533	19.8251	0.96614	0.0:1.0:0.0:0.0	.	424	Q9H0A0	NAT10_HUMAN	F	424;352	ENSP00000257829:S424F;ENSP00000433011:S352F	ENSP00000257829:S424F	S	+	2	0	NAT10	34108962	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.563000	0.82314	2.763000	0.94921	0.561000	0.74099	TCC		PASS	0.542	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		9	34	9	34	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35308473	35308473	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:35308473G>A	ENST00000278379.3	-	8	1399	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	SLC1A2_ENST00000606205.1_Missense_Mutation_p.R373C|SLC1A2_ENST00000395753.1_Missense_Mutation_p.R364C|SLC1A2_ENST00000479543.1_5'Flank|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395750.1_Missense_Mutation_p.R364C	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	373					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T371fs*13(1)|p.R373C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCCAGGCAACGAAAGGTGACA	0.453																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.T371fs*13(1)	ovary(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1117-1119)CGT>TGT		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						136.0	133.0	134.0					11																	35308473		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308473G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1117C>T	11.37:g.35308473G>A	ENSP00000278379:p.Arg373Cys					SLC1A2_uc001mwe.2_Missense_Mutation_p.R364C|SLC1A2_uc010rev.1_Missense_Mutation_p.R373C	p.R373C	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1709	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	373					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1117C>T	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808512	0.90707	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.61040	0.14;0.14;0.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.77557	0.603;0.99	D	0.87493	0.2428	10	0.87932	D	0	-10.634	20.024	0.97514	0.0:0.0:1.0:0.0	.	373;373	B4DQE9;P43004	.;EAA2_HUMAN	C	373;364;364	ENSP00000278379:R373C;ENSP00000379099:R364C;ENSP00000379102:R364C	ENSP00000278379:R373C	R	-	1	0	SLC1A2	35265049	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.964000	0.87933	2.813000	0.96785	0.561000	0.74099	CGT		PASS	0.453	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		30	99	30	99	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313888	35313888	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:35313888G>A	ENST00000278379.3	-	7	1319	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	SLC1A2_ENST00000606205.1_Missense_Mutation_p.S346F|SLC1A2_ENST00000395753.1_Missense_Mutation_p.S337F|SLC1A2_ENST00000395750.1_Missense_Mutation_p.S337F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	346					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.S346F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			AGCAAAAAAGGAGAAGGGGTT	0.478																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1036-1038)TCC>TTC		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						192.0	197.0	195.0					11																	35313888		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313888G>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1037C>T	11.37:g.35313888G>A	ENSP00000278379:p.Ser346Phe					SLC1A2_uc001mwe.2_Missense_Mutation_p.S337F|SLC1A2_uc010rev.1_Missense_Mutation_p.S346F	p.S346F	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1629	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	346					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1037C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.69|16.69	3.191969|3.191969	0.58017|0.58017	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000531628|ENST00000278379;ENST00000395750;ENST00000395753	.|T;T;T	.|0.59502	.|0.26;0.26;0.26	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.277760	.|0.41294	.|D	.|0.000909	T|T	0.53270|0.53270	0.1786|0.1786	L|L	0.31752|0.31752	0.955|0.955	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B	.|0.39044	.|0.656;0.085	.|B;B	.|0.41619	.|0.361;0.197	T|T	0.56613|0.56613	-0.7950|-0.7950	5|10	.|0.54805	.|T	.|0.06	-10.6418|-10.6418	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|346;346	.|B4DQE9;P43004	.|.;EAA2_HUMAN	S|F	64|346;337;337	.|ENSP00000278379:S346F;ENSP00000379099:S337F;ENSP00000379102:S337F	.|ENSP00000278379:S346F	P|S	-|-	1|2	0|0	SLC1A2|SLC1A2	35270464|35270464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.501000|6.501000	0.73691|0.73691	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	CCT|TCC		PASS	0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		79	127	79	127	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36467879	36467879	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:36467879C>T	ENST00000378867.3	+	8	829	c.474C>T	c.(472-474)tcC>tcT	p.S158S	PRR5L_ENST00000530639.1_Silent_p.S158S|PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000527487.1_Silent_p.S158S|PRR5L_ENST00000389693.3_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	158					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.S158S(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GCCAGATCTCCCTGCTGGGCT	0.607																																						uc001mwo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)TCC>TCT		protor-2 isoform a							63.0	56.0	58.0					11																	36467879		2202	4298	6500	SO:0001819	synonymous_variant	79899							g.chr11:36467879C>T		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.474C>T	11.37:g.36467879C>T						PRR5L_uc001mwp.2_Silent_p.S158S|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Silent_p.S158S	p.S158S	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN			7	863	+			158					A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	ENST00000378867.3	37	c.474C>T	CCDS31463.1																																																																																				PASS	0.607	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		11	22	11	22	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45203363	45203363	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:45203363G>C	ENST00000530656.1	+	2	148	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	PRDM11_ENST00000263765.4_Missense_Mutation_p.V50L|PRDM11_ENST00000424263.2_Missense_Mutation_p.V16L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	50							methyltransferase activity (GO:0008168)	p.V50L(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAATGCAGCCGTGGGGGATAT	0.592																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(148-150)GTG>CTG		PR domain containing 11							96.0	82.0	87.0					11																	45203363		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45203363G>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.148G>C	11.37:g.45203363G>C	ENSP00000435976:p.Val50Leu						p.V50L	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			3	397	+			50					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.148G>C		.	.	.	.	.	.	.	.	.	.	G	12.88	2.069909	0.36566	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.28	3.06	0.35304	.	0.336035	0.25639	N	0.029290	T	0.13586	0.0329	N	0.02011	-0.69	0.27553	N	0.95044	B	0.12630	0.006	B	0.08055	0.003	T	0.07888	-1.0749	10	0.27785	T	0.31	-11.16	2.5042	0.04641	0.3051:0.0:0.4445:0.2504	.	50	Q9NQV5	PRD11_HUMAN	L	50;50;16;16	ENSP00000263765:V50L;ENSP00000435976:V50L;ENSP00000431898:V16L;ENSP00000394314:V16L	ENSP00000263765:V50L	V	+	1	0	PRDM11	45159939	0.805000	0.28982	0.831000	0.32960	0.938000	0.57974	0.999000	0.29757	1.145000	0.42336	0.491000	0.48974	GTG		PASS	0.592	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		13	43	13	43	---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45672150	45672150	+	Silent	SNP	C	C	T	rs372430504		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:45672150C>T	ENST00000308064.2	-	4	994	c.324G>A	c.(322-324)aaG>aaA	p.K108K	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	108					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.K108K(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGCCGGGCTCTTGCCCTGGG	0.637																																						uc001mys.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|pancreas(1)	5						c.(322-324)AAG>AAA		carbohydrate (keratan sulfate Gal-6)		C		0,4406		0,0,2203	41.0	51.0	47.0		324	2.9	1.0	11		47	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	CHST1	NM_003654.5		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		108/412	45672150	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45672150C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.324G>A	11.37:g.45672150C>T							p.K108K	NM_003654	NP_003645	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	995	-			108			Lumenal (Potential).		D3DQP2	Silent	SNP	ENST00000308064.2	37	c.324G>A	CCDS7913.1																																																																																				PASS	0.637	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		8	22	8	22	---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46407137	46407137	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:46407137G>A	ENST00000433765.2	-	1	970	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	324					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.P324L(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)	GGGAGGGGCGGGCATGGCGGG	0.622																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)CCC>CTC		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)						91.0	109.0	103.0					11																	46407137		2099	4199	6298	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407137G>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.971C>T	11.37:g.46407137G>A	ENSP00000409378:p.Pro324Leu						p.P324L	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	971	-			324			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.971C>T	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	g	3.540	-0.093880	0.07053	.	.	ENSG00000180720	ENST00000433765	T	0.59364	0.27	3.43	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38904	0.1058	N	0.19112	0.55	0.32127	N	0.587306	B	0.15473	0.013	B	0.17098	0.017	T	0.38887	-0.9640	9	0.25106	T	0.35	-4.2629	8.2987	0.32001	0.0:0.0:0.7641:0.2359	.	324	P08173	ACM4_HUMAN	L	324	ENSP00000409378:P324L	ENSP00000409378:P324L	P	-	2	0	CHRM4	46363713	0.989000	0.36119	0.287000	0.24848	0.579000	0.36224	0.923000	0.28757	2.225000	0.72522	0.457000	0.33378	CCC		PASS	0.622	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		15	38	15	38	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47297704	47297704	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:47297704G>A	ENST00000311027.5	+	4	1079	c.914G>A	c.(913-915)gGt>gAt	p.G305D	MADD_ENST00000349238.3_Missense_Mutation_p.G305D|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G305D|MADD_ENST00000395336.3_Missense_Mutation_p.G305D|MADD_ENST00000402799.1_Missense_Mutation_p.G305D|MADD_ENST00000402192.2_Missense_Mutation_p.G305D|MADD_ENST00000407859.3_Missense_Mutation_p.G305D|MADD_ENST00000406482.1_Missense_Mutation_p.G305D|MADD_ENST00000342922.4_Missense_Mutation_p.G305D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.G305D(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAACTTCTAGGTGTGGACGCC	0.517																																						uc001ner.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(913-915)GGT>GAT		MAP-kinase activating death domain-containing							95.0	78.0	84.0					11																	47297704		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47297704G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.914G>A	11.37:g.47297704G>A	ENSP00000310933:p.Gly305Asp					MADD_uc001neq.2_Missense_Mutation_p.G305D|MADD_uc001nev.1_Missense_Mutation_p.G305D|MADD_uc001nes.1_Missense_Mutation_p.G305D|MADD_uc001net.1_Missense_Mutation_p.G305D|MADD_uc009yln.1_Missense_Mutation_p.G305D|MADD_uc001neu.1_Missense_Mutation_p.G305D|MADD_uc001nex.2_Missense_Mutation_p.G305D|MADD_uc001nez.2_Missense_Mutation_p.G305D|MADD_uc001new.2_Missense_Mutation_p.G305D	p.G305D	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	4	1105	+			305			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.914G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444974	0.96187	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.75	5.75	0.90469	DENN (3);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.73753	2.245	0.80722	D	1	D;P;D;P;P;D;D;D;D;D	0.89917	1.0;0.895;1.0;0.908;0.946;0.958;0.958;1.0;1.0;1.0	D;P;D;P;P;D;D;D;D;D	0.97110	1.0;0.866;1.0;0.888;0.888;0.942;0.942;1.0;1.0;1.0	T	0.15521	-1.0434	10	0.66056	D	0.02	-17.3302	19.9598	0.97242	0.0:0.0:1.0:0.0	.	305;305;305;305;305;305;305;305;305;305	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	D	305;305;83;305;305;305;305;305;305;305;305	ENSP00000343902:G305D;ENSP00000398167:G83D;ENSP00000385585:G305D;ENSP00000384435:G305D;ENSP00000304505:G305D;ENSP00000310933:G305D;ENSP00000384204:G305D;ENSP00000378753:G305D;ENSP00000378745:G305D;ENSP00000384287:G305D	ENSP00000310933:G305D	G	+	2	0	MADD	47254280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	GGT		PASS	0.517	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			12	17	12	17	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47306552	47306553	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:47306552_47306553CC>TT	ENST00000311027.5	+	13	2383_2384	c.2218_2219CC>TT	c.(2218-2220)CCt>TTt	p.P740F	MADD_ENST00000349238.3_Missense_Mutation_p.P740F|MADD_ENST00000395344.3_Missense_Mutation_p.P740F|MADD_ENST00000395336.3_Missense_Mutation_p.P740F|MADD_ENST00000402799.1_Missense_Mutation_p.P740F|MADD_ENST00000402192.2_Missense_Mutation_p.P740F|MADD_ENST00000407859.3_Missense_Mutation_p.P740F|MADD_ENST00000406482.1_Missense_Mutation_p.P740F|MADD_ENST00000342922.4_Missense_Mutation_p.P740F	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.P740S(1)|p.P740L(1)|p.P740F(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAGCCCCTCCCTTCCGTGCCT	0.54																																						uc001ner.1																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2218-2220)CCT>TCT|c.(2218-2220)CCT>CTT		MAP-kinase activating death domain-containing																																				SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47306552C>T|g.chr11:47306553C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	Exception_encountered	11.37:g.47306552_47306553delinsTT	ENSP00000310933:p.Pro740Phe					MADD_uc001neq.2_Missense_Mutation_p.P740S|MADD_uc001nev.1_Missense_Mutation_p.P740S|MADD_uc001nes.1_Missense_Mutation_p.P740S|MADD_uc001net.1_Missense_Mutation_p.P740S|MADD_uc009yln.1_Missense_Mutation_p.P740S|MADD_uc001neu.1_Missense_Mutation_p.P740S|MADD_uc001nex.2_Missense_Mutation_p.P740S|MADD_uc001nez.2_Missense_Mutation_p.P740S|MADD_uc001new.2_Missense_Mutation_p.P740S|MADD_uc001neq.2_Missense_Mutation_p.P740L|MADD_uc001nev.1_Missense_Mutation_p.P740L|MADD_uc001nes.1_Missense_Mutation_p.P740L|MADD_uc001net.1_Missense_Mutation_p.P740L|MADD_uc009yln.1_Missense_Mutation_p.P740L|MADD_uc001neu.1_Missense_Mutation_p.P740L|MADD_uc001nex.2_Missense_Mutation_p.P740L|MADD_uc001nez.2_Missense_Mutation_p.P740L|MADD_uc001new.2_Missense_Mutation_p.P740L	p.P740S|p.P740L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	13	2409|2410	+			740						Missense_Mutation	SNP	ENST00000311027.5	37	c.2218C>T|c.2219C>T	CCDS7930.1																																																																																				PASS	0.540	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			13	24|28	13	24	---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47446030	47446030	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:47446030G>A	ENST00000298852.3	-	5	560	c.403C>T	c.(403-405)Cct>Tct	p.P135S	PSMC3_ENST00000602866.1_Missense_Mutation_p.P119S|PSMC3_ENST00000530912.1_Missense_Mutation_p.P93S	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	135					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)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P135S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAATCACAGGAAGGAAGTAC	0.572																																						uc001nfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(403-405)CCT>TCT		proteasome 26S ATPase subunit 3							85.0	74.0	78.0					11																	47446030		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446030G>A	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.403C>T	11.37:g.47446030G>A	ENSP00000298852:p.Pro135Ser					PSMC3_uc009ylr.1_Missense_Mutation_p.P93S	p.P135S	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	5	597	-			135					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.403C>T	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577670	0.86645	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653	D;D	0.94457	-3.43;-3.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.94218	0.8144	M	0.62154	1.92	0.80722	D	1	B;P	0.51057	0.151;0.941	B;P	0.45794	0.099;0.493	D	0.93657	0.6978	10	0.38643	T	0.18	-6.7595	18.9274	0.92550	0.0:0.0:1.0:0.0	.	93;135	E9PM69;P17980	.;PRS6A_HUMAN	S	135;93;100;100;100;100;143;119	ENSP00000298852:P135S;ENSP00000433097:P93S	ENSP00000298852:P135S	P	-	1	0	PSMC3	47402606	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.177000	0.94849	2.450000	0.82876	0.655000	0.94253	CCT		PASS	0.572	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		13	19	13	19	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47834527	47834527	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:47834527T>C	ENST00000378460.2	-	15	1905	c.1859A>G	c.(1858-1860)gAt>gGt	p.D620G	NUP160_ENST00000530326.1_Missense_Mutation_p.D506G|NUP160_ENST00000528501.1_Missense_Mutation_p.D184G|NUP160_ENST00000528071.1_Missense_Mutation_p.D506G|NUP160_ENST00000531016.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	620					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.D620G(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AACTGACATATCCACAGTTAC	0.383																																						uc001ngm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1858-1860)GAT>GGT		nucleoporin 160kDa							84.0	81.0	82.0					11																	47834527		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47834527T>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1859A>G	11.37:g.47834527T>C	ENSP00000367721:p.Asp620Gly					NUP160_uc009ylw.2_RNA	p.D620G	NM_015231	NP_056046	Q12769	NU160_HUMAN			15	1944	-			620					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.1859A>G	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717778	0.48622	.	.	ENSG00000030066	ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071;ENST00000528501	T;T;T	0.51071	1.3;0.72;0.72	5.32	5.32	0.75619	.	0.191116	0.45126	D	0.000388	T	0.35189	0.0923	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09975	-1.0650	10	0.26408	T	0.33	.	15.5737	0.76359	0.0:0.0:0.0:1.0	.	620	Q12769	NU160_HUMAN	G	620;410;506;506;184	ENSP00000367721:D620G;ENSP00000433590:D506G;ENSP00000432367:D506G	ENSP00000367721:D620G	D	-	2	0	NUP160	47791103	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.305000	0.65750	2.132000	0.65825	0.528000	0.53228	GAT		PASS	0.383	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		19	35	19	35	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346768	48346768	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:48346768C>T	ENST00000319856.4	+	1	297	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S92S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCAACCTATCCTTTATTGACA	0.473																																						uc010rhv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(274-276)TCC>TCT		olfactory receptor, family 4, subfamily C,							150.0	135.0	140.0					11																	48346768		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346768C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.276C>T	11.37:g.48346768C>T							p.S92S	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	276	+			65			Helical; Name=2; (Potential).		B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.276C>T	CCDS31489.1																																																																																				PASS	0.473	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		4	51	4	51	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48511133	48511133	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:48511133C>T	ENST00000446524.1	+	1	865	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F263F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTAGGACCTTCCCCATTGACA	0.428																																						uc010rhx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(787-789)TTC>TTT		olfactory receptor, family 4, subfamily A,							223.0	216.0	218.0					11																	48511133		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511133C>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.789C>T	11.37:g.48511133C>T							p.F263F	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	789	+			263			Extracellular (Potential).			Silent	SNP	ENST00000446524.1	37	c.789C>T	CCDS31490.1																																																																																				PASS	0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		31	111	31	111	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111342	55111342	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55111342C>T	ENST00000314721.2	+	1	716	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F222F(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						TCCTAAACTTCCTTAAAACTT	0.423																																						uc010rie.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(664-666)TTC>TTT		olfactory receptor, family 4, subfamily A,							164.0	153.0	157.0					11																	55111342		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111342C>T	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.666C>T	11.37:g.55111342C>T							p.F222F	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	666	+			222			Cytoplasmic (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.666C>T	CCDS31499.1																																																																																				PASS	0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	44	10	44	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135728	55135728	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55135728G>T	ENST00000314706.3	+	1	369	c.369G>T	c.(367-369)caG>caT	p.Q123H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q123H(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTTCCTTTCAGGGTTGTATGG	0.398																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(367-369)CAG>CAT		olfactory receptor, family 4, subfamily A,							155.0	154.0	154.0					11																	55135728		2200	4294	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135728G>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.369G>T	11.37:g.55135728G>T	ENSP00000325065:p.Gln123His						p.Q123H	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	369	+			123			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.369G>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	0.083	-1.180522	0.01633	.	.	ENSG00000181958	ENST00000314706	T	0.00397	7.57	3.48	-6.96	0.01622	GPCR, rhodopsin-like superfamily (1);	0.815656	0.10487	N	0.668822	T	0.00144	0.0004	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.42189	-0.9466	10	0.45353	T	0.12	.	0.8427	0.01154	0.4138:0.1931:0.1997:0.1934	.	123	Q8NGL6	O4A15_HUMAN	H	123	ENSP00000325065:Q123H	ENSP00000325065:Q123H	Q	+	3	2	OR4A15	54892304	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-6.139000	0.00079	-2.533000	0.00490	-0.387000	0.06579	CAG		PASS	0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		5	84	5	84	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433044	55433044	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55433044G>C	ENST00000314259.3	+	1	431	c.402G>C	c.(400-402)atG>atC	p.M134I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M134I(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						CGATCATCATGAGTCCACGGG	0.517																																						uc001nht.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(400-402)ATG>ATC		olfactory receptor, family 4, subfamily C,							102.0	95.0	98.0					11																	55433044		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433044G>C	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.402G>C	11.37:g.55433044G>C	ENSP00000324769:p.Met134Ile					OR4C6_uc010rik.1_Missense_Mutation_p.M134I	p.M134I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	667	+			134			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.402G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106000	0.37145	.	.	ENSG00000181903	ENST00000314259	T	0.00551	6.65	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.179048	0.27549	N	0.018865	T	0.00936	0.0031	M	0.79343	2.45	0.28162	N	0.928947	B	0.20671	0.047	B	0.23275	0.045	T	0.15065	-1.0450	10	0.72032	D	0.01	.	14.3385	0.66608	0.0:0.0:1.0:0.0	.	134	Q8NH72	OR4C6_HUMAN	I	134	ENSP00000324769:M134I	ENSP00000324769:M134I	M	+	3	0	OR4C6	55189620	1.000000	0.71417	0.476000	0.27291	0.552000	0.35366	5.873000	0.69644	1.693000	0.51124	0.536000	0.68110	ATG		PASS	0.517	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		17	31	17	31	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541798	55541798	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55541798G>A	ENST00000361760.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R295R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGCCTTAGGAACAAAGATA	0.348																																						uc010ril.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(883-885)AGG>AGA		olfactory receptor, family 5, subfamily D,							64.0	59.0	60.0					11																	55541798		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541798G>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.885G>A	11.37:g.55541798G>A							p.R295R	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	885	+		all_epithelial(135;0.196)	295			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.885G>A	CCDS31507.1																																																																																				PASS	0.348	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		4	27	4	27	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55594965	55594965	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55594965G>A	ENST00000378397.1	+	1	271	c.271G>A	c.(271-273)Gcc>Acc	p.A91T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A91T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CAAGGACAAAGCCATCTCCTT	0.463										HNSCC(27;0.073)																												uc001nhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)GCC>ACC		olfactory receptor, family 5, subfamily L,							202.0	190.0	194.0					11																	55594965		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594965G>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.271G>A	11.37:g.55594965G>A	ENSP00000367650:p.Ala91Thr	HNSCC(27;0.073)					p.A91T	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	271	+		all_epithelial(135;0.208)	91			Extracellular (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.271G>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	0.150	-1.092451	0.01858	.	.	ENSG00000205030	ENST00000378397	T	0.01113	5.32	5.21	-4.85	0.03142	GPCR, rhodopsin-like superfamily (1);	1.280730	0.05354	N	0.532408	T	0.00384	0.0012	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.46541	-0.9184	10	0.02654	T	1	-1.6022	5.4008	0.16295	0.473:0.0:0.2951:0.2319	.	91	Q8NGL0	OR5L2_HUMAN	T	91	ENSP00000367650:A91T	ENSP00000367650:A91T	A	+	1	0	OR5L2	55351541	0.000000	0.05858	0.048000	0.18961	0.609000	0.37215	-2.846000	0.00735	-0.880000	0.03997	-0.333000	0.08304	GCC		PASS	0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		60	60	60	60	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703698	55703698	+	Missense_Mutation	SNP	G	G	A	rs201255553	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55703698G>A	ENST00000301532.3	-	1	178	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	60					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAATACATGGGGGTTTGAAG	0.388													g|||	2	0.000399361	0.0	0.0029	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.0					uc010ris.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(178-180)CCC>CTC		olfactory receptor, family 5, subfamily I,		A	LEU/PRO	0,4398		0,0,2199	62.0	62.0	62.0		179	4.1	0.9	11		62	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR5I1	NM_006637.1	98	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	60/315	55703698	1,12989	2199	4296	6495	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703698G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.179C>T	11.37:g.55703698G>A	ENSP00000301532:p.Pro60Leu						p.P60L	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	179	-			60			Helical; Name=2; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.179C>T	CCDS7949.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	g	21.2	4.107168	0.77096	0.0	1.16E-4	ENSG00000167825	ENST00000301532	T	0.02032	4.49	5.05	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.145674	0.32134	N	0.006534	T	0.11110	0.0271	M	0.90922	3.16	0.47698	D	0.999499	D	0.89917	1.0	D	0.85130	0.997	T	0.00561	-1.1670	10	0.87932	D	0	.	11.9844	0.53138	0.0857:0.0:0.9143:0.0	.	60	Q13606	OR5I1_HUMAN	L	60	ENSP00000301532:P60L	ENSP00000301532:P60L	P	-	2	0	OR5I1	55460274	1.000000	0.71417	0.924000	0.36721	0.965000	0.64279	5.927000	0.70080	1.258000	0.44101	-0.150000	0.13652	CCC		PASS	0.388	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	28	11	28	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55735698C>T	ENST00000312345.2	-	1	292	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G81E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383																																						uc010rit.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(241-243)GGA>GAA		olfactory receptor, family 10, subfamily AG,							78.0	84.0	82.0					11																	55735698		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735698C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.242G>A	11.37:g.55735698C>T	ENSP00000311477:p.Gly81Glu						p.G81E	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	242	-	Esophageal squamous(21;0.0137)		81			Extracellular (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.242G>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167527	0.09339	.	.	ENSG00000174970	ENST00000312345	T	0.37058	1.22	5.47	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.393743	0.22088	N	0.064790	T	0.29524	0.0736	L	0.45581	1.43	0.09310	N	1	B	0.16396	0.017	B	0.19946	0.027	T	0.29852	-0.9998	10	0.87932	D	0	.	7.72	0.28727	0.0:0.7171:0.1494:0.1335	.	81	Q8NH19	O10AG_HUMAN	E	81	ENSP00000311477:G81E	ENSP00000311477:G81E	G	-	2	0	OR10AG1	55492274	0.001000	0.12720	0.006000	0.13384	0.081000	0.17604	0.467000	0.22035	1.345000	0.45676	0.477000	0.44152	GGA		PASS	0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		23	35	23	35	---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735766	55735766	+	Silent	SNP	G	G	A	rs374340251		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55735766G>A	ENST00000312345.2	-	1	224	c.174C>T	c.(172-174)tcC>tcT	p.S58S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S58S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTCCAAAAGGGAAAAATTGC	0.348																																						uc010rit.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(172-174)TCC>TCT		olfactory receptor, family 10, subfamily AG,							57.0	65.0	63.0					11																	55735766		2200	4296	6496	SO:0001819	synonymous_variant	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735766G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.174C>T	11.37:g.55735766G>A							p.S58S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	174	-	Esophageal squamous(21;0.0137)		58			Helical; Name=2; (Potential).		B2RNH4|Q6IEU3	Silent	SNP	ENST00000312345.2	37	c.174C>T	CCDS31514.1																																																																																				PASS	0.348	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		11	50	11	50	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798016	55798016	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55798016G>A	ENST00000313555.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41E(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACTATGGTCGGAAATATACTC	0.328																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(121-123)GGA>GAA		olfactory receptor, family 5, subfamily AS,							62.0	66.0	64.0					11																	55798016		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798016G>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.122G>A	11.37:g.55798016G>A	ENSP00000324111:p.Gly41Glu						p.G41E	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	122	+	Esophageal squamous(21;0.00693)		41			Helical; Name=1; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.122G>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368742	0.42003	.	.	ENSG00000181785	ENST00000313555	T	0.04360	3.64	5.74	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34200	U	0.004162	T	0.08626	0.0214	L	0.49640	1.575	0.30467	N	0.773653	D	0.53619	0.961	P	0.44732	0.459	T	0.01424	-1.1358	10	0.72032	D	0.01	.	15.5586	0.76219	0.0:0.1385:0.8615:0.0	.	41	Q8N127	O5AS1_HUMAN	E	41	ENSP00000324111:G41E	ENSP00000324111:G41E	G	+	2	0	OR5AS1	55554592	0.996000	0.38824	0.892000	0.35008	0.105000	0.19272	1.668000	0.37481	1.409000	0.46915	0.643000	0.83706	GGA		PASS	0.328	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		11	28	11	28	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861208	55861208	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55861208A>G	ENST00000302124.2	+	1	456	c.425A>G	c.(424-426)aAc>aGc	p.N142S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N142S(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAAGTGTCCAACTGGCTGGGA	0.448																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(424-426)AAC>AGC		olfactory receptor, family 8, subfamily I,							148.0	135.0	139.0					11																	55861208		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861208A>G	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.425A>G	11.37:g.55861208A>G	ENSP00000303864:p.Asn142Ser						p.N142S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	425	+	Esophageal squamous(21;0.00693)		142			Helical; Name=4; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.425A>G	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.479813	0.01035	.	.	ENSG00000172154	ENST00000302124	T	0.36157	1.27	4.5	-9.0	0.00747	GPCR, rhodopsin-like superfamily (1);	0.756238	0.11172	N	0.591905	T	0.05914	0.0154	N	0.01091	-1.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.05351	T	0.99	-1.5944	1.2014	0.01886	0.1402:0.1991:0.2542:0.4064	.	142	Q8N0Y5	OR8I2_HUMAN	S	142	ENSP00000303864:N142S	ENSP00000303864:N142S	N	+	2	0	OR8I2	55617784	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-2.403000	0.01046	-1.437000	0.01967	0.362000	0.22060	AAC		PASS	0.448	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		16	45	16	45	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861587	55861587	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55861587C>T	ENST00000302124.2	+	1	835	c.804C>T	c.(802-804)acC>acT	p.T268T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T268T(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CATCGCTGACCCAGGCGCAGG	0.458																																						uc010rix.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(802-804)ACC>ACT		olfactory receptor, family 8, subfamily I,							97.0	94.0	95.0					11																	55861587		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861587C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.804C>T	11.37:g.55861587C>T							p.T268T	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	804	+	Esophageal squamous(21;0.00693)		268			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.804C>T	CCDS31517.1																																																																																				PASS	0.458	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		8	59	8	59	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861617	55861617	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55861617G>A	ENST00000302124.2	+	1	865	c.834G>A	c.(832-834)acG>acA	p.T278T		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T278T(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TATTCTATACGATTGTCATTC	0.413																																						uc010rix.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(832-834)ACG>ACA		olfactory receptor, family 8, subfamily I,							60.0	59.0	60.0					11																	55861617		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861617G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.834G>A	11.37:g.55861617G>A							p.T278T	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	834	+	Esophageal squamous(21;0.00693)		278			Helical; Name=7; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.834G>A	CCDS31517.1																																																																																				PASS	0.413	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		22	19	22	19	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872687	55872687	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55872687C>T	ENST00000313503.1	+	1	169	c.169C>T	c.(169-171)Cac>Tac	p.H57Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H57Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCTCCAGCTTCACACTCCCAT	0.423										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)CAC>TAC		olfactory receptor, family 8, subfamily H,							264.0	239.0	248.0					11																	55872687		2201	4293	6494	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872687C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.169C>T	11.37:g.55872687C>T	ENSP00000323982:p.His57Tyr	HNSCC(53;0.14)					p.H57Y	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	169	+	Esophageal squamous(21;0.00693)		57			Helical; Name=2; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.169C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.172220	0.38315	.	.	ENSG00000181767	ENST00000313503	T	0.15952	2.38	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.42517	0.1206	M	0.90542	3.125	0.30664	N	0.754128	D	0.76494	0.999	D	0.70487	0.969	T	0.51108	-0.8747	10	0.87932	D	0	.	6.5232	0.22287	0.1797:0.7187:0.0:0.1016	.	57	Q8N162	OR8H2_HUMAN	Y	57	ENSP00000323982:H57Y	ENSP00000323982:H57Y	H	+	1	0	OR8H2	55629263	0.976000	0.34144	0.954000	0.39281	0.234000	0.25298	2.543000	0.45752	1.952000	0.56665	0.440000	0.28878	CAC		PASS	0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		33	141	33	141	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872882	55872882	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55872882C>T	ENST00000313503.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCCCATGATCGCTATGCAGC	0.458										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(364-366)CGC>TGC		olfactory receptor, family 8, subfamily H,							187.0	189.0	188.0					11																	55872882		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872882C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.364C>T	11.37:g.55872882C>T	ENSP00000323982:p.Arg122Cys	HNSCC(53;0.14)					p.R122C	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.364C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	9.572	1.121373	0.20877	.	.	ENSG00000181767	ENST00000313503	T	0.77358	-1.09	3.35	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.249486	0.28889	N	0.013810	T	0.75925	0.3916	M	0.88450	2.955	0.39853	D	0.973263	P	0.46395	0.877	B	0.37304	0.246	T	0.76107	-0.3080	10	0.72032	D	0.01	.	8.2136	0.31499	0.1544:0.7578:0.0:0.0878	.	122	Q8N162	OR8H2_HUMAN	C	122	ENSP00000323982:R122C	ENSP00000323982:R122C	R	+	1	0	OR8H2	55629458	0.832000	0.29368	0.810000	0.32431	0.020000	0.10135	1.600000	0.36762	0.195000	0.20347	0.440000	0.28878	CGC		PASS	0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		35	127	35	127	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873182	55873182	+	Missense_Mutation	SNP	C	C	T	rs150100978		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55873182C>T	ENST00000313503.1	+	1	664	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L222F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGTTCATTCTCTTTACCAT	0.403										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)CTC>TTC		olfactory receptor, family 8, subfamily H,		C	PHE/LEU	0,4402		0,0,2201	153.0	143.0	146.0		664	1.6	0.0	11	dbSNP_134	146	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR8H2	NM_001005200.1	22	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	222/313	55873182	1,12993	2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873182C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.664C>T	11.37:g.55873182C>T	ENSP00000323982:p.Leu222Phe	HNSCC(53;0.14)					p.L222F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	664	+	Esophageal squamous(21;0.00693)		222			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.664C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	2.721	-0.266490	0.05754	0.0	1.16E-4	ENSG00000181767	ENST00000313503	T	0.00123	8.7	3.58	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.153773	0.30979	N	0.008493	T	0.00109	0.0003	N	0.17345	0.48	0.09310	N	1	P	0.35944	0.529	P	0.46585	0.521	T	0.11179	-1.0598	10	0.08837	T	0.75	.	1.9265	0.03318	0.1621:0.4911:0.1582:0.1887	.	222	Q8N162	OR8H2_HUMAN	F	222	ENSP00000323982:L222F	ENSP00000323982:L222F	L	+	1	0	OR8H2	55629758	0.000000	0.05858	0.008000	0.14137	0.025000	0.11179	-1.168000	0.03123	0.257000	0.21650	0.440000	0.28878	CTC		PASS	0.403	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		15	70	15	70	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904562	55904562	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:55904562C>T	ENST00000301529.1	-	1	632	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAACTGTAATCATGGAAAAAA	0.358																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(631-633)ATG>ATA		olfactory receptor, family 8, subfamily J,							95.0	98.0	97.0					11																	55904562		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904562C>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.633G>A	11.37:g.55904562C>T	ENSP00000301529:p.Met211Ile						p.M211I	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	633	-	Esophageal squamous(21;0.00693)		211			Helical; Name=5; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.633G>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	6.062	0.379693	0.11466	.	.	ENSG00000167822	ENST00000301529	T	0.36340	1.26	3.27	-4.6	0.03390	GPCR, rhodopsin-like superfamily (1);	0.538666	0.19959	N	0.102250	T	0.07234	0.0183	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.27905	-1.0060	10	0.17369	T	0.5	.	2.1796	0.03871	0.1125:0.2144:0.3676:0.3055	.	211	Q8NGG0	OR8J3_HUMAN	I	211	ENSP00000301529:M211I	ENSP00000301529:M211I	M	-	3	0	OR8J3	55661138	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	-3.817000	0.00359	-0.716000	0.04962	0.297000	0.19635	ATG		PASS	0.358	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		23	34	23	34	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000184	56000184	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56000184C>T	ENST00000313264.4	-	1	553	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D160N(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATAGCGATCATAAGCCATT	0.428																																						uc010rjc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(478-480)GAT>AAT		olfactory receptor, family 5, subfamily T,							188.0	158.0	168.0					11																	56000184		2201	4294	6495	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000184C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.478G>A	11.37:g.56000184C>T	ENSP00000323688:p.Asp160Asn						p.D160N	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	478	-	Esophageal squamous(21;0.00448)		160			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.478G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340659	0.95783	.	.	ENSG00000181718	ENST00000313264	T	0.02140	4.43	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	U	0.000602	T	0.18964	0.0455	M	0.93062	3.375	0.48830	D	0.999716	D	0.71674	0.998	D	0.74674	0.984	T	0.04041	-1.0982	10	0.72032	D	0.01	.	18.4134	0.90559	0.0:1.0:0.0:0.0	.	160	Q8NGG2	OR5T2_HUMAN	N	160	ENSP00000323688:D160N	ENSP00000323688:D160N	D	-	1	0	OR5T2	55756760	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.184000	0.77705	2.520000	0.84964	0.471000	0.43371	GAT		PASS	0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		16	63	16	63	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020020	56020020	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56020020C>T	ENST00000303059.3	+	1	345	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F115F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGTCAATTTCCTGGCAAAAA	0.363																																						uc010rjd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)TTC>TTT		olfactory receptor, family 5, subfamily T,							135.0	136.0	135.0					11																	56020020		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020020C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.345C>T	11.37:g.56020020C>T							p.F115F	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	345	+	Esophageal squamous(21;0.00448)		115			Extracellular (Potential).		Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.345C>T	CCDS31524.1																																																																																				PASS	0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		22	30	22	30	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043953	56043953	+	Missense_Mutation	SNP	C	C	T	rs149057096	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56043953C>T	ENST00000313033.2	+	1	925	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S280L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCTACACTTCGGACAATGAC	0.408																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(838-840)TCG>TTG		olfactory receptor, family 5, subfamily T,		C	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	216.0	186.0	196.0		839	0.7	0.0	11	dbSNP_134	196	2,8590	2.2+/-6.3	0,2,4294	yes	missense	OR5T1	NM_001004745.1	145	0,3,6494	TT,TC,CC		0.0233,0.0227,0.0231	benign	280/327	56043953	3,12991	2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043953C>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.839C>T	11.37:g.56043953C>T	ENSP00000323612:p.Ser280Leu						p.S280L	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	839	+	Esophageal squamous(21;0.00448)		280			Extracellular (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.839C>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.522068	0.00967	2.27E-4	2.33E-4	ENSG00000181698	ENST00000313033	T	0.00123	8.7	3.48	0.724	0.18236	GPCR, rhodopsin-like superfamily (1);	0.878704	0.09098	N	0.848980	T	0.00039	0.0001	N	0.00686	-1.255	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12578	-1.0542	10	0.02654	T	1	.	6.4595	0.21948	0.0:0.2281:0.0:0.7719	.	280	Q8NG75	OR5T1_HUMAN	L	280	ENSP00000323612:S280L	ENSP00000323612:S280L	S	+	2	0	OR5T1	55800529	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.140000	0.03210	0.086000	0.17137	-0.744000	0.03518	TCG		PASS	0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		44	73	44	73	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086200	56086200	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56086200G>A	ENST00000312711.1	+	1	418	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V140I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTCACGAAGGGTATGTCAGGT	0.418																																						uc010rjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(418-420)GTA>ATA		olfactory receptor, family 8, subfamily K,							122.0	118.0	119.0					11																	56086200		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086200G>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.418G>A	11.37:g.56086200G>A	ENSP00000323555:p.Val140Ile						p.V140I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	418	+	Esophageal squamous(21;0.00448)		140			Helical; Name=4; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.418G>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	2.550	-0.304294	0.05495	.	.	ENSG00000181689	ENST00000312711	T	0.00152	8.66	4.56	-5.67	0.02444	GPCR, rhodopsin-like superfamily (1);	0.780152	0.11256	N	0.583082	T	0.00109	0.0003	L	0.39633	1.23	0.09310	N	1	B	0.17852	0.024	B	0.24006	0.05	T	0.08617	-1.0713	10	0.27785	T	0.31	.	12.0281	0.53382	0.0:0.4781:0.2167:0.3052	.	140	Q8NH51	OR8K3_HUMAN	I	140	ENSP00000323555:V140I	ENSP00000323555:V140I	V	+	1	0	OR8K3	55842776	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.064000	0.03461	-1.208000	0.02634	-0.312000	0.09012	GTA		PASS	0.418	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		21	42	21	42	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113718	56113718	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56113718C>T	ENST00000279783.2	+	1	298	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F68F(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTACTTTTTCCTTAGACATT	0.408										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(202-204)TTC>TTT		olfactory receptor, family 8, subfamily K,							163.0	150.0	154.0					11																	56113718		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113718C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.204C>T	11.37:g.56113718C>T		HNSCC(65;0.19)					p.F68F	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	204	+	Esophageal squamous(21;0.00448)		68			Helical; Name=2; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.204C>T	CCDS31528.1																																																																																				PASS	0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		17	62	17	62	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56114182	56114182	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56114182C>T	ENST00000279783.2	+	1	762	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S223F(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTTCTCATATCCTACATGTTT	0.398										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(667-669)TCC>TTC		olfactory receptor, family 8, subfamily K,							107.0	98.0	101.0					11																	56114182		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114182C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.668C>T	11.37:g.56114182C>T	ENSP00000279783:p.Ser223Phe	HNSCC(65;0.19)					p.S223F	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	668	+	Esophageal squamous(21;0.00448)		223			Helical; Name=5; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.668C>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270411	0.80469	.	.	ENSG00000150261	ENST00000279783	T	0.42513	0.97	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000166	T	0.71871	0.3391	H	0.96720	3.87	0.50467	D	0.999876	P	0.52692	0.955	P	0.54174	0.744	D	0.83658	0.0159	10	0.87932	D	0	-17.4348	18.2972	0.90150	0.0:1.0:0.0:0.0	.	223	Q8NGG5	OR8K1_HUMAN	F	223	ENSP00000279783:S223F	ENSP00000279783:S223F	S	+	2	0	OR8K1	55870758	0.999000	0.42202	0.622000	0.29159	0.839000	0.47603	5.656000	0.67988	2.297000	0.77311	0.549000	0.68633	TCC		PASS	0.398	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		7	34	7	34	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56127806	56127806	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56127806C>T	ENST00000303039.3	+	1	116	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTCCCCTCTTCCTGGTCTTTC	0.488																																						uc010rjh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(82-84)TTC>TTT		olfactory receptor, family 8, subfamily J,							114.0	112.0	113.0					11																	56127806		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127806C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.84C>T	11.37:g.56127806C>T							p.F28F	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	84	+	Esophageal squamous(21;0.00448)		28			Helical; Name=1; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.84C>T	CCDS31529.1																																																																																				PASS	0.488	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		15	70	15	70	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185293	56185293	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56185293C>T	ENST00000312253.1	-	1	415	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATGCAGACTCTTCTTGACAT	0.473																																						uc010rji.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(415-417)AGA>AAA		olfactory receptor, family 5, subfamily R,							105.0	105.0	105.0					11																	56185293		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185293C>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.416G>A	11.37:g.56185293C>T	ENSP00000308595:p.Arg139Lys						p.R139K	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	416	-	Esophageal squamous(21;0.00448)		139			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.416G>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	C	6.952	0.545443	0.13312	.	.	ENSG00000174942	ENST00000312253	T	0.01043	5.41	5.78	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.225081	0.22262	U	0.062381	T	0.00724	0.0024	N	0.12502	0.225	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.49021	-0.8982	10	0.15066	T	0.55	-4.5648	7.3485	0.26676	0.0:0.5963:0.1188:0.2849	.	139	Q8NH85	OR5R1_HUMAN	K	139	ENSP00000308595:R139K	ENSP00000308595:R139K	R	-	2	0	OR5R1	55941869	0.000000	0.05858	0.058000	0.19502	0.706000	0.40770	-0.321000	0.08018	0.338000	0.23692	-0.455000	0.05494	AGA		PASS	0.473	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		16	60	16	60	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258004	56258004	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56258004G>A	ENST00000327216.2	-	1	867	c.843C>T	c.(841-843)atC>atT	p.I281I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I281I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCAGCATAGGGATTACTGTGG	0.328																																						uc001nix.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(841-843)ATC>ATT		olfactory receptor, family 5, subfamily M,							46.0	52.0	50.0					11																	56258004		2201	4295	6496	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258004G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.843C>T	11.37:g.56258004G>A							p.I281I	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	843	-	Esophageal squamous(21;0.00352)		281			Helical; Name=7; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.843C>T	CCDS31533.1																																																																																				PASS	0.328	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		6	37	6	37	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258235	56258235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56258235C>T	ENST00000327216.2	-	1	636	c.612G>A	c.(610-612)tgG>tgA	p.W204*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W204*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAGAAAGGTTCCAGCCAGCCA	0.398																																						uc001nix.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(610-612)TGG>TGA		olfactory receptor, family 5, subfamily M,							65.0	66.0	65.0					11																	56258235		2201	4296	6497	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258235C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.612G>A	11.37:g.56258235C>T	ENSP00000323354:p.Trp204*						p.W204*	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	612	-	Esophageal squamous(21;0.00352)		204			Helical; Name=5; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.612G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700460	0.03279	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.35	-8.69	0.00855	.	0.804567	0.10463	N	0.671747	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.1432	8.392	0.32533	0.1702:0.3536:0.4762:0.0	.	.	.	.	X	204	.	ENSP00000323354:W204X	W	-	3	0	OR5M8	56014811	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.679000	0.01940	-1.501000	0.01817	-0.205000	0.12727	TGG		PASS	0.398	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	41	8	41	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56309974	56309974	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56309974G>A	ENST00000528616.2	-	1	783	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L254F(1)|p.L255F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ATGCAAAAGAGAGTCCCATAA	0.438																																						uc010rjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(760-762)CTC>TTC		olfactory receptor, family 5, subfamily M,							114.0	112.0	113.0					11																	56309974		1956	4160	6116	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309974G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.760C>T	11.37:g.56309974G>A	ENSP00000432417:p.Leu254Phe						p.L254F	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	760	-			254			Helical; Name=6; (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.760C>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794391	0.50102	.	.	ENSG00000255223	ENST00000528616	T	0.00174	8.62	4.85	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.83483	2.645	0.31258	N	0.693276	D	0.89917	1.0	D	0.97110	1.0	T	0.32587	-0.9901	9	0.72032	D	0.01	.	11.0357	0.47799	0.0905:0.0:0.9095:0.0	.	254	Q96RB7	OR5MB_HUMAN	F	254	ENSP00000432417:L254F	ENSP00000432417:L254F	L	-	1	0	OR5M11	56066550	0.000000	0.05858	0.736000	0.30914	0.632000	0.37999	-0.398000	0.07259	1.318000	0.45170	-0.162000	0.13425	CTC		PASS	0.438	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		11	75	11	75	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380053	56380053	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56380053G>A	ENST00000526538.1	-	1	925	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S309F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTATGAAAGGATTTTCCCCT	0.383																																						uc001nja.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(925-927)TCC>TTC		olfactory receptor, family 5, subfamily M,							137.0	136.0	136.0					11																	56380053		1849	4095	5944	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380053G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.926C>T	11.37:g.56380053G>A	ENSP00000435416:p.Ser309Phe						p.S309F	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	926	-			309			Cytoplasmic (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.926C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284749	0.01398	.	.	ENSG00000255012	ENST00000526538	T	0.36699	1.24	3.78	1.35	0.21983	.	.	.	.	.	T	0.13072	0.0317	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	9	0.09843	T	0.71	.	2.0532	0.03575	0.5842:0.1656:0.091:0.1593	.	309	Q8NGP8	OR5M1_HUMAN	F	309	ENSP00000435416:S309F	ENSP00000435416:S309F	S	-	2	0	OR5M1	56136629	0.001000	0.12720	0.000000	0.03702	0.094000	0.18550	1.360000	0.34125	0.062000	0.16340	-1.143000	0.01870	TCC		PASS	0.383	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		30	95	30	95	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56380724G>A	ENST00000526538.1	-	1	254	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448																																						uc001nja.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(253-255)TTC>TTT		olfactory receptor, family 5, subfamily M,							148.0	140.0	143.0					11																	56380724		1909	4127	6036	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380724G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.255C>T	11.37:g.56380724G>A							p.F85F	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	255	-			85			Extracellular (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.255C>T	CCDS53631.1																																																																																				PASS	0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		35	60	35	60	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409132	56409132	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56409132G>A	ENST00000302981.1	-	1	783	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.L263F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L262F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TACATGAAGAGGATTGTTCCA	0.463																																						uc001njb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(784-786)CTC>TTC		olfactory receptor, family 5, subfamily AP,							113.0	97.0	102.0					11																	56409132		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409132G>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.784C>T	11.37:g.56409132G>A	ENSP00000303111:p.Leu262Phe						p.L262F	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	784	-			262			Helical; Name=6; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.784C>T	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753615	0.49362	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.41758	0.99;0.99	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000469	T	0.46171	0.1379	N	0.17800	0.525	0.37255	D	0.906711	D	0.89917	1.0	D	0.78314	0.991	T	0.41124	-0.9526	10	0.22109	T	0.4	.	13.3574	0.60635	0.0:0.0:0.8426:0.1574	.	262	Q8NGF4	O5AP2_HUMAN	F	263;262	ENSP00000442701:L263F;ENSP00000303111:L262F	ENSP00000303111:L262F	L	-	1	0	OR5AP2	56165708	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-0.267000	0.08619	2.584000	0.87258	0.637000	0.83480	CTC		PASS	0.463	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		35	37	35	37	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56467982	56467982	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:56467982G>A	ENST00000312153.1	+	1	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G40E(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACTGTGGTAGGAAATAGCACC	0.493																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GGA>GAA		olfactory receptor, family 9, subfamily G,							206.0	178.0	187.0					11																	56467982		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56467982G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.119G>A	11.37:g.56467982G>A	ENSP00000309012:p.Gly40Glu						p.G40E	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	119	+			40			Helical; Name=1; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.119G>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786027	0.31593	.	.	ENSG00000174914	ENST00000312153	T	0.04360	3.64	4.52	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.259165	0.27567	N	0.018782	T	0.20861	0.0502	M	0.83384	2.64	0.33189	D	0.550658	D	0.61080	0.989	D	0.64687	0.928	T	0.40059	-0.9583	10	0.87932	D	0	-1.6363	14.4351	0.67274	0.0:0.2811:0.7189:0.0	.	40	Q8NH87	OR9G1_HUMAN	E	40	ENSP00000309012:G40E	ENSP00000309012:G40E	G	+	2	0	OR9G1	56224558	0.163000	0.22920	0.863000	0.33907	0.127000	0.20565	0.919000	0.28692	0.589000	0.29677	0.573000	0.79308	GGA		PASS	0.493	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	45	5	45	---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004475	57004475	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:57004475C>T	ENST00000606794.1	-	1	200	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	2					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.E2K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCACCTTCCTCCATGCTGGGG	0.567																																						uc001njo.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(4-6)GAG>AAG		apelin receptor							39.0	39.0	39.0					11																	57004475		2134	4169	6303	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57004475C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.4G>A	11.37:g.57004475C>T	ENSP00000475344:p.Glu2Lys					APLNR_uc001njn.3_RNA	p.E2K	NM_005161	NP_005152	P35414	APJ_HUMAN			1	453	-			2			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.4G>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906171	0.52333	.	.	ENSG00000134817	ENST00000257254;ENST00000326830	T	0.38560	1.13	5.25	4.34	0.51931	.	2.026850	0.02311	N	0.072110	T	0.31389	0.0795	N	0.08118	0	0.34590	D	0.715412	B	0.09022	0.002	B	0.10450	0.005	T	0.13415	-1.0510	10	0.66056	D	0.02	-31.2698	11.4641	0.50227	0.0:0.9159:0.0:0.0841	.	2	P35414	APJ_HUMAN	K	2	ENSP00000257254:E2K	ENSP00000257254:E2K	E	-	1	0	APLNR	56761051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.450000	0.44943	1.220000	0.43490	0.561000	0.74099	GAG		PASS	0.567	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		14	29	14	29	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57118326	57118326	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:57118326G>A	ENST00000263314.2	+	8	830	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	266					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.D266N(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CACCCGGCTCGACAGCGTTTC	0.567																																						uc001nju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(796-798)GAC>AAC		purinergic receptor P2X3							94.0	82.0	86.0					11																	57118326		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57118326G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.796G>A	11.37:g.57118326G>A	ENSP00000263314:p.Asp266Asn						p.D266N	NM_002559	NP_002550	P56373	P2RX3_HUMAN			8	872	+			266			Extracellular (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.796G>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887422	0.91814	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05319	3.46	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	M	0.91612	3.225	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.26916	-1.0089	10	0.72032	D	0.01	-25.4095	16.8117	0.85722	0.0:0.0:1.0:0.0	.	266	P56373	P2RX3_HUMAN	N	266	ENSP00000263314:D266N	ENSP00000263314:D266N	D	+	1	0	P2RX3	56874902	1.000000	0.71417	0.347000	0.25668	0.648000	0.38561	8.173000	0.89680	2.704000	0.92352	0.650000	0.86243	GAC		PASS	0.567	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		5	30	5	30	---	---	---	---
OR9Q1	219956	broad.mit.edu	37	11	57947718	57947718	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:57947718G>A	ENST00000335397.3	+	3	1118	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E268K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCAGTCTTCGGAGAAGAATCG	0.507																																						uc001nmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)GAG>AAG		olfactory receptor, family 9, subfamily Q,							157.0	128.0	138.0					11																	57947718		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947718G>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.802G>A	11.37:g.57947718G>A	ENSP00000334934:p.Glu268Lys						p.E268K	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	1118	+		Breast(21;0.222)	268			Extracellular (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.802G>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	5.613	0.297895	0.10622	.	.	ENSG00000186509	ENST00000335397	T	0.00099	8.73	4.67	-1.25	0.09405	GPCR, rhodopsin-like superfamily (1);	0.300400	0.23510	N	0.047415	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.23442	0.085	B	0.24269	0.052	T	0.35201	-0.9798	10	0.59425	D	0.04	-3.8241	4.9326	0.13925	0.2157:0.5183:0.167:0.0989	.	268	Q8NGQ5	OR9Q1_HUMAN	K	268	ENSP00000334934:E268K	ENSP00000334934:E268K	E	+	1	0	OR9Q1	57704294	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.632000	0.05489	-0.321000	0.08627	0.484000	0.47621	GAG		PASS	0.507	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		23	37	23	37	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958765	57958765	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:57958765C>T	ENST00000311591.3	+	1	860	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S268F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGCCAGTCCTCCGAGGGAGAC	0.557																																						uc010rka.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(802-804)TCC>TTC		olfactory receptor, family 9, subfamily Q,							105.0	95.0	98.0					11																	57958765		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958765C>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.803C>T	11.37:g.57958765C>T	ENSP00000308714:p.Ser268Phe						p.S268F	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	803	+		Breast(21;0.0589)	268			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.803C>T	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	5.067	0.198073	0.09652	.	.	ENSG00000186513	ENST00000311591	T	0.00158	8.65	5.09	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.231624	0.22990	N	0.053213	T	0.00144	0.0004	L	0.46567	1.45	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.37753	-0.9692	10	0.66056	D	0.02	-9.1185	4.9663	0.14093	0.1422:0.5557:0.0:0.3021	.	268	Q8NGE9	OR9Q2_HUMAN	F	268	ENSP00000308714:S268F	ENSP00000308714:S268F	S	+	2	0	OR9Q2	57715341	0.000000	0.05858	0.477000	0.27303	0.230000	0.25150	-0.348000	0.07740	0.848000	0.35191	-0.137000	0.14449	TCC		PASS	0.557	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		10	49	10	49	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58035306	58035306	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:58035306G>A	ENST00000395079.2	-	1	426	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P9S(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GGGCAGGAGGGATAGGCCAGG	0.453																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)CCC>TCC		olfactory receptor, family 10, subfamily W,							64.0	57.0	59.0					11																	58035306		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58035306G>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.25C>T	11.37:g.58035306G>A	ENSP00000378516:p.Pro9Ser						p.P9S	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	427	-		Breast(21;0.0589)	9			Extracellular (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.25C>T	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	G	2.353	-0.348457	0.05208	.	.	ENSG00000172772	ENST00000395079	T	0.00495	6.99	4.82	3.86	0.44501	.	0.000000	0.48767	D	0.000173	T	0.00271	0.0008	N	0.00630	-1.315	0.31888	N	0.617536	D	0.60160	0.987	P	0.56612	0.802	T	0.64824	-0.6316	10	0.02654	T	1	.	11.7879	0.52053	0.0:0.0:0.8252:0.1748	.	9	Q8NGF6	O10W1_HUMAN	S	9	ENSP00000378516:P9S	ENSP00000378516:P9S	P	-	1	0	OR10W1	57791882	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.686000	0.05161	2.507000	0.84556	0.591000	0.81541	CCC		PASS	0.453	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		13	19	13	19	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206868	58206868	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:58206868C>T	ENST00000302572.2	-	1	778	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G253R(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATAAAGATTCCTGTCCCATAA	0.443																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GGA>AGA		olfactory receptor, family 5, subfamily B,							80.0	77.0	78.0					11																	58206868		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206868C>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.757G>A	11.37:g.58206868C>T	ENSP00000306657:p.Gly253Arg						p.G253R	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	757	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	253			Helical; Name=6; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.757G>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347132	0.24426	.	.	ENSG00000172362	ENST00000302572	T	0.00158	8.65	4.3	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	1.010370	0.07951	N	0.980896	T	0.00210	0.0006	L	0.60455	1.87	0.09310	N	1	P	0.38535	0.635	B	0.41619	0.361	T	0.30966	-0.9960	10	0.72032	D	0.01	0.7704	4.9552	0.14035	0.3375:0.5216:0.0:0.1408	.	253	Q96R08	OR5BC_HUMAN	R	253	ENSP00000306657:G253R	ENSP00000306657:G253R	G	-	1	0	OR5B12	57963444	0.000000	0.05858	0.810000	0.32431	0.569000	0.35902	-1.264000	0.02847	1.080000	0.41073	0.462000	0.41574	GGA		PASS	0.443	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		18	26	18	26	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978323	58978323	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:58978323G>A	ENST00000361050.3	-	1	2101	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	672						integral component of membrane (GO:0016021)		p.I672I(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGGCCAAGGTGATAACAACAG	0.552																																						uc001nnu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2014-2016)ATC>ATT		macrophage expressed gene 1 precursor							127.0	131.0	130.0					11																	58978323		2048	4183	6231	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58978323G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2016C>T	11.37:g.58978323G>A							p.I672I	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	2172	-		all_epithelial(135;0.125)	672			Helical; (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.2016C>T	CCDS41650.1																																																																																				PASS	0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		25	31	25	31	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58979667	58979667	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:58979667G>A	ENST00000361050.3	-	1	757	c.672C>T	c.(670-672)tcC>tcT	p.S224S	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	224	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)		p.S224S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTTGGAGGAAGGAGGCCCTGA	0.552																																						uc001nnu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)TCC>TCT		macrophage expressed gene 1 precursor							53.0	53.0	53.0					11																	58979667		1950	4123	6073	SO:0001819	synonymous_variant	219972					integral to membrane		g.chr11:58979667G>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.672C>T	11.37:g.58979667G>A							p.S224S	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	828	-		all_epithelial(135;0.125)	224			MACPF.|Extracellular (Potential).		Q2M1T6|Q8TEF8	Silent	SNP	ENST00000361050.3	37	c.672C>T	CCDS41650.1																																																																																				PASS	0.552	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		6	11	6	11	---	---	---	---
OR5AN1	390195	broad.mit.edu	37	11	59132298	59132298	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:59132298C>T	ENST00000313940.2	+	1	414	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R123C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						GGCTTATGATCGTTATGCTGC	0.453																																						uc010rks.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)CGT>TGT		olfactory receptor, family 5, subfamily AN,							262.0	227.0	239.0					11																	59132298		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132298C>T	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.367C>T	11.37:g.59132298C>T	ENSP00000320302:p.Arg123Cys						p.R123C	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	367	+			123			Cytoplasmic (Potential).		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.367C>T	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485654	0.44147	.	.	ENSG00000176495	ENST00000313940	T	0.77358	-1.09	4.12	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.147317	0.30791	N	0.008861	T	0.81173	0.4767	M	0.87381	2.88	0.43930	D	0.996584	D	0.69078	0.997	P	0.51355	0.667	T	0.79298	-0.1861	10	0.72032	D	0.01	-6.6498	5.4184	0.16386	0.1467:0.6239:0.1428:0.0866	.	123	Q8NGI8	O5AN1_HUMAN	C	123	ENSP00000320302:R123C	ENSP00000320302:R123C	R	+	1	0	OR5AN1	58888874	0.214000	0.23563	0.676000	0.29932	0.189000	0.23516	0.497000	0.22514	0.444000	0.26612	0.655000	0.94253	CGT		PASS	0.453	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		33	39	33	39	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245164	59245164	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:59245164G>A	ENST00000530162.1	+	1	319	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E88K(1)|p.E86K(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTCTGTCTGAAAGAAAGAC	0.433																																						uc001nnz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(262-264)GAA>AAA		olfactory receptor, family 4, subfamily D,							123.0	122.0	123.0					11																	59245164		2041	4204	6245	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245164G>A	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.262G>A	11.37:g.59245164G>A	ENSP00000436424:p.Glu88Lys						p.E88K	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	262	+			88			Extracellular (Potential).		B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.262G>A	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100662	0.08731	.	.	ENSG00000254466	ENST00000530162	T	0.10099	2.91	4.11	-4.81	0.03180	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06416	0.0165	L	0.31420	0.93	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40869	-0.9540	9	0.24483	T	0.36	.	7.2229	0.25999	0.1664:0.2526:0.5811:0.0	.	88	Q8NGI6	OR4DA_HUMAN	K	88	ENSP00000436424:E88K	ENSP00000436424:E88K	E	+	1	0	OR4D10	59001740	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.221000	0.01216	-1.005000	0.03417	0.561000	0.74099	GAA		PASS	0.433	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		49	62	49	62	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral component of membrane (GO:0016021)		p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453																																						uc001npd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)GAA>AAA		membrane-spanning 4-domains, subfamily A, member							154.0	146.0	149.0					11																	60105331		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105331G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.265G>A	11.37:g.60105331G>A	ENSP00000300182:p.Glu89Lys						p.E89K	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			2	279	+			89			Extracellular (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.265G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.856475	0.00558	.	.	ENSG00000166926	ENST00000300182	T	0.08634	3.07	2.03	-1.02	0.10135	.	1.042350	0.07546	N	0.914624	T	0.01489	0.0048	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	10	0.02654	T	1	.	1.9174	0.03300	0.5553:0.0:0.1792:0.2655	.	89	Q96DS6	M4A6E_HUMAN	K	89	ENSP00000300182:E89K	ENSP00000300182:E89K	E	+	1	0	MS4A6E	59861907	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.638000	0.05452	-0.445000	0.07159	-1.373000	0.01185	GAA		PASS	0.453	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			9	66	9	66	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183468	60183468	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:60183468C>T	ENST00000300187.6	+	5	1304	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.H376Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.H231Y|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.H326Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	343						integral component of membrane (GO:0016021)		p.H343Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACATCATCCCATGTCAAACA	0.438																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1027-1029)CAT>TAT		membrane-spanning 4-domains, subfamily A, member							136.0	112.0	120.0					11																	60183468		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183468C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1027C>T	11.37:g.60183468C>T	ENSP00000300187:p.His343Tyr					MS4A14_uc001npi.2_Missense_Mutation_p.H231Y|MS4A14_uc001npn.2_Missense_Mutation_p.H81Y|MS4A14_uc001npk.2_Missense_Mutation_p.H326Y|MS4A14_uc001npl.2_Missense_Mutation_p.H81Y|MS4A14_uc001npm.2_Missense_Mutation_p.H81Y	p.H343Y	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1592	+			343					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1027C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922706	0.18056	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.34472	1.36;2.58;1.37;2.96	3.5	1.59	0.23543	.	8.081190	0.00166	N	0.000000	T	0.41903	0.1179	N	0.19112	0.55	0.09310	N	0.999994	D;D	0.69078	0.997;0.994	P;P	0.58928	0.848;0.709	T	0.37337	-0.9710	10	0.44086	T	0.13	-8.1887	8.4559	0.32899	0.4226:0.5774:0.0:0.0	.	326;343	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	231;343;326;376	ENSP00000437222:H231Y;ENSP00000300187:H343Y;ENSP00000378453:H326Y;ENSP00000433761:H376Y	ENSP00000300187:H343Y	H	+	1	0	MS4A14	59940044	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.545000	0.06069	0.459000	0.27016	-0.158000	0.13435	CAT		PASS	0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			12	35	12	35	---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60635145	60635145	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:60635145C>T	ENST00000278853.5	+	1	111	c.111C>T	c.(109-111)ctC>ctT	p.L37L		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	37					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.L37L(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCAGGCCTCCGGCACAGCT	0.662																																						uc001nqd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)CTC>CTT		zona pellucida glycoprotein 1 precursor							59.0	48.0	52.0					11																	60635145		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60635145C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.111C>T	11.37:g.60635145C>T						ZP1_uc001nqe.2_5'Flank	p.L37L	NM_207341	NP_997224	P60852	ZP1_HUMAN			1	131	+			37			Extracellular (Potential).			Silent	SNP	ENST00000278853.5	37	c.111C>T	CCDS31572.1																																																																																				PASS	0.662	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		6	14	6	14	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61511223	61511223	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:61511223C>T	ENST00000257215.5	+	20	2507	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	797					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S797S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGCGCCGCTCCTCAGGCTTCC	0.672																																						uc001nsa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2389-2391)TCC>TCT		neural stem cell-derived dendrite regulator							52.0	59.0	56.0					11																	61511223		2022	4035	6057	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511223C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2391C>T	11.37:g.61511223C>T							p.S797S	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2502	+			797			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2391C>T	CCDS31578.1																																																																																				PASS	0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		11	41	11	41	---	---	---	---
FADS1	3992	broad.mit.edu	37	11	61578274	61578274	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:61578274G>T	ENST00000350997.7	-	5	1096	c.864C>A	c.(862-864)gaC>gaA	p.D288E	FADS1_ENST00000433932.1_Missense_Mutation_p.D147E|FADS1_ENST00000542506.1_Missense_Mutation_p.D147E|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	231					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.D231E(1)		central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCATGTTGATGTCTGGGTCTT	0.562																																						uc010rlm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(862-864)GAC>GAA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						133.0	148.0	143.0					11																	61578274		2105	4247	6352	SO:0001583	missense	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61578274G>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.864C>A	11.37:g.61578274G>T	ENSP00000322229:p.Asp288Glu					FADS1_uc001nsh.2_Missense_Mutation_p.D147E|FADS1_uc010rln.1_Missense_Mutation_p.D147E	p.D288E	NM_013402	NP_037534	O60427	FADS1_HUMAN			5	992	-			231			Cytoplasmic (Potential).		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	c.864C>A	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754883	0.69648	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000539999;ENST00000540767;ENST00000545245;ENST00000545405	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.06	0.998	0.19857	Fatty acid desaturase, type 1 (1);	0.000000	0.49916	U	0.000137	D	0.84165	0.5412	M	0.94021	3.485	0.44275	D	0.997139	D	0.64830	0.994	D	0.64144	0.922	D	0.83497	0.0073	10	0.87932	D	0	-27.4535	8.9264	0.35643	0.5431:0.0:0.4569:0.0	.	231	O60427	FADS1_HUMAN	E	164;288;147;147;147;17;147;147;147	ENSP00000322229:D288E;ENSP00000405087:D147E;ENSP00000441403:D147E;ENSP00000443587:D17E;ENSP00000441871:D147E;ENSP00000442170:D147E;ENSP00000440652:D147E	ENSP00000322229:D288E	D	-	3	2	FADS1	61334850	0.970000	0.33590	0.993000	0.49108	0.990000	0.78478	0.557000	0.23454	0.001000	0.14605	-0.126000	0.14955	GAC		PASS	0.562	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		32	52	32	52	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292480	62292480	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:62292480G>A	ENST00000378024.4	-	5	9683	c.9409C>T	c.(9409-9411)Cca>Tca	p.P3137S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3137					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P3137S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATTAATA	0.468																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9409-9411)CCA>TCA		AHNAK nucleoprotein isoform 1							208.0	230.0	222.0					11																	62292480		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292480G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9409C>T	11.37:g.62292480G>A	ENSP00000367263:p.Pro3137Ser					AHNAK_uc001ntk.1_Intron	p.P3137S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9709	-		Melanoma(852;0.155)	3137					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9409C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	9.694	1.152585	0.21371	.	.	ENSG00000124942	ENST00000378024	T	0.02837	4.14	3.79	3.79	0.43588	.	.	.	.	.	T	0.14960	0.0361	M	0.83852	2.665	0.44432	D	0.997356	D	0.71674	0.998	D	0.80764	0.994	T	0.04360	-1.0957	9	0.33141	T	0.24	-1.6925	14.4085	0.67099	0.0:0.0:1.0:0.0	.	3137	Q09666	AHNK_HUMAN	S	3137	ENSP00000367263:P3137S	ENSP00000367263:P3137S	P	-	1	0	AHNAK	62049056	1.000000	0.71417	0.775000	0.31657	0.071000	0.16799	2.031000	0.41117	1.642000	0.50584	0.305000	0.20034	CCA		PASS	0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		88	112	88	112	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62293705	62293705	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:62293705G>A	ENST00000378024.4	-	5	8458	c.8184C>T	c.(8182-8184)tcC>tcT	p.S2728S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2728					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S2728S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTAGGAAGGGAAACATCCA	0.478																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8182-8184)TCC>TCT		AHNAK nucleoprotein isoform 1							187.0	181.0	183.0					11																	62293705		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293705G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8184C>T	11.37:g.62293705G>A						AHNAK_uc001ntk.1_Intron	p.S2728S	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8484	-		Melanoma(852;0.155)	2728					A1A586	Silent	SNP	ENST00000378024.4	37	c.8184C>T	CCDS31584.1																																																																																				PASS	0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		59	76	59	76	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295384	62295384	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:62295384C>T	ENST00000378024.4	-	5	6779	c.6505G>A	c.(6505-6507)Ggg>Agg	p.G2169R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2169					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G2169R(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTGGGCCCTTTCAACTTT	0.483																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6505-6507)GGG>AGG		AHNAK nucleoprotein isoform 1							179.0	190.0	187.0					11																	62295384		2202	4296	6498	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295384C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6505G>A	11.37:g.62295384C>T	ENSP00000367263:p.Gly2169Arg					AHNAK_uc001ntk.1_Intron	p.G2169R	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6805	-		Melanoma(852;0.155)	2169					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6505G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	6.878	0.531503	0.13127	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03358	3.96	3.92	2.97	0.34412	.	.	.	.	.	T	0.20536	0.0494	H	0.96748	3.875	0.31654	N	0.646483	P	0.51351	0.944	P	0.56042	0.79	T	0.23332	-1.0191	9	0.51188	T	0.08	.	8.8742	0.35334	0.0:0.8102:0.0:0.1898	.	2169	Q09666	AHNK_HUMAN	R	258;2169	ENSP00000367263:G2169R	ENSP00000244934:G258R	G	-	1	0	AHNAK	62051960	0.026000	0.19158	0.958000	0.39756	0.133000	0.20885	0.911000	0.28584	1.891000	0.54761	0.298000	0.19748	GGG		PASS	0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		63	113	63	113	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62396262	62396262	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:62396262C>A	ENST00000356638.3	-	17	2175	c.2159G>T	c.(2158-2160)cGg>cTg	p.R720L	GANAB_ENST00000346178.4_Missense_Mutation_p.R742L|GANAB_ENST00000540933.1_Missense_Mutation_p.R623L|GANAB_ENST00000534779.1_Missense_Mutation_p.R628L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	720					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.R720L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AATGCCTTCCCGATGGGCCTG	0.532																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2158-2160)CGG>CTG		neutral alpha-glucosidase AB isoform 2							153.0	140.0	145.0					11																	62396262		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62396262C>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2159G>T	11.37:g.62396262C>A	ENSP00000349053:p.Arg720Leu					GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.R742L|GANAB_uc001nuc.2_Missense_Mutation_p.R623L|GANAB_uc010rma.1_Missense_Mutation_p.R628L|GANAB_uc010rmb.1_Missense_Mutation_p.R606L	p.R720L	NM_198334	NP_938148	Q14697	GANAB_HUMAN			17	2192	-			720					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2159G>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811831	0.16537	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.1	1.9	0.25705	Glycoside hydrolase, superfamily (1);	0.442370	0.23183	N	0.050981	T	0.77994	0.4214	N	0.13299	0.325	0.31436	N	0.6725	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.68074	-0.5505	10	0.18710	T	0.47	-1.6549	6.699	0.23215	0.3103:0.5993:0.0:0.0904	.	606;628;720;742	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	742;720;628;623	ENSP00000340466:R742L;ENSP00000349053:R720L;ENSP00000435306:R628L;ENSP00000442962:R623L	ENSP00000340466:R742L	R	-	2	0	GANAB	62152838	0.038000	0.19896	0.293000	0.24932	0.753000	0.42808	0.491000	0.22419	0.791000	0.33826	0.561000	0.74099	CGG		PASS	0.532	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		5	163	5	163	---	---	---	---
RCOR2	283248	broad.mit.edu	37	11	63676648	63676648	+	IGR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:63676648C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|MARK2_ENST00000402010.2_Missense_Mutation_p.S769L|MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S726L(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGCGGATATCGGGCACCTCC	0.612																																						uc001nxw.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(2305-2307)TCG>TTG		MAP/microtubule affinity-regulating kinase 2							77.0	71.0	73.0					11																	63676648		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676648C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676648C>T						MARK2_uc001nxx.2_Missense_Mutation_p.S700L|MARK2_uc001nxy.2_Missense_Mutation_p.S690L|MARK2_uc001nxv.3_Missense_Mutation_p.S705L|MARK2_uc001nxz.3_Missense_Mutation_p.S726L|MARK2_uc009yoy.2_Missense_Mutation_p.S680L	p.S769L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			19	2885	+			769			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2306C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799111	0.90538	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.41	4.41	0.53225	Kinase-associated KA1 (4);	0.155672	0.44097	D	0.000490	T	0.66257	0.2771	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.998;0.998;1.0;0.999	D;D;D;D;D;D	0.79784	0.957;0.942;0.927;0.986;0.993;0.942	T	0.71421	-0.4598	10	0.62326	D	0.03	.	16.3282	0.82996	0.0:1.0:0.0:0.0	.	680;726;690;700;769;705	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	L	769;760;754;715;672;705;700;690;761;726;736;672;680	ENSP00000385751:S769L;ENSP00000326632:S760L;ENSP00000367040:S754L;ENSP00000389184:S715L;ENSP00000367041:S672L;ENSP00000425765:S705L;ENSP00000355091:S700L;ENSP00000294247:S690L;ENSP00000423974:S726L;ENSP00000421075:S736L;ENSP00000386128:S672L;ENSP00000415494:S680L	ENSP00000326632:S760L	S	+	2	0	MARK2	63433224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.644000	0.83416	2.455000	0.83008	0.542000	0.68232	TCG		PASS	0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		13	32	13	32	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63963138	63963138	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:63963138C>T	ENST00000305218.4	+	5	672	c.525C>T	c.(523-525)atC>atT	p.I175I	STIP1_ENST00000543847.1_Silent_p.I175I|STIP1_ENST00000538945.1_Silent_p.I151I|STIP1_ENST00000358794.5_Silent_p.I222I|STIP1_ENST00000540501.1_3'UTR	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	175					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I175I(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						ATCCCCGGATCATGACCACTC	0.443																																						uc001nyk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)	3						c.(523-525)ATC>ATT		stress-induced-phosphoprotein 1							69.0	63.0	65.0					11																	63963138		2201	4297	6498	SO:0001819	synonymous_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63963138C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.525C>T	11.37:g.63963138C>T						STIP1_uc001nyj.2_Silent_p.I175I|STIP1_uc010rnb.1_Silent_p.I151I	p.I175I	NM_006819	NP_006810	P31948	STIP1_HUMAN			5	672	+			175					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	c.525C>T	CCDS8058.1																																																																																				PASS	0.443	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		9	26	9	26	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64109193	64109193	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64109193G>A	ENST00000356786.5	+	7	698	c.654G>A	c.(652-654)cgG>cgA	p.R218R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	218						membrane (GO:0016020)		p.R218R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTGGCACGGGAGCGTGACC	0.662																																						uc001nzy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(652-654)CGG>CGA		coiled-coil domain containing 88							19.0	22.0	21.0					11																	64109193		2200	4297	6497	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109193G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.654G>A	11.37:g.64109193G>A						CCDC88B_uc009ypo.1_Silent_p.R215R|CCDC88B_uc001nzz.1_5'Flank	p.R218R	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			7	698	+			218					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.654G>A	CCDS8072.2																																																																																				PASS	0.662	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		8	12	8	12	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64121476	64121476	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64121476G>A	ENST00000356786.5	+	24	3977	c.3933G>A	c.(3931-3933)aaG>aaA	p.K1311K	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000359902.2_Splice_Site_p.K463K	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1311						membrane (GO:0016020)		p.K1311K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGCCCCCAGGAAGGGCAGCT	0.701																																						uc001nzy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3931-3933)AAG>AAA		coiled-coil domain containing 88							22.0	24.0	23.0					11																	64121476		2201	4296	6497	SO:0001630	splice_region_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64121476G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3933-1G>A	11.37:g.64121476G>A						CCDC88B_uc009ypo.1_Silent_p.K1308K|CCDC88B_uc001oaa.2_Silent_p.K463K|CCDC88B_uc001oab.1_Silent_p.K142K|CCDC88B_uc001oac.2_Intron	p.K1311K	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			24	3977	+			1311					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.3933G>A	CCDS8072.2																																																																																				PASS	0.701	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	Silent	4	9	4	9	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64129364	64129364	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64129364G>A	ENST00000334205.4	+	8	861	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.G266R|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.G266R	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	266	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.G266R(2)		breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCTCGGATCGGGCCCGTGGC	0.682																																						uc001oae.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|breast(1)	5						c.(796-798)GGG>AGG		ribosomal protein S6 kinase, 90kDa, polypeptide							45.0	53.0	50.0					11																	64129364		2199	4292	6491	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129364G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.796G>A	11.37:g.64129364G>A	ENSP00000333896:p.Gly266Arg					RPS6KA4_uc001oad.2_Missense_Mutation_p.G266R|RPS6KA4_uc010rnl.1_Missense_Mutation_p.G203R|RPS6KA4_uc001oaf.2_Missense_Mutation_p.G266R|RPS6KA4_uc009ypp.2_Missense_Mutation_p.G266R	p.G266R	NM_003942	NP_003933	O75676	KS6A4_HUMAN			8	879	+			266			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.796G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	N	16.81	3.225392	0.58668	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.01	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143267	0.45867	D	0.000333	T	0.28532	0.0706	L	0.38175	1.15	0.46654	D	0.999145	B;P;P;P	0.42039	0.008;0.684;0.65;0.769	B;B;P;B	0.46510	0.004;0.306;0.519;0.337	T	0.10405	-1.0631	10	0.87932	D	0	.	13.9834	0.64319	0.0:0.0:1.0:0.0	.	266;266;266;266	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	R	266;266;266;250	ENSP00000435580:G266R;ENSP00000333896:G266R;ENSP00000294261:G266R;ENSP00000432945:G250R	ENSP00000294261:G266R	G	+	1	0	RPS6KA4	63885940	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.845000	0.75394	1.942000	0.56320	0.511000	0.50034	GGG		PASS	0.682	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		7	28	7	28	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64138829	64138829	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64138829G>A	ENST00000334205.4	+	17	2261	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	RPS6KA4_ENST00000528057.1_Silent_p.K725K|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Silent_p.K484K	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	732	Required for nuclear targeting and association with MAPK14.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.K732K(2)		breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGCGGCGGAAGCAGAAGCTGC	0.706																																						uc001oae.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)|breast(1)	5						c.(2194-2196)AAG>AAA		ribosomal protein S6 kinase, 90kDa, polypeptide							27.0	32.0	30.0					11																	64138829		2147	4214	6361	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64138829G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.2196G>A	11.37:g.64138829G>A						RPS6KA4_uc001oad.2_Silent_p.K726K|RPS6KA4_uc010rnl.1_Silent_p.K669K|RPS6KA4_uc001oaf.2_Silent_p.K725K|RPS6KA4_uc009ypp.2_Silent_p.K484K	p.K732K	NM_003942	NP_003933	O75676	KS6A4_HUMAN			17	2279	+			732					A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.2196G>A	CCDS8073.1																																																																																				PASS	0.706	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		9	15	9	15	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64390376	64390376	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64390376C>T	ENST00000377551.1	-	20	4233	c.4022G>A	c.(4021-4023)gGg>gAg	p.G1341E	NRXN2_ENST00000265459.6_Missense_Mutation_p.G1341E|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1271E|NRXN2_ENST00000301894.2_Missense_Mutation_p.G295E|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1334E			Q9P2S2	NRX2A_HUMAN	neurexin 2	1341	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G1341E(1)|p.G295E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGCCCCTCCCCCACCAGGCG	0.672																																						uc001oap.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(883-885)GGG>GAG		neurexin 2 isoform beta precursor							48.0	36.0	40.0					11																	64390376		2198	4295	6493	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64390376C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4022G>A	11.37:g.64390376C>T	ENSP00000366774:p.Gly1341Glu					NRXN2_uc001oar.2_Missense_Mutation_p.G1341E|NRXN2_uc001oas.2_Missense_Mutation_p.G1271E|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.G1008E	p.G295E	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1395	-			295			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.884G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695533	0.88830	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.73789	0.02;-0.43;-0.78;-0.43;-0.33;1.11	4.18	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);Laminin G domain (2);	0.000000	0.43416	U	0.000563	D	0.86740	0.6005	M	0.84433	2.695	0.80722	D	1	D;P;D;D	0.89917	1.0;0.824;1.0;1.0	D;B;D;D	0.87578	0.996;0.289;0.998;0.994	D	0.89040	0.3448	10	0.87932	D	0	.	14.4205	0.67180	0.0:1.0:0.0:0.0	.	1271;1341;1087;295	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	E	295;1341;1271;1341;1271;1334;226	ENSP00000301894:G295E;ENSP00000366774:G1341E;ENSP00000366782:G1271E;ENSP00000265459:G1341E;ENSP00000386416:G1334E;ENSP00000407374:G226E	ENSP00000265459:G1341E	G	-	2	0	NRXN2	64146952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.640000	0.83355	2.334000	0.79466	0.561000	0.74099	GGG		PASS	0.672	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		3	8	3	8	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64434783	64434783	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64434783G>A	ENST00000377551.1	-	8	1948	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	NRXN2_ENST00000265459.6_Silent_p.S579S|NRXN2_ENST00000377559.3_Silent_p.S548S|NRXN2_ENST00000409571.1_Silent_p.S572S			Q9P2S2	NRX2A_HUMAN	neurexin 2	579	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.S579S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTTGCGGCTGGATGCCCGCA	0.607																																						uc001oar.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1735-1737)TCC>TCT		neurexin 2 isoform alpha-1 precursor							97.0	84.0	89.0					11																	64434783		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64434783G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1737C>T	11.37:g.64434783G>A						NRXN2_uc001oas.2_Silent_p.S548S|NRXN2_uc001oaq.2_Silent_p.S246S	p.S579S	NM_015080	NP_055895	P58401	NRX2B_HUMAN			10	2176	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1737C>T	CCDS8077.1																																																																																				PASS	0.607	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		36	44	36	44	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64436053	64436053	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64436053G>A	ENST00000377551.1	-	7	1432	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	NRXN2_ENST00000265459.6_Silent_p.I407I|NRXN2_ENST00000377559.3_Silent_p.I376I|NRXN2_ENST00000409571.1_Silent_p.I400I			Q9P2S2	NRX2A_HUMAN	neurexin 2	407	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.I407I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGTGGTCAGGATCCCGTCCA	0.577																																						uc001oar.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1219-1221)ATC>ATT		neurexin 2 isoform alpha-1 precursor							129.0	116.0	120.0					11																	64436053		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64436053G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1221C>T	11.37:g.64436053G>A						NRXN2_uc001oas.2_Silent_p.I376I|NRXN2_uc001oaq.2_Silent_p.I74I	p.I407I	NM_015080	NP_055895	P58401	NRX2B_HUMAN			9	1660	-			221			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1221C>T	CCDS8077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.836|9.836	1.189714|1.189714	0.21954|0.21954	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000417749	.|.	.|.	.|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|.	.|.	.|.	.|.	T|T	0.61664|0.61664	0.2365|0.2365	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59101|0.59101	-0.7517|-0.7517	4|4	.|.	.|.	.|.	.|.	10.6464|10.6464	0.45623|0.45623	0.0:0.0:0.8088:0.1912|0.0:0.0:0.8088:0.1912	.|.	.|.	.|.	.|.	S|F	182|153	.|.	.|.	P|S	-|-	1|2	0|0	NRXN2|NRXN2	64192629|64192629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.815000|0.815000	0.27253|0.27253	2.531000|2.531000	0.85337|0.85337	0.650000|0.650000	0.86243|0.86243	CCT|TCC		PASS	0.577	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		32	51	32	51	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64527235	64527235	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64527235C>T	ENST00000164139.3	-	1	534	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	PYGM_ENST00000377432.3_Missense_Mutation_p.V46M	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	46					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.V46M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTGGCCACATTGCGGTCC	0.582																																						uc001oax.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(136-138)GTG>ATG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						236.0	223.0	228.0					11																	64527235		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64527235C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.136G>A	11.37:g.64527235C>T	ENSP00000164139:p.Val46Met					PYGM_uc001oay.3_Missense_Mutation_p.V46M	p.V46M	NM_005609	NP_005600	P11217	PYGM_HUMAN			1	953	-			46					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.136G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209402	0.95069	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.90844	-2.74;-2.74	5.56	5.56	0.83823	.	0.000000	0.52532	D	0.000075	D	0.95739	0.8614	M	0.86343	2.81	0.80722	D	1	D;D	0.61697	0.99;0.961	D;P	0.70487	0.969;0.541	D	0.95713	0.8759	10	0.54805	T	0.06	-29.8488	17.029	0.86456	0.0:1.0:0.0:0.0	.	46;46	A6NDY6;P11217	.;PYGM_HUMAN	M	46	ENSP00000366650:V46M;ENSP00000164139:V46M	ENSP00000164139:V46M	V	-	1	0	PYGM	64283811	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.601000	0.82783	2.640000	0.89533	0.655000	0.94253	GTG		PASS	0.582	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		19	113	19	113	---	---	---	---
EHD1	10938	broad.mit.edu	37	11	64645802	64645802	+	Silent	SNP	G	G	A	rs564948518		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64645802G>A	ENST00000320631.3	-	1	389	c.135C>T	c.(133-135)ttC>ttT	p.F45F	EHD1_ENST00000359393.2_Silent_p.F45F	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	45					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.F45F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGGGCGAGTGGAACTCGTGGA	0.632																																						uc001obu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)TTC>TTT		EH-domain containing 1							129.0	101.0	111.0					11																	64645802		2201	4297	6498	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64645802G>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.135C>T	11.37:g.64645802G>A						EHD1_uc001obv.1_Silent_p.F45F|EHD1_uc010rnq.1_Silent_p.F59F	p.F45F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN			1	390	-			45					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.135C>T	CCDS8084.1																																																																																				PASS	0.632	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		5	32	5	32	---	---	---	---
SNX15	29907	broad.mit.edu	37	11	64800004	64800004	+	Silent	SNP	C	C	T	rs368357639	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64800004C>T	ENST00000377244.3	+	3	367	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.F79F	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	79	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.F79F(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TCCCTGCTTTCCCCCGGGCCC	0.627													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17603	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(235-237)TTC>TTT		sorting nexin 15 isoform A		C	,	0,4402		0,0,2201	61.0	52.0	55.0		237,237	0.8	0.8	11		55	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous	SNX15	NM_013306.4,NM_147777.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	79/343,79/257	64800004	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64800004C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.237C>T	11.37:g.64800004C>T						SNX15_uc009ypy.2_Silent_p.F79F|SNX15_uc001ocj.2_Silent_p.F79F|SNX15_uc001ock.2_Silent_p.F79F	p.F79F	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			6	890	+			79			PX.		E5KQS6|Q9NRS5	Silent	SNP	ENST00000377244.3	37	c.237C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921804	0.17982	0.0	1.16E-4	ENSG00000110025	ENST00000525648	.	.	.	4.95	0.767	0.18482	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47420	-0.9119	4	.	.	.	-17.2642	8.2278	0.31579	0.0:0.6228:0.0:0.3772	.	.	.	.	F	38	.	.	S	+	2	0	SNX15	64556580	0.998000	0.40836	0.788000	0.31933	0.006000	0.05464	0.513000	0.22770	0.293000	0.22520	-0.136000	0.14681	TCC		PASS	0.627	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			10	21	10	21	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64822123	64822123	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64822123C>T	ENST00000358658.3	-	5	718	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	NAALADL1_ENST00000355369.2_Missense_Mutation_p.E231K|NAALADL1_ENST00000356632.3_Missense_Mutation_p.E231K|NAALADL1_ENST00000339885.2_Missense_Mutation_p.E231K|NAALADL1_ENST00000340252.4_Missense_Mutation_p.E231K|NAALADL1_ENST00000355721.3_Missense_Mutation_p.E190K	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.E231K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGAAAGGTTTCGTCGGGTGAG	0.612											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc001ocn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)GAA>AAA		N-acetylated alpha-linked acidic							73.0	72.0	72.0					11																	64822123		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64822123C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.691G>A	11.37:g.64822123C>T	ENSP00000351484:p.Glu231Lys		OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1079	NAALADL1_uc010rnw.1_5'UTR	p.E231K	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			5	707	-			231			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.691G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	9.946	1.218728	0.22373	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	4.7	0.568	0.17333	.	0.739124	0.13415	N	0.389541	T	0.29749	0.0743	L	0.29908	0.895	0.32549	N	0.532669	B	0.25351	0.124	B	0.20577	0.03	T	0.32481	-0.9905	10	0.10377	T	0.69	-17.7308	17.0211	0.86434	0.0:0.2919:0.7081:0.0	.	231	Q9UQQ1	NALDL_HUMAN	K	231;231;231;231;231;190;231	ENSP00000351484:E231K;ENSP00000347530:E231K;ENSP00000340111:E231K;ENSP00000344244:E231K;ENSP00000347955:E190K;ENSP00000349045:E231K	ENSP00000340111:E231K	E	-	1	0	NAALADL1	64578699	0.915000	0.31059	0.082000	0.20525	0.287000	0.27160	1.823000	0.39062	-0.042000	0.13535	0.655000	0.94253	GAA		PASS	0.612	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		7	11	7	11	---	---	---	---
VPS51	738	broad.mit.edu	37	11	64876349	64876349	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:64876349C>T	ENST00000279281.3	+	5	1498	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000279263.7_5'Flank|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	469					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A469V(1)									CTTTTCACCGCCAAAGAGGTG	0.577																																						uc001ocr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)GCC>GTC		chromosome 11 open reading frame 2							45.0	48.0	47.0					11																	64876349		2017	3993	6010	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64876349C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1406C>T	11.37:g.64876349C>T	ENSP00000279281:p.Ala469Val					TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A345V	p.A469V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			5	1446	+			469					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.1406C>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270964	0.40194	.	.	ENSG00000149823	ENST00000279281	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	L	0.36672	1.1	0.80722	D	1	B	0.24533	0.105	B	0.17979	0.02	T	0.36625	-0.9740	8	.	.	.	-32.427	14.3455	0.66658	0.0:1.0:0.0:0.0	.	469	Q9UID3	FFR_HUMAN	V	469	.	.	A	+	2	0	C11orf2	64632925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.448000	0.80631	2.232000	0.73038	0.549000	0.68633	GCC		PASS	0.577	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		9	23	9	23	---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65062097	65062097	+	Silent	SNP	C	C	T	rs377398033		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65062097C>T	ENST00000265465.3	+	15	1965	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	POLA2_ENST00000534785.1_3'UTR|POLA2_ENST00000541089.1_Silent_p.F270F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	478					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)	p.F478F(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ATCTGCTTTTCCACCTGGGGG	0.517																																						uc001odj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1432-1434)TTC>TTT		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)	C		0,4402		0,0,2201	98.0	94.0	95.0		1434	4.2	1.0	11		95	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	POLA2	NM_002689.2		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		478/599	65062097	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65062097C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1434C>T	11.37:g.65062097C>T						POLA2_uc010rod.1_Silent_p.F270F|POLA2_uc001odk.2_Silent_p.F175F	p.F478F	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			15	1776	+			478					B4DNB4|Q9BPV3	Silent	SNP	ENST00000265465.3	37	c.1434C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	7.901	0.734406	0.15574	0.0	2.33E-4	ENSG00000014138	ENST00000525924	.	.	.	5.37	4.25	0.50352	.	.	.	.	.	T	0.57829	0.2080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54430	-0.8295	4	.	.	.	-22.2046	8.2027	0.31434	0.0:0.8132:0.0:0.1868	.	.	.	.	F	148	.	.	S	+	2	0	POLA2	64818673	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	1.948000	0.40303	2.530000	0.85305	0.561000	0.74099	TCC		PASS	0.517	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		13	27	13	27	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65266596	65266596	+	lincRNA	SNP	C	C	T	rs368911648		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65266596C>T	ENST00000534336.1	+	0	1364				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTTTTTTTCTCTTTGAAAGAT	0.423																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.		C		0,1748		0,0,874	47.0	52.0	50.0			-6.6	0.0	11		50	19,3957		0,19,1969	no	intergenic				0,19,2843	TT,TC,CC		0.4779,0.0,0.3319			65266596	19,5705	874	1988	2862			378938							g.chr11:65266596C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266596C>T						MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.1364C>T																																																																																					PASS	0.423	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		12	18	12	18	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65373256	65373256	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65373256G>A	ENST00000530153.1	-	8	1557	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Missense_Mutation_p.P19S|MAP3K11_ENST00000309100.3_Missense_Mutation_p.P603S					mitogen-activated protein kinase kinase kinase 11									p.P603S(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGTGTGGAAGGAGATCCTAAG	0.597																																						uc001oew.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1807-1809)CCT>TCT		mitogen-activated protein kinase kinase kinase							64.0	56.0	58.0					11																	65373256		2201	4297	6498	SO:0001583	missense	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65373256G>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1036C>T	11.37:g.65373256G>A	ENSP00000433886:p.Pro346Ser					MAP3K11_uc001oev.2_Missense_Mutation_p.P19S|MAP3K11_uc010rol.1_Missense_Mutation_p.P346S|MAP3K11_uc001oex.1_Missense_Mutation_p.P110S	p.P603S	NM_002419	NP_002410	Q16584	M3K11_HUMAN			8	2300	-			603			Pro-rich.			Missense_Mutation	SNP	ENST00000530153.1	37	c.1807C>T		.	.	.	.	.	.	.	.	.	.	G	17.66	3.445009	0.63178	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	T;T	0.75704	-0.84;-0.96	5.04	5.04	0.67666	.	0.174164	0.38897	N	0.001540	T	0.71324	0.3326	N	0.11427	0.14	0.42082	D	0.991258	D;D	0.71674	0.998;0.982	D;P	0.66351	0.943;0.61	T	0.71862	-0.4464	10	0.32370	T	0.25	.	13.7587	0.62952	0.0:0.0:1.0:0.0	.	110;603	B3KQY4;Q16584	.;M3K11_HUMAN	S	603;19;346	ENSP00000309597:P603S;ENSP00000433886:P346S	ENSP00000309597:P603S	P	-	1	0	MAP3K11	65129832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.888000	0.63164	2.629000	0.89072	0.655000	0.94253	CCT		PASS	0.597	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			7	25	7	25	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65421986	65421987	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65421986_65421987CC>TT	ENST00000406246.3	-	11	1779_1780	c.1518_1519GG>AA	c.(1516-1521)ggGGcc>ggAAcc	p.A507T	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A504T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	507					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II 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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.A507T(2)|p.G506G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCCTCTGGGCCCCTGTCACTA	0.619																																						uc001ofg.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(3)|ovary(1)	4						c.(1519-1521)GCC>ACC|c.(1516-1518)GGG>GGA		v-rel reticuloendotheliosis viral oncogene																																				SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421986C>T|g.chr11:65421987C>T	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1518_1519delinsTT	11.37:g.65421986_65421987delinsTT	ENSP00000384273:p.Ala507Thr					RELA_uc001ofh.2_Missense_Mutation_p.A504T|RELA_uc010ron.1_Missense_Mutation_p.A518T|RELA_uc009yqr.2_Missense_Mutation_p.A454T|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron|RELA_uc001ofh.2_Silent_p.G503G|RELA_uc010ron.1_Silent_p.G517G|RELA_uc009yqr.2_Silent_p.G453G|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron	p.A507T|p.G506G	NM_021975	NP_068810	Q04206	TF65_HUMAN			11	1659|1658	-			507|506					Q6GTV1|Q6SLK1	Missense_Mutation|Silent	SNP	ENST00000406246.3	37	c.1519G>A|c.1518G>A	CCDS31609.1																																																																																				PASS	0.619	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		16	12	16	12	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65425808	65425808	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65425808G>A	ENST00000406246.3	-	8	1088	c.827C>T	c.(826-828)tCc>tTc	p.S276F	RELA_ENST00000525693.1_Missense_Mutation_p.S276F|RELA_ENST00000308639.9_Missense_Mutation_p.S273F	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	276	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II 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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.S276F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCCCGGTCGGAAGGCCGCCG	0.637																																						uc001ofg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(826-828)TCC>TTC		v-rel reticuloendotheliosis viral oncogene							43.0	40.0	41.0					11																	65425808		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65425808G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.827C>T	11.37:g.65425808G>A	ENSP00000384273:p.Ser276Phe					RELA_uc001ofh.2_Missense_Mutation_p.S273F|RELA_uc010ron.1_Missense_Mutation_p.S287F|RELA_uc009yqr.2_Missense_Mutation_p.S223F|RELA_uc001ofe.2_Missense_Mutation_p.S276F|RELA_uc001off.2_Missense_Mutation_p.S276F|RELA_uc009yqs.1_Intron	p.S276F	NM_021975	NP_068810	Q04206	TF65_HUMAN			8	967	-			276	S->C: Loss of phosphorylation.		RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.827C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938819	0.92526	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062745	0.64402	D	0.000003	T	0.79639	0.4480	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.995;0.98;0.98;0.955;0.997;0.994	D	0.85364	0.1109	10	0.87932	D	0	-19.6916	16.043	0.80698	0.0:0.0:1.0:0.0	.	266;263;273;276;287;276	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	F	276;276;273;287;287	ENSP00000384273:S276F;ENSP00000432537:S276F;ENSP00000311508:S273F;ENSP00000433526:S287F	ENSP00000311508:S273F	S	-	2	0	RELA	65182384	1.000000	0.71417	0.984000	0.44739	0.977000	0.68977	9.629000	0.98417	2.397000	0.81536	0.555000	0.69702	TCC		PASS	0.637	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		3	6	3	6	---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65480520	65480520	+	Silent	SNP	G	G	A	rs201415653		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:65480520G>A	ENST00000377046.3	+	4	548	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KAT5_ENST00000341318.4_Silent_p.E125E|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Silent_p.E92E|KAT5_ENST00000530446.1_Silent_p.E125E	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	92					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.E125E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GCTCTCCAGAGAGAGAGGTGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17125	0.001		0.0	False		,,,				2504	0.0					uc001ofi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)GAG>GAA		K(lysine) acetyltransferase 5 isoform 2							99.0	98.0	98.0					11																	65480520		2201	4297	6498	SO:0001819	synonymous_variant	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65480520G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.276G>A	11.37:g.65480520G>A						KAT5_uc001ofj.2_Silent_p.E92E|KAT5_uc001ofk.2_Silent_p.E125E|KAT5_uc010roo.1_Silent_p.E125E|KAT5_uc001ofl.2_5'UTR	p.E92E	NM_006388	NP_006379	Q92993	KAT5_HUMAN			4	526	+			92					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Silent	SNP	ENST00000377046.3	37	c.276G>A	CCDS31610.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.551	0.286514	0.10513	.	.	ENSG00000172977	ENST00000530605	T	0.39592	1.07	4.37	0.193	0.15139	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13656	-1.0501	7	0.35671	T	0.21	-22.3584	7.8667	0.29541	0.3979:0.0:0.6021:0.0	.	.	.	.	K	89	ENSP00000436247:E89K	ENSP00000436247:E89K	E	+	1	0	KAT5	65237096	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	2.111000	0.41883	0.124000	0.18369	-0.258000	0.10820	GAG		PASS	0.572	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		10	48	10	48	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66192157	66192157	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:66192157C>T	ENST00000311034.2	+	7	1972	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	599					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S599F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGCCCCCTCTCTGTGGATGTC	0.577																																						uc001ohx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1795-1797)TCT>TTT		neuronal PAS domain protein 4							65.0	75.0	71.0					11																	66192157		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192157C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1796C>T	11.37:g.66192157C>T	ENSP00000311196:p.Ser599Phe					NPAS4_uc010rpc.1_Missense_Mutation_p.S389F	p.S599F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1972	+			599					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1796C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888437	0.33348	.	.	ENSG00000174576	ENST00000311034	T	0.38722	1.12	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000039	T	0.18257	0.0438	N	0.08118	0	0.33669	D	0.610703	P	0.39551	0.678	B	0.36885	0.235	T	0.18587	-1.0332	10	0.08381	T	0.77	-12.2258	8.6881	0.34249	0.0:0.8987:0.0:0.1013	.	599	Q8IUM7	NPAS4_HUMAN	F	599	ENSP00000311196:S599F	ENSP00000311196:S599F	S	+	2	0	NPAS4	65948733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.925000	0.48884	2.443000	0.82685	0.655000	0.94253	TCT		PASS	0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		26	41	26	41	---	---	---	---
DPP3	10072	broad.mit.edu	37	11	66260322	66260322	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:66260322C>T	ENST00000360510.2	+	10	1189	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	DPP3_ENST00000530165.1_Missense_Mutation_p.S345F|DPP3_ENST00000453114.1_Missense_Mutation_p.S375F|DPP3_ENST00000531863.1_Missense_Mutation_p.S395F|DPP3_ENST00000532677.1_Missense_Mutation_p.S394F|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.S375F			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	375					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S375F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GACTTCACCTCCCTGGATGTT	0.617																																						uc001oig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1123-1125)TCC>TTC		dipeptidyl peptidase III							90.0	89.0	89.0					11																	66260322		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260322C>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1124C>T	11.37:g.66260322C>T	ENSP00000353701:p.Ser375Phe					DPP3_uc001oif.1_Missense_Mutation_p.S375F|DPP3_uc010rpe.1_Missense_Mutation_p.S364F	p.S375F	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN			10	1186	+			375					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1124C>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814420	0.90790	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75216	-0.3396	10	0.87932	D	0	.	16.7094	0.85381	0.0:1.0:0.0:0.0	.	394;375	G3V1D3;Q9NY33	.;DPP3_HUMAN	F	395;394;375;375;375;345;273	ENSP00000432782:S395F;ENSP00000435284:S394F;ENSP00000353701:S375F;ENSP00000389943:S375F;ENSP00000440502:S375F;ENSP00000436941:S345F	ENSP00000353701:S375F	S	+	2	0	DPP3	66016898	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.152000	0.77419	2.535000	0.85469	0.655000	0.94253	TCC		PASS	0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			10	65	10	65	---	---	---	---
CTSF	8722	broad.mit.edu	37	11	66330597	66330597	+	IGR	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:66330597G>A	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGGGATCCGGGGCCCCGGCT	0.632																																						uc001oio.1																			0					0						c.(2638-2640)GGG>GAG		actinin, alpha 3							38.0	43.0	41.0					11																	66330597		1927	4120	6047	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330597G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330597G>A						ACTN3_uc010rpi.1_RNA	p.G880E	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			22	2657	+			880					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.2639G>A	CCDS8144.1																																																																																				PASS	0.632	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		16	11	16	11	---	---	---	---
CARNS1	57571	broad.mit.edu	37	11	67191509	67191509	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67191509G>A	ENST00000307823.3	+	9	2373	c.1921G>A	c.(1921-1923)Gcg>Acg	p.A641T	CARNS1_ENST00000423745.2_Missense_Mutation_p.A641T|CARNS1_ENST00000445895.2_Missense_Mutation_p.A764T|CARNS1_ENST00000531040.1_Missense_Mutation_p.A738T	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	641	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)	p.A764T(1)|p.A199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CACTGAGACGGCGGCCTGCAT	0.642																																						uc009yrp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1921-1923)GCG>ACG		ATP-grasp domain containing 1							68.0	73.0	72.0					11																	67191509		2082	4195	6277	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191509G>A		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1921G>A	11.37:g.67191509G>A	ENSP00000308268:p.Ala641Thr					PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.A780T	p.A641T	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN			9	2373	+			641			ATP-grasp.		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.1921G>A	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559676	0.65538	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.07	5.07	0.68467	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);ATP-grasp fold, subdomain 2 (1);	0.097634	0.42420	N	0.000707	D	0.97986	0.9337	L	0.48362	1.52	0.44956	D	0.997979	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98308	1.0522	10	0.42905	T	0.14	-14.9571	17.2144	0.86939	0.0:0.0:1.0:0.0	.	641;780	A5YM72;A5YM72-3	CRNS1_HUMAN;.	T	738;641;738;641;764	ENSP00000431670:A738T;ENSP00000308268:A641T;ENSP00000401519:A641T;ENSP00000389009:A764T	ENSP00000308268:A641T	A	+	1	0	CARNS1	66948085	0.998000	0.40836	0.185000	0.23176	0.693000	0.40251	4.033000	0.57282	2.364000	0.80123	0.549000	0.68633	GCG		PASS	0.642	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		7	10	7	10	---	---	---	---
GPR152	390212	broad.mit.edu	37	11	67220115	67220115	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67220115G>A	ENST00000312457.2	-	1	85	c.81C>T	c.(79-81)ccC>ccT	p.P27P	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P27P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCACCTTGGGGGTAGGAGT	0.652																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)CCC>CCT		G protein-coupled receptor 152							51.0	52.0	52.0					11																	67220115		2195	4286	6481	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67220115G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.81C>T	11.37:g.67220115G>A						uc009yrw.1_RNA|CABP4_uc001oln.2_5'UTR|CABP4_uc001olo.2_5'Flank	p.P27P	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	86	-			27			Extracellular (Potential).		Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.81C>T	CCDS8165.1																																																																																				PASS	0.652	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			5	10	5	10	---	---	---	---
CABP2	51475	broad.mit.edu	37	11	67287398	67287398	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67287398C>T	ENST00000294288.4	-	6	572	c.503G>A	c.(502-504)gGg>gAg	p.G168E	CABP2_ENST00000353903.5_Missense_Mutation_p.G111E	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	168	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G168E(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GCGGCCGTCCCCATTGGTGTC	0.687																																						uc001omc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(502-504)GGG>GAG		calcium binding protein 2 isoform 1							32.0	30.0	31.0					11																	67287398		2198	4294	6492	SO:0001583	missense	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287398C>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.503G>A	11.37:g.67287398C>T	ENSP00000294288:p.Gly168Glu					CABP2_uc001omd.1_Missense_Mutation_p.G111E|CABP2_uc001ome.1_Missense_Mutation_p.G174E	p.G168E	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN			6	605	-			168			EF-hand 3.|2 (Potential).			Missense_Mutation	SNP	ENST00000294288.4	37	c.503G>A	CCDS8170.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620426	0.66787	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.74315	-0.83;-0.83	4.18	4.18	0.49190	EF-hand-like domain (1);	0.068480	0.64402	D	0.000019	D	0.85570	0.5727	M	0.86805	2.84	0.58432	D	0.999999	D;P;B	0.56968	0.978;0.5;0.376	P;B;B	0.59288	0.855;0.141;0.196	D	0.88914	0.3361	10	0.87932	D	0	-10.035	15.2856	0.73826	0.0:1.0:0.0:0.0	.	174;111;168	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	E	111;168	ENSP00000312037:G111E;ENSP00000294288:G168E	ENSP00000294288:G168E	G	-	2	0	CABP2	67043974	0.850000	0.29656	0.889000	0.34880	0.841000	0.47740	6.928000	0.75846	2.180000	0.69256	0.462000	0.41574	GGG		PASS	0.687	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1			4	8	4	8	---	---	---	---
GSTP1	2950	broad.mit.edu	37	11	67353902	67353902	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67353902C>T	ENST00000398606.3	+	7	736	c.487C>T	c.(487-489)Cat>Tat	p.H163Y	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Missense_Mutation_p.H127Y	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	163	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)	p.H163Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GCTGCTGATCCATGAGGTCCT	0.652																																						uc001omf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(487-489)CAT>TAT		glutathione transferase	Ethacrynic acid(DB00903)|Glutathione(DB00143)						53.0	57.0	56.0					11																	67353902		2119	4242	6361	SO:0001583	missense	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353902C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.487C>T	11.37:g.67353902C>T	ENSP00000381607:p.His163Tyr					GSTP1_uc001omg.1_Missense_Mutation_p.H144Y	p.H163Y	NM_000852	NP_000843	P09211	GSTP1_HUMAN			7	736	+			163			GST C-terminal.		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	ENST00000398606.3	37	c.487C>T	CCDS41679.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704353	0.30232	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.02032	4.49;4.49	5.15	5.15	0.70609	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.073888	0.56097	D	0.000026	T	0.09379	0.0231	M	0.64260	1.97	0.44515	D	0.997463	D	0.61697	0.99	D	0.65874	0.939	T	0.14699	-1.0463	9	0.39692	T	0.17	-57.7482	14.1239	0.65208	0.0:1.0:0.0:0.0	.	163	P09211	GSTP1_HUMAN	Y	163;127	ENSP00000381607:H163Y;ENSP00000381604:H127Y	ENSP00000381604:H127Y	H	+	1	0	GSTP1	67110478	0.999000	0.42202	0.993000	0.49108	0.080000	0.17528	5.185000	0.65076	2.393000	0.81446	0.563000	0.77884	CAT		PASS	0.652	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		6	17	6	17	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67782875	67782875	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67782875C>T	ENST00000539229.1	+	2	224	c.108C>T	c.(106-108)ttC>ttT	p.F36F	ALDH3B1_ENST00000316367.6_Silent_p.F36F|ALDH3B1_ENST00000342456.6_Silent_p.F36F|ALDH3B1_ENST00000007633.8_Silent_p.F36F|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	36					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										TGGGCCGCTTCCTGCAAGAAA	0.697																																						uc010rpy.1																			0					0						c.(106-108)TTC>TTT		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						8.0	10.0	10.0					11																	67782875		1978	4080	6058	SO:0001819	synonymous_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67782875C>T	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.108C>T	11.37:g.67782875C>T						ALDH3B1_uc001omy.1_Silent_p.F36F|ALDH3B1_uc001omz.2_Silent_p.F36F|ALDH3B1_uc001ona.2_Silent_p.F36F|ALDH3B1_uc001onb.2_5'Flank	p.F36F	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			2	224	+			36					A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	ENST00000539229.1	37	c.108C>T																																																																																					PASS	0.697	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		3	4	3	4	---	---	---	---
ALDH3B1	221	broad.mit.edu	37	11	67789267	67789267	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67789267G>A	ENST00000539229.1	+	8	989	c.873G>A	c.(871-873)caG>caA	p.Q291Q	ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Silent_p.Q255Q|ALDH3B1_ENST00000007633.8_Silent_p.Q291Q|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	292					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										AACAGTTCCAGCGGCTGCGGG	0.647																																						uc010rpy.1																			0					0						c.(874-876)CAG>CAA		aldehyde dehydrogenase 3B1 isoform a	NADH(DB00157)						56.0	67.0	63.0					11																	67789267		2200	4294	6494	SO:0001819	synonymous_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67789267G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.873G>A	11.37:g.67789267G>A						ALDH3B1_uc001omz.2_Silent_p.Q292Q|ALDH3B1_uc001ona.2_Silent_p.Q255Q|ALDH3B1_uc001onb.2_RNA	p.Q292Q	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN			8	992	+			292					A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	ENST00000539229.1	37	c.876G>A																																																																																					PASS	0.647	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		6	26	6	26	---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67800726	67800726	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67800726C>T	ENST00000313468.5	+	5	455	c.348C>T	c.(346-348)ctC>ctT	p.L116L	NDUFS8_ENST00000528492.1_Intron|RP5-901A4.1_ENST00000532296.1_RNA|MIR4691_ENST00000583764.1_RNA	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	116	4Fe-4S ferredoxin-type 1.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.L116L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CCTGCAAGCTCTGCGAGGCCA	0.706																																					Colon(116;1205 2770 20054)	uc001onc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(346-348)CTC>CTT		NADH dehydrogenase ubiquinone Fe-S 8 precursor	NADH(DB00157)						25.0	25.0	25.0					11																	67800726		2197	4288	6485	SO:0001819	synonymous_variant	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67800726C>T	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.348C>T	11.37:g.67800726C>T						NDUFS8_uc010rpz.1_Silent_p.L116L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.L116L	p.L116L	NM_002496	NP_002487	O00217	NDUS8_HUMAN			5	455	+			116			4Fe-4S ferredoxin-type 1.		B2RB86|Q0VDA8	Silent	SNP	ENST00000313468.5	37	c.348C>T	CCDS8176.1																																																																																				PASS	0.706	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		4	6	4	6	---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67833299	67833299	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67833299G>A	ENST00000265689.4	-	9	1105	c.1079C>T	c.(1078-1080)cCt>cTt	p.P360L	CHKA_ENST00000356135.5_Missense_Mutation_p.P342L	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	360					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)	p.P360L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TCTGAAAAAAGGGTATTTTTC	0.373																																						uc001onj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1078-1080)CCT>CTT		choline kinase alpha isoform a	Choline(DB00122)						125.0	122.0	123.0					11																	67833299		2200	4294	6494	SO:0001583	missense	1119				lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	g.chr11:67833299G>A	D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1079C>T	11.37:g.67833299G>A	ENSP00000265689:p.Pro360Leu					CHKA_uc001onk.2_Missense_Mutation_p.P342L	p.P360L	NM_001277	NP_001268	P35790	CHKA_HUMAN			9	1293	-			360					Q8NE29	Missense_Mutation	SNP	ENST00000265689.4	37	c.1079C>T	CCDS8178.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174146	0.94807	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	T;T	0.61040	0.14;0.14	5.5	5.5	0.81552	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87870	0.2670	10	0.72032	D	0.01	-6.2042	19.3873	0.94563	0.0:0.0:1.0:0.0	.	342;360	P35790-2;P35790	.;CHKA_HUMAN	L	360;342	ENSP00000265689:P360L;ENSP00000348454:P342L	ENSP00000265689:P360L	P	-	2	0	CHKA	67589875	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	9.644000	0.98468	2.590000	0.87494	0.491000	0.48974	CCT		PASS	0.373	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394570.1	NM_001277		10	20	10	20	---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67925262	67925262	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:67925262G>A	ENST00000304363.4	-	11	2904	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	851					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P851S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGAGGAAGAGGAATAAAATCG	0.393																																						uc001onm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(2551-2553)CCT>TCT		suppressor of variegation 4-20 homolog 1 isoform							85.0	86.0	85.0					11																	67925262		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925262G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2551C>T	11.37:g.67925262G>A	ENSP00000305899:p.Pro851Ser					SUV420H1_uc009yse.1_Missense_Mutation_p.P437S|SUV420H1_uc001onn.1_Missense_Mutation_p.P679S|SUV420H1_uc009ysf.2_Missense_Mutation_p.P611S	p.P851S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2807	-			851					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2551C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181023	0.78677	.	.	ENSG00000110066	ENST00000304363	T	0.69435	-0.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78056	-0.2353	10	0.87932	D	0	-16.3418	19.8464	0.96708	0.0:0.0:1.0:0.0	.	851	Q4FZB7	SV421_HUMAN	S	851	ENSP00000305899:P851S	ENSP00000305899:P851S	P	-	1	0	SUV420H1	67681838	1.000000	0.71417	0.321000	0.25320	0.995000	0.86356	9.329000	0.96413	2.710000	0.92621	0.491000	0.48974	CCT		PASS	0.393	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		11	20	11	20	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68115552	68115552	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:68115552C>T	ENST00000294304.7	+	2	435	c.329C>T	c.(328-330)cCc>cTc	p.P110L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	110	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P110L(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGTCTCTCCCGACGGCCTC	0.632																																						uc001ont.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(328-330)CCC>CTC		low density lipoprotein receptor-related protein							117.0	101.0	106.0					11																	68115552		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68115552C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.329C>T	11.37:g.68115552C>T	ENSP00000294304:p.Pro110Leu					LRP5_uc009ysg.2_5'UTR	p.P110L	NM_002335	NP_002326	O75197	LRP5_HUMAN			2	404	+			110			Beta-propeller 1.|LDL-receptor class B 1.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.329C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159260	0.57368	.	.	ENSG00000162337	ENST00000294304	D	0.93307	-3.2	3.71	3.71	0.42584	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	U	0.000169	D	0.97436	0.9161	H	0.94964	3.605	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.98808	1.0742	10	0.87932	D	0	.	16.0516	0.80765	0.0:1.0:0.0:0.0	.	110	O75197	LRP5_HUMAN	L	110	ENSP00000294304:P110L	ENSP00000294304:P110L	P	+	2	0	LRP5	67872128	1.000000	0.71417	0.715000	0.30552	0.032000	0.12392	7.556000	0.82233	2.067000	0.61834	0.561000	0.74099	CCC		PASS	0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		34	40	34	40	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68115652	68115652	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:68115652G>A	ENST00000294304.7	+	2	535	c.429G>A	c.(427-429)aaG>aaA	p.K143K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	143	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.K143K(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCCGGAAGGTGCTCTTCT	0.662																																						uc001ont.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(427-429)AAG>AAA		low density lipoprotein receptor-related protein							78.0	78.0	78.0					11																	68115652		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68115652G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.429G>A	11.37:g.68115652G>A						LRP5_uc009ysg.2_5'UTR	p.K143K	NM_002335	NP_002326	O75197	LRP5_HUMAN			2	504	+			143			Beta-propeller 1.|LDL-receptor class B 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.429G>A	CCDS8181.1																																																																																				PASS	0.662	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		23	38	23	38	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68822765	68822765	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:68822765C>A	ENST00000294309.3	+	4	475	c.374C>A	c.(373-375)aCc>aAc	p.T125N	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.T125N	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	125					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.T125N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGCGGCCTGACCGAGAGTGTC	0.662																																						uc001oos.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)ACC>AAC		two pore segment channel 2							80.0	76.0	77.0					11																	68822765		2199	4294	6493	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822765C>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.374C>A	11.37:g.68822765C>A	ENSP00000294309:p.Thr125Asn					TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.T125N	p.T125N	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	490	+			125			Extracellular (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.374C>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876168	0.72180	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97575	-4.44;-4.44	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;D	0.72075	0.976;0.949	D	0.98336	1.0536	10	0.45353	T	0.12	-28.4064	18.1761	0.89761	0.0:1.0:0.0:0.0	.	125;125	E7ETX0;Q8NHX9	.;TPC2_HUMAN	N	55;125;125	ENSP00000294309:T125N;ENSP00000445551:T125N	ENSP00000294309:T125N	T	+	2	0	TPCN2	68579341	1.000000	0.71417	0.934000	0.37439	0.253000	0.25986	4.827000	0.62723	2.471000	0.83476	0.561000	0.74099	ACC		PASS	0.662	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		4	15	4	15	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063187	69063187	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:69063187G>A	ENST00000308946.3	+	3	720	c.270G>A	c.(268-270)gtG>gtA	p.V90V	MYEOV_ENST00000441339.2_Silent_p.V90V|MYEOV_ENST00000535407.1_Silent_p.V32V	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	90								p.V90V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGTTGCGGTGAGAGGAGCAT	0.637																																						uc001oov.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)GTG>GTA		myeloma overexpressed							80.0	82.0	81.0					11																	69063187		2200	4294	6494	SO:0001819	synonymous_variant	26579							g.chr11:69063187G>A	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.270G>A	11.37:g.69063187G>A						MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Silent_p.V90V|MYEOV_uc001oow.2_Silent_p.V32V	p.V90V	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	720	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		90					Q9UGN6|Q9UGN7	Silent	SNP	ENST00000308946.3	37	c.270G>A	CCDS8190.1																																																																																				PASS	0.637	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			9	41	9	41	---	---	---	---
FGF3	2248	broad.mit.edu	37	11	69631136	69631136	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:69631136G>A	ENST00000334134.2	-	2	366	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	92					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.F92F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			ACCGCCCGGAGAAGAGACCCC	0.612																																						uc001oph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(274-276)TTC>TTT		fibroblast growth factor 3 precursor							159.0	134.0	142.0					11																	69631136		2200	4294	6494	SO:0001819	synonymous_variant	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69631136G>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.276C>T	11.37:g.69631136G>A							p.F92F	NM_005247	NP_005238	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	767	-			92					Q0VG69	Silent	SNP	ENST00000334134.2	37	c.276C>T	CCDS8195.1																																																																																				PASS	0.612	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		21	35	21	35	---	---	---	---
ANO1	55107	broad.mit.edu	37	11	70033894	70033894	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:70033894C>T	ENST00000355303.5	+	26	3050	c.2745C>T	c.(2743-2745)atC>atT	p.I915I	ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000531349.1_Silent_p.I624I|ANO1_ENST00000530676.1_Silent_p.I769I|ANO1_ENST00000538023.1_Silent_p.I915I|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Silent_p.I769I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	915					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.I915I(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TCCCGGACATCCCCAAGGACA	0.582																																						uc001opj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2743-2745)ATC>ATT		anoctamin 1, calcium activated chloride channel							42.0	48.0	46.0					11																	70033894		2117	4239	6356	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70033894C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2745C>T	11.37:g.70033894C>T						ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I624I|ANO1_uc010rql.1_Silent_p.I89I	p.I915I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			26	3050	+			915			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2745C>T	CCDS44663.1																																																																																				PASS	0.582	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		7	15	7	15	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70319386	70319386	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:70319386G>A	ENST00000423696.2	-	16	4037	c.4001C>T	c.(4000-4002)tCg>tTg	p.S1334L	SHANK2_ENST00000409161.1_Missense_Mutation_p.S1117L|SHANK2_ENST00000449833.2_Missense_Mutation_p.S1118L|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1714L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1334					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.S1118L(1)|p.S1714L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTCTGTTGGCGAGACCACAGG	0.632																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5137-5139)TCG>TTG		SH3 and multiple ankyrin repeat domains 2							55.0	58.0	57.0					11																	70319386		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319386G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4001C>T	11.37:g.70319386G>A	ENSP00000394536:p.Ser1334Leu					SHANK2_uc010rqn.1_Missense_Mutation_p.S1125L|SHANK2_uc001opz.2_Missense_Mutation_p.S1118L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.S49L	p.S1713L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5216	-			1334					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5138C>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.754557	0.89843	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.41065	2.3;2.33;3.04;1.01;2.42;2.45	5.91	5.91	0.95273	.	0.160607	0.52532	D	0.000080	T	0.60431	0.2268	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;D;D	0.83275	0.73;0.996;0.925	T	0.51671	-0.8676	10	0.34782	T	0.22	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1334;1713;1118	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1118;1117;992;1714;1334;1352;1337	ENSP00000399423:S1118L;ENSP00000386491:S1117L;ENSP00000402944:S992L;ENSP00000345193:S1714L;ENSP00000394536:S1334L;ENSP00000294018:S1337L	ENSP00000294018:S1337L	S	-	2	0	SHANK2	69997034	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.206000	0.77891	2.799000	0.96334	0.650000	0.86243	TCG		PASS	0.632	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		6	22	6	22	---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72712089	72712089	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:72712089G>A	ENST00000409418.4	-	5	716	c.333C>T	c.(331-333)ttC>ttT	p.F111F	FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Silent_p.F55F|FCHSD2_ENST00000311172.7_Silent_p.F55F|FCHSD2_ENST00000409314.1_Silent_p.F111F	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	111								p.F111F(1)|p.F55F(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTCAGAAATGAAGTTTTTAT	0.363																																						uc009ytl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(331-333)TTC>TTT		FCH and double SH3 domains 2							70.0	69.0	69.0					11																	72712089		2200	4293	6493	SO:0001819	synonymous_variant	9873						protein binding	g.chr11:72712089G>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.333C>T	11.37:g.72712089G>A						FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Silent_p.F55F|FCHSD2_uc001oti.2_Silent_p.F70F	p.F111F	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		5	554	-			111					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	c.333C>T	CCDS8218.2																																																																																				PASS	0.363	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		9	15	9	15	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73076728	73076728	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:73076728G>A	ENST00000263674.3	+	20	6081	c.5731G>A	c.(5731-5733)Gat>Aat	p.D1911N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1911					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1911N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCAGGCTCGGATGCCATCAT	0.637																																						uc001otu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5731-5733)GAT>AAT		Rho guanine nucleotide exchange factor (GEF) 17							46.0	46.0	46.0					11																	73076728		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076728G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5731G>A	11.37:g.73076728G>A	ENSP00000263674:p.Asp1911Asn						p.D1911N	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			20	5752	+			1911					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5731G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602668	0.87157	.	.	ENSG00000110237	ENST00000263674	T	0.60672	0.17	5.28	4.34	0.51931	WD40 repeat-like-containing domain (1);	0.099573	0.64402	D	0.000002	T	0.74801	0.3764	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.78285	-0.2263	10	0.59425	D	0.04	-20.978	14.2298	0.65885	0.0:0.0:0.8499:0.1501	.	1911	Q96PE2	ARHGH_HUMAN	N	1911	ENSP00000263674:D1911N	ENSP00000263674:D1911N	D	+	1	0	ARHGEF17	72754376	1.000000	0.71417	0.547000	0.28179	0.909000	0.53808	9.246000	0.95438	1.402000	0.46780	0.655000	0.94253	GAT		PASS	0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		8	13	8	13	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75298965	75298965	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:75298965C>T	ENST00000304771.3	-	4	2331	c.1581G>A	c.(1579-1581)aaG>aaA	p.K527K	MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Silent_p.K198K|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	527	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.K527K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GACCTTGGTCCTTGACTGGTG	0.483																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1579-1581)AAG>AAA		microtubule-associated protein 6 isoform 1							167.0	161.0	163.0					11																	75298965		2200	4293	6493	SO:0001819	synonymous_variant	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298965C>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1581G>A	11.37:g.75298965C>T							p.K527K	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	1646	-	Ovarian(111;0.11)		527			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	c.1581G>A	CCDS31641.1																																																																																				PASS	0.483	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		7	64	7	64	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75438599	75438599	+	Silent	SNP	G	G	C	rs376957357		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:75438599G>C	ENST00000198801.5	+	3	460	c.390G>C	c.(388-390)tcG>tcC	p.S130S	MOGAT2_ENST00000526712.1_Silent_p.S48S	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	130					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.S130S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GCTTCTCTTCGATCTTCCCCG	0.572																																						uc010rru.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(388-390)TCG>TCC		monoacylglycerol O-acyltransferase 2							118.0	109.0	112.0					11																	75438599		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438599G>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.390G>C	11.37:g.75438599G>C						MOGAT2_uc001oww.1_Silent_p.S130S|MOGAT2_uc010rrv.1_Silent_p.S48S	p.S130S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			3	390	+	Ovarian(111;0.103)		130					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.390G>C	CCDS8240.1																																																																																				PASS	0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		21	26	21	26	---	---	---	---
DGAT2	84649	broad.mit.edu	37	11	75501768	75501768	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:75501768C>T	ENST00000228027.7	+	4	681	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	DGAT2_ENST00000376262.3_Missense_Mutation_p.P98S	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	141					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.P141S(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGACTACTTTCCCATCCAGGT	0.527																																					Melanoma(35;811 1096 8354 24009 39363)	uc001oxa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CCC>TCC		diacylglycerol O-acyltransferase 2							187.0	157.0	167.0					11																	75501768		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75501768C>T		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.421C>T	11.37:g.75501768C>T	ENSP00000228027:p.Pro141Ser					DGAT2_uc001oxb.2_Missense_Mutation_p.P98S	p.P141S	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN			4	680	+	Ovarian(111;0.103)		141			Cytoplasmic (Potential).		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.421C>T	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833154	0.91036	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.35048	1.33;1.33	5.72	5.72	0.89469	.	0.049328	0.85682	D	0.000000	T	0.66197	0.2765	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74023	0.982;0.921	T	0.71341	-0.4622	10	0.72032	D	0.01	-41.3894	17.3907	0.87430	0.0:1.0:0.0:0.0	.	98;141	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	S	50;50;141;98;95;50	ENSP00000228027:P141S;ENSP00000365438:P98S	ENSP00000228027:P141S	P	+	1	0	DGAT2	75179416	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.259000	0.78381	2.691000	0.91804	0.655000	0.94253	CCC		PASS	0.527	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		12	19	12	19	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76255758	76255758	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:76255758C>T	ENST00000529032.1	+	18	3165	c.3165C>T	c.(3163-3165)ctC>ctT	p.L1055L	C11orf30_ENST00000533248.1_Silent_p.L964L|C11orf30_ENST00000524767.1_Silent_p.L1070L|C11orf30_ENST00000334736.3_Silent_p.L1055L|C11orf30_ENST00000524490.1_Silent_p.L957L|C11orf30_ENST00000525038.1_Silent_p.L1056L|C11orf30_ENST00000525919.1_Silent_p.L1056L|C11orf30_ENST00000343878.3_Silent_p.L1055L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1055	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L1055L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CGCAGCAGCTCCCTAAACTGC	0.547																																						uc001oxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(3163-3165)CTC>CTT		EMSY protein							103.0	112.0	109.0					11																	76255758		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255758C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3165C>T	11.37:g.76255758C>T						C11orf30_uc001oxm.2_Silent_p.L957L|C11orf30_uc010rsb.1_Silent_p.L1070L|C11orf30_uc010rsc.1_Silent_p.L1056L|C11orf30_uc001oxn.2_Silent_p.L1056L|C11orf30_uc010rsd.1_Silent_p.L964L|C11orf30_uc001oxo.1_Silent_p.L409L|C11orf30_uc010rse.1_Silent_p.L302L|C11orf30_uc001oxp.2_Silent_p.L155L	p.L1055L	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			19	3308	+			1055			Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.3165C>T	CCDS8244.1																																																																																				PASS	0.547	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		28	71	28	71	---	---	---	---
TSKU	25987	broad.mit.edu	37	11	76506861	76506861	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:76506861C>T	ENST00000527881.1	+	2	1227	c.201C>T	c.(199-201)tcC>tcT	p.S67S	TSKU_ENST00000333090.4_Silent_p.S67S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	67					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.S67S(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					ACCTGTCCTCCAACCGGCTGG	0.632																																						uc001oxt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)TCC>TCT		tsukushin precursor							80.0	66.0	70.0					11																	76506861		2200	4292	6492	SO:0001819	synonymous_variant	25987					extracellular region		g.chr11:76506861C>T	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.201C>T	11.37:g.76506861C>T							p.S67S	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	373	+	Ovarian(111;0.112)		67			LRR 1.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	c.201C>T	CCDS8246.1																																																																																				PASS	0.632	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		17	23	17	23	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76867051	76867051	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:76867051G>A	ENST00000409709.3	+	5	656	c.384G>A	c.(382-384)ggG>ggA	p.G128G	MYO7A_ENST00000409619.2_Silent_p.G117G|MYO7A_ENST00000409893.1_Silent_p.G128G|MYO7A_ENST00000458637.2_Silent_p.G128G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	128	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.G128G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGAAGATTGGGGAGATGCCCC	0.562																																						uc001oyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(382-384)GGG>GGA		myosin VIIA isoform 1							46.0	49.0	48.0					11																	76867051		2070	4226	6296	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76867051G>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.384G>A	11.37:g.76867051G>A						MYO7A_uc010rsl.1_Silent_p.G128G|MYO7A_uc010rsm.1_Silent_p.G117G|MYO7A_uc001oyc.2_Silent_p.G128G	p.G128G	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			5	656	+			128			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.384G>A	CCDS53683.1																																																																																				PASS	0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	16	5	16	---	---	---	---
TMEM126B	55863	broad.mit.edu	37	11	85347169	85347169	+	Missense_Mutation	SNP	A	A	G	rs181963507		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:85347169A>G	ENST00000358867.6	+	5	612	c.589A>G	c.(589-591)Atg>Gtg	p.M197V	TMEM126B_ENST00000393375.1_Missense_Mutation_p.M167V|TMEM126B_ENST00000534341.1_3'UTR	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	197						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.M167V(1)		kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AATGAAATTAATGGCGATTCC	0.338													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					uc001pao.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)ATG>GTG		transmembrane protein 126B							100.0	89.0	93.0					11																	85347169		2203	4298	6501	SO:0001583	missense	55863					integral to membrane		g.chr11:85347169A>G		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.589A>G	11.37:g.85347169A>G	ENSP00000351737:p.Met197Val					TMEM126B_uc001pap.2_Missense_Mutation_p.M167V|TMEM126B_uc001paq.1_3'UTR	p.M167V	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			6	751	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	197					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.499A>G	CCDS8267.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	13.90	2.374262	0.42105	.	.	ENSG00000171204	ENST00000358867;ENST00000393375	T;T	0.39787	1.06;1.06	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.81497	2.545	0.49051	D	0.999744	D	0.76494	0.999	D	0.81914	0.995	T	0.67321	-0.5700	9	.	.	.	.	11.7153	0.51650	1.0:0.0:0.0:0.0	.	197	Q8IUX1	T126B_HUMAN	V	197;167	ENSP00000351737:M197V;ENSP00000377039:M167V	.	M	+	1	0	TMEM126B	85024817	1.000000	0.71417	0.964000	0.40570	0.013000	0.08279	4.919000	0.63383	2.254000	0.74563	0.533000	0.62120	ATG		PASS	0.338	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		9	38	9	38	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424219	89424219	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:89424219G>A	ENST00000532352.1	+	0	1682							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R290Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTGATTGTCGAGATTATGCT	0.373																																						uc001pda.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(868-870)CGA>CAA		folate hydrolase 1B							72.0	66.0	68.0					11																	89424219		2200	4297	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424219G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424219G>A							p.R290Q	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			11	1395	+			290						Missense_Mutation	SNP	ENST00000532352.1	37	c.869G>A																																																																																					PASS	0.373	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	45	10	45	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087415	92087415	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92087415C>T	ENST00000298047.6	+	1	2154	c.2137C>T	c.(2137-2139)Ctt>Ttt	p.L713F	FAT3_ENST00000409404.2_Missense_Mutation_p.L713F|FAT3_ENST00000525166.1_Missense_Mutation_p.L563F|FAT3_ENST00000541502.1_Missense_Mutation_p.L713F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	713					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L713F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATGGATTTCTTGACTTTTA	0.408										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(2137-2139)CTT>TTT		FAT tumor suppressor homolog 3							146.0	150.0	149.0					11																	92087415		1846	4107	5953	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087415C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2137C>T	11.37:g.92087415C>T	ENSP00000298047:p.Leu713Phe	TCGA Ovarian(4;0.039)					p.L713F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2154	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	713			Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2137C>T		.	.	.	.	.	.	.	.	.	.	C	2.200	-0.383194	0.04966	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.47	3.6	0.41247	.	.	.	.	.	T	0.41373	0.1156	N	0.25485	0.75	0.30368	N	0.783165	D	0.56521	0.976	P	0.56127	0.792	T	0.17930	-1.0353	9	0.07325	T	0.83	.	8.0525	0.30585	0.0:0.7585:0.0:0.2415	.	713	Q8TDW7-3	.	F	713;713;713;563	ENSP00000298047:L713F;ENSP00000387040:L713F;ENSP00000443786:L713F;ENSP00000432586:L563F	ENSP00000298047:L713F	L	+	1	0	FAT3	91727063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.253000	0.32886	1.313000	0.45069	0.467000	0.42956	CTT		PASS	0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		41	77	41	77	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92088352	92088352	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92088352C>T	ENST00000298047.6	+	1	3091	c.3074C>T	c.(3073-3075)tCc>tTc	p.S1025F	FAT3_ENST00000409404.2_Missense_Mutation_p.S1025F|FAT3_ENST00000525166.1_Missense_Mutation_p.S875F|FAT3_ENST00000541502.1_Missense_Mutation_p.S1025F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1025	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1025F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATCTGTTTCCTTTGTTGAG	0.458										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3073-3075)TCC>TTC		FAT tumor suppressor homolog 3							100.0	100.0	100.0					11																	92088352		1961	4151	6112	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088352C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3074C>T	11.37:g.92088352C>T	ENSP00000298047:p.Ser1025Phe	TCGA Ovarian(4;0.039)					p.S1025F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3091	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1025			Cadherin 9.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3074C>T		.	.	.	.	.	.	.	.	.	.	C	14.85	2.659593	0.47467	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52295	4.62;4.62;0.67;4.62	5.82	5.82	0.92795	.	.	.	.	.	T	0.60222	0.2252	L	0.47716	1.5	0.36793	D	0.88492	D	0.71674	0.998	D	0.63597	0.916	T	0.66972	-0.5788	9	0.87932	D	0	.	14.6623	0.68882	0.0:0.8552:0.1448:0.0	.	1025	Q8TDW7-3	.	F	1025;1025;1025;875	ENSP00000298047:S1025F;ENSP00000387040:S1025F;ENSP00000443786:S1025F;ENSP00000432586:S875F	ENSP00000298047:S1025F	S	+	2	0	FAT3	91728000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.061000	0.49963	2.767000	0.95098	0.655000	0.94253	TCC		PASS	0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	34	6	34	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92532092	92532092	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92532092G>A	ENST00000298047.6	+	9	5930	c.5913G>A	c.(5911-5913)atG>atA	p.M1971I	FAT3_ENST00000409404.2_Missense_Mutation_p.M1971I|FAT3_ENST00000525166.1_Missense_Mutation_p.M1821I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1971	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M1971I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACCATCATGGTTAAAGAAG	0.413										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(5911-5913)ATG>ATA		FAT tumor suppressor homolog 3							142.0	138.0	140.0					11																	92532092		1937	4126	6063	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532092G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5913G>A	11.37:g.92532092G>A	ENSP00000298047:p.Met1971Ile	TCGA Ovarian(4;0.039)					p.M1971I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5930	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1971			Cadherin 17.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5913G>A		.	.	.	.	.	.	.	.	.	.	G	8.098	0.776056	0.16051	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01647	4.71;4.71;4.71	6.02	5.11	0.69529	.	.	.	.	.	T	0.01421	0.0046	N	0.05383	-0.06	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62487	-0.6844	9	0.21540	T	0.41	.	15.3976	0.74808	0.0665:0.0:0.9335:0.0	.	1971	Q8TDW7-3	.	I	1971;1971;1821	ENSP00000298047:M1971I;ENSP00000387040:M1971I;ENSP00000432586:M1821I	ENSP00000298047:M1971I	M	+	3	0	FAT3	92171740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.365000	0.59486	1.559000	0.49555	0.655000	0.94253	ATG		PASS	0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		29	111	29	111	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533403	92533403	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92533403C>T	ENST00000298047.6	+	9	7241	c.7224C>T	c.(7222-7224)ccC>ccT	p.P2408P	FAT3_ENST00000409404.2_Silent_p.P2408P|FAT3_ENST00000525166.1_Silent_p.P2258P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2408	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2408P(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAGCCCCCCGGGGCCATT	0.443										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7222-7224)CCC>CCT		FAT tumor suppressor homolog 3							81.0	82.0	81.0					11																	92533403		1817	4076	5893	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533403C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7224C>T	11.37:g.92533403C>T		TCGA Ovarian(4;0.039)					p.P2408P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7241	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2408			Cadherin 22.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7224C>T																																																																																					PASS	0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		35	38	35	38	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534585	92534585	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92534585C>T	ENST00000298047.6	+	9	8423	c.8406C>T	c.(8404-8406)atC>atT	p.I2802I	FAT3_ENST00000409404.2_Silent_p.I2802I|FAT3_ENST00000525166.1_Silent_p.I2652I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2802	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2802I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTAGATATCAAGGTATTGG	0.433										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(8404-8406)ATC>ATT		FAT tumor suppressor homolog 3							66.0	64.0	64.0					11																	92534585		1893	4114	6007	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534585C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8406C>T	11.37:g.92534585C>T		TCGA Ovarian(4;0.039)					p.I2802I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	8423	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2802			Extracellular (Potential).|Cadherin 25.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8406C>T																																																																																					PASS	0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		17	19	17	19	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92600132	92600132	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92600132G>A	ENST00000298047.6	+	21	11901	c.11884G>A	c.(11884-11886)Gtg>Atg	p.V3962M	FAT3_ENST00000409404.2_Missense_Mutation_p.V3962M|FAT3_ENST00000525166.1_Missense_Mutation_p.V3812M|FAT3_ENST00000533797.1_Missense_Mutation_p.V297M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3962	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V3962M(2)|p.V537M(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGCGCCCTGGTGCAAGCGGA	0.617										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(11884-11886)GTG>ATG		FAT tumor suppressor homolog 3							24.0	26.0	25.0					11																	92600132		1949	4137	6086	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92600132G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11884G>A	11.37:g.92600132G>A	ENSP00000298047:p.Val3962Met	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.V402M	p.V3962M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			21	11901	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3962			Laminin G-like.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11884G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.876262	0.91664	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.87744	0.6254	M	0.72353	2.195	0.80722	D	1	D;P	0.71674	0.998;0.815	D;P	0.68353	0.957;0.643	D	0.87598	0.2495	9	0.59425	D	0.04	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	3962;3962	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	3962;3962;3812;297	ENSP00000298047:V3962M;ENSP00000387040:V3962M;ENSP00000432586:V3812M;ENSP00000436399:V297M	ENSP00000298047:V3962M	V	+	1	0	FAT3	92239780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.377000	0.97184	2.720000	0.93068	0.561000	0.74099	GTG		PASS	0.617	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	6	5	6	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92616106	92616106	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92616106C>T	ENST00000298047.6	+	23	12501	c.12484C>T	c.(12484-12486)Ctc>Ttc	p.L4162F	FAT3_ENST00000409404.2_Missense_Mutation_p.L4162F|FAT3_ENST00000525166.1_Missense_Mutation_p.L4012F|FAT3_ENST00000533797.1_Missense_Mutation_p.L497F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4162					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L4162F(2)|p.L737F(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGCCGTGGTCCTCTTCGTCAT	0.592										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12484-12486)CTC>TTC		FAT tumor suppressor homolog 3							82.0	106.0	98.0					11																	92616106		2082	4205	6287	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616106C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12484C>T	11.37:g.92616106C>T	ENSP00000298047:p.Leu4162Phe	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.L602F	p.L4162F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12501	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4162			Helical; (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12484C>T		.	.	.	.	.	.	.	.	.	.	C	19.32	3.804941	0.70682	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.87650	-1.18;-1.16;-1.19;-2.28	5.85	5.85	0.93711	.	.	.	.	.	D	0.90916	0.7145	M	0.69823	2.125	0.80722	D	1	D;D	0.60575	0.988;0.984	P;P	0.57776	0.827;0.737	D	0.90323	0.4346	9	0.46703	T	0.11	.	13.3744	0.60730	0.0:0.9282:0.0:0.0718	.	4162;4162	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	F	4162;4162;4012;497	ENSP00000298047:L4162F;ENSP00000387040:L4162F;ENSP00000432586:L4012F;ENSP00000436399:L497F	ENSP00000298047:L4162F	L	+	1	0	FAT3	92255754	0.864000	0.29904	0.681000	0.30009	0.900000	0.52787	1.697000	0.37784	2.770000	0.95276	0.655000	0.94253	CTC		PASS	0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	11	6	11	---	---	---	---
SLC36A4	120103	broad.mit.edu	37	11	92918976	92918976	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:92918976C>T	ENST00000326402.4	-	2	190	c.60G>A	c.(58-60)atG>atA	p.M20I	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	20					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.M20I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATTACATCCATATCTTTAA	0.333																																						uc001pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(58-60)ATG>ATA		solute carrier family 36 (proton/amino acid							74.0	72.0	72.0					11																	92918976		2201	4298	6499	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92918976C>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.60G>A	11.37:g.92918976C>T	ENSP00000317382:p.Met20Ile					SLC36A4_uc001pdm.2_5'UTR	p.M20I	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			2	157	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	20					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.60G>A	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257128	0.59321	.	.	ENSG00000180773	ENST00000326402	T	0.03831	3.79	5.82	5.82	0.92795	.	0.055576	0.64402	D	0.000001	T	0.04588	0.0125	L	0.29908	0.895	0.80722	D	1	P	0.36990	0.577	B	0.28011	0.085	T	0.54603	-0.8269	10	0.27785	T	0.31	-20.7953	17.8709	0.88811	0.0:1.0:0.0:0.0	.	20	Q6YBV0	S36A4_HUMAN	I	20	ENSP00000317382:M20I	ENSP00000317382:M20I	M	-	3	0	SLC36A4	92558624	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.490000	0.66881	2.767000	0.95098	0.585000	0.79938	ATG		PASS	0.333	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			10	33	10	33	---	---	---	---
CCDC67	159989	broad.mit.edu	37	11	93148188	93148188	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:93148188A>T	ENST00000298050.3	+	13	1646	c.1546A>T	c.(1546-1548)Aac>Tac	p.N516Y	CCDC67_ENST00000525646.1_Missense_Mutation_p.N258Y	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	516					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.N508Y(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CTGTGAGCCAAACAGAAGTAC	0.393																																						uc001pdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1546-1548)AAC>TAC		coiled-coil domain containing 67							222.0	208.0	213.0					11																	93148188		1942	4152	6094	SO:0001583	missense	159989							g.chr11:93148188A>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1546A>T	11.37:g.93148188A>T	ENSP00000298050:p.Asn516Tyr					CCDC67_uc001pdo.1_Missense_Mutation_p.N516Y	p.N516Y	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			13	1646	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	516					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.1546A>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	A	6.644	0.487373	0.12641	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.21031	2.03;2.03;2.03	5.46	0.452	0.16634	.	0.750699	0.12906	N	0.429392	T	0.15349	0.0370	L	0.38175	1.15	0.09310	N	0.999992	P;B	0.36315	0.547;0.013	B;B	0.35470	0.203;0.018	T	0.13019	-1.0525	10	0.59425	D	0.04	.	7.8201	0.29282	0.6349:0.0:0.3651:0.0	.	516;508	Q05D60;Q6ZRU6	CCD67_HUMAN;.	Y	516;516;258	ENSP00000432111:N516Y;ENSP00000298050:N516Y;ENSP00000435079:N258Y	ENSP00000298050:N516Y	N	+	1	0	CCDC67	92787836	0.574000	0.26684	0.008000	0.14137	0.011000	0.07611	0.771000	0.26633	-0.102000	0.12197	-0.256000	0.11100	AAC		PASS	0.393	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		28	57	28	57	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94730726	94730726	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:94730726G>A	ENST00000335080.5	+	3	1022	c.190G>A	c.(190-192)Gat>Aat	p.D64N	KDM4D_ENST00000536741.1_Missense_Mutation_p.D64N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	64					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.D64N(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGAGACCTATGATAATATCAG	0.438																																						uc001pfe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAT>AAT		jumonji domain containing 2D							67.0	71.0	70.0					11																	94730726		2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94730726G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.190G>A	11.37:g.94730726G>A	ENSP00000334181:p.Asp64Asn						p.D64N	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1022	+			64					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.190G>A	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	G	9.402	1.078370	0.20227	.	.	ENSG00000186280	ENST00000335080	T	0.50277	0.75	3.76	1.85	0.25348	.	0.077326	0.49305	U	0.000150	T	0.42471	0.1204	M	0.72894	2.215	0.33709	D	0.61557	B	0.20550	0.046	B	0.18263	0.021	T	0.50591	-0.8810	10	0.59425	D	0.04	-22.2331	6.5785	0.22581	0.0998:0.0:0.7216:0.1786	.	64	Q6B0I6	KDM4D_HUMAN	N	64	ENSP00000334181:D64N	ENSP00000334181:D64N	D	+	1	0	KDM4D	94370374	1.000000	0.71417	0.049000	0.19019	0.071000	0.16799	5.336000	0.65935	0.551000	0.29008	-0.314000	0.08810	GAT		PASS	0.438	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		8	53	8	53	---	---	---	---
ENDOD1	23052	broad.mit.edu	37	11	94862074	94862074	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:94862074A>G	ENST00000278505.4	+	2	952	c.834A>G	c.(832-834)aaA>aaG	p.K278K		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	278						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K278K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ACACAGAGAAAATGAAAAAAA	0.403																																						uc001pfh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)AAA>AAG		endonuclease domain containing 1 precursor							71.0	69.0	70.0					11																	94862074		1846	4087	5933	SO:0001819	synonymous_variant	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862074A>G	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.834A>G	11.37:g.94862074A>G							p.K278K	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	909	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	278					A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	c.834A>G	CCDS41699.1																																																																																				PASS	0.403	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		20	49	20	49	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99690452	99690452	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:99690452C>T	ENST00000524871.1	+	4	523	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S78F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S78F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S78F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	78					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S78F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTATTATTCCCCCATCAAT	0.438																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(232-234)TCC>TTC		contactin 5 isoform long							60.0	60.0	60.0					11																	99690452		1891	4091	5982	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690452C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.233C>T	11.37:g.99690452C>T	ENSP00000435637:p.Ser78Phe					CNTN5_uc009ywv.1_Missense_Mutation_p.S78F|CNTN5_uc001pfz.2_Missense_Mutation_p.S78F|CNTN5_uc001pgb.2_Intron	p.S78F	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	572	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	78					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.233C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868443	0.51588	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.61158	0.13;0.19;0.19;0.19	5.06	4.06	0.47325	.	0.478171	0.19899	N	0.103545	T	0.44371	0.1290	N	0.19112	0.55	0.34704	D	0.727044	P;P	0.37864	0.567;0.61	B;B	0.38327	0.271;0.248	T	0.60581	-0.7235	10	0.52906	T	0.07	.	14.1555	0.65415	0.1504:0.8496:0.0:0.0	.	78;78	E9PKE8;O94779	.;CNTN5_HUMAN	F	78	ENSP00000433575:S78F;ENSP00000436185:S78F;ENSP00000435637:S78F;ENSP00000279463:S78F	ENSP00000279463:S78F	S	+	2	0	CNTN5	99195662	0.060000	0.20803	0.340000	0.25575	0.566000	0.35808	1.755000	0.38379	2.735000	0.93741	0.650000	0.86243	TCC		PASS	0.438	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		5	21	5	21	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100933363	100933363	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:100933363G>A	ENST00000325455.5	-	4	3480	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.S82L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	676					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S676L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGACCTGGTGAAAAAGTGAA	0.458																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(2026-2028)TCA>TTA		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						213.0	190.0	198.0					11																	100933363		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933363G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2027C>T	11.37:g.100933363G>A	ENSP00000325120:p.Ser676Leu					PGR_uc001pgg.2_Missense_Mutation_p.S57L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.S676L	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2770	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	676					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2027C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683743	0.68157	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	T;T	0.39406	1.08;1.08	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (1);	0.444177	0.24405	N	0.038818	T	0.64929	0.2643	M	0.77616	2.38	0.80722	D	1	D;P	0.58620	0.983;0.944	P;P	0.61477	0.889;0.585	T	0.64774	-0.6328	10	0.44086	T	0.13	.	19.3866	0.94557	0.0:0.0:1.0:0.0	.	676;57	P06401;A7LQ08	PRGR_HUMAN;.	L	676;82	ENSP00000325120:S676L;ENSP00000436561:S82L	ENSP00000325120:S676L	S	-	2	0	PGR	100438573	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	7.457000	0.80775	2.559000	0.86315	0.655000	0.94253	TCA		PASS	0.458	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			31	67	31	67	---	---	---	---
MMP8	4317	broad.mit.edu	37	11	102593196	102593196	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:102593196C>T	ENST00000236826.3	-	2	409	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	104					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.G104E(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CTTGGGGTTTCCTGGGGTTAA	0.473																																						uc001phe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(310-312)GGA>GAA		matrix metalloproteinase 8 preproprotein							115.0	104.0	108.0					11																	102593196		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102593196C>T	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.311G>A	11.37:g.102593196C>T	ENSP00000236826:p.Gly104Glu					MMP8_uc010rut.1_Missense_Mutation_p.G39E|MMP8_uc010ruu.1_Missense_Mutation_p.G81E	p.G104E	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	2	410	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	104					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.311G>A	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442634	0.83993	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.22945	1.93	5.73	5.73	0.89815	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.53938	D	0.000057	T	0.40498	0.1119	M	0.80746	2.51	0.49582	D	0.999806	B;B;B	0.30741	0.293;0.18;0.217	B;B;B	0.34824	0.19;0.111;0.076	T	0.34179	-0.9839	10	0.59425	D	0.04	.	19.8919	0.96932	0.0:1.0:0.0:0.0	.	104;39;104	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	E	104;81;39	ENSP00000236826:G104E	ENSP00000236826:G104E	G	-	2	0	MMP8	102098406	0.001000	0.12720	0.533000	0.28001	0.624000	0.37722	1.046000	0.30354	2.699000	0.92147	0.655000	0.94253	GGA		PASS	0.473	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		21	22	21	22	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102661200	102661200	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:102661200C>T	ENST00000315274.6	-	10	1420	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	451					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T451T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAATTCTCTTCGTTTTAGGAT	0.318																																						uc001phi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1351-1353)ACG>ACA		matrix metalloproteinase 1 isoform 1							120.0	113.0	115.0					11																	102661200		2202	4298	6500	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102661200C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1353G>A	11.37:g.102661200C>T						uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.T385T	p.T451T	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	10	1496	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	451			Hemopexin-like 4.		P08156	Silent	SNP	ENST00000315274.6	37	c.1353G>A	CCDS8322.1																																																																																				PASS	0.318	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		4	13	4	13	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102661252	102661252	+	Splice_Site	SNP	C	C	T	rs181629882		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:102661252C>T	ENST00000315274.6	-	10	1368	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	434					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G434E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	ATAGAAAAATCCTAGAAACAA	0.323																																						uc001phi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1300-1302)GGA>GAA		matrix metalloproteinase 1 isoform 1							68.0	65.0	66.0					11																	102661252		2203	4296	6499	SO:0001630	splice_region_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102661252C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1301-1G>A	11.37:g.102661252C>T						uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G368E	p.G434E	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	10	1444	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	434			Hemopexin-like 4.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1301G>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	17.82	3.483506	0.63962	.	.	ENSG00000196611	ENST00000315274	T	0.03553	3.89	6.17	1.59	0.23543	Hemopexin/matrixin (2);	0.563488	0.17181	N	0.183896	T	0.08582	0.0213	M	0.86953	2.85	0.47778	D	0.999513	B	0.28378	0.209	B	0.35510	0.204	T	0.02104	-1.1213	10	0.62326	D	0.03	.	6.1893	0.20516	0.128:0.6335:0.0:0.2385	.	434	P03956	MMP1_HUMAN	E	434	ENSP00000322788:G434E	ENSP00000322788:G434E	G	-	2	0	MMP1	102166462	0.310000	0.24527	0.911000	0.35937	0.983000	0.72400	0.565000	0.23578	0.659000	0.30945	0.655000	0.94253	GGA		PASS	0.323	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	Missense_Mutation	8	11	8	11	---	---	---	---
MMP3	4314	broad.mit.edu	37	11	102713525	102713525	+	Silent	SNP	C	C	A	rs149147183	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:102713525C>A	ENST00000299855.5	-	2	484	c.228G>T	c.(226-228)acG>acT	p.T76T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	76					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T76T(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	CCAGCTTCCCCGTCACCTCCA	0.488																																						uc001phj.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(226-228)ACG>ACT		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						66.0	58.0	61.0					11																	102713525		2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102713525C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.228G>T	11.37:g.102713525C>A							p.T76T	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	2	293	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	76					B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.228G>T	CCDS8323.1																																																																																				PASS	0.488	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		3	21	3	21	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103107179	103107179	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:103107179C>T	ENST00000375735.2	+	63	9874	c.9730C>T	c.(9730-9732)Ctt>Ttt	p.L3244F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3244F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3244	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L677F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAGGAGATTTCTTTGTACTGA	0.333																																						uc001pho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(9730-9732)CTT>TTT		dynein, cytoplasmic 2, heavy chain 1							89.0	85.0	86.0					11																	103107179		1811	4066	5877	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103107179C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9730C>T	11.37:g.103107179C>T	ENSP00000364887:p.Leu3244Phe					DYNC2H1_uc001phn.1_Missense_Mutation_p.L3244F|DYNC2H1_uc009yxe.1_Intron	p.L3244F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	63	9874	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3244			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.9730C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607282	0.66558	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.68903	-0.36;0.18	5.69	5.69	0.88448	.	0.221762	0.38492	N	0.001669	D	0.82490	0.5048	M	0.93241	3.395	0.80722	D	1	B;B	0.29481	0.245;0.206	B;B	0.41646	0.362;0.194	D	0.83595	0.0125	10	0.72032	D	0.01	.	19.8666	0.96804	0.0:1.0:0.0:0.0	.	3244;3244	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	3244	ENSP00000364887:L3244F;ENSP00000381167:L3244F	ENSP00000364887:L3244F	L	+	1	0	DYNC2H1	102612389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.729000	0.54999	2.684000	0.91462	0.644000	0.83932	CTT		PASS	0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		11	36	11	36	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908634	103908634	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:103908634C>T	ENST00000302259.3	+	1	1327	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	362							aspartic-type endopeptidase activity (GO:0004190)	p.P362S(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTATTTTCTTCCTGAGGGAGA	0.463																																						uc001phr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(1084-1086)CCT>TCT		DDI1, DNA-damage inducible 1, homolog 1							73.0	73.0	73.0					11																	103908634		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908634C>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1084C>T	11.37:g.103908634C>T	ENSP00000302805:p.Pro362Ser					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.P362S	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1327	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	362					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.1084C>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232941	0.09969	.	.	ENSG00000170967	ENST00000302259	T	0.21361	2.01	4.97	4.06	0.47325	.	0.064020	0.64402	D	0.000005	T	0.14960	0.0361	L	0.55990	1.75	0.49915	D	0.99983	P	0.41524	0.753	B	0.31751	0.135	T	0.05750	-1.0866	10	0.08837	T	0.75	-15.6984	11.1892	0.48675	0.0:0.9111:0.0:0.0889	.	362	Q8WTU0	DDI1_HUMAN	S	362	ENSP00000302805:P362S	ENSP00000302805:P362S	P	+	1	0	DDI1	103413844	1.000000	0.71417	0.584000	0.28653	0.028000	0.11728	4.244000	0.58728	1.472000	0.48140	0.655000	0.94253	CCT		PASS	0.463	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		20	18	20	18	---	---	---	---
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:104820346G>A	ENST00000444739.2	-	5	1615	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Silent_p.F179F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	235					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.F235F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483																																						uc001pid.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(703-705)TTC>TTT		caspase 4 isoform alpha precursor							280.0	231.0	248.0					11																	104820346		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104820346G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.705C>T	11.37:g.104820346G>A						CASP4_uc001pib.1_Silent_p.F179F|CASP4_uc009yxg.1_Silent_p.F144F|CASP4_uc010rux.1_Silent_p.F235F	p.F235F	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	5	778	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	235					A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.705C>T	CCDS8327.1																																																																																				PASS	0.483	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		22	68	22	68	---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107501162	107501162	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:107501162C>T	ENST00000265840.7	+	3	302	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	ELMOD1_ENST00000531234.1_Silent_p.L7L|ELMOD1_ENST00000443271.2_Silent_p.L13L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	13					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.L13L(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCAGGTATGCCTGTATTTTTA	0.413																																						uc010rvs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)CTG>TTG		ELMO/CED-12 domain containing 1 isoform 1							68.0	59.0	62.0					11																	107501162		1855	4093	5948	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501162C>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.37C>T	11.37:g.107501162C>T						ELMOD1_uc001pjm.2_Silent_p.L13L|ELMOD1_uc010rvt.1_Silent_p.L7L	p.L13L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	441	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	13					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.37C>T	CCDS44723.1																																																																																				PASS	0.413	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		6	12	6	12	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108385421	108385421	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:108385421G>A	ENST00000265843.4	-	6	923	c.813C>T	c.(811-813)atC>atT	p.I271I	EXPH5_ENST00000428840.1_Silent_p.I195I|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.I264I|EXPH5_ENST00000443411.1_Silent_p.I83I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	271					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.I271I(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGATGTCATAGATAGACATAT	0.388																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(811-813)ATC>ATT		exophilin 5 isoform a							130.0	122.0	125.0					11																	108385421		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385421G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.813C>T	11.37:g.108385421G>A						EXPH5_uc010rvy.1_Silent_p.I83I|EXPH5_uc010rvz.1_Silent_p.I115I|EXPH5_uc010rwa.1_Silent_p.I195I	p.I271I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	924	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	271					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.813C>T	CCDS8341.1																																																																																				PASS	0.388	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		20	33	20	33	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110450853	110450853	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:110450853G>A	ENST00000260283.4	-	16	3101	c.2817C>T	c.(2815-2817)tcC>tcT	p.S939S	ARHGAP20_ENST00000533353.1_Silent_p.S913S|ARHGAP20_ENST00000357139.3_Silent_p.S913S|ARHGAP20_ENST00000524756.1_Silent_p.S916S|ARHGAP20_ENST00000528829.1_Silent_p.S903S|ARHGAP20_ENST00000529591.1_Silent_p.S482S|ARHGAP20_ENST00000527598.1_Silent_p.S903S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	939	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S939S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCCTGGGGAGGATAAGCTGG	0.488																																						uc001pkz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(2)	5						c.(2815-2817)TCC>TCT		Rho GTPase activating protein 20							119.0	116.0	117.0					11																	110450853		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450853G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2817C>T	11.37:g.110450853G>A						ARHGAP20_uc001pky.1_Silent_p.S916S|ARHGAP20_uc009yyb.1_Silent_p.S903S|ARHGAP20_uc001pla.1_Silent_p.S903S|ARHGAP20_uc001plb.2_Silent_p.S482S	p.S939S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3102	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	939			Ser-rich.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.2817C>T	CCDS31673.1																																																																																				PASS	0.488	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		22	34	22	34	---	---	---	---
C11orf53	341032	broad.mit.edu	37	11	111156674	111156674	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:111156674C>T	ENST00000280325.4	+	4	753	c.606C>T	c.(604-606)tcC>tcT	p.S202S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	202								p.S202S(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGCCACTCTCCCCAGATGAGG	0.582																																						uc001plc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)TCC>TCT		hypothetical protein LOC341032							86.0	86.0	86.0					11																	111156674		2201	4297	6498	SO:0001819	synonymous_variant	341032							g.chr11:111156674C>T	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.606C>T	11.37:g.111156674C>T							p.S202S	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	753	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	202						Silent	SNP	ENST00000280325.4	37	c.606C>T	CCDS31674.1																																																																																				PASS	0.582	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		28	44	28	44	---	---	---	---
FDXACB1	91893	broad.mit.edu	37	11	111746473	111746473	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:111746473A>T	ENST00000260257.4	-	5	1095	c.1048T>A	c.(1048-1050)Tct>Act	p.S350T	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S201T	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	350					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.S350T(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ACTAGGAGAGAAGGTCTAAGG	0.468																																						uc001pmc.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1048-1050)TCT>ACT		ferredoxin-fold anticodon binding domain							141.0	134.0	136.0					11																	111746473		1956	4159	6115	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746473A>T		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1048T>A	11.37:g.111746473A>T	ENSP00000260257:p.Ser350Thr					ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.S201T	p.S350T	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			5	1345	-			350					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1048T>A	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694155	0.68386	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.38240	1.15;1.15;1.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52946	-0.8507	10	0.12430	T	0.62	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	350	Q9BRP7	FDXA1_HUMAN	T	350;201;261	ENSP00000260257:S350T;ENSP00000441304:S201T;ENSP00000435572:S261T	ENSP00000260257:S350T	S	-	1	0	FDXACB1	111251683	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	6.527000	0.73803	2.371000	0.80710	0.533000	0.62120	TCT		PASS	0.468	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		19	85	19	85	---	---	---	---
HTR3B	9177	broad.mit.edu	37	11	113813828	113813828	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:113813828A>G	ENST00000260191.2	+	7	1078	c.821A>G	c.(820-822)aAg>aGg	p.K274R	HTR3B_ENST00000537778.1_Missense_Mutation_p.K263R	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	274					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.K274R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	ATTGTGTTCAAGACCAGTGTG	0.567																																						uc001pok.2																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)AAG>AGG		5-hydroxytryptamine (serotonin) receptor 3B							116.0	89.0	98.0					11																	113813828		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113813828A>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.821A>G	11.37:g.113813828A>G	ENSP00000260191:p.Lys274Arg					HTR3B_uc001pol.2_Missense_Mutation_p.K263R	p.K274R	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	7	888	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	274			Helical; Name=2; (Potential).		B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.821A>G	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947346	0.92593	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	D;D	0.85484	-1.99;-1.99	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93161	0.7822	M	0.89414	3.03	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93330	0.6700	10	0.41790	T	0.15	-22.2512	15.4453	0.75225	1.0:0.0:0.0:0.0	.	263;274	O95264-2;O95264	.;5HT3B_HUMAN	R	274;263	ENSP00000260191:K274R;ENSP00000443118:K263R	ENSP00000260191:K274R	K	+	2	0	HTR3B	113319038	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.227000	0.95236	2.062000	0.61559	0.528000	0.53228	AAG		PASS	0.567	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		10	13	10	13	---	---	---	---
BUD13	84811	broad.mit.edu	37	11	116619214	116619214	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:116619214C>T	ENST00000260210.4	-	10	1867	c.1844G>A	c.(1843-1845)aGt>aAt	p.S615N	BUD13_ENST00000375445.3_Missense_Mutation_p.S481N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	615					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.S615N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCCTCAACACTCCATTTGTA	0.493																																						uc001ppn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(1843-1845)AGT>AAT		BUD13 homolog isoform 1							167.0	133.0	145.0					11																	116619214		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116619214C>T	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1844G>A	11.37:g.116619214C>T	ENSP00000260210:p.Ser615Asn					BUD13_uc001ppo.2_Missense_Mutation_p.S481N	p.S615N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	10	1878	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	615					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1844G>A	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082277	0.94050	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.23147	2.0;1.92	6.03	5.12	0.69794	.	0.036347	0.85682	N	0.000000	T	0.50939	0.1645	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55655	-0.8107	10	0.87932	D	0	-10.5357	15.0618	0.71961	0.0:0.9326:0.0:0.0674	.	481;615	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	N	481;615	ENSP00000364594:S481N;ENSP00000260210:S615N	ENSP00000260210:S615N	S	-	2	0	BUD13	116124424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.410000	0.80065	1.556000	0.49512	0.655000	0.94253	AGT		PASS	0.493	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		6	31	6	31	---	---	---	---
ZPR1	8882	broad.mit.edu	37	11	116655826	116655826	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:116655826G>A	ENST00000227322.3	-	7	801	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		248					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)	p.L248F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATTTCTGAGATCTTCCTCT	0.498																																						uc001ppp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(742-744)CTC>TTC		zinc finger protein 259							249.0	226.0	234.0					11																	116655826		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116655826G>A																												ENST00000227322.3:c.742C>T	11.37:g.116655826G>A	ENSP00000227322:p.Leu248Phe					ZNF259_uc009yzd.2_Missense_Mutation_p.L248F|ZNF259_uc001ppq.2_Intron	p.L248F	NM_003904	NP_003895	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	7	775	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	248					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.742C>T	CCDS8375.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064709	0.36470	.	.	ENSG00000109917	ENST00000227322	T	0.47177	0.85	4.94	4.01	0.46588	.	0.112316	0.64402	D	0.000006	T	0.49201	0.1543	M	0.77103	2.36	0.58432	D	0.999998	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.51718	-0.8670	10	0.48119	T	0.1	-9.7046	12.2433	0.54555	0.0:0.0:0.8292:0.1708	.	197;248	B4DVT8;O75312	.;ZPR1_HUMAN	F	248	ENSP00000227322:L248F	ENSP00000227322:L248F	L	-	1	0	ZNF259	116161036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.723000	0.47277	1.420000	0.47138	0.655000	0.94253	CTC		PASS	0.498	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			35	53	35	53	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116729286	116729286	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:116729286G>A	ENST00000292055.4	-	20	2612	c.2577C>T	c.(2575-2577)acC>acT	p.T859T	SIK3_ENST00000434315.2_Intron|SIK3_ENST00000488337.1_Intron|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000375300.1_Silent_p.T917T|SIK3_ENST00000542607.1_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	859	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T965T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGGGCTTGGGTTGGAGAGA	0.597																																						uc001ppy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2575-2577)ACC>ACT		serine/threonine-protein kinase QSK							93.0	98.0	96.0					11																	116729286		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729286G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2577C>T	11.37:g.116729286G>A						SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Silent_p.T162T	p.T859T	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	2613	-			859			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.2577C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	8.048	0.765374	0.15914	.	.	ENSG00000160584	ENST00000445177	.	.	.	5.58	2.65	0.31530	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	.	6.2319	0.20740	0.2222:0.134:0.6438:0.0	.	.	.	.	S	959	.	.	P	-	1	0	SIK3	116234496	0.994000	0.37717	0.978000	0.43139	0.994000	0.84299	0.623000	0.24447	0.279000	0.22186	0.655000	0.94253	CCA		PASS	0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		17	46	17	46	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117253651	117253651	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:117253651C>T	ENST00000278935.3	+	14	1864	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	573	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.P573S(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCCAGTCTCTCCAGAGGTGTA	0.632																																						uc001prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1717-1719)CCA>TCA		centrosomal protein 164kDa							52.0	39.0	44.0					11																	117253651		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117253651C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1717C>T	11.37:g.117253651C>T	ENSP00000278935:p.Pro573Ser					CEP164_uc001prb.2_Missense_Mutation_p.P576S|CEP164_uc010rxk.1_Missense_Mutation_p.P547S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	p.P573S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	14	1864	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	573			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1717C>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166756	0.57476	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.58506	0.33	4.99	4.06	0.47325	.	0.426594	0.20306	N	0.094925	T	0.57770	0.2076	M	0.65975	2.015	0.26245	N	0.978819	P;P;P	0.47302	0.829;0.893;0.893	B;P;P	0.47981	0.36;0.563;0.563	T	0.50775	-0.8788	10	0.09843	T	0.71	-1.2459	11.4371	0.50074	0.0:0.8:0.2:0.0	.	547;573;576	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	S	573;547	ENSP00000278935:P573S	ENSP00000278935:P573S	P	+	1	0	CEP164	116758861	0.138000	0.22547	0.992000	0.48379	0.972000	0.66771	0.506000	0.22658	1.261000	0.44149	0.655000	0.94253	CCA		PASS	0.632	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		6	6	6	6	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117280365	117280365	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:117280365G>A	ENST00000278935.3	+	30	3927	c.3780G>A	c.(3778-3780)aaG>aaA	p.K1260K	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1260					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K1260K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCTCCCGCAAGATCCACGGGC	0.617																																						uc001prc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3778-3780)AAG>AAA		centrosomal protein 164kDa							98.0	107.0	104.0					11																	117280365		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280365G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3780G>A	11.37:g.117280365G>A						CEP164_uc001prb.2_Silent_p.K1255K|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.K685K	p.K1260K	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	3927	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1260					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.3780G>A	CCDS31683.1																																																																																				PASS	0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		30	41	30	41	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117306409	117306409	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:117306409G>A	ENST00000321322.6	-	27	5008	c.5007C>T	c.(5005-5007)ctC>ctT	p.L1669L	DSCAML1_ENST00000527706.1_Silent_p.L1399L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1609					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.L1669L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTACGATGAAGAGCAGTGCCA	0.582																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5005-5007)CTC>CTT		Down syndrome cell adhesion molecule like 1							127.0	100.0	109.0					11																	117306409		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117306409G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5007C>T	11.37:g.117306409G>A							p.L1669L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	27	5009	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1609			Helical; (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5007C>T	CCDS8384.1																																																																																				PASS	0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		15	18	15	18	---	---	---	---
UBE4A	9354	broad.mit.edu	37	11	118235859	118235859	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:118235859C>T	ENST00000431736.2	+	2	136	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	UBE4A_ENST00000252108.3_Silent_p.L22L					ubiquitination factor E4A									p.L22L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTTGGCTCCCTGGCTGATGC	0.453																																						uc001psw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(64-66)CTG>TTG		ubiquitination factor E4A							109.0	109.0	109.0					11																	118235859		2200	4296	6496	SO:0001819	synonymous_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118235859C>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.64C>T	11.37:g.118235859C>T						UBE4A_uc001psv.2_Silent_p.L22L	p.L22L	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	193	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	22						Silent	SNP	ENST00000431736.2	37	c.64C>T	CCDS8396.1																																																																																				PASS	0.453	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		12	30	12	30	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118376855	118376855	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:118376855G>A	ENST00000389506.5	+	27	10239	c.10239G>A	c.(10237-10239)caG>caA	p.Q3413Q	KMT2A_ENST00000534358.1_Silent_p.Q3416Q|KMT2A_ENST00000354520.4_Silent_p.Q3375Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3413					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.Q3416Q(1)|p.Q3413Q(1)									GGACATCACAGACCCCCTCTA	0.537																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(10237-10239)CAG>CAA		myeloid/lymphoid or mixed-lineage leukemia							91.0	93.0	92.0					11																	118376855		2200	4295	6495	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118376855G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10239G>A	11.37:g.118376855G>A						MLL_uc001ptb.2_Silent_p.Q3416Q	p.Q3413Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	10262	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3413					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.10239G>A	CCDS31686.1																																																																																				PASS	0.537	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		20	68	20	68	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118769513	118769513	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:118769513G>C	ENST00000334801.3	-	8	5075	c.4111C>G	c.(4111-4113)Ccc>Gcc	p.P1371A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1371	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.P1371A(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCGAGAGGGAGTCTGCTCC	0.627																																						uc001pug.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(4111-4113)CCC>GCC		B-cell CLL/lymphoma 9-like							33.0	34.0	33.0					11																	118769513		2200	4294	6494	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769513G>C	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.4111C>G	11.37:g.118769513G>C	ENSP00000335320:p.Pro1371Ala					BCL9L_uc009zal.2_Missense_Mutation_p.P1366A	p.P1371A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	5076	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1371			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.4111C>G	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357790	0.41801	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000431085	T	0.62498	0.02	3.97	2.03	0.26663	.	0.000000	0.41823	U	0.000818	T	0.54615	0.1869	L	0.58101	1.795	0.35897	D	0.830112	B;P	0.48764	0.012;0.915	B;B	0.44108	0.008;0.441	T	0.62723	-0.6794	10	0.72032	D	0.01	-6.098	4.8787	0.13668	0.1831:0.0:0.6476:0.1693	.	1366;1371	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	A	1371;1334;617;1326	ENSP00000335320:P1371A	ENSP00000335320:P1371A	P	-	1	0	BCL9L	118274723	1.000000	0.71417	0.994000	0.49952	0.552000	0.35366	3.144000	0.50616	0.791000	0.33826	0.298000	0.19748	CCC		PASS	0.627	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	18	7	18	---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118923096	118923096	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:118923096G>A	ENST00000404233.3	-	10	1157	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	HYOU1_ENST00000525859.1_Missense_Mutation_p.R345C|HYOU1_ENST00000543287.1_Missense_Mutation_p.R258C|HYOU1_ENST00000529972.1_Missense_Mutation_p.R345C	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	345					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R345C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AATTCCACACGAGTCACTTTT	0.557																																						uc001puu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)CGT>TGT		hypoxia up-regulated 1 precursor							149.0	149.0	149.0					11																	118923096		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118923096G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1033C>T	11.37:g.118923096G>A	ENSP00000384144:p.Arg345Cys					HYOU1_uc001put.2_Missense_Mutation_p.R310C|HYOU1_uc010ryu.1_Missense_Mutation_p.R365C|HYOU1_uc010ryv.1_Missense_Mutation_p.R234C|HYOU1_uc001pux.3_Missense_Mutation_p.R345C|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.R345C	p.R345C	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	10	1226	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	345					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.1033C>T	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866261	0.71949	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.02395	4.31;4.31;4.31;4.31;4.31	5.22	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.19321	-1.0309	10	0.87932	D	0	-0.5481	13.7319	0.62792	0.0:0.0:0.7215:0.2785	.	336;389;345;345	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	C	345;336;345;345;194;345;388;258;345	ENSP00000384144:R345C;ENSP00000437313:R345C;ENSP00000433397:R345C;ENSP00000442727:R258C;ENSP00000431874:R345C	ENSP00000278752:R336C	R	-	1	0	HYOU1	118428306	0.998000	0.40836	0.910000	0.35882	0.957000	0.61999	2.256000	0.43231	1.415000	0.47037	0.650000	0.86243	CGT		PASS	0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		41	56	41	56	---	---	---	---
VPS11	55823	broad.mit.edu	37	11	118951947	118951947	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:118951947C>T	ENST00000300793.6	+	16	2623	c.2581C>T	c.(2581-2583)Cct>Tct	p.P861S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	862					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P861S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CACCTGCCTCCCTGAAAACCG	0.542																																						uc010ryx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2584-2586)CCT>TCT		vacuolar protein sorting 11							125.0	128.0	127.0					11																	118951947		1999	4169	6168	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118951947C>T	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2581C>T	11.37:g.118951947C>T	ENSP00000475301:p.Pro861Ser					VPS11_uc010ryy.1_Missense_Mutation_p.P708S	p.P862S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	16	2626	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	862					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2584C>T																																																																																					PASS	0.542	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		25	55	25	55	---	---	---	---
HINFP	25988	broad.mit.edu	37	11	119003908	119003908	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:119003908C>T	ENST00000350777.2	+	9	1181	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	HINFP_ENST00000527410.1_Missense_Mutation_p.P373L	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	373	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.P373L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCAAGTGGCCCTCAGGGCAT	0.463																																						uc001pvp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1117-1119)CCC>CTC		MBD2 (methyl-CpG-binding protein)-interacting							181.0	162.0	169.0					11																	119003908		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003908C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1118C>T	11.37:g.119003908C>T	ENSP00000318085:p.Pro373Leu					HINFP_uc001pvq.2_Missense_Mutation_p.P373L|HINFP_uc001pvr.2_Missense_Mutation_p.P126L	p.P373L	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			10	1307	+			373			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1118C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776379	0.90195	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.10668	2.85;2.95	5.09	5.09	0.68999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02698	-1.1122	10	0.72032	D	0.01	-23.8328	18.6865	0.91567	0.0:1.0:0.0:0.0	.	373	Q9BQA5	HINFP_HUMAN	L	373	ENSP00000318085:P373L;ENSP00000436815:P373L	ENSP00000318085:P373L	P	+	2	0	HINFP	118509118	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.233000	0.78125	2.662000	0.90505	0.655000	0.94253	CCC		PASS	0.463	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		24	59	24	59	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119031280	119031280	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:119031280C>T	ENST00000449422.2	+	14	1817	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	ABCG4_ENST00000531739.1_Silent_p.I543I|ABCG4_ENST00000307417.3_Silent_p.I543I	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	543	ABC transmembrane type-2.				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.I543I(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)		TTACCGCCATCCCTGTCCTCT	0.567																																						uc001pvs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1627-1629)ATC>ATT		ATP-binding cassette, subfamily G, member 4							242.0	227.0	232.0					11																	119031280		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031280C>T	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.1629C>T	11.37:g.119031280C>T						ABCG4_uc009zar.2_Silent_p.I543I	p.I543I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	14	1965	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	543			ABC transmembrane type-2.|Helical; Name=5; (Potential).		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1629C>T	CCDS8415.1																																																																																				PASS	0.567	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		56	88	56	88	---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119063871	119063871	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:119063871C>T	ENST00000503566.2	-	4	338	c.339G>A	c.(337-339)cgG>cgA	p.R113R	CCDC153_ENST00000415318.1_Silent_p.R113R			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	113								p.R113R(1)|p.R27R(1)		lung(3)|stomach(1)	4						CTAGCTGCCCCCGAAGGCCTT	0.592																																						uc010rze.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(337-339)CGG>CGA		coiled-coil domain containing 153							87.0	86.0	86.0					11																	119063871		2199	4295	6494	SO:0001819	synonymous_variant	283152							g.chr11:119063871C>T		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.339G>A	11.37:g.119063871C>T							p.R113R	NM_001145018	NP_001138490	Q494R4	CC153_HUMAN			5	427	-			113			Potential.			Silent	SNP	ENST00000503566.2	37	c.339G>A	CCDS44753.1																																																																																				PASS	0.592	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		8	29	8	29	---	---	---	---
CBL	867	broad.mit.edu	37	11	119155697	119155697	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:119155697C>T	ENST00000264033.4	+	10	1826	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	484	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P484S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCCGCCTTCTCCATTCTCCAT	0.512			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1450-1452)CCA>TCA		Cas-Br-M (murine) ecotropic retroviral							89.0	82.0	84.0					11																	119155697		2199	4295	6494	SO:0001583	missense	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119155697C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1450C>T	11.37:g.119155697C>T	ENSP00000264033:p.Pro484Ser		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1494		p.P484S	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	10	1588	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	484			Pro-rich.		A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	c.1450C>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645473	0.67358	.	.	ENSG00000110395	ENST00000264033	T	0.78816	-1.21	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87370	0.6160	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85075	0.0942	10	0.33940	T	0.23	-38.4642	18.8226	0.92103	0.0:1.0:0.0:0.0	.	484	P22681	CBL_HUMAN	S	484	ENSP00000264033:P484S	ENSP00000264033:P484S	P	+	1	0	CBL	118660907	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.021000	0.76425	2.780000	0.95670	0.585000	0.79938	CCA		PASS	0.512	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		20	34	20	34	---	---	---	---
TRIM29	23650	broad.mit.edu	37	11	119996472	119996473	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:119996472_119996473GC>AA	ENST00000341846.5	-	4	1680_1681	c.1259_1260GC>TT	c.(1258-1260)tGC>tTT	p.C420F	TRIM29_ENST00000529044.1_Missense_Mutation_p.C159F|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.C153F|TRIM29_ENST00000524816.3_5'Flank	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	420					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C420F(2)|p.C420C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGTGGCGCATGCATACATTGAG	0.594																																						uc001pwz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1258-1260)TGC>TGT|c.(1258-1260)TGC>TTC		tripartite motif protein TRIM29																																				SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996472G>A|g.chr11:119996473C>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1259_1260delinsAA	11.37:g.119996472_119996473delinsAA	ENSP00000343129:p.Cys420Phe					TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Silent_p.C159C|TRIM29_uc010rzj.1_Silent_p.C153C|TRIM29_uc001pxa.2_RNA|TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.C159F|TRIM29_uc010rzj.1_Missense_Mutation_p.C153F|TRIM29_uc001pxa.2_RNA	p.C420C|p.C420F	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1384|1383	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	420					Q96AA9|Q9BZY7	Silent|Missense_Mutation	SNP	ENST00000341846.5	37	c.1260C>T|c.1259G>T	CCDS8428.1																																																																																				PASS	0.594	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		8	31|30	8	30	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120823587	120823587	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:120823587C>T	ENST00000527524.2	+	15	1901	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	GRIK4_ENST00000438375.2_Silent_p.S538S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	538					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S538S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCTATTTCTCCTTCCTGGACC	0.547											OREG0021429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pxn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1612-1614)TCC>TCT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						146.0	133.0	138.0					11																	120823587		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120823587C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1614C>T	11.37:g.120823587C>T			OREG0021429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	GRIK4_uc009zav.1_Silent_p.S538S|GRIK4_uc009zaw.1_Silent_p.S538S|GRIK4_uc009zax.1_Silent_p.S538S	p.S538S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	15	1901	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	538			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1614C>T	CCDS8433.1																																																																																				PASS	0.547	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		10	47	10	47	---	---	---	---
TBCEL	219899	broad.mit.edu	37	11	120916532	120916532	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:120916532G>A	ENST00000529397.1	+	2	233	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TBCEL_ENST00000422003.2_Splice_Site_p.D45N	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D45N(1)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCCTATGAAAGGTAAGAAAGA	0.393																																						uc009zay.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)GAT>AAT		tubulin folding cofactor E-like							34.0	40.0	38.0					11																	120916532		2199	4296	6495	SO:0001630	splice_region_variant	219899					cytoplasm|cytoskeleton		g.chr11:120916532G>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.133+1G>A	11.37:g.120916532G>A						TBCEL_uc001pxo.2_Missense_Mutation_p.D45N|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA	p.D45N	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	2	211	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	45					Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.133G>A	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553506	0.96501	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T	0.46819	1.49;1.49;0.86	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	L	0.40543	1.245	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.61173	-0.7116	10	0.59425	D	0.04	-3.2155	19.6408	0.95757	0.0:0.0:1.0:0.0	.	45	Q5QJ74	TBCEL_HUMAN	N	45	ENSP00000437184:D45N;ENSP00000403925:D45N;ENSP00000432783:D45N	ENSP00000284259:D45N	D	+	1	0	TBCEL	120421742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.385000	0.97223	2.643000	0.89663	0.650000	0.86243	GAT		PASS	0.393	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715	Missense_Mutation	10	13	10	13	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120989408	120989408	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:120989408G>A	ENST00000392793.1	+	7	1455	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	TECTA_ENST00000264037.2_Missense_Mutation_p.G395E			O75443	TECTA_HUMAN	tectorin alpha	395	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.G395E(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCCCCAAAGGAAGCTATGGA	0.522																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(1183-1185)GGA>GAA		tectorin alpha precursor							63.0	66.0	65.0					11																	120989408		2202	4299	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989408G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1184G>A	11.37:g.120989408G>A	ENSP00000376543:p.Gly395Glu						p.G395E	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	6	1184	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	395			VWFD 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1184G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664859	0.67700	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.72	5.72	0.89469	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	L	0.58428	1.81	0.47214	D	0.999356	D	0.76494	0.999	D	0.64595	0.927	T	0.71866	-0.4463	10	0.72032	D	0.01	.	13.1343	0.59402	0.073:0.0:0.927:0.0	.	395	O75443	TECTA_HUMAN	E	395	ENSP00000376543:G395E;ENSP00000264037:G395E	ENSP00000264037:G395E	G	+	2	0	TECTA	120494618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.700000	0.92200	0.563000	0.77884	GGA		PASS	0.522	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		12	46	12	46	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121028816	121028816	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:121028816C>T	ENST00000392793.1	+	14	4843	c.4572C>T	c.(4570-4572)tcC>tcT	p.S1524S	TECTA_ENST00000264037.2_Silent_p.S1524S			O75443	TECTA_HUMAN	tectorin alpha	1524	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S1524S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGACATCTCCTTCCAGCTTA	0.572																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4570-4572)TCC>TCT		tectorin alpha precursor							97.0	77.0	84.0					11																	121028816		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028816C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4572C>T	11.37:g.121028816C>T							p.S1524S	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4572	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1524			VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4572C>T	CCDS8434.1																																																																																				PASS	0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		18	33	18	33	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121032794	121032794	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:121032794C>T	ENST00000392793.1	+	16	5258	c.4987C>T	c.(4987-4989)Ccc>Tcc	p.P1663S	TECTA_ENST00000264037.2_Missense_Mutation_p.P1663S			O75443	TECTA_HUMAN	tectorin alpha	1663	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P1663S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCTCTTGCCCCCAGCTGCAA	0.507																																						uc010rzo.1																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4987-4989)CCC>TCC		tectorin alpha precursor							104.0	98.0	100.0					11																	121032794		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121032794C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4987C>T	11.37:g.121032794C>T	ENSP00000376543:p.Pro1663Ser						p.P1663S	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	4987	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1663			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4987C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886896	0.33348	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.35048	1.33;1.33	5.27	4.35	0.52113	von Willebrand factor, type D domain (1);	0.254697	0.32459	N	0.006065	T	0.16041	0.0386	N	0.03608	-0.345	0.26227	N	0.979077	B	0.02656	0.0	B	0.01281	0.0	T	0.10870	-1.0611	10	0.29301	T	0.29	.	10.1011	0.42507	0.0:0.8475:0.0:0.1525	.	1663	O75443	TECTA_HUMAN	S	1663	ENSP00000376543:P1663S;ENSP00000264037:P1663S	ENSP00000264037:P1663S	P	+	1	0	TECTA	120538004	0.009000	0.17119	0.987000	0.45799	0.943000	0.58893	1.164000	0.31810	2.448000	0.82819	0.650000	0.86243	CCC		PASS	0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		17	61	17	61	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121403216	121403216	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:121403216G>A	ENST00000260197.7	+	12	1769	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	547					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.G547E(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACCACGGCGGAATCATCACG	0.483																																						uc001pxx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1639-1641)GGA>GAA		sortilin-related receptor containing LDLR class							123.0	109.0	114.0					11																	121403216		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121403216G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1640G>A	11.37:g.121403216G>A	ENSP00000260197:p.Gly547Glu						p.G547E	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	12	1720	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	547			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1640G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774496	0.90108	.	.	ENSG00000137642	ENST00000260197	T	0.60672	0.17	5.03	5.03	0.67393	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.81118	0.4756	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85685	0.1303	10	0.87932	D	0	.	17.9701	0.89111	0.0:0.0:1.0:0.0	.	547	Q92673	SORL_HUMAN	E	547	ENSP00000260197:G547E	ENSP00000260197:G547E	G	+	2	0	SORL1	120908426	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	8.020000	0.88740	2.317000	0.78254	0.655000	0.94253	GGA		PASS	0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		17	24	17	24	---	---	---	---
BLID	414899	broad.mit.edu	37	11	121986431	121986431	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:121986431A>G	ENST00000560104.1	-	1	492	c.200T>C	c.(199-201)cTt>cCt	p.L67P		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	67					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.L67P(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		GTACCTTTTAAGAGAAAGCAC	0.463											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pyf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CTT>CCT		BRCC2 protein							164.0	164.0	164.0					11																	121986431		2202	4299	6501	SO:0001583	missense	414899				apoptosis	mitochondrion		g.chr11:121986431A>G	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.200T>C	11.37:g.121986431A>G	ENSP00000453153:p.Leu67Pro		OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1515	LOC399959_uc009zba.2_Intron	p.L67P	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)	1	493	-		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	67					A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	c.200T>C	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	A	7.871	0.728208	0.15507	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.21	0.664	0.17890	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.22208	-1.0223	8	0.87932	D	0	.	7.3596	0.26739	0.5509:0.4491:0.0:0.0	.	67	Q8IZY5	BLID_HUMAN	P	67	.	ENSP00000448995:L67P	L	-	2	0	BLID;AP001924.1	121491641	0.001000	0.12720	0.004000	0.12327	0.040000	0.13550	0.219000	0.17641	0.114000	0.18032	0.482000	0.46254	CTT		PASS	0.463	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786		45	83	45	83	---	---	---	---
GRAMD1B	57476	broad.mit.edu	37	11	123471189	123471189	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123471189C>T	ENST00000529750.1	+	7	881	c.554C>T	c.(553-555)tCg>tTg	p.S185L	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S185L|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S192L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	185						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S185L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCTTCACTTCGTTTGGGGCC	0.408																																						uc001pyx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(553-555)TCG>TTG		GRAM domain containing 1B							87.0	81.0	83.0					11																	123471189		1840	4084	5924	SO:0001583	missense	57476					integral to membrane		g.chr11:123471189C>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.554C>T	11.37:g.123471189C>T	ENSP00000436500:p.Ser185Leu					GRAMD1B_uc001pyw.2_Missense_Mutation_p.S192L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S145L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S145L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S181L	p.S185L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	7	883	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.554C>T	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001746	0.93227	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.44881	1.24;1.26;1.25;1.32;0.91	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;P;P;P	0.65443	0.935;0.903;0.588;0.716	T	0.72388	-0.4309	10	0.87932	D	0	.	19.8907	0.96929	0.0:1.0:0.0:0.0	.	145;192;185;192	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	L	192;192;185;185;145;181	ENSP00000402457:S192L;ENSP00000325628:S185L;ENSP00000436500:S185L;ENSP00000432987:S145L;ENSP00000434214:S181L	ENSP00000325628:S185L	S	+	2	0	GRAMD1B	122976399	1.000000	0.71417	0.734000	0.30879	0.915000	0.54546	7.715000	0.84713	2.696000	0.92011	0.591000	0.81541	TCG		PASS	0.408	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		12	16	12	16	---	---	---	---
TMEM225	338661	broad.mit.edu	37	11	123756054	123756054	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123756054C>T	ENST00000375026.2	-	1	295	c.79G>A	c.(79-81)Gga>Aga	p.G27R		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	27					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.G27R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGGTGATTCCCATCACCATT	0.423																																						uc001pzi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3						c.(79-81)GGA>AGA		transmembrane protein 225							125.0	113.0	117.0					11																	123756054		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123756054C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.79G>A	11.37:g.123756054C>T	ENSP00000364166:p.Gly27Arg						p.G27R	NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN			1	287	-			27			Helical; (Potential).			Missense_Mutation	SNP	ENST00000375026.2	37	c.79G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943872	0.53079	.	.	ENSG00000204300	ENST00000375026	T	0.71698	-0.59	4.87	3.96	0.45880	.	0.000000	0.48286	D	0.000194	T	0.74015	0.3661	L	0.32530	0.975	0.09310	N	0.999992	D	0.89917	1.0	D	0.85130	0.997	T	0.64007	-0.6508	10	0.87932	D	0	-13.3149	9.0944	0.36629	0.0:0.9001:0.0:0.0999	.	27	Q6GV28	TM225_HUMAN	R	27	ENSP00000364166:G27R	ENSP00000364166:G27R	G	-	1	0	TMEM225	123261264	0.199000	0.23386	0.056000	0.19401	0.004000	0.04260	2.934000	0.48956	1.408000	0.46895	0.655000	0.94253	GGA		PASS	0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		20	27	20	27	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810609	123810609	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123810609G>A	ENST00000307033.2	+	1	360	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96R(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)		TTCCTTTGGTGGATGCCTGAC	0.493																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)GGA>AGA		olfactory receptor, family 4, subfamily D,							142.0	118.0	126.0					11																	123810609		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810609G>A	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.286G>A	11.37:g.123810609G>A	ENSP00000305970:p.Gly96Arg						p.G96R	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	286	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	96			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.286G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773221	0.31411	.	.	ENSG00000171014	ENST00000307033	T	0.09817	2.94	5.5	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.425570	0.19382	N	0.115635	T	0.23965	0.0580	M	0.77313	2.365	0.09310	N	1	P	0.35982	0.531	P	0.48901	0.594	T	0.07947	-1.0746	10	0.72032	D	0.01	-2.6351	9.4764	0.38873	0.2489:0.0:0.7511:0.0	.	96	Q8NGN0	OR4D5_HUMAN	R	96	ENSP00000305970:G96R	ENSP00000305970:G96R	G	+	1	0	OR4D5	123315819	0.003000	0.15002	0.651000	0.29564	0.617000	0.37484	1.267000	0.33050	0.214000	0.20742	0.655000	0.94253	GGA		PASS	0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		8	44	8	44	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123814038	123814038	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123814038C>T	ENST00000321252.2	-	1	542	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCATTGGGGCCACAGAAAGGC	0.562																																						uc010sab.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(508-510)GGC>AGC		olfactory receptor, family 6, subfamily T,							75.0	63.0	67.0					11																	123814038		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814038C>T	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.508G>A	11.37:g.123814038C>T	ENSP00000325203:p.Gly170Ser						p.G170S	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	508	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	170			Extracellular (Potential).		Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.508G>A	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290296	0.40494	.	.	ENSG00000181499	ENST00000321252	T	0.38722	1.12	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43322	0.1242	L	0.52206	1.635	0.21897	N	0.999483	P	0.38440	0.631	P	0.44811	0.461	T	0.22836	-1.0205	9	0.21540	T	0.41	-35.9335	12.451	0.55677	0.0:1.0:0.0:0.0	.	170	Q8NGN1	OR6T1_HUMAN	S	170	ENSP00000325203:G170S	ENSP00000325203:G170S	G	-	1	0	OR6T1	123319248	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	0.500000	0.22562	1.751000	0.51876	0.563000	0.77884	GGC		PASS	0.562	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		25	30	25	30	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900675	123900675	+	Missense_Mutation	SNP	G	G	A	rs572459190		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123900675G>A	ENST00000431524.1	+	1	379	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V116I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTCTACAGGGTCATGTCCTG	0.552																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)GTC>ATC		olfactory receptor, family 10, subfamily G,							150.0	142.0	144.0					11																	123900675		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900675G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.346G>A	11.37:g.123900675G>A	ENSP00000389072:p.Val116Ile						p.V116I	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	346	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	116			Helical; Name=3; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.346G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	9.800	1.180247	0.21787	.	.	ENSG00000234560	ENST00000431524	T	0.04862	3.54	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.315803	0.22775	N	0.055798	T	0.07503	0.0189	L	0.54323	1.7	0.27951	N	0.937155	B	0.24651	0.108	B	0.27076	0.076	T	0.10497	-1.0627	10	0.51188	T	0.08	.	7.5763	0.27937	0.1265:0.0:0.8735:0.0	.	116	Q8NGN5	O10G8_HUMAN	I	116	ENSP00000389072:V116I	ENSP00000389072:V116I	V	+	1	0	OR10G8	123405885	0.015000	0.18098	0.914000	0.36105	0.290000	0.27261	0.602000	0.24134	1.684000	0.51022	0.650000	0.86243	GTC		PASS	0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		41	63	41	63	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	123989018	123989018	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:123989018G>A	ENST00000456829.2	+	5	620	c.369G>A	c.(367-369)gcG>gcA	p.A123A	VWA5A_ENST00000361352.5_Silent_p.A123A|VWA5A_ENST00000392748.1_Silent_p.A123A|VWA5A_ENST00000392744.4_Silent_p.A139A|VWA5A_ENST00000449321.1_Silent_p.A123A|VWA5A_ENST00000360334.4_Silent_p.A123A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	123	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.							p.A123A(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGTCGAAGGCGGCAGTCACCC	0.577																																						uc001pzu.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(367-369)GCG>GCA		BCSC-1 isoform 1							108.0	106.0	107.0					11																	123989018		2201	4299	6500	SO:0001819	synonymous_variant	4013							g.chr11:123989018G>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.369G>A	11.37:g.123989018G>A						VWA5A_uc001pzr.2_Silent_p.A123A|VWA5A_uc001pzs.2_Silent_p.A123A|VWA5A_uc010sae.1_Silent_p.A139A|VWA5A_uc001pzt.2_Silent_p.A123A	p.A123A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			5	578	+			123			VIT.		Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	c.369G>A	CCDS8444.1																																																																																				PASS	0.577	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		16	53	16	53	---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310855	124310855	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:124310855G>A	ENST00000328064.2	-	1	199	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	43					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L43L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCAAGCCCAGGTTCCCCACC	0.488																																						uc010sal.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)CTG>TTG		olfactory receptor, family 8, subfamily B,							96.0	97.0	97.0					11																	124310855		2201	4299	6500	SO:0001819	synonymous_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310855G>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.127C>T	11.37:g.124310855G>A							p.L43L	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	127	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	43			Helical; Name=1; (Potential).		A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	c.127C>T	CCDS8446.1																																																																																				PASS	0.488	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		29	40	29	40	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413056	124413056	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:124413056C>T	ENST00000306842.2	-	1	519	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L165L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CACAGAAGGTCAGGTTCATTA	0.507																																						uc010sam.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(493-495)CTG>CTA		olfactory receptor, family 8, subfamily B,							156.0	121.0	133.0					11																	124413056		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413056C>T		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.495G>A	11.37:g.124413056C>T							p.L165L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	495	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	165			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.495G>A	CCDS31711.1																																																																																				PASS	0.507	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			27	48	27	48	---	---	---	---
SIAE	54414	broad.mit.edu	37	11	124508525	124508525	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:124508525C>T	ENST00000263593.3	-	9	1405	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	SIAE_ENST00000545756.1_Silent_p.K376K|RNA5SP352_ENST00000363408.1_RNA			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	411					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.K411K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		AGAGTTCTATCTTCTCAGGCA	0.473																																						uc001qan.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)AAG>AAA		sialate O-acetylesterase precursor							129.0	115.0	120.0					11																	124508525		2201	4299	6500	SO:0001819	synonymous_variant	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124508525C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1233G>A	11.37:g.124508525C>T							p.K411K	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	9	1346	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	411					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Silent	SNP	ENST00000263593.3	37	c.1233G>A	CCDS8449.1																																																																																				PASS	0.473	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		13	16	13	16	---	---	---	---
SIAE	54414	broad.mit.edu	37	11	124517323	124517323	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:124517323C>T	ENST00000263593.3	-	7	1076	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	SIAE_ENST00000545756.1_Missense_Mutation_p.E267K			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	302					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.E302K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGGAAGGTTTCACGCCAGTCT	0.468																																						uc001qan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)GAA>AAA		sialate O-acetylesterase precursor							167.0	140.0	149.0					11																	124517323		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124517323C>T	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.904G>A	11.37:g.124517323C>T	ENSP00000263593:p.Glu302Lys						p.E302K	NM_170601	NP_733746	Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	7	1017	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	302					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.904G>A	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	0.692	-0.794043	0.02862	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.94497	-3.44;-3.44	5.45	3.55	0.40652	Esterase, SGNH hydrolase-type (1);Domain of unknown function DUF303, acetylesterase putative (1);	0.413927	0.25506	N	0.030204	T	0.79885	0.4523	N	0.01405	-0.89	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66085	-0.6011	10	0.02654	T	1	-20.2505	10.8592	0.46817	0.0:0.2682:0.5978:0.134	.	302	Q9HAT2	SIAE_HUMAN	K	302;267	ENSP00000263593:E302K;ENSP00000437877:E267K	ENSP00000263593:E302K	E	-	1	0	SIAE	124022533	0.959000	0.32827	0.707000	0.30419	0.105000	0.19272	1.021000	0.30040	0.770000	0.33336	-0.147000	0.13772	GAA		PASS	0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		18	33	18	33	---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124947395	124947395	+	Silent	SNP	C	C	T	rs369588617		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:124947395C>T	ENST00000403796.2	+	4	586	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SLC37A2_ENST00000407458.1_Silent_p.L95L|SLC37A2_ENST00000298280.5_Silent_p.L95L|SLC37A2_ENST00000308074.4_Silent_p.L95L	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	95					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L95L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ACGCCTTCCTCATCGCCTATG	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22796	0.0		0.0	False		,,,				2504	0.0				Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(283-285)CTC>CTT		solute carrier family 37 (glycerol-3-phosphate		C	,	0,4402		0,0,2201	100.0	92.0	95.0		285,285	-9.0	0.1	11		95	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SLC37A2	NM_001145290.1,NM_198277.2	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	95/502,95/506	124947395	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124947395C>T	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.285C>T	11.37:g.124947395C>T						SLC37A2_uc010sau.1_Silent_p.L95L	p.L95L	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	4	536	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	95			Helical; (Potential).		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	ENST00000403796.2	37	c.285C>T	CCDS44757.1																																																																																				PASS	0.527	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		10	21	10	21	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125280123	125280123	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:125280123C>T	ENST00000298282.9	+	8	891	c.620C>T	c.(619-621)tCc>tTc	p.S207F	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.S143F	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	207					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.S207F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AATTCCATGTCCGGAGTCTCC	0.567																																						uc001qbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(619-621)TCC>TTC		PBX/knotted 1 homeobox 2							127.0	132.0	130.0					11																	125280123		2067	4220	6287	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125280123C>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.620C>T	11.37:g.125280123C>T	ENSP00000298282:p.Ser207Phe					PKNOX2_uc010saz.1_Missense_Mutation_p.S178F|PKNOX2_uc010sba.1_Missense_Mutation_p.S178F|PKNOX2_uc010sbb.1_Missense_Mutation_p.S143F|PKNOX2_uc001qbv.2_5'Flank	p.S207F	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	8	934	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	207					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.620C>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019699	0.75275	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.9	5.62	5.62	0.85841	.	0.224693	0.31734	N	0.007146	T	0.80534	0.4641	N	0.24115	0.695	0.52099	D	0.999948	P;B	0.39003	0.654;0.38	B;B	0.39840	0.311;0.123	T	0.82665	-0.0345	10	0.72032	D	0.01	-6.2737	19.2564	0.93947	0.0:1.0:0.0:0.0	.	143;207	F5GZ15;Q96KN3	.;PKNX2_HUMAN	F	178;178;207;143;195	ENSP00000434732:S178F;ENSP00000433971:S178F;ENSP00000298282:S207F;ENSP00000441470:S143F	ENSP00000298282:S207F	S	+	2	0	PKNOX2	124785333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.036000	0.76524	2.633000	0.89246	0.655000	0.94253	TCC		PASS	0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			28	116	28	116	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125472276	125472276	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:125472276C>T	ENST00000529196.1	+	5	434	c.228C>T	c.(226-228)gcC>gcT	p.A76A	STT3A_ENST00000392708.4_Silent_p.A76A|STT3A_ENST00000531491.1_5'UTR			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	76					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.A76A(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATGACCGAGCCTGGTACCCTT	0.378																																						uc001qcd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)GCC>GCT		integral membrane protein 1							65.0	64.0	65.0					11																	125472276		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472276C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.228C>T	11.37:g.125472276C>T						STT3A_uc009zbm.2_Silent_p.A76A|STT3A_uc001qce.2_Silent_p.A76A|STT3A_uc010sbg.1_5'UTR	p.A76A	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	4	338	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	76			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.228C>T	CCDS8458.1																																																																																				PASS	0.378	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		8	19	8	19	---	---	---	---
CDON	50937	broad.mit.edu	37	11	125880416	125880416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:125880416G>A	ENST00000392693.3	-	8	1499	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	CDON_ENST00000263577.7_Nonsense_Mutation_p.R458*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	458	Ig-like C2-type 5.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R458*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGATTTTCGGGATTTCGAT	0.522																																						uc009zbw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(1372-1374)CGA>TGA		surface glycoprotein, Ig superfamily member							172.0	164.0	167.0					11																	125880416		2201	4299	6500	SO:0001587	stop_gained	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125880416G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1372C>T	11.37:g.125880416G>A	ENSP00000376458:p.Arg458*					CDON_uc001qdc.3_Nonsense_Mutation_p.R458*|CDON_uc001qdd.3_RNA	p.R458*	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	8	1500	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458			Ig-like C2-type 5.|Extracellular (Potential).		O14631	Nonsense_Mutation	SNP	ENST00000392693.3	37	c.1372C>T	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.95|18.95	3.730825|3.730825	0.69074|0.69074	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000263577	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.178868	.|0.27043	.|N	.|0.021216	T|.	0.35624|.	0.0938|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.31779|.	-0.9931|.	3|.	.|0.02654	.|T	.|1	-1.005|-1.005	14.3922|14.3922	0.66986|0.66986	0.0:0.0:0.8515:0.1485|0.0:0.0:0.8515:0.1485	.|.	.|.	.|.	.|.	L|X	433|458	.|.	.|ENSP00000263577:R458X	P|R	-|-	2|1	0|2	CDON|CDON	125385626|125385626	1.000000|1.000000	0.71417|0.71417	0.832000|0.832000	0.32986|0.32986	0.012000|0.012000	0.07955|0.07955	4.836000|4.836000	0.62789|0.62789	2.491000|2.491000	0.84063|0.84063	0.591000|0.591000	0.81541|0.81541	CCG|CGA		PASS	0.522	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		33	46	33	46	---	---	---	---
KIRREL3	84623	broad.mit.edu	37	11	126333112	126333112	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:126333112G>A	ENST00000525144.2	-	6	931	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	KIRREL3_ENST00000529097.2_Missense_Mutation_p.R228C|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R228C	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	228	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R228C(2)|p.R187C(2)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGGTGGCACGACACACGATG	0.622																																						uc001qea.2																			4	Substitution - Missense(4)		lung(3)|large_intestine(1)	ovary(3)	3						c.(682-684)CGT>TGT		kin of IRRE like 3 isoform 1							94.0	100.0	98.0					11																	126333112		2169	4259	6428	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126333112G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.682C>T	11.37:g.126333112G>A	ENSP00000435466:p.Arg228Cys					KIRREL3_uc001qeb.2_Missense_Mutation_p.R228C|KIRREL3_uc001qec.1_Missense_Mutation_p.R228C	p.R228C	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	6	1043	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	228			Ig-like C2-type 2.|Extracellular (Potential).		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.682C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700132	0.48307	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.76709	-1.04;-1.04;-1.04	5.1	4.13	0.48395	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070083	0.56097	D	0.000036	D	0.89403	0.6705	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	P;P;D	0.72338	0.809;0.88;0.977	D	0.91501	0.5219	10	0.87932	D	0	.	13.4361	0.61084	0.0:0.0:0.8427:0.1573	.	228;228;228	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	C	228	ENSP00000435466:R228C;ENSP00000434081:R228C;ENSP00000435094:R228C	ENSP00000435466:R228C	R	-	1	0	KIRREL3	125838322	1.000000	0.71417	0.996000	0.52242	0.205000	0.24178	4.758000	0.62220	2.380000	0.81148	0.448000	0.29417	CGT		PASS	0.622	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		7	25	7	25	---	---	---	---
KCNJ5	3762	broad.mit.edu	37	11	128781486	128781486	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:128781486C>T	ENST00000338350.4	+	3	670	c.318C>T	c.(316-318)ttC>ttT	p.F106F	KCNJ5_ENST00000533599.1_Silent_p.F106F|KCNJ5_ENST00000529694.1_Silent_p.F106F			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	106					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.F106F(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TCTTCGGCTTCATTTGGTGGC	0.527																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(316-318)TTC>TTT		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						135.0	128.0	130.0					11																	128781486		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781486C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.318C>T	11.37:g.128781486C>T						KCNJ5_uc009zck.2_Silent_p.F106F|KCNJ5_uc001qew.2_Silent_p.F106F	p.F106F	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	632	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	106			Helical; Name=M1; (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.318C>T	CCDS8479.1																																																																																				PASS	0.527	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		16	46	16	46	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839068	128839068	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:128839068C>T	ENST00000310343.9	-	22	5997	c.5998G>A	c.(5998-6000)Gac>Aac	p.D2000N	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.D1651N|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.D1651N	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2000	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.D1651N(1)|p.D2000N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACACTGGGGTCCCTCTCCACG	0.537																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(5998-6000)GAC>AAC		Rho GTPase-activating protein isoform 1							140.0	121.0	128.0					11																	128839068		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839068C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5998G>A	11.37:g.128839068C>T	ENSP00000310561:p.Asp2000Asn					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.D959N|ARHGAP32_uc001qez.2_Missense_Mutation_p.D1651N	p.D2000N	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5998	-			2000			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5998G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906520	0.92107	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20069	2.1;2.1;2.1	5.54	5.54	0.83059	.	0.182425	0.46758	D	0.000276	T	0.41743	0.1172	M	0.66939	2.045	0.58432	D	0.999995	D	0.59767	0.986	P	0.55615	0.78	T	0.29610	-1.0006	10	0.87932	D	0	.	19.4864	0.95030	0.0:1.0:0.0:0.0	.	2000	A7KAX9	RHG32_HUMAN	N	2000;1651;1651	ENSP00000310561:D2000N;ENSP00000376425:D1651N;ENSP00000432862:D1651N	ENSP00000310561:D2000N	D	-	1	0	ARHGAP32	128344278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.396000	0.79891	2.590000	0.87494	0.655000	0.94253	GAC		PASS	0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		28	35	28	35	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839539	128839539	+	Missense_Mutation	SNP	C	C	T	rs371147218		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:128839539C>T	ENST00000310343.9	-	22	5526	c.5527G>A	c.(5527-5529)Gga>Aga	p.G1843R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1494R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1494R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1843	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.G1494R(1)|p.G1843R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCATGGCCTCCGTGATGGTGG	0.612																																						uc009zcp.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(5527-5529)GGA>AGA		Rho GTPase-activating protein isoform 1		C	ARG/GLY,ARG/GLY	0,4402		0,0,2201	66.0	60.0	62.0		5527,4480	5.0	0.0	11		62	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ARHGAP32	NM_001142685.1,NM_014715.3	125,125	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1843/2088,1494/1739	128839539	1,12995	2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839539C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5527G>A	11.37:g.128839539C>T	ENSP00000310561:p.Gly1843Arg					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G802R|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1494R	p.G1843R	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5527	-			1843			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5527G>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578600	0.28180	0.0	1.16E-4	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09817	2.96;2.94;2.94	5.95	5.03	0.67393	.	0.195954	0.36555	N	0.002533	T	0.14830	0.0358	M	0.62723	1.935	0.09310	N	1	B	0.27068	0.167	B	0.20767	0.031	T	0.10428	-1.0630	10	0.87932	D	0	.	15.4983	0.75673	0.0:0.7383:0.2617:0.0	.	1843	A7KAX9	RHG32_HUMAN	R	1843;1494;1494	ENSP00000310561:G1843R;ENSP00000376425:G1494R;ENSP00000432862:G1494R	ENSP00000310561:G1843R	G	-	1	0	ARHGAP32	128344749	0.662000	0.27439	0.011000	0.14972	0.078000	0.17371	2.768000	0.47645	1.497000	0.48584	0.655000	0.94253	GGA		PASS	0.612	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		10	18	10	18	---	---	---	---
BARX2	8538	broad.mit.edu	37	11	129321220	129321220	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:129321220C>T	ENST00000281437.4	+	4	859	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	BARX2_ENST00000526127.1_Missense_Mutation_p.P110S|BARX2_ENST00000531946.1_Missense_Mutation_p.P133S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	255					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.P255S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ACGTGATGTCCCCTTAGAGAT	0.567																																						uc001qfc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)CCC>TCC		BarH-like homeobox 2							68.0	67.0	67.0					11																	129321220		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129321220C>T	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.763C>T	11.37:g.129321220C>T	ENSP00000281437:p.Pro255Ser						p.P255S	NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	813	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	255					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.763C>T	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923261	0.52653	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	D;D;D	0.89875	-2.58;-2.17;-2.16	5.51	3.61	0.41365	.	0.369285	0.31221	N	0.008039	T	0.78413	0.4279	N	0.24115	0.695	0.24812	N	0.99263	B	0.10296	0.003	B	0.06405	0.002	T	0.61392	-0.7072	10	0.20046	T	0.44	.	7.9897	0.30233	0.0:0.6078:0.3101:0.0821	.	255	Q9UMQ3	BARX2_HUMAN	S	255;110;133	ENSP00000281437:P255S;ENSP00000451113:P110S;ENSP00000450418:P133S	ENSP00000281437:P255S	P	+	1	0	BARX2	128826430	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	-0.251000	0.08818	0.666000	0.31087	-0.127000	0.14921	CCC		PASS	0.567	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		14	36	14	36	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129812365	129812365	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:129812365A>G	ENST00000360871.3	-	7	1153	c.922T>C	c.(922-924)Tat>Cat	p.Y308H	PRDM10_ENST00000304538.6_Missense_Mutation_p.Y222H|PRDM10_ENST00000358825.5_Missense_Mutation_p.Y308H|PRDM10_ENST00000423662.2_Missense_Mutation_p.Y222H|PRDM10_ENST00000526082.1_Missense_Mutation_p.Y222H|PRDM10_ENST00000528746.1_Missense_Mutation_p.Y282H	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	308	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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.Y308H(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTTGTATAATACACATGGTGG	0.488																																						uc001qfm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(922-924)TAT>CAT		PR domain containing 10 isoform 1							94.0	93.0	93.0					11																	129812365		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812365A>G	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.922T>C	11.37:g.129812365A>G	ENSP00000354118:p.Tyr308His					PRDM10_uc001qfj.2_Missense_Mutation_p.Y222H|PRDM10_uc001qfk.2_Missense_Mutation_p.Y222H|PRDM10_uc001qfl.2_Missense_Mutation_p.Y222H|PRDM10_uc010sbx.1_Missense_Mutation_p.Y222H|PRDM10_uc001qfn.2_Missense_Mutation_p.Y308H|PRDM10_uc009zct.1_Missense_Mutation_p.Y340H	p.Y308H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	7	1154	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	308			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.922T>C	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013685	0.75161	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;2.14	5.39	5.39	0.77823	.	0.066761	0.64402	D	0.000006	T	0.69895	0.3162	M	0.81112	2.525	0.52099	D	0.999949	D;D;D;D;D;D;D	0.76494	0.995;0.999;0.997;0.99;0.997;0.993;0.997	P;D;D;P;D;D;D	0.70487	0.88;0.969;0.944;0.808;0.944;0.919;0.944	T	0.74819	-0.3535	10	0.72032	D	0.01	-26.2402	15.7091	0.77609	1.0:0.0:0.0:0.0	.	222;308;308;308;222;222;222	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	H	308;222;308;222;282;222;25	ENSP00000351686:Y308H;ENSP00000302669:Y222H;ENSP00000354118:Y308H;ENSP00000398431:Y222H;ENSP00000431262:Y282H;ENSP00000432237:Y222H;ENSP00000435940:Y25H	ENSP00000302669:Y222H	Y	-	1	0	PRDM10	129317575	1.000000	0.71417	0.999000	0.59377	0.651000	0.38670	8.910000	0.92685	2.181000	0.69327	0.459000	0.35465	TAT		PASS	0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		13	41	13	41	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133795713	133795713	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:133795713C>A	ENST00000321016.8	-	14	2185	c.1955G>T	c.(1954-1956)cGt>cTt	p.R652L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R652L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	652	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R108L(1)|p.R652L(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)		CTCTGCGACACGGAACTCCAT	0.587																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1954-1956)CGT>CTT		immunoglobulin superfamily, member 9B							53.0	57.0	56.0					11																	133795713		2095	4228	6323	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133795713C>A	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.1955G>T	11.37:g.133795713C>A	ENSP00000317980:p.Arg652Leu					IGSF9B_uc001qgy.1_Missense_Mutation_p.R494L	p.R652L	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)	14	2186	-	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)	652			Fibronectin type-III 2.|Extracellular (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1955G>T		.	.	.	.	.	.	.	.	.	.	C	34	5.333339	0.95758	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.58797	0.31;0.31;0.31	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.43747	D	0.000521	T	0.79941	0.4533	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83196	-0.0081	10	0.87932	D	0	.	19.0783	0.93171	0.0:1.0:0.0:0.0	.	652	Q9UPX0	TUTLB_HUMAN	L	652;494;652	ENSP00000317980:R652L;ENSP00000436552:R494L;ENSP00000436576:R652L	ENSP00000317980:R652L	R	-	2	0	IGSF9B	133300923	1.000000	0.71417	0.988000	0.46212	0.898000	0.52572	7.726000	0.84824	2.504000	0.84457	0.655000	0.94253	CGT		PASS	0.587	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	18	7	18	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134158771	134158771	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:134158771C>A	ENST00000431683.2	+	7	716	c.716C>A	c.(715-717)cCg>cAg	p.P239Q	GLB1L3_ENST00000389887.5_Missense_Mutation_p.P239Q	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	239					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.P239Q(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)		ACATACATGCCGTATCTCCAC	0.512																																						uc009zdf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(715-717)CCG>CAG		galactosidase, beta 1 like 3							68.0	69.0	69.0					11																	134158771		1999	4162	6161	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134158771C>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.716C>A	11.37:g.134158771C>A	ENSP00000396615:p.Pro239Gln					GLB1L3_uc010scs.1_Missense_Mutation_p.P239Q|GLB1L3_uc010sct.1_Missense_Mutation_p.P91Q	p.P239Q	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)	7	1076	+	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)	239					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.716C>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307942	0.23821	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97688	-4.49;-4.49	5.01	0.897	0.19258	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91526	0.7324	N	0.12422	0.21	0.09310	N	1	P;B	0.37573	0.6;0.032	B;B	0.37731	0.257;0.111	D	0.86311	0.1686	9	0.19147	T	0.46	.	4.8679	0.13618	0.3074:0.5293:0.0:0.1633	.	239;239	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	Q	239	ENSP00000374537:P239Q;ENSP00000396615:P239Q	ENSP00000374537:P239Q	P	+	2	0	GLB1L3	133663981	0.043000	0.20138	0.002000	0.10522	0.007000	0.05969	0.674000	0.25218	0.076000	0.16826	-0.119000	0.15052	CCG		PASS	0.512	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		3	23	3	23	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134240229	134240229	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr11:134240229C>A	ENST00000535456.2	+	12	1339	c.1151C>A	c.(1150-1152)cCg>cAg	p.P384Q	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P384Q|GLB1L2_ENST00000339772.7_Missense_Mutation_p.P384Q	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	384					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.P384Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCAAGATGCCGTATGAGCCC	0.592																																						uc001qhp.2																			1	Substitution - Missense(1)	p.P384S(1)	lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1150-1152)CCG>CAG		galactosidase, beta 1-like 2 precursor							253.0	215.0	228.0					11																	134240229		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240229C>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1151C>A	11.37:g.134240229C>A	ENSP00000444628:p.Pro384Gln					GLB1L2_uc009zdg.1_RNA	p.P384Q	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	12	1339	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	384					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1151C>A	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	9.912	1.209802	0.22289	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.96885	-4.16;-4.16;-4.16	5.06	1.61	0.23674	.	1.521140	0.03392	N	0.202033	D	0.91365	0.7276	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.82760	-0.0298	10	0.33141	T	0.24	-0.3325	7.5659	0.27879	0.0:0.6494:0.0:0.3506	.	384	Q8IW92	GLBL2_HUMAN	Q	384	ENSP00000344659:P384Q;ENSP00000444628:P384Q;ENSP00000374531:P384Q	ENSP00000344659:P384Q	P	+	2	0	GLB1L2	133745439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	1.015000	0.29963	0.553000	0.29044	-0.152000	0.13540	CCG		PASS	0.592	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		5	124	5	124	---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	475235	475235	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:475235G>T	ENST00000399788.2	-	4	764	c.402C>A	c.(400-402)acC>acA	p.T134T	KDM5A_ENST00000382815.4_Silent_p.T134T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	134	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.T134T(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTTCTCTTTGGTGACCATTT	0.388			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(400-402)ACC>ACA		retinoblastoma binding protein 2 isoform 1							261.0	261.0	261.0					12																	475235		1829	4077	5906	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:475235G>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.402C>A	12.37:g.475235G>T						KDM5A_uc001qie.1_Silent_p.T134T|KDM5A_uc010sdn.1_Silent_p.T93T|KDM5A_uc010sdo.1_Intron	p.T134T	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			4	765	-			134			ARID.		A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.402C>A	CCDS41736.1																																																																																				PASS	0.388	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		7	249	7	249	---	---	---	---
WNT5B	81029	broad.mit.edu	37	12	1749040	1749040	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:1749040G>A	ENST00000397196.2	+	4	751	c.519G>A	c.(517-519)aaG>aaA	p.K173K	WNT5B_ENST00000537031.1_Silent_p.K173K|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Silent_p.K173K	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	173					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.K173K(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCTTCGCCAAGGAGTTTGTGG	0.657																																						uc009zdq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(517-519)AAG>AAA		wingless-type MMTV integration site family,							28.0	36.0	34.0					12																	1749040		2203	4300	6503	SO:0001819	synonymous_variant	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1749040G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.519G>A	12.37:g.1749040G>A						WNT5B_uc001qjj.2_Silent_p.K173K|WNT5B_uc001qjk.2_Silent_p.K173K|WNT5B_uc001qjl.2_Silent_p.K173K	p.K173K	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		4	761	+	Ovarian(42;0.107)		173					A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	c.519G>A	CCDS8510.1																																																																																				PASS	0.657	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			3	9	3	9	---	---	---	---
ADIPOR2	79602	broad.mit.edu	37	12	1889730	1889730	+	Missense_Mutation	SNP	C	C	T	rs201727993		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:1889730C>T	ENST00000357103.4	+	5	828	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	193					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.L193F(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AGGAGCCATTCTCTGCCTTTC	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		15985	0.001		0.0	False		,,,				2504	0.0					uc001qjm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CTC>TTC		adiponectin receptor 2							155.0	154.0	155.0					12																	1889730		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889730C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.577C>T	12.37:g.1889730C>T	ENSP00000349616:p.Leu193Phe					ADIPOR2_uc001qjn.2_Missense_Mutation_p.L193F	p.L193F	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	774	+	Ovarian(42;0.107)		193			Helical; Name=2; (Potential).		Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.577C>T	CCDS8511.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.207900	0.95033	.	.	ENSG00000006831	ENST00000357103	T	0.31769	1.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	N	0.21240	0.645	0.80722	D	1	P	0.51933	0.949	P	0.48089	0.566	T	0.01488	-1.1342	10	0.16420	T	0.52	-20.6397	20.1865	0.98220	0.0:1.0:0.0:0.0	.	193	Q86V24	ADR2_HUMAN	F	193	ENSP00000349616:L193F	ENSP00000349616:L193F	L	+	1	0	ADIPOR2	1759991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.091000	0.71406	2.775000	0.95449	0.655000	0.94253	CTC		PASS	0.458	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		30	68	30	68	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	2022270	2022270	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:2022270C>T	ENST00000382722.5	-	3	707	c.345G>A	c.(343-345)gaG>gaA	p.E115E	CACNA2D4_ENST00000587995.1_Silent_p.E115E|CACNA2D4_ENST00000585708.1_Silent_p.E51E|CACNA2D4_ENST00000586184.1_Silent_p.E115E|CACNA2D4_ENST00000585732.1_Silent_p.E115E|CACNA2D4_ENST00000588077.1_Silent_p.E51E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	115					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E115E(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CATCCACCTCCTCGATCTTCA	0.532																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(343-345)GAG>GAA		voltage-gated calcium channel alpha(2)delta-4							143.0	160.0	155.0					12																	2022270		2119	4235	6354	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2022270C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.345G>A	12.37:g.2022270C>T						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.E115E	p.E115E	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	3	576	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	115			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.345G>A	CCDS44785.1																																																																																				PASS	0.532	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			13	21	13	21	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2062288	2062288	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:2062288G>A	ENST00000280665.6	-	7	897	c.818C>T	c.(817-819)tCc>tTc	p.S273F	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.S147F|DCP1B_ENST00000397173.4_Missense_Mutation_p.S171F	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	273					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.S273F(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATAGGACAGGGAGCGTACAAC	0.572																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(817-819)TCC>TTC		decapping enzyme Dcp1b							57.0	60.0	59.0					12																	2062288		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062288G>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.818C>T	12.37:g.2062288G>A	ENSP00000280665:p.Ser273Phe					DCP1B_uc010sdy.1_Missense_Mutation_p.S171F	p.S273F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	898	-			273					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.818C>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808309	0.70797	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.26067	1.89;1.86;1.76	5.13	5.13	0.70059	.	0.175127	0.51477	D	0.000086	T	0.50531	0.1621	M	0.67953	2.075	0.48975	D	0.999732	D;D	0.89917	1.0;1.0	D;D	0.73380	0.96;0.98	T	0.51124	-0.8745	10	0.72032	D	0.01	-18.6398	17.7466	0.88422	0.0:0.0:1.0:0.0	.	171;273	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	F	273;171;147	ENSP00000280665:S273F;ENSP00000380358:S171F;ENSP00000444374:S147F	ENSP00000280665:S273F	S	-	2	0	DCP1B	1932549	1.000000	0.71417	0.950000	0.38849	0.663000	0.39108	6.872000	0.75536	2.666000	0.90696	0.650000	0.86243	TCC		PASS	0.572	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		10	19	10	19	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2602441	2602441	+	Silent	SNP	C	C	A	rs112002520		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:2602441C>A	ENST00000347598.4	+	7	1002	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	CACNA1C_ENST00000399621.1_Silent_p.P334P|CACNA1C_ENST00000406454.3_Silent_p.P334P|CACNA1C_ENST00000399603.1_Silent_p.P334P|CACNA1C_ENST00000327702.7_Silent_p.P334P|CACNA1C_ENST00000399634.1_Silent_p.P334P|CACNA1C_ENST00000399597.1_Silent_p.P334P|CACNA1C_ENST00000344100.3_Silent_p.P334P|CACNA1C_ENST00000399638.1_Silent_p.P334P|CACNA1C_ENST00000399644.1_Silent_p.P334P|CACNA1C_ENST00000399601.1_Silent_p.P334P|CACNA1C_ENST00000399595.1_Silent_p.P334P|CACNA1C_ENST00000399641.1_Silent_p.P334P|CACNA1C_ENST00000399617.1_Silent_p.P334P|CACNA1C_ENST00000399606.1_Silent_p.P334P|CACNA1C_ENST00000399629.1_Silent_p.P334P|CACNA1C_ENST00000480911.1_Silent_p.P334P|CACNA1C_ENST00000399591.1_Silent_p.P334P|CACNA1C_ENST00000399655.1_Silent_p.P334P|CACNA1C_ENST00000399637.1_Silent_p.P334P|CACNA1C_ENST00000335762.5_Silent_p.P334P|CACNA1C_ENST00000402845.3_Silent_p.P334P|CACNA1C_ENST00000399649.1_Silent_p.P334P	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	334					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P334P(6)|p.P364P(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGCAAGCCCGGCTGGGATG	0.602																																						uc009zdu.1																			8	Substitution - coding silent(8)		lung(8)	ovary(10)|central_nervous_system(1)	11						c.(1000-1002)CCC>CCA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						116.0	117.0	116.0					12																	2602441		2197	4294	6491	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602441C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1002C>A	12.37:g.2602441C>A						CACNA1C_uc009zdv.1_Silent_p.P331P|CACNA1C_uc001qkb.2_Silent_p.P334P|CACNA1C_uc001qkc.2_Silent_p.P334P|CACNA1C_uc001qke.2_Silent_p.P334P|CACNA1C_uc001qkf.2_Silent_p.P334P|CACNA1C_uc001qjz.2_Silent_p.P334P|CACNA1C_uc001qkd.2_Silent_p.P334P|CACNA1C_uc001qkg.2_Silent_p.P334P|CACNA1C_uc009zdw.1_Silent_p.P334P|CACNA1C_uc001qkh.2_Silent_p.P334P|CACNA1C_uc001qkl.2_Silent_p.P334P|CACNA1C_uc001qkn.2_Silent_p.P334P|CACNA1C_uc001qko.2_Silent_p.P334P|CACNA1C_uc001qkp.2_Silent_p.P334P|CACNA1C_uc001qkr.2_Silent_p.P334P|CACNA1C_uc001qku.2_Silent_p.P334P|CACNA1C_uc001qkq.2_Silent_p.P334P|CACNA1C_uc001qks.2_Silent_p.P334P|CACNA1C_uc001qkt.2_Silent_p.P334P|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.P70P|CACNA1C_uc001qkj.1_Silent_p.P70P|CACNA1C_uc001qkk.1_Silent_p.P70P|CACNA1C_uc001qkm.1_Silent_p.P70P	p.P334P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1315	+			334			I.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1002C>A	CCDS44788.1																																																																																				PASS	0.602	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		5	110	5	110	---	---	---	---
KCNA1	3736	broad.mit.edu	37	12	5021808	5021808	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:5021808G>A	ENST00000382545.3	+	2	2371	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	422					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.E422K(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AACTGAGGGGGAAGAGCAGGC	0.522																																						uc001qnh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1264-1266)GAA>AAA		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						236.0	236.0	236.0					12																	5021808		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021808G>A	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1264G>A	12.37:g.5021808G>A	ENSP00000371985:p.Glu422Lys						p.E422K	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2369	+			422					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1264G>A	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565185	0.65651	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96522	-4.04	5.16	5.16	0.70880	.	0.051522	0.85682	D	0.000000	D	0.96670	0.8913	M	0.89353	3.025	0.80722	D	1	B	0.15473	0.013	B	0.21151	0.033	D	0.94650	0.7838	10	0.59425	D	0.04	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	422	Q09470	KCNA1_HUMAN	K	422	ENSP00000371985:E422K	ENSP00000228858:E422K	E	+	1	0	KCNA1	4892069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.522	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		80	205	80	205	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153901	5153901	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:5153901C>T	ENST00000252321.3	+	1	817	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	196					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.F196F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGGACGTGTTCGCGGACGAGA	0.632																																						uc001qni.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(586-588)TTC>TTT		potassium voltage-gated channel, shaker-related							44.0	47.0	46.0					12																	5153901		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153901C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.588C>T	12.37:g.5153901C>T							p.F196F	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	817	+			196					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.588C>T	CCDS8536.1																																																																																				PASS	0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		14	32	14	32	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603968	5603968	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:5603968G>A	ENST00000331010.6	+	1	671	c.588G>A	c.(586-588)aaG>aaA	p.K196K	NTF3_ENST00000423158.3_Silent_p.K209K|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	196					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.K196K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGCGATGTAAGGAAGCCAGGC	0.507																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(586-588)AAG>AAA		neurotrophin 3 isoform 2 preproprotein							57.0	55.0	56.0					12																	5603968		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603968G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.588G>A	12.37:g.5603968G>A						NTF3_uc001qnk.3_Silent_p.K209K	p.K196K	NM_002527	NP_002518	P20783	NTF3_HUMAN			1	671	+			196					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.588G>A	CCDS8538.1																																																																																				PASS	0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			19	34	19	34	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5687656	5687656	+	Silent	SNP	G	G	A	rs373194140		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:5687656G>A	ENST00000356134.5	-	23	2336	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	ANO2_ENST00000546188.1_Silent_p.F755F|ANO2_ENST00000327087.8_Silent_p.F754F	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	759					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0					uc001qnm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2260-2262)TTC>TTT		anoctamin 2		G		1,4151		0,1,2075	67.0	73.0	71.0		2262	-4.8	0.9	12		71	0,8434		0,0,4217	no	coding-synonymous	ANO2	NM_020373.2		0,1,6292	AA,AG,GG		0.0,0.0241,0.0079		754/999	5687656	1,12585	2076	4217	6293	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687656G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2265C>T	12.37:g.5687656G>A							p.F754F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			22	2334	-			759			Helical; (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.2262C>T																																																																																					PASS	0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		10	14	10	14	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5936980	5936980	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:5936980C>T	ENST00000356134.5	-	8	909	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ANO2_ENST00000546188.1_Missense_Mutation_p.E280K|ANO2_ENST00000327087.8_Missense_Mutation_p.E279K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	284					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E280K(1)|p.E279K(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGGATCTCGTGCACCTAA	0.687																																						uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(835-837)GAG>AAG		anoctamin 2							32.0	38.0	36.0					12																	5936980		2029	4191	6220	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5936980C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.838G>A	12.37:g.5936980C>T	ENSP00000348453:p.Glu280Lys						p.E279K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			7	907	-			284			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.835G>A		.	.	.	.	.	.	.	.	.	.	C	23.0	4.358003	0.82243	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62364	0.03;0.03;0.03	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.86651	2.83	0.51767	D	0.999931	D	0.89917	1.0	D	0.76071	0.987	T	0.79356	-0.1837	10	0.27785	T	0.31	.	14.4646	0.67475	0.0:1.0:0.0:0.0	.	279	Q9NQ90-3	.	K	279;280;280;284	ENSP00000314048:E279K;ENSP00000348453:E280K;ENSP00000440981:E280K	ENSP00000314048:E279K	E	-	1	0	ANO2	5807241	0.989000	0.36119	0.986000	0.45419	0.844000	0.47949	3.575000	0.53870	2.500000	0.84329	0.561000	0.74099	GAG		PASS	0.687	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		3	7	3	7	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6094223	6094223	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6094223C>T	ENST00000261405.5	-	40	7218	c.6964G>A	c.(6964-6966)Gag>Aag	p.E2322K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2322	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E2322K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACTCATACTCGGGGCAGCAC	0.587																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6964-6966)GAG>AAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						99.0	93.0	95.0					12																	6094223		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6094223C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6964G>A	12.37:g.6094223C>T	ENSP00000261405:p.Glu2322Lys					VWF_uc010set.1_Intron	p.E2322K	NM_000552	NP_000543	P04275	VWF_HUMAN			40	7214	-			2322			VWFC 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6964G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648965	0.67358	.	.	ENSG00000110799	ENST00000261405	T	0.35973	1.28	5.33	5.33	0.75918	von Willebrand factor, type C (3);	0.174115	0.27460	N	0.019265	T	0.57359	0.2048	M	0.84846	2.72	0.80722	D	1	D	0.61080	0.989	P	0.54401	0.751	T	0.59188	-0.7501	10	0.28530	T	0.3	.	17.9974	0.89188	0.0:1.0:0.0:0.0	.	2322	P04275	VWF_HUMAN	K	2322	ENSP00000261405:E2322K	ENSP00000261405:E2322K	E	-	1	0	VWF	5964484	1.000000	0.71417	0.942000	0.38095	0.013000	0.08279	5.131000	0.64751	2.482000	0.83794	0.561000	0.74099	GAG		PASS	0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	44	16	44	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6101092	6101092	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6101092G>A	ENST00000261405.5	-	38	6945	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2231	E2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2231S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTTCGGAGGGATGGTCCCCA	0.562																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6691-6693)CCC>TCC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						103.0	81.0	89.0					12																	6101092		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6101092G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6691C>T	12.37:g.6101092G>A	ENSP00000261405:p.Pro2231Ser					VWF_uc010set.1_Intron	p.P2231S	NM_000552	NP_000543	P04275	VWF_HUMAN			38	6941	-			2231			E2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6691C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	g	11.56	1.676124	0.29783	.	.	ENSG00000110799	ENST00000261405	D	0.90324	-2.65	5.64	5.64	0.86602	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.43919	D	0.000511	D	0.92655	0.7666	M	0.79475	2.455	0.80722	D	1	D	0.57899	0.981	P	0.56514	0.8	D	0.89940	0.4072	10	0.14252	T	0.57	.	12.0662	0.53590	0.078:0.0:0.922:0.0	.	2231	P04275	VWF_HUMAN	S	2231	ENSP00000261405:P2231S	ENSP00000261405:P2231S	P	-	1	0	VWF	5971353	1.000000	0.71417	0.231000	0.23993	0.858000	0.48976	6.895000	0.75660	2.639000	0.89480	0.643000	0.83706	CCC		PASS	0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		20	20	20	20	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6125939	6125939	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6125939G>A	ENST00000261405.5	-	29	5405	c.5151C>T	c.(5149-5151)ttC>ttT	p.F1717F		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1717	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.F1717F(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTTTGAAATGAAAGCCTTGG	0.483																																						uc001qnn.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(5149-5151)TTC>TTT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						72.0	80.0	78.0					12																	6125939		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125939G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5151C>T	12.37:g.6125939G>A						VWF_uc010set.1_Intron	p.F1717F	NM_000552	NP_000543	P04275	VWF_HUMAN			29	5401	-			1717			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5151C>T	CCDS8539.1																																																																																				PASS	0.483	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	75	24	75	---	---	---	---
SCNN1A	6337	broad.mit.edu	37	12	6483928	6483928	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6483928C>T	ENST00000228916.2	-	2	120	c.22G>A	c.(22-24)Gag>Aag	p.E8K	SCNN1A_ENST00000358945.3_Missense_Mutation_p.E8K|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E67K|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E31K|SCNN1A_ENST00000396966.2_Missense_Mutation_p.E8K|LTBR_ENST00000539925.1_5'Flank	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	8					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)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.E8K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGTCCTGCTCCTCCAGCTTG	0.642																																						uc001qnx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)GAG>AAG		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						50.0	51.0	51.0					12																	6483928		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6483928C>T	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.22G>A	12.37:g.6483928C>T	ENSP00000228916:p.Glu8Lys					SCNN1A_uc001qnw.2_Missense_Mutation_p.E67K|SCNN1A_uc010sfb.1_Missense_Mutation_p.E31K|LTBR_uc010sfc.1_5'Flank	p.E8K	NM_001038	NP_001029	P37088	SCNNA_HUMAN			2	311	-			8			Cytoplasmic (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.22G>A	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665507	0.14710	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768;ENST00000536788	T;T;T;T;T;D	0.86297	-0.39;-0.49;-0.43;-0.12;-0.37;-2.1	1.84	0.668	0.17912	.	0.823023	0.11018	N	0.608775	T	0.77671	0.4165	L	0.38175	1.15	0.09310	N	1	B;B;B	0.25105	0.118;0.049;0.103	B;B;B	0.22386	0.026;0.008;0.039	T	0.64266	-0.6448	10	0.33940	T	0.23	-6.7655	5.3389	0.15973	0.0:0.6334:0.3665:0.0	.	31;8;67	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	K	67;8;8;8;31;29	ENSP00000353292:E67K;ENSP00000351825:E8K;ENSP00000228916:E8K;ENSP00000380166:E8K;ENSP00000438739:E31K;ENSP00000443434:E29K	ENSP00000228916:E8K	E	-	1	0	SCNN1A	6354189	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-1.737000	0.01843	0.998000	0.38996	0.462000	0.41574	GAG		PASS	0.642	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			14	30	14	30	---	---	---	---
IFFO1	25900	broad.mit.edu	37	12	6650684	6650684	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6650684C>T	ENST00000396840.2	-	8	1609	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000356896.4_Missense_Mutation_p.G527E|IFFO1_ENST00000436152.2_Missense_Mutation_p.G220E|IFFO1_ENST00000336604.4_Missense_Mutation_p.G526E|IFFO1_ENST00000465801.1_Missense_Mutation_p.G219E			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	523						intermediate filament (GO:0005882)		p.G523E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTACCGGTCTCCAGACTGGGT	0.642																																						uc001qpd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1567-1569)GGA>GAA		intermediate filament family orphan isoform 2							54.0	54.0	54.0					12																	6650684		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6650684C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1568G>A	12.37:g.6650684C>T	ENSP00000380052:p.Gly523Glu					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.G163E|IFFO1_uc001qpb.1_Missense_Mutation_p.G200E|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.G535E|IFFO1_uc001qpf.1_Missense_Mutation_p.G526E|IFFO1_uc001qoz.1_Missense_Mutation_p.G164E|IFFO1_uc001qpc.1_Missense_Mutation_p.G527E|IFFO1_uc001qpg.2_Missense_Mutation_p.G164E	p.G523E	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			8	1602	-			523					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.1568G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.209731|2.209731	0.39003|0.39003	.|.	.|.	ENSG00000010295|ENSG00000010295	ENST00000416019|ENST00000436152;ENST00000465801;ENST00000336604;ENST00000396840;ENST00000356896;ENST00000423501	.|D;D;D;D;D	.|0.89810	.|-2.53;-2.57;-2.22;-2.21;-2.26	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82204|0.82204	0.4986|0.4986	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;B	.|0.49961	.|0.93;0.414;0.93;0.93;0.93;0.154	.|B;B;B;B;B;B	.|0.44044	.|0.439;0.212;0.439;0.439;0.439;0.098	T|T	0.80819|0.80819	-0.1212|-0.1212	5|10	.|0.02654	.|T	.|1	-10.6819|-10.6819	11.3488|11.3488	0.49575|0.49575	0.0:0.9163:0.0:0.0837|0.0:0.9163:0.0:0.0837	.|.	.|526;219;526;523;527;228	.|Q0D2I5-7;Q6P593;Q0D2I5-4;Q0D2I5;Q0D2I5-5;B4DQQ1	.|.;.;.;IFFO1_HUMAN;.;.	K|E	257|220;219;526;523;527;163	.|ENSP00000390721:G220E;ENSP00000436261:G219E;ENSP00000337593:G526E;ENSP00000380052:G523E;ENSP00000349364:G527E	.|ENSP00000337593:G526E	E|G	-|-	1|2	0|0	IFFO1|IFFO1	6520945|6520945	1.000000|1.000000	0.71417|0.71417	0.533000|0.533000	0.28001|0.28001	0.717000|0.717000	0.41224|0.41224	4.080000|4.080000	0.57620|0.57620	2.194000|2.194000	0.70268|0.70268	0.561000|0.561000	0.74099|0.74099	GAG|GGA		PASS	0.642	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	26	8	26	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6969353	6969353	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:6969353C>T	ENST00000229268.8	+	10	1221	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	USP5_ENST00000389231.5_Missense_Mutation_p.S390F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	390	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.S390F(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGGGAGTATTCCAAGCCAGTA	0.572																																						uc001qri.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(1)|skin(1)	4						c.(1168-1170)TCC>TTC		ubiquitin specific peptidase 5 isoform 1							54.0	57.0	56.0					12																	6969353		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6969353C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1169C>T	12.37:g.6969353C>T	ENSP00000229268:p.Ser390Phe					USP5_uc001qrh.3_Missense_Mutation_p.S390F	p.S390F	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			10	1228	+			390					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1169C>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077384	0.94000	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.75821	-0.97;-0.97	5.17	5.17	0.71159	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.91511	0.5227	10	0.87932	D	0	-6.6325	18.8753	0.92332	0.0:1.0:0.0:0.0	.	390;390	P45974;P45974-2	UBP5_HUMAN;.	F	390	ENSP00000229268:S390F;ENSP00000373883:S390F	ENSP00000229268:S390F	S	+	2	0	USP5	6839614	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.651000	0.83577	2.671000	0.90904	0.655000	0.94253	TCC		PASS	0.572	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			7	19	7	19	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7048042	7048043	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7048042_7048043CC>TT	ENST00000356654.4	+	7	3153_3154	c.2916_2917CC>TT	c.(2914-2919)ccCCga>ccTTga	p.R973*	ATN1_ENST00000396684.2_Nonsense_Mutation_p.R973*	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	973					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.R973*(2)|p.P972P(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATCCCTTTCCCCGACATGGGGG	0.658																																						uc001qrw.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2914-2916)CCC>CCT|c.(2917-2919)CGA>TGA		atrophin-1																																				SO:0001587	stop_gained	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7048042C>T|g.chr12:7048043C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		Exception_encountered	12.37:g.7048042_7048043delinsTT	ENSP00000349076:p.Arg973*					ATN1_uc001qrx.1_Silent_p.P972P|ATN1_uc001qrx.1_Nonsense_Mutation_p.R973*	p.P972P|p.R973*	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			7	3153|3154	+			972|973					Q99495|Q99621|Q9UEK7	Silent|Nonsense_Mutation	SNP	ENST00000356654.4	37	c.2916C>T|c.2917C>T	CCDS31734.1																																																																																				PASS	0.658	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22|25	15	22	15	---	---	---	---
C1S	716	broad.mit.edu	37	12	7171671	7171671	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7171671C>T	ENST00000406697.1	+	8	1120	c.492C>T	c.(490-492)ctC>ctT	p.L164L	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Silent_p.L164L|C1S_ENST00000360817.5_Silent_p.L164L			P09871	C1S_HUMAN	complement component 1, s subcomponent	164	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.L164L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AATATTTCCTCCATGATGACA	0.468																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(490-492)CTC>CTT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						123.0	112.0	116.0					12																	7171671		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7171671C>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.492C>T	12.37:g.7171671C>T						C1S_uc001qsk.2_Silent_p.L164L|C1S_uc001qsl.2_Silent_p.L164L|C1S_uc009zfr.2_5'UTR|C1S_uc009zfs.2_RNA	p.L164L	NM_201442	NP_958850	P09871	C1S_HUMAN			8	1211	+			164			EGF-like; calcium-binding.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.492C>T	CCDS31735.1																																																																																				PASS	0.468	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		15	47	15	47	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7281010	7281010	+	5'Flank	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7281010G>A	ENST00000266546.6	+	0	0				RP11-273B20.1_ENST00000538062.1_RNA|RBP5_ENST00000266560.3_Silent_p.I26I|RBP5_ENST00000542370.1_Silent_p.I26I|RP11-273B20.1_ENST00000544657.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.I26I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CAGCCAAGCTGATGTCTGTGG	0.612																																						uc001qsq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(76-78)ATC>ATT		retinol binding protein 5, cellular	Vitamin A(DB00162)						80.0	72.0	75.0					12																	7281010		2203	4300	6503	SO:0001631	upstream_gene_variant	83758					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr12:7281010G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7281010G>A	Exception_encountered					CLSTN3_uc001qsr.2_5'Flank	p.I26I	NM_031491	NP_113679	P82980	RET5_HUMAN			2	173	-			26					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.78C>T	CCDS8575.1																																																																																				PASS	0.612	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		5	21	5	21	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7475830	7475830	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7475830G>A	ENST00000399422.4	+	8	1174	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	376					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.G376R(2)		endometrium(6)|kidney(1)|lung(14)	21						CTCTCAATAGGGAATGATTTG	0.353																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1126-1128)GGA>AGA		acyl-CoA synthetase medium-chain family member 4							52.0	48.0	49.0					12																	7475830		1827	4090	5917	SO:0001630	splice_region_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7475830G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1126-1G>A	12.37:g.7475830G>A							p.G376R	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			8	1126	+			376					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1126G>A	CCDS44825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.05|12.05	1.822361|1.822361	0.32237|0.32237	.|.	.|.	ENSG00000215009|ENSG00000215009	ENST00000399422|ENST00000524777	T|.	0.45668|.	0.89|.	2.99|2.99	2.99|2.99	0.34606|0.34606	AMP-dependent synthetase/ligase (1);|.	0.000000|.	0.31760|.	U|.	0.007114|.	T|T	0.77130|0.77130	0.4085|0.4085	M|M	0.87097|0.87097	2.86|2.86	0.47037|0.47037	D|D	0.99929|0.99929	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	T|T	0.80630|0.80630	-0.1297|-0.1297	9|5	.|.	.|.	.|.	-6.2369|-6.2369	12.171|12.171	0.54160|0.54160	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	376|.	P0C7M7|.	ACSM4_HUMAN|.	R|Q	376|53	ENSP00000382349:G376R|.	.|.	G|R	+|+	1|2	0|0	ACSM4|ACSM4	7367097|7367097	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.151000|0.151000	0.21798|0.21798	7.194000|7.194000	0.77789|0.77789	1.976000|1.976000	0.57569|0.57569	0.557000|0.557000	0.71058|0.71058	GGA|CGG		PASS	0.353	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	Missense_Mutation	11	17	11	17	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7559321	7559321	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7559321G>A	ENST00000313599.3	-	5	951	c.894C>T	c.(892-894)gtC>gtT	p.V298V	CD163L1_ENST00000396630.1_Silent_p.V298V|CD163L1_ENST00000416109.2_Silent_p.V308V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	298	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.V298V(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCTTGCATACGACATCAGCTG	0.517																																						uc001qsy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(892-894)GTC>GTT		scavenger receptor cysteine-rich type 1							319.0	245.0	270.0					12																	7559321		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559321G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.894C>T	12.37:g.7559321G>A						CD163L1_uc010sge.1_Silent_p.V308V	p.V298V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	920	-			298			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.894C>T	CCDS8577.1																																																																																				PASS	0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		34	55	34	55	---	---	---	---
DPPA3	359787	broad.mit.edu	37	12	7868817	7868817	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7868817G>A	ENST00000345088.2	+	3	468	c.351G>A	c.(349-351)aaG>aaA	p.K117K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	117					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.K117K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAACAAACAAGGAGCCTAAGG	0.289																																						uc001qtf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)AAG>AAA		stella							49.0	54.0	52.0					12																	7868817		2203	4300	6503	SO:0001819	synonymous_variant	359787					cytoplasm|nucleus		g.chr12:7868817G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.351G>A	12.37:g.7868817G>A							p.K117K	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	3	429	+			117					Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	37	c.351G>A	CCDS8582.1																																																																																				PASS	0.289	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		12	15	12	15	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7984256	7984256	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:7984256G>A	ENST00000543909.1	-	9	1044	c.285C>T	c.(283-285)tcC>tcT	p.S95S	SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000431042.2_Silent_p.S72S|SLC2A14_ENST00000340749.5_Silent_p.S72S|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Silent_p.S95S|SLC2A14_ENST00000539924.1_Silent_p.S110S			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	95					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.S95S(1)		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)		TACCCCCGACGGAAAATATGG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qtk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(283-285)TCC>TCT		glucose transporter 14							108.0	99.0	102.0					12																	7984256		2203	4300	6503	SO:0001819	synonymous_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984256G>A	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.285C>T	12.37:g.7984256G>A			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.S72S|SLC2A14_uc001qtm.2_Silent_p.S72S|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.S95S|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.S110S	p.S95S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	1078	-			95			Helical; Name=2; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	c.285C>T	CCDS8585.1																																																																																				PASS	0.493	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		29	45	29	45	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8074150	8074150	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:8074150G>A	ENST00000075120.7	-	10	1590	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	450					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.V450V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGTCTCAGGGACTTTGAAGA	0.478																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1348-1350)GTC>GTT		solute carrier family 2 (facilitated glucose							88.0	85.0	86.0					12																	8074150		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8074150G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1350C>T	12.37:g.8074150G>A							p.V450V	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	10	1612	-			450			Cytoplasmic (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.1350C>T	CCDS8586.1																																																																																				PASS	0.478	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		13	64	13	64	---	---	---	---
CLEC4D	338339	broad.mit.edu	37	12	8673754	8673754	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:8673754G>A	ENST00000299665.2	+	6	728	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G179R(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CAACTCTCAGGGAGAAAACTG	0.353																																						uc001qun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GGA>AGA		C-type lectin domain family 4, member D							124.0	121.0	122.0					12																	8673754		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673754G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.535G>A	12.37:g.8673754G>A	ENSP00000299665:p.Gly179Arg						p.G179R	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			6	728	+	Lung SC(5;0.184)		179			C-type lectin.|Extracellular (Potential).		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.535G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701805	0.30232	.	.	ENSG00000166527	ENST00000299665	T	0.19938	2.11	4.22	0.00679	0.14068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.12475	0.0303	L	0.28694	0.88	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29088	-1.0023	9	0.37606	T	0.19	.	3.5578	0.07870	0.4097:0.2193:0.371:0.0	.	179	Q8WXI8	CLC4D_HUMAN	R	179	ENSP00000299665:G179R	ENSP00000299665:G179R	G	+	1	0	CLEC4D	8565021	0.002000	0.14202	0.006000	0.13384	0.214000	0.24535	-0.512000	0.06313	-0.009000	0.14296	0.643000	0.83706	GGA		PASS	0.353	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		25	20	25	20	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9304839	9304839	+	Missense_Mutation	SNP	G	G	A	rs147424033		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:9304839G>A	ENST00000261336.2	-	32	4217	c.4189C>T	c.(4189-4191)Ccc>Tcc	p.P1397S	PZP_ENST00000381997.2_Missense_Mutation_p.P1183S	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1397					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P1397S(1)|p.P1183S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGTTTCAGGGGAATAAAACCA	0.353																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4189-4191)CCC>TCC		pregnancy-zone protein precursor							125.0	121.0	122.0					12																	9304839		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9304839G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4189C>T	12.37:g.9304839G>A	ENSP00000261336:p.Pro1397Ser					PZP_uc009zgl.2_Missense_Mutation_p.P1183S	p.P1397S	NM_002864	NP_002855					32	4218	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4189C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214219	0.39102	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.24723	1.84;1.84	3.69	2.76	0.32466	Alpha-macroglobulin, receptor-binding (3);	0.000000	0.56097	U	0.000026	T	0.54415	0.1857	M	0.93016	3.37	0.09310	N	1	P;D	0.89917	0.798;1.0	B;D	0.74674	0.195;0.984	T	0.49123	-0.8972	10	0.66056	D	0.02	.	8.3794	0.32461	0.0937:0.1601:0.7462:0.0	.	1183;1397	P20742-2;P20742	.;PZP_HUMAN	S	1397;1183	ENSP00000261336:P1397S;ENSP00000371427:P1183S	ENSP00000261336:P1397S	P	-	1	0	PZP	9196106	1.000000	0.71417	0.017000	0.16124	0.845000	0.48019	5.326000	0.65875	0.802000	0.34089	0.563000	0.77884	CCC		PASS	0.353	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		14	46	14	46	---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10218158	10218158	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:10218158C>T	ENST00000355819.1	+	9	1266	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	218	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S218F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AAAAGCAATTCCCTTCTTTCG	0.428																																						uc001qxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(652-654)TCC>TTC		C-type lectin domain family 9, member A							208.0	169.0	182.0					12																	10218158		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10218158C>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.653C>T	12.37:g.10218158C>T	ENSP00000348074:p.Ser218Phe						p.S218F	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			9	1266	+			218			Extracellular (Potential).|C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.653C>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271286	0.10349	.	.	ENSG00000197992	ENST00000355819	T	0.17854	2.25	4.79	-5.08	0.02929	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	2.980900	0.01393	N	0.013304	T	0.12008	0.0292	L	0.38175	1.15	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.18713	-1.0328	10	0.33940	T	0.23	.	3.3273	0.07071	0.1145:0.3876:0.3396:0.1583	.	218	Q6UXN8	CLC9A_HUMAN	F	218	ENSP00000348074:S218F	ENSP00000348074:S218F	S	+	2	0	CLEC9A	10109425	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.162000	0.03141	-1.126000	0.02929	0.650000	0.86243	TCC		PASS	0.428	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		26	36	26	36	---	---	---	---
KLRD1	3824	broad.mit.edu	37	12	10462062	10462062	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:10462062G>A	ENST00000381907.4	+	3	285	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KLRD1_ENST00000543420.1_Missense_Mutation_p.G28E|KLRD1_ENST00000381908.3_Missense_Mutation_p.G28E|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000543777.1_Missense_Mutation_p.G28E|KLRD1_ENST00000336164.4_Missense_Mutation_p.G28E|KLRD1_ENST00000538997.1_Intron	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	28					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.G28E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTACGTTGGGAATTTTGTTG	0.348																																						uc001qxw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)GGA>GAA		killer cell lectin-like receptor subfamily D,							103.0	93.0	96.0					12																	10462062		2203	4300	6503	SO:0001583	missense	3824				cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10462062G>A	U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.83G>A	12.37:g.10462062G>A	ENSP00000371332:p.Gly28Glu					KLRD1_uc001qxx.3_Missense_Mutation_p.G28E|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.G28E|KLRD1_uc009zhi.2_Missense_Mutation_p.G28E|KLRD1_uc001qxz.3_Missense_Mutation_p.G28E	p.G28E	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN			3	280	+			28			Helical; Signal-anchor for type II membrane protein; (Potential).		O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	ENST00000381907.4	37	c.83G>A	CCDS8621.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839206	0.51057	.	.	ENSG00000134539	ENST00000381907;ENST00000381908;ENST00000336164;ENST00000543420;ENST00000543777	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;2.41	4.81	2.88	0.33553	.	0.309004	0.23676	N	0.045678	T	0.65312	0.2679	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.999;0.985;0.998	D;D;D	0.74674	0.984;0.923;0.964	T	0.65340	-0.6192	10	0.66056	D	0.02	.	8.3137	0.32086	0.0:0.171:0.6518:0.1771	.	28;28;28	F6WZH4;Q13241-2;Q13241	.;.;KLRD1_HUMAN	E	28	ENSP00000371332:G28E;ENSP00000371333:G28E;ENSP00000338130:G28E;ENSP00000441074:G28E;ENSP00000443584:G28E	ENSP00000338130:G28E	G	+	2	0	KLRD1	10353329	1.000000	0.71417	0.526000	0.27913	0.024000	0.10985	2.603000	0.46266	0.643000	0.30638	0.585000	0.79938	GGA		PASS	0.348	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399684.2	NM_002262		14	27	14	27	---	---	---	---
YBX3	8531	broad.mit.edu	37	12	10862602	10862602	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:10862602G>A	ENST00000228251.4	-	6	885	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R229C(1)									TACTGAGGGCGATACTGGGGG	0.622																																						uc001qyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|large_intestine(1)	4						c.(685-687)CGC>TGC		cold shock domain protein A isoform a							31.0	34.0	33.0					12																	10862602		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10862602G>A	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.685C>T	12.37:g.10862602G>A	ENSP00000228251:p.Arg229Cys					CSDA_uc001qyu.2_Intron	p.R229C	NM_003651	NP_003642	P16989	DBPA_HUMAN			6	928	-	Glioma(1;0.155)		229					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.685C>T	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584413	0.65992	.	.	ENSG00000060138	ENST00000228251	T	0.27720	1.65	4.31	3.42	0.39159	.	0.263447	0.27739	N	0.018047	T	0.42810	0.1219	M	0.82823	2.61	0.42521	D	0.993002	D	0.69078	0.997	P	0.50754	0.649	T	0.45571	-0.9252	10	0.48119	T	0.1	.	8.0823	0.30752	0.1088:0.0:0.8912:0.0	.	229	P16989	DBPA_HUMAN	C	229	ENSP00000228251:R229C	ENSP00000228251:R229C	R	-	1	0	CSDA	10753869	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	3.090000	0.50191	1.408000	0.46895	0.655000	0.94253	CGC		PASS	0.622	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		4	10	4	10	---	---	---	---
TAS2R8	50836	broad.mit.edu	37	12	10959202	10959202	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:10959202A>G	ENST00000240615.2	-	1	690	c.378T>C	c.(376-378)atT>atC	p.I126I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	126					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.I126I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCACCATATCAATTTTCCACT	0.413																																						uc010shh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(376-378)ATT>ATC		taste receptor, type 2, member 8							81.0	77.0	78.0					12																	10959202		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959202A>G	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.378T>C	12.37:g.10959202A>G							p.I126I	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	378	-			126			Cytoplasmic (Potential).		Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.378T>C	CCDS8632.1																																																																																				PASS	0.413	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			12	39	12	39	---	---	---	---
PRB3	5544	broad.mit.edu	37	12	11421019	11421019	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:11421019C>T	ENST00000279573.7	-	3	299	c.164G>A	c.(163-165)gGa>gAa	p.G55E	PRB3_ENST00000381842.3_Missense_Mutation_p.G55E|PRB3_ENST00000538488.1_Missense_Mutation_p.G55E|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	55	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.G55E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.597																																						uc001qzs.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(163-165)GGA>GAA		proline-rich protein BstNI subfamily 3							158.0	167.0	164.0					12																	11421019		2194	4296	6490	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421019C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.164G>A	12.37:g.11421019C>T	ENSP00000279573:p.Gly55Glu					PRB4_uc001qzf.1_Intron	p.G55E	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	202	-			55			1.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.164G>A		.	.	.	.	.	.	.	.	.	.	.	4.081	0.013021	0.07912	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.09255	3.0;3.0	0.522	-0.8	0.10897	.	0.621176	0.11932	U	0.515599	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.48694	0.914	B	0.37601	0.254	T	0.37150	-0.9718	8	0.27082	T	0.32	.	.	.	.	.	55	Q04118	PRB3_HUMAN	E	55	ENSP00000371264:G55E;ENSP00000442626:G55E	ENSP00000279573:G55E	G	-	2	0	PRB3	11312286	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-1.316000	0.02710	-0.328000	0.08539	0.134000	0.15878	GGA		PASS	0.597	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		48	113	48	113	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461601	11461601	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:11461601C>T	ENST00000535904.1	-	3	349	c.316G>A	c.(316-318)Gga>Aga	p.G106R	PRB4_ENST00000445719.2_Missense_Mutation_p.G106R|PRB4_ENST00000279575.1_Missense_Mutation_p.G106R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	127	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TGGTTTCCTCCTTGTGGGGGT	0.617										HNSCC(22;0.051)																												uc001qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)GGA>AGA		proline-rich protein BstNI subfamily 4							207.0	216.0	213.0					12																	11461601		2203	4299	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461601C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.316G>A	12.37:g.11461601C>T	ENSP00000442834:p.Gly106Arg	HNSCC(22;0.051)				PRB4_uc001qzt.2_Missense_Mutation_p.G106R	p.G106R	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	350	-			148		Missing (in allele M and allele S).	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.316G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.398	-0.919655	0.02396	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.09350	2.99;2.99;2.99	0.769	-0.233	0.13078	.	.	.	.	.	T	0.12178	0.0296	M	0.78456	2.415	0.09310	N	1	B	0.23540	0.087	B	0.18263	0.021	T	0.30822	-0.9965	9	0.54805	T	0.06	.	3.1148	0.06371	0.0:0.6525:0.0:0.3475	.	106	E9PAL0	.	R	106	ENSP00000279575:G106R;ENSP00000442834:G106R;ENSP00000412740:G106R	ENSP00000279575:G106R	G	-	1	0	PRB4	11352868	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.256000	0.18351	-0.115000	0.11915	0.196000	0.17591	GGA		PASS	0.617	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		30	189	30	189	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506298	11506298	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:11506298C>T	ENST00000500254.2	-	4	377	c.340G>A	c.(340-342)Gga>Aga	p.G114R	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.G114R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.G114R(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTTGCCTCCTTGTGGGGGT	0.607																																						uc001qzw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GGA>AGA		proline-rich protein BstNI subfamily 1 isoform 1							82.0	96.0	91.0					12																	11506298		2069	4202	6271	SO:0001583	missense	5542					extracellular region		g.chr12:11506298C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.340G>A	12.37:g.11506298C>T	ENSP00000420826:p.Gly114Arg					PRB1_uc001qzu.1_Missense_Mutation_p.G114R|PRB1_uc001qzv.1_Intron	p.G247R	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	776	-			308		Missing (in clone CP-5).	13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.739G>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652452	0.14580	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.09350	2.99;2.99	1.49	1.49	0.22878	.	.	.	.	.	T	0.25644	0.0624	M	0.76938	2.355	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.58520	0.84;0.84	T	0.04178	-1.0971	8	.	.	.	.	9.0851	0.36577	0.0:1.0:0.0:0.0	.	254;114	Q86YA1;G3V1M9	.;.	R	114	ENSP00000420826:G114R;ENSP00000442127:G114R	.	G	-	1	0	PRB1	11397565	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-0.381000	0.07417	1.176000	0.42840	0.454000	0.30748	GGA		PASS	0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		27	140	27	140	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506313	11506313	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:11506313C>T	ENST00000500254.2	-	4	362	c.325G>A	c.(325-327)Gga>Aga	p.G109R	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.G109R	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)		p.G109R(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.617																																						uc001qzw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)GGA>AGA		proline-rich protein BstNI subfamily 1 isoform 1							62.0	70.0	67.0					12																	11506313		2066	4182	6248	SO:0001583	missense	5542					extracellular region		g.chr12:11506313C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.325G>A	12.37:g.11506313C>T	ENSP00000420826:p.Gly109Arg					PRB1_uc001qzu.1_Missense_Mutation_p.G109R|PRB1_uc001qzv.1_Intron	p.G242R	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	761	-			303		Missing (in clone CP-5).	13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.724G>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	8.578	0.881685	0.17467	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.06068	3.35;3.35	1.49	0.568	0.17333	.	.	.	.	.	T	0.07098	0.0180	M	0.66560	2.04	0.09310	N	1	B;B	0.33135	0.066;0.399	B;B	0.28011	0.012;0.085	T	0.28554	-1.0040	8	.	.	.	.	5.9675	0.19332	0.0:0.8126:0.0:0.1874	.	249;109	Q86YA1;G3V1M9	.;.	R	109	ENSP00000420826:G109R;ENSP00000442127:G109R	.	G	-	1	0	PRB1	11397580	0.002000	0.14202	0.002000	0.10522	0.118000	0.20060	0.521000	0.22893	0.222000	0.20900	0.454000	0.30748	GGA		PASS	0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		32	74	32	74	---	---	---	---
MANSC1	54682	broad.mit.edu	37	12	12483867	12483867	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:12483867C>A	ENST00000535902.1	-	4	953	c.390G>T	c.(388-390)ttG>ttT	p.L130F	MANSC1_ENST00000396349.3_Missense_Mutation_p.L96F|MANSC1_ENST00000545735.1_Missense_Mutation_p.L49F			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	130						integral component of membrane (GO:0016021)		p.L130F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTTGGCTTGGCAAATTTCTGG	0.388																																						uc001rai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)TTG>TTT		MANSC domain containing 1 precursor							86.0	84.0	85.0					12																	12483867		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483867C>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.390G>T	12.37:g.12483867C>A	ENSP00000438205:p.Leu130Phe					MANSC1_uc010shm.1_Missense_Mutation_p.L64F|MANSC1_uc001raj.1_Missense_Mutation_p.L96F|MANSC1_uc009zht.1_Missense_Mutation_p.L49F	p.L130F	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	648	-		Prostate(47;0.0865)	130			Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.390G>T	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729387	0.30684	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.25250	2.12;2.12;1.81	4.66	-0.298	0.12814	.	1.623230	0.04248	N	0.338126	T	0.13372	0.0324	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34015	0.008;0.008;0.435	B;B;B	0.24848	0.004;0.004;0.056	T	0.17137	-1.0379	10	0.30854	T	0.27	-25.4242	3.5587	0.07874	0.3338:0.4354:0.0:0.2308	.	64;96;130	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	F	130;96;49;49	ENSP00000438205:L130F;ENSP00000379638:L96F;ENSP00000445303:L49F	ENSP00000347765:L49F	L	-	3	2	MANSC1	12375134	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.219000	0.09228	0.018000	0.15052	0.491000	0.48974	TTG		PASS	0.388	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		21	44	21	44	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13720178	13720178	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:13720178T>C	ENST00000609686.1	-	12	2588	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	793					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E793E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCAGAGAGCTTCCAGTTCTT	0.488																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2377-2379)GAA>GAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						69.0	68.0	68.0					12																	13720178		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13720178T>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2379A>G	12.37:g.13720178T>C							p.E793E	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			12	2558	-			793			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2379A>G	CCDS8662.1																																																																																				PASS	0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	31	8	31	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018920	14018920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:14018920C>A	ENST00000609686.1	-	2	432	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	75					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E75*(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGTCGGTCTCATTCATGGCT	0.557																																						uc001rbt.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(223-225)GAG>TAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						191.0	164.0	173.0					12																	14018920		2203	4300	6503	SO:0001587	stop_gained	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018920C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.223G>T	12.37:g.14018920C>A	ENSP00000477455:p.Glu75*						p.E75*	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	402	-			75			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	ENST00000609686.1	37	c.223G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	39	7.690287	0.98434	.	.	ENSG00000150086	ENST00000279593	.	.	.	5.37	5.37	0.77165	.	0.113610	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.1153	0.93336	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000279593:E75X	E	-	1	0	GRIN2B	13910187	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.813000	0.86123	2.496000	0.84212	0.563000	0.77884	GAG		PASS	0.557	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			35	51	35	51	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14634064	14634064	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:14634064C>A	ENST00000540793.1	+	12	3380	c.3225C>A	c.(3223-3225)ccC>ccA	p.P1075P	ATF7IP_ENST00000543189.1_Silent_p.P1074P|ATF7IP_ENST00000261168.4_Silent_p.P1075P|ATF7IP_ENST00000544627.1_Silent_p.P1083P|ATF7IP_ENST00000536444.1_Silent_p.P1074P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1075					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.P1075P(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCAGGCTCCCTTGCGAGGAA	0.493																																						uc001rbw.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3223-3225)CCC>CCA		activating transcription factor 7 interacting							83.0	81.0	81.0					12																	14634064		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634064C>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3225C>A	12.37:g.14634064C>A						ATF7IP_uc001rbv.1_Silent_p.P1074P|ATF7IP_uc001rbx.2_Silent_p.P1074P|ATF7IP_uc001rby.3_Silent_p.P1075P|ATF7IP_uc001rca.2_Silent_p.P1075P	p.P1075P	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			13	3383	+			1075					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3225C>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	9.767	1.171701	0.21704	.	.	ENSG00000171681	ENST00000535738	.	.	.	5.43	1.21	0.21127	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	-5.5431	1.2812	0.02041	0.145:0.3732:0.1428:0.339	.	.	.	.	I	89	.	.	L	+	1	0	ATF7IP	14525331	0.909000	0.30893	1.000000	0.80357	0.994000	0.84299	-0.261000	0.08694	0.322000	0.23283	0.650000	0.86243	CTT		PASS	0.493	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		4	50	4	50	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15656871	15656871	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:15656871G>A	ENST00000281171.4	+	6	1465	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	PTPRO_ENST00000543886.1_Missense_Mutation_p.E379K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E379K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	379	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.E379K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GATGGTGGATGAAGAAGCACA	0.368																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(1135-1137)GAA>AAA		receptor-type protein tyrosine phosphatase O							62.0	62.0	62.0					12																	15656871		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15656871G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1135G>A	12.37:g.15656871G>A	ENSP00000281171:p.Glu379Lys					PTPRO_uc001rcw.1_Missense_Mutation_p.E379K|PTPRO_uc001rcu.1_Missense_Mutation_p.E379K	p.E379K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			6	1309	+		Hepatocellular(102;0.244)	379			Fibronectin type-III 4.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1135G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024997	0.93518	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.08370	3.2;3.1	4.77	4.77	0.60923	Fibronectin, type III (1);	0.000000	0.52532	D	0.000064	T	0.19685	0.0473	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.85130	0.997;0.994;0.985	T	0.01613	-1.1312	10	0.45353	T	0.12	.	18.3558	0.90357	0.0:0.0:1.0:0.0	.	379;379;379	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	K	379	ENSP00000281171:E379K;ENSP00000343434:E379K	ENSP00000281171:E379K	E	+	1	0	PTPRO	15548138	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.373000	0.90131	2.627000	0.88993	0.655000	0.94253	GAA		PASS	0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			12	31	12	31	---	---	---	---
STRAP	11171	broad.mit.edu	37	12	16048369	16048369	+	Missense_Mutation	SNP	C	C	T	rs369553392		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:16048369C>T	ENST00000419869.2	+	6	890	c.577C>T	c.(577-579)Cct>Tct	p.P193S	STRAP_ENST00000025399.6_Missense_Mutation_p.P206S|STRAP_ENST00000538352.1_Missense_Mutation_p.P99S	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	193					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)	p.P193S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGAATATATTCCTGAGGGAGA	0.303																																						uc001rdc.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(577-579)CCT>TCT		serine/threonine kinase receptor associated		C	SER/PRO	0,4406		0,0,2203	73.0	77.0	75.0		577	3.8	1.0	12		75	1,8593	1.2+/-3.3	0,1,4296	no	missense	STRAP	NM_007178.3	74	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	193/351	16048369	1,12999	2203	4297	6500	SO:0001583	missense	11171				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding	g.chr12:16048369C>T	AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.577C>T	12.37:g.16048369C>T	ENSP00000392270:p.Pro193Ser					STRAP_uc010shw.1_Missense_Mutation_p.P206S|STRAP_uc001rdd.3_Missense_Mutation_p.P99S	p.P193S	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN			6	931	+		Hepatocellular(102;0.121)	193			WD 5.		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	ENST00000419869.2	37	c.577C>T	CCDS8676.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241111	0.22711	0.0	1.16E-4	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;D;D	0.84442	0.37;-1.85;-1.85	4.71	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.050512	0.85682	D	0.000000	T	0.81650	0.4867	L	0.55103	1.725	0.58432	D	0.999994	B;B	0.19445	0.012;0.036	B;B	0.08055	0.003;0.003	T	0.78460	-0.2195	10	0.41790	T	0.15	-9.7776	14.8684	0.70434	0.0:0.8554:0.1446:0.0	.	206;193	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	S	99;206;193	ENSP00000439761:P99S;ENSP00000025399:P206S;ENSP00000392270:P193S	ENSP00000025399:P206S	P	+	1	0	STRAP	15939636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.494000	0.66905	1.322000	0.45245	0.591000	0.81541	CCT		PASS	0.303	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401114.1	NM_007178		15	22	15	22	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20799438	20799438	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20799438C>T	ENST00000359062.3	+	11	2306	c.2266C>T	c.(2266-2268)Cat>Tat	p.H756Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	756	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.H756Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TAACAGAATCCATGCCACTGA	0.413																																						uc001reh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2266-2268)CAT>TAT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						192.0	160.0	171.0					12																	20799438		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799438C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2266C>T	12.37:g.20799438C>T	ENSP00000351957:p.His756Tyr						p.H756Y	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			11	2288	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	756			Catalytic (By similarity).	Divalent metal cation 1 (By similarity).	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2266C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251660	0.80135	.	.	ENSG00000172572	ENST00000359062	D	0.91521	-2.86	5.94	5.94	0.96194	Metal-dependent phosphohydrolase, HD domain (1);5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96958	0.9699	10	0.87932	D	0	.	19.9567	0.97222	0.0:1.0:0.0:0.0	.	756	Q14432	PDE3A_HUMAN	Y	756	ENSP00000351957:H756Y	ENSP00000351957:H756Y	H	+	1	0	PDE3A	20690705	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	7.433000	0.80362	2.818000	0.97014	0.637000	0.83480	CAT		PASS	0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			9	36	9	36	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20868132	20868132	+	Missense_Mutation	SNP	C	C	T	rs150378278	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20868132C>T	ENST00000266509.2	+	6	957	c.589C>T	c.(589-591)Cgt>Tgt	p.R197C	SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R79C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R197C|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R197C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	197					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R197C(3)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CAATCTTCTTCGTGGAATAGG	0.413																																						uc001rej.3																			3	Substitution - Missense(3)		lung(2)|NS(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(589-591)CGT>TGT		solute carrier organic anion transporter family,		C	CYS/ARG,,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	199.0	189.0	192.0		235,,589,589	5.0	1.0	12	dbSNP_134	192	0,8600		0,0,4300	no	missense,intron,missense,missense	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	180,,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,probably-damaging	79/613,,197/731,197/713	20868132	1,13005	2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20868132C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.589C>T	12.37:g.20868132C>T	ENSP00000266509:p.Arg197Cys					SLCO1C1_uc010sii.1_Missense_Mutation_p.R197C|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.R31C|SLCO1C1_uc001rei.2_Missense_Mutation_p.R197C|SLCO1C1_uc010sik.1_Missense_Mutation_p.R79C	p.R197C	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			7	944	+	Esophageal squamous(101;0.149)		197			Helical; Name=4; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.589C>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772415	0.90108	2.27E-4	0.0	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.80738	0.33;0.33;0.33;-1.41	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.969	D	0.90299	0.4328	10	0.39692	T	0.17	.	18.6411	0.91396	0.0:1.0:0.0:0.0	.	79;197;197	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	C	197;197;197;79	ENSP00000444149:R197C;ENSP00000266509:R197C;ENSP00000370964:R197C;ENSP00000444527:R79C	ENSP00000266509:R197C	R	+	1	0	SLCO1C1	20759399	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.458000	0.80787	2.473000	0.83533	0.563000	0.77884	CGT		PASS	0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		19	49	19	49	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20874867	20874867	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20874867C>T	ENST00000266509.2	+	8	1273	c.905C>T	c.(904-906)tCc>tTc	p.S302F	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S253F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S184F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S302F|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.S302F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	302					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S302F(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTACCAAGATCCCAAAGTAGA	0.413																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(904-906)TCC>TTC		solute carrier organic anion transporter family,							68.0	69.0	69.0					12																	20874867		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874867C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.905C>T	12.37:g.20874867C>T	ENSP00000266509:p.Ser302Phe					SLCO1C1_uc010sii.1_Missense_Mutation_p.S302F|SLCO1C1_uc010sij.1_Missense_Mutation_p.S253F|SLCO1C1_uc009zip.2_Missense_Mutation_p.S136F|SLCO1C1_uc001rei.2_Missense_Mutation_p.S302F|SLCO1C1_uc010sik.1_Missense_Mutation_p.S184F	p.S302F	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1260	+	Esophageal squamous(101;0.149)		302			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.905C>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534809	0.13188	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.97	4.63	1.72	0.24424	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.357704	0.24076	N	0.041778	T	0.50446	0.1616	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.26147	0.069;0.143;0.135;0.073	B;B;B;B	0.38921	0.091;0.192;0.285;0.192	T	0.51356	-0.8716	10	0.62326	D	0.03	.	7.0755	0.25201	0.0:0.5798:0.2673:0.1529	.	184;253;302;302	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	F	302;253;302;302;184	ENSP00000444149:S302F;ENSP00000438665:S253F;ENSP00000266509:S302F;ENSP00000370964:S302F;ENSP00000444527:S184F	ENSP00000266509:S302F	S	+	2	0	SLCO1C1	20766134	0.025000	0.19082	0.151000	0.22473	0.158000	0.22134	1.030000	0.30153	0.640000	0.30582	0.467000	0.42956	TCC		PASS	0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	39	4	39	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20876032	20876032	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20876032C>T	ENST00000266509.2	+	9	1398	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P295S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P226S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P344S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.P344S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	344					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P344S(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AGATTTTCTTCCATCACTGAA	0.413																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1030-1032)CCA>TCA		solute carrier organic anion transporter family,							125.0	118.0	121.0					12																	20876032		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876032C>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1030C>T	12.37:g.20876032C>T	ENSP00000266509:p.Pro344Ser					SLCO1C1_uc010sii.1_Missense_Mutation_p.P344S|SLCO1C1_uc010sij.1_Missense_Mutation_p.P295S|SLCO1C1_uc009zip.2_Missense_Mutation_p.P178S|SLCO1C1_uc001rei.2_Missense_Mutation_p.P344S|SLCO1C1_uc010sik.1_Missense_Mutation_p.P226S	p.P344S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			10	1385	+	Esophageal squamous(101;0.149)		344			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1030C>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578957	0.65878	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.48	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.85945	2.785	0.80722	D	1	D;P;P;D	0.76494	0.999;0.947;0.947;0.969	D;P;P;P	0.66847	0.947;0.877;0.824;0.886	T	0.60895	-0.7172	10	0.13853	T	0.58	.	17.6945	0.88277	0.0:1.0:0.0:0.0	.	226;295;344;344	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	S	344;295;344;344;226	ENSP00000444149:P344S;ENSP00000438665:P295S;ENSP00000266509:P344S;ENSP00000370964:P344S;ENSP00000444527:P226S	ENSP00000266509:P344S	P	+	1	0	SLCO1C1	20767299	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.276000	0.78559	2.475000	0.83589	0.561000	0.74099	CCA		PASS	0.413	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	24	4	24	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20885888	20885888	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20885888G>A	ENST00000266509.2	+	10	1600	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G362E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G293E|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G411E|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G411E	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	411					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G411E(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTCTCTGGGGGGATAGTTATG	0.388																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1231-1233)GGG>GAG		solute carrier organic anion transporter family,							117.0	112.0	114.0					12																	20885888		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20885888G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1232G>A	12.37:g.20885888G>A	ENSP00000266509:p.Gly411Glu					SLCO1C1_uc010sii.1_Missense_Mutation_p.G411E|SLCO1C1_uc010sij.1_Missense_Mutation_p.G362E|SLCO1C1_uc009zip.2_Missense_Mutation_p.G245E|SLCO1C1_uc001rei.2_Missense_Mutation_p.G411E|SLCO1C1_uc010sik.1_Missense_Mutation_p.G293E	p.G411E	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			11	1587	+	Esophageal squamous(101;0.149)		411			Helical; Name=8; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1232G>A	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678191	0.88542	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93054	0.7789	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.94841	0.8005	10	0.87932	D	0	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	293;362;411;411	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	E	411;362;411;411;293	ENSP00000444149:G411E;ENSP00000438665:G362E;ENSP00000266509:G411E;ENSP00000370964:G411E;ENSP00000444527:G293E	ENSP00000266509:G411E	G	+	2	0	SLCO1C1	20777155	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	7.363000	0.79516	2.641000	0.89580	0.591000	0.81541	GGG		PASS	0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		14	23	14	23	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20905317	20905317	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:20905317A>C	ENST00000266509.2	+	15	2362	c.1994A>C	c.(1993-1995)aAg>aCg	p.K665T	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.K616T|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.K581N|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.K699N|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.K699N	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	665					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.K699N(1)|p.K665T(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTCATTTTAAAGAAAAATTAT	0.333																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(1993-1995)AAG>ACG		solute carrier organic anion transporter family,							51.0	52.0	52.0					12																	20905317		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20905317A>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1994A>C	12.37:g.20905317A>C	ENSP00000266509:p.Lys665Thr					SLCO1C1_uc010sii.1_Missense_Mutation_p.K699N|SLCO1C1_uc010sij.1_Missense_Mutation_p.K616T|SLCO1C1_uc009zip.2_Missense_Mutation_p.K533N|SLCO1C1_uc001rei.2_Missense_Mutation_p.K665T|SLCO1C1_uc010sik.1_Missense_Mutation_p.K581N	p.K665T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			16	2349	+	Esophageal squamous(101;0.149)		665			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1994A>C	CCDS8683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.13|16.13	3.035484|3.035484	0.54896|0.54896	.|.	.|.	ENSG00000139155|ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102|ENST00000540354;ENST00000266509	T;T;T|T;T	0.39592|0.60672	1.07;1.07;1.14|0.17;0.17	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.349127|0.349127	0.20884|0.20884	N|N	0.083948|0.083948	T|T	0.46386|0.46386	0.1390|0.1390	N|N	0.08118|0.08118	0|0	0.28086|0.28086	N|N	0.932017|0.932017	D;D|D;P	0.63046|0.52996	0.992;0.964|0.957;0.914	P;P|P;P	0.56563|0.49502	0.801;0.637|0.613;0.558	T|T	0.49716|0.49716	-0.8910|-0.8910	10|10	0.62326|0.87932	D|D	0.03|0	.|.	13.0013|13.0013	0.58676|0.58676	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	581;699|616;665	F5GZD6;Q5JPA4|B7Z3Q3;Q9NYB5	.;.|.;SO1C1_HUMAN	N|T	699;699;581|616;665	ENSP00000444149:K699N;ENSP00000370964:K699N;ENSP00000444527:K581N|ENSP00000438665:K616T;ENSP00000266509:K665T	ENSP00000370964:K699N|ENSP00000266509:K665T	K|K	+|+	3|2	2|0	SLCO1C1|SLCO1C1	20796584|20796584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.111000|4.111000	0.57838|0.57838	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	AAA|AAG		PASS	0.333	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		5	17	5	17	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028281	21028281	+	Silent	SNP	G	G	A	rs555631927		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21028281G>A	ENST00000381545.3	+	9	1059	c.840G>A	c.(838-840)ccG>ccA	p.P280P	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.P280P|SLCO1B3_ENST00000553473.1_Silent_p.P280P|LST3_ENST00000540229.1_Silent_p.P280P|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	280					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.P280P(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)	TTTTCTTGCCGAAAAATCCAA	0.358													.|||	1	0.000199681	0.0	0.0	5008	,	,		16452	0.0		0.001	False		,,,				2504	0.0					uc001rek.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(838-840)CCG>CCA		solute carrier organic anion transporter family,							115.0	112.0	113.0					12																	21028281		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.chr12:21028281G>A		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.840G>A	12.37:g.21028281G>A						SLCO1B3_uc001rel.2_Silent_p.P280P|SLCO1B3_uc010sil.1_Silent_p.P280P|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.P105P	p.P280P	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	966	+	Esophageal squamous(101;0.149)		280			Helical; Name=6; (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.840G>A	CCDS8684.1																																																																																				PASS	0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		19	53	19	53	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21054322	21054322	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21054322G>A	ENST00000381545.3	+	15	2005	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596N|LST3_ENST00000540229.1_Missense_Mutation_p.D596N|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	596					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.D596N(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)	GGCTCTGATTGATAAAACATG	0.378																																						uc001rek.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1786-1788)GAT>AAT		solute carrier organic anion transporter family,							183.0	177.0	179.0					12																	21054322		2203	4300	6503	SO:0001583	missense	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.chr12:21054322G>A		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.1786G>A	12.37:g.21054322G>A	ENSP00000370956:p.Asp596Asn					SLCO1B3_uc001rel.2_Missense_Mutation_p.D596N|SLCO1B3_uc010sil.1_Missense_Mutation_p.D596N|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D421N	p.D596N	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			14	1912	+	Esophageal squamous(101;0.149)		596			Extracellular (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1786G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229379	0.79688	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93337	0.6706	10	0.87932	D	0	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	596;596;596	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	N	596;596;596;420;596	ENSP00000261196:D596N;ENSP00000370956:D596N;ENSP00000451758:D596N;ENSP00000443225:D420N;ENSP00000441269:D596N	ENSP00000441269:D596N	D	+	1	0	SLCO1B3;RP11-545J16.1	20945589	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	7.840000	0.86819	2.213000	0.71641	0.313000	0.20887	GAT		PASS	0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		24	68	24	68	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21453300	21453300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21453300T>A	ENST00000307378.6	-	9	1612	c.892A>T	c.(892-894)Aaa>Taa	p.K298*	SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.K298*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.K166*|SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.K166*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.K296*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	298					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.K298*(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATTCCATATTTTTCCTTCTTG	0.299																																						uc001rer.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(892-894)AAA>TAA		organic anion transporting polypeptide A							89.0	91.0	90.0					12																	21453300		2202	4300	6502	SO:0001587	stop_gained	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453300T>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.892A>T	12.37:g.21453300T>A	ENSP00000305974:p.Lys298*					SLCO1A2_uc001res.2_Nonsense_Mutation_p.K298*|SLCO1A2_uc010siq.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc010sio.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc010sip.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc001ret.2_Nonsense_Mutation_p.K296*|SLCO1A2_uc001reu.2_Nonsense_Mutation_p.K278*	p.K298*	NM_021094	NP_066580	P46721	SO1A2_HUMAN			7	1143	-			298			Cytoplasmic (Potential).		Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	37	c.892A>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	32	5.144930	0.94603	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	.	.	.	5.42	1.68	0.24146	.	3.776830	0.00166	N	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	2.8934	0.05684	0.1357:0.0748:0.2822:0.5074	.	.	.	.	X	298;298;166;166;296	.	ENSP00000305974:K298X	K	-	1	0	SLCO1A2	21344567	0.579000	0.26725	0.026000	0.17262	0.008000	0.06430	1.068000	0.30629	0.318000	0.23185	-0.648000	0.03929	AAA		PASS	0.299	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		5	24	5	24	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21457408G>A	ENST00000307378.6	-	7	1262	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	181					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 membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S181F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCTATATAGGAAATACCCAA	0.373																																						uc001rer.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(541-543)TCC>TTC		organic anion transporting polypeptide A							70.0	70.0	70.0					12																	21457408		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457408G>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.542C>T	12.37:g.21457408G>A	ENSP00000305974:p.Ser181Phe					SLCO1A2_uc001res.2_Missense_Mutation_p.S181F|SLCO1A2_uc010siq.1_Missense_Mutation_p.S49F|SLCO1A2_uc010sio.1_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.1_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.2_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F	p.S181F	NM_021094	NP_066580	P46721	SO1A2_HUMAN			5	793	-			181			Helical; Name=4; (Potential).		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.542C>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487810	0.84854	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	H	0.94886	3.595	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.85104	0.0959	10	0.87932	D	0	.	17.9325	0.89002	0.0:0.0:1.0:0.0	.	161;179;181	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	F	181;181;49;49;179	ENSP00000305974:S181F;ENSP00000393973:S181F;ENSP00000394854:S49F;ENSP00000439401:S49F;ENSP00000375088:S179F	ENSP00000305974:S181F	S	-	2	0	SLCO1A2	21348675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.180000	0.94867	2.466000	0.83321	0.591000	0.81541	TCC		PASS	0.373	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		24	26	24	26	---	---	---	---
GYS2	2998	broad.mit.edu	37	12	21715933	21715933	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21715933G>A	ENST00000261195.2	-	7	1235	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	327					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.F327F(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCCAGCAATGAAAAGGAACA	0.368																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(979-981)TTC>TTT		glycogen synthase 2							103.0	102.0	102.0					12																	21715933		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21715933G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.981C>T	12.37:g.21715933G>A							p.F327F	NM_021957	NP_068776	P54840	GYS2_HUMAN			7	1236	-			327					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.981C>T	CCDS8690.1																																																																																				PASS	0.368	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		18	40	18	40	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:21954063C>T	ENST00000261200.4	-	38	4564	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1522	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G1522E(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408																																						uc001rfh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(4564-4566)GGA>GAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						97.0	91.0	93.0					12																	21954063		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21954063C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4565G>A	12.37:g.21954063C>T	ENSP00000261200:p.Gly1522Glu					ABCC9_uc001rfg.2_Missense_Mutation_p.G51E	p.G1522E	NM_020297	NP_064693	O60706	ABCC9_HUMAN			38	4585	-			1522			Cytoplasmic (Potential).|ABC transporter 2.		O60707	Missense_Mutation	SNP	ENST00000261200.4	37	c.4565G>A	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054691	0.93793	.	.	ENSG00000069431	ENST00000261200	D	0.90955	-2.76	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97479	1.0046	10	0.87932	D	0	-15.5339	18.5784	0.91163	0.0:1.0:0.0:0.0	.	1522;93	O60706-2;Q8N9N1	.;.	E	1522	ENSP00000261200:G1522E	ENSP00000261200:G1522E	G	-	2	0	ABCC9	21845330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.284000	0.78650	2.695000	0.91970	0.650000	0.86243	GGA		PASS	0.408	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691		13	31	13	31	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22047070	22047070	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:22047070C>T	ENST00000261201.4	-	12	1697	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	ABCC9_ENST00000345162.2_Silent_p.L566L|ABCC9_ENST00000261200.4_Silent_p.L566L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	566	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.L566L(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGCAGGTTTCAGATTGTTTC	0.468																																						uc001rfi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1696-1698)CTG>CTA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						144.0	141.0	142.0					12																	22047070		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22047070C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1698G>A	12.37:g.22047070C>T						ABCC9_uc001rfh.2_Silent_p.L566L|ABCC9_uc001rfj.1_Silent_p.L566L	p.L566L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			12	1718	-			566			Extracellular (Potential).|ABC transmembrane type-1 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.1698G>A	CCDS8694.1																																																																																				PASS	0.468	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		13	32	13	32	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22078890	22078890	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:22078890G>T	ENST00000261201.4	-	3	391	c.392C>A	c.(391-393)cCt>cAt	p.P131H	ABCC9_ENST00000326684.4_Missense_Mutation_p.P131H|ABCC9_ENST00000345162.2_Missense_Mutation_p.P131H|ABCC9_ENST00000261200.4_Missense_Mutation_p.P131H|ABCC9_ENST00000538350.1_Missense_Mutation_p.P131H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	131					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.P131H(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AAGTAATTTAGGAAAATTTGA	0.363																																						uc001rfi.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(391-393)CCT>CAT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						87.0	88.0	88.0					12																	22078890		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22078890G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.392C>A	12.37:g.22078890G>T	ENSP00000261201:p.Pro131His					ABCC9_uc001rfh.2_Missense_Mutation_p.P131H|ABCC9_uc001rfj.1_Missense_Mutation_p.P131H|ABCC9_uc001rfk.2_Missense_Mutation_p.P131H|ABCC9_uc001rfl.1_Missense_Mutation_p.P131H	p.P131H	NM_005691	NP_005682	O60706	ABCC9_HUMAN			3	412	-			131			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.392C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433357	0.83776	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	4.47	4.47	0.54385	.	0.055575	0.64402	D	0.000001	D	0.97932	0.9320	M	0.78801	2.425	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.993;0.98	D	0.98288	1.0512	10	0.54805	T	0.06	-17.9908	17.6954	0.88281	0.0:0.0:1.0:0.0	.	131;131;131;131	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	H	131	ENSP00000261200:P131H;ENSP00000261201:P131H;ENSP00000261202:P131H;ENSP00000317518:P131H;ENSP00000442604:P131H	ENSP00000261200:P131H	P	-	2	0	ABCC9	21970157	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.572000	0.98179	2.480000	0.83734	0.561000	0.74099	CCT		PASS	0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		13	45	13	45	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23893870	23893870	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:23893870C>T	ENST00000451604.2	-	5	773	c.672G>A	c.(670-672)aaG>aaA	p.K224K	SOX5_ENST00000541536.1_Silent_p.K211K|SOX5_ENST00000541847.1_Silent_p.K214K|SOX5_ENST00000545921.1_Silent_p.K214K|SOX5_ENST00000537393.1_Silent_p.K189K|SOX5_ENST00000546136.1_Silent_p.K211K|SOX5_ENST00000381381.2_Silent_p.K211K|SOX5_ENST00000309359.1_Silent_p.K211K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	224					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K224K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAGCTAGTTTCTTCTGCTCAT	0.507																																						uc001rfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)	6						c.(670-672)AAG>AAA		SRY (sex determining region Y)-box 5 isoform a							102.0	93.0	96.0					12																	23893870		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23893870C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.672G>A	12.37:g.23893870C>T						SOX5_uc001rfx.2_Silent_p.K211K|SOX5_uc001rfy.2_Silent_p.K211K|SOX5_uc010siv.1_Silent_p.K211K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.K176K	p.K224K	NM_006940	NP_008871	P35711	SOX5_HUMAN			5	774	-			224			Potential.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.672G>A	CCDS8699.1																																																																																				PASS	0.507	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		16	20	16	20	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26868709	26868709	+	Silent	SNP	G	G	A	rs370340968		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:26868709G>A	ENST00000381340.3	-	7	1100	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	228					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.S228S(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCTCTCGATAGGAACTATATT	0.348																																						uc001rhg.2																			1	Substitution - coding silent(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(682-684)TCC>TCT		inositol 1,4,5-triphosphate receptor, type 2		G		1,3749		0,1,1874	102.0	100.0	100.0		684	1.7	1.0	12		100	0,8212		0,0,4106	no	coding-synonymous	ITPR2	NM_002223.2		0,1,5980	AA,AG,GG		0.0,0.0267,0.0084		228/2702	26868709	1,11961	1875	4106	5981	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26868709G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.684C>T	12.37:g.26868709G>A							p.S228S	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			7	1101	-	Colorectal(261;0.0847)		228			Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.684C>T	CCDS41764.1																																																																																				PASS	0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	42	10	42	---	---	---	---
KIAA1551	55196	broad.mit.edu	37	12	32134112	32134112	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:32134112G>T	ENST00000312561.4	+	4	637	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	75								p.V75F(1)									ACAAATTTCTGTTTCTGATAT	0.373																																						uc001rks.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(223-225)GTT>TTT		hypothetical protein LOC55196							82.0	80.0	81.0					12																	32134112		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32134112G>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.223G>T	12.37:g.32134112G>T	ENSP00000310338:p.Val75Phe						p.V75F	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	637	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		75					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.223G>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206217	0.39003	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.07444	3.19;3.19	5.39	-3.06	0.05379	.	1.799240	0.02964	N	0.143515	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	P	0.49635	0.926	P	0.47528	0.549	T	0.33752	-0.9856	9	.	.	.	.	8.6043	0.33764	0.1764:0.3419:0.4817:0.0	.	75	Q9HCM1	CL035_HUMAN	F	75	ENSP00000310338:V75F;ENSP00000370442:V75F	.	V	+	1	0	C12orf35	32025379	0.013000	0.17824	0.000000	0.03702	0.145000	0.21501	-0.028000	0.12350	-0.390000	0.07774	0.650000	0.86243	GTT		PASS	0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		17	30	17	30	---	---	---	---
CPNE8	144402	broad.mit.edu	37	12	39124151	39124151	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:39124151G>A	ENST00000331366.5	-	11	828	c.732C>T	c.(730-732)ttC>ttT	p.F244F	CPNE8_ENST00000360449.3_Silent_p.F232F	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	244	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.F244F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATTCTCCAATGAAATCATGAC	0.279																																						uc001rls.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(730-732)TTC>TTT		copine VIII							74.0	76.0	75.0					12																	39124151		2203	4292	6495	SO:0001819	synonymous_variant	144402							g.chr12:39124151G>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.732C>T	12.37:g.39124151G>A							p.F244F	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			11	816	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	244			C2 2.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.732C>T	CCDS8733.1																																																																																				PASS	0.279	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		15	14	15	14	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40012821	40012821	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:40012821C>T	ENST00000308666.3	-	1	732	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	199	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.M199I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCCTCCCATCCATATTGATCA	0.418																																						uc001rmb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(595-597)ATG>ATA		ATP-binding cassette, sub-family D, member 2							108.0	104.0	105.0					12																	40012821		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012821C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.597G>A	12.37:g.40012821C>T	ENSP00000310688:p.Met199Ile						p.M199I	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	1023	-			199			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.597G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084092	0.76642	.	.	ENSG00000173208	ENST00000308666	D	0.91631	-2.88	5.07	5.07	0.68467	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	L	0.50333	1.59	0.58432	D	0.999998	P	0.42871	0.792	P	0.47251	0.542	D	0.91033	0.4865	9	.	.	.	-20.8184	18.4694	0.90767	0.0:1.0:0.0:0.0	.	199	Q9UBJ2	ABCD2_HUMAN	I	199	ENSP00000310688:M199I	.	M	-	3	0	ABCD2	38299088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.315000	0.78998	2.352000	0.79861	0.557000	0.71058	ATG		PASS	0.418	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		8	60	8	60	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40012996	40012996	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:40012996C>T	ENST00000308666.3	-	1	557	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	141	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R141Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GATGAAAGTCCGAGGCTTCTT	0.438																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(421-423)CGG>CAG		ATP-binding cassette, sub-family D, member 2							95.0	93.0	94.0					12																	40012996		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012996C>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.422G>A	12.37:g.40012996C>T	ENSP00000310688:p.Arg141Gln						p.R141Q	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			1	848	-			141			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.422G>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283779	0.40394	.	.	ENSG00000173208	ENST00000308666	D	0.99680	-6.38	4.58	4.58	0.56647	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.379593	0.26757	N	0.022643	D	0.98943	0.9641	M	0.69523	2.12	0.36273	D	0.855261	B	0.18013	0.025	B	0.19391	0.025	D	0.99986	1.3218	9	.	.	.	-5.7135	13.3596	0.60648	0.0:0.842:0.158:0.0	.	141	Q9UBJ2	ABCD2_HUMAN	Q	141	ENSP00000310688:R141Q	.	R	-	2	0	ABCD2	38299263	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	4.245000	0.58734	2.378000	0.81104	0.563000	0.77884	CGG		PASS	0.438	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		14	24	14	24	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40154015	40154015	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:40154015A>T	ENST00000280871.4	-	10	1810	c.1760T>A	c.(1759-1761)cTc>cAc	p.L587H		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	587					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.L568H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATGAAAAGGAGTCCCACAGC	0.393										HNSCC(50;0.14)																												uc010skm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1759-1761)CTC>CAC		solute carrier family 2 (facilitated glucose							53.0	50.0	51.0					12																	40154015		2203	4299	6502	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40154015A>T	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1760T>A	12.37:g.40154015A>T	ENSP00000280871:p.Leu587His	HNSCC(50;0.14)				C12orf40_uc009zjv.1_Intron	p.L587H	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			10	1811	-		Lung NSC(34;0.105)|all_lung(34;0.123)	587			Helical; Name=12; (Potential).		Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.1760T>A	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.325220	0.81580	.	.	ENSG00000151229	ENST00000280871	T	0.75367	-0.93	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.195779	0.44902	D	0.000406	D	0.87613	0.6221	M	0.89353	3.025	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.88783	0.3272	10	0.45353	T	0.12	-8.7982	15.5428	0.76070	1.0:0.0:0.0:0.0	.	587	Q96QE2	MYCT_HUMAN	H	587	ENSP00000280871:L587H	ENSP00000280871:L587H	L	-	2	0	SLC2A13	38440282	1.000000	0.71417	0.910000	0.35882	0.854000	0.48673	8.614000	0.90917	2.075000	0.62263	0.533000	0.62120	CTC		PASS	0.393	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			13	17	13	17	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41337879	41337879	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:41337879T>C	ENST00000551295.2	+	14	1707	c.1590T>C	c.(1588-1590)ttT>ttC	p.F530F	CNTN1_ENST00000360099.3_Silent_p.F530F|CNTN1_ENST00000348761.2_Silent_p.F519F|CNTN1_ENST00000547702.1_Silent_p.F530F|CNTN1_ENST00000547849.1_Silent_p.F530F|CNTN1_ENST00000347616.1_Silent_p.F530F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	530	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.F530F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGCGTCCTTTGATCCTGCCT	0.393																																						uc001rmm.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1588-1590)TTT>TTC		contactin 1 isoform 1 precursor							157.0	126.0	136.0					12																	41337879		2203	4299	6502	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337879T>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1590T>C	12.37:g.41337879T>C						CNTN1_uc009zjy.1_Silent_p.F530F|CNTN1_uc001rmn.1_Silent_p.F519F|CNTN1_uc001rmo.2_Silent_p.F530F	p.F530F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			14	1703	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	530			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.1590T>C	CCDS8737.1																																																																																				PASS	0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		13	32	13	32	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41414201	41414201	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:41414201C>T	ENST00000551295.2	+	20	2599	c.2482C>T	c.(2482-2484)Cat>Tat	p.H828Y	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.H817Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.H828Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	828	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.H828Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GATATCTGTTCATTGGGAACA	0.294																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2482-2484)CAT>TAT		contactin 1 isoform 1 precursor							53.0	57.0	55.0					12																	41414201		2203	4292	6495	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41414201C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2482C>T	12.37:g.41414201C>T	ENSP00000447006:p.His828Tyr					CNTN1_uc001rmn.1_Missense_Mutation_p.H817Y	p.H828Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			20	2595	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	828			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2482C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	3.916	-0.019046	0.07634	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.57436	0.4;0.4;0.4	5.75	3.58	0.41010	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.366663	0.30639	N	0.009186	T	0.29190	0.0726	N	0.20986	0.625	0.80722	D	1	B;B	0.15930	0.012;0.015	B;B	0.18263	0.009;0.021	T	0.09228	-1.0684	10	0.09843	T	0.71	.	3.1624	0.06524	0.0:0.4877:0.2254:0.2869	.	817;828	Q12860-2;Q12860	.;CNTN1_HUMAN	Y	828;828;817	ENSP00000447006:H828Y;ENSP00000325660:H828Y;ENSP00000261160:H817Y	ENSP00000325660:H828Y	H	+	1	0	CNTN1	39700468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.154000	0.42291	1.583000	0.49898	-0.140000	0.14226	CAT		PASS	0.294	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		5	30	5	30	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41418956	41418956	+	Missense_Mutation	SNP	G	G	C	rs547467864		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:41418956G>C	ENST00000551295.2	+	21	2645	c.2528G>C	c.(2527-2529)cGg>cCg	p.R843P	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.R832P|CNTN1_ENST00000347616.1_Missense_Mutation_p.R843P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	843	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R843P(1)|p.R843Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGCAGATTCGGTATTGGGCT	0.458																																						uc001rmm.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2527-2529)CGG>CCG		contactin 1 isoform 1 precursor							90.0	102.0	98.0					12																	41418956		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41418956G>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2528G>C	12.37:g.41418956G>C	ENSP00000447006:p.Arg843Pro					CNTN1_uc001rmn.1_Missense_Mutation_p.R832P	p.R843P	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			21	2641	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	843			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2528G>C	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812446	0.70912	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58652	0.32;0.32;0.32	4.78	4.78	0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.064020	0.64402	D	0.000010	T	0.78660	0.4318	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.81068	-0.1100	10	0.54805	T	0.06	.	18.6979	0.91610	0.0:0.0:1.0:0.0	.	832;843	Q12860-2;Q12860	.;CNTN1_HUMAN	P	843;843;832	ENSP00000447006:R843P;ENSP00000325660:R843P;ENSP00000261160:R832P	ENSP00000325660:R843P	R	+	2	0	CNTN1	39705223	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.274000	0.72587	2.574000	0.86865	0.655000	0.94253	CGG		PASS	0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		65	68	65	68	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966734	41966734	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:41966734G>A	ENST00000402685.2	+	10	2161	c.2153G>A	c.(2152-2154)aGg>aAg	p.R718K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R460K|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R458K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	718							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R718K(1)|p.R460K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATATGCAAAGGGGAAAGCTA	0.473																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1555-1557)AGG>AAG		PDZ domain containing RING finger 4 isoform 2							111.0	115.0	113.0					12																	41966734		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966734G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2153G>A	12.37:g.41966734G>A	ENSP00000384197:p.Arg718Lys					PDZRN4_uc001rmq.3_Missense_Mutation_p.R460K|PDZRN4_uc009zjz.2_Missense_Mutation_p.R458K|PDZRN4_uc001rmr.2_Missense_Mutation_p.R345K	p.R519K	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1624	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	718					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1556G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	5.407	0.260338	0.10239	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.71461	-0.57;3.91;3.9	4.64	4.64	0.57946	.	0.231124	0.37136	N	0.002224	T	0.67636	0.2914	M	0.74647	2.275	0.26172	N	0.979849	B;B;B	0.20671	0.047;0.003;0.003	B;B;B	0.17979	0.014;0.02;0.013	T	0.55237	-0.8172	10	0.13853	T	0.58	-27.0127	14.0859	0.64957	0.0:0.1511:0.8489:0.0	.	718;458;460	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	718;460;458	ENSP00000384197:R718K;ENSP00000439990:R460K;ENSP00000298919:R458K	ENSP00000298919:R458K	R	+	2	0	PDZRN4	40253001	1.000000	0.71417	0.009000	0.14445	0.397000	0.30659	6.144000	0.71762	2.533000	0.85409	0.650000	0.86243	AGG		PASS	0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		16	87	16	87	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42854137	42854137	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:42854137C>T	ENST00000455697.1	-	8	2255	c.1970G>A	c.(1969-1971)cGg>cAg	p.R657Q	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R657Q|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R657Q|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R657Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R657Q	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	657	Arg/His-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R657Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GACGCGTCTCCGAGTCCTTTC	0.507																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1969-1971)CGG>CAG		prickle homolog 1							54.0	55.0	55.0					12																	42854137		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42854137C>T	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1970G>A	12.37:g.42854137C>T	ENSP00000401060:p.Arg657Gln					PRICKLE1_uc001rnl.2_Missense_Mutation_p.R657Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R657Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R657Q|PRICKLE1_uc001rnk.1_5'Flank	p.R657Q	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2257	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		657			Arg/His-rich.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.1970G>A	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880308	0.51801	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.63428	1.95	0.54753	D	0.999984	P	0.37525	0.598	B	0.21151	0.033	T	0.82804	-0.0276	10	0.46703	T	0.11	-11.1114	19.552	0.95324	0.0:1.0:0.0:0.0	.	657	Q96MT3	PRIC1_HUMAN	Q	657	ENSP00000401060:R657Q;ENSP00000398947:R657Q;ENSP00000448359:R657Q;ENSP00000345064:R657Q;ENSP00000449819:R657Q	ENSP00000345064:R657Q	R	-	2	0	PRICKLE1	41140404	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	3.437000	0.52863	2.698000	0.92095	0.650000	0.86243	CGG		PASS	0.507	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			8	34	8	34	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43847772	43847772	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:43847772A>G	ENST00000389420.3	-	12	1697	c.1698T>C	c.(1696-1698)agT>agC	p.S566S	ADAMTS20_ENST00000553158.1_Silent_p.S566S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	566	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S566S(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGAACAAGAACTGTAAGGTT	0.403																																						uc010skx.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1696-1698)AGT>AGC		a disintegrin-like and metalloprotease with							115.0	92.0	100.0					12																	43847772		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847772A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1698T>C	12.37:g.43847772A>G							p.S566S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1698	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	566			TSP type-1 1.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1698T>C	CCDS31778.2																																																																																				PASS	0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		7	12	7	12	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43858458	43858458	+	Missense_Mutation	SNP	C	C	T	rs191978295		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:43858458C>T	ENST00000389420.3	-	10	1444	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R482Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	482	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R482Q(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCATCATATCGTGATCCAGG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17547	0.0		0.001	False		,,,				2504	0.0					uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1444-1446)CGA>CAA		a disintegrin-like and metalloprotease with							113.0	105.0	108.0					12																	43858458		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858458C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1445G>A	12.37:g.43858458C>T	ENSP00000374071:p.Arg482Gln						p.R482Q	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1445	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	482			Disintegrin.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1445G>A	CCDS31778.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.284	-0.984389	0.02180	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.03524	3.9;3.9	4.75	-0.358	0.12575	Metallopeptidase, catalytic domain (1);	0.717413	0.12220	N	0.488427	T	0.02047	0.0064	N	0.13299	0.325	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44862	-0.9300	10	0.42905	T	0.14	.	2.5649	0.04781	0.6149:0.1289:0.1363:0.1199	.	482	P59510	ATS20_HUMAN	Q	482	ENSP00000374071:R482Q;ENSP00000448341:R482Q	ENSP00000374068:R482Q	R	-	2	0	ADAMTS20	42144725	0.005000	0.15991	0.002000	0.10522	0.053000	0.15095	2.408000	0.44574	-0.147000	0.11254	-1.482000	0.00985	CGA		PASS	0.383	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		12	59	12	59	---	---	---	---
DBX2	440097	broad.mit.edu	37	12	45429899	45429899	+	Splice_Site	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:45429899T>G	ENST00000332700.6	-	2	575		c.e2-2			NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.?(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		tggaaggtgctgcagagaaag	0.453																																						uc001rok.1																			1	Unknown(1)		lung(1)		0						c.e2-1		developing brain homeobox 2							77.0	83.0	81.0					12																	45429899		2203	4300	6503	SO:0001630	splice_region_variant	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429899T>G		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.404-2A>C	12.37:g.45429899T>G							p.A135_splice	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	576	-	Lung SC(27;0.192)	Lung NSC(34;0.142)							Splice_Site	SNP	ENST00000332700.6	37	c.404_splice	CCDS31781.1																																																																																				PASS	0.453	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329	Intron	7	4	7	4	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46211527	46211527	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:46211527C>T	ENST00000334344.6	+	5	665	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ARID2_ENST00000422737.1_Silent_p.L16L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	165					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.L165L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTGCTTTCACTGTTATCTGG	0.358			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(493-495)CTG>TTG		AT rich interactive domain 2 (ARID, RFX-like)							91.0	86.0	88.0					12																	46211527		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46211527C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.493C>T	12.37:g.46211527C>T						ARID2_uc001ror.2_Silent_p.L165L	p.L165L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	5	493	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	165					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.493C>T	CCDS31783.1																																																																																				PASS	0.358	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		20	13	20	13	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46245535	46245535	+	Missense_Mutation	SNP	T	T	C	rs569971226	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:46245535T>C	ENST00000334344.6	+	15	3801	c.3629T>C	c.(3628-3630)gTt>gCt	p.V1210A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.V1061A|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.V820A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1210					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.V1210A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGACAGGAGTTGGACTTCCA	0.473			"""N, S, F"""		hepatocellular carcinoma								T|||	4	0.000798722	0.0	0.0	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.0041					uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3628-3630)GTT>GCT		AT rich interactive domain 2 (ARID, RFX-like)							65.0	59.0	61.0					12																	46245535		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245535T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3629T>C	12.37:g.46245535T>C	ENSP00000335044:p.Val1210Ala					ARID2_uc001ror.2_Missense_Mutation_p.V1210A|ARID2_uc009zkg.1_Missense_Mutation_p.V666A|ARID2_uc009zkh.1_Missense_Mutation_p.V837A|ARID2_uc001rou.1_Missense_Mutation_p.V544A	p.V1210A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3629	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1210					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3629T>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	1.952	-0.441014	0.04636	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.29397	1.57	6.17	5.04	0.67666	.	0.181750	0.48286	N	0.000187	T	0.18341	0.0440	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.05022	-1.0911	10	0.25751	T	0.34	-6.3262	11.5788	0.50879	0.0:0.0698:0.0:0.9302	.	1210;820;1210	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1210;327;327;1061;820	ENSP00000335044:V1210A	ENSP00000335044:V1210A	V	+	2	0	ARID2	44531802	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	4.003000	0.57061	1.168000	0.42723	0.533000	0.62120	GTT		PASS	0.473	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		15	11	15	11	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46246497	46246497	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:46246497C>T	ENST00000334344.6	+	15	4763	c.4591C>T	c.(4591-4593)Cca>Tca	p.P1531S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P1382S|ARID2_ENST00000457135.1_Missense_Mutation_p.P139S|ARID2_ENST00000444670.1_Missense_Mutation_p.P1141S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1531					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.P1531S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CGCAGGAATTCCAAATAAAGT	0.478			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(4591-4593)CCA>TCA		AT rich interactive domain 2 (ARID, RFX-like)							76.0	73.0	74.0					12																	46246497		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246497C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4591C>T	12.37:g.46246497C>T	ENSP00000335044:p.Pro1531Ser					ARID2_uc001ror.2_Missense_Mutation_p.P1531S|ARID2_uc009zkg.1_Missense_Mutation_p.P987S|ARID2_uc009zkh.1_Missense_Mutation_p.P1158S|ARID2_uc001rou.1_Missense_Mutation_p.P865S	p.P1531S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4591	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1531					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4591C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525904	0.64860	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T;T	0.58210	0.35;1.56	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.65784	-0.6084	10	0.62326	D	0.03	-11.5753	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1531;1141;1531	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	S	1531;648;648;1382;1141;139	ENSP00000335044:P1531S;ENSP00000388357:P139S	ENSP00000335044:P1531S	P	+	1	0	ARID2	44532764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.478	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	51	7	51	---	---	---	---
H1FNT	341567	broad.mit.edu	37	12	48723693	48723693	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:48723693G>A	ENST00000335017.1	+	1	931	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	207					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E207K(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						AGCCAAGGAGGAAGCGGGAGC	0.672																																						uc001rrm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(619-621)GAA>AAA		H1 histone family, member N, testis-specific							54.0	55.0	54.0					12																	48723693		2183	4295	6478	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723693G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.619G>A	12.37:g.48723693G>A	ENSP00000334805:p.Glu207Lys						p.E207K	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	931	+			207					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.619G>A	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542161	0.65198	.	.	ENSG00000187166	ENST00000335017	T	0.18338	2.22	4.73	1.66	0.24008	.	1.607000	0.04645	N	0.405995	T	0.15998	0.0385	L	0.43152	1.355	0.09310	N	1	P	0.34462	0.454	B	0.27500	0.08	T	0.33007	-0.9885	10	0.66056	D	0.02	.	8.6418	0.33981	0.0901:0.2877:0.6222:0.0	.	207	Q75WM6	H1FNT_HUMAN	K	207	ENSP00000334805:E207K	ENSP00000334805:E207K	E	+	1	0	H1FNT	47009960	0.327000	0.24678	0.000000	0.03702	0.092000	0.18411	1.559000	0.36320	0.467000	0.27218	0.655000	0.94253	GAA		PASS	0.672	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		7	7	7	7	---	---	---	---
OR8S1	341568	broad.mit.edu	37	12	48919789	48919789	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:48919789C>T	ENST00000310194.1	+	1	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCCATGCTGCCATCTGCCGCC	0.542																																						uc010slu.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(373-375)GCC>GCT		olfactory receptor, family 8, subfamily S,							131.0	119.0	123.0					12																	48919789		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919789C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.375C>T	12.37:g.48919789C>T							p.A125A	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	375	+			125			Cytoplasmic (Potential).			Silent	SNP	ENST00000310194.1	37	c.375C>T	CCDS31789.1																																																																																				PASS	0.542	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			25	28	25	28	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49166093	49166093	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:49166093G>A	ENST00000307885.4	-	17	3466	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	ADCY6_ENST00000357869.3_Silent_p.F871F|ADCY6_ENST00000550422.1_Silent_p.F871F|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.F924F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTTCCAGAGGAAGTCTAGGC	0.582																																						uc001rsh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2770-2772)TTC>TTT		adenylate cyclase 6 isoform a							60.0	61.0	61.0					12																	49166093		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49166093G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2772C>T	12.37:g.49166093G>A						ADCY6_uc001rsj.3_Silent_p.F924F|ADCY6_uc001rsi.3_Silent_p.F871F|ADCY6_uc010slw.1_Silent_p.F155F	p.F924F	NM_015270	NP_056085	O43306	ADCY6_HUMAN			17	3432	-			924			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.2772C>T	CCDS8767.1																																																																																				PASS	0.582	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		23	21	23	21	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49230001	49230001	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:49230001G>A	ENST00000308025.3	-	11	1364	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	429	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R429C(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATGATGTCACGATTCTGTAGC	0.512																																						uc001rsm.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1285-1287)CGT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							193.0	180.0	184.0					12																	49230001		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230001G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1285C>T	12.37:g.49230001G>A	ENSP00000310723:p.Arg429Cys						p.R429C	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			11	1376	-			429			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1285C>T	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781079	0.90282	.	.	ENSG00000174243	ENST00000308025	T	0.16743	2.32	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.54132	-0.8339	10	0.87932	D	0	-6.2611	18.1267	0.89587	0.0:0.0:1.0:0.0	.	429	Q9BUQ8	DDX23_HUMAN	C	429	ENSP00000310723:R429C	ENSP00000310723:R429C	R	-	1	0	DDX23	47516268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.441000	0.73439	2.571000	0.86741	0.561000	0.74099	CGT		PASS	0.512	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		15	83	15	83	---	---	---	---
CCDC65	85478	broad.mit.edu	37	12	49308340	49308340	+	Missense_Mutation	SNP	G	G	A	rs145334864		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:49308340G>A	ENST00000320516.4	+	3	642	c.454G>A	c.(454-456)Gag>Aag	p.E152K	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.E152K	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	152								p.E152K(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CCTAACCAAGGAGTTTGAGAC	0.542																																						uc001rso.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(454-456)GAG>AAG		coiled-coil domain containing 65		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	51.0	46.0	48.0		454	4.8	1.0	12	dbSNP_134	48	0,8600		0,0,4300	no	missense	CCDC65	NM_033124.4	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	152/485	49308340	1,13005	2203	4300	6503	SO:0001583	missense	85478							g.chr12:49308340G>A		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.454G>A	12.37:g.49308340G>A	ENSP00000312706:p.Glu152Lys						p.E152K	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			3	681	+			152			Potential.		A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.454G>A	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948400	0.92593	2.27E-4	0.0	ENSG00000139537	ENST00000266984;ENST00000320516	T;T	0.02498	4.27;4.27	4.78	4.78	0.61160	.	0.254352	0.36815	N	0.002399	T	0.12860	0.0312	M	0.81341	2.54	0.48901	D	0.999729	D	0.63046	0.992	P	0.59357	0.856	T	0.10042	-1.0647	10	0.23891	T	0.37	-6.7221	17.103	0.86654	0.0:0.0:1.0:0.0	.	152	Q8IXS2	CCD65_HUMAN	K	152	ENSP00000266984:E152K;ENSP00000312706:E152K	ENSP00000266984:E152K	E	+	1	0	CCDC65	47594607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.668000	0.74457	2.641000	0.89580	0.591000	0.81541	GAG		PASS	0.542	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		21	23	21	23	---	---	---	---
TUBA1C	84790	broad.mit.edu	37	12	49666170	49666170	+	Silent	SNP	C	C	A	rs113331886	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:49666170C>A	ENST00000301072.6	+	4	785	c.510C>A	c.(508-510)tcC>tcA	p.S170S	TUBA1C_ENST00000541364.1_Silent_p.S240S|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	170					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S170S(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TGGAGTTCTCCATTTACCCGG	0.542																																						uc001rts.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)TCC>TCA		tubulin alpha 6							67.0	68.0	68.0					12																	49666170		2203	4300	6503	SO:0001819	synonymous_variant	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666170C>A	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.510C>A	12.37:g.49666170C>A						TUBA1C_uc010smh.1_Silent_p.S240S|TUBA1C_uc001rtt.1_Silent_p.S170S|uc010smi.1_Nonsense_Mutation_p.G140*	p.S135S	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN			5	863	+			170						Silent	SNP	ENST00000301072.6	37	c.405C>A	CCDS8782.1																																																																																				PASS	0.542	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		6	22	6	22	---	---	---	---
FAM186B	84070	broad.mit.edu	37	12	49994501	49994501	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:49994501G>A	ENST00000257894.2	-	4	1083	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.L218F	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	308						protein complex (GO:0043234)		p.L308F(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCATCAGGAGAAGGTCATGG	0.552																																						uc001ruo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(922-924)CTC>TTC		hypothetical protein LOC84070							152.0	142.0	145.0					12																	49994501		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994501G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.922C>T	12.37:g.49994501G>A	ENSP00000257894:p.Leu308Phe					FAM186B_uc010smk.1_Missense_Mutation_p.L218F	p.L308F	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			4	1095	-			308			Potential.		B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.922C>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701084	0.68501	.	.	ENSG00000135436	ENST00000544141;ENST00000257894	T;T	0.22336	1.96;2.19	5.36	3.5	0.40072	.	0.583763	0.14454	N	0.318597	T	0.38453	0.1041	M	0.64997	1.995	0.18873	N	0.999985	D;D	0.76494	0.999;0.999	D;D	0.70016	0.956;0.967	T	0.10405	-1.0631	9	.	.	.	-6.4043	7.2488	0.26138	0.0913:0.1721:0.7365:0.0	.	218;308	B4DZ15;Q8IYM0	.;F186B_HUMAN	F	218;308	ENSP00000438569:L218F;ENSP00000257894:L308F	.	L	-	1	0	FAM186B	48280768	0.417000	0.25432	0.562000	0.28370	0.268000	0.26511	1.679000	0.37597	0.738000	0.32606	0.655000	0.94253	CTC		PASS	0.552	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		86	82	86	82	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50187175	50187175	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:50187175C>T	ENST00000335999.6	-	10	3501	c.3300G>A	c.(3298-3300)gaG>gaA	p.E1100E		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1096	Pro-rich.							p.E691E(1)|p.E1100E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCAGGCTGTCCTCCGAGGGCA	0.662																																						uc009zlk.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(3298-3300)GAG>GAA		NCK-associated protein 5-like							47.0	59.0	55.0					12																	50187175		2143	4246	6389	SO:0001819	synonymous_variant	57701							g.chr12:50187175C>T	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3300G>A	12.37:g.50187175C>T						NCKAP5L_uc001rvc.3_Silent_p.E304E|NCKAP5L_uc001rvb.2_Silent_p.E693E	p.E1100E	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			10	3502	-			1096			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.3300G>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049659	0.19827	.	.	ENSG00000167566	ENST00000433948	.	.	.	4.29	1.38	0.22167	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-14.5081	3.972	0.09457	0.0:0.5178:0.1773:0.3049	.	.	.	.	R	815	.	.	G	-	1	0	NCKAP5L	48473442	0.984000	0.35163	0.983000	0.44433	0.987000	0.75469	0.081000	0.14823	0.173000	0.19788	0.655000	0.94253	GGA		PASS	0.662	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		13	14	13	14	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50191039	50191040	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:50191039_50191040GG>AA	ENST00000335999.6	-	8	804_805	c.603_604CC>TT	c.(601-606)gaCCcc>gaTTcc	p.P202S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	198	Pro-rich.							p.P202S(2)|p.D201D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGAAGCAAGGGGTCAGTCTCTT	0.693																																						uc009zlk.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(1)	1						c.(604-606)CCC>TCC|c.(601-603)GAC>GAT		NCK-associated protein 5-like																																				SO:0001583	missense	57701							g.chr12:50191039G>A|g.chr12:50191040G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.603_604delinsAA	12.37:g.50191039_50191040delinsAA	ENSP00000337998:p.Pro202Ser					NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	p.P202S|p.D201D	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	806|805	-			198|197			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation|Silent	SNP	ENST00000335999.6	37	c.604C>T|c.603C>T	CCDS41781.2																																																																																				PASS	0.693	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		8|9	13|14	8	13	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51069214	51069214	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:51069214C>T	ENST00000301180.5	+	7	933	c.899C>T	c.(898-900)tCt>tTt	p.S300F		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	300						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S300F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTGGATGACTCTGAAGAAATT	0.353																																						uc001rwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(898-900)TCT>TTT		DIP2 disco-interacting protein 2 homolog B							72.0	73.0	73.0					12																	51069214		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51069214C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.899C>T	12.37:g.51069214C>T	ENSP00000301180:p.Ser300Phe					DIP2B_uc001rwu.2_Missense_Mutation_p.S300F|DIP2B_uc009zls.1_Missense_Mutation_p.S182F	p.S300F	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			7	1055	+			300					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.899C>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386685	0.42308	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.41065	1.01	5.03	5.03	0.67393	.	0.106792	0.64402	D	0.000001	T	0.17619	0.0423	N	0.02225	-0.63	0.46798	D	0.999209	B;B	0.13145	0.0;0.007	B;B	0.11329	0.0;0.006	T	0.07158	-1.0787	10	0.66056	D	0.02	-17.0726	5.9946	0.19487	0.0:0.7782:0.0:0.2218	.	300;310	Q9P265;E9PHD6	DIP2B_HUMAN;.	F	310;300	ENSP00000301180:S300F	ENSP00000301180:S300F	S	+	2	0	DIP2B	49355481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.607000	0.46300	2.605000	0.88082	0.563000	0.77884	TCT		PASS	0.353	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		8	34	8	34	---	---	---	---
ACVR1B	91	broad.mit.edu	37	12	52377884	52377884	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:52377884A>T	ENST00000257963.4	+	5	990	c.913A>T	c.(913-915)Att>Ttt	p.I305F	ACVR1B_ENST00000426655.2_Missense_Mutation_p.I305F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.I253F|ACVR1B_ENST00000415850.2_Missense_Mutation_p.I305F|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.I346F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|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-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.I346F(1)|p.I305F(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGGGATGATTAAGCTGGC	0.547																																						uc001rzn.2																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(913-915)ATT>TTT		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						115.0	90.0	99.0					12																	52377884		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52377884A>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.913A>T	12.37:g.52377884A>T	ENSP00000257963:p.Ile305Phe					ACVR1B_uc001rzl.2_Missense_Mutation_p.I305F|ACVR1B_uc001rzm.2_Missense_Mutation_p.I305F|ACVR1B_uc010snn.1_Missense_Mutation_p.I346F	p.I305F	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	5	955	+			305			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.913A>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903521	0.52333	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	N	0.20807	0.61	0.80722	D	1	B;D;B;B	0.58620	0.2;0.983;0.088;0.363	B;D;B;B	0.65987	0.061;0.94;0.117;0.198	T	0.71507	-0.4572	10	0.72032	D	0.01	.	15.5141	0.75809	1.0:0.0:0.0:0.0	.	346;305;305;305	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	F	305;346;305;305;253	ENSP00000257963:I305F;ENSP00000442656:I346F;ENSP00000390477:I305F;ENSP00000397550:I305F;ENSP00000442885:I253F	ENSP00000257963:I305F	I	+	1	0	ACVR1B	50664151	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	3.645000	0.54389	2.136000	0.66102	0.533000	0.62120	ATT		PASS	0.547	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		4	14	4	14	---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52713029	52713030	+	Missense_Mutation	DNP	CC	CC	TT	rs561722742	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:52713029_52713030CC>TT	ENST00000293670.3	-	2	565_566	c.503_504GG>AA	c.(502-504)cGG>cAA	p.R168Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	168	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R168Q(2)|p.R168R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCCTCCCGCCGCAGAGTCTC	0.599																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(502-504)CGG>CGA|c.(502-504)CGG>CAG		keratin 83																																				SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52713029C>T|g.chr12:52713030C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.503_504delinsTT	12.37:g.52713029_52713030delinsTT	ENSP00000293670:p.Arg168Gln						p.R168R|p.R168Q	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	567|566	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		168			Rod.|Coil 1B.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent|Missense_Mutation	SNP	ENST00000293670.3	37	c.504G>A|c.503G>A	CCDS8823.1																																																																																				PASS	0.599	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		8	32	8	32	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52913697	52913697	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:52913697A>G	ENST00000252242.4	-	1	774	c.384T>C	c.(382-384)ggT>ggC	p.G128G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	128	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.G128G(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCAGGGCCACCGAAGccac	0.607																																						uc001san.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)GGT>GGC		keratin 5							143.0	140.0	141.0					12																	52913697		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913697A>G		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.384T>C	12.37:g.52913697A>G						KRT5_uc009zmh.2_Silent_p.G128G	p.G128G	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	547	-			128			Head.|Gly-rich.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.384T>C	CCDS8830.1																																																																																				PASS	0.607	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			6	26	6	26	---	---	---	---
KRT71	112802	broad.mit.edu	37	12	52942523	52942523	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:52942523C>T	ENST00000267119.5	-	4	844	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	259	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D259N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ATCTCCTGGTCCATGGATTCC	0.527																																						uc001sao.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(775-777)GAC>AAC		keratin 71							198.0	162.0	174.0					12																	52942523		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52942523C>T	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.775G>A	12.37:g.52942523C>T	ENSP00000267119:p.Asp259Asn						p.D259N	NM_033448	NP_258259	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	4	845	-			259			Coil 1B.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.775G>A	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322974	0.23994	.	.	ENSG00000139648	ENST00000267119	T	0.76316	-1.01	4.45	1.55	0.23275	Filament (1);	0.152904	0.29260	N	0.012666	T	0.55673	0.1935	N	0.04686	-0.185	0.29756	N	0.835914	B	0.14805	0.011	B	0.21151	0.033	T	0.50701	-0.8797	10	0.40728	T	0.16	.	9.9052	0.41372	0.0:0.7591:0.0:0.2409	.	259	Q3SY84	K2C71_HUMAN	N	259	ENSP00000267119:D259N	ENSP00000267119:D259N	D	-	1	0	KRT71	51228790	0.000000	0.05858	0.968000	0.41197	0.704000	0.40688	-1.550000	0.02180	0.201000	0.20466	-0.137000	0.14449	GAC		PASS	0.527	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		9	41	9	41	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53008396	53008396	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53008396T>A	ENST00000305748.3	-	4	820	c.786A>T	c.(784-786)ggA>ggT	p.G262G	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	262	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G262G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTTGATTTCTCCATCCAGGG	0.532																																						uc001sas.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(784-786)GGA>GGT		keratin 73							137.0	114.0	122.0					12																	53008396		2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53008396T>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.786A>T	12.37:g.53008396T>A							p.G262G	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	821	-			262			Coil 1B.|Rod.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.786A>T	CCDS8834.1																																																																																				PASS	0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		5	22	5	22	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53008398	53008398	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53008398C>T	ENST00000305748.3	-	4	818	c.784G>A	c.(784-786)Gga>Aga	p.G262R	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	262	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G262R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGATTTCTCCATCCAGGGCA	0.532																																						uc001sas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(784-786)GGA>AGA		keratin 73							138.0	115.0	122.0					12																	53008398		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53008398C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.784G>A	12.37:g.53008398C>T	ENSP00000307014:p.Gly262Arg						p.G262R	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	819	-			262			Coil 1B.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.784G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669941	0.29693	.	.	ENSG00000186049	ENST00000305748	D	0.88586	-2.4	4.99	-1.07	0.09968	Filament (1);	0.721842	0.12236	N	0.486949	T	0.81621	0.4861	L	0.41492	1.28	0.20403	N	0.999901	B	0.06786	0.001	B	0.10450	0.005	T	0.69371	-0.5163	10	0.62326	D	0.03	.	6.6903	0.23167	0.0:0.2422:0.2681:0.4897	.	262	Q86Y46	K2C73_HUMAN	R	262	ENSP00000307014:G262R	ENSP00000307014:G262R	G	-	1	0	KRT73	51294665	0.000000	0.05858	0.045000	0.18777	0.836000	0.47400	-0.171000	0.09883	-0.303000	0.08856	-0.300000	0.09419	GGA		PASS	0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		5	23	5	23	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53170489	53170489	+	Missense_Mutation	SNP	G	G	A	rs138159446		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53170489G>A	ENST00000332411.2	-	1	640	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	196	Coil 1A.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S196F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTCGATGAAGGAGGCAAACTT	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17436	0.0		0.0	False		,,,				2504	0.0					uc001sax.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(586-588)TCC>TTC		keratin 76		G	PHE/SER	0,4406		0,0,2203	129.0	122.0	125.0		587	4.2	1.0	12	dbSNP_134	125	5,8595	4.3+/-15.6	0,5,4295	yes	missense	KRT76	NM_015848.4	155	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	196/639	53170489	5,13001	2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170489G>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.587C>T	12.37:g.53170489G>A	ENSP00000330101:p.Ser196Phe						p.S196F	NM_015848	NP_056932	Q01546	K22O_HUMAN			1	641	-			196			Coil 1A.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.587C>T	CCDS8838.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.78	3.696072	0.68386	0.0	5.81E-4	ENSG00000185069	ENST00000332411	D	0.91295	-2.82	4.2	4.2	0.49525	Filament (1);	0.000000	0.46145	D	0.000319	D	0.96414	0.8830	M	0.92219	3.285	0.45108	D	0.998128	D	0.89917	1.0	D	0.83275	0.996	D	0.97283	0.9919	10	0.87932	D	0	.	17.8452	0.88728	0.0:0.0:1.0:0.0	.	196	Q01546	K22O_HUMAN	F	196	ENSP00000330101:S196F	ENSP00000330101:S196F	S	-	2	0	KRT76	51456756	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.431000	0.66507	2.635000	0.89317	0.462000	0.41574	TCC		PASS	0.567	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		38	39	38	39	---	---	---	---
KRT4	3851	broad.mit.edu	37	12	53207610	53207610	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53207610C>T	ENST00000551956.1	-	1	725	c.233G>A	c.(232-234)gGa>gAa	p.G78E	KRT4_ENST00000458244.2_Missense_Mutation_p.G58E|KRT4_ENST00000293774.4_Missense_Mutation_p.G152E			P19013	K2C4_HUMAN	keratin 4	78	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G152E(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCAAAGCCTCCAGCACCCCC	0.607																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(454-456)GGA>GAA		keratin 4							83.0	99.0	93.0					12																	53207610		2072	4224	6296	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53207610C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.233G>A	12.37:g.53207610C>T	ENSP00000448220:p.Gly78Glu						p.G152E	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			1	726	-			78					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.455G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	7.938	0.742219	0.15642	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.95980	-1.76;0.64;-3.87	5.14	2.23	0.28157	.	0.302519	0.24037	N	0.042140	D	0.95322	0.8482	M	0.65975	2.015	0.28633	N	0.907573	.	.	.	.	.	.	D	0.91222	0.5007	8	0.56958	D	0.05	.	11.9063	0.52715	0.1271:0.5109:0.362:0.0	.	.	.	.	E	78;152;58	ENSP00000448220:G78E;ENSP00000293774:G152E;ENSP00000387904:G58E	ENSP00000293774:G152E	G	-	2	0	KRT4	51493877	0.109000	0.22037	0.021000	0.16686	0.100000	0.18952	1.370000	0.34238	0.369000	0.24510	0.585000	0.79938	GGA		PASS	0.607	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		27	41	27	41	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227802	53227802	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53227802C>T	ENST00000330553.5	-	1	277	c.243G>A	c.(241-243)ttG>ttA	p.L81L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	81	Head.		L -> S (in dbSNP:rs2638497). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.L81L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCCCGCCCCAACAAGGCCC	0.647																																						uc001sbb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(241-243)TTG>TTA		keratin 6L							23.0	30.0	28.0					12																	53227802		2202	4299	6501	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227802C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.243G>A	12.37:g.53227802C>T							p.L81L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	276	-			81			Head.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.243G>A	CCDS8839.1																																																																																				PASS	0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		18	10	18	10	---	---	---	---
KRT18	3875	broad.mit.edu	37	12	53345606	53345606	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53345606C>T	ENST00000388835.3	+	5	1124	c.914C>T	c.(913-915)tCc>tTc	p.S305F	KRT18_ENST00000388837.2_Missense_Mutation_p.S305F|KRT18_ENST00000550600.1_Missense_Mutation_p.S305F|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	305	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.S305F(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACAGTCCAGTCCTTGGAGATC	0.557																																						uc001sbe.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)TCC>TTC		keratin 18							64.0	63.0	63.0					12																	53345606		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345606C>T		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.914C>T	12.37:g.53345606C>T	ENSP00000373487:p.Ser305Phe					KRT18_uc009zmn.1_Missense_Mutation_p.S305F|KRT18_uc001sbf.1_Missense_Mutation_p.S132F|KRT18_uc001sbg.2_Missense_Mutation_p.S305F|KRT18_uc009zmo.2_Missense_Mutation_p.S305F|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.S305F	NM_199187	NP_954657	P05783	K1C18_HUMAN			6	983	+			305			Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.914C>T	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	c	17.53	3.411551	0.62399	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90069	-2.61;-2.61;-2.61	3.79	3.79	0.43588	Filament (1);	0.218403	0.30356	N	0.009808	D	0.89646	0.6775	M	0.80982	2.52	0.46954	D	0.999267	B;B	0.23650	0.089;0.032	B;B	0.30716	0.105;0.119	D	0.89814	0.3984	10	0.87932	D	0	.	13.9277	0.63972	0.0:1.0:0.0:0.0	.	305;305	F8VZY9;P05783	.;K1C18_HUMAN	F	305	ENSP00000373489:S305F;ENSP00000447278:S305F;ENSP00000373487:S305F	ENSP00000373487:S305F	S	+	2	0	KRT18	51631873	0.693000	0.27728	0.997000	0.53966	0.978000	0.69477	2.669000	0.46825	2.418000	0.82041	0.491000	0.48974	TCC		PASS	0.557	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		5	32	5	32	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53677227	53677227	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53677227G>A	ENST00000257934.4	+	16	3073	c.2982G>A	c.(2980-2982)ctG>ctA	p.L994L	ESPL1_ENST00000552462.1_Silent_p.L994L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	994					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L994L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAGAGAAGCTGGTCTGCCACC	0.512																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(2980-2982)CTG>CTA		separase							112.0	117.0	115.0					12																	53677227		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53677227G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2982G>A	12.37:g.53677227G>A						ESPL1_uc001scj.2_Silent_p.L669L|ESPL1_uc010soe.1_Silent_p.L205L	p.L994L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			16	3073	+			994						Silent	SNP	ENST00000257934.4	37	c.2982G>A	CCDS8852.1																																																																																				PASS	0.512	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		41	58	41	58	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53680087	53680087	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53680087G>T	ENST00000257934.4	+	18	3658	c.3567G>T	c.(3565-3567)aaG>aaT	p.K1189N	ESPL1_ENST00000552462.1_Missense_Mutation_p.K1189N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1189					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.K1189N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCGTGCTGAAGGGCTGTCCTG	0.597																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(3565-3567)AAG>AAT		separase							65.0	70.0	68.0					12																	53680087		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680087G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3567G>T	12.37:g.53680087G>T	ENSP00000257934:p.Lys1189Asn					ESPL1_uc001scj.2_Missense_Mutation_p.K864N|ESPL1_uc010soe.1_Intron	p.K1189N	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			18	3658	+			1189						Missense_Mutation	SNP	ENST00000257934.4	37	c.3567G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211098	0.39102	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12984	2.63;2.63	5.65	4.75	0.60458	.	0.403168	0.30437	N	0.009628	T	0.13157	0.0319	L	0.41824	1.3	0.30358	N	0.784116	B	0.17038	0.02	B	0.16289	0.015	T	0.04255	-1.0965	10	0.54805	T	0.06	.	12.5621	0.56288	0.0:0.166:0.834:0.0	.	1189	Q14674	ESPL1_HUMAN	N	1189;864;1189	ENSP00000257934:K1189N;ENSP00000449831:K1189N	ENSP00000257934:K1189N	K	+	3	2	ESPL1	51966354	0.968000	0.33430	1.000000	0.80357	0.911000	0.54048	0.801000	0.27055	1.610000	0.50200	0.655000	0.94253	AAG		PASS	0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		5	53	5	53	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53682974	53682974	+	Silent	SNP	C	C	T	rs145634647		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53682974C>T	ENST00000257934.4	+	21	4900	c.4809C>T	c.(4807-4809)ttC>ttT	p.F1603F	ESPL1_ENST00000552462.1_Silent_p.F1603F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1603					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.F1603F(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTGCCGCTTCCTGGCCTTGT	0.592																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			2	Substitution - coding silent(2)	p.F1603F(1)	lung(1)|skin(1)	lung(1)|kidney(1)|skin(1)	3						c.(4807-4809)TTC>TTT		separase							121.0	116.0	118.0					12																	53682974		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53682974C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4809C>T	12.37:g.53682974C>T						ESPL1_uc001scj.2_Silent_p.F1278F	p.F1603F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			21	4900	+			1603						Silent	SNP	ENST00000257934.4	37	c.4809C>T	CCDS8852.1																																																																																				PASS	0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		41	57	41	57	---	---	---	---
SP7	121340	broad.mit.edu	37	12	53722687	53722687	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53722687C>T	ENST00000536324.2	-	3	822	c.539G>A	c.(538-540)gGg>gAg	p.G180E	SP7_ENST00000537210.2_Missense_Mutation_p.G162E|SP7_ENST00000303846.3_Missense_Mutation_p.G180E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	180					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G180E(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGCAGTGTCCCTTGCAGCCC	0.622																																						uc001sct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GGG>GAG		osterix							33.0	39.0	37.0					12																	53722687		2062	4184	6246	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722687C>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.539G>A	12.37:g.53722687C>T	ENSP00000443827:p.Gly180Glu					SP7_uc001scu.2_Missense_Mutation_p.G162E|SP7_uc001scv.2_Missense_Mutation_p.G180E	p.G180E	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			2	646	-			180					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.539G>A	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	8.178	0.793141	0.16327	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.45276	3.39;3.39;3.4;0.9	3.47	2.56	0.30785	.	0.067824	0.56097	D	0.000030	T	0.37679	0.1012	L	0.27053	0.805	0.28374	N	0.919851	D	0.59357	0.985	P	0.55871	0.786	T	0.16600	-1.0397	10	0.72032	D	0.01	.	4.4592	0.11657	0.4039:0.4885:0.0:0.1076	.	180	Q8TDD2	SP7_HUMAN	E	180;180;162;162	ENSP00000443827:G180E;ENSP00000302812:G180E;ENSP00000441367:G162E;ENSP00000449355:G162E	ENSP00000302812:G180E	G	-	2	0	SP7	52008954	0.986000	0.35501	1.000000	0.80357	0.579000	0.36224	3.081000	0.50120	1.020000	0.39573	0.313000	0.20887	GGG		PASS	0.622	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			3	7	3	7	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53824998	53824998	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53824998G>T	ENST00000257863.4	+	11	1543	c.1463G>T	c.(1462-1464)tGg>tTg	p.W488L	AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Missense_Mutation_p.W393L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.W488L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GAAGACTGTTGGGATGCAGAC	0.592																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1462-1464)TGG>TTG		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						81.0	80.0	81.0					12																	53824998		2203	4300	6503	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53824998G>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1463G>T	12.37:g.53824998G>T	ENSP00000257863:p.Trp488Leu					AMHR2_uc009zmy.1_3'UTR	p.W488L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			11	1541	+			488			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1463G>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831669	0.91036	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	T;D	0.90955	0.45;-2.76	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35151	N	0.003418	D	0.93048	0.7787	L	0.43757	1.38	0.30646	N	0.755937	D	0.89917	1.0	D	0.87578	0.998	D	0.90900	0.4768	10	0.87932	D	0	.	15.3949	0.74784	0.0:0.0:1.0:0.0	.	488	Q16671	AMHR2_HUMAN	L	488;393	ENSP00000257863:W488L;ENSP00000369117:W393L	ENSP00000257863:W488L	W	+	2	0	AMHR2	52111265	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.206000	0.77891	2.691000	0.91804	0.563000	0.77884	TGG		PASS	0.592	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		4	61	4	61	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879205	53879205	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53879205C>T	ENST00000267079.2	-	6	1002	c.777G>A	c.(775-777)aaG>aaA	p.K259K	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Silent_p.K292K|MAP3K12_ENST00000547488.1_Silent_p.K292K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.K292K(1)|p.K259K(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CACTCAGCTCCTTGGAAGTGC	0.532																																						uc001sdm.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(775-777)AAG>AAA		mitogen-activated protein kinase kinase kinase							236.0	226.0	230.0					12																	53879205		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879205C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.777G>A	12.37:g.53879205C>T						MAP3K12_uc001sdn.1_Silent_p.K292K	p.K259K	NM_006301	NP_006292	Q12852	M3K12_HUMAN			6	875	-			259			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.777G>A	CCDS8860.1																																																																																				PASS	0.532	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		63	99	63	99	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879942	53879942	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:53879942G>A	ENST00000267079.2	-	5	845	c.620C>T	c.(619-621)cCt>cTt	p.P207L	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P240L|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P240L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.P207L(1)|p.P240L(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGGGTGACAGGGCGGCCAGC	0.607																																						uc001sdm.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(619-621)CCT>CTT		mitogen-activated protein kinase kinase kinase							94.0	87.0	89.0					12																	53879942		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879942G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.620C>T	12.37:g.53879942G>A	ENSP00000267079:p.Pro207Leu					MAP3K12_uc001sdn.1_Missense_Mutation_p.P240L	p.P207L	NM_006301	NP_006292	Q12852	M3K12_HUMAN			5	718	-			207			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.620C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724553	0.48833	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.82526	-1.62;-1.62;-1.62	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000378	T	0.74718	0.3753	L	0.31664	0.95	0.49798	D	0.999828	B;B	0.21688	0.059;0.035	B;B	0.25884	0.064;0.05	T	0.70831	-0.4765	10	0.46703	T	0.11	.	11.8761	0.52548	0.0:0.0:0.7216:0.2784	.	240;207	G3V1Y2;Q12852	.;M3K12_HUMAN	L	207;240;240	ENSP00000267079:P207L;ENSP00000449038:P240L;ENSP00000448689:P240L	ENSP00000267079:P207L	P	-	2	0	MAP3K12	52166209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.845000	0.62853	2.688000	0.91661	0.561000	0.74099	CCT		PASS	0.607	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		10	25	10	25	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54929930	54929930	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:54929930G>A	ENST00000293373.6	+	28	3053	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E942K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	992					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.E992K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCTCCTGAGGAGGAATATAA	0.453																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2974-2976)GAG>AAG		NCK-associated protein 1-like							154.0	130.0	138.0					12																	54929930		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54929930G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2974G>A	12.37:g.54929930G>A	ENSP00000293373:p.Glu992Lys					NCKAP1L_uc010sox.1_Missense_Mutation_p.E534K|NCKAP1L_uc010soy.1_Missense_Mutation_p.E942K	p.E992K	NM_005337	NP_005328	P55160	NCKPL_HUMAN			28	3053	+			992					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2974G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615326	0.87359	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.46819	0.86;0.86	4.31	4.31	0.51392	.	0.113973	0.56097	D	0.000027	T	0.65729	0.2719	M	0.73962	2.25	0.54753	D	0.999987	D	0.69078	0.997	D	0.77004	0.989	T	0.63028	-0.6728	10	0.24483	T	0.36	-4.5031	14.6721	0.68951	0.0:0.0:1.0:0.0	.	992	P55160	NCKPL_HUMAN	K	992;942	ENSP00000293373:E992K;ENSP00000445596:E942K	ENSP00000293373:E992K	E	+	1	0	NCKAP1L	53216197	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.791000	0.91849	2.407000	0.81776	0.655000	0.94253	GAG		PASS	0.453	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		19	17	19	17	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971076	54971076	+	Silent	SNP	C	C	G	rs150107941	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:54971076C>G	ENST00000243052.3	+	15	2011	c.1575C>G	c.(1573-1575)gcC>gcG	p.A525A	PDE1B_ENST00000550620.1_Silent_p.A505A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.A484A|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	525					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A525A(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CATCCCCTGCCGAAGATGAAC	0.567																																						uc001sgd.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1573-1575)GCC>GCG		phosphodiesterase 1B isoform 1							139.0	134.0	136.0					12																	54971076		2203	4300	6503	SO:0001819	synonymous_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971076C>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1575C>G	12.37:g.54971076C>G						PDE1B_uc010soz.1_Silent_p.A388A|PDE1B_uc010spa.1_Silent_p.A484A|PDE1B_uc001sgf.2_Silent_p.A388A|PDE1B_uc001sge.2_Silent_p.A505A|PDE1B_uc009znq.2_Silent_p.A321A	p.A525A	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			15	1741	+			525					Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	c.1575C>G	CCDS8882.1																																																																																				PASS	0.567	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			41	48	41	48	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55420286	55420286	+	Missense_Mutation	SNP	G	G	A	rs552404160		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55420286G>A	ENST00000242994.3	+	2	441	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	21					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M21I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CATCCTGGATGGATAAAGGTC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0					uc001sgp.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(61-63)ATG>ATA		neurogenic differentiation 4							81.0	76.0	78.0					12																	55420286		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420286G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.63G>A	12.37:g.55420286G>A	ENSP00000242994:p.Met21Ile						p.M21I	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	441	+			21					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.63G>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489560	0.26686	.	.	ENSG00000123307	ENST00000242994	D	0.94931	-3.56	5.25	4.36	0.52297	.	0.045710	0.85682	D	0.000000	D	0.91637	0.7357	L	0.60455	1.87	0.51767	D	0.999934	B	0.02656	0.0	B	0.04013	0.001	D	0.87587	0.2488	10	0.22109	T	0.4	-24.4641	12.2558	0.54623	0.0836:0.0:0.9164:0.0	.	21	Q9HD90	NDF4_HUMAN	I	21	ENSP00000242994:M21I	ENSP00000242994:M21I	M	+	3	0	NEUROD4	53706553	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	0.725000	0.25970	1.342000	0.45619	0.650000	0.86243	ATG		PASS	0.433	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			28	28	28	28	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615268	55615268	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55615268C>T	ENST00000326258.1	+	1	460	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P154S(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTCCGGTGTTCCTGTGTCTAT	0.488																																						uc010spf.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(460-462)CCT>TCT		olfactory receptor, family 10, subfamily A,							162.0	137.0	146.0					12																	55615268		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615268C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.460C>T	12.37:g.55615268C>T	ENSP00000326718:p.Pro154Ser						p.P154S	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	460	+			154			Helical; Name=4; (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.460C>T	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650883	0.47362	.	.	ENSG00000179919	ENST00000326258	T	0.36520	1.25	3.25	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000955	T	0.23926	0.0579	L	0.31294	0.92	0.09310	N	1	P	0.42584	0.784	B	0.44133	0.442	T	0.05435	-1.0885	10	0.23891	T	0.37	.	3.8927	0.09125	0.1911:0.5964:0.0:0.2125	.	154	Q8NGE5	O10A7_HUMAN	S	154	ENSP00000326718:P154S	ENSP00000326718:P154S	P	+	1	0	OR10A7	53901535	0.003000	0.15002	0.984000	0.44739	0.936000	0.57629	-0.620000	0.05565	0.721000	0.32231	0.637000	0.83480	CCT		PASS	0.488	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			36	42	36	42	---	---	---	---
OR6C74	254783	broad.mit.edu	37	12	55641500	55641500	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55641500C>T	ENST00000343870.4	+	1	519	c.429C>T	c.(427-429)gtC>gtT	p.V143V		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V143V(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCTTGCTGGTCTTTGCTTCAT	0.483																																						uc010spg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(427-429)GTC>GTT		olfactory receptor, family 6, subfamily C,							73.0	73.0	73.0					12																	55641500		2203	4300	6503	SO:0001819	synonymous_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641500C>T		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.429C>T	12.37:g.55641500C>T							p.V143V	NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN			1	429	+			143			Helical; Name=4; (Potential).			Silent	SNP	ENST00000343870.4	37	c.429C>T	CCDS31816.1																																																																																				PASS	0.483	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			30	24	30	24	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55714785	55714785	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55714785G>A	ENST00000379668.2	+	1	440	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M134I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGAGTATCATGAATCGAAGAG	0.428																																						uc010spi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(400-402)ATG>ATA		olfactory receptor, family 6, subfamily C,							47.0	45.0	46.0					12																	55714785		2203	4300	6503	SO:0001583	missense	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55714785G>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.402G>A	12.37:g.55714785G>A	ENSP00000368990:p.Met134Ile						p.M134I	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	402	+			134			Cytoplasmic (Potential).		B2RNM0	Missense_Mutation	SNP	ENST00000379668.2	37	c.402G>A	CCDS31818.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.244845	0.39697	.	.	ENSG00000205330	ENST00000379668	T	0.03301	3.98	4.59	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	M	0.87381	2.88	0.33164	D	0.547426	D	0.58268	0.982	P	0.59288	0.855	T	0.12372	-1.0550	10	0.62326	D	0.03	.	11.8726	0.52529	0.0885:0.0:0.9115:0.0	.	134	Q96RD1	OR6C1_HUMAN	I	134	ENSP00000368990:M134I	ENSP00000368990:M134I	M	+	3	0	OR6C1	54001052	1.000000	0.71417	0.996000	0.52242	0.129000	0.20672	4.974000	0.63771	2.382000	0.81193	0.449000	0.29647	ATG		PASS	0.428	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		14	20	14	20	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715295	55715295	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55715295G>A	ENST00000379668.2	+	1	950	c.912G>A	c.(910-912)agG>agA	p.R304R		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R304R(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACATGGCAAGGAAGACTGTAT	0.388																																						uc010spi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(910-912)AGG>AGA		olfactory receptor, family 6, subfamily C,							114.0	111.0	112.0					12																	55715295		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715295G>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.912G>A	12.37:g.55715295G>A							p.R304R	NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN			1	912	+			304			Cytoplasmic (Potential).		B2RNM0	Silent	SNP	ENST00000379668.2	37	c.912G>A	CCDS31818.1																																																																																				PASS	0.388	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		38	69	38	69	---	---	---	---
OR6C2	341416	broad.mit.edu	37	12	55846129	55846129	+	Silent	SNP	C	C	T	rs367560540		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55846129C>T	ENST00000322678.1	+	1	132	c.132C>T	c.(130-132)atC>atT	p.I44I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	44					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.I44I(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGACTATTATCACCCTCACAT	0.423																																						uc001sgz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(130-132)ATC>ATT		olfactory receptor, family 6, subfamily C,		C		0,4406		0,0,2203	131.0	124.0	126.0		132	1.3	0.1	12		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6C2	NM_054105.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		44/313	55846129	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846129C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.132C>T	12.37:g.55846129C>T							p.I44I	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	132	+			44			Helical; Name=1; (Potential).			Silent	SNP	ENST00000322678.1	37	c.132C>T	CCDS31824.1																																																																																				PASS	0.423	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		24	30	24	30	---	---	---	---
OR6C2	341416	broad.mit.edu	37	12	55846263	55846263	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55846263C>T	ENST00000322678.1	+	1	266	c.266C>T	c.(265-267)aCc>aTc	p.T89I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	89					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.T89I(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GGGGACAATACCATTACCTAC	0.378																																						uc001sgz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(265-267)ACC>ATC		olfactory receptor, family 6, subfamily C,							145.0	146.0	146.0					12																	55846263		2203	4299	6502	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846263C>T	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.266C>T	12.37:g.55846263C>T	ENSP00000323606:p.Thr89Ile						p.T89I	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	266	+			89			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.266C>T	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244796	0.22796	.	.	ENSG00000179695	ENST00000322678	T	0.00581	6.42	5.42	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.099783	0.44483	D	0.000457	T	0.00754	0.0025	M	0.71871	2.18	0.09310	N	1	B	0.16603	0.018	B	0.19391	0.025	T	0.47355	-0.9124	10	0.51188	T	0.08	.	2.7834	0.05367	0.1477:0.5478:0.1432:0.1613	.	89	Q9NZP2	OR6C2_HUMAN	I	89	ENSP00000323606:T89I	ENSP00000323606:T89I	T	+	2	0	OR6C2	54132530	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.585000	0.05794	0.822000	0.34565	0.609000	0.83330	ACC		PASS	0.378	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		8	82	8	82	---	---	---	---
OR6C70	390327	broad.mit.edu	37	12	55863430	55863430	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55863430C>T	ENST00000327335.4	-	1	492	c.493G>A	c.(493-495)Gat>Aat	p.D165N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D165N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GCACAGAAATCCAAGTTAAGA	0.368																																						uc010spn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)GAT>AAT		olfactory receptor, family 6, subfamily C,							80.0	82.0	81.0					12																	55863430		2203	4299	6502	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863430C>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.493G>A	12.37:g.55863430C>T	ENSP00000329153:p.Asp165Asn						p.D165N	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	493	-			165			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.493G>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562994	0.13498	.	.	ENSG00000184954	ENST00000327335	T	0.00076	8.76	4.06	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.117788	0.37304	N	0.002154	T	0.00144	0.0004	L	0.45352	1.415	0.09310	N	1	B	0.26512	0.151	B	0.33690	0.168	T	0.30179	-0.9987	10	0.59425	D	0.04	.	3.0686	0.06222	0.2155:0.5566:0.0:0.2278	.	165	A6NIJ9	O6C70_HUMAN	N	165	ENSP00000329153:D165N	ENSP00000329153:D165N	D	-	1	0	OR6C70	54149697	0.000000	0.05858	0.747000	0.31113	0.052000	0.14988	-1.709000	0.01890	1.045000	0.40225	0.655000	0.94253	GAT		PASS	0.368	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			10	46	10	46	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945068	55945068	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:55945068G>A	ENST00000394256.2	+	1	86	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E20K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAATCAACCTGAACTCCAAGT	0.408																																						uc010spp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GAA>AAA		olfactory receptor, family 6, subfamily C,							136.0	135.0	135.0					12																	55945068		2203	4300	6503	SO:0001583	missense	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945068G>A	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.58G>A	12.37:g.55945068G>A	ENSP00000377799:p.Glu20Lys						p.E20K	NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN			1	58	+			20			Extracellular (Potential).		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	c.58G>A	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239852	0.22711	.	.	ENSG00000179626	ENST00000394256	T	0.00441	7.41	4.77	1.62	0.23740	.	0.423425	0.19905	N	0.103425	T	0.00356	0.0011	L	0.42529	1.33	0.09310	N	1	B	0.14438	0.01	B	0.24269	0.052	T	0.36768	-0.9734	10	0.33940	T	0.23	.	11.3271	0.49454	0.0:0.2526:0.6173:0.1302	.	20	Q8NGE1	OR6C4_HUMAN	K	20	ENSP00000377799:E20K	ENSP00000377799:E20K	E	+	1	0	OR6C4	54231335	0.000000	0.05858	0.238000	0.24106	0.994000	0.84299	-0.058000	0.11750	0.676000	0.31285	0.644000	0.83932	GAA		PASS	0.408	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			44	49	44	49	---	---	---	---
RDH5	5959	broad.mit.edu	37	12	56118299	56118299	+	Silent	SNP	C	C	T	rs267607006		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:56118299C>T	ENST00000257895.5	+	5	1079	c.927C>T	c.(925-927)gtC>gtT	p.V309V	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Silent_p.V309V|RDH5_ENST00000547072.1_Silent_p.V212V	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	309					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.V309V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	TCACCTGGGTCCTTCCCAAGC	0.577											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001shk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(925-927)GTC>GTT		retinol dehydrogenase 5 (11-cis and 9-cis)	NADH(DB00157)|Vitamin A(DB00162)						76.0	73.0	74.0					12																	56118299		2203	4300	6503	SO:0001819	synonymous_variant	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118299C>T	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.927C>T	12.37:g.56118299C>T			OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RDH5_uc001shl.2_Silent_p.V309V	p.V309V	NM_002905	NP_002896	Q92781	RDH1_HUMAN			5	1110	+			309					O00179|Q8TAI2	Silent	SNP	ENST00000257895.5	37	c.927C>T	CCDS31829.1																																																																																				PASS	0.577	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		16	32	16	32	---	---	---	---
DGKA	1606	broad.mit.edu	37	12	56346688	56346688	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:56346688C>T	ENST00000331886.5	+	21	2368	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	DGKA_ENST00000394147.1_Silent_p.D638D|DGKA_ENST00000551156.1_Silent_p.D638D|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	638					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.D638D(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATCACCGACCCTGATATCC	0.552																																						uc001sij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1912-1914)GAC>GAT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						119.0	111.0	114.0					12																	56346688		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56346688C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1914C>T	12.37:g.56346688C>T						DGKA_uc009zod.1_Silent_p.D557D|DGKA_uc001sik.2_Silent_p.D638D|DGKA_uc001sil.2_Silent_p.D638D|DGKA_uc001sim.2_Silent_p.D638D|DGKA_uc001sin.2_Silent_p.D638D|DGKA_uc009zof.2_Silent_p.D284D|DGKA_uc001sio.2_Silent_p.D380D	p.D638D	NM_001345	NP_001336	P23743	DGKA_HUMAN			21	2178	+			638					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.1914C>T	CCDS8896.1																																																																																				PASS	0.552	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			18	71	18	71	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56718474	56718474	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:56718474G>A	ENST00000425394.2	-	11	1995	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L	PAN2_ENST00000257931.5_Missense_Mutation_p.P540L|PAN2_ENST00000440411.3_Missense_Mutation_p.P540L|PAN2_ENST00000548043.1_Missense_Mutation_p.P540L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.P540L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	ACAGCGTACAGGCTCCAGGAA	0.507																																						uc001skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1618-1620)CCT>CTT		PAN2 polyA specific ribonuclease subunit homolog							48.0	46.0	46.0					12																	56718474		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56718474G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1619C>T	12.37:g.56718474G>A	ENSP00000401721:p.Pro540Leu					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.P540L|PAN2_uc001sky.2_Missense_Mutation_p.P540L	p.P540L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			11	1992	-			540						Missense_Mutation	SNP	ENST00000425394.2	37	c.1619C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429326	0.96131	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.055575	0.64402	D	0.000001	T	0.15219	0.0367	L	0.43923	1.385	0.80722	D	1	D;P;D	0.61080	0.989;0.681;0.977	P;B;P	0.60236	0.871;0.319;0.828	T	0.09885	-1.0654	10	0.17832	T	0.49	-13.7752	18.1255	0.89584	0.0:0.0:1.0:0.0	.	540;540;540	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	L	540	ENSP00000401721:P540L;ENSP00000388231:P540L;ENSP00000257931:P540L;ENSP00000449861:P540L	ENSP00000257931:P540L	P	-	2	0	PAN2	55004741	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.740000	0.98839	2.650000	0.89964	0.557000	0.71058	CCT		PASS	0.507	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		3	34	3	34	---	---	---	---
APOF	319	broad.mit.edu	37	12	56755840	56755841	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:56755840_56755841GG>AA	ENST00000398189.3	-	2	226_227	c.149_150CC>TT	c.(148-150)cCC>cTT	p.P50L	STAT2_ENST00000314128.4_5'Flank|STAT2_ENST00000418572.2_5'Flank|STAT2_ENST00000557235.1_5'Flank|APOF_ENST00000541105.1_Missense_Mutation_p.P32L	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	50					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|high-density lipoprotein particle (GO:0034364)|low-density lipoprotein particle (GO:0034362)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)|receptor binding (GO:0005102)	p.P50L(2)|p.P50P(1)		breast(1)|lung(3)|prostate(1)|stomach(1)	6						CCAAGGACAAGGGAAAGTGCAT	0.52																																						uc001sle.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(148-150)CCC>CCT|c.(148-150)CCC>CTC		apolipoprotein F precursor																																				SO:0001583	missense	319				cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	g.chr12:56755840G>A|g.chr12:56755841G>A	L27050	CCDS44923.1	12q13	2013-01-24				ENSG00000175336		"""Apolipoproteins"""	615	protein-coding gene	gene with protein product		107760				8093033	Standard	NM_001638		Approved		uc001sle.1	Q13790		ENST00000398189.3:c.149_150delinsAA	12.37:g.56755840_56755841delinsAA	ENSP00000381250:p.Pro50Leu						p.P50P|p.P50L	NM_001638	NP_001629	Q13790	APOF_HUMAN			2	204|203	-			50					Q8TC13	Silent|Missense_Mutation	SNP	ENST00000398189.3	37	c.150C>T|c.149C>T	CCDS44923.1																																																																																				PASS	0.520	APOF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410076.1			12	94|95	12	94	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57000518	57000518	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57000518C>T	ENST00000551812.1	-	11	2292		c.e11-1		BAZ2A_ENST00000379441.3_Splice_Site|BAZ2A_ENST00000179765.5_Splice_Site|BAZ2A_ENST00000549884.1_Splice_Site	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.?(3)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTCAATGTTTCTGTGAGAGCA	0.478																																						uc001slq.1																			3	Unknown(3)		lung(3)		0						c.e11-1		bromodomain adjacent to zinc finger domain, 2A							248.0	235.0	239.0					12																	57000518		1929	4146	6075	SO:0001630	splice_region_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57000518C>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2099-1G>A	12.37:g.57000518C>T						BAZ2A_uc001slp.1_Splice_Site_p.E698_splice|BAZ2A_uc009zow.1_Splice_Site_p.E668_splice	p.E700_splice	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			11	2293	-								B3KN66|O00536|O15030|Q68DI8|Q96H26	Splice_Site	SNP	ENST00000551812.1	37	c.2099_splice	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759975	0.49468	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000547650	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1073	0.86667	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ2A	55286785	1.000000	0.71417	0.994000	0.49952	0.518000	0.34316	5.370000	0.66144	2.653000	0.90120	0.563000	0.77884	.		PASS	0.478	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	Intron	79	77	79	77	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57005682	57005682	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57005682G>A	ENST00000551812.1	-	6	1683	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P467L|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P465L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P495L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	497					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P497L(2)|p.P533L(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAGTTACGGGAGAGGCTTT	0.542																																						uc001slq.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1489-1491)CCC>CTC		bromodomain adjacent to zinc finger domain, 2A							47.0	50.0	49.0					12																	57005682		1936	4161	6097	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005682G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1490C>T	12.37:g.57005682G>A	ENSP00000446880:p.Pro497Leu					BAZ2A_uc001slp.1_Missense_Mutation_p.P495L|BAZ2A_uc009zow.1_Missense_Mutation_p.P465L	p.P497L	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			6	1684	-			497					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1490C>T	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.93|10.93	1.489823|1.489823	0.26686|0.26686	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884|ENST00000551996	T;T;T;T|T	0.64260|0.44881	-0.09;-0.09;-0.09;-0.09|0.91	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.381500|0.381500	0.26106|0.26106	N|N	0.026313|0.026313	T|T	0.34250|0.34250	0.0891|0.0891	N|N	0.14661|0.14661	0.345|0.345	0.42755|0.42755	D|D	0.99378|0.99378	B;B|.	0.12013|.	0.005;0.003|.	B;B|.	0.10450|.	0.005;0.002|.	T|T	0.22521|0.22521	-1.0214|-1.0214	10|8	0.52906|0.72032	T|D	0.07|0.01	.|.	10.2358|10.2358	0.43282|0.43282	0.0919:0.0:0.9081:0.0|0.0919:0.0:0.9081:0.0	.|.	495;497|.	F8VU39;Q9UIF9|.	.;BAZ2A_HUMAN|.	L|S	467;465;497;495|145	ENSP00000368754:P467L;ENSP00000179765:P465L;ENSP00000446880:P497L;ENSP00000447941:P495L|ENSP00000447591:P145S	ENSP00000179765:P465L|ENSP00000447591:P145S	P|P	-|-	2|1	0|0	BAZ2A|BAZ2A	55291949|55291949	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.755000|0.755000	0.42902|0.42902	4.200000|4.200000	0.58433|0.58433	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	CCC|CCG		PASS	0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		3	19	3	19	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57423021	57423021	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57423021C>T	ENST00000442789.2	-	28	3187	c.2900G>A	c.(2899-2901)gGg>gAg	p.G967E	MYO1A_ENST00000300119.3_Missense_Mutation_p.G967E|TAC3_ENST00000415231.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.G805E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	967	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G967E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAGTCCCCCTTGGAGCC	0.527																																						uc001smw.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(2899-2901)GGG>GAG		myosin IA							79.0	78.0	78.0					12																	57423021		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57423021C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2900G>A	12.37:g.57423021C>T	ENSP00000393392:p.Gly967Glu					MYO1A_uc010sqz.1_Missense_Mutation_p.G805E|MYO1A_uc009zpd.2_Missense_Mutation_p.G967E	p.G967E	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			27	3143	-			967					Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.2900G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469401	0.84533	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.36699	1.24;1.24;1.24	5.12	5.12	0.69794	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.87456	2.885	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.71381	-0.4610	10	0.87932	D	0	.	14.0713	0.64861	0.0:1.0:0.0:0.0	.	967	Q9UBC5	MYO1A_HUMAN	E	967;967;805	ENSP00000300119:G967E;ENSP00000393392:G967E;ENSP00000440514:G805E	ENSP00000300119:G967E	G	-	2	0	MYO1A	55709288	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.586000	0.60984	2.384000	0.81235	0.467000	0.42956	GGG		PASS	0.527	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		26	26	26	26	---	---	---	---
MYO1A	4640	broad.mit.edu	37	12	57440417	57440417	+	Nonsense_Mutation	SNP	G	G	A	rs146269737		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57440417G>A	ENST00000442789.2	-	9	846	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R187*|MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R25*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	187	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R187*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTCACTAATCGGGATTTCTCA	0.502																																						uc001smw.3																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(559-561)CGA>TGA		myosin IA		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	97.0	98.0		559	4.5	1.0	12	dbSNP_134	98	0,8600		0,0,4300	yes	stop-gained	MYO1A	NM_005379.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		187/1044	57440417	1,13005	2203	4300	6503	SO:0001587	stop_gained	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57440417G>A	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.559C>T	12.37:g.57440417G>A	ENSP00000393392:p.Arg187*					MYO1A_uc010sqz.1_Nonsense_Mutation_p.R25*|MYO1A_uc009zpd.2_Nonsense_Mutation_p.R187*	p.R187*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			8	802	-			187			Myosin head-like.		Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	37	c.559C>T	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	G	39	7.520436	0.98335	2.27E-4	0.0	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1568	0.72749	0.0:0.0:1.0:0.0	.	.	.	.	X	187;187;25	.	ENSP00000300119:R187X	R	-	1	2	MYO1A	55726684	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.513000	0.81739	2.519000	0.84933	0.655000	0.94253	CGA		PASS	0.502	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		33	36	33	36	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57588348	57588348	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57588348C>T	ENST00000243077.3	+	50	8534				MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCACACCTGCCTCGCCCCCCA	0.642																																						hsa-mir-1228|MI0006318																			0					0															56.0	60.0	58.0					12																	57588348		2203	4300	6503	SO:0001627	intron_variant	100302201							g.chr12:57588348C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8069-12C>T	12.37:g.57588348C>T						LRP1_uc001snd.2_Intron										+								Q2PP12|Q86SW0|Q8IVG8	RNA	SNP	ENST00000243077.3	37	c.62C>T	CCDS8932.1																																																																																				PASS	0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		17	15	17	15	---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57638117	57638117	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57638117G>A	ENST00000332782.2	-	10	1040	c.839C>T	c.(838-840)tCc>tTc	p.S280F	STAC3_ENST00000546246.2_Missense_Mutation_p.S94F|STAC3_ENST00000554578.1_Missense_Mutation_p.S241F	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	280	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.S280F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TTCTTCATTGGAGTCATCAAT	0.567											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001snp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(838-840)TCC>TTC		SH3 and cysteine rich domain 3							83.0	75.0	78.0					12																	57638117		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57638117G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.839C>T	12.37:g.57638117G>A	ENSP00000329200:p.Ser280Phe		OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.S241F|STAC3_uc010srm.1_Missense_Mutation_p.S94F	p.S280F	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			10	1034	-			280			SH3 1.		B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.839C>T	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964929	0.92855	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000546246	T;T;T	0.54071	0.59;0.59;0.59	5.39	5.39	0.77823	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.79040	-0.1966	10	0.87932	D	0	-16.7224	18.298	0.90153	0.0:0.0:1.0:0.0	.	280	Q96MF2	STAC3_HUMAN	F	241;280;94	ENSP00000452068:S241F;ENSP00000329200:S280F;ENSP00000441515:S94F	ENSP00000329200:S280F	S	-	2	0	STAC3	55924384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.710000	0.92621	0.655000	0.94253	TCC		PASS	0.567	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		24	24	24	24	---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57873026	57873026	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:57873026C>T	ENST00000356411.2	-	2	302	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R55Q|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R134Q|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R126Q|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R55Q			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	55	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R55Q(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTTGGTCTTTCGAAGCAGTAG	0.557																																						uc001sod.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(376-378)CGA>CAA		Rho GTPase activating protein 9 isoform 1							127.0	109.0	115.0					12																	57873026		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57873026C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.164G>A	12.37:g.57873026C>T	ENSP00000348782:p.Arg55Gln					ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R55Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.R55Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.R134Q|ARHGAP9_uc010sro.1_Missense_Mutation_p.R55Q	p.R126Q	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	570	-			55			SH3.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	C	13.41	2.227848	0.39399	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.97	2.16	0.27623	Src homology-3 domain (4);	0.301676	0.27210	N	0.020418	T	0.26955	0.0660	N	0.22421	0.69	0.24843	N	0.992453	P;B;B;B;B	0.35575	0.51;0.007;0.007;0.002;0.007	B;B;B;B;B	0.27715	0.082;0.007;0.007;0.002;0.007	T	0.11470	-1.0586	10	0.54805	T	0.06	.	7.3978	0.26946	0.0:0.719:0.0:0.281	.	55;134;55;55;55	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	Q	55;55;55;126;104	ENSP00000377380:R55Q;ENSP00000348782:R55Q;ENSP00000394307:R55Q;ENSP00000377386:R126Q	ENSP00000344852:R104Q	R	-	2	0	ARHGAP9	56159293	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	1.052000	0.30429	0.234000	0.21139	-0.137000	0.14449	CGA		PASS	0.557	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		10	47	10	47	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58010570	58010570	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:58010570C>T	ENST00000286494.4	+	15	2096	c.1636C>T	c.(1636-1638)Ctt>Ttt	p.L546F	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.L585F|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	546						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L546F(1)|p.L585F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTTCAGGCCCTTGGTGACAT	0.507																																						uc001spb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1636-1638)CTT>TTT		RhoA/RAC/CDC42 exchange factor isoform 1							129.0	145.0	140.0					12																	58010570		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010570C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1636C>T	12.37:g.58010570C>T	ENSP00000286494:p.Leu546Phe					GEFT_uc009zpy.2_Missense_Mutation_p.L585F|GEFT_uc001spa.2_Missense_Mutation_p.L440F|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.L251F	p.L546F	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			15	2096	+	Melanoma(17;0.122)		546					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1636C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	3.704	-0.060849	0.07317	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.55234	0.53;0.63	4.83	3.01	0.34805	.	0.760544	0.10833	N	0.629138	T	0.41351	0.1155	L	0.27053	0.805	0.09310	N	1	B;B	0.22480	0.0;0.07	B;B	0.28011	0.002;0.085	T	0.39313	-0.9620	10	0.56958	D	0.05	.	8.8594	0.35247	0.0:0.823:0.0:0.177	.	585;546	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	F	585;546	ENSP00000335560:L585F;ENSP00000286494:L546F	ENSP00000286494:L546F	L	+	1	0	ARHGEF25	56296837	0.000000	0.05858	0.009000	0.14445	0.108000	0.19459	0.376000	0.20535	0.763000	0.33175	0.563000	0.77884	CTT		PASS	0.507	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		53	74	53	74	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58112049	58112049	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:58112049G>A	ENST00000315970.7	+	11	1296	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	OS9_ENST00000389142.5_Missense_Mutation_p.E419K|OS9_ENST00000413095.2_Missense_Mutation_p.E213K|OS9_ENST00000551035.1_Missense_Mutation_p.E387K|OS9_ENST00000257966.8_Missense_Mutation_p.E420K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.E419K|OS9_ENST00000439210.2_Missense_Mutation_p.E360K|OS9_ENST00000389146.6_Missense_Mutation_p.E419K|OS9_ENST00000435406.2_Missense_Mutation_p.E367K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	419	Asp/Glu-rich (acidic).				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.E419K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			agaggaggatgaggatgagga	0.532																																						uc001spj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)GAG>AAG		osteosarcoma amplified 9, endoplasmic reticulum							250.0	210.0	224.0					12																	58112049		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58112049G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1255G>A	12.37:g.58112049G>A	ENSP00000318165:p.Glu419Lys					OS9_uc010srx.1_Missense_Mutation_p.E213K|OS9_uc001spk.2_Missense_Mutation_p.E419K|OS9_uc001spl.2_Missense_Mutation_p.E419K|OS9_uc001spm.2_Missense_Mutation_p.E419K|OS9_uc001spn.2_Missense_Mutation_p.E420K|OS9_uc010sry.1_Missense_Mutation_p.E387K|OS9_uc010srz.1_Missense_Mutation_p.E360K	p.E419K	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1314	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		419			Asp/Glu-rich (acidic).		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1255G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520247	0.44866	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.32753	1.9;1.83;1.85;1.88;1.44;1.87;1.89;1.87;1.87	5.28	4.39	0.52855	.	1.177210	0.06686	U	0.768759	T	0.28928	0.0718	N	0.14661	0.345	0.36079	D	0.842652	P;B;P;P;B;P;B;B	0.47545	0.799;0.001;0.897;0.731;0.001;0.611;0.004;0.113	B;B;P;B;B;B;B;B	0.51615	0.197;0.004;0.675;0.318;0.002;0.169;0.004;0.031	T	0.05068	-1.0908	10	0.16420	T	0.52	.	9.9449	0.41602	0.1632:0.0:0.8368:0.0	.	360;387;213;420;419;419;419;419	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	419;419;360;419;213;387;420;367;419	ENSP00000450010:E419K;ENSP00000318165:E419K;ENSP00000407360:E360K;ENSP00000373798:E419K;ENSP00000413112:E213K;ENSP00000447866:E387K;ENSP00000257966:E420K;ENSP00000389632:E367K;ENSP00000373794:E419K	ENSP00000257966:E420K	E	+	1	0	OS9	56398316	0.801000	0.28930	0.132000	0.22025	0.031000	0.12232	2.090000	0.41682	1.466000	0.48025	0.655000	0.94253	GAG		PASS	0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		5	34	5	34	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58125160	58125160	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:58125160G>A	ENST00000547588.1	-	10	2133	c.2134C>T	c.(2134-2136)Ccc>Tcc	p.P712S	AGAP2_ENST00000257897.3_Missense_Mutation_p.P376S	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	712	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.P712S(1)|p.P376S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTAATACTGGGGTGGTAGAGT	0.453																																						uc001spq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(2134-2136)CCC>TCC		centaurin, gamma 1 isoform PIKE-L							114.0	108.0	110.0					12																	58125160		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125160G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2134C>T	12.37:g.58125160G>A	ENSP00000449241:p.Pro712Ser					AGAP2_uc001spp.2_Missense_Mutation_p.P712S|AGAP2_uc001spr.2_Missense_Mutation_p.P376S	p.P712S	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			10	2134	-			712			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2134C>T	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.145287|2.145287	0.37825|0.37825	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000328568|ENST00000257897;ENST00000547588;ENST00000549129	.|T;T;T	.|0.15952	.|2.38;2.38;2.38	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.066460|0.066460	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.20292|0.20292	0.0488|0.0488	L|L	0.33245|0.33245	0.995|0.995	0.50039|0.50039	D|D	0.999844|0.999844	.|B;B;B	.|0.32653	.|0.328;0.178;0.379	.|B;B;B	.|0.41174	.|0.155;0.237;0.349	T|T	0.03060|0.03060	-1.1077|-1.1077	6|10	.|0.31617	.|T	.|0.26	.|.	17.7595|17.7595	0.88460|0.88460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|376;712;712	.|Q99490-2;F8VVT9;Q99490	.|.;.;AGAP2_HUMAN	L|S	575|376;712;68	.|ENSP00000257897:P376S;ENSP00000449241:P712S;ENSP00000446683:P68S	.|ENSP00000257897:P376S	P|P	-|-	2|1	0|0	AGAP2|AGAP2	56411427|56411427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.850000|4.850000	0.62889|0.62889	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CCC|CCC		PASS	0.453	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		24	41	24	41	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59274433	59274433	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:59274433C>A	ENST00000320743.3	-	13	2017	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G	LRIG3_ENST00000379141.4_Silent_p.G517G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	577	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G577G(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGATATTTCCCCTCACTGG	0.463			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1729-1731)GGG>GGT		leucine-rich repeats and immunoglobulin-like							84.0	76.0	79.0					12																	59274433		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274433C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1731G>T	12.37:g.59274433C>A						LRIG3_uc009zqh.2_Silent_p.G517G|LRIG3_uc010ssh.1_RNA	p.G577G	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1977	-			577			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1731G>T	CCDS8960.1																																																																																				PASS	0.463	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		7	41	7	41	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60168610	60168610	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:60168610C>T	ENST00000261187.4	+	4	698	c.534C>T	c.(532-534)ttC>ttT	p.F178F	SLC16A7_ENST00000547379.1_Silent_p.F178F|SLC16A7_ENST00000543448.1_Silent_p.F79F|SLC16A7_ENST00000552432.1_Silent_p.F178F|SLC16A7_ENST00000552024.1_Silent_p.F178F	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	178					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F178F(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	AAGGAAGCTTCCTGATTTTGG	0.428																																						uc001sqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)TTC>TTT		solute carrier family 16, member 7	Pyruvic acid(DB00119)						68.0	68.0	68.0					12																	60168610		2202	4300	6502	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168610C>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.534C>T	12.37:g.60168610C>T						SLC16A7_uc001sqt.2_Silent_p.F178F|SLC16A7_uc001squ.2_Silent_p.F178F|SLC16A7_uc009zqi.2_Silent_p.F79F|SLC16A7_uc010ssi.1_Silent_p.F79F	p.F178F	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	833	+			178			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.534C>T	CCDS8961.1																																																																																				PASS	0.428	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		8	13	8	13	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64377732	64377732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:64377732C>T	ENST00000355086.3	+	2	597	c.73C>T	c.(73-75)Cga>Tga	p.R25*	SRGAP1_ENST00000543397.1_5'UTR|SRGAP1_ENST00000357825.3_Nonsense_Mutation_p.R25*	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	25	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R25*(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTAGAAATTCGAGCTCAACT	0.383																																						uc010ssp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(73-75)CGA>TGA		SLIT-ROBO Rho GTPase activating protein 1							58.0	62.0	60.0					12																	64377732		2203	4300	6503	SO:0001587	stop_gained	57522				axon guidance	cytosol		g.chr12:64377732C>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.73C>T	12.37:g.64377732C>T	ENSP00000347198:p.Arg25*					SRGAP1_uc001srt.2_Nonsense_Mutation_p.R25*|SRGAP1_uc001srv.2_5'UTR	p.R25*	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	129	+			25			FCH.		Q9H8A3|Q9P2P2	Nonsense_Mutation	SNP	ENST00000355086.3	37	c.73C>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	38	6.878628	0.97904	.	.	ENSG00000196935	ENST00000355086;ENST00000357825	.	.	.	4.89	4.89	0.63831	.	0.000000	0.29300	U	0.012549	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4431	0.90674	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	.	R	+	1	2	SRGAP1	62663999	0.999000	0.42202	1.000000	0.80357	0.930000	0.56654	3.923000	0.56469	2.437000	0.82529	0.585000	0.79938	CGA		PASS	0.383	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			12	47	12	47	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64814175	64814176	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:64814175_64814176AC>TT	ENST00000332707.5	+	8	1246_1247	c.717_718AC>TT	c.(715-720)ctACgg>ctTTgg	p.R240W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	240	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.R240W(3)|p.L239L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TAGAAGTTCTACGGGAAGAAGC	0.327																																						uc001ssb.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|central_nervous_system(1)	ovary(2)	2						c.(715-717)CTA>CTT|c.(718-720)CGG>TGG		tRNA exportin																																				SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64814175A>T|g.chr12:64814176C>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	Exception_encountered	12.37:g.64814175_64814176delinsTT	ENSP00000327821:p.Arg240Trp					XPOT_uc009zqm.1_Silent_p.L149L|XPOT_uc009zqm.1_Missense_Mutation_p.R150W	p.L239L|p.R240W	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	8	1143|1144	+			239|240			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent|Missense_Mutation	SNP	ENST00000332707.5	37	c.717A>T|c.718C>T	CCDS31852.1																																																																																				PASS	0.327	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		13	30	13	30	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66700216	66700216	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:66700216A>G	ENST00000247815.4	+	3	758	c.699A>G	c.(697-699)atA>atG	p.I233M		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	233					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.I233M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGATCATAGGGTCAGGTT	0.368																																						uc001sti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(697-699)ATA>ATG		helicase (DNA) B							115.0	119.0	117.0					12																	66700216		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700216A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.699A>G	12.37:g.66700216A>G	ENSP00000247815:p.Ile233Met					HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	p.I233M	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	727	+			233					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.699A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.071953	0.55646	.	.	ENSG00000127311	ENST00000247815	T	0.14022	2.54	5.9	-5.17	0.02849	.	0.350421	0.28989	N	0.013485	T	0.15349	0.0370	M	0.62723	1.935	0.09310	N	1	P	0.45902	0.868	P	0.48030	0.564	T	0.05954	-1.0854	9	.	.	.	-14.1967	9.3539	0.38155	0.2259:0.5581:0.216:0.0	.	233	Q8NG08	HELB_HUMAN	M	233	ENSP00000247815:I233M	.	I	+	3	3	HELB	64986483	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.107000	0.10873	-0.780000	0.04553	-0.488000	0.04728	ATA		PASS	0.368	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			6	47	6	47	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66771034	66771034	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:66771034C>T	ENST00000398016.3	-	20	2565	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E885K|GRIP1_ENST00000359742.4_Missense_Mutation_p.E885K	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.E833K(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCTTGTTCTGTCTCTGCA	0.478																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2497-2499)GAA>AAA		glutamate receptor interacting protein 1							151.0	150.0	150.0					12																	66771034		1863	4094	5957	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66771034C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2497G>A	12.37:g.66771034C>T	ENSP00000381098:p.Glu833Lys					GRIP1_uc010sta.1_Missense_Mutation_p.E777K|GRIP1_uc001stj.2_Missense_Mutation_p.E615K|GRIP1_uc001stl.1_Missense_Mutation_p.E725K|GRIP1_uc001stm.2_Missense_Mutation_p.E833K	p.E833K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	20	2738	-			885					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2497G>A	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852612	0.32699	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.8	5.8	0.92144	.	0.137241	0.64402	D	0.000004	T	0.74215	0.3687	L	0.53249	1.67	0.58432	D	0.999996	B;B;B;P	0.37663	0.008;0.015;0.101;0.604	B;B;B;B	0.32980	0.012;0.005;0.062;0.156	T	0.72308	-0.4332	9	.	.	.	-20.2913	20.0637	0.97700	0.0:1.0:0.0:0.0	.	833;885;833;885	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	K	833;885;885;833;777;725	ENSP00000381098:E833K;ENSP00000352780:E885K;ENSP00000286445:E885K;ENSP00000446047:E833K;ENSP00000446024:E777K;ENSP00000446011:E725K	.	E	-	1	0	GRIP1	65057301	1.000000	0.71417	0.443000	0.26883	0.042000	0.13812	7.365000	0.79537	2.751000	0.94390	0.650000	0.86243	GAA		PASS	0.478	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			62	84	62	84	---	---	---	---
IL22	50616	broad.mit.edu	37	12	68646567	68646567	+	Missense_Mutation	SNP	C	C	T	rs201505783		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:68646567C>T	ENST00000538666.1	-	3	299	c.229G>A	c.(229-231)Gag>Aag	p.E77K	IL22_ENST00000328087.4_Missense_Mutation_p.E77K			Q9GZX6	IL22_HUMAN	interleukin 22	77					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.E77K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		AACAGTTTCTCCCCAATGAGA	0.468																																						uc001sty.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GAG>AAG		interleukin 22 precursor							125.0	111.0	116.0					12																	68646567		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68646567C>T	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.229G>A	12.37:g.68646567C>T	ENSP00000442424:p.Glu77Lys					IL22_uc010stb.1_Missense_Mutation_p.E77K	p.E77K	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	2	282	-		Myeloproliferative disorder(1001;0.0255)	77						Missense_Mutation	SNP	ENST00000538666.1	37	c.229G>A	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.256634	0.22965	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.48522	0.81;0.81	5.13	-2.71	0.05986	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.806170	0.02221	N	0.064006	T	0.27278	0.0669	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05402	-1.0887	9	.	.	.	-0.5217	2.6892	0.05116	0.1319:0.2201:0.1296:0.5184	.	77	Q9GZX6	IL22_HUMAN	K	77	ENSP00000442424:E77K;ENSP00000329384:E77K	.	E	-	1	0	IL22	66932834	0.000000	0.05858	0.015000	0.15790	0.276000	0.26787	-0.553000	0.06012	-0.407000	0.07576	0.558000	0.71614	GAG		PASS	0.468	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		27	34	27	34	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70946555	70946555	+	Splice_Site	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:70946555A>G	ENST00000261266.5	-	19	4763		c.e19+1		PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000334414.6_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550358.1_Splice_Site	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(3)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATATATCTAACCTGTAGGCA	0.448																																						uc001swb.3																			3	Unknown(3)		lung(3)	lung(2)|skin(1)	3						c.e19+1		protein tyrosine phosphatase, receptor type, B							92.0	91.0	91.0					12																	70946555		1964	4166	6130	SO:0001630	splice_region_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946555A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4733+1T>C	12.37:g.70946555A>G						PTPRB_uc010sto.1_Splice_Site_p.R1488_splice|PTPRB_uc010stp.1_Splice_Site_p.R1488_splice|PTPRB_uc001swc.3_Splice_Site_p.R1796_splice|PTPRB_uc001swa.3_Splice_Site_p.R1708_splice	p.R1578_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	4763	-	Renal(347;0.236)							B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Splice_Site	SNP	ENST00000261266.5	37	c.4733_splice	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091526	0.76756	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.693	0.77469	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRB	69232822	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	8.544000	0.90654	2.104000	0.64026	0.477000	0.44152	.		PASS	0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		Intron	18	20	18	20	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70954712	70954712	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:70954712G>A	ENST00000261266.5	-	15	3546	c.3517C>T	c.(3517-3519)Cca>Tca	p.P1173S	PTPRB_ENST00000550857.1_Missense_Mutation_p.P1083S|PTPRB_ENST00000334414.6_Missense_Mutation_p.P1391S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1083S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1390S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1083S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1303S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1173	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1173S(2)|p.P1391S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAGGCTGGGACTTAAACA	0.473																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(3517-3519)CCA>TCA		protein tyrosine phosphatase, receptor type, B							98.0	91.0	93.0					12																	70954712		1893	4103	5996	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954712G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3517C>T	12.37:g.70954712G>A	ENSP00000261266:p.Pro1173Ser					PTPRB_uc010sto.1_Missense_Mutation_p.P1083S|PTPRB_uc010stp.1_Missense_Mutation_p.P1083S|PTPRB_uc001swc.3_Missense_Mutation_p.P1391S|PTPRB_uc001swa.3_Missense_Mutation_p.P1303S|PTPRB_uc001swd.3_Missense_Mutation_p.P1390S|PTPRB_uc009zrr.1_Missense_Mutation_p.P1270S	p.P1173S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		15	3547	-	Renal(347;0.236)		1173			Fibronectin type-III 14.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3517C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.578831	0.86645	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.84326	2.69	0.80722	D	1	P;P;P;D;D;P;D	0.76494	0.757;0.599;0.771;0.999;0.99;0.867;0.99	P;P;B;D;P;P;P	0.70487	0.746;0.746;0.394;0.969;0.89;0.682;0.89	T	0.53236	-0.8467	10	0.72032	D	0.01	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	1083;1083;1270;1390;1391;1173;1303	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	S	1391;1083;1303;1083;1083;1173;1390;1270	ENSP00000334928:P1391S;ENSP00000393028:P1083S;ENSP00000448058:P1303S;ENSP00000438927:P1083S;ENSP00000447302:P1083S;ENSP00000261266:P1173S;ENSP00000448349:P1390S;ENSP00000446982:P1270S	ENSP00000261266:P1173S	P	-	1	0	PTPRB	69240979	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.103000	0.94232	2.421000	0.82119	0.558000	0.71614	CCA		PASS	0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			24	116	24	116	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70981045	70981045	+	Missense_Mutation	SNP	G	G	A	rs3960114		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:70981045G>A	ENST00000261266.5	-	7	1428	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PTPRB_ENST00000550857.1_Missense_Mutation_p.P377S|PTPRB_ENST00000334414.6_Missense_Mutation_p.P685S|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.P467S|PTPRB_ENST00000551525.1_Missense_Mutation_p.P684S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P377S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P685S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	467	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P467S(2)|p.P685S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGCCAGGGGGACTGAGGAA	0.458																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(1399-1401)CCC>TCC		protein tyrosine phosphatase, receptor type, B							51.0	50.0	50.0					12																	70981045		2004	4176	6180	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70981045G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1399C>T	12.37:g.70981045G>A	ENSP00000261266:p.Pro467Ser					PTPRB_uc010sto.1_Missense_Mutation_p.P467S|PTPRB_uc010stp.1_Missense_Mutation_p.P377S|PTPRB_uc001swc.3_Missense_Mutation_p.P685S|PTPRB_uc001swa.3_Missense_Mutation_p.P685S|PTPRB_uc001swd.3_Missense_Mutation_p.P684S|PTPRB_uc009zrr.1_Missense_Mutation_p.P564S	p.P467S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1429	-	Renal(347;0.236)		467			Fibronectin type-III 6.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1399C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426588	0.83667	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.12	5.12	0.69794	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82716	2.605	0.53005	D	0.999967	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.994;0.994;0.996;0.997;0.991;0.985;0.991	T	0.54490	-0.8286	10	0.72032	D	0.01	.	18.5628	0.91107	0.0:0.0:1.0:0.0	.	377;467;564;684;685;467;685	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	S	685;377;685;685;467;377;467;684;564	ENSP00000334928:P685S;ENSP00000393028:P377S;ENSP00000448058:P685S;ENSP00000438927:P467S;ENSP00000447302:P377S;ENSP00000261266:P467S;ENSP00000448349:P684S;ENSP00000446982:P564S	ENSP00000261266:P467S	P	-	1	0	PTPRB	69267312	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.885000	0.87282	2.368000	0.80403	0.557000	0.71058	CCC		PASS	0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	32	6	32	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71095095	71095095	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:71095095G>A	ENST00000283228.2	-	7	1468	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	PTPRR_ENST00000378778.1_Missense_Mutation_p.S133F|PTPRR_ENST00000440835.2_Missense_Mutation_p.S94F|PTPRR_ENST00000342084.4_Missense_Mutation_p.S227F|PTPRR_ENST00000549308.1_Missense_Mutation_p.S94F	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	339					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S339F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGATACGTTGGACCCTCTTCT	0.403																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1015-1017)TCC>TTC		protein tyrosine phosphatase, receptor type, R							91.0	80.0	84.0					12																	71095095		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095095G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1016C>T	12.37:g.71095095G>A	ENSP00000283228:p.Ser339Phe					PTPRR_uc001swh.1_Missense_Mutation_p.S94F|PTPRR_uc009zrs.2_Missense_Mutation_p.S188F|PTPRR_uc010stq.1_Missense_Mutation_p.S227F|PTPRR_uc010str.1_Missense_Mutation_p.S188F	p.S339F	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1432	-			339			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1016C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630633	0.87660	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.49139	3.67;3.3;3.59;3.52;3.67;0.79	5.59	5.59	0.84812	.	0.000000	0.52532	D	0.000069	T	0.73418	0.3584	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.996;0.996;0.998;0.996	T	0.76041	-0.3104	10	0.72032	D	0.01	-11.9323	19.956	0.97218	0.0:0.0:1.0:0.0	.	188;227;133;339	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	F	94;339;133;227;94;94	ENSP00000391750:S94F;ENSP00000283228:S339F;ENSP00000368054:S133F;ENSP00000339605:S227F;ENSP00000446943:S94F;ENSP00000449616:S94F	ENSP00000283228:S339F	S	-	2	0	PTPRR	69381362	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.726000	0.91474	2.788000	0.95919	0.557000	0.71058	TCC		PASS	0.403	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		7	35	7	35	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71148030	71148030	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:71148030C>T	ENST00000283228.2	-	5	1131	c.679G>A	c.(679-681)Gga>Aga	p.G227R	PTPRR_ENST00000378778.1_Missense_Mutation_p.G21R|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.G115R|PTPRR_ENST00000549308.1_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	227					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G227R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCATAAAATCCTTCTTTGCTC	0.353																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(679-681)GGA>AGA		protein tyrosine phosphatase, receptor type, R							140.0	135.0	137.0					12																	71148030		2203	4299	6502	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71148030C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.679G>A	12.37:g.71148030C>T	ENSP00000283228:p.Gly227Arg					PTPRR_uc001swh.1_5'UTR|PTPRR_uc009zrs.2_Missense_Mutation_p.G76R|PTPRR_uc010stq.1_Missense_Mutation_p.G115R|PTPRR_uc010str.1_Missense_Mutation_p.G76R	p.G227R	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	5	1095	-			227			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.679G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603517	0.87157	.	.	ENSG00000153233	ENST00000283228;ENST00000378778;ENST00000342084	T;T;T	0.35789	1.29;1.29;1.29	5.86	5.86	0.93980	.	0.000000	0.47455	U	0.000225	T	0.60196	0.2250	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.59674	-0.7410	10	0.87932	D	0	-19.3999	20.1784	0.98192	0.0:1.0:0.0:0.0	.	76;115;21;227	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	R	227;21;115	ENSP00000283228:G227R;ENSP00000368054:G21R;ENSP00000339605:G115R	ENSP00000283228:G227R	G	-	1	0	PTPRR	69434297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.678000	0.61641	2.771000	0.95319	0.643000	0.83706	GGA		PASS	0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		9	14	9	14	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71977894	71977894	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:71977894G>A	ENST00000266674.5	+	18	2415	c.2104G>A	c.(2104-2106)Ggt>Agt	p.G702S	LGR5_ENST00000540815.2_Missense_Mutation_p.G678S|LGR5_ENST00000536515.1_Missense_Mutation_p.G630S|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	702					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.G702S(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCCCTGCTGGGTGGCAGCAA	0.537																																						uc001swl.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(2104-2106)GGT>AGT		leucine-rich repeat-containing G protein-coupled							147.0	149.0	149.0					12																	71977894		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977894G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2104G>A	12.37:g.71977894G>A	ENSP00000266674:p.Gly702Ser					LGR5_uc001swm.2_Missense_Mutation_p.G678S|LGR5_uc001swn.1_Intron	p.G702S	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2152	+			702			Helical; Name=4; (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.2104G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369484	0.05069	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.69306	-0.39;-0.39;-0.39	5.85	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.399297	0.23881	N	0.043649	T	0.47838	0.1467	L	0.33624	1.015	0.20563	N	0.999884	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.006	T	0.17107	-1.0380	10	0.11485	T	0.65	.	6.7196	0.23323	0.1704:0.0:0.6717:0.1579	.	678;702	O75473-2;O75473	.;LGR5_HUMAN	S	702;702;630;678	ENSP00000266674:G702S;ENSP00000443033:G630S;ENSP00000441035:G678S	ENSP00000266674:G702S	G	+	1	0	LGR5	70264161	1.000000	0.71417	0.995000	0.50966	0.887000	0.51463	2.314000	0.43743	2.767000	0.95098	0.655000	0.94253	GGT		PASS	0.537	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		17	89	17	89	---	---	---	---
THAP2	83591	broad.mit.edu	37	12	72070878	72070879	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:72070878_72070879CC>TT	ENST00000308086.2	+	3	2178_2179	c.677_678CC>TT	c.(676-678)aCC>aTT	p.T226I	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	226						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T226I(2)|p.T226T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACCAAGAGTACCTTCATTTAAA	0.327																																						uc001swq.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(676-678)ACC>ATC|c.(676-678)ACC>ACT		THAP domain containing, apoptosis associated																																				SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070878C>T|g.chr12:72070879C>T	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	Exception_encountered	12.37:g.72070878_72070879delinsTT	ENSP00000310796:p.Thr226Ile						p.T226I|p.T226T	NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN			3	1183|1184	+			226					B2R8P3	Missense_Mutation|Silent	SNP	ENST00000308086.2	37	c.677C>T|c.678C>T	CCDS9001.1																																																																																				PASS	0.327	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		7	29	7	29	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73056884	73056884	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:73056884G>A	ENST00000261180.4	+	19	3080	c.2984G>A	c.(2983-2985)cGa>cAa	p.R995Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	995					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R995Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTTTCTCACGAGCTGTGGAA	0.388																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2983-2985)CGA>CAA		thyrotropin-releasing hormone degrading enzyme							62.0	65.0	64.0					12																	73056884		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056884G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2984G>A	12.37:g.73056884G>A	ENSP00000261180:p.Arg995Gln						p.R995Q	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			19	3014	+			995			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2984G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468490	0.26335	.	.	ENSG00000072657	ENST00000261180	T	0.03860	3.78	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	N	0.01522	-0.82	0.80722	D	1	B	0.29301	0.241	B	0.27715	0.082	T	0.45512	-0.9256	10	0.02654	T	1	.	19.4305	0.94762	0.0:0.0:1.0:0.0	.	995	Q9UKU6	TRHDE_HUMAN	Q	995	ENSP00000261180:R995Q	ENSP00000261180:R995Q	R	+	2	0	TRHDE	71343151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.012000	0.76366	2.673000	0.90976	0.557000	0.71058	CGA		PASS	0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		15	35	15	35	---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76763451	76763451	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:76763451G>A	ENST00000261183.3	-	20	2685	c.2206C>T	c.(2206-2208)Cca>Tca	p.P736S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.P694S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.P694S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	736					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.P736S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCTGTGAGTGGATCAAGTTCA	0.353																																						uc001sye.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2206-2208)CCA>TCA		oxysterol-binding protein-like protein 8 isoform							148.0	122.0	131.0					12																	76763451		2202	4299	6501	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76763451G>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2206C>T	12.37:g.76763451G>A	ENSP00000261183:p.Pro736Ser					OSBPL8_uc001syf.1_Missense_Mutation_p.P694S|OSBPL8_uc001syg.1_Missense_Mutation_p.P694S|OSBPL8_uc001syh.1_Missense_Mutation_p.P711S	p.P736S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			20	2686	-			736					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.2206C>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285868	0.23478	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	T;T;T	0.30981	1.51;1.51;1.51	5.33	-1.27	0.09347	.	0.382414	0.30519	N	0.009442	T	0.16514	0.0397	L	0.33485	1.01	0.32703	N	0.512612	B	0.09022	0.002	B	0.13407	0.009	T	0.22521	-1.0214	10	0.15952	T	0.53	-0.0015	6.3665	0.21457	0.3395:0.2239:0.4366:0.0	.	736	Q9BZF1	OSBL8_HUMAN	S	694;736;721;694	ENSP00000376939:P694S;ENSP00000261183:P736S;ENSP00000376940:P694S	ENSP00000261183:P736S	P	-	1	0	OSBPL8	75287582	0.998000	0.40836	0.989000	0.46669	0.993000	0.82548	0.442000	0.21628	0.044000	0.15775	-0.137000	0.14449	CCA		PASS	0.353	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		6	45	6	45	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:81111227C>T	ENST00000228644.3	+	1	537	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	129	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAATGCCATCCGCTACATCGA	0.587																																						uc001szg.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(385-387)CGC>TGC		myogenic factor 5							91.0	90.0	91.0					12																	81111227		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111227C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.385C>T	12.37:g.81111227C>T	ENSP00000228644:p.Arg129Cys						p.R129C	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	520	+			129			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.385C>T	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478591	0.63849	.	.	ENSG00000111049	ENST00000228644	D	0.98028	-4.67	6.06	5.1	0.69264	Helix-loop-helix DNA-binding (5);	0.103424	0.64402	D	0.000004	D	0.97371	0.9140	L	0.37507	1.11	0.49582	D	0.999805	D	0.76494	0.999	P	0.60609	0.877	D	0.97499	1.0059	10	0.62326	D	0.03	-7.3133	16.3625	0.83273	0.1948:0.8052:0.0:0.0	.	129	P13349	MYF5_HUMAN	C	129	ENSP00000228644:R129C	ENSP00000228644:R129C	R	+	1	0	MYF5	79635358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.807000	0.38902	2.882000	0.98803	0.655000	0.94253	CGC		PASS	0.587	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		41	53	41	53	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81528754	81528754	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:81528754G>A	ENST00000548058.1	+	3	1526	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	ACSS3_ENST00000261206.3_Missense_Mutation_p.E205K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	206						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.E206K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGCTTCCAAAGAACTAAGTAG	0.383																																						uc001szl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(616-618)GAA>AAA		acyl-CoA synthetase short-chain family member 3							159.0	138.0	145.0					12																	81528754		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81528754G>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.616G>A	12.37:g.81528754G>A	ENSP00000449535:p.Glu206Lys					ACSS3_uc001szm.1_Missense_Mutation_p.E205K	p.E206K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			3	707	+			206					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.616G>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805501	0.96967	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.48201	0.82;0.82	5.83	5.83	0.93111	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82548	-0.0402	10	0.87932	D	0	-35.4041	20.1162	0.97934	0.0:0.0:1.0:0.0	.	206	Q9H6R3	ACSS3_HUMAN	K	206;205	ENSP00000449535:E206K;ENSP00000261206:E205K	ENSP00000261206:E205K	E	+	1	0	ACSS3	80052885	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.796000	0.99103	2.757000	0.94681	0.563000	0.77884	GAA		PASS	0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		16	20	16	20	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81741342	81741342	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:81741342C>T	ENST00000549396.1	-	18	2362	c.2202G>A	c.(2200-2202)agG>agA	p.R734R	PPFIA2_ENST00000407050.4_Silent_p.R660R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.R716R|PPFIA2_ENST00000541570.2_Silent_p.R301R|PPFIA2_ENST00000550359.2_Silent_p.R581R|PPFIA2_ENST00000333447.7_Silent_p.R716R|PPFIA2_ENST00000550584.2_Silent_p.R734R|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Silent_p.R635R|PPFIA2_ENST00000552948.1_Silent_p.R734R|PPFIA2_ENST00000548586.1_Silent_p.R734R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	734					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R734R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATCCATTTCCCTGGCAGGGC	0.498																																						uc001szo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2200-2202)AGG>AGA		PTPRF interacting protein alpha 2							142.0	143.0	142.0					12																	81741342		1969	4152	6121	SO:0001819	synonymous_variant	8499							g.chr12:81741342C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2202G>A	12.37:g.81741342C>T						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron	p.R734R	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2363	-			660					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2202G>A	CCDS55857.1																																																																																				PASS	0.498	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			11	93	11	93	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81741515	81741515	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:81741515G>A	ENST00000549396.1	-	18	2189	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	PPFIA2_ENST00000407050.4_Missense_Mutation_p.R603C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R659C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R244C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R524C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R659C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R677C|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R578C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R677C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R677C	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	677					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R677C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTCAGCACGCAACTCTGTA	0.398																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2029-2031)CGT>TGT		PTPRF interacting protein alpha 2							93.0	94.0	94.0					12																	81741515		1890	4104	5994	SO:0001583	missense	8499							g.chr12:81741515G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2029C>T	12.37:g.81741515G>A	ENSP00000450337:p.Arg677Cys					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.R677C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			18	2190	-			603					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2029C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564154	0.86335	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.77550	-0.2546	10	0.72032	D	0.01	-12.3119	19.3523	0.94393	0.0:0.0:1.0:0.0	.	677	O75334	LIPA2_HUMAN	C	677;659;244;603;688;659;677;578;677;258	ENSP00000450337:R677C;ENSP00000450298:R659C;ENSP00000438337:R244C;ENSP00000385093:R603C;ENSP00000327416:R659C;ENSP00000449338:R677C;ENSP00000388373:R578C;ENSP00000447868:R677C;ENSP00000448941:R258C	ENSP00000327416:R659C	R	-	1	0	PPFIA2	80265646	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.784000	0.85713	2.635000	0.89317	0.650000	0.86243	CGT		PASS	0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			27	27	27	27	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85695207	85695207	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:85695207G>A	ENST00000316824.3	+	4	1090	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	312					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R312Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCAGTTCTTCGAATGAAAGCC	0.378																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(934-936)CGA>CAA		cartilage paired-class homeoprotein 1							89.0	86.0	87.0					12																	85695207		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85695207G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.935G>A	12.37:g.85695207G>A	ENSP00000315417:p.Arg312Gln						p.R312Q	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	939	+			312			OAR.		Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.935G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741584	0.89573	.	.	ENSG00000180318	ENST00000316824	D	0.99985	-11.94	6.17	6.17	0.99709	Paired-like homeodomain protein, OAR (2);	0.116529	0.64402	D	0.000012	D	0.99986	0.9997	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95649	0.8705	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	312	Q15699	ALX1_HUMAN	Q	312	ENSP00000315417:R312Q	ENSP00000315417:R312Q	R	+	2	0	ALX1	84219338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGA		PASS	0.378	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		30	32	30	32	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88512511	88512511	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:88512511G>A	ENST00000552810.1	-	16	1875	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L	CEP290_ENST00000309041.7_Missense_Mutation_p.P511L|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	511					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.P511L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTGTCTTTGGTTCAAGGCC	0.313																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(1531-1533)CCA>CTA		centrosomal protein 290kDa							94.0	87.0	89.0					12																	88512511		1814	4075	5889	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512511G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1532C>T	12.37:g.88512511G>A	ENSP00000448012:p.Pro511Leu					CEP290_uc001tat.2_Missense_Mutation_p.P273L|CEP290_uc009zsl.1_RNA	p.P511L	NM_025114	NP_079390	O15078	CE290_HUMAN			16	1876	-			511			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1532C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797319	0.50208	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.67523	-0.26;-0.27	5.8	5.8	0.92144	.	0.061993	0.64402	D	0.000003	T	0.74861	0.3772	M	0.68952	2.095	0.80722	D	1	B;P	0.50369	0.02;0.934	B;P	0.51016	0.052;0.656	T	0.70995	-0.4720	10	0.29301	T	0.29	.	20.0716	0.97726	0.0:0.0:1.0:0.0	.	511;511	Q05BJ6;O15078	.;CE290_HUMAN	L	511;511;511;413	ENSP00000448012:P511L;ENSP00000308021:P511L	ENSP00000308021:P511L	P	-	2	0	CEP290	87036642	1.000000	0.71417	0.964000	0.40570	0.909000	0.53808	6.951000	0.75983	2.741000	0.93983	0.585000	0.79938	CCA		PASS	0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		21	22	21	22	---	---	---	---
C12orf74	338809	broad.mit.edu	37	12	93100563	93100563	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:93100563G>A	ENST00000397833.3	+	2	607	c.156G>A	c.(154-156)agG>agA	p.R52R	C12orf74_ENST00000544406.2_Silent_p.R52R	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	52								p.R52R(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCACTTTGAGGAGATTAAGGA	0.627																																						uc001tch.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)AGG>AGA		hypothetical protein LOC338809							44.0	47.0	46.0					12																	93100563		1897	4107	6004	SO:0001819	synonymous_variant	338809							g.chr12:93100563G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.156G>A	12.37:g.93100563G>A						C12orf74_uc001tci.2_Silent_p.R52R	p.R52R	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			2	386	+			52					F5H4P0	Silent	SNP	ENST00000397833.3	37	c.156G>A	CCDS41819.1																																																																																				PASS	0.627	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		19	16	19	16	---	---	---	---
PLEKHG7	440107	broad.mit.edu	37	12	93147976	93147976	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:93147976G>A	ENST00000344636.3	+	6	610	c.426G>A	c.(424-426)agG>agA	p.R142R		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	142	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R142R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TCTGGAAAAGGAGCATGGACT	0.463																																						uc001tcj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(424-426)AGG>AGA		pleckstrin homology domain containing, family G							104.0	92.0	96.0					12																	93147976		2203	4300	6503	SO:0001819	synonymous_variant	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93147976G>A	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.426G>A	12.37:g.93147976G>A							p.R142R	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			6	656	+			142			DH.		B2RNR7	Silent	SNP	ENST00000344636.3	37	c.426G>A	CCDS31873.1																																																																																				PASS	0.463	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		21	30	21	30	---	---	---	---
CEP83	51134	broad.mit.edu	37	12	94806173	94806173	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:94806173G>T	ENST00000397809.5	-	3	643	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	CCDC41_ENST00000547575.1_Missense_Mutation_p.Q32K|CCDC41_ENST00000397807.2_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.Q32K	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		24					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.Q32K(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AACATTTTCTGGAACTCCGAC	0.378																																						uc001tdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)CAG>AAG		NY-REN-58 antigen							118.0	114.0	115.0					12																	94806173		1863	4115	5978	SO:0001583	missense	51134							g.chr12:94806173G>T																												ENST00000397809.5:c.94C>A	12.37:g.94806173G>T	ENSP00000380911:p.Gln32Lys					CCDC41_uc001tde.2_Missense_Mutation_p.Q32K|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.Q32K	p.Q32K	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			3	680	-			24					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.94C>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525776	0.64860	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000547575	T;T;T	0.63096	0.6;0.6;-0.02	5.67	5.67	0.87782	.	.	.	.	.	T	0.73869	0.3642	M	0.66939	2.045	0.80722	D	1	D;P	0.63046	0.992;0.933	P;P	0.54499	0.754;0.542	T	0.74754	-0.3558	9	0.56958	D	0.05	-11.0989	19.7524	0.96273	0.0:0.0:1.0:0.0	.	32;24	F8VYN8;Q9Y592	.;CCD41_HUMAN	K	32	ENSP00000344655:Q32K;ENSP00000380911:Q32K;ENSP00000448913:Q32K	ENSP00000344655:Q32K	Q	-	1	0	CCDC41	93330304	1.000000	0.71417	0.986000	0.45419	0.337000	0.28794	7.391000	0.79828	2.836000	0.97738	0.655000	0.94253	CAG		PASS	0.378	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			5	62	5	62	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97102582	97102582	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:97102582G>A	ENST00000524981.4	+	48	6747		c.e48+1					Q96N23	CL055_HUMAN										p.?(1)									AACTTGGAAGGTAATTGTTTT	0.348																																						uc001tet.1																			1	Unknown(1)		lung(1)	skin(6)|ovary(1)	7						c.e15+1		hypothetical protein LOC374467							52.0	53.0	53.0					12																	97102582		2203	4299	6502	SO:0001630	splice_region_variant	374467							g.chr12:97102582G>A																												ENST00000524981.4:c.6724+1G>A	12.37:g.97102582G>A							p.E667_splice	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			15	2077	+									Splice_Site	SNP	ENST00000524981.4	37	c.1999_splice		.	.	.	.	.	.	.	.	.	.	G	12.10	1.837132	0.32513	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.325	0.66512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95626713	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	4.546000	0.60705	2.519000	0.84933	0.555000	0.69702	.		PASS	0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Intron	4	24	4	24	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99446974	99446974	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:99446974C>T	ENST00000547776.2	-	17	2738	c.2739G>A	c.(2737-2739)atG>atA	p.M913I	ANKS1B_ENST00000547446.1_Missense_Mutation_p.M108I|ANKS1B_ENST00000550693.2_Missense_Mutation_p.M139I|ANKS1B_ENST00000549025.2_Missense_Mutation_p.M82I|ANKS1B_ENST00000549558.2_Missense_Mutation_p.M139I|ANKS1B_ENST00000549493.2_Missense_Mutation_p.M139I|ANKS1B_ENST00000546960.1_Missense_Mutation_p.M139I|ANKS1B_ENST00000546568.1_Missense_Mutation_p.M139I|ANKS1B_ENST00000329257.7_Missense_Mutation_p.M913I|ANKS1B_ENST00000332712.7_Missense_Mutation_p.M139I|ANKS1B_ENST00000547010.1_Missense_Mutation_p.M489I	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	913	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.M913I(1)|p.M139I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCAACAGGTCCATCGAAGTGT	0.403																																						uc001tge.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2737-2739)ATG>ATA		cajalin 2 isoform a							45.0	42.0	43.0					12																	99446974		1851	4104	5955	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99446974C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2739G>A	12.37:g.99446974C>T	ENSP00000449629:p.Met913Ile					ANKS1B_uc001tgf.1_Missense_Mutation_p.M489I|ANKS1B_uc001tgk.2_Missense_Mutation_p.M210I|ANKS1B_uc001tgd.1_Missense_Mutation_p.M139I|ANKS1B_uc001tgi.2_Missense_Mutation_p.M139I|ANKS1B_uc009ztr.2_Missense_Mutation_p.M139I|ANKS1B_uc001tgj.2_Missense_Mutation_p.M139I|ANKS1B_uc001tgg.3_Missense_Mutation_p.M82I|ANKS1B_uc010svg.1_Missense_Mutation_p.M108I|ANKS1B_uc009zts.1_Missense_Mutation_p.M139I|ANKS1B_uc001tgm.1_Missense_Mutation_p.M139I	p.M913I	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	17	3156	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	913			SAM 2.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2739G>A	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.376|5.376	0.254528|0.254528	0.10185|0.10185	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75|.	6.07|6.07	5.18|5.18	0.71444|0.71444	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.045198|.	0.85682|.	D|.	0.000000|.	T|.	0.36853|.	0.0982|.	N|N	0.12853|0.12853	0.265|0.265	0.43574|0.43574	D|D	0.995906|0.995906	B;B;B;B;B;B;B;B;B;B;B|.	0.15141|.	0.0;0.0;0.0;0.002;0.0;0.0;0.0;0.012;0.001;0.007;0.0|.	B;B;B;B;B;B;B;B;B;B;B|.	0.17098|.	0.0;0.002;0.001;0.005;0.001;0.01;0.001;0.016;0.012;0.017;0.009|.	T|.	0.22243|.	-1.0222|.	10|.	0.02654|.	T|.	1|.	-8.9409|-8.9409	9.3789|9.3789	0.38301|0.38301	0.1428:0.7855:0.0:0.0717|0.1428:0.7855:0.0:0.0717	.|.	108;139;139;139;127;139;139;82;489;913;139|.	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	I|X	139;913;489;913;488;139;82;139;108;139;139;75;139;139|185	ENSP00000448993:M139I;ENSP00000449629:M913I;ENSP00000448512:M489I;ENSP00000331381:M913I;ENSP00000447999:M139I;ENSP00000447312:M82I;ENSP00000448203:M139I;ENSP00000450015:M108I;ENSP00000448205:M139I;ENSP00000332683:M139I;ENSP00000447839:M139I|.	ENSP00000331381:M913I|.	M|W	-|-	3|2	0|0	ANKS1B|ANKS1B	97971105|97971105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.345000|3.345000	0.52182|0.52182	1.589000|1.589000	0.49982|0.49982	0.650000|0.650000	0.86243|0.86243	ATG|TGG		PASS	0.403	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		7	8	7	8	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042451	100042451	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:100042451G>A	ENST00000324341.1	+	1	921	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	167								p.E167K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGTTCACTGGGAAAACCTTGT	0.488																																						uc001tgn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GAA>AAA		hypothetical protein LOC196472							63.0	54.0	57.0					12																	100042451		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042451G>A		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.499G>A	12.37:g.100042451G>A	ENSP00000315247:p.Glu167Lys					ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.E167K	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	921	+			167					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.499G>A	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651994	0.67472	.	.	ENSG00000180219	ENST00000324341	T	0.18657	2.2	3.83	0.945	0.19543	.	0.287960	0.24271	N	0.039991	T	0.42017	0.1184	M	0.83384	2.64	0.24323	N	0.995035	D	0.89917	1.0	D	0.87578	0.998	T	0.14615	-1.0466	9	.	.	.	-22.2265	5.6938	0.17845	0.3573:0.0:0.6427:0.0	.	167	Q8NEG0	FA71C_HUMAN	K	167	ENSP00000315247:E167K	.	E	+	1	0	FAM71C	98566582	0.967000	0.33354	0.992000	0.48379	0.989000	0.77384	0.143000	0.16115	0.196000	0.20367	0.555000	0.69702	GAA		PASS	0.488	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		24	12	24	12	---	---	---	---
ACTR6	64431	broad.mit.edu	37	12	100603946	100603946	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:100603946C>T	ENST00000188312.2	+	5	1240	c.475C>T	c.(475-477)Cct>Tct	p.P159S	ACTR6_ENST00000551617.1_Missense_Mutation_p.P77S|ACTR6_ENST00000552376.1_Missense_Mutation_p.P159S|ACTR6_ENST00000546902.1_Missense_Mutation_p.P77S	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.P159S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						ACATATAGTTCCTTATTGTAG	0.323																																						uc001thb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CCT>TCT		ARP6 actin-related protein 6 homolog							111.0	112.0	111.0					12																	100603946		2203	4299	6502	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100603946C>T	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.475C>T	12.37:g.100603946C>T	ENSP00000188312:p.Pro159Ser					ACTR6_uc001thc.1_Missense_Mutation_p.P51S|ACTR6_uc001thd.1_Missense_Mutation_p.P159S|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.P77S|ACTR6_uc001thf.1_Missense_Mutation_p.P77S|uc001thg.1_Intron	p.P159S	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			5	531	+			159					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.475C>T	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119310	0.94385	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.2	5.2	0.72013	.	0.048175	0.85682	D	0.000000	D	0.98438	0.9480	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99050	1.0827	10	0.87932	D	0	.	19.2818	0.94054	0.0:1.0:0.0:0.0	.	77;159;159	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	S	171;159;77;159;77	ENSP00000448508:P171S;ENSP00000188312:P159S;ENSP00000448669:P77S;ENSP00000447237:P159S;ENSP00000448356:P77S	ENSP00000188312:P159S	P	+	1	0	ACTR6	99128077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.470000	0.80973	2.850000	0.98022	0.650000	0.86243	CCT		PASS	0.323	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		14	48	14	48	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100774480	100774480	+	Splice_Site	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:100774480A>T	ENST00000323346.5	+	2	416	c.103A>T	c.(103-105)Aaa>Taa	p.K35*	SLC17A8_ENST00000392989.3_Splice_Site_p.K35*	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	35					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.K35*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCCATGTAGAAAAATCGATGG	0.433																																						uc010svi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(103-105)AAA>TAA		solute carrier family 17 (sodium-dependent							78.0	86.0	83.0					12																	100774480		2203	4300	6503	SO:0001630	splice_region_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774480A>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.102-1A>T	12.37:g.100774480A>T						SLC17A8_uc009ztx.2_Nonsense_Mutation_p.K35*	p.K35*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			2	416	+			35			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Nonsense_Mutation	SNP	ENST00000323346.5	37	c.103A>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469100	0.63625	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	5.18	5.18	0.71444	.	0.361284	0.31734	N	0.007155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0645	0.71983	1.0:0.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000316909:K35X	K	+	1	0	SLC17A8	99298611	1.000000	0.71417	0.999000	0.59377	0.119000	0.20118	8.792000	0.91856	1.966000	0.57179	0.528000	0.53228	AAA		PASS	0.433	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	Nonsense_Mutation	10	81	10	81	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101018440	101018440	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:101018440C>T	ENST00000539410.1	+	9	2243	c.1857C>T	c.(1855-1857)ccC>ccT	p.P619P	GAS2L3_ENST00000537247.1_Silent_p.P515P|GAS2L3_ENST00000266754.5_Silent_p.P619P|GAS2L3_ENST00000547754.1_Silent_p.P619P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	619					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.P619P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGCCTACCCCAGTCTTCTA	0.517																																						uc001thu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1855-1857)CCC>CCT		growth arrest-specific 2 like 3							99.0	88.0	92.0					12																	101018440		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101018440C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1857C>T	12.37:g.101018440C>T						GAS2L3_uc009zty.2_Silent_p.P619P|GAS2L3_uc001thv.2_Silent_p.P515P	p.P619P	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	2083	+			619					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1857C>T	CCDS9079.1																																																																																				PASS	0.517	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		6	35	6	35	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603489	101603489	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:101603489C>T	ENST00000536262.2	-	1	696	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.L46L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGCCGCCCATCAGGAAGTCCT	0.662																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)CTG>CTA		solute carrier family 5 (iodide transporter),							43.0	41.0	42.0					12																	101603489		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603489C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.138G>A	12.37:g.101603489C>T							p.L46L	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	528	-			46			Cytoplasmic (Potential).			Silent	SNP	ENST00000536262.2	37	c.138G>A	CCDS9080.1																																																																																				PASS	0.662	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	20	4	20	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102038442	102038442	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:102038442C>T	ENST00000550270.1	+	10	758	c.758C>T	c.(757-759)gCt>gTt	p.A253V	MYBPC1_ENST00000551300.1_Splice_Site_p.A154V|MYBPC1_ENST00000541119.1_Splice_Site_p.A241V|MYBPC1_ENST00000360610.2_Splice_Site_p.A253V|MYBPC1_ENST00000549145.1_Splice_Site_p.A266V|MYBPC1_ENST00000536007.1_Splice_Site_p.A234V|MYBPC1_ENST00000441232.1_Splice_Site_p.A253V|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Splice_Site_p.A253V|MYBPC1_ENST00000361466.2_Splice_Site_p.A278V|MYBPC1_ENST00000392934.3_Splice_Site_p.A240V|MYBPC1_ENST00000547405.1_Splice_Site_p.A227V|MYBPC1_ENST00000545503.2_Splice_Site_p.A253V|MYBPC1_ENST00000361685.2_Splice_Site_p.A278V|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Splice_Site_p.A253V|MYBPC1_ENST00000547509.1_Splice_Site_p.A239V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	253	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A253V(1)|p.A278V(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTCTATCAGCTTTTGCAAAA	0.348																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(757-759)GCT>GTT		myosin binding protein C, slow type isoform 3							64.0	62.0	62.0					12																	102038442		2203	4300	6503	SO:0001630	splice_region_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102038442C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.758-1C>T	12.37:g.102038442C>T						MYBPC1_uc001tif.1_Missense_Mutation_p.A266V|MYBPC1_uc001tig.2_Missense_Mutation_p.A278V|MYBPC1_uc010svq.1_Missense_Mutation_p.A240V|MYBPC1_uc001tih.2_Missense_Mutation_p.A278V|MYBPC1_uc001tij.2_Missense_Mutation_p.A253V|MYBPC1_uc010svr.1_Missense_Mutation_p.A253V|MYBPC1_uc010svs.1_Missense_Mutation_p.A253V|MYBPC1_uc010svt.1_Missense_Mutation_p.A241V|MYBPC1_uc010svu.1_Missense_Mutation_p.A234V|MYBPC1_uc001tik.2_Missense_Mutation_p.A227V	p.A253V	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			10	860	+			253			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.758C>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947466	0.92593	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.2;0.18;0.17;0.19;0.19;0.15;0.19;0.18;0.2;0.16;0.26;0.17;0.19;0.22;0.19	5.7	5.7	0.88788	Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000131	T	0.79305	0.4423	M	0.83312	2.635	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999;0.998;0.999;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.994;0.998;0.994;0.998;0.998;0.994;0.997;0.999;0.99;0.997;0.999	T	0.79841	-0.1633	9	.	.	.	.	19.4511	0.94867	0.0:1.0:0.0:0.0	.	234;241;253;253;240;227;253;253;278;278;266	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	V	227;253;253;253;240;239;278;266;253;278;253;234;241;278;154;253	ENSP00000448175:A227V;ENSP00000400908:A253V;ENSP00000388989:A253V;ENSP00000353822:A253V;ENSP00000376665:A240V;ENSP00000447362:A239V;ENSP00000354845:A278V;ENSP00000447660:A266V;ENSP00000447900:A253V;ENSP00000440034:A253V;ENSP00000446128:A234V;ENSP00000442847:A241V;ENSP00000354849:A278V;ENSP00000447116:A154V;ENSP00000449702:A253V	.	A	+	2	0	MYBPC1	100562573	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.487000	0.81328	2.694000	0.91930	0.655000	0.94253	GCT		PASS	0.348	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		Missense_Mutation	4	33	4	33	---	---	---	---
IGF1	3479	broad.mit.edu	37	12	102869442	102869442	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:102869442C>T	ENST00000307046.8	-	2	380	c.199G>A	c.(199-201)Gga>Aga	p.G67R	IGF1_ENST00000392904.1_Missense_Mutation_p.G67R|IGF1_ENST00000337514.6_Missense_Mutation_p.G67R|IGF1_ENST00000456098.1_Missense_Mutation_p.G67R|IGF1_ENST00000424202.2_Missense_Mutation_p.G51R	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	67	B.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|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)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)	p.G67R(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCCCTGTCTCCACACACGAAC	0.562																																						uc001tjp.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(199-201)GGA>AGA		insulin-like growth factor 1 isoform 3							71.0	74.0	73.0					12																	102869442		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102869442C>T	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.199G>A	12.37:g.102869442C>T	ENSP00000302665:p.Gly67Arg					IGF1_uc001tjn.2_Missense_Mutation_p.G51R|IGF1_uc001tjm.2_Missense_Mutation_p.G67R|IGF1_uc001tjo.2_Missense_Mutation_p.G67R	p.G67R	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			2	418	-			67			B.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.199G>A	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890494	0.91889	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.34	5.34	0.76211	Insulin-like (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.80422	2.495	0.80722	D	1	D;D;P;P	0.89917	1.0;0.957;0.884;0.906	D;P;P;P	0.97110	1.0;0.71;0.571;0.67	D	0.95130	0.8254	10	0.87932	D	0	-30.4746	19.4046	0.94643	0.0:1.0:0.0:0.0	.	67;98;51;67	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	R	67;67;67;51;48;67	ENSP00000394999:G67R;ENSP00000337612:G67R;ENSP00000376637:G67R;ENSP00000416811:G51R;ENSP00000376638:G48R;ENSP00000302665:G67R	ENSP00000302665:G67R	G	-	1	0	IGF1	101393572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.657000	0.90304	0.655000	0.94253	GGA		PASS	0.562	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		14	45	14	45	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104063394	104063394	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:104063394G>A	ENST00000388887.2	+	21	2452	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.G750R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGCTCAGGAAATGGACA	0.413																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(2248-2250)GGA>AGA		stabilin 2 precursor							104.0	102.0	103.0					12																	104063394		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104063394G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2248G>A	12.37:g.104063394G>A	ENSP00000373539:p.Gly750Arg						p.G750R	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			21	2434	+			750			Extracellular (Potential).|EGF-like 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2248G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158732	0.38119	.	.	ENSG00000136011	ENST00000388887	D	0.87256	-2.23	5.44	3.51	0.40186	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.340299	0.30593	N	0.009296	D	0.84338	0.5450	M	0.80508	2.5	0.31550	N	0.658894	P	0.35050	0.482	B	0.30029	0.11	T	0.81690	-0.0818	10	0.38643	T	0.18	.	8.45	0.32864	0.0796:0.2989:0.6215:0.0	.	750	Q8WWQ8	STAB2_HUMAN	R	750	ENSP00000373539:G750R	ENSP00000373539:G750R	G	+	1	0	STAB2	102587524	1.000000	0.71417	0.356000	0.25785	0.857000	0.48899	4.760000	0.62235	0.601000	0.29879	0.650000	0.86243	GGA		PASS	0.413	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	28	19	28	---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108589759	108589759	+	Silent	SNP	G	G	A	rs367680277		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:108589759G>A	ENST00000332082.4	+	3	968	c.150G>A	c.(148-150)gcG>gcA	p.A50A	WSCD2_ENST00000261400.3_Silent_p.A50A|WSCD2_ENST00000547525.1_Silent_p.A50A|WSCD2_ENST00000549903.1_Silent_p.A50A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	50						integral component of membrane (GO:0016021)		p.A50A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCAGGCGAACCCCGCTG	0.607																																						uc001tms.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(148-150)GCG>GCA		WSC domain containing 2		G		0,4086		0,0,2043	104.0	110.0	108.0		150	2.0	0.9	12		108	1,8383		0,1,4191	no	coding-synonymous	WSCD2	NM_014653.2		0,1,6234	AA,AG,GG		0.0119,0.0,0.0080		50/566	108589759	1,12469	2043	4192	6235	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589759G>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.150G>A	12.37:g.108589759G>A						WSCD2_uc001tmt.2_Silent_p.A50A	p.A50A	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	894	+			50					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.150G>A	CCDS41828.1																																																																																				PASS	0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		17	76	17	76	---	---	---	---
TMEM119	338773	broad.mit.edu	37	12	108985911	108985911	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:108985911G>A	ENST00000392806.3	-	2	417	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	83					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F83F(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCCATCCAGGAAGTTGGTGG	0.652																																						uc001tng.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)TTC>TTT		transmembrane protein 119 precursor							77.0	79.0	78.0					12																	108985911		2203	4300	6503	SO:0001819	synonymous_variant	338773					integral to membrane		g.chr12:108985911G>A	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.249C>T	12.37:g.108985911G>A						TMEM119_uc001tnf.2_RNA	p.F83F	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN			2	412	-			83			Extracellular (Potential).		Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	c.249C>T	CCDS9119.1																																																																																				PASS	0.652	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		8	25	8	25	---	---	---	---
SVOP	55530	broad.mit.edu	37	12	109306389	109306389	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:109306389C>T	ENST00000299134.5	-	14	1372	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	RP11-423G4.7_ENST00000569754.1_lincRNA	NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)	p.R458Q(2)		breast(2)|lung(4)	6						GGCCCCACTCCCGGTGGCTGG	0.617																																						uc010sxh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1567-1569)CGG>CGA		SV2 related protein							111.0	122.0	119.0					12																	109306389		2091	4214	6305	SO:0001583	missense	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109306389C>T	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.1373G>A	12.37:g.109306389C>T	ENSP00000299134:p.Gly458Glu						p.R523R	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			15	1741	-			523			Cytoplasmic (Potential).		Q9NPW5	Silent	SNP	ENST00000299134.5	37	c.1569G>A		.	.	.	.	.	.	.	.	.	.	C	10.36	1.327622	0.24080	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.61	2.63	0.31362	.	.	.	.	.	T	0.40522	0.1120	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47484	-0.9114	3	.	.	.	-21.3398	6.0	0.19515	0.0:0.5284:0.2599:0.2117	.	.	.	.	E	458	.	.	G	-	2	0	SVOP	107830518	0.443000	0.25641	1.000000	0.80357	0.991000	0.79684	-0.249000	0.08842	0.691000	0.31592	0.563000	0.77884	GGG		PASS	0.617	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		22	72	22	72	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109677647	109677647	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:109677647G>A	ENST00000338432.7	+	35	4794	c.4675G>A	c.(4675-4677)Gaa>Aaa	p.E1559K	ACACB_ENST00000377848.3_Missense_Mutation_p.E1559K|ACACB_ENST00000543201.1_Missense_Mutation_p.E225K|ACACB_ENST00000377854.5_Missense_Mutation_p.E1489K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1559					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E1559K(1)|p.E225K(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCCTCCTTCGAATACCTGCA	0.622																																						uc001tob.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(4675-4677)GAA>AAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						51.0	42.0	45.0					12																	109677647		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109677647G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4675G>A	12.37:g.109677647G>A	ENSP00000341044:p.Glu1559Lys					ACACB_uc001toc.2_Missense_Mutation_p.E1559K|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E225K	p.E1559K	NM_001093	NP_001084	O00763	ACACB_HUMAN			35	4794	+			1559					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4675G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603638	0.87157	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.01	3.1	0.35709	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	M	0.90309	3.105	0.58432	D	0.999999	D	0.76494	0.999	D	0.68765	0.96	T	0.77202	-0.2674	10	0.52906	T	0.07	.	13.6294	0.62186	0.0:0.0:0.8435:0.1565	.	1559	O00763	ACACB_HUMAN	K	1559;1559;1489;790;225	ENSP00000341044:E1559K;ENSP00000367079:E1559K;ENSP00000367085:E1489K;ENSP00000444075:E225K	ENSP00000341044:E1559K	E	+	1	0	ACACB	108162030	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.607000	0.98328	0.980000	0.38523	0.561000	0.74099	GAA		PASS	0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		10	7	10	7	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109696794	109696794	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:109696794G>A	ENST00000338432.7	+	47	6496	c.6377G>A	c.(6376-6378)gGa>gAa	p.G2126E	ACACB_ENST00000377848.3_Missense_Mutation_p.G2126E|ACACB_ENST00000543201.1_Missense_Mutation_p.G792E|ACACB_ENST00000377854.5_Missense_Mutation_p.G2056E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2126	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.G792E(1)|p.G2126E(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CAGCAGGCAGGACAGGTGTGG	0.582											OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc001tob.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(6376-6378)GGA>GAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						140.0	140.0	140.0					12																	109696794		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696794G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6377G>A	12.37:g.109696794G>A	ENSP00000341044:p.Gly2126Glu		OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1421	ACACB_uc001toc.2_Missense_Mutation_p.G2126E|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.G792E	p.G2126E	NM_001093	NP_001084	O00763	ACACB_HUMAN			47	6496	+			2126			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6377G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710953	0.89112	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.99907	-7.8;-7.8;-7.8;-7.8	4.92	4.92	0.64577	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96041	0.9024	10	0.87932	D	0	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	2126	O00763	ACACB_HUMAN	E	2126;2126;2056;1357;792	ENSP00000341044:G2126E;ENSP00000367079:G2126E;ENSP00000367085:G2056E;ENSP00000444075:G792E	ENSP00000341044:G2126E	G	+	2	0	ACACB	108181177	1.000000	0.71417	0.996000	0.52242	0.572000	0.35998	9.675000	0.98638	2.677000	0.91161	0.561000	0.74099	GGA		PASS	0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		27	131	27	131	---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109724543	109724543	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:109724543C>T	ENST00000299162.5	-	7	707	c.603G>A	c.(601-603)ctG>ctA	p.L201L	FOXN4_ENST00000355216.1_Silent_p.L21L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	201					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201L(1)|p.L21L(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCATGGCGATCAGACAGCTGG	0.622																																						uc001toe.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(601-603)CTG>CTA		forkhead box N4							64.0	49.0	54.0					12																	109724543		2203	4300	6503	SO:0001819	synonymous_variant	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109724543C>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.603G>A	12.37:g.109724543C>T						FOXN4_uc009zvg.2_5'UTR|FOXN4_uc001tof.3_Silent_p.L21L	p.L201L	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			7	708	-			201			Fork-head.		Q6ZMR4|Q96NZ0	Silent	SNP	ENST00000299162.5	37	c.603G>A	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734199	0.48939	.	.	ENSG00000139445	ENST00000266856	.	.	.	4.4	1.25	0.21368	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32161	-0.9917	4	.	.	.	-10.3192	3.3029	0.06989	0.2242:0.4168:0.2688:0.0901	.	.	.	.	N	160	.	.	D	-	1	0	FOXN4	108208926	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.333000	0.19768	0.948000	0.37687	0.491000	0.48974	GAT		PASS	0.622	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		8	10	8	10	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111744784	111744784	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:111744784G>A	ENST00000261726.6	+	11	1072	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	306					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.K306K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGCCTCCAAGGACAGGGAGA	0.642																																						uc001tsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(916-918)AAG>AAA		cut-like 2							54.0	58.0	57.0					12																	111744784		1932	4135	6067	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744784G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.918G>A	12.37:g.111744784G>A							p.K306K	NM_015267	NP_056082	O14529	CUX2_HUMAN			11	1071	+			306			Potential.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.918G>A	CCDS41837.1																																																																																				PASS	0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		15	21	15	21	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111779756	111779756	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:111779756C>T	ENST00000261726.6	+	21	3712	c.3558C>T	c.(3556-3558)gcC>gcT	p.A1186A	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1186					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A1186A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCGGAAGGCCTATCAGCTGG	0.622																																						uc001tsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(3556-3558)GCC>GCT		cut-like 2							68.0	83.0	78.0					12																	111779756		2185	4299	6484	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111779756C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3558C>T	12.37:g.111779756C>T							p.A1186A	NM_015267	NP_056082	O14529	CUX2_HUMAN			21	3711	+			1186			Homeobox.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3558C>T	CCDS41837.1																																																																																				PASS	0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		15	24	15	24	---	---	---	---
CUX2	23316	broad.mit.edu	37	12	111785937	111785937	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:111785937C>T	ENST00000261726.6	+	22	4423	c.4269C>T	c.(4267-4269)tcC>tcT	p.S1423S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1423	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S1423S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTCCCCATCCCCACCTGGCG	0.657																																						uc001tsa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(4267-4269)TCC>TCT		cut-like 2							44.0	54.0	50.0					12																	111785937		2081	4198	6279	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785937C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4269C>T	12.37:g.111785937C>T							p.S1423S	NM_015267	NP_056082	O14529	CUX2_HUMAN			22	4422	+			1423			Pro-rich.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.4269C>T	CCDS41837.1																																																																																				PASS	0.657	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	29	7	29	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112147356	112147356	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:112147356C>T	ENST00000313698.4	+	5	713	c.558C>T	c.(556-558)atC>atT	p.I186I	ACAD10_ENST00000549590.1_Silent_p.I186I|ACAD10_ENST00000455480.2_Silent_p.I186I|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	186						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.I186I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGAAGGGATCTGTAAGCCAG	0.498																																						uc001tsq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(556-558)ATC>ATT		acyl-Coenzyme A dehydrogenase family, member 10							59.0	56.0	57.0					12																	112147356		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112147356C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.558C>T	12.37:g.112147356C>T						ACAD10_uc009zvw.2_Silent_p.I186I|ACAD10_uc001tso.3_Silent_p.I186I|ACAD10_uc001tsp.2_Silent_p.I186I|ACAD10_uc009zvx.2_Silent_p.I186I|ACAD10_uc001tsr.2_5'Flank	p.I186I	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			5	758	+			186					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.558C>T	CCDS31903.1																																																																																				PASS	0.498	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		7	18	7	18	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112184986	112184986	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:112184986C>T	ENST00000313698.4	+	15	2545	c.2390C>T	c.(2389-2391)cCc>cTc	p.P797L	ACAD10_ENST00000455480.2_Missense_Mutation_p.P828L|ACAD10_ENST00000392636.2_Missense_Mutation_p.P399L|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	797						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.P797L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGACCGAGCCCCAGGTACGT	0.622																																						uc001tsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2389-2391)CCC>CTC		acyl-Coenzyme A dehydrogenase family, member 10							55.0	49.0	51.0					12																	112184986		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112184986C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2390C>T	12.37:g.112184986C>T	ENSP00000325137:p.Pro797Leu					ACAD10_uc001tsp.2_Missense_Mutation_p.P797L|ACAD10_uc009zvx.2_Missense_Mutation_p.P828L|ACAD10_uc001tss.1_RNA	p.P797L	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			15	2590	+			797			FAD (By similarity).		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2390C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036605	0.93630	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.96992	-4.2;-4.2;-4.2	5.83	5.83	0.93111	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99155	0.9708	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	D	0.98786	1.0734	10	0.87932	D	0	.	18.8939	0.92416	0.0:1.0:0.0:0.0	.	828;797;797	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	L	399;797;828;797	ENSP00000376411:P399L;ENSP00000389813:P828L;ENSP00000325137:P797L	ENSP00000325137:P797L	P	+	2	0	ACAD10	110669369	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.919000	0.63383	2.763000	0.94921	0.655000	0.94253	CCC		PASS	0.622	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		13	12	13	12	---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113355404	113355404	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:113355404C>T	ENST00000202917.5	+	5	1200	c.937C>T	c.(937-939)Cca>Tca	p.P313S	OAS1_ENST00000452357.2_Missense_Mutation_p.P313S|OAS1_ENST00000551241.1_Missense_Mutation_p.P313S|OAS1_ENST00000445409.2_Missense_Mutation_p.P313S|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	313					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.P313S(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGGTGGAGACCCAAAGGGTTG	0.577																																						uc001tud.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(937-939)CCA>TCA		2',5'-oligoadenylate synthetase 1 isoform 1							111.0	118.0	116.0					12																	113355404		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113355404C>T	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.937C>T	12.37:g.113355404C>T	ENSP00000202917:p.Pro313Ser					OAS1_uc001tub.2_Missense_Mutation_p.P313S|OAS1_uc001tuc.2_Missense_Mutation_p.P313S|OAS1_uc009zwf.2_Missense_Mutation_p.P312S	p.P313S	NM_016816	NP_058132	P00973	OAS1_HUMAN			5	1043	+			313					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.937C>T	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929158	0.18131	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000553152	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.85	-0.88	0.10610	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.378830	0.04842	N	0.440615	T	0.34221	0.0890	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.23249	0.002;0.005;0.082;0.009	B;B;B;B	0.28139	0.004;0.063;0.086;0.037	T	0.25328	-1.0135	10	0.09084	T	0.74	4.2374	7.8082	0.29215	0.6164:0.3005:0.0:0.0831	.	313;313;313;313	F8VXY3;P00973;P00973-3;P00973-2	.;OAS1_HUMAN;.;.	S	313;313;313;313;313;59	ENSP00000202917:P313S;ENSP00000388001:P313S;ENSP00000415721:P313S;ENSP00000448790:P313S;ENSP00000449053:P59S	ENSP00000202917:P313S	P	+	1	0	OAS1	111839787	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	-5.358000	0.00128	-0.086000	0.12550	-0.122000	0.15005	CCA		PASS	0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			20	73	20	73	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113543661	113543661	+	Missense_Mutation	SNP	G	G	A	rs199548072		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:113543661G>A	ENST00000261729.5	-	17	2000	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	RASAL1_ENST00000548055.1_Missense_Mutation_p.P563L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.P564L|RASAL1_ENST00000446861.3_Missense_Mutation_p.P562L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	562					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P562L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCCGAGGGCGGGAACAGGGC	0.622																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1684-1686)CCG>CTG		RAS protein activator like 1							56.0	61.0	60.0					12																	113543661		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113543661G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1685C>T	12.37:g.113543661G>A	ENSP00000261729:p.Pro562Leu					RASAL1_uc010syp.1_Missense_Mutation_p.P563L|RASAL1_uc001tul.2_Missense_Mutation_p.P562L|RASAL1_uc001tun.1_Missense_Mutation_p.P564L|RASAL1_uc010syq.1_Missense_Mutation_p.P563L|RASAL1_uc001tuo.3_Missense_Mutation_p.P563L	p.P562L	NM_004658	NP_004649	O95294	RASL1_HUMAN			17	1978	-			562					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1685C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	0.641	-0.813203	0.02798	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.21	4.29	0.51040	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	1.091960	0.06914	N	0.808159	T	0.11196	0.0273	N	0.20530	0.585	0.09310	N	1	B;B;B;B;B;B	0.14012	0.002;0.005;0.005;0.002;0.001;0.009	B;B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.001;0.002	T	0.33497	-0.9866	10	0.30078	T	0.28	.	11.3416	0.49535	0.0:0.0:0.5477:0.4523	.	563;563;576;564;562;562	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	L	564;562;562;563	ENSP00000450244:P564L;ENSP00000261729:P562L;ENSP00000395920:P562L;ENSP00000448510:P563L	ENSP00000261729:P562L	P	-	2	0	RASAL1	112028044	0.949000	0.32298	0.004000	0.12327	0.023000	0.10783	1.477000	0.35431	1.136000	0.42199	0.455000	0.32223	CCG		PASS	0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		13	17	13	17	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115118751	115118751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:115118751C>T	ENST00000257566.3	-	2	979	c.590G>A	c.(589-591)tGg>tAg	p.W197*	TBX3_ENST00000349155.2_Nonsense_Mutation_p.W197*	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	197					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W197*(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTTGGACATCCACTGTTCCCC	0.453																																						uc001tvt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(589-591)TGG>TAG		T-box 3 protein isoform 2							130.0	124.0	126.0					12																	115118751		2203	4300	6503	SO:0001587	stop_gained	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115118751C>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.590G>A	12.37:g.115118751C>T	ENSP00000257566:p.Trp197*					TBX3_uc001tvu.1_Nonsense_Mutation_p.W197*|TBX3_uc010syw.1_Nonsense_Mutation_p.W197*	p.W197*	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1554	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		197			T-box; first part.		Q8TB20|Q9UKF8	Nonsense_Mutation	SNP	ENST00000257566.3	37	c.590G>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	47	13.230394	0.99728	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000257566:W197X	W	-	2	0	TBX3	113603134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	TGG		PASS	0.453	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		31	38	31	38	---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117448145	117448146	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:117448145_117448146GG>TA	ENST00000309909.5	+	8	1339_1340	c.1257_1258GG>TA	c.(1255-1260)ctGGaa>ctTAaa	p.E420K	FBXW8_ENST00000455858.2_Missense_Mutation_p.E354K			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	420					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.E420K(2)|p.L419L(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TGTATAGCCTGGAAGCAGGACG	0.535																																						uc001twg.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|pancreas(1)	3						c.(1255-1257)CTG>CTT|c.(1258-1260)GAA>AAA		F-box and WD repeat domain containing 8 isoform																																				SO:0001583	missense	26259						protein binding	g.chr12:117448145G>T|g.chr12:117448146G>A	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	Exception_encountered	12.37:g.117448145_117448146delinsTA	ENSP00000310686:p.Glu420Lys					FBXW8_uc001twf.1_Silent_p.L353L|FBXW8_uc009zwp.1_RNA|FBXW8_uc001twf.1_Missense_Mutation_p.E354K|FBXW8_uc009zwp.1_RNA	p.L419L|p.E420K	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	8	1339|1340	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		419|420					Q9UK95	Silent|Missense_Mutation	SNP	ENST00000309909.5	37	c.1257G>T|c.1258G>A	CCDS9182.1																																																																																				PASS	0.535	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		25|24	30|32	24	30	---	---	---	---
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	C	T	rs569559960		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:117465849C>T	ENST00000309909.5	+	11	1751	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	FBXW8_ENST00000455858.2_Missense_Mutation_p.R491C			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	557					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.R557C(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17496	0.0		0.0	False		,,,				2504	0.001					uc001twg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1669-1671)CGC>TGC		F-box and WD repeat domain containing 8 isoform							97.0	74.0	81.0					12																	117465849		2203	4300	6503	SO:0001583	missense	26259						protein binding	g.chr12:117465849C>T	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1669C>T	12.37:g.117465849C>T	ENSP00000310686:p.Arg557Cys					FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA	p.R557C	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	11	1751	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		557					Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	c.1669C>T	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162621	0.38217	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.09817	2.99;2.94	4.93	3.08	0.35506	.	0.408444	0.30528	N	0.009438	T	0.06416	0.0165	N	0.20685	0.6	0.30803	N	0.739653	B;B	0.17268	0.012;0.021	B;B	0.08055	0.003;0.002	T	0.10314	-1.0635	10	0.36615	T	0.2	-7.0038	7.3007	0.26418	0.0:0.6839:0.0:0.3161	.	557;491	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	C	557;491;491	ENSP00000310686:R557C;ENSP00000389144:R491C	ENSP00000310686:R557C	R	+	1	0	FBXW8	115950232	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	1.943000	0.40253	1.062000	0.40625	0.591000	0.81541	CGC		PASS	0.622	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		8	19	8	19	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119419693	119419693	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:119419693G>A	ENST00000267260.4	+	1	394	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	2					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.A2A(2)|p.A99A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGGCGATGGCGAGCGTTCAGC	0.627																																						uc001txa.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(4-6)GCG>GCA		KIAA1853 protein							22.0	24.0	23.0					12																	119419693		1905	4103	6008	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119419693G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.6G>A	12.37:g.119419693G>A							p.A2A	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			1	298	+			2					A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.6G>A	CCDS44994.1																																																																																				PASS	0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		7	10	7	10	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120288021	120288021	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:120288021G>A	ENST00000261833.7	-	5	525	c.473C>T	c.(472-474)cCc>cTc	p.P158L	CIT_ENST00000392521.2_Missense_Mutation_p.P158L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P158L(2)|p.P159L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGTAATTGGGGGATCCACGG	0.413																																						uc001txi.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(472-474)CCC>CTC		citron							262.0	267.0	265.0					12																	120288021		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120288021G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.473C>T	12.37:g.120288021G>A	ENSP00000261833:p.Pro158Leu					CIT_uc001txj.1_Missense_Mutation_p.P158L	p.P158L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	5	526	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	158			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.473C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279131	0.80692	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.37411	1.2;1.2;3.25	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.28067	0.0692	N	0.02181	-0.65	0.80722	D	1	P;P	0.50066	0.931;0.51	P;P	0.53185	0.681;0.72	T	0.45498	-0.9257	10	0.32370	T	0.25	.	18.9199	0.92520	0.0:0.0:1.0:0.0	.	158;158	Q2M5E1;O14578	.;CTRO_HUMAN	L	158;158;75	ENSP00000376306:P158L;ENSP00000261833:P158L;ENSP00000443199:P75L	ENSP00000261833:P158L	P	-	2	0	CIT	118772404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.593000	0.98250	2.470000	0.83445	0.655000	0.94253	CCC		PASS	0.413	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		107	111	107	111	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120597799	120597799	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:120597799C>T	ENST00000300648.6	-	24	2591	c.2579G>A	c.(2578-2580)gGa>gAa	p.G860E		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	860					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.G860E(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCAGCAGTCCAAGCGCCGC	0.602																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2578-2580)GGA>GAA		GCN1 general control of amino-acid synthesis							69.0	80.0	77.0					12																	120597799		2077	4220	6297	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120597799C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2579G>A	12.37:g.120597799C>T	ENSP00000300648:p.Gly860Glu						p.G860E	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			24	2592	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		860					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.2579G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490470	0.64074	.	.	ENSG00000089154	ENST00000300648	T	0.04360	3.64	6.17	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.100632	0.64402	D	0.000002	T	0.06325	0.0163	L	0.42245	1.32	0.80722	D	1	B	0.19445	0.036	B	0.17979	0.02	T	0.29397	-1.0013	10	0.12766	T	0.61	.	17.8015	0.88589	0.0:0.8782:0.1218:0.0	.	860	Q92616	GCN1L_HUMAN	E	860	ENSP00000300648:G860E	ENSP00000300648:G860E	G	-	2	0	GCN1L1	119082182	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	5.512000	0.67030	1.596000	0.50062	0.655000	0.94253	GGA		PASS	0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			8	29	8	29	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120616465	120616465	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:120616465G>A	ENST00000300648.6	-	7	635	c.623C>T	c.(622-624)aCg>aTg	p.T208M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	208					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.T208M(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGTGACTCGTGCAGAACTG	0.572																																						uc001txo.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(622-624)ACG>ATG		GCN1 general control of amino-acid synthesis							118.0	120.0	119.0					12																	120616465		2110	4234	6344	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120616465G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.623C>T	12.37:g.120616465G>A	ENSP00000300648:p.Thr208Met						p.T208M	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			7	636	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		208					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.623C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830992	0.50845	.	.	ENSG00000089154	ENST00000300648	T	0.00700	5.82	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.100418	0.64402	D	0.000002	T	0.00936	0.0031	L	0.43152	1.355	0.58432	D	0.999999	B	0.30851	0.297	B	0.13407	0.009	T	0.71520	-0.4568	10	0.35671	T	0.21	0.2506	13.0652	0.59030	0.0735:0.0:0.9265:0.0	.	208	Q92616	GCN1L_HUMAN	M	208	ENSP00000300648:T208M	ENSP00000300648:T208M	T	-	2	0	GCN1L1	119100848	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	5.938000	0.70170	2.692000	0.91855	0.563000	0.77884	ACG		PASS	0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			24	26	24	26	---	---	---	---
CABP1	9478	broad.mit.edu	37	12	121098004	121098004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:121098004C>T	ENST00000316803.3	+	3	825	c.691C>T	c.(691-693)Cga>Tga	p.R231*	CABP1_ENST00000453000.1_Nonsense_Mutation_p.R167*|CABP1_ENST00000351200.2_Nonsense_Mutation_p.R28*|CABP1_ENST00000288616.3_Nonsense_Mutation_p.R88*	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	231	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)	p.R88*(1)|p.R231*(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCAGAGCTCCGAGAGGCCTT	0.592																																						uc001tyu.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(691-693)CGA>TGA		calcium binding protein 1 isoform 3							90.0	84.0	86.0					12																	121098004		2203	4300	6503	SO:0001587	stop_gained	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121098004C>T	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.691C>T	12.37:g.121098004C>T	ENSP00000317310:p.Arg231*					CABP1_uc001tyv.2_Nonsense_Mutation_p.R88*|CABP1_uc001tyw.2_Nonsense_Mutation_p.R28*|CABP1_uc001tyx.2_Nonsense_Mutation_p.R73*	p.R231*	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN			3	758	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		231			EF-hand 1.		O95663|Q8N6H5|Q9NZU8	Nonsense_Mutation	SNP	ENST00000316803.3	37	c.691C>T	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	C	41	8.629198	0.98892	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	.	.	.	5.28	3.25	0.37280	.	0.056697	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-6.9951	12.9595	0.58449	0.4462:0.5538:0.0:0.0	.	.	.	.	X	231;88;28;167	.	ENSP00000288616:R88X	R	+	1	2	CABP1	119582387	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.646000	0.37249	1.210000	0.43336	0.579000	0.79373	CGA		PASS	0.592	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		7	51	7	51	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134306	121134306	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:121134306C>T	ENST00000228506.3	+	5	1265	c.837C>T	c.(835-837)ttC>ttT	p.F279F	MLEC_ENST00000535413.1_3'UTR|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Missense_Mutation_p.S201L|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	279					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.F279F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGGTGGCCTTCGGAGTCTTCA	0.542																																						uc001tyy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(835-837)TTC>TTT		malectin precursor							185.0	174.0	178.0					12																	121134306		2203	4300	6503	SO:0001819	synonymous_variant	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134306C>T	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.837C>T	12.37:g.121134306C>T							p.F279F	NM_014730	NP_055545	Q14165	MLEC_HUMAN			5	988	+			279			Helical; (Potential).			Silent	SNP	ENST00000228506.3	37	c.837C>T	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935197	0.34189	.	.	ENSG00000110917	ENST00000412616	.	.	.	5.43	-7.32	0.01436	.	.	.	.	.	T	0.52773	0.1755	.	.	.	0.30582	N	0.762447	.	.	.	.	.	.	T	0.64175	-0.6469	5	0.72032	D	0.01	.	13.0739	0.59077	0.0:0.4633:0.0:0.5367	.	.	.	.	L	201	.	ENSP00000440746:S201L	S	+	2	0	MLEC	119618689	0.132000	0.22450	0.903000	0.35520	0.993000	0.82548	-0.615000	0.05597	-1.253000	0.02488	-0.440000	0.05779	TCG		PASS	0.542	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		83	84	83	84	---	---	---	---
UNC119B	84747	broad.mit.edu	37	12	121154450	121154451	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:121154450_121154451GG>AA	ENST00000344651.4	+	3	418_419	c.378_379GG>AA	c.(376-381)gaGGag>gaAAag	p.E127K		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	127					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)	p.E127K(2)|p.E126E(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGATGAGGAGGAGGGAGGTGG	0.545																																						uc001tyz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	haematopoietic_and_lymphoid_tissue(1)	1						c.(376-378)GAG>GAA|c.(379-381)GAG>AAG		unc-119 homolog B																																				SO:0001583	missense	84747							g.chr12:121154450G>A|g.chr12:121154451G>A		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	Exception_encountered	12.37:g.121154450_121154451delinsAA	ENSP00000344942:p.Glu127Lys						p.E126E|p.E127K	NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN			3	825|826	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		126|127						Silent|Missense_Mutation	SNP	ENST00000344651.4	37	c.378G>A|c.379G>A	CCDS31914.1																																																																																				PASS	0.545	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		47|48	81	47	81	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121947413	121947413	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:121947413G>A	ENST00000377071.4	-	11	1676	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.P418L|KDM2B_ENST00000538046.2_Missense_Mutation_p.P445L|KDM2B_ENST00000377069.4_Missense_Mutation_p.P504L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	535					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.P535L(1)|p.P174L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GATGCCCTCGGGGACACACTT	0.627																																						uc001uat.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1603-1605)CCC>CTC		F-box and leucine-rich repeat protein 10 isoform							44.0	47.0	46.0					12																	121947413		1946	4133	6079	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947413G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1604C>T	12.37:g.121947413G>A	ENSP00000366271:p.Pro535Leu					KDM2B_uc001uar.2_Missense_Mutation_p.P126L|KDM2B_uc001uas.2_Missense_Mutation_p.P504L|KDM2B_uc001uau.2_Missense_Mutation_p.P418L|KDM2B_uc001uav.3_Missense_Mutation_p.P445L	p.P535L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			11	1708	-			535					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1604C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828054	0.90955	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152	T;T;T;T	0.80480	-0.4;-1.09;-1.29;-1.38	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000032	D	0.89424	0.6711	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.996;0.996	D	0.90453	0.4440	10	0.87932	D	0	-11.4643	18.7985	0.92007	0.0:0.0:1.0:0.0	.	535;418;535;504	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	L	535;504;535;418;535;535;498	ENSP00000366269:P504L;ENSP00000366271:P535L;ENSP00000445196:P418L;ENSP00000398279:P498L	ENSP00000261824:P535L	P	-	2	0	KDM2B	120431796	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	9.476000	0.97823	2.531000	0.85337	0.591000	0.81541	CCC		PASS	0.627	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		7	30	7	30	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121986815	121986815	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:121986815G>A	ENST00000377071.4	-	6	722	c.650C>T	c.(649-651)gCc>gTc	p.A217V	KDM2B_ENST00000536437.1_Missense_Mutation_p.A100V|KDM2B_ENST00000538046.2_Missense_Mutation_p.A217V|KDM2B_ENST00000377069.4_Missense_Mutation_p.A186V	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	217	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.A217V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCTGCAATGGCGTTCGTGGC	0.577																																						uc001uat.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)GCC>GTC		F-box and leucine-rich repeat protein 10 isoform							185.0	195.0	191.0					12																	121986815		2051	4205	6256	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121986815G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.650C>T	12.37:g.121986815G>A	ENSP00000366271:p.Ala217Val					KDM2B_uc001uas.2_Missense_Mutation_p.A186V|KDM2B_uc001uau.2_Missense_Mutation_p.A100V|KDM2B_uc001uav.3_Missense_Mutation_p.A217V	p.A217V	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			6	754	-			217			JmjC.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.650C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024421	0.35701	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000539394;ENST00000539371	T;T;T;T	0.47869	2.42;1.82;0.83;0.83	5.11	4.14	0.48551	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.219738	0.31709	N	0.007186	T	0.33381	0.0861	L	0.33485	1.01	0.33976	D	0.647364	B;B;B;B	0.11235	0.001;0.0;0.004;0.0	B;B;B;B	0.15052	0.012;0.001;0.004;0.001	T	0.33548	-0.9864	10	0.19147	T	0.46	-31.9698	10.4537	0.44537	0.1589:0.0:0.8411:0.0	.	217;100;217;186	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	V	217;186;217;100;217;217;180;100;186	ENSP00000366269:A186V;ENSP00000366271:A217V;ENSP00000445196:A100V;ENSP00000398279:A180V	ENSP00000261824:A217V	A	-	2	0	KDM2B	120471198	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	5.199000	0.65152	2.649000	0.89929	0.655000	0.94253	GCC		PASS	0.577	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		20	29	20	29	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122619802	122619802	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:122619802C>T	ENST00000319080.7	+	10	1896	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	MLXIP_ENST00000535996.1_3'UTR|MLXIP_ENST00000538698.1_Silent_p.I195I					MLX interacting protein									p.I588I(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AAGCGGTGATCATGACGTCAG	0.627																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1762-1764)ATC>ATT		MLX interacting protein							60.0	67.0	65.0					12																	122619802		2133	4234	6367	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122619802C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1764C>T	12.37:g.122619802C>T						MLXIP_uc001ubt.2_Silent_p.I195I	p.I588I	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	10	1764	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	588						Silent	SNP	ENST00000319080.7	37	c.1764C>T																																																																																					PASS	0.627	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		4	20	4	20	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122685097	122685097	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:122685097G>A	ENST00000339777.4	+	9	1538	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M	LRRC43_ENST00000425921.1_Missense_Mutation_p.V319M|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	504								p.V319M(1)|p.V504M(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTGGCCTGTGGTGCTACCTGC	0.567																																						uc009zxm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1510-1512)GTG>ATG		leucine rich repeat containing 43 isoform 1							122.0	134.0	130.0					12																	122685097		1944	4152	6096	SO:0001583	missense	254050							g.chr12:122685097G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1510G>A	12.37:g.122685097G>A	ENSP00000344233:p.Val504Met					LRRC43_uc001ubw.3_Missense_Mutation_p.V319M|LRRC43_uc009zxn.2_Missense_Mutation_p.V265M	p.V504M	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	9	1535	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		504					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1510G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844519	0.32606	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56941	0.43;0.86	4.51	1.28	0.21552	.	1.843980	0.03059	N	0.155640	T	0.46927	0.1418	L	0.54323	1.7	0.09310	N	1	B	0.28291	0.206	B	0.24269	0.052	T	0.37798	-0.9690	10	0.62326	D	0.03	-5.2653	3.7571	0.08589	0.0954:0.1638:0.5728:0.1681	.	504	Q8N309	LRC43_HUMAN	M	504;375;319	ENSP00000344233:V504M;ENSP00000416628:V319M	ENSP00000289014:V375M	V	+	1	0	LRRC43	121251050	0.000000	0.05858	0.007000	0.13788	0.011000	0.07611	-0.082000	0.11304	0.564000	0.29238	0.650000	0.86243	GTG		PASS	0.567	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		14	72	14	72	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122685424	122685424	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:122685424C>T	ENST00000339777.4	+	10	1780	c.1752C>T	c.(1750-1752)acC>acT	p.T584T	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Silent_p.T399T|B3GNT4_ENST00000546192.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	584								p.T584T(1)|p.T399T(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGGTGTCCACCGTGTGCAACT	0.692																																						uc009zxm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1750-1752)ACC>ACT		leucine rich repeat containing 43 isoform 1							31.0	38.0	36.0					12																	122685424		2048	4182	6230	SO:0001819	synonymous_variant	254050							g.chr12:122685424C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1752C>T	12.37:g.122685424C>T						LRRC43_uc001ubw.3_Silent_p.T399T|LRRC43_uc009zxn.2_Silent_p.T345T|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank	p.T584T	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1777	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		584					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.1752C>T	CCDS45001.1																																																																																				PASS	0.692	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		7	11	7	11	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	G	A	rs150472752	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:122748207G>A	ENST00000267199.4	-	3	320	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_ENST00000451053.2_Missense_Mutation_p.R70C|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R70C|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	70					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)		p.R70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373																																						uc001ucd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(208-210)CGT>TGT		vacuolar protein sorting 33A							85.0	81.0	83.0					12																	122748207		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122748207G>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.208C>T	12.37:g.122748207G>A	ENSP00000267199:p.Arg70Cys					VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R70C	p.R70C	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	3	321	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		70					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.208C>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756030	0.49362	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	D;D	0.82711	-1.64;-1.64	5.05	5.05	0.67936	.	0.062827	0.64402	D	0.000004	T	0.82250	0.4996	M	0.68952	2.095	0.80722	D	1	B;B	0.26041	0.14;0.123	B;B	0.19946	0.023;0.027	T	0.79708	-0.1690	10	0.41790	T	0.15	-10.417	18.7742	0.91904	0.0:0.0:1.0:0.0	.	70;70	F5H6Y0;Q96AX1	.;VP33A_HUMAN	C	70	ENSP00000267199:R70C;ENSP00000442951:R70C	ENSP00000446319:R70C	R	-	1	0	VPS33A	121314160	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.461000	0.80834	2.515000	0.84797	0.561000	0.74099	CGT		PASS	0.373	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			13	23	13	23	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123641363	123641363	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:123641363T>C	ENST00000606320.1	-	24	3749	c.3543A>G	c.(3541-3543)gcA>gcG	p.A1181A	MPHOSPH9_ENST00000541076.2_Silent_p.A1151A|MPHOSPH9_ENST00000392425.3_Silent_p.A1029A|MPHOSPH9_ENST00000302349.5_Intron			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1181						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1029A(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTCAAAGATTTGCAGAGGTGC	0.363																																						uc001uel.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3085-3087)GCA>GCG		M-phase phosphoprotein 9							57.0	54.0	55.0					12																	123641363		2202	4300	6502	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123641363T>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3543A>G	12.37:g.123641363T>C						MPHOSPH9_uc010tal.1_Silent_p.A483A|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.A483A	p.A1029A	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	20	3194	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1029					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.3087A>G																																																																																					PASS	0.363	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			6	7	6	7	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124090657	124090657	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124090657C>T	ENST00000238146.4	+	3	247	c.197C>T	c.(196-198)cCc>cTc	p.P66L	DDX55_ENST00000538744.1_Missense_Mutation_p.P66L	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	66	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P66L(1)|p.P66R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTGTCATCCCCATCCTGGAA	0.428																																						uc001ufi.2																			2	Substitution - Missense(2)	p.P66R(1)	ovary(1)|lung(1)	ovary(1)	1						c.(196-198)CCC>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							76.0	72.0	74.0					12																	124090657		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124090657C>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.197C>T	12.37:g.124090657C>T	ENSP00000238146:p.Pro66Leu					DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_5'UTR|DDX55_uc001ufk.2_5'Flank	p.P66L	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	3	221	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		66			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.197C>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505445	0.96371	.	.	ENSG00000111364	ENST00000238146;ENST00000538449;ENST00000538744	T;T	0.55760	2.28;0.5	6.17	6.17	0.99709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88284	0.2938	10	0.87932	D	0	-16.7259	20.8794	0.99867	0.0:1.0:0.0:0.0	.	66	Q8NHQ9	DDX55_HUMAN	L	66	ENSP00000238146:P66L;ENSP00000443114:P66L	ENSP00000238146:P66L	P	+	2	0	DDX55	122656610	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.428	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			4	35	4	35	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124212439	124212439	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124212439C>T	ENST00000330342.3	+	6	879	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	211					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.L211F(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)		GGATGAATCCCTTGAAGACCC	0.418																																						uc001ufr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(631-633)CTT>TTT		ATPase, H+ transporting, lysosomal V0 subunit							137.0	116.0	123.0					12																	124212439		2203	4300	6503	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.chr12:124212439C>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	ENST00000330342.3:c.631C>T	12.37:g.124212439C>T	ENSP00000332247:p.Leu211Phe					ATP6V0A2_uc001ufq.1_Missense_Mutation_p.L211F	p.L211F	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	6	879	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		211			Cytoplasmic (Potential).		A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.631C>T	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185521	0.78677	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87729	-2.29;-2.29	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	M	0.67625	2.065	0.80722	D	1	P;D	0.89917	0.887;1.0	P;D	0.91635	0.733;0.999	D	0.92430	0.5953	10	0.66056	D	0.02	-30.5996	14.0934	0.65004	0.0:0.9284:0.0:0.0716	.	211;211	Q9Y487;Q8TBM3	VPP2_HUMAN;.	F	211;211;81	ENSP00000332247:L211F;ENSP00000443441:L81F	ENSP00000332247:L211F	L	+	1	0	ATP6V0A2	122778392	0.996000	0.38824	0.959000	0.39883	0.894000	0.52154	1.984000	0.40658	2.702000	0.92279	0.462000	0.41574	CTT		PASS	0.418	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		6	21	6	21	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124325914	124325914	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124325914G>A	ENST00000409039.3	+	29	4853	c.4828G>A	c.(4828-4830)Gga>Aga	p.G1610R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1610	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G202R(1)|p.G1610R(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)		CGGCGATAGTGGAGAAAAACT	0.522																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4828-4830)GGA>AGA		dynein, axonemal, heavy chain 10							234.0	232.0	233.0					12																	124325914		2022	4177	6199	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325914G>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.4828G>A	12.37:g.124325914G>A	ENSP00000386770:p.Gly1610Arg						p.G1610R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4853	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1610			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4828G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893423	0.33442	.	.	ENSG00000197653	ENST00000409039	T	0.60424	0.19	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.076310	0.52532	U	0.000078	T	0.58395	0.2119	M	0.64567	1.98	0.80722	D	1	P	0.37276	0.589	B	0.39299	0.296	T	0.55554	-0.8123	10	0.17832	T	0.49	.	18.7853	0.91952	0.0:0.0:1.0:0.0	.	1610	Q8IVF4	DYH10_HUMAN	R	1610	ENSP00000386770:G1610R	ENSP00000386770:G1610R	G	+	1	0	DNAH10	122891867	1.000000	0.71417	0.384000	0.26145	0.024000	0.10985	5.442000	0.66575	2.457000	0.83068	0.561000	0.74099	GGA		PASS	0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			81	105	81	105	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124341675	124341675	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124341675C>T	ENST00000409039.3	+	36	6182	c.6157C>T	c.(6157-6159)Ctt>Ttt	p.L2053F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2053					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.L2053F(1)|p.L645F(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)		TCCTCTTTTCCTTGGTTTGAT	0.512																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6157-6159)CTT>TTT		dynein, axonemal, heavy chain 10							193.0	199.0	197.0					12																	124341675		2067	4189	6256	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124341675C>T	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.6157C>T	12.37:g.124341675C>T	ENSP00000386770:p.Leu2053Phe						p.L2053F	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	36	6182	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2053					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.6157C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871634	0.72065	.	.	ENSG00000197653	ENST00000409039	T	0.44083	0.93	5.75	5.75	0.90469	.	0.000000	0.64402	U	0.000018	T	0.70141	0.3190	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.72620	-0.4238	10	0.56958	D	0.05	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2053	Q8IVF4	DYH10_HUMAN	F	2053	ENSP00000386770:L2053F	ENSP00000386770:L2053F	L	+	1	0	DNAH10	122907628	1.000000	0.71417	0.996000	0.52242	0.336000	0.28762	3.237000	0.51344	2.725000	0.93324	0.655000	0.94253	CTT		PASS	0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	55	7	55	---	---	---	---
ZNF664	144348	broad.mit.edu	37	12	124497275	124497275	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124497275G>A	ENST00000539644.1	+	6	2414	c.584G>A	c.(583-585)gGa>gAa	p.G195E	ZNF664_ENST00000392404.3_Missense_Mutation_p.G195E|ZNF664_ENST00000337815.4_Missense_Mutation_p.G195E|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.G195E			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	195					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.G195E(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTCCACACTGGAGAGAAACCC	0.498																																						uc001ufz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GGA>GAA		zinc finger protein 664							104.0	103.0	103.0					12																	124497275		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497275G>A		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.584G>A	12.37:g.124497275G>A	ENSP00000441405:p.Gly195Glu					ZNF664_uc001uga.2_Missense_Mutation_p.G195E|ZNF664_uc001ugb.2_Missense_Mutation_p.G195E	p.G195E	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2414	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		195					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.584G>A	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766779	0.90020	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.01599	4.74;4.74;4.74;4.74	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40385	N	0.001102	T	0.05960	0.0155	L	0.37800	1.135	0.52099	D	0.999945	D	0.89917	1.0	D	0.74023	0.982	T	0.37979	-0.9682	10	0.87932	D	0	-22.493	14.9673	0.71204	0.0:0.0:1.0:0.0	.	195	Q8N3J9	ZN664_HUMAN	E	195;195;195;195;133	ENSP00000441405:G195E;ENSP00000376205:G195E;ENSP00000440645:G195E;ENSP00000337320:G195E	ENSP00000337320:G195E	G	+	2	0	ZNF664	123063228	1.000000	0.71417	0.860000	0.33809	0.998000	0.95712	6.375000	0.73137	2.651000	0.90000	0.655000	0.94253	GGA		PASS	0.498	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		47	53	47	53	---	---	---	---
ZNF664	144348	broad.mit.edu	37	12	124497277	124497277	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124497277G>A	ENST00000539644.1	+	6	2416	c.586G>A	c.(586-588)Gag>Aag	p.E196K	ZNF664_ENST00000392404.3_Missense_Mutation_p.E196K|ZNF664_ENST00000337815.4_Missense_Mutation_p.E196K|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000538932.2_Missense_Mutation_p.E196K			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	196					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.E196K(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CCACACTGGAGAGAAACCCTA	0.498																																						uc001ufz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GAG>AAG		zinc finger protein 664							105.0	102.0	103.0					12																	124497277		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497277G>A		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.586G>A	12.37:g.124497277G>A	ENSP00000441405:p.Glu196Lys					ZNF664_uc001uga.2_Missense_Mutation_p.E196K|ZNF664_uc001ugb.2_Missense_Mutation_p.E196K	p.E196K	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		196					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.586G>A	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331312	0.95733	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.25	4.25	0.50352	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.001000	T	0.43590	0.1254	L	0.47016	1.485	0.51482	D	0.999926	D	0.76494	0.999	D	0.78314	0.991	T	0.33828	-0.9853	10	0.72032	D	0.01	-33.3987	14.9673	0.71204	0.0:0.0:1.0:0.0	.	196	Q8N3J9	ZN664_HUMAN	K	196;196;196;196;134	ENSP00000441405:E196K;ENSP00000376205:E196K;ENSP00000440645:E196K;ENSP00000337320:E196K	ENSP00000337320:E196K	E	+	1	0	ZNF664	123063230	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	5.334000	0.65923	2.651000	0.90000	0.655000	0.94253	GAG		PASS	0.498	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		48	52	48	52	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124798882	124798882	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:124798882C>T	ENST00000389727.3	+	3	462	c.462C>T	c.(460-462)acC>acT	p.T154T	FAM101A_ENST00000338359.4_Silent_p.T73T|FAM101A_ENST00000324038.3_Silent_p.T73T|FAM101A_ENST00000546355.1_Silent_p.T73T			Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	154								p.T73T(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCCAGCTGACCCTGGAGCCAC	0.657																																						uc001ugd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)ACC>ACT		hypothetical protein LOC144347							97.0	88.0	91.0					12																	124798882		2203	4300	6503	SO:0001819	synonymous_variant	144347							g.chr12:124798882C>T		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000389727.3:c.462C>T	12.37:g.124798882C>T						FAM101A_uc001uge.1_Silent_p.T73T	p.T73T	NM_181709	NP_859060	Q6ZTI6	F101A_HUMAN		Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)	3	462	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		154					A5D8T5	Silent	SNP	ENST00000389727.3	37	c.219C>T																																																																																					PASS	0.657	FAM101A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_181709		5	32	5	32	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125292364	125292364	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:125292364C>T	ENST00000415380.2	-	7	1077	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	SCARB1_ENST00000546215.1_Missense_Mutation_p.E318K|SCARB1_ENST00000541205.1_Missense_Mutation_p.E277K|SCARB1_ENST00000376788.1_Missense_Mutation_p.E218K|SCARB1_ENST00000540495.1_Missense_Mutation_p.E281K|SCARB1_ENST00000544327.1_Missense_Mutation_p.E264K|SCARB1_ENST00000339570.5_Missense_Mutation_p.E318K|SCARB1_ENST00000261693.6_Missense_Mutation_p.E318K|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	318					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E318K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGAAGCCTTCGTTGGGTGGG	0.587																																						uc001ugo.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(952-954)GAA>AAA		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						101.0	86.0	91.0					12																	125292364		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125292364C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.952G>A	12.37:g.125292364C>T	ENSP00000414979:p.Glu318Lys					SCARB1_uc001ugn.3_Missense_Mutation_p.E318K|SCARB1_uc001ugm.3_Missense_Mutation_p.E318K|SCARB1_uc010tbd.1_Missense_Mutation_p.E318K|SCARB1_uc010tbe.1_Missense_Mutation_p.E277K|SCARB1_uc001ugp.3_Missense_Mutation_p.E318K	p.E318K	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	7	1205	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		318			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.952G>A		.	.	.	.	.	.	.	.	.	.	C	17.51	3.407803	0.62399	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.57	5.57	0.84162	.	0.335175	0.31660	N	0.007263	T	0.77191	0.4094	L	0.60067	1.865	0.80722	D	1	D;P;D;D;P;D	0.64830	0.986;0.931;0.986;0.986;0.951;0.994	P;P;P;P;P;P	0.53102	0.718;0.576;0.718;0.718;0.596;0.596	T	0.74025	-0.3797	10	0.30078	T	0.28	-39.7486	19.5555	0.95345	0.0:1.0:0.0:0.0	.	277;318;318;318;318;318	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	K	318;318;318;218;318;277;264;281	ENSP00000343795:E318K;ENSP00000414979:E318K;ENSP00000261693:E318K;ENSP00000365984:E218K;ENSP00000442862:E318K;ENSP00000446107:E277K;ENSP00000444851:E264K;ENSP00000443286:E281K	ENSP00000261693:E318K	E	-	1	0	SCARB1	123858317	0.999000	0.42202	0.999000	0.59377	0.619000	0.37552	4.287000	0.59001	2.619000	0.88677	0.491000	0.48974	GAA		PASS	0.587	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		22	25	22	25	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126138226	126138226	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:126138226C>T	ENST00000299308.3	+	9	2215	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S248F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	736						integral component of membrane (GO:0016021)		p.S736F(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGTGGTGTCTGTCCAGGCA	0.418																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2206-2208)TCT>TTT		transmembrane protein 132B							137.0	134.0	135.0					12																	126138226		1937	4141	6078	SO:0001583	missense	114795					integral to membrane		g.chr12:126138226C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2207C>T	12.37:g.126138226C>T	ENSP00000299308:p.Ser736Phe					TMEM132B_uc001uhf.1_Missense_Mutation_p.S248F	p.S736F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2215	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		736			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2207C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573088	0.86542	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.16324	2.35;2.35	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.45955	0.1368	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.34004	-0.9846	10	0.66056	D	0.02	.	20.0839	0.97794	0.0:1.0:0.0:0.0	.	736	Q14DG7	T132B_HUMAN	F	736;248	ENSP00000299308:S736F;ENSP00000440436:S248F	ENSP00000299308:S736F	S	+	2	0	TMEM132B	124704179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.762000	0.68809	2.741000	0.93983	0.655000	0.94253	TCT		PASS	0.418	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		29	35	29	35	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126139082	126139082	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:126139082G>A	ENST00000299308.3	+	9	3071	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	TMEM132B_ENST00000535886.1_Silent_p.R533R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1021						integral component of membrane (GO:0016021)		p.R1021R(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCCAAAGAGGAAGAGAGTCA	0.458																																						uc001uhe.1																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(3061-3063)AGG>AGA		transmembrane protein 132B							62.0	60.0	61.0					12																	126139082		1881	4100	5981	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126139082G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3063G>A	12.37:g.126139082G>A						TMEM132B_uc001uhf.1_Silent_p.R533R	p.R1021R	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	3071	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1021			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.3063G>A	CCDS41859.1																																																																																				PASS	0.458	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		19	23	19	23	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558431	129558431	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:129558431C>T	ENST00000422113.2	-	9	3615	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E635K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1097					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E1097K(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACACATTTTCATGTAACCTC	0.493																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(3289-3291)GAA>AAA		transmembrane protein 132D precursor							190.0	155.0	167.0					12																	129558431		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558431C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3289G>A	12.37:g.129558431C>T	ENSP00000408581:p.Glu1097Lys					TMEM132D_uc001uia.2_Missense_Mutation_p.E635K	p.E1097K	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3617	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1097			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3289G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516565	0.85495	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.12774	2.65;3.42	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000006	T	0.36441	0.0967	M	0.72118	2.19	0.51767	D	0.999936	P;D	0.89917	0.925;1.0	P;D	0.74348	0.691;0.983	T	0.17623	-1.0363	9	.	.	.	-32.5727	16.9375	0.86207	0.0:1.0:0.0:0.0	.	1097;635	Q14C87;Q14C87-2	T132D_HUMAN;.	K	635;1097	ENSP00000374092:E635K;ENSP00000408581:E1097K	.	E	-	1	0	TMEM132D	128124384	1.000000	0.71417	0.007000	0.13788	0.007000	0.05969	5.716000	0.68437	2.046000	0.60703	0.563000	0.77884	GAA		PASS	0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		24	28	24	28	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558939	129558939	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:129558939G>A	ENST00000422113.2	-	9	3107	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	TMEM132D_ENST00000389441.4_Silent_p.F465F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	927					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.F927F(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCCAAACAGAAGACTCCCA	0.458																																						uc009zyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2779-2781)TTC>TTT		transmembrane protein 132D precursor							130.0	114.0	119.0					12																	129558939		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558939G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2781C>T	12.37:g.129558939G>A						TMEM132D_uc001uia.2_Silent_p.F465F	p.F927F	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3109	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	927			Helical; (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.2781C>T	CCDS9266.1																																																																																				PASS	0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		31	46	31	46	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130941081	130941081	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:130941081G>A	ENST00000261655.4	-	4	430	c.267C>T	c.(265-267)ttC>ttT	p.F89F	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	89					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F89F(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGAACTGTGGGAAAGGCTTGC	0.647																																						uc001uil.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(265-267)TTC>TTT		RIM-binding protein 2							58.0	47.0	51.0					12																	130941081		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130941081G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.267C>T	12.37:g.130941081G>A						RIMBP2_uc001uim.2_5'UTR	p.F89F	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	4	431	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	89					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.267C>T	CCDS31925.1																																																																																				PASS	0.647	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		11	17	11	17	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131590383	131590383	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:131590383C>T	ENST00000261654.5	+	17	2419	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	GPR133_ENST00000376682.4_Silent_p.L306L|GPR133_ENST00000535015.1_Silent_p.L652L|GPR133_ENST00000543617.1_Silent_p.L139L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	620					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.L620L(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCTGCTGCTCATTAGTTTCC	0.652																																						uc001uit.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1858-1860)CTC>CTT		G protein-coupled receptor 133 precursor							141.0	92.0	109.0					12																	131590383		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131590383C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1860C>T	12.37:g.131590383C>T						GPR133_uc010tbm.1_Silent_p.L652L|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.L139L|GPR133_uc009zyp.2_RNA	p.L620L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	17	2419	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		620			Helical; Name=2; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1860C>T	CCDS9272.1																																																																																				PASS	0.652	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		11	10	11	10	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132471210	132471210	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:132471210C>T	ENST00000333577.4	+	7	2298	c.2189C>T	c.(2188-2190)gCc>gTc	p.A730V	EP400_ENST00000389562.2_Missense_Mutation_p.A693V|EP400_ENST00000330386.6_Missense_Mutation_p.A694V|EP400_ENST00000389561.2_Missense_Mutation_p.A694V|EP400_ENST00000332482.4_Missense_Mutation_p.A657V			Q96L91	EP400_HUMAN	E1A binding protein p400	730					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A693V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTCCTCAGCCACCAATAAG	0.617																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(2080-2082)GCC>GTC		E1A binding protein p400							106.0	97.0	100.0					12																	132471210		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471210C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2189C>T	12.37:g.132471210C>T	ENSP00000333602:p.Ala730Val					EP400_uc001ujl.2_Missense_Mutation_p.A693V|EP400_uc001ujm.2_Missense_Mutation_p.A694V|EP400_uc001ujj.1_Missense_Mutation_p.A657V|EP400_uc001ujk.2_Missense_Mutation_p.A730V	p.A694V	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	5	2116	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	730					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2081C>T		.	.	.	.	.	.	.	.	.	.	C	12.02	1.811503	0.32053	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90197	-2.62;-2.61;-2.63;-2.6;-2.63	5.71	5.71	0.89125	.	0.218468	0.47852	D	0.000211	D	0.89068	0.6610	L	0.59436	1.845	0.32750	N	0.506571	B;B;B;B;B	0.31548	0.328;0.328;0.328;0.107;0.328	B;B;B;B;B	0.36666	0.154;0.154;0.154;0.015;0.23	D	0.88762	0.3258	10	0.23891	T	0.37	.	14.0737	0.64877	0.0:0.9283:0.0:0.0717	.	694;694;693;730;657	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	V	657;730;694;693;657;694;730;694;694	ENSP00000333602:A730V;ENSP00000374212:A694V;ENSP00000374213:A693V;ENSP00000331737:A657V;ENSP00000330620:A694V	ENSP00000330620:A694V	A	+	2	0	EP400	131037163	0.065000	0.20965	0.725000	0.30721	0.147000	0.21601	1.125000	0.31332	2.691000	0.91804	0.563000	0.77884	GCC		PASS	0.617	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	51	10	51	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133196311	133196311	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:133196311C>T	ENST00000389110.3	+	3	393	c.356C>T	c.(355-357)tCc>tTc	p.S119F	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.S119F|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Missense_Mutation_p.S119F|P2RX2_ENST00000352418.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	119					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.S119F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCCACCCACTCCCAGACCCAG	0.731																																						uc001ukj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)TCC>TTC		purinergic receptor P2X2 isoform A							13.0	17.0	16.0					12																	133196311		2191	4278	6469	SO:0001583	missense	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196311C>T	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.356C>T	12.37:g.133196311C>T	ENSP00000373762:p.Ser119Phe					P2RX2_uc001uki.1_Missense_Mutation_p.S119F|P2RX2_uc001ukk.1_Missense_Mutation_p.S119F|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.S119F|P2RX2_uc001uko.1_Intron	p.S119F	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	3	356	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	119			Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	c.356C>T	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.852|7.852	0.724244|0.724244	0.15439|0.15439	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000542301;ENST00000536121;ENST00000535910|ENST00000389110;ENST00000343948;ENST00000348800	.|T;T;T	.|0.04454	.|3.62;3.62;3.62	4.03|4.03	-2.51|-2.51	0.06365|0.06365	.|.	.|0.590445	.|0.17876	.|N	.|0.159032	T|T	0.02083|0.02083	0.0065|0.0065	N|N	0.04297|0.04297	-0.235|-0.235	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.12013	.|0.001;0.005;0.002;0.001	.|B;B;B;B	.|0.12156	.|0.007;0.006;0.007;0.002	T|T	0.41052|0.41052	-0.9530|-0.9530	5|10	.|0.48119	.|T	.|0.1	-9.8242|-9.8242	7.6466|7.6466	0.28323|0.28323	0.0:0.1797:0.1684:0.652|0.0:0.1797:0.1684:0.652	.|.	.|119;119;119;119	.|Q32MC3;Q9UBL9-4;Q9UBL9;Q9UBL9-2	.|.;.;P2RX2_HUMAN;.	S|F	130;105;75|119	.|ENSP00000373762:S119F;ENSP00000343339:S119F;ENSP00000345095:S119F	.|ENSP00000343339:S119F	P|S	+|+	1|2	0|0	P2RX2|P2RX2	131706384|131706384	0.000000|0.000000	0.05858|0.05858	0.668000|0.668000	0.29813|0.29813	0.305000|0.305000	0.27757|0.27757	-0.257000|-0.257000	0.08745|0.08745	-0.354000|-0.354000	0.08212|0.08212	0.511000|0.511000	0.50034|0.50034	CCC|TCC		PASS	0.731	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			7	5	7	5	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133218806	133218806	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:133218806G>A	ENST00000320574.5	-	38	5173	c.5130C>T	c.(5128-5130)gaC>gaT	p.D1710D	POLE_ENST00000535270.1_Silent_p.D1683D|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1710					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.D1710D(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAGTGGCTTGGTCATCGAACT	0.572								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5128-5130)GAC>GAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							120.0	117.0	118.0					12																	133218806		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218806G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5130C>T	12.37:g.133218806G>A						POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.D514D|POLE_uc010tbq.1_RNA	p.D1710D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	38	5174	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1710					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.5130C>T	CCDS9278.1																																																																																				PASS	0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		30	37	30	37	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133304630	133304630	+	Nonsense_Mutation	SNP	G	G	T	rs200743167		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:133304630G>T	ENST00000357997.5	-	12	2692	c.2603C>A	c.(2602-2604)tCg>tAg	p.S868*	ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542282.1_Nonsense_Mutation_p.S223*|ANKLE2_ENST00000539605.1_Nonsense_Mutation_p.S806*|ANKLE2_ENST00000542657.1_Nonsense_Mutation_p.S223*	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S868*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGTCTGTCCGAGGGTGAGTA	0.577																																						uc001ukx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2602-2604)TCG>TAG		ankyrin repeat and LEM domain containing 2							122.0	133.0	129.0					12																	133304630		1997	4145	6142	SO:0001587	stop_gained	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304630G>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2603C>A	12.37:g.133304630G>T	ENSP00000350686:p.Ser868*					ANKLE2_uc009zyw.1_Nonsense_Mutation_p.S223*	p.S868*	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	12	2670	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	868					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Nonsense_Mutation	SNP	ENST00000357997.5	37	c.2603C>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	49	15.961428	0.99850	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	.	.	.	5.36	4.27	0.50696	.	0.416368	0.27319	N	0.019906	.	.	.	.	.	.	0.26401	N	0.976413	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4797	13.6787	0.62469	0.0898:0.0:0.9102:0.0	.	.	.	.	X	806;868;223;223;223	.	ENSP00000350686:S868X	S	-	2	0	ANKLE2	131814703	0.787000	0.28750	0.007000	0.13788	0.031000	0.12232	4.487000	0.60293	2.508000	0.84585	0.655000	0.94253	TCG		PASS	0.577	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			5	105	5	105	---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133435753	133435753	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:133435753G>A	ENST00000432561.2	-	8	921	c.848C>T	c.(847-849)aCc>aTc	p.T283I	CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.T191I|CHFR_ENST00000450056.2_Missense_Mutation_p.T271I|CHFR_ENST00000266880.7_Missense_Mutation_p.T283I|CHFR_ENST00000315585.7_Missense_Mutation_p.T242I			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	283					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T242I(1)|p.T283I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCGTGGACGGTTTGGGCATT	0.572																																						uc001ulf.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(847-849)ACC>ATC		checkpoint with forkhead and ring finger domains							218.0	137.0	164.0					12																	133435753		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133435753G>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.848C>T	12.37:g.133435753G>A	ENSP00000392395:p.Thr283Ile					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.T271I|CHFR_uc010tbs.1_Missense_Mutation_p.T283I|CHFR_uc001uld.2_Missense_Mutation_p.T242I|CHFR_uc010tbt.1_Missense_Mutation_p.T191I	p.T283I	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	8	932	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	283					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.848C>T	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817438	0.32145	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.18810	2.46;2.2;2.46;2.19;2.45	5.34	-2.64	0.06114	.	1.301390	0.04738	N	0.422431	T	0.18676	0.0448	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.003;0.002;0.003;0.002	B;B;B;B;B	0.15484	0.006;0.01;0.004;0.013;0.006	T	0.39354	-0.9618	10	0.49607	T	0.09	-14.9285	9.6604	0.39952	0.1836:0.538:0.2783:0.0	.	191;283;283;271;242	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	I	242;191;271;283;83;283	ENSP00000320557:T242I;ENSP00000416431:T191I;ENSP00000398735:T271I;ENSP00000266880:T283I;ENSP00000392395:T283I	ENSP00000266880:T283I	T	-	2	0	CHFR	131945826	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.890000	0.28295	-0.605000	0.05753	0.655000	0.94253	ACC		PASS	0.572	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			14	22	14	22	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	19999111	19999111	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:19999111T>C	ENST00000400230.2	-	19	1486	c.1442A>G	c.(1441-1443)aAc>aGc	p.N481S	TPTE2_ENST00000390680.2_Missense_Mutation_p.N404S|TPTE2_ENST00000457266.2_Missense_Mutation_p.N370S|TPTE2_ENST00000382977.4_Missense_Mutation_p.N481S|TPTE2_ENST00000382978.1_Missense_Mutation_p.N441S|TPTE2_ENST00000400103.2_Missense_Mutation_p.N370S|TPTE2_ENST00000255310.6_Missense_Mutation_p.N404S|TPTE2_ENST00000382975.4_Missense_Mutation_p.N441S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	481	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N404S(1)|p.N481S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACGTGTTGAACCAGAA	0.294																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1441-1443)AAC>AGC		TPTE and PTEN homologous inositol lipid							53.0	51.0	52.0					13																	19999111		2143	4278	6421	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:19999111T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1442A>G	13.37:g.19999111T>C	ENSP00000383089:p.Asn481Ser					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.N370S|TPTE2_uc001ume.2_Missense_Mutation_p.N404S|TPTE2_uc009zzm.2_Missense_Mutation_p.N152S|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.N152S	p.N481S	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	20	1653	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	481			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1442A>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	11.03	1.519466	0.27211	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	2.17	2.17	0.27698	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.233753	0.41396	U	0.000890	D	0.93194	0.7832	M	0.79258	2.445	0.30861	N	0.733476	P;P;P	0.49559	0.925;0.841;0.925	P;P;P	0.54629	0.757;0.587;0.71	D	0.90454	0.4441	9	.	.	.	-6.1954	8.2876	0.31939	0.0:0.0:0.0:1.0	.	370;404;481	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	441;370;481;404;404;481;441;370	ENSP00000372438:N441S;ENSP00000382974:N370S;ENSP00000383089:N481S;ENSP00000255310:N404S;ENSP00000375098:N404S;ENSP00000372437:N481S;ENSP00000372435:N441S;ENSP00000442218:N370S	.	N	-	2	0	TPTE2	18897111	1.000000	0.71417	0.032000	0.17829	0.413000	0.31143	4.932000	0.63476	1.250000	0.43966	0.163000	0.16589	AAC		PASS	0.294	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	12	4	12	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21362645	21362646	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21362645_21362646GG>AA	ENST00000255305.6	-	20	3097_3098	c.3026_3027CC>TT	c.(3025-3027)tCC>tTT	p.S1009F	XPO4_ENST00000400602.2_Missense_Mutation_p.S1009F			Q9C0E2	XPO4_HUMAN	exportin 4	1009					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S982F(2)|p.S982S(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTAATTCTAGGGAGTACATCAG	0.312																																						uc001unq.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(3025-3027)TCC>TCT|c.(3025-3027)TCC>TTC		exportin 4																																				SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21362645G>A|g.chr13:21362646G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3026_3027delinsAA	13.37:g.21362645_21362646delinsAA	ENSP00000255305:p.Ser1009Phe						p.S1009S|p.S1009F	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	20	3063|3062	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1009					Q5VUZ5|Q8N3V6|Q9H934	Silent|Missense_Mutation	SNP	ENST00000255305.6	37	c.3027C>T|c.3026C>T	CCDS41872.1																																																																																				PASS	0.312	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		12	19|20	12	19	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21417152	21417152	+	Silent	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21417152A>C	ENST00000255305.6	-	6	680	c.609T>G	c.(607-609)gtT>gtG	p.V203V	XPO4_ENST00000400602.2_Silent_p.V203V			Q9C0E2	XPO4_HUMAN	exportin 4	203					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V176V(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCAGAACTTCAACAGTTAACA	0.378																																						uc001unq.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(607-609)GTT>GTG		exportin 4							52.0	52.0	52.0					13																	21417152		1917	4130	6047	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21417152A>C	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.609T>G	13.37:g.21417152A>C						XPO4_uc010tcr.1_Silent_p.V129V	p.V203V	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	6	645	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	203					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.609T>G	CCDS41872.1																																																																																				PASS	0.378	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		11	21	11	21	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21442736	21442736	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21442736C>T	ENST00000255305.6	-	2	245	c.174G>A	c.(172-174)ttG>ttA	p.L58L	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Splice_Site_p.L58L			Q9C0E2	XPO4_HUMAN	exportin 4	58					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L31L(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AATACTTACCCAAAATATGCT	0.318																																						uc001unq.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(172-174)TTG>TTA		exportin 4							118.0	108.0	111.0					13																	21442736		1831	4084	5915	SO:0001630	splice_region_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21442736C>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.175+1G>A	13.37:g.21442736C>T						XPO4_uc010tcr.1_Intron	p.L58L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	2	210	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	58					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.174G>A	CCDS41872.1																																																																																				PASS	0.318	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	Silent	5	30	5	30	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562372	21562372	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21562372G>A	ENST00000382592.4	-	4	1952	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.P516L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P516L(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGTAGGGCGGAGGCGGGCA	0.711																																						uc009zzs.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(1546-1548)CCG>CTG		LATS, large tumor suppressor, homolog 2							19.0	21.0	20.0					13																	21562372		2201	4297	6498	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562372G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1547C>T	13.37:g.21562372G>A	ENSP00000372035:p.Pro516Leu					LATS2_uc001unr.3_Missense_Mutation_p.P516L	p.P516L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1912	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	516			PPxY motif.			Missense_Mutation	SNP	ENST00000382592.4	37	c.1547C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007254	0.93287	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.70749	-0.51;-0.51	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000003	T	0.80681	0.4669	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	T	0.81448	-0.0928	10	0.59425	D	0.04	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	516	Q9NRM7	LATS2_HUMAN	L	516	ENSP00000372035:P516L;ENSP00000441817:P516L	ENSP00000372035:P516L	P	-	2	0	LATS2	20460372	1.000000	0.71417	0.658000	0.29665	0.900000	0.52787	3.663000	0.54518	2.691000	0.91804	0.549000	0.68633	CCG		PASS	0.711	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			4	7	4	7	---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21563271	21563271	+	Silent	SNP	G	G	A	rs543714031		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21563271G>A	ENST00000382592.4	-	4	1053	c.648C>T	c.(646-648)ttC>ttT	p.F216F	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.F216F	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.F216F(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGACTCCGGGGAAAAGGTAGT	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		13815	0.0		0.0	False		,,,				2504	0.001					uc009zzs.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(646-648)TTC>TTT		LATS, large tumor suppressor, homolog 2							21.0	22.0	22.0					13																	21563271		2200	4298	6498	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563271G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.648C>T	13.37:g.21563271G>A						LATS2_uc001unr.3_Silent_p.F216F	p.F216F	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1013	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	216						Silent	SNP	ENST00000382592.4	37	c.648C>T	CCDS9294.1																																																																																				PASS	0.711	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	9	3	9	---	---	---	---
SAP18	10284	broad.mit.edu	37	13	21715094	21715094	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21715094C>A	ENST00000607003.1	+	2	174	c.142C>A	c.(142-144)Cgg>Agg	p.R48R	SAP18_ENST00000382533.4_Silent_p.R67R|SNORD27_ENST00000516319.1_RNA|SAP18_ENST00000485646.1_3'UTR|RN7SL80P_ENST00000580631.1_RNA			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	48					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R48R(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CGAGTTCTCCCGGGGAAATGT	0.587																																						uc001uns.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)CGG>AGG		Sin3A-associated protein, 18kDa							105.0	102.0	103.0					13																	21715094		2203	4300	6503	SO:0001819	synonymous_variant	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21715094C>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.142C>A	13.37:g.21715094C>A							p.R67R	NM_005870	NP_005861	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	2	238	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	48					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Silent	SNP	ENST00000607003.1	37	c.199C>A		.	.	.	.	.	.	.	.	.	.	C	11.24	1.580196	0.28180	.	.	ENSG00000150459	ENST00000450573	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	T	0.64450	0.2599	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63014	-0.6731	4	.	.	.	-4.2176	12.9712	0.58513	0.1618:0.8381:0.0:0.0	.	.	.	.	Q	61	.	.	P	+	2	0	SAP18	20613094	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.413000	0.52686	2.318000	0.78349	0.491000	0.48974	CCG		PASS	0.587	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	55	4	55	---	---	---	---
MRPL57	78988	broad.mit.edu	37	13	21751173	21751173	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:21751173G>A	ENST00000309594.4	+	2	196	c.118G>A	c.(118-120)Gag>Aag	p.E40K	SKA3_ENST00000314759.5_5'Flank|SKA3_ENST00000400018.3_5'Flank	NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN		40					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.E40K(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		CCGCCGCCTGGAGATCGAGGC	0.697																																						uc001unw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GAG>AAG		mitochondrial ribosomal protein 63							35.0	37.0	36.0					13																	21751173		2202	4297	6499	SO:0001583	missense	78988							g.chr13:21751173G>A																												ENST00000309594.4:c.118G>A	13.37:g.21751173G>A	ENSP00000310726:p.Glu40Lys					SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank	p.E40K	NM_024026	NP_076931	Q9BQC6	RT63_HUMAN		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)	2	608	+		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	40					A2A332	Missense_Mutation	SNP	ENST00000309594.4	37	c.118G>A	CCDS9296.1	.	.	.	.	.	.	.	.	.	.	G	37	6.224913	0.97390	.	.	ENSG00000173141	ENST00000309594	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85317	0.1082	9	0.66056	D	0.02	-7.6165	18.3666	0.90392	0.0:0.0:1.0:0.0	.	40	Q9BQC6	RT63_HUMAN	K	40	.	ENSP00000310726:E40K	E	+	1	0	MRP63	20649173	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	9.331000	0.96430	2.444000	0.82710	0.491000	0.48974	GAG		PASS	0.697	MRP63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044105.2			9	30	9	30	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23928927	23928927	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:23928927C>T	ENST00000382292.3	-	7	2097	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Silent_p.V608V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	608					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V461V(1)|p.V608V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCAGCATCCACATTCCCTG	0.532																																						uc001uon.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1822-1824)GTG>GTA		sacsin							82.0	77.0	79.0					13																	23928927		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23928927C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1824G>A	13.37:g.23928927C>T						SACS_uc001uoo.2_Silent_p.V461V|SACS_uc001uop.1_Silent_p.V395V|SACS_uc001uoq.1_Silent_p.V461V	p.V608V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	2413	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	608					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.1824G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	4.541	0.100491	0.08731	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	1.4	0.22301	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.34181	D	0.670917	.	.	.	.	.	.	T	0.54642	-0.8263	4	.	.	.	.	7.6781	0.28497	0.4741:0.2732:0.2526:0.0	.	.	.	.	R	508	.	.	G	-	1	0	SACS	22826927	0.817000	0.29147	0.031000	0.17742	0.746000	0.42486	0.064000	0.14437	0.300000	0.22699	0.561000	0.74099	GGA		PASS	0.532	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	32	10	32	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25284959	25284959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:25284959C>A	ENST00000381946.3	+	21	3094	c.2927C>A	c.(2926-2928)tCa>tAa	p.S976*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.S982*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	976					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.S976*(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGGATCACCTCACAGATCATC	0.488																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2926-2928)TCA>TAA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						163.0	138.0	146.0					13																	25284959		2203	4300	6503	SO:0001587	stop_gained	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25284959C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2927C>A	13.37:g.25284959C>A	ENSP00000371372:p.Ser976*					ATP12A_uc010aaa.2_Nonsense_Mutation_p.S982*	p.S976*	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	21	3114	+		Lung SC(185;0.0225)|Breast(139;0.077)	976			Helical; (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	c.2927C>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	40	8.105864	0.98657	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	12.3321	0.55046	0.1687:0.8312:0.0:0.0	.	.	.	.	X	982;976	.	ENSP00000218548:S982X	S	+	2	0	ATP12A	24182959	0.999000	0.42202	0.996000	0.52242	0.122000	0.20287	4.594000	0.61041	2.687000	0.91594	0.655000	0.94253	TCA		PASS	0.488	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		21	28	21	28	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25670880	25670880	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:25670880G>A	ENST00000281589.3	+	1	581	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	182					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.E182K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGAGAAGCTGAACTTGGAGC	0.413																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(544-546)GAA>AAA		poly(A) binding protein, cytoplasmic 3							100.0	94.0	96.0					13																	25670880		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670880G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.544G>A	13.37:g.25670880G>A	ENSP00000281589:p.Glu182Lys						p.E182K	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	605	+		Lung SC(185;0.0225)|Breast(139;0.0602)	182					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.544G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024263	0.54683	.	.	ENSG00000151846	ENST00000281589	D	0.85629	-2.01	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.47455	U	0.000227	T	0.79470	0.4451	L	0.58302	1.8	0.48762	D	0.999707	P	0.45634	0.863	B	0.43754	0.43	T	0.72646	-0.4230	10	0.19147	T	0.46	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	182	Q9H361	PABP3_HUMAN	K	182	ENSP00000281589:E182K	ENSP00000281589:E182K	E	+	1	0	PABPC3	24568880	1.000000	0.71417	0.794000	0.32065	0.388000	0.30384	6.590000	0.74085	0.748000	0.32831	0.305000	0.20034	GAA		PASS	0.413	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		16	33	16	33	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671266	25671267	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:25671266_25671267CC>TT	ENST00000281589.3	+	1	967_968	c.930_931CC>TT	c.(928-933)ctCCgg>ctTTgg	p.R311W		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	311	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R311W(2)|p.L310L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAACGTCTCCGGAAAGCGTT	0.416																																						uc001upy.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(1)	4						c.(928-930)CTC>CTT|c.(931-933)CGG>TGG		poly(A) binding protein, cytoplasmic 3																																				SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671266C>T|g.chr13:25671267C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	Exception_encountered	13.37:g.25671266_25671267delinsTT	ENSP00000281589:p.Arg311Trp						p.L310L|p.R311W	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	991|992	+		Lung SC(185;0.0225)|Breast(139;0.0602)	310|311			RRM 4.		Q8NHV0|Q9H086	Silent|Missense_Mutation	SNP	ENST00000281589.3	37	c.930C>T|c.931C>T	CCDS9311.1																																																																																				PASS	0.416	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		63|65	130|129	63	129	---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333080	27333080	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:27333080G>A	ENST00000381436.2	-	1	1347	c.885C>T	c.(883-885)atC>atT	p.I295I	GPR12_ENST00000405846.3_Silent_p.I295I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	295					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.I295I(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGGGTTGATGATGGAATTGT	0.532																																						uc010aal.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(883-885)ATC>ATT		G protein-coupled receptor 12							124.0	122.0	123.0					13																	27333080		2203	4300	6503	SO:0001819	synonymous_variant	2835					integral to plasma membrane		g.chr13:27333080G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.885C>T	13.37:g.27333080G>A						GPR12_uc010tdl.1_Silent_p.I136I	p.I295I	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1107	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	295			Helical; Name=7; (Potential).		Q5T8P3	Silent	SNP	ENST00000381436.2	37	c.885C>T	CCDS9319.1																																																																																				PASS	0.532	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			11	39	11	39	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28588655	28588655	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:28588655C>T	ENST00000241453.7	-	23	2874	c.2793G>A	c.(2791-2793)agG>agA	p.R931R	FLT3_ENST00000537084.1_Silent_p.R890R|FLT3_ENST00000469894.1_5'Flank|FLT3_ENST00000380982.4_Silent_p.R934R	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	931	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R931R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGGCCGTTTCCTTGAGTCAA	0.403			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2				Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2791-2793)AGG>AGA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						91.0	85.0	87.0					13																	28588655		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28588655C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2793G>A	13.37:g.28588655C>T						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R890R	p.R931R	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	23	2875	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	931			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2793G>A	CCDS31953.1																																																																																				PASS	0.403	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			12	46	12	46	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599057	29599057	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:29599057C>T	ENST00000431530.3	+	1	310	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	74						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.F84F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTACCCATTTCCATAAGGAAT	0.463																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)TTC>TTT		hypothetical protein LOC23281 isoform a							35.0	33.0	34.0					13																	29599057		1830	4082	5912	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599057C>T	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.252C>T	13.37:g.29599057C>T							p.F84F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	310	+			74					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.252C>T	CCDS45022.1																																																																																				PASS	0.463	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		11	22	11	22	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29600876	29600876	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:29600876G>A	ENST00000431530.3	+	1	2129	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	681	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.E691K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTCCCCACGAAGAGAAGGC	0.582																																						uc001usl.3																			2	Substitution - Missense(2)	p.E691K(1)	lung(1)|pancreas(1)		0						c.(2071-2073)GAA>AAA		hypothetical protein LOC23281 isoform a							53.0	56.0	55.0					13																	29600876		1958	4132	6090	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600876G>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.2071G>A	13.37:g.29600876G>A	ENSP00000392057:p.Glu691Lys						p.E691K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	2129	+			681			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2071G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	17.89	3.500029	0.64298	.	.	ENSG00000132938	ENST00000431530	T	0.16897	2.31	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000015	T	0.40719	0.1128	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.00747	-1.1583	9	.	.	.	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	681	Q5JR59	MTUS2_HUMAN	K	691	ENSP00000392057:E691K	.	E	+	1	0	MTUS2	28498876	1.000000	0.71417	0.968000	0.41197	0.005000	0.04900	7.040000	0.76551	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	38	7	38	---	---	---	---
USPL1	10208	broad.mit.edu	37	13	31233097	31233097	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:31233097C>T	ENST00000255304.4	+	9	3225	c.2883C>T	c.(2881-2883)tcC>tcT	p.S961S		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	961					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.S961S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTGGTGTTTCCCTGTACAGTA	0.408																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(2881-2883)TCC>TCT		ubiquitin specific peptidase like 1							162.0	163.0	162.0					13																	31233097		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233097C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2883C>T	13.37:g.31233097C>T						USPL1_uc001utd.2_Silent_p.S632S|USPL1_uc001ute.1_Silent_p.S632S	p.S961S	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3315	+		Lung SC(185;0.0257)|Breast(139;0.203)	961					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.2883C>T	CCDS9336.1																																																																																				PASS	0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		38	59	38	59	---	---	---	---
RXFP2	122042	broad.mit.edu	37	13	32352681	32352681	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:32352681C>T	ENST00000298386.2	+	9	817	c.746C>T	c.(745-747)cCc>cTc	p.P249L	RXFP2_ENST00000380314.1_Missense_Mutation_p.P249L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	249					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.P249L(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAAGCTCTTCCCAAGCAGATG	0.323																																						uc001utt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)CCC>CTC		relaxin/insulin-like family peptide receptor 2							124.0	131.0	129.0					13																	32352681		2203	4298	6501	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32352681C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.746C>T	13.37:g.32352681C>T	ENSP00000298386:p.Pro249Leu					RXFP2_uc010aba.2_Missense_Mutation_p.P232L	p.P249L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	9	817	+		Lung SC(185;0.0262)	249			Extracellular (Potential).|LRR 5.		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.746C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101652	0.76983	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.03663	4.31;3.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	M	0.85542	2.76	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.65684	0.937;0.852	T	0.00149	-1.1987	10	0.54805	T	0.06	.	14.881	0.70534	0.0:1.0:0.0:0.0	.	249;249	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	L	249	ENSP00000369670:P249L;ENSP00000298386:P249L	ENSP00000298386:P249L	P	+	2	0	RXFP2	31250681	0.996000	0.38824	0.945000	0.38365	0.987000	0.75469	3.932000	0.56537	2.578000	0.87016	0.655000	0.94253	CCC		PASS	0.323	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		31	95	31	95	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32818196	32818197	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:32818196_32818197CC>TT	ENST00000380250.3	+	47	7201_7202	c.6705_6706CC>TT	c.(6703-6708)ctCCct>ctTTct	p.P2236S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2236						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P2236S(2)|p.L2235L(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)		AGAAGGGCCTCCCTAGTGTGCA	0.525																																						uc001utx.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|large_intestine(1)|skin(1)	7						c.(6703-6705)CTC>CTT|c.(6706-6708)CCT>TCT		furry homolog																																				SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32818196C>T|g.chr13:32818197C>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	Exception_encountered	13.37:g.32818196_32818197delinsTT	ENSP00000369600:p.Pro2236Ser					FRY_uc010tdw.1_RNA	p.L2235L|p.P2236S	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)	47	7201|7202	+		Lung SC(185;0.0271)	2235|2236					Q9Y3N6	Silent|Missense_Mutation	SNP	ENST00000380250.3	37	c.6705C>T|c.6706C>T	CCDS41875.1																																																																																				PASS	0.525	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		11	25|26	11	25	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32841364	32841364	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:32841364C>T	ENST00000380250.3	+	55	8500	c.8004C>T	c.(8002-8004)atC>atT	p.I2668I	FRY_ENST00000542859.1_Silent_p.I38I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2668						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I2668I(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)		TCTCAGCCATCCTTGCCGCCT	0.557																																						uc001utx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(8002-8004)ATC>ATT		furry homolog							110.0	115.0	114.0					13																	32841364		2031	4188	6219	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841364C>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.8004C>T	13.37:g.32841364C>T						FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.I223I|FRY_uc001utz.2_Silent_p.I193I|FRY_uc010tdx.1_Silent_p.I38I	p.I2668I	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)	55	8500	+		Lung SC(185;0.0271)	2668					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8004C>T	CCDS41875.1																																																																																				PASS	0.557	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		23	52	23	52	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32915094	32915094	+	Missense_Mutation	SNP	C	C	T	rs431825343|rs80359608		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:32915094C>T	ENST00000380152.3	+	11	6835	c.6602C>T	c.(6601-6603)tCt>tTt	p.S2201F	BRCA2_ENST00000544455.1_Missense_Mutation_p.S2201F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2201					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2201F(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAACTTTTTCTGATGTTCCT	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6601-6603)TCT>TTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							51.0	55.0	54.0					13																	32915094		2202	4299	6501	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915094C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6602C>T	13.37:g.32915094C>T	ENSP00000369497:p.Ser2201Phe	TCGA Ovarian(8;0.087)					p.S2201F	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6829	+		Lung SC(185;0.0262)	2201					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6602C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863760	0.32884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80304	-1.36;-1.36	5.22	4.28	0.50868	.	0.919118	0.09246	N	0.828620	T	0.80221	0.4583	L	0.38175	1.15	0.09310	N	1	D	0.55385	0.971	P	0.52710	0.707	T	0.69030	-0.5253	10	0.66056	D	0.02	.	9.4186	0.38536	0.141:0.6733:0.1856:0.0	.	2201	P51587	BRCA2_HUMAN	F	2201	ENSP00000369497:S2201F;ENSP00000439902:S2201F	ENSP00000369497:S2201F	S	+	2	0	BRCA2	31813094	0.144000	0.22641	0.675000	0.29917	0.560000	0.35617	1.474000	0.35398	2.432000	0.82394	0.591000	0.81541	TCT		PASS	0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	19	12	19	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36158054	36158055	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:36158054_36158055CC>TT	ENST00000400445.3	+	46	7589_7590	c.7055_7056CC>TT	c.(7054-7056)cCC>cTT	p.P2352L	NBEA_ENST00000540320.1_Missense_Mutation_p.P2352L|NBEA_ENST00000379939.2_Missense_Mutation_p.P2349L|NBEA_ENST00000310336.4_Missense_Mutation_p.P2352L|NBEA_ENST00000537702.1_Missense_Mutation_p.P145L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2352	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.P2352L(2)|p.P2352P(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTTTGAACCCCAAGAGAGCTG	0.322																																						uc001uvb.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(9)|large_intestine(2)	11						c.(7054-7056)CCC>CTC|c.(7054-7056)CCC>CCT		neurobeachin																																				SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36158054C>T|g.chr13:36158055C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	Exception_encountered	13.37:g.36158054_36158055delinsTT	ENSP00000383295:p.Pro2352Leu					NBEA_uc010abi.2_Missense_Mutation_p.P1008L|NBEA_uc010tee.1_Missense_Mutation_p.P145L|NBEA_uc010tef.1_Missense_Mutation_p.P145L|NBEA_uc010teg.1_Missense_Mutation_p.P145L|NBEA_uc010abi.2_Silent_p.P1008P|NBEA_uc010tee.1_Silent_p.P145P|NBEA_uc010tef.1_Silent_p.P145P|NBEA_uc010teg.1_Silent_p.P145P	p.P2352L|p.P2352P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	46	7261|7262	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2352			BEACH.		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation|Silent	SNP	ENST00000400445.3	37	c.7055C>T|c.7056C>T	CCDS45026.1																																																																																				PASS	0.322	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		23	29|30	23	29	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36699922	36699922	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:36699922G>A	ENST00000360631.3	-	2	564	c.353C>T	c.(352-354)tCc>tTc	p.S118F	DCLK1_ENST00000379892.4_Missense_Mutation_p.S118F|DCLK1_ENST00000255448.4_Missense_Mutation_p.S118F			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	118	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S118F(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTCCAGGCTGGAAATCTTCTT	0.532																																						uc001uvf.2																			2	Substitution - Missense(2)		lung(2)	stomach(6)|ovary(2)|skin(1)	9						c.(352-354)TCC>TTC		doublecortin-like kinase 1							77.0	77.0	77.0					13																	36699922		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36699922G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.353C>T	13.37:g.36699922G>A	ENSP00000353846:p.Ser118Phe						p.S118F	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	586	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	118			Doublecortin 1.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.353C>T		.	.	.	.	.	.	.	.	.	.	G	19.44	3.828236	0.71143	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.92348	-3.02;-3.02;-3.02	5.59	5.59	0.84812	.	0.379428	0.30501	N	0.009493	D	0.94565	0.8249	M	0.72894	2.215	0.46167	D	0.998909	P	0.44139	0.827	P	0.51918	0.684	D	0.94710	0.7891	10	0.72032	D	0.01	.	19.5827	0.95475	0.0:0.0:1.0:0.0	.	118	O15075-2	.	F	118	ENSP00000255448:S118F;ENSP00000353846:S118F;ENSP00000369222:S118F	ENSP00000255448:S118F	S	-	2	0	DCLK1	35597922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.654000	0.54453	2.629000	0.89072	0.563000	0.77884	TCC		PASS	0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		12	35	12	35	---	---	---	---
CSNK1A1L	122011	broad.mit.edu	37	13	37679192	37679192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:37679192G>A	ENST00000379800.3	-	1	611	c.202C>T	c.(202-204)Caa>Taa	p.Q68*		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q68*(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		ACCCCACCTTGAAGAATCGTG	0.527																																						uc001uwm.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(202-204)CAA>TAA		casein kinase 1, alpha 1-like							143.0	123.0	130.0					13																	37679192		2203	4300	6503	SO:0001587	stop_gained	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679192G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.202C>T	13.37:g.37679192G>A	ENSP00000369126:p.Gln68*						p.Q68*	NM_145203	NP_660204	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	610	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	68			Protein kinase.		Q5T2N2	Nonsense_Mutation	SNP	ENST00000379800.3	37	c.202C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345100	0.61073	.	.	ENSG00000180138	ENST00000379800	.	.	.	0.778	-0.4	0.12411	.	0.059192	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.5152	0.22244	0.0:0.3443:0.6557:0.0	.	.	.	.	X	68	.	ENSP00000369126:Q68X	Q	-	1	0	CSNK1A1L	36577192	1.000000	0.71417	0.129000	0.21949	0.029000	0.11900	4.844000	0.62846	-0.215000	0.10063	-0.311000	0.09066	CAA		PASS	0.527	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		29	54	29	54	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38211570	38211570	+	Silent	SNP	G	G	A	rs374449501		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:38211570G>A	ENST00000379705.3	-	11	3261	c.2404C>T	c.(2404-2406)Ctg>Ttg	p.L802L	TRPC4_ENST00000379681.3_Silent_p.L807L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Silent_p.L629L|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Silent_p.L629L|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	802	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L802L(1)|p.L807L(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGATGAATCAGGGTGGTTAAA	0.453																																						uc001uws.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(2404-2406)CTG>TTG		transient receptor potential cation channel,							85.0	83.0	84.0					13																	38211570		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211570G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2404C>T	13.37:g.38211570G>A						TRPC4_uc010abv.2_Silent_p.L382L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.L629L|TRPC4_uc010abx.2_Silent_p.L807L|TRPC4_uc010aby.2_Intron	p.L802L	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	2639	-			802			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.2404C>T	CCDS9365.1																																																																																				PASS	0.453	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		14	23	14	23	---	---	---	---
KCTD4	386618	broad.mit.edu	37	13	45768509	45768509	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:45768509C>T	ENST00000379108.1	-	1	343	c.194G>A	c.(193-195)gGa>gAa	p.G65E	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.G65E			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	65	BTB.				protein homooligomerization (GO:0051260)			p.G65E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		GAGGATTTTTCCATTTACTAT	0.413																																						uc001uzx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGA>GAA		potassium channel tetramerisation domain							214.0	217.0	216.0					13																	45768509		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768509C>T	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.194G>A	13.37:g.45768509C>T	ENSP00000368402:p.Gly65Glu					GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron	p.G65E	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	598	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	65			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.194G>A	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089491	0.55968	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.37561	1.115	0.80722	D	1	D	0.58620	0.983	P	0.52793	0.709	T	0.44802	-0.9304	10	0.62326	D	0.03	.	19.3699	0.94480	0.0:1.0:0.0:0.0	.	65	Q8WVF5	KCTD4_HUMAN	E	65	ENSP00000368402:G65E;ENSP00000385144:G65E	ENSP00000368402:G65E	G	-	2	0	KCTD4	44666509	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.798000	0.85924	2.829000	0.97493	0.585000	0.79938	GGA		PASS	0.413	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			12	89	12	89	---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46287426	46287426	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:46287426C>T	ENST00000310521.1	+	3	346	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SPERT_ENST00000378966.3_Missense_Mutation_p.S53F	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	89						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.S89F(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCCAGCACTCCTATCCACTG	0.682																																						uc001van.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(265-267)TCC>TTC		spermatid associated							48.0	49.0	49.0					13																	46287426		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287426C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.266C>T	13.37:g.46287426C>T	ENSP00000309189:p.Ser89Phe					SPERT_uc001vao.2_Missense_Mutation_p.S53F	p.S89F	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	346	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	89					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.266C>T	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660199	0.47572	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.52754	0.65;0.65	5.1	5.1	0.69264	.	0.000000	0.47093	D	0.000252	T	0.59689	0.2212	L	0.40543	1.245	0.43255	D	0.995188	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61574	-0.7035	10	0.87932	D	0	.	13.8953	0.63768	0.0:1.0:0.0:0.0	.	53;89	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	F	89;62;53	ENSP00000309189:S89F;ENSP00000368249:S53F	ENSP00000309189:S89F	S	+	2	0	SPERT	45185427	0.976000	0.34144	1.000000	0.80357	0.057000	0.15508	1.061000	0.30542	2.653000	0.90120	0.650000	0.86243	TCC		PASS	0.682	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		10	13	10	13	---	---	---	---
SPERT	220082	broad.mit.edu	37	13	46288346	46288346	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:46288346G>A	ENST00000310521.1	+	3	1266	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	SPERT_ENST00000378966.3_Missense_Mutation_p.E360K	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	396						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.E396K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTTCCAGGAGGAGAACAAGGC	0.617																																						uc001van.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1186-1188)GAG>AAG		spermatid associated							20.0	21.0	21.0					13																	46288346		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46288346G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.1186G>A	13.37:g.46288346G>A	ENSP00000309189:p.Glu396Lys					SPERT_uc001vao.2_Missense_Mutation_p.E360K	p.E396K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	1266	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	396			Potential.		A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.1186G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480634	0.63849	.	.	ENSG00000174015	ENST00000310521;ENST00000378966	T;T	0.51817	0.7;0.69	5.17	4.32	0.51571	.	0.210436	0.33040	N	0.005351	T	0.46386	0.1390	N	0.08118	0	0.30039	N	0.812734	D;D	0.71674	0.996;0.998	D;D	0.78314	0.987;0.991	T	0.50524	-0.8818	10	0.66056	D	0.02	.	11.0167	0.47693	0.087:0.0:0.913:0.0	.	360;396	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	396;360	ENSP00000309189:E396K;ENSP00000368249:E360K	ENSP00000309189:E396K	E	+	1	0	SPERT	45186347	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.849000	0.55910	1.402000	0.46780	0.609000	0.83330	GAG		PASS	0.617	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		4	14	4	14	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543999	46543999	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:46543999G>A	ENST00000242848.4	-	14	3028	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R894C|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	894							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R894C(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTGGTTTACGATCCTCCTCT	0.453																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2680-2682)CGT>TGT		zinc finger CCCH-type containing 13							365.0	338.0	347.0					13																	46543999		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543999G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2680C>T	13.37:g.46543999G>A	ENSP00000242848:p.Arg894Cys					ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R894C|ZC3H13_uc001vat.1_Missense_Mutation_p.R894C	p.R894C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	2686	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	894					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2680C>T		.	.	.	.	.	.	.	.	.	.	G	13.82	2.351892	0.41700	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.58797	1.34;0.31	6.17	5.28	0.74379	.	0.000000	0.64402	D	0.000009	T	0.75191	0.3816	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.76187	-0.3051	10	0.66056	D	0.02	.	16.4205	0.83757	0.0:0.0:0.868:0.132	.	894;894	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	C	894	ENSP00000242848:R894C;ENSP00000282007:R894C	ENSP00000242848:R894C	R	-	1	0	ZC3H13	45442000	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.903000	0.69877	2.941000	0.99782	0.655000	0.94253	CGT		PASS	0.453	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		55	118	55	118	---	---	---	---
CPB2	1361	broad.mit.edu	37	13	46638865	46638866	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:46638865_46638866CC>TT	ENST00000181383.4	-	8	729_730	c.713_714GG>AA	c.(712-714)tGG>tAA	p.W238*	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.W201*|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	238					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.W238*(3)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGTTCTTTCTCCACATTCGATT	0.421																																						uc001vaw.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(1)|skin(1)	2						c.(712-714)TGG>TGA|c.(712-714)TGG>TAG		plasma carboxypeptidase B2 isoform a																																				SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46638865C>T|g.chr13:46638866C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.713_714delinsTT	13.37:g.46638865_46638866delinsTT	ENSP00000181383:p.Trp238*					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.W201*	p.W238*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	8	781|780	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	238					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.714G>A|c.713G>A	CCDS9401.1																																																																																				PASS	0.421	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		17	29	17	29	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46708349	46708349	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:46708349G>A	ENST00000398576.2	-	17	1927	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	LCP1_ENST00000323076.2_Silent_p.G513G|LCP1_ENST00000435666.2_Silent_p.G82G			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	513	Actin-binding 2.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.G513G(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGACCTTCTGGCCACCACCAA	0.343			T	BCL6	NHL																																	uc001vaz.3				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)	7						c.(1537-1539)GGC>GGT		L-plastin							118.0	100.0	106.0					13																	46708349		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46708349G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1539C>T	13.37:g.46708349G>A						LCP1_uc010ack.2_Silent_p.G82G|LCP1_uc001vay.3_Silent_p.G110G|LCP1_uc001vba.3_Silent_p.G513G	p.G513G	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	14	1665	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	513			Actin-binding 2.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.1539C>T	CCDS9403.1																																																																																				PASS	0.343	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		11	35	11	35	---	---	---	---
CYSLTR2	57105	broad.mit.edu	37	13	49281181	49281181	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:49281181C>T	ENST00000282018.3	+	1	231	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	76					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.F76F(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAACGTTTTCATGCTAAATC	0.413																																						uc010acx.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(226-228)TTC>TTT		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						90.0	88.0	88.0					13																	49281181		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281181C>T	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.228C>T	13.37:g.49281181C>T						CYSLTR2_uc010acy.1_Silent_p.F76F|CYSLTR2_uc010acz.1_Silent_p.F76F|CYSLTR2_uc010ada.1_Silent_p.F76F|CYSLTR2_uc010adb.1_Silent_p.F76F|CYSLTR2_uc010adc.1_Silent_p.F76F|CYSLTR2_uc010add.1_Silent_p.F76F|CYSLTR2_uc010acw.1_Silent_p.F76F|CYSLTR2_uc001vck.2_Silent_p.F76F	p.F76F	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	911	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	76			Helical; Name=2; (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.228C>T	CCDS9412.1																																																																																				PASS	0.413	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			7	26	7	26	---	---	---	---
CDADC1	81602	broad.mit.edu	37	13	49842022	49842022	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:49842022T>G	ENST00000251108.6	+	5	940	c.827T>G	c.(826-828)aTg>aGg	p.M276R	CDADC1_ENST00000444959.1_Missense_Mutation_p.M78R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	276							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.M276R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AGGCAAAACATGAAAGACCTT	0.363																																						uc001vcu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(826-828)ATG>AGG		cytidine and dCMP deaminase domain containing 1							75.0	70.0	72.0					13																	49842022		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49842022T>G	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.827T>G	13.37:g.49842022T>G	ENSP00000251108:p.Met276Arg					CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Missense_Mutation_p.M158R|CDADC1_uc010tgk.1_Missense_Mutation_p.M78R|CDADC1_uc001vcv.2_RNA	p.M276R	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	5	903	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	276					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.827T>G	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054833	0.75960	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.69179	-0.5213	9	0.72032	D	0.01	-19.867	15.1388	0.72595	0.0:0.0:0.0:1.0	.	276;276	Q9BWV3;B2R742	CDAC1_HUMAN;.	R	276;78	.	ENSP00000251108:M276R	M	+	2	0	CDADC1	48740023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.989000	0.76219	2.219000	0.72066	0.533000	0.62120	ATG		PASS	0.363	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		10	28	10	28	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51952577	51952577	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:51952577G>A	ENST00000311234.4	-	12	1872	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	INTS6_ENST00000490542.1_Missense_Mutation_p.S151F|INTS6_ENST00000425000.1_Missense_Mutation_p.S35F|INTS6_ENST00000398119.2_Missense_Mutation_p.S454F|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.S289F	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	467					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.S467F(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GACTCGATCAGATTCTATTTT	0.308																																						uc001vfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1399-1401)TCT>TTT		integrator complex subunit 6 isoform a							60.0	60.0	60.0					13																	51952577		2203	4299	6502	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51952577G>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1400C>T	13.37:g.51952577G>A	ENSP00000310260:p.Ser467Phe					INTS6_uc001vfi.2_Missense_Mutation_p.S151F|INTS6_uc001vfj.2_Missense_Mutation_p.S454F|INTS6_uc001vfl.2_Missense_Mutation_p.S289F	p.S467F	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	12	2014	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	467					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1400C>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177041	0.38413	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.08	5.08	0.68730	.	0.109181	0.64402	D	0.000005	T	0.39759	0.1090	L	0.41961	1.31	0.80722	D	1	P	0.48694	0.914	P	0.55667	0.781	T	0.06110	-1.0845	10	0.09843	T	0.71	-15.3998	17.4771	0.87662	0.0:0.0:1.0:0.0	.	467	Q9UL03	INT6_HUMAN	F	467;454;289;35;151	ENSP00000310260:S467F;ENSP00000381187:S454F;ENSP00000419871:S289F;ENSP00000406915:S35F;ENSP00000419984:S151F	ENSP00000310260:S467F	S	-	2	0	INTS6	50850578	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.427000	0.66483	2.356000	0.79943	0.563000	0.77884	TCT		PASS	0.308	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		11	21	11	21	---	---	---	---
WDFY2	115825	broad.mit.edu	37	13	52325496	52325496	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52325496C>T	ENST00000298125.5	+	8	956	c.776C>T	c.(775-777)tCc>tTc	p.S259F	WDFY2_ENST00000460145.2_3'UTR	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	259							metal ion binding (GO:0046872)	p.S259F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CAATTGATCTCCTGTGGCGGT	0.562																																						uc001vfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)TCC>TTC		WD repeat and FYVE domain containing 2							131.0	103.0	113.0					13																	52325496		2203	4300	6503	SO:0001583	missense	115825						metal ion binding	g.chr13:52325496C>T	AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.776C>T	13.37:g.52325496C>T	ENSP00000298125:p.Ser259Phe					WDFY2_uc010ads.1_Missense_Mutation_p.S259F|WDFY2_uc010adt.1_RNA	p.S259F	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	8	1116	+		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)	259			WD 6.		B1AL86|Q96CS1	Missense_Mutation	SNP	ENST00000298125.5	37	c.776C>T	CCDS9429.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916612	0.92249	.	.	ENSG00000139668	ENST00000298125	T	0.72725	-0.68	6.01	6.01	0.97437	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	H	0.99368	4.535	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.996	D	0.94827	0.7992	10	0.87932	D	0	-11.6113	19.5093	0.95135	0.0:1.0:0.0:0.0	.	156;259	Q96LK4;Q96P53	.;WDFY2_HUMAN	F	259	ENSP00000298125:S259F	ENSP00000298125:S259F	S	+	2	0	WDFY2	51223497	1.000000	0.71417	0.986000	0.45419	0.819000	0.46315	7.393000	0.79851	2.861000	0.98227	0.650000	0.86243	TCC		PASS	0.562	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3	NM_052950		8	34	8	34	---	---	---	---
CCDC70	83446	broad.mit.edu	37	13	52440034	52440034	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52440034G>A	ENST00000242819.4	+	2	816	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	174						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.E174K(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCTTGAGGGGGAGAAAGCCCT	0.557																																						uc001vfu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAG>AAG		coiled-coil domain containing 70 precursor							83.0	87.0	86.0					13																	52440034		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52440034G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.520G>A	13.37:g.52440034G>A	ENSP00000242819:p.Glu174Lys					uc010tgr.1_RNA	p.E174K	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	816	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	174					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.520G>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054446	0.36277	.	.	ENSG00000123171	ENST00000242819	T	0.40225	1.04	5.93	3.32	0.38043	.	0.380286	0.25183	N	0.032506	T	0.59155	0.2173	M	0.72118	2.19	0.32346	N	0.559034	D	0.89917	1.0	D	0.74348	0.983	T	0.66316	-0.5954	10	0.52906	T	0.07	-12.4074	9.6651	0.39979	0.2234:0.0:0.7766:0.0	.	174	Q6NSX1	CCD70_HUMAN	K	174	ENSP00000242819:E174K	ENSP00000242819:E174K	E	+	1	0	CCDC70	51338035	1.000000	0.71417	0.343000	0.25615	0.001000	0.01503	1.724000	0.38064	0.442000	0.26555	-0.768000	0.03414	GAG		PASS	0.557	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		35	69	35	69	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52548333	52548333	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52548333G>T	ENST00000242839.4	-	2	1179	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	ATP7B_ENST00000418097.2_Silent_p.S341S|ATP7B_ENST00000448424.2_Silent_p.S341S|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Silent_p.S341S|ATP7B_ENST00000542656.1_Silent_p.S309S|ATP7B_ENST00000344297.5_Silent_p.S341S|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	341	Poly-Ser.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.S341S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATGAGAACTGGAAGACCTGT	0.557									Wilson disease																													uc001vfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1021-1023)TCC>TCA		ATPase, Cu++ transporting, beta polypeptide							87.0	86.0	86.0					13																	52548333		1940	4141	6081	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548333G>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1023C>A	13.37:g.52548333G>T						ATP7B_uc010adv.2_Silent_p.S341S|ATP7B_uc001vfx.2_Silent_p.S341S|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Silent_p.S341S|ATP7B_uc010tgu.1_Silent_p.S341S|ATP7B_uc010tgv.1_Silent_p.S341S|ATP7B_uc010tgw.1_Silent_p.S309S	p.S341S	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1180	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	341			Poly-Ser.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1023C>A	CCDS41892.1																																																																																				PASS	0.557	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		27	56	27	56	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52548915	52548915	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52548915G>A	ENST00000242839.4	-	2	597	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ATP7B_ENST00000418097.2_Silent_p.L147L|ATP7B_ENST00000448424.2_Silent_p.L147L|ATP7B_ENST00000400366.3_Silent_p.L147L|ATP7B_ENST00000400370.3_Silent_p.L147L|ATP7B_ENST00000542656.1_Silent_p.L115L|ATP7B_ENST00000344297.5_Silent_p.L147L|ATP7B_ENST00000482841.1_5'Flank	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	147	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.L147L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTCCACCCGGAGCTTGACCA	0.577									Wilson disease																													uc001vfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(439-441)CTC>CTT		ATPase, Cu++ transporting, beta polypeptide							46.0	47.0	47.0					13																	52548915		2009	4176	6185	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548915G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.441C>T	13.37:g.52548915G>A						ATP7B_uc010adv.2_Silent_p.L147L|ATP7B_uc001vfx.2_Silent_p.L147L|ATP7B_uc001vfy.2_Silent_p.L147L|ATP7B_uc010tgt.1_Silent_p.L147L|ATP7B_uc010tgu.1_Silent_p.L147L|ATP7B_uc010tgv.1_Silent_p.L147L|ATP7B_uc010tgw.1_Silent_p.L115L	p.L147L	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	598	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	147			HMA 2.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.441C>T	CCDS41892.1																																																																																				PASS	0.577	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		17	12	17	12	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52604646	52604646	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52604646C>T	ENST00000521776.2	+	2	2439	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	569					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.S569F(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CAGTCTCCTTCCGTGAGGTCT	0.483																																						uc001vgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|breast(1)	5						c.(1705-1707)TCC>TTC		UTP14, U3 small nucleolar ribonucleoprotein,							91.0	91.0	91.0					13																	52604646		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604646C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1706C>T	13.37:g.52604646C>T	ENSP00000428619:p.Ser569Phe					UTP14C_uc001vgc.2_RNA	p.S569F	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2241	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	569					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1706C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206259	0.22205	.	.	ENSG00000253797	ENST00000521776	T	0.18960	2.18	2.9	-0.455	0.12193	.	0.690144	0.15544	N	0.256796	T	0.29321	0.0730	M	0.81682	2.555	0.09310	N	1	P	0.52316	0.952	P	0.52386	0.697	T	0.17715	-1.0360	9	.	.	.	-6.1607	1.0196	0.01515	0.2347:0.385:0.2307:0.1497	.	569	Q5TAP6	UT14C_HUMAN	F	569	ENSP00000428619:S569F	.	S	+	2	0	UTP14C	51502647	0.000000	0.05858	0.276000	0.24689	0.234000	0.25298	-0.846000	0.04336	0.082000	0.17018	0.455000	0.32223	TCC		PASS	0.483	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		29	83	29	83	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52952155	52952155	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52952155G>A	ENST00000258613.4	-	5	2128	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	THSD1_ENST00000544466.1_Silent_p.F271F|THSD1_ENST00000349258.4_Silent_p.F597F	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	650					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.F650F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTGTCCTCCTGAAATGGGCGT	0.632																																						uc001vgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1948-1950)TTC>TTT		thrombospondin type I domain-containing 1							44.0	45.0	45.0					13																	52952155		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952155G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1950C>T	13.37:g.52952155G>A						THSD1_uc001vgp.2_Silent_p.F597F|THSD1_uc010tgz.1_Silent_p.F271F|THSD1_uc010aea.2_Silent_p.F111F	p.F650F	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2495	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	650			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1950C>T	CCDS9432.1																																																																																				PASS	0.632	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			4	13	4	13	---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52971669	52971669	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:52971669A>G	ENST00000258613.4	-	3	897	c.719T>C	c.(718-720)tTt>tCt	p.F240S	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.F240S	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	240					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.F240S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TTTGTATCCAAATTTCTGGGC	0.562																																						uc001vgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(718-720)TTT>TCT		thrombospondin type I domain-containing 1							53.0	52.0	52.0					13																	52971669		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971669A>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.719T>C	13.37:g.52971669A>G	ENSP00000258613:p.Phe240Ser					THSD1_uc001vgp.2_Missense_Mutation_p.F240S|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	p.F240S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1264	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	240			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.719T>C	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089317	0.76756	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.23147	1.92;2.15	5.72	4.53	0.55603	.	0.054738	0.64402	D	0.000001	T	0.50871	0.1641	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.53739	-0.8396	10	0.66056	D	0.02	-11.238	12.3125	0.54935	0.8585:0.1415:0.0:0.0	.	240;240	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	S	240	ENSP00000340650:F240S;ENSP00000258613:F240S	ENSP00000258613:F240S	F	-	2	0	THSD1	51869670	1.000000	0.71417	0.784000	0.31847	0.976000	0.68499	7.871000	0.87180	0.975000	0.38392	0.459000	0.35465	TTT		PASS	0.562	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			6	13	6	13	---	---	---	---
LECT1	11061	broad.mit.edu	37	13	53282789	53282789	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:53282789G>A	ENST00000377962.3	-	6	749	c.671C>T	c.(670-672)aCc>aTc	p.T224I	LECT1_ENST00000448904.2_Missense_Mutation_p.T224I			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	224					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.T224I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TCTTTTTGTGGTAGTTGGAAC	0.393																																						uc001vhf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(670-672)ACC>ATC		leukocyte cell derived chemotaxin 1 isoform 1							205.0	187.0	193.0					13																	53282789		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282789G>A	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.671C>T	13.37:g.53282789G>A	ENSP00000367198:p.Thr224Ile					LECT1_uc001vhg.2_Missense_Mutation_p.T224I|LECT1_uc001vhh.2_Missense_Mutation_p.T213I	p.T224I	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	782	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	224					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.671C>T	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010001	0.54361	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.30981	1.51;1.51	5.06	5.06	0.68205	.	0.288076	0.33712	N	0.004640	T	0.40473	0.1118	L	0.59436	1.845	0.37399	D	0.912753	D;P	0.53151	0.958;0.93	P;B	0.47981	0.563;0.36	T	0.42120	-0.9470	10	0.38643	T	0.18	.	18.7938	0.91985	0.0:0.0:1.0:0.0	.	224;224	O75829-2;O75829	.;LECT1_HUMAN	I	224	ENSP00000388576:T224I;ENSP00000367198:T224I	ENSP00000367198:T224I	T	-	2	0	LECT1	52180790	0.977000	0.34250	0.966000	0.40874	0.490000	0.33462	3.546000	0.53656	2.526000	0.85167	0.555000	0.69702	ACC		PASS	0.393	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			28	41	28	41	---	---	---	---
TDRD3	81550	broad.mit.edu	37	13	61041372	61041373	+	Splice_Site	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:61041372_61041373CC>TT	ENST00000196169.3	+	5	863_864	c.75_76CC>TT	c.(73-78)agCCtg>agTTtg	p.25_26SL>SL	TDRD3_ENST00000377894.2_Splice_Site_p.25_26SL>SL|TDRD3_ENST00000377881.2_Splice_Site_p.25_26SL>SL|TDRD3_ENST00000535286.1_Splice_Site_p.118_119SL>SL	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	25					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.L26L(1)|p.(=)(1)|p.S25S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TTTGCTTTAGCCTGAACACACC	0.455																																					Colon(36;164 906 35820 50723)	uc001via.2																			3	Substitution - coding silent(2)|Unknown(1)		lung(3)	upper_aerodigestive_tract(1)|skin(1)	2						c.(73-75)AGC>AGT|c.(76-78)CTG>TTG		tudor domain containing 3 isoform 2																																				SO:0001630	splice_region_variant	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61041372C>T|g.chr13:61041373C>T	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	Exception_encountered	13.37:g.61041372_61041373delinsTT						TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.S25S|TDRD3_uc010aeg.2_Silent_p.S118S|TDRD3_uc001vib.3_Silent_p.S25S|TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.L26L|TDRD3_uc010aeg.2_Silent_p.L119L|TDRD3_uc001vib.3_Silent_p.L26L	p.S25S|p.L26L	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	5	863|864	+		Prostate(109;0.173)|Breast(118;0.174)	25|26					B2MWP9|Q53XA6|Q6P992	Silent	SNP	ENST00000196169.3	37	c.75C>T|c.76C>T	CCDS9441.1																																																																																				PASS	0.455	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	Silent	25	46	25	46	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801516	67801516	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:67801516C>T	ENST00000377865.2	-	1	1191	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D353N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D353N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D353N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D353N			Q9HC56	PCDH9_HUMAN	protocadherin 9	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D353N(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGGTTATCATTTACATCG	0.448																																						uc001vik.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1057-1059)GAT>AAT		protocadherin 9 isoform 1 precursor							151.0	148.0	149.0					13																	67801516		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801516C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1057G>A	13.37:g.67801516C>T	ENSP00000367096:p.Asp353Asn					PCDH9_uc001vil.2_Missense_Mutation_p.D353N|PCDH9_uc010thl.1_Missense_Mutation_p.D353N|PCDH9_uc001vin.3_Missense_Mutation_p.D353N	p.D353N	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1749	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	353			Extracellular (Potential).|Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1057G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965616	0.74131	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.17	6.17	0.99709	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.91635	0.874;0.999;0.999;0.999	T	0.82744	-0.0306	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	353;353;353;353	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	353	ENSP00000442186:D353N;ENSP00000367096:D353N;ENSP00000401699:D353N;ENSP00000332060:D353N;ENSP00000367092:D353N	ENSP00000332060:D353N	D	-	1	0	PCDH9	66699517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.448	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		24	56	24	56	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67802142	67802142	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:67802142G>A	ENST00000377865.2	-	1	565	c.431C>T	c.(430-432)tCt>tTt	p.S144F	PCDH9_ENST00000328454.5_Missense_Mutation_p.S144F|PCDH9_ENST00000377861.3_Missense_Mutation_p.S144F|PCDH9_ENST00000456367.1_Missense_Mutation_p.S144F|PCDH9_ENST00000544246.1_Missense_Mutation_p.S144F			Q9HC56	PCDH9_HUMAN	protocadherin 9	144	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S144F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATGACAGGAGATGGAAACAT	0.408																																						uc001vik.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(430-432)TCT>TTT		protocadherin 9 isoform 1 precursor							107.0	106.0	106.0					13																	67802142		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802142G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.431C>T	13.37:g.67802142G>A	ENSP00000367096:p.Ser144Phe					PCDH9_uc001vil.2_Missense_Mutation_p.S144F|PCDH9_uc010thl.1_Missense_Mutation_p.S144F|PCDH9_uc001vin.3_Missense_Mutation_p.S144F	p.S144F	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1123	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	144			Extracellular (Potential).|Cadherin 2.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.431C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061900	0.55432	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.04	6.04	0.98038	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.71674	0.99;0.995;0.998;0.997	P;P;D;D	0.69479	0.76;0.862;0.964;0.921	T	0.51849	-0.8653	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	144;144;144;144	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	F	144	ENSP00000442186:S144F;ENSP00000367096:S144F;ENSP00000401699:S144F;ENSP00000332060:S144F;ENSP00000367092:S144F	ENSP00000332060:S144F	S	-	2	0	PCDH9	66700143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.873000	0.98535	0.561000	0.74099	TCT		PASS	0.408	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		24	56	24	56	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72053449	72053449	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:72053449C>T	ENST00000359684.2	-	9	1884		c.e9-1		DACH1_ENST00000313174.7_Splice_Site|DACH1_ENST00000354591.4_Splice_Site|DACH1_ENST00000305425.4_Splice_Site			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1						cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.?(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCAACAGCCCCTGTACAAAGA	0.358																																						uc010thn.1																			1	Unknown(1)		lung(1)	breast(1)	1						c.e9-1		dachshund homolog 1 isoform a							107.0	100.0	102.0					13																	72053449		1802	4076	5878	SO:0001630	splice_region_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053449C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1885-1G>A	13.37:g.72053449C>T						DACH1_uc010tho.1_Splice_Site_p.G427_splice|DACH1_uc010thp.1_Splice_Site_p.G373_splice	p.G575_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2146	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)						D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Splice_Site	SNP	ENST00000359684.2	37	c.1723_splice		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418741	0.83559	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	5.83	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.894	0.70630	0.0:0.9316:0.0:0.0684	.	.	.	.	.	-1	.	.	.	-	.	.	DACH1	70951450	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	1.488000	0.48433	0.655000	0.94253	.		PASS	0.358	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	Intron	8	54	8	54	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73357624	73357624	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:73357624C>T	ENST00000326291.6	+	2	355	c.17C>T	c.(16-18)tCa>tTa	p.S6L	DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000475871.1_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	6						centrosome (GO:0005813)		p.S6L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGAAAAATTTCAAAGGAGTCA	0.279																																						uc001vjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(16-18)TCA>TTA		progesterone-induced blocking factor 1							47.0	51.0	50.0					13																	73357624		2203	4299	6502	SO:0001583	missense	10464					centrosome		g.chr13:73357624C>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.17C>T	13.37:g.73357624C>T	ENSP00000317144:p.Ser6Leu					PIBF1_uc001vja.1_Missense_Mutation_p.S6L|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.S6L|PIBF1_uc010aep.2_Intron|DIS3_uc001viy.3_5'Flank|DIS3_uc001vix.3_5'Flank|DIS3_uc001viz.2_5'Flank	p.S6L	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	2	322	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	6					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.17C>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879047	0.51801	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.25414	1.8	5.41	4.56	0.56223	.	1.197950	0.05633	N	0.582116	T	0.27798	0.0684	L	0.29908	0.895	0.35385	D	0.79024	B;B	0.22414	0.069;0.069	B;B	0.24701	0.055;0.034	T	0.11542	-1.0583	10	0.52906	T	0.07	1.0976	16.1537	0.81640	0.0:0.8663:0.1337:0.0	.	6;6	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	L	6	ENSP00000317144:S6L	ENSP00000317144:S6L	S	+	2	0	PIBF1	72255625	0.201000	0.23410	0.424000	0.26647	0.996000	0.88848	3.067000	0.50010	1.277000	0.44412	0.484000	0.47621	TCA		PASS	0.279	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		21	38	21	38	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73428285	73428285	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:73428285C>T	ENST00000326291.6	+	10	1652	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	AL391384.1_ENST00000408054.1_RNA	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	438						centrosome (GO:0005813)		p.L438L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ACGATCAGCTCTTAGACAGGT	0.328																																						uc001vjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1312-1314)CTC>CTT		progesterone-induced blocking factor 1							94.0	96.0	96.0					13																	73428285		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73428285C>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1314C>T	13.37:g.73428285C>T						PIBF1_uc001vja.1_Silent_p.L438L|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.L438L|PIBF1_uc010aep.2_Intron	p.L438L	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	10	1619	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	438					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.1314C>T	CCDS31991.1																																																																																				PASS	0.328	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		8	42	8	42	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75876395	75876395	+	Silent	SNP	C	C	T	rs367622658		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:75876395C>T	ENST00000377636.3	-	16	3241	c.2895G>A	c.(2893-2895)gcG>gcA	p.A965A	TBC1D4_ENST00000431480.2_Silent_p.A957A|TBC1D4_ENST00000425511.1_Silent_p.A129A|TBC1D4_ENST00000377625.2_Silent_p.A902A|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	965	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.A965A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCACGAGAATCGCATGCTGCT	0.388																																						uc001vjl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2893-2895)GCG>GCA		TBC1 domain family, member 4		C		1,3781		0,1,1890	130.0	118.0	122.0		2895	-11.7	0.2	13		122	0,8266		0,0,4133	no	coding-synonymous	TBC1D4	NM_014832.2		0,1,6023	TT,TC,CC		0.0,0.0264,0.0083		965/1299	75876395	1,12047	1891	4133	6024	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75876395C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2895G>A	13.37:g.75876395C>T						TBC1D4_uc010tht.1_Silent_p.A175A|TBC1D4_uc010thu.1_Silent_p.A122A|TBC1D4_uc010aer.2_Silent_p.A957A|TBC1D4_uc010aes.2_Silent_p.A902A	p.A965A	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	16	3242	-		Prostate(6;0.014)|Breast(118;0.0982)	965			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2895G>A	CCDS41901.1																																																																																				PASS	0.388	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		11	30	11	30	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75886895	75886895	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:75886895G>A	ENST00000377636.3	-	13	2708	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P780S|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P5S|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P725S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	788					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P788S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATTGCTGAGGGAGATTTGTTC	0.498																																						uc001vjl.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2362-2364)CCC>TCC		TBC1 domain family, member 4							83.0	85.0	84.0					13																	75886895		1941	4148	6089	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75886895G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2362C>T	13.37:g.75886895G>A	ENSP00000366863:p.Pro788Ser					TBC1D4_uc010tht.1_5'UTR|TBC1D4_uc010thu.1_5'UTR|TBC1D4_uc010aer.2_Missense_Mutation_p.P780S|TBC1D4_uc010aes.2_Missense_Mutation_p.P725S	p.P788S	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	13	2709	-		Prostate(6;0.014)|Breast(118;0.0982)	788					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2362C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301161	0.60195	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.39787	1.06;1.06;1.06;3.83;1.06	5.35	5.35	0.76521	.	0.166826	0.42294	D	0.000721	T	0.35451	0.0932	L	0.40543	1.245	0.44234	D	0.997077	B;B;B	0.24368	0.022;0.082;0.102	B;B;B	0.24394	0.022;0.053;0.028	T	0.09729	-1.0661	10	0.17369	T	0.5	-16.5025	16.472	0.84114	0.0:0.1307:0.8692:0.0	.	725;780;788	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	S	788;780;725;5;237	ENSP00000366863:P788S;ENSP00000395986:P780S;ENSP00000366852:P725S;ENSP00000390654:P5S;ENSP00000396932:P237S	ENSP00000366852:P725S	P	-	1	0	TBC1D4	74784896	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	1.174000	0.31932	2.668000	0.90789	0.655000	0.94253	CCC		PASS	0.498	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		15	26	15	26	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328487	88328487	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:88328487G>A	ENST00000325089.6	+	2	1063	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E41K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	282	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.E282*(1)|p.E282K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCAAGCAGGAACTTTGCCC	0.542																																						uc001vln.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(844-846)GAA>AAA		SLIT and NTRK-like family, member 5 precursor							79.0	81.0	80.0					13																	88328487		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328487G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.844G>A	13.37:g.88328487G>A	ENSP00000366283:p.Glu282Lys					SLITRK5_uc010tic.1_Missense_Mutation_p.E41K	p.E282K	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1063	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		282			LRRCT 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.844G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163491	0.78226	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.48836	0.8;0.8	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.59967	1.855	0.58432	D	0.999999	D;P	0.56035	0.974;0.947	P;P	0.55615	0.78;0.78	T	0.56541	-0.7962	9	.	.	.	-10.5001	17.464	0.87627	0.0:0.0:1.0:0.0	.	41;282	B4DSH5;O94991	.;SLIK5_HUMAN	K	282;41	ENSP00000366283:E282K;ENSP00000442244:E41K	.	E	+	1	0	SLITRK5	87126488	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.637000	0.83313	2.724000	0.93272	0.491000	0.48974	GAA		PASS	0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	39	19	39	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328520	88328520	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:88328520G>A	ENST00000325089.6	+	2	1096	c.877G>A	c.(877-879)Gag>Aag	p.E293K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	293					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.E293K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTCTGACTACGAGATGAGGCC	0.537																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(877-879)GAG>AAG		SLIT and NTRK-like family, member 5 precursor							69.0	74.0	73.0					13																	88328520		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328520G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.877G>A	13.37:g.88328520G>A	ENSP00000366283:p.Glu293Lys					SLITRK5_uc010tic.1_Missense_Mutation_p.E52K	p.E293K	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1096	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		293			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.877G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402968	0.42613	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	.	0.324591	0.32328	N	0.006244	T	0.46889	0.1416	M	0.70275	2.135	0.44937	D	0.997957	P;P	0.52692	0.955;0.955	B;B	0.42319	0.383;0.383	T	0.49643	-0.8918	9	.	.	.	-19.7588	17.464	0.87627	0.0:0.0:1.0:0.0	.	52;293	B4DSH5;O94991	.;SLIK5_HUMAN	K	293;52	ENSP00000366283:E293K;ENSP00000442244:E52K	.	E	+	1	0	SLITRK5	87126521	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	6.278000	0.72614	2.724000	0.93272	0.491000	0.48974	GAG		PASS	0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	36	23	36	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92345891	92345891	+	Missense_Mutation	SNP	C	C	T	rs141328977	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:92345891C>T	ENST00000377067.3	+	3	1148	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	259					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.P259L(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)				CAATACTGCCCGCACTGCCAA	0.552																																						uc010tif.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(775-777)CCG>CTG		glypican 5 precursor		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	66.0		776	5.4	1.0	13	dbSNP_134	66	0,8600		0,0,4300	no	missense	GPC5	NM_004466.4	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	259/573	92345891	1,13005	2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345891C>T	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.776C>T	13.37:g.92345891C>T	ENSP00000366267:p.Pro259Leu						p.P259L	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1142	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	259					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.776C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302814	0.81136	2.27E-4	0.0	ENSG00000179399	ENST00000377067	T	0.76186	-1.0	5.45	5.45	0.79879	Glypican, conserved site (1);	0.051552	0.85682	D	0.000000	D	0.87947	0.6306	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89563	0.3808	10	0.87932	D	0	.	18.3334	0.90279	0.0:1.0:0.0:0.0	.	259	P78333	GPC5_HUMAN	L	259	ENSP00000366267:P259L	ENSP00000366267:P259L	P	+	2	0	GPC5	91143892	1.000000	0.71417	0.996000	0.52242	0.619000	0.37552	7.818000	0.86416	2.566000	0.86566	0.585000	0.79938	CCG		PASS	0.552	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		20	25	20	25	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95121299	95121299	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:95121299C>T	ENST00000377028.5	-	2	709	c.296G>A	c.(295-297)gGa>gAa	p.G99E	DCT_ENST00000446125.1_Splice_Site_p.G99E|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	99					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.G99E(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCAAAGTTTCCTAGTTCACA	0.438																																						uc001vlv.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(295-297)GGA>GAA		dopachrome tautomerase isoform 1							73.0	81.0	78.0					13																	95121299		2203	4300	6503	SO:0001630	splice_region_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121299C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.296-1G>A	13.37:g.95121299C>T						DCT_uc010afh.2_Missense_Mutation_p.G99E	p.G99E	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	723	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	99			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.296G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083689	0.76642	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.88741	-2.42;-2.42	5.65	4.62	0.57501	Uncharacterised domain, di-copper centre (2);	0.103770	0.64402	D	0.000002	D	0.92309	0.7560	M	0.75777	2.31	0.80722	D	1	D;D	0.58268	0.982;0.978	P;P	0.56434	0.798;0.672	D	0.92101	0.5688	9	.	.	.	.	15.4714	0.75441	0.0:0.9226:0.0:0.0774	.	99;99	Q09GT4;P40126	.;TYRP2_HUMAN	E	99	ENSP00000366227:G99E;ENSP00000392762:G99E	.	G	-	2	0	DCT	93919300	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.644000	0.61397	2.646000	0.89796	0.655000	0.94253	GGA		PASS	0.438	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		Missense_Mutation	31	63	31	63	---	---	---	---
CLDN10	9071	broad.mit.edu	37	13	96230168	96230168	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:96230168G>A	ENST00000299339.2	+	5	616	c.587G>A	c.(586-588)gGg>gAg	p.G196E	CLDN10_ENST00000376873.3_Missense_Mutation_p.G194E	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	196					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G194E(1)|p.G196E(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			ACATACAACGGGGCCACATCT	0.378																																						uc001vmh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(586-588)GGG>GAG		claudin 10 isoform b							116.0	113.0	114.0					13																	96230168		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96230168G>A	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.587G>A	13.37:g.96230168G>A	ENSP00000299339:p.Gly196Glu					CLDN10_uc001vmg.2_Missense_Mutation_p.G194E|CLDN10_uc010tii.1_Missense_Mutation_p.G175E|DZIP1_uc010afn.2_Intron	p.G196E	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		5	648	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		196			Cytoplasmic (Potential).		Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	c.587G>A	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772570	0.69992	.	.	ENSG00000134873	ENST00000376873;ENST00000299339	D;D	0.92149	-2.98;-2.77	4.97	4.97	0.65823	.	13.484300	0.00166	N	0.000002	D	0.90342	0.6978	N	0.19112	0.55	0.80722	D	1	P;P;P	0.43885	0.751;0.751;0.82	B;B;P	0.45753	0.319;0.319;0.492	T	0.75827	-0.3180	10	0.19147	T	0.46	.	16.4387	0.83894	0.0:0.0:1.0:0.0	.	196;196;194	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	E	194;196	ENSP00000366069:G194E;ENSP00000299339:G196E	ENSP00000299339:G196E	G	+	2	0	CLDN10	95028169	1.000000	0.71417	0.950000	0.38849	0.962000	0.63368	6.048000	0.71046	2.291000	0.77112	0.650000	0.86243	GGG		PASS	0.378	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984		14	20	14	20	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96555192	96555192	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:96555192C>A	ENST00000376747.3	-	21	2488	c.2418G>T	c.(2416-2418)ttG>ttT	p.L806F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	806					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.L806F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GAAAGCTTCTCAAAAACATGT	0.338																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2416-2418)TTG>TTT		UDP-glucose ceramide glucosyltransferase-like 2							99.0	105.0	103.0					13																	96555192		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555192C>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2418G>T	13.37:g.96555192C>A	ENSP00000365938:p.Leu806Phe						p.L806F	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			21	2588	-			806					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2418G>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	6.262	0.416429	0.11870	.	.	ENSG00000102595	ENST00000376747	T	0.08896	3.04	5.66	3.67	0.42095	.	0.216007	0.41097	D	0.000956	T	0.14056	0.0340	M	0.67953	2.075	0.50813	D	0.999892	P	0.49961	0.93	P	0.48304	0.573	T	0.01349	-1.1378	10	0.49607	T	0.09	-10.6601	9.1607	0.37021	0.0:0.7404:0.0:0.2596	.	806	Q9NYU1	UGGG2_HUMAN	F	806	ENSP00000365938:L806F	ENSP00000365938:L806F	L	-	3	2	UGGT2	95353193	0.993000	0.37304	0.852000	0.33557	0.060000	0.15804	0.474000	0.22148	1.393000	0.46605	0.650000	0.86243	TTG		PASS	0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		20	33	20	33	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99037085	99037085	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:99037085C>T	ENST00000319562.6	+	7	863	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	FARP1_ENST00000595437.1_Missense_Mutation_p.H200Y|FARP1_ENST00000376586.2_Missense_Mutation_p.H200Y	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	200	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H200Y(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGTGGAATTTCACCATAACCA	0.463																																						uc001vnj.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(598-600)CAC>TAC		FERM, RhoGEF, and pleckstrin domain protein 1							175.0	153.0	160.0					13																	99037085		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99037085C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.598C>T	13.37:g.99037085C>T	ENSP00000322926:p.His200Tyr					FARP1_uc001vnh.2_Missense_Mutation_p.H200Y	p.H200Y	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		7	934	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		200			FERM.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.598C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912163	0.92178	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.77358	-1.09;-1.09	5.78	5.78	0.91487	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88016	0.6324	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87880	0.2677	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	200;200	Q9Y4F1;C9JME2	FARP1_HUMAN;.	Y	200	ENSP00000365771:H200Y;ENSP00000322926:H200Y	ENSP00000322926:H200Y	H	+	1	0	FARP1	97835086	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.228000	0.78079	2.894000	0.99253	0.591000	0.81541	CAC		PASS	0.463	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		15	36	15	36	---	---	---	---
UBAC2	337867	broad.mit.edu	37	13	100008450	100008450	+	Intron	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:100008450C>A	ENST00000403766.3	+	8	942				MIR623_ENST00000384986.1_RNA|UBAC2_ENST00000460562.1_Intron|UBAC2_ENST00000376440.2_Intron	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2						protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAGCTTCCCGATGTACTCT	0.522																																						hsa-mir-623|MI0003637																			0					0															467.0	410.0	427.0					13																	100008450		1568	3582	5150	SO:0001627	intron_variant	693208							g.chr13:100008450C>A	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.808-11591C>A	13.37:g.100008450C>A						UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Intron										+								B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	RNA	SNP	ENST00000403766.3	37	c.66C>A	CCDS45064.1																																																																																				PASS	0.522	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		6	197	6	197	---	---	---	---
CLYBL	171425	broad.mit.edu	37	13	100515265	100515265	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:100515265C>T	ENST00000376360.1	+	4	486	c.459C>T	c.(457-459)ttC>ttT	p.F153F	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000339105.4_Silent_p.F153F|CLYBL_ENST00000376354.1_Intron			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	153						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.F153F(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATTTTCATTCCACTTAAAAG	0.353																																						uc001vok.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)TTC>TTT		citrate lyase beta like precursor							80.0	77.0	78.0					13																	100515265		2203	4300	6503	SO:0001819	synonymous_variant	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100515265C>T	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.459C>T	13.37:g.100515265C>T						CLYBL_uc010tix.1_Silent_p.F153F|CLYBL_uc010tiy.1_Intron	p.F153F	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			4	473	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		153					Q5W0F7|Q8TDH8	Silent	SNP	ENST00000376360.1	37	c.459C>T	CCDS32002.1																																																																																				PASS	0.353	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			6	30	6	30	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	107823060	107823060	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:107823060G>A	ENST00000375915.2	-	3	1300	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	388						integral component of membrane (GO:0016021)		p.P388S(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						CCTTTGGATGGGTTATTTGAT	0.458																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1162-1164)CCA>TCA		family with sequence similarity 155, member A							242.0	185.0	204.0					13																	107823060		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107823060G>A	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.1162C>T	13.37:g.107823060G>A	ENSP00000365080:p.Pro388Ser						p.P388S	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			3	1678	-			388					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.1162C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	0.195	-1.049755	0.01981	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.52	3.62	0.41486	.	0.436432	0.23382	N	0.048785	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12682	-1.0538	9	0.11485	T	0.65	.	12.823	0.57704	0.0:0.1293:0.7464:0.1243	.	388	B1AL88	F155A_HUMAN	S	388	.	ENSP00000365080:P388S	P	-	1	0	FAM155A	106621061	1.000000	0.71417	0.049000	0.19019	0.114000	0.19823	4.612000	0.61169	1.291000	0.44653	0.638000	0.83543	CCA		PASS	0.458	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	18	3	18	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108862306	108862306	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:108862306G>A	ENST00000356922.4	-	2	1583	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	LIG4_ENST00000442234.1_Silent_p.I437I|LIG4_ENST00000405925.1_Silent_p.I437I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	437					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.I437I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTGGCTTGTAGATGGATAGAG	0.343								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)ATC>ATT	NHEJ	DNA ligase IV							174.0	176.0	175.0					13																	108862306		2203	4299	6502	SO:0001819	synonymous_variant	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862306G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1311C>T	13.37:g.108862306G>A						LIG4_uc001vqo.2_Silent_p.I437I|LIG4_uc010agg.1_Silent_p.I370I|LIG4_uc010agf.2_Silent_p.I437I|LIG4_uc001vqp.2_Silent_p.I437I	p.I437I	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1584	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		437					Q8IY66|Q8TEU5	Silent	SNP	ENST00000356922.4	37	c.1311C>T	CCDS9508.1																																																																																				PASS	0.343	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		34	108	34	108	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109672195	109672195	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:109672195G>A	ENST00000357550.2	+	22	2707	c.2666G>A	c.(2665-2667)gGg>gAg	p.G889E	MYO16_ENST00000356711.2_Missense_Mutation_p.G889E|MYO16_ENST00000457511.2_Missense_Mutation_p.G401E|MYO16_ENST00000251041.5_Missense_Mutation_p.G889E	NM_001198950.1	NP_001185879.1			myosin XVI									p.G889E(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATGAAGGATGGGAATGGGAAT	0.443																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2665-2667)GGG>GAG		myosin heavy chain Myr 8							113.0	101.0	105.0					13																	109672195		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109672195G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2666G>A	13.37:g.109672195G>A	ENSP00000350160:p.Gly889Glu					MYO16_uc010agk.1_Missense_Mutation_p.G911E|MYO16_uc001vqu.1_Missense_Mutation_p.G689E|MYO16_uc010tjh.1_Missense_Mutation_p.G401E	p.G889E	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		23	2792	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		889			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2666G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012412	0.54468	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.98	4.98	0.66077	Myosin head, motor domain (2);	0.000000	0.41001	U	0.000964	D	0.92509	0.7621	M	0.66506	2.035	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92224	0.5787	9	.	.	.	.	17.2724	0.87106	0.0:0.0:1.0:0.0	.	401;889;889	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	E	889;889;889;889;677;401	ENSP00000349145:G889E;ENSP00000350160:G889E;ENSP00000251041:G889E;ENSP00000401633:G401E	.	G	+	2	0	MYO16	108470196	1.000000	0.71417	0.708000	0.30435	0.137000	0.21094	7.299000	0.78831	2.312000	0.78011	0.650000	0.86243	GGG		PASS	0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		23	34	23	34	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110826824	110826824	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:110826824C>T	ENST00000375820.4	-	39	3496	c.3375G>A	c.(3373-3375)ttG>ttA	p.L1125L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1125	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.L768L(1)|p.L1125L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGATGCCATCCAATCCTGGGA	0.517																																						uc001vqw.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3373-3375)TTG>TTA		alpha 1 type IV collagen preproprotein							57.0	57.0	57.0					13																	110826824		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110826824C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3375G>A	13.37:g.110826824C>T						COL4A1_uc010agl.2_Intron	p.L1125L	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		39	3497	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1125			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.3375G>A	CCDS9511.1																																																																																				PASS	0.517	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	13	9	13	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113212713	113212713	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:113212713A>G	ENST00000261965.3	-	5	531	c.345T>C	c.(343-345)gcT>gcC	p.A115A	TUBGCP3_ENST00000375669.3_Silent_p.A115A	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	115					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.A115A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAATAACGTAGCATAGCTAG	0.453																																						uc001vse.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(343-345)GCT>GCC		tubulin, gamma complex associated protein 3							96.0	93.0	94.0					13																	113212713		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113212713A>G	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.345T>C	13.37:g.113212713A>G						TUBGCP3_uc010tjq.1_Intron|TUBGCP3_uc001vsf.2_Silent_p.A115A|TUBGCP3_uc001vsg.1_Silent_p.A115A	p.A115A	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			5	532	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		115					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.345T>C	CCDS9525.1																																																																																				PASS	0.453	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		5	20	5	20	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113514664	113514664	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:113514664C>T	ENST00000487903.1	+	24	2879	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	ATP11A_ENST00000283558.8_Silent_p.L931L|ATP11A_ENST00000375630.2_Silent_p.L931L|ATP11A_ENST00000375645.3_Silent_p.L931L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	931					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L931L(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCCCATCCTCCTGTACAGCCT	0.537																																						uc001vsi.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(2791-2793)CTG>TTG		ATPase, class VI, type 11A isoform a							207.0	180.0	189.0					13																	113514664		2203	4300	6503	SO:0001819	synonymous_variant	23250				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.chr13:113514664C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2791C>T	13.37:g.113514664C>T						ATP11A_uc001vsj.3_Silent_p.L931L|ATP11A_uc001vsm.1_Silent_p.L807L|ATP11A_uc010ago.2_Intron	p.L931L	NM_015205	NP_056020	P98196	AT11A_HUMAN			24	2879	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	931			Helical; (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.2791C>T	CCDS32011.1																																																																																				PASS	0.537	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		8	39	8	39	---	---	---	---
F10	2159	broad.mit.edu	37	13	113777207	113777207	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:113777207C>T	ENST00000375559.3	+	1	76	c.38C>T	c.(37-39)tCc>tTc	p.S13F	F10_ENST00000483537.1_3'UTR|F10_ENST00000409306.1_Missense_Mutation_p.S13F|F10_ENST00000375551.3_Missense_Mutation_p.S13F	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	13					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.S13F(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTCAGTGCCTCCCTGGCTGGC	0.662																																						uc001vsx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(37-39)TCC>TTC		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						77.0	54.0	61.0					13																	113777207		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113777207C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.38C>T	13.37:g.113777207C>T	ENSP00000364709:p.Ser13Phe					F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.S13F|F10_uc001vsz.2_Missense_Mutation_p.S13F	p.S13F	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		1	95	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	13					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.38C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.638757	0.00112	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95788	-3.78;-3.81;-2.96	3.91	1.07	0.20283	.	1.476590	0.04171	N	0.324744	D	0.90511	0.7027	N	0.17474	0.49	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.79926	-0.1597	10	0.40728	T	0.16	.	8.8208	0.35025	0.0:0.6899:0.0:0.3101	.	13;13;13	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	F	13	ENSP00000387092:S13F;ENSP00000364701:S13F;ENSP00000364709:S13F	ENSP00000364701:S13F	S	+	2	0	F10	112825208	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.100000	0.10990	0.059000	0.16252	-1.595000	0.00837	TCC		PASS	0.662	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			6	15	6	15	---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113832535	113832535	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:113832535G>A	ENST00000337344.4	-	14	1253	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	PCID2_ENST00000375457.2_Missense_Mutation_p.P391S|PCID2_ENST00000375459.1_Missense_Mutation_p.P391S|PCID2_ENST00000375479.2_Missense_Mutation_p.P393S|PCID2_ENST00000375477.1_Missense_Mutation_p.P393S|PCID2_ENST00000246505.5_Missense_Mutation_p.P447S|PCID2_ENST00000493650.1_5'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	393					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.P447S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACAGGGGAGGAAATGGGTTC	0.542																																						uc010tju.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)CCT>TCT		PCI domain containing 2							238.0	178.0	198.0					13																	113832535		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113832535G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.1177C>T	13.37:g.113832535G>A	ENSP00000337405:p.Pro393Ser					PCID2_uc001vtb.2_Missense_Mutation_p.P226S|PCID2_uc010tjv.1_Missense_Mutation_p.P393S|PCID2_uc010tjw.1_Missense_Mutation_p.P393S|PCID2_uc001vte.2_Missense_Mutation_p.P286S|PCID2_uc001vtd.2_Missense_Mutation_p.P286S|PCID2_uc001vtf.2_Missense_Mutation_p.P286S	p.P393S	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		14	1258	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	393					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.1177C>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174132	0.57692	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.35	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87557	0.2469	9	0.87932	D	0	-21.8302	12.0891	0.53715	0.0792:0.0:0.9208:0.0	.	447;393	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	S	393;393;393;447;391;391;370;393;370	.	ENSP00000246505:P447S	P	-	1	0	PCID2	112880536	1.000000	0.71417	0.052000	0.19188	0.143000	0.21401	9.567000	0.98161	1.261000	0.44149	0.655000	0.94253	CCT		PASS	0.542	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		10	46	10	46	---	---	---	---
DCUN1D2	55208	broad.mit.edu	37	13	114138238	114138238	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:114138238T>C	ENST00000478244.1	-	2	419	c.137A>G	c.(136-138)cAa>cGa	p.Q46R	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.Q46R|DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	46								p.Q46R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GTCTGGGTTTTGGAAGAAGCT	0.557																																						uc001vtr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CAA>CGA		DCN1, defective in cullin neddylation 1, domain							198.0	171.0	180.0					13																	114138238		2203	4300	6503	SO:0001583	missense	55208							g.chr13:114138238T>C	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.137A>G	13.37:g.114138238T>C	ENSP00000417706:p.Gln46Arg					DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron	p.Q46R	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		2	176	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	46					Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Missense_Mutation	SNP	ENST00000478244.1	37	c.137A>G	CCDS32013.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538098	0.45176	.	.	ENSG00000150401	ENST00000478244;ENST00000375399;ENST00000465938;ENST00000439909	.	.	.	4.64	2.2	0.27929	UBA-like (1);	0.123994	0.56097	N	0.000029	T	0.51466	0.1676	L	0.55017	1.72	0.52501	D	0.999955	B	0.09022	0.002	B	0.08055	0.003	T	0.36040	-0.9764	9	0.23891	T	0.37	.	8.6968	0.34301	0.0:0.1564:0.0:0.8436	.	46	Q6PH85	DCNL2_HUMAN	R	46;46;31;31	.	ENSP00000364548:Q46R	Q	-	2	0	DCUN1D2	113186239	1.000000	0.71417	0.129000	0.21949	0.849000	0.48306	3.702000	0.54800	0.191000	0.20236	0.533000	0.62120	CAA		PASS	0.557	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		33	79	33	79	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114817534	114817534	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr13:114817534G>A	ENST00000334062.7	-	3	391	c.270C>T	c.(268-270)tcC>tcT	p.S90S	RASA3_ENST00000542651.1_Silent_p.S90S|RASA3_ENST00000389544.4_Silent_p.S58S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	90	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.S90S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TACCTATGATGGAATCCCTCC	0.473																																						uc001vui.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|skin(1)	4						c.(268-270)TCC>TCT		RAS p21 protein activator 3							94.0	89.0	91.0					13																	114817534		2203	4300	6503	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114817534G>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.270C>T	13.37:g.114817534G>A						RASA3_uc010tkk.1_Silent_p.S58S|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA	p.S90S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		3	401	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	90			C2 1.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.270C>T	CCDS32016.1																																																																																				PASS	0.473	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		7	28	7	28	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216115	20216115	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20216115A>T	ENST00000331723.1	+	1	529	c.529A>T	c.(529-531)Aac>Tac	p.N177Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N177Y(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAACTGGACAACTTCTACTG	0.507																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(529-531)AAC>TAC		olfactory receptor, family 4, subfamily Q,							158.0	138.0	145.0					14																	20216115		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216115A>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.529A>T	14.37:g.20216115A>T	ENSP00000330049:p.Asn177Tyr						p.N177Y	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	529	+	all_cancers(95;0.00108)		177			Extracellular (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.529A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.801457	0.50315	.	.	ENSG00000182652	ENST00000331723	T	0.00115	8.71	3.88	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	U	0.000588	T	0.00210	0.0006	L	0.33137	0.985	0.29542	N	0.851986	D	0.55800	0.973	P	0.60117	0.869	T	0.55283	-0.8165	10	0.72032	D	0.01	.	8.6211	0.33861	0.8078:0.1922:0.0:0.0	.	177	Q8NH05	OR4Q3_HUMAN	Y	177	ENSP00000330049:N177Y	ENSP00000330049:N177Y	N	+	1	0	OR4Q3	19285955	0.065000	0.20965	1.000000	0.80357	0.867000	0.49689	1.415000	0.34748	1.620000	0.50308	0.333000	0.21579	AAC		PASS	0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			8	56	8	56	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389490	20389490	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20389490C>T	ENST00000315915.4	+	1	750	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACGCTGGCTTCCCATATTGCA	0.403																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(724-726)TCC>TTC		olfactory receptor, family 4, subfamily K,							251.0	265.0	260.0					14																	20389490		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389490C>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.725C>T	14.37:g.20389490C>T	ENSP00000319511:p.Ser242Phe						p.S242F	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	725	+	all_cancers(95;0.00108)		242			Helical; Name=6; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.725C>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	9.032	0.987525	0.18966	.	.	ENSG00000176281	ENST00000315915	T	0.39056	1.1	4.52	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.128103	0.34700	N	0.003758	T	0.57330	0.2046	M	0.87547	2.89	0.20563	N	0.999889	B	0.30361	0.277	B	0.42495	0.389	T	0.58255	-0.7668	10	0.87932	D	0	.	12.2106	0.54377	0.0:0.8262:0.1738:0.0	.	242	Q8NGD3	OR4K5_HUMAN	F	242	ENSP00000319511:S242F	ENSP00000319511:S242F	S	+	2	0	OR4K5	19459330	0.532000	0.26346	0.035000	0.18076	0.034000	0.12701	3.410000	0.52664	1.089000	0.41292	-0.175000	0.13238	TCC		PASS	0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		23	139	23	139	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483071	20483071	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20483071G>A	ENST00000305045.2	-	1	281	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S94S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATCCTCCAAAGGAGATGAGTT	0.483																																						uc010tky.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(280-282)TCC>TCT		olfactory receptor, family 4, subfamily K,							101.0	94.0	96.0					14																	20483071		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483071G>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.282C>T	14.37:g.20483071G>A							p.S94S	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	282	-	all_cancers(95;0.00108)		94			Extracellular (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.282C>T	CCDS32027.1																																																																																				PASS	0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			34	34	34	34	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612188	20612188	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20612188C>T	ENST00000333629.1	+	1	294	c.294C>T	c.(292-294)atC>atT	p.I98I	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I98I(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAAGCTGCATCACTCAGCTCT	0.493																																						uc010tla.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(292-294)ATC>ATT		olfactory receptor, family 4, subfamily N,							128.0	130.0	130.0					14																	20612188		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612188C>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.294C>T	14.37:g.20612188C>T							p.I98I	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	294	+	all_cancers(95;0.00108)		98			Extracellular (Potential).		Q6IF11	Silent	SNP	ENST00000333629.1	37	c.294C>T	CCDS32031.1																																																																																				PASS	0.493	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			12	93	12	93	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20864797	20864797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20864797G>A	ENST00000262715.5	-	10	1682	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.Q440*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	548	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.Q548*(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGAGTCTCTGGAGAATGAGC	0.572																																						uc001vxe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)	5						c.(1642-1644)CAG>TAG		telomerase-associated protein 1							92.0	79.0	83.0					14																	20864797		2203	4300	6503	SO:0001587	stop_gained	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20864797G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1642C>T	14.37:g.20864797G>A	ENSP00000262715:p.Gln548*					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.Q440*	p.Q548*	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	10	1682	-	all_cancers(95;0.00123)	all_lung(585;0.235)	548			TROVE.		A0AUV9	Nonsense_Mutation	SNP	ENST00000262715.5	37	c.1642C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	37	6.047431	0.97236	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.59	4.65	0.58169	.	0.280184	0.36234	N	0.002709	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0307	6.3924	0.21593	0.0862:0.0:0.6388:0.275	.	.	.	.	X	548;548;440	.	ENSP00000262715:Q548X	Q	-	1	0	TEP1	19934637	0.996000	0.38824	0.999000	0.59377	0.628000	0.37860	3.025000	0.49681	2.645000	0.89757	0.655000	0.94253	CAG		PASS	0.572	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	27	4	27	---	---	---	---
OSGEP	55644	broad.mit.edu	37	14	20916906	20916906	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:20916906G>A	ENST00000206542.4	-	6	1043	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	OSGEP_ENST00000555656.1_Silent_p.L9L|OSGEP_ENST00000554249.1_Silent_p.L26L|RP11-203M5.7_ENST00000555435.1_RNA	NM_017807.3	NP_060277.1			O-sialoglycoprotein endopeptidase									p.L208L(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATGAAAGACAGGATCCCTGAG	0.438																																						uc001vxf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)CTG>TTG		O-sialoglycoprotein endopeptidase							146.0	114.0	125.0					14																	20916906		2203	4300	6503	SO:0001819	synonymous_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20916906G>A	AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	3.4.24.57		18028	protein-coding gene	gene with protein product		610107				12039036	Standard	NM_017807		Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000206542.4:c.622C>T	14.37:g.20916906G>A							p.L208L	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	6	978	-	all_cancers(95;0.00123)	all_lung(585;0.235)	208						Silent	SNP	ENST00000206542.4	37	c.622C>T	CCDS9549.1																																																																																				PASS	0.438	OSGEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073635.3	NM_017807		7	33	7	33	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109437	21109437	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:21109437C>T	ENST00000320704.3	-	1	413	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M138I(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CAGCCCCACTCATGAGCAAGG	0.587																																						uc001vxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(412-414)ATG>ATA		olfactory receptor, family 6, subfamily S,							94.0	72.0	80.0					14																	21109437		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109437C>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.414G>A	14.37:g.21109437C>T	ENSP00000313110:p.Met138Ile						p.M138I	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	414	-	all_cancers(95;0.00304)		138			Cytoplasmic (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.414G>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962592	0.53400	.	.	ENSG00000181803	ENST00000320704	T	0.01185	5.21	5.76	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.02767	0.0083	M	0.81341	2.54	0.29876	N	0.826467	B	0.34015	0.435	B	0.35727	0.209	T	0.01290	-1.1394	10	0.62326	D	0.03	-31.9422	12.3815	0.55309	0.0:0.7162:0.2838:0.0	.	138	Q8NH40	OR6S1_HUMAN	I	138	ENSP00000313110:M138I	ENSP00000313110:M138I	M	-	3	0	OR6S1	20179277	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	2.473000	0.45145	2.716000	0.92895	0.655000	0.94253	ATG		PASS	0.587	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			15	16	15	16	---	---	---	---
RNASE13	440163	broad.mit.edu	37	14	21502423	21502423	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:21502423G>A	ENST00000382951.3	-	2	162	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	9						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L9F(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TGGAGGAAAAGGAGCCGGGTC	0.552																																						uc001vzj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(25-27)CTT>TTT		ribonuclease, RNase A family, 13 precursor							51.0	47.0	49.0					14																	21502423		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502423G>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.25C>T	14.37:g.21502423G>A	ENSP00000372410:p.Leu9Phe					NDRG2_uc010tll.1_Intron	p.L9F	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	163	-	all_cancers(95;0.000759)		9						Missense_Mutation	SNP	ENST00000382951.3	37	c.25C>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337350	0.41398	.	.	ENSG00000206150	ENST00000382951	D	0.93906	-3.31	5.06	4.16	0.48862	.	0.278577	0.25851	N	0.027884	D	0.92410	0.7591	L	0.32530	0.975	0.09310	N	1	D	0.58268	0.982	P	0.55785	0.784	D	0.86561	0.1841	10	0.87932	D	0	.	11.901	0.52685	0.0:0.1758:0.8242:0.0	.	9	Q5GAN3	RNS13_HUMAN	F	9	ENSP00000372410:L9F	ENSP00000372410:L9F	L	-	1	0	RNASE13	20572263	0.019000	0.18553	0.391000	0.26233	0.189000	0.23516	0.322000	0.19576	1.248000	0.43934	0.609000	0.83330	CTT		PASS	0.552	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			14	24	14	24	---	---	---	---
OR5AU1	390445	broad.mit.edu	37	14	21623338	21623338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:21623338G>A	ENST00000304418.3	-	1	884	c.847C>T	c.(847-849)Cag>Tag	p.Q283*		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q283*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AACCTGCCCTGGGCCGAGCTC	0.493																																						uc010tlp.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(847-849)CAG>TAG		olfactory receptor, family 5, subfamily AU,							145.0	117.0	127.0					14																	21623338		2203	4300	6503	SO:0001587	stop_gained	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623338G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.847C>T	14.37:g.21623338G>A	ENSP00000302057:p.Gln283*						p.Q283*	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	847	-	all_cancers(95;0.00238)		283			Cytoplasmic (Potential).		B2RP78|Q6IEU2|Q96R10	Nonsense_Mutation	SNP	ENST00000304418.3	37	c.847C>T	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515992	0.64634	.	.	ENSG00000169327	ENST00000304418	.	.	.	4.24	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.469	0.21997	0.0:0.2116:0.5982:0.1903	.	.	.	.	X	283	.	ENSP00000302057:Q283X	Q	-	1	0	OR5AU1	20693178	0.000000	0.05858	0.992000	0.48379	0.701000	0.40568	0.557000	0.23454	2.205000	0.71048	0.491000	0.48974	CAG		PASS	0.493	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			14	10	14	10	---	---	---	---
SUPT16H	11198	broad.mit.edu	37	14	21831642	21831642	+	Silent	SNP	G	G	A	rs576020366		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:21831642G>A	ENST00000216297.2	-	11	1592	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	418					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L418L(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCACAGAAGTGAGAACAGTAG	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16085	0.0		0.0	False		,,,				2504	0.0					uc001wao.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1252-1254)CTC>CTT		chromatin-specific transcription elongation							50.0	52.0	51.0					14																	21831642		2203	4299	6502	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21831642G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1254C>T	14.37:g.21831642G>A							p.L418L	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	11	1593	-	all_cancers(95;0.00115)		418					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.1254C>T	CCDS9569.1																																																																																				PASS	0.353	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			11	22	11	22	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21881137	21881137	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:21881137G>A	ENST00000557364.1	-	10	2424	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	CHD8_ENST00000430710.3_Missense_Mutation_p.P442S|CHD8_ENST00000399982.2_Missense_Mutation_p.P721S|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	721					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.P721S(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)		ACGTAGTCTGGATTAAAGGGC	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.(1324-1326)CCA>TCA		chromodomain helicase DNA binding protein 8							125.0	115.0	118.0					14																	21881137		1912	4122	6034	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.chr14:21881137G>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.2161C>T	14.37:g.21881137G>A	ENSP00000451601:p.Pro721Ser					CHD8_uc001war.1_Missense_Mutation_p.P338S|CHD8_uc001wav.1_5'Flank	p.P442S	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	10	1418	-	all_cancers(95;0.00121)		721					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1324C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480398	0.84747	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.72282	-0.64;-0.64;-0.64	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	M	0.74647	2.275	0.80722	D	1	D	0.54964	0.969	P	0.57846	0.828	T	0.82936	-0.0210	10	0.54805	T	0.06	-10.5187	17.2078	0.86922	0.0:0.0:1.0:0.0	.	442	Q9HCK8-2	.	S	442;721;441;721	ENSP00000406288:P442S;ENSP00000382863:P721S;ENSP00000451601:P721S	ENSP00000262707:P441S	P	-	1	0	CHD8	20950977	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.657000	0.98554	2.594000	0.87642	0.561000	0.74099	CCA		PASS	0.448	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	10	13	10	---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23235850	23235850	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:23235850C>T	ENST00000285848.5	+	1	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000604262.1_5'Flank|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA|CTD-2555K7.2_ENST00000554857.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.F40F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AAAAGTGCTTCCTCTCGAGGG	0.547																																						uc001wgn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(118-120)TTC>TTT		oxidase (cytochrome c) assembly 1-like							108.0	119.0	115.0					14																	23235850		2203	4300	6503	SO:0001819	synonymous_variant	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235850C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.120C>T	14.37:g.23235850C>T						OXA1L_uc010tnc.1_Silent_p.F40F|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.F40F|OXA1L_uc001wgp.2_5'Flank|OXA1L_uc001wgq.2_5'Flank	p.F40F	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	120	+	all_cancers(95;8.44e-05)		Error:Variant_position_missing_in_Q15070_after_alignment					B4DPA2	Silent	SNP	ENST00000285848.5	37	c.120C>T	CCDS9573.1																																																																																				PASS	0.547	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		13	85	13	85	---	---	---	---
PSMB5	5693	broad.mit.edu	37	14	23502794	23502794	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:23502794G>A	ENST00000361611.6	-	2	551	c.288C>T	c.(286-288)atC>atT	p.I96I	PSMB5_ENST00000493471.2_Silent_p.I96I|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000425762.2_5'UTR|PSMB5_ENST00000460922.2_Intron	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.I96I(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GGTATGGGTTGATCTCTATCA	0.542																																						uc001wii.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(286-288)ATC>ATT		proteasome beta 5 subunit isoform 1	Bortezomib(DB00188)						66.0	65.0	66.0					14																	23502794		2203	4300	6503	SO:0001819	synonymous_variant	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23502794G>A	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.288C>T	14.37:g.23502794G>A						PSMB5_uc001wij.2_Silent_p.I96I|PSMB5_uc010tni.1_5'UTR	p.I96I	NM_002797	NP_002788	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	2	552	-	all_cancers(95;3.3e-05)		96					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Silent	SNP	ENST00000361611.6	37	c.288C>T	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081417	0.55753	.	.	ENSG00000100804	ENST00000555895	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.61476	0.2350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59778	-0.7390	4	.	.	.	-18.9368	10.4769	0.44670	0.091:0.0:0.909:0.0	.	.	.	.	L	45	.	.	S	-	2	0	PSMB5	22572634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.547000	0.53663	2.237000	0.73441	0.561000	0.74099	TCA		PASS	0.542	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		4	23	4	23	---	---	---	---
CMTM5	116173	broad.mit.edu	37	14	23847659	23847659	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:23847659C>T	ENST00000339180.4	+	2	444	c.228C>T	c.(226-228)ctC>ctT	p.L76L	CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000382809.2_Silent_p.L76L|CMTM5_ENST00000359320.3_Silent_p.L76L|CMTM5_ENST00000342473.4_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.L76L(2)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TCCTCTTCCTCTATGCCACCC	0.577																																						uc010akm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(226-228)CTC>CTT		chemokine-like factor superfamily 5 isoform a							245.0	207.0	220.0					14																	23847659		2203	4300	6503	SO:0001819	synonymous_variant	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847659C>T	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.228C>T	14.37:g.23847659C>T						CMTM5_uc001wjs.2_Silent_p.L76L|CMTM5_uc001wjt.2_Silent_p.L76L|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	p.L76L	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	2	672	+	all_cancers(95;2e-05)		76			Helical; (Potential).|MARVEL.		E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37	c.228C>T																																																																																					PASS	0.577	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			43	55	43	55	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23863333	23863333	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:23863333C>T	ENST00000356287.3	-	20	2658	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	MYH6_ENST00000405093.3_Missense_Mutation_p.E877K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	877					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E877K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCATCTTCTCCTCCAGCTCC	0.602																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(2629-2631)GAG>AAG		myosin heavy chain 6							105.0	86.0	92.0					14																	23863333		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23863333C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2629G>A	14.37:g.23863333C>T	ENSP00000348634:p.Glu877Lys						p.E877K	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	21	2696	-	all_cancers(95;2.54e-05)		877			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2629G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	31	5.097084	0.94197	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84070	-1.8;-1.8	4.57	4.57	0.56435	.	.	.	.	.	D	0.90109	0.6910	M	0.65677	2.01	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.91381	0.5127	9	0.72032	D	0.01	.	17.7489	0.88428	0.0:1.0:0.0:0.0	.	877	P13533	MYH6_HUMAN	K	877	ENSP00000386041:E877K;ENSP00000348634:E877K	ENSP00000348634:E877K	E	-	1	0	MYH6	22933173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.274000	0.75844	0.555000	0.69702	GAG		PASS	0.602	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			8	52	8	52	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23869531	23869531	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:23869531C>T	ENST00000356287.3	-	13	1544	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	MYH6_ENST00000405093.3_Silent_p.E505E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	505	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E505E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCAATGCCCTCCTTCTTGT	0.542																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1513-1515)GAG>GAA		myosin heavy chain 6							269.0	193.0	219.0					14																	23869531		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869531C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1515G>A	14.37:g.23869531C>T						MYH6_uc010akp.1_Silent_p.E505E	p.E505E	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	14	1582	-	all_cancers(95;2.54e-05)		505			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1515G>A	CCDS9600.1																																																																																				PASS	0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			46	26	46	26	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24528918	24528918	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:24528918G>A	ENST00000342740.5	+	22	1999	c.1845G>A	c.(1843-1845)ctG>ctA	p.L615L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	615						cytoplasm (GO:0005737)		p.L615L(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGGGCTTCCTGGACATCGCAA	0.592																																						uc001wlj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1843-1845)CTG>CTA		leucine rich repeat containing 16B							89.0	78.0	82.0					14																	24528918		2203	4300	6503	SO:0001819	synonymous_variant	90668							g.chr14:24528918G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1845G>A	14.37:g.24528918G>A						LRRC16B_uc001wlk.2_5'Flank	p.L615L	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	22	2002	+			615					Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	c.1845G>A	CCDS32054.1																																																																																				PASS	0.592	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		16	13	16	13	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24878047	24878047	+	Silent	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:24878047C>G	ENST00000382554.3	+	4	1365	c.1047C>G	c.(1045-1047)gcC>gcG	p.A349A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	349					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.A349A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGGAAGGCCTGGACCCCGG	0.572																																						uc001wpf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1045-1047)GCC>GCG		hypothetical protein LOC57523							33.0	36.0	35.0					14																	24878047		1910	4126	6036	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878047C>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1047C>G	14.37:g.24878047C>G							p.A349A	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			4	1365	+			349					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.1047C>G	CCDS45090.1																																																																																				PASS	0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	21	4	21	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24884157	24884157	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:24884157C>T	ENST00000382554.3	+	9	3520	c.3202C>T	c.(3202-3204)Ccc>Tcc	p.P1068S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1068					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P1068S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGGGCATCCCCTGGGATGG	0.627																																						uc001wpf.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3202-3204)CCC>TCC		hypothetical protein LOC57523							71.0	81.0	78.0					14																	24884157		2047	4187	6234	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884157C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3202C>T	14.37:g.24884157C>T	ENSP00000371994:p.Pro1068Ser						p.P1068S	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	3520	+			1068					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3202C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019179	0.75275	.	.	ENSG00000205978	ENST00000382554	T	0.40476	1.03	4.45	4.45	0.53987	.	.	.	.	.	T	0.56485	0.1988	L	0.56769	1.78	0.30747	N	0.745521	D	0.89917	1.0	D	0.79108	0.992	T	0.51949	-0.8640	9	0.17832	T	0.49	.	12.4491	0.55667	0.0:1.0:0.0:0.0	.	1068	Q9P2P1	NYNRI_HUMAN	S	1068	ENSP00000371994:P1068S	ENSP00000371994:P1068S	P	+	1	0	NYNRIN	23953997	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	3.347000	0.52200	2.296000	0.77279	0.561000	0.74099	CCC		PASS	0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			27	21	27	21	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24901146	24901146	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:24901146C>T	ENST00000251343.5	+	3	818	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	KHNYN_ENST00000556842.1_Missense_Mutation_p.P227S|KHNYN_ENST00000553935.1_Missense_Mutation_p.P227S|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000555436.1_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	227							RNA binding (GO:0003723)	p.P227S(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGTGAGAGCTCCCCCTAGTGA	0.642											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)	3						c.(679-681)CCC>TCC		hypothetical protein LOC23351							62.0	64.0	63.0					14																	24901146		2203	4300	6503	SO:0001583	missense	23351							g.chr14:24901146C>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.679C>T	14.37:g.24901146C>T	ENSP00000251343:p.Pro227Ser		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.P268S|KHNYN_uc010alw.2_Missense_Mutation_p.P227S|CBLN3_uc001wpg.3_5'Flank	p.P227S	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	881	+			227					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.679C>T	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	C	1.287	-0.608592	0.03717	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.22336	1.96;1.96;1.96	4.65	1.52	0.23074	.	2.705910	0.01573	N	0.020690	T	0.15912	0.0383	L	0.27053	0.805	0.19300	N	0.999979	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26395	-1.0104	10	0.59425	D	0.04	.	2.8826	0.05652	0.1856:0.5323:0.1802:0.102	.	268;227	D3DS77;O15037	.;KHNYN_HUMAN	S	227	ENSP00000251343:P227S;ENSP00000451106:P227S;ENSP00000450799:P227S	ENSP00000251343:P227S	P	+	1	0	KHNYN	23970986	0.000000	0.05858	0.021000	0.16686	0.005000	0.04900	-0.176000	0.09811	0.486000	0.27676	-0.253000	0.11424	CCC		PASS	0.642	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			8	40	8	40	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043013	25043013	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:25043013C>T	ENST00000216336.2	-	5	634	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.D200N(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCTCCGGAATCCCCCTGTAGG	0.622																																						uc001wpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(598-600)GAT>AAT		cathepsin G preproprotein							57.0	64.0	62.0					14																	25043013		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043013C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.598G>A	14.37:g.25043013C>T	ENSP00000216336:p.Asp200Asn						p.D200N	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	635	-			200			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.598G>A	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423202	0.43020	.	.	ENSG00000100448	ENST00000216336	D	0.94457	-3.43	4.63	3.73	0.42828	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001242	D	0.97639	0.9226	H	0.94620	3.56	0.34900	D	0.746437	D	0.55605	0.972	D	0.72625	0.978	D	0.99951	1.1553	10	0.87932	D	0	.	10.6804	0.45811	0.1922:0.8078:0.0:0.0	.	200	P08311	CATG_HUMAN	N	200	ENSP00000216336:D200N	ENSP00000216336:D200N	D	-	1	0	CTSG	24112853	0.988000	0.35896	0.064000	0.19789	0.036000	0.12997	3.364000	0.52328	1.242000	0.43836	0.549000	0.68633	GAT		PASS	0.622	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		8	47	8	47	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25043646	25043646	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:25043646C>T	ENST00000216336.2	-	4	435	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q133Q(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCAGTCCCTCCTGGGCTCTAG	0.622																																						uc001wpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(397-399)CAG>CAA		cathepsin G preproprotein							107.0	104.0	105.0					14																	25043646		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043646C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.399G>A	14.37:g.25043646C>T							p.Q133Q	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	436	-			133			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.399G>A	CCDS9631.1																																																																																				PASS	0.622	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		7	57	7	57	---	---	---	---
GZMB	3002	broad.mit.edu	37	14	25102253	25102253	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:25102253C>T	ENST00000216341.4	-	2	177	c.71G>A	c.(70-72)gGa>gAa	p.G24E	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.G58E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.G24E|GZMB_ENST00000415355.3_Missense_Mutation_p.G12E|GZMB_ENST00000382540.1_Missense_Mutation_p.G24E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	24	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G58E(1)|p.G24E(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGCCTCATGTCCCCCGATGAT	0.567																																						uc001wps.2																			2	Substitution - Missense(2)		lung(2)		0						c.(70-72)GGA>GAA		granzyme B precursor							114.0	114.0	114.0					14																	25102253		2203	4300	6503	SO:0001583	missense	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25102253C>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.71G>A	14.37:g.25102253C>T	ENSP00000216341:p.Gly24Glu					GZMB_uc010ama.2_Missense_Mutation_p.G12E|GZMB_uc010amb.2_RNA	p.G24E	NM_004131	NP_004122	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	2	137	-			24			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.71G>A	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003748	0.54254	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000526004	T;D;D;T;D	0.96716	-0.88;-4.1;-4.1;0.64;-2.44	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.33895	N	0.004452	D	0.98541	0.9513	H	0.94582	3.555	0.40065	D	0.975946	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99525	1.0959	10	0.87932	D	0	.	14.0772	0.64897	0.0:1.0:0.0:0.0	.	12;24	Q6XGZ4;P10144	.;GRAB_HUMAN	E	12;24;58;24;24	ENSP00000387385:G12E;ENSP00000216341:G24E;ENSP00000371982:G58E;ENSP00000371980:G24E;ENSP00000434213:G24E	ENSP00000216341:G24E	G	-	2	0	GZMB	24172093	0.994000	0.37717	1.000000	0.80357	0.201000	0.24016	4.627000	0.61276	2.785000	0.95823	0.655000	0.94253	GGA		PASS	0.567	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		13	64	13	64	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30103746	30103746	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:30103746G>A	ENST00000331968.5	-	8	1421	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	PRKD1_ENST00000415220.2_Splice_Site_p.P406S|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	398					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.P398S(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTGTTGATGGACTTGAGAAG	0.378																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1192-1194)CCA>TCA		protein kinase D1							310.0	251.0	271.0					14																	30103746		2203	4300	6503	SO:0001630	splice_region_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30103746G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1191-1C>T	14.37:g.30103746G>A							p.P398S	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	8	1373	-	Hepatocellular(127;0.0604)		398					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1192C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612350	0.46631	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.63744	-0.05;-0.06	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	L	0.36672	1.1	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.48948	-0.8989	10	0.15066	T	0.55	-11.1865	20.5407	0.99260	0.0:0.0:1.0:0.0	.	398	Q15139	KPCD1_HUMAN	S	398;406	ENSP00000333568:P398S;ENSP00000390535:P406S	ENSP00000333568:P398S	P	-	1	0	PRKD1	29173497	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.894000	0.87336	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.378	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	Missense_Mutation	48	43	48	43	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30194832	30194832	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:30194832G>A	ENST00000331968.5	-	2	542	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	PRKD1_ENST00000415220.2_Missense_Mutation_p.R105C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	105					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R105C(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGGTCATGGCGAAAAAGCAGG	0.413																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(313-315)CGC>TGC		protein kinase D1							122.0	110.0	114.0					14																	30194832		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30194832G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.313C>T	14.37:g.30194832G>A	ENSP00000333568:p.Arg105Cys						p.R105C	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	2	494	-	Hepatocellular(127;0.0604)		105					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.313C>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243730	0.79912	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	T;T;D	0.94376	-0.46;-0.46;-3.41	5.69	5.69	0.88448	.	0.073432	0.64402	D	0.000016	D	0.96516	0.8863	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.96595	0.9440	10	0.87932	D	0	-11.4107	19.8025	0.96515	0.0:0.0:1.0:0.0	.	105	Q15139	KPCD1_HUMAN	C	105;105;28	ENSP00000333568:R105C;ENSP00000390535:R105C;ENSP00000446866:R28C	ENSP00000333568:R105C	R	-	1	0	PRKD1	29264583	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.541000	0.67212	2.687000	0.91594	0.561000	0.74099	CGC		PASS	0.413	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		5	52	5	52	---	---	---	---
COCH	1690	broad.mit.edu	37	14	31354713	31354713	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:31354713G>A	ENST00000396618.3	+	10	903	c.847G>A	c.(847-849)Gag>Aag	p.E283K	RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.E283K|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.E283K|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.E171K|COCH_ENST00000382493.4_Missense_Mutation_p.E134K	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	283	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E283K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGATGACATCGAGGAAGCAGG	0.468																																						uc001wqr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(847-849)GAG>AAG		cochlin precursor							200.0	176.0	184.0					14																	31354713		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31354713G>A		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.847G>A	14.37:g.31354713G>A	ENSP00000379862:p.Glu283Lys					COCH_uc001wqp.2_Missense_Mutation_p.E283K|COCH_uc001wqq.3_Missense_Mutation_p.E283K|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.E134K	p.E283K	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	10	927	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		283			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.847G>A	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385013	0.82792	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87481	0.6188	L	0.33485	1.01	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.965;0.995;0.995	D	0.87862	0.2665	10	0.54805	T	0.06	-17.1521	19.473	0.94971	0.0:0.0:1.0:0.0	.	134;283;283	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	K	283;283;283;165;171;171;134	ENSP00000216361:E283K;ENSP00000379862:E283K;ENSP00000451528:E283K;ENSP00000452569:E165K;ENSP00000451713:E171K;ENSP00000371933:E134K	ENSP00000216361:E283K	E	+	1	0	COCH	30424464	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.354000	0.97083	2.591000	0.87537	0.650000	0.86243	GAG		PASS	0.468	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		33	36	33	36	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31604320	31604320	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:31604320G>A	ENST00000399332.1	-	22	3824	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G	HECTD1_ENST00000553700.1_Silent_p.G1112G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1112					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.G1112G(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTCTAAGCGGCCATAAGGTA	0.383																																						uc001wrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(3334-3336)GGC>GGT		HECT domain containing 1							133.0	116.0	121.0					14																	31604320		1876	4121	5997	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31604320G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3336C>T	14.37:g.31604320G>A						HECTD1_uc001wrd.1_Silent_p.G627G	p.G1112G	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	22	3825	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1112					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.3336C>T	CCDS41939.1																																																																																				PASS	0.383	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			30	29	30	29	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35228004	35228005	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:35228004_35228005CC>TT	ENST00000382422.2	-	24	4618_4619	c.4291_4292GG>AA	c.(4291-4293)GGa>AAa	p.G1431K	BAZ1A_ENST00000358716.4_Missense_Mutation_p.G1399K|BAZ1A_ENST00000360310.1_Missense_Mutation_p.G1431K			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1431					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.G1431E(1)|p.G1431R(1)|p.G1431K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCATGAACTCCTCCCTGTCGG	0.396																																						uc001wsk.2																			3	Substitution - Missense(3)		lung(3)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4291-4293)GGA>GAA|c.(4291-4293)GGA>AGA		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35228004C>T|g.chr14:35228005C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4291_4292delinsTT	14.37:g.35228004_35228005delinsTT	ENSP00000371859:p.Gly1431Lys					BAZ1A_uc001wsl.2_Missense_Mutation_p.G1399E|BAZ1A_uc001wsl.2_Missense_Mutation_p.G1399R	p.G1431E|p.G1431R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	25	4860|4859	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1431					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4292G>A|c.4291G>A	CCDS9651.1																																																																																				PASS	0.396	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			8|7	50	7	50	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592857	35592857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:35592857G>T	ENST00000557565.1	+	2	787	c.406G>T	c.(406-408)Gga>Tga	p.G136*	PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000321130.10_Nonsense_Mutation_p.G136*|KIAA0391_ENST00000250377.7_Nonsense_Mutation_p.G41*|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Nonsense_Mutation_p.G136*|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Nonsense_Mutation_p.G136*|KIAA0391_ENST00000604948.1_Nonsense_Mutation_p.G41*	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	136					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.G136*(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGAAAACACCGGAAAGACCAG	0.433																																						uc001wsy.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(406-408)GGA>TGA		mitochondrial RNase P protein 3 precursor							82.0	85.0	84.0					14																	35592857		2203	4300	6503	SO:0001587	stop_gained	9692				tRNA processing	mitochondrion		g.chr14:35592857G>T	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.406G>T	14.37:g.35592857G>T	ENSP00000454657:p.Gly136*					KIAA0391_uc010tps.1_Nonsense_Mutation_p.G41*|KIAA0391_uc001wsz.1_Nonsense_Mutation_p.G136*|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Nonsense_Mutation_p.G136*|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	p.G136*	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	766	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		136					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Nonsense_Mutation	SNP	ENST00000557565.1	37	c.406G>T	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851286	0.32699	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	.	.	.	0.0465	-0.093	0.13652	.	0.841152	0.10709	N	0.643108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.6521	.	.	.	.	.	.	.	X	41;41;136;136;136	.	ENSP00000250377:G41X	G	+	1	0	KIAA0391	34662608	0.001000	0.12720	0.948000	0.38648	0.079000	0.17450	-1.183000	0.03079	-1.381000	0.02112	-1.368000	0.01194	GGA		PASS	0.433	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		4	57	4	57	---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36780893	36780893	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:36780893G>A	ENST00000416007.4	-	6	763	c.676C>T	c.(676-678)Cct>Tct	p.P226S	MBIP_ENST00000318473.7_Missense_Mutation_p.P226S|MBIP_ENST00000359527.7_Missense_Mutation_p.P226S|MBIP_ENST00000603913.1_5'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	226	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)	p.P226S(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATTCCTTCAGGTCTAGTCTGT	0.373																																						uc001wtm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CCT>TCT		MAP3K12 binding inhibitory protein 1 isoform 1							107.0	89.0	95.0					14																	36780893		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36780893G>A	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.676C>T	14.37:g.36780893G>A	ENSP00000399718:p.Pro226Ser					MBIP_uc001wto.2_Missense_Mutation_p.P226S|MBIP_uc010tpy.1_Missense_Mutation_p.P85S|MBIP_uc001wtn.2_Missense_Mutation_p.P226S	p.P226S	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	6	764	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		226			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.676C>T	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.892|9.892	1.204499|1.204499	0.22205|0.22205	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977	T;T;T|.	0.37752|.	1.18;1.18;1.18|.	6.17|6.17	-2.17|-2.17	0.07059|0.07059	.|.	0.536654|.	0.20442|.	N|.	0.092273|.	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.11255|0.11255	0.115|0.115	0.26984|0.26984	N|N	0.965284|0.965284	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.06405|.	0.001;0.002;0.001;0.001|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.02654|.	T|.	1|.	-5.0157|-5.0157	0.9492|0.9492	0.01372|0.01372	0.1858:0.22:0.2616:0.3327|0.1858:0.22:0.2616:0.3327	.|.	200;226;226;226|.	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;.;MBIP1_HUMAN|.	S|I	226;226;226;233;186|222	ENSP00000399718:P226S;ENSP00000324444:P226S;ENSP00000352517:P226S|.	ENSP00000324444:P226S|.	P|T	-|-	1|2	0|0	MBIP|MBIP	35850644|35850644	0.987000|0.987000	0.35691|0.35691	0.997000|0.997000	0.53966|0.53966	0.933000|0.933000	0.57130|0.57130	0.078000|0.078000	0.14761|0.14761	-0.049000|-0.049000	0.13379|0.13379	-0.895000|-0.895000	0.02911|0.02911	CCT|ACC		PASS	0.373	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		20	22	20	22	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39709774	39709774	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:39709774G>A	ENST00000280082.3	+	3	458	c.259G>A	c.(259-261)Gag>Aag	p.E87K	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E87K|MIA2_ENST00000556784.1_Missense_Mutation_p.E86K	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	87	SH3.				cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.E87K(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAAAGGAAAGGAGTTTGGATA	0.363																																						uc001wux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(259-261)GAG>AAG		melanoma inhibitory activity 2							104.0	101.0	102.0					14																	39709774		2203	4300	6503	SO:0001583	missense	117153					extracellular region		g.chr14:39709774G>A	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.259G>A	14.37:g.39709774G>A	ENSP00000280082:p.Glu87Lys					MIA2_uc010amy.1_Missense_Mutation_p.E18K	p.E87K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	3	453	+	Hepatocellular(127;0.213)		87			SH3.		A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.259G>A	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935478	0.52866	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.38	4.49	0.54785	Src homology-3 domain (2);Variant SH3 (1);	0.315611	0.23007	N	0.053007	T	0.66509	0.2796	N	0.14661	0.345	0.27001	N	0.96492	B;B	0.33777	0.425;0.372	B;B	0.34418	0.182;0.114	T	0.56986	-0.7888	9	.	.	.	-6.2972	13.7264	0.62761	0.075:0.0:0.925:0.0	.	87;87	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	K	87;87;86;87	ENSP00000451883:E87K;ENSP00000280082:E87K;ENSP00000451934:E86K;ENSP00000452252:E87K	.	E	+	1	0	MIA2;RP11-407N17.3	38779525	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	3.588000	0.53964	1.281000	0.44480	0.650000	0.86243	GAG		PASS	0.363	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		9	34	9	34	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39815168	39815168	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:39815168C>T	ENST00000280083.3	+	21	2206	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F	CTAGE5_ENST00000396158.2_Missense_Mutation_p.S636F|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S556F|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S602F|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S602F|CTAGE5_ENST00000341502.5_Missense_Mutation_p.S631F|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S551F|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S588F|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S619F|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.S1166F|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S602F			O15320	CTGE5_HUMAN	CTAGE family, member 5	631	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.S631F(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGTTCTAATTCTGGTAGACTG	0.328																																						uc001wvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1891-1893)TCT>TTT		CTAGE family, member 5 isoform 1							78.0	77.0	77.0					14																	39815168		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39815168C>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1892C>T	14.37:g.39815168C>T	ENSP00000280083:p.Ser631Phe					CTAGE5_uc010tqe.1_Missense_Mutation_p.S593F|CTAGE5_uc001wuz.3_Missense_Mutation_p.S619F|CTAGE5_uc001wuy.3_Missense_Mutation_p.S551F|CTAGE5_uc001wvb.3_Missense_Mutation_p.S559F|CTAGE5_uc001wvc.3_Missense_Mutation_p.S533F|CTAGE5_uc001wva.3_Missense_Mutation_p.S602F|CTAGE5_uc001wvh.3_Missense_Mutation_p.S588F|CTAGE5_uc001wvf.3_Missense_Mutation_p.S556F|CTAGE5_uc001wvi.3_Missense_Mutation_p.S636F|CTAGE5_uc010amz.2_Missense_Mutation_p.S247F|CTAGE5_uc001wvj.3_Missense_Mutation_p.S602F	p.S631F	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	21	2228	+	Hepatocellular(127;0.213)		631			Pro-rich.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.1892C>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802454	0.50315	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.48201	3.09;2.96;2.96;2.97;3.26;3.26;3.26;2.96;0.82;2.97	4.74	4.74	0.60224	.	0.000000	0.32753	N	0.005690	T	0.45677	0.1354	L	0.55834	1.745	0.31816	N	0.626622	B;B;B;B;B;B	0.29988	0.264;0.009;0.065;0.016;0.162;0.011	B;B;B;B;B;B	0.31245	0.126;0.022;0.055;0.022;0.057;0.022	T	0.52719	-0.8538	9	.	.	.	.	16.7763	0.85551	0.0:1.0:0.0:0.0	.	593;636;588;631;559;619	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	F	1166;619;551;593;602;631;636;631;556;588;602	ENSP00000452252:S1166F;ENSP00000343897:S619F;ENSP00000450869:S551F;ENSP00000379468:S602F;ENSP00000339286:S631F;ENSP00000379462:S636F;ENSP00000280083:S631F;ENSP00000452562:S556F;ENSP00000343912:S588F;ENSP00000450449:S602F	.	S	+	2	0	CTAGE5;RP11-407N17.3	38884919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.821000	0.48065	2.582000	0.87167	0.585000	0.79938	TCT		PASS	0.328	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		33	25	33	25	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39818103	39818103	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:39818103C>T	ENST00000280083.3	+	23	2484	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	CTAGE5_ENST00000396158.2_Missense_Mutation_p.P729S|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P649S|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P695S|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P695S|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P724S|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P644S|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P681S|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P712S|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1259S|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P695S			O15320	CTGE5_HUMAN	CTAGE family, member 5	724	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.P724S(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCCACCTCCTCCAGGAGCCAT	0.488																																						uc001wvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2170-2172)CCA>TCA		CTAGE family, member 5 isoform 1							91.0	98.0	96.0					14																	39818103		2203	4300	6503	SO:0001583	missense	4253						enzyme activator activity|protein binding	g.chr14:39818103C>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2170C>T	14.37:g.39818103C>T	ENSP00000280083:p.Pro724Ser					CTAGE5_uc001wuz.3_Missense_Mutation_p.P712S|CTAGE5_uc001wuy.3_Missense_Mutation_p.P644S|CTAGE5_uc001wvb.3_Missense_Mutation_p.P652S|CTAGE5_uc001wvc.3_Missense_Mutation_p.P626S|CTAGE5_uc001wva.3_Missense_Mutation_p.P695S|CTAGE5_uc001wvh.3_Missense_Mutation_p.P681S|CTAGE5_uc001wvf.3_Missense_Mutation_p.P649S|CTAGE5_uc001wvi.3_Missense_Mutation_p.P729S|CTAGE5_uc010amz.2_Missense_Mutation_p.P340S|CTAGE5_uc001wvj.3_Missense_Mutation_p.P695S	p.P724S	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	23	2506	+	Hepatocellular(127;0.213)		724			Pro-rich.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2170C>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483031	0.44147	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.4	4.51	0.55191	.	0.242308	0.21599	N	0.071969	T	0.75087	0.3802	M	0.83312	2.635	0.35586	D	0.806651	D;P;D;P;D	0.53151	0.958;0.649;0.958;0.947;0.958	P;B;P;P;P	0.50314	0.637;0.359;0.637;0.558;0.637	T	0.82835	-0.0261	9	.	.	.	.	12.2429	0.54553	0.0:0.9199:0.0:0.0801	.	729;681;724;652;712	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	S	1259;712;644;695;724;729;724;649;681;695	ENSP00000452252:P1259S;ENSP00000343897:P712S;ENSP00000450869:P644S;ENSP00000379468:P695S;ENSP00000339286:P724S;ENSP00000379462:P729S;ENSP00000280083:P724S;ENSP00000452562:P649S;ENSP00000343912:P681S;ENSP00000450449:P695S	.	P	+	1	0	CTAGE5;RP11-407N17.3	38887854	1.000000	0.71417	0.997000	0.53966	0.104000	0.19210	4.442000	0.59988	1.273000	0.44346	-0.150000	0.13652	CCA		PASS	0.488	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		30	68	30	68	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975146	44975146	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:44975146C>T	ENST00000340446.4	-	1	1336	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	349	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E349K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCAGAATTTCAGCCAGAAGC	0.512																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1045-1047)GAA>AAA		fibrous sheath CABYR binding protein							73.0	84.0	80.0					14																	44975146		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975146C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1045G>A	14.37:g.44975146C>T	ENSP00000344579:p.Glu349Lys						p.E349K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1354	-			349			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1045G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899225	0.52227	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12569	2.67	4.2	-0.0261	0.13932	.	.	.	.	.	T	0.10337	0.0253	L	0.39020	1.185	0.09310	N	1	B	0.23650	0.089	B	0.22386	0.039	T	0.30297	-0.9983	9	0.48119	T	0.1	0.0191	6.6485	0.22949	0.0:0.3817:0.4376:0.1807	.	349	Q5H9T9	FSCB_HUMAN	K	349	ENSP00000344579:E349K	ENSP00000344579:E349K	E	-	1	0	FSCB	44044896	0.034000	0.19679	0.000000	0.03702	0.066000	0.16364	0.095000	0.15127	-0.116000	0.11893	0.400000	0.26472	GAA		PASS	0.512	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		59	62	59	62	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975992	44975992	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:44975992C>T	ENST00000340446.4	-	1	490	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	67						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E67K(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTAGTCATTTCCTGTCCATGC	0.423																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(199-201)GAA>AAA		fibrous sheath CABYR binding protein							168.0	163.0	164.0					14																	44975992		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975992C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.199G>A	14.37:g.44975992C>T	ENSP00000344579:p.Glu67Lys						p.E67K	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	508	-			67					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.199G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526105	0.44969	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.18657	2.2	5.25	3.43	0.39272	.	.	.	.	.	T	0.16257	0.0391	L	0.38175	1.15	0.21967	N	0.999446	P	0.45715	0.865	B	0.39503	0.301	T	0.08743	-1.0707	9	0.54805	T	0.06	-1.2496	8.1174	0.30950	0.0:0.8148:0.0:0.1852	.	67	Q5H9T9	FSCB_HUMAN	K	67	ENSP00000344579:E67K	ENSP00000344579:E67K	E	-	1	0	FSCB	44045742	0.633000	0.27181	0.147000	0.22382	0.171000	0.22731	0.432000	0.21461	0.735000	0.32537	0.555000	0.69702	GAA		PASS	0.423	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		55	66	55	66	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47324289	47324289	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:47324289C>T	ENST00000399232.2	-	15	2978	c.2614G>A	c.(2614-2616)Ggg>Agg	p.G872R	MDGA2_ENST00000357362.3_Missense_Mutation_p.G643R|MDGA2_ENST00000399222.3_Missense_Mutation_p.G74R|MDGA2_ENST00000439988.3_Missense_Mutation_p.G941R|MDGA2_ENST00000426342.1_Missense_Mutation_p.G643R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	872	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G643R(2)|p.G941R(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCTTTATTCCCACTTGAAGAC	0.308																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2614-2616)GGG>AGG		MAM domain containing 1 isoform 1							135.0	126.0	129.0					14																	47324289		1825	4071	5896	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324289C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2614G>A	14.37:g.47324289C>T	ENSP00000382178:p.Gly872Arg					MDGA2_uc001wwh.3_Missense_Mutation_p.G74R|MDGA2_uc001wwi.3_Missense_Mutation_p.G643R	p.G872R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			15	2810	-			872			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2614G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.956874	0.73902	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04	4.59	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.49916	U	0.000128	T	0.19167	0.0460	M	0.82630	2.6	0.58432	D	0.999999	D	0.64830	0.994	D	0.69142	0.962	T	0.00699	-1.1604	10	0.87932	D	0	.	15.2349	0.73422	0.0:1.0:0.0:0.0	.	872	Q7Z553	MDGA2_HUMAN	R	872;643;941;74;643	ENSP00000400011:G872R;ENSP00000405456:G643R;ENSP00000382178:G941R;ENSP00000382168:G74R;ENSP00000349925:G643R	ENSP00000349925:G643R	G	-	1	0	MDGA2	46394039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.652000	0.67959	2.244000	0.73946	0.557000	0.71058	GGG		PASS	0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	42	6	42	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47504454	47504454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:47504454C>A	ENST00000399232.2	-	8	1736	c.1372G>T	c.(1372-1374)Gga>Tga	p.G458*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.G229*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.G527*|MDGA2_ENST00000426342.1_Nonsense_Mutation_p.G229*	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	458	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G229*(2)|p.G527*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTGTGTCTCCTTCTCTGGTG	0.393																																						uc001wwj.3																			3	Substitution - Nonsense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1372-1374)GGA>TGA		MAM domain containing 1 isoform 1							192.0	164.0	173.0					14																	47504454		1896	4117	6013	SO:0001587	stop_gained	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504454C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1372G>T	14.37:g.47504454C>A	ENSP00000382178:p.Gly458*					MDGA2_uc001wwi.3_Nonsense_Mutation_p.G229*|MDGA2_uc010ani.2_Nonsense_Mutation_p.G18*	p.G458*	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1568	-			458			Ig-like 5.		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37	c.1372G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.201690|4.201690	0.79015|0.79015	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.50627|.	U|.	0.000111|.	.|T	.|0.74261	.|0.3693	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72686	.|-0.4218	.|4	0.87932|.	D|.	0|.	.|.	18.0085|18.0085	0.89216|0.89216	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	458;229;527;229|232	.|.	ENSP00000349925:G229X|.	G|R	-|-	1|2	0|0	MDGA2|MDGA2	46574204|46574204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.608000|2.608000	0.88229|0.88229	0.491000|0.491000	0.48974|0.48974	GGA|AGG		PASS	0.393	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		33	23	33	23	---	---	---	---
DNAAF2	55172	broad.mit.edu	37	14	50101289	50101289	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:50101289C>T	ENST00000298292.8	-	1	659	c.579G>A	c.(577-579)aaG>aaA	p.K193K	DNAAF2_ENST00000406043.3_Silent_p.K193K	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	193					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.K193K(2)		kidney(1)|lung(4)	5						CTGGGGTCCCCTTATACTTGG	0.682																																						uc001wws.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(577-579)AAG>AAA		kintoun isoform 1							38.0	40.0	39.0					14																	50101289		1904	4114	6018	SO:0001819	synonymous_variant	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50101289C>T	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.579G>A	14.37:g.50101289C>T						SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.K193K	p.K193K	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	660	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		193					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.579G>A	CCDS9691.2																																																																																				PASS	0.682	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			7	41	7	41	---	---	---	---
NEMF	9147	broad.mit.edu	37	14	50272849	50272849	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:50272849C>T	ENST00000298310.5	-	19	2196	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	NEMF_ENST00000545773.1_Missense_Mutation_p.E541K|NEMF_ENST00000546046.1_Missense_Mutation_p.E562K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	583					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.E583K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGGATGGGTTCTCCTAGAATA	0.458																																						uc001wxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)GAA>AAA		serologically defined colon cancer antigen 1							88.0	74.0	79.0					14																	50272849		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50272849C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1747G>A	14.37:g.50272849C>T	ENSP00000298310:p.Glu583Lys					SDCCAG1_uc010anj.1_Missense_Mutation_p.E583K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.E562K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.E541K|SDCCAG1_uc001wxd.1_5'UTR	p.E583K	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	19	1815	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	583					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.1747G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025898	0.75390	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44881	0.93;0.91;0.95;0.91	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.174138	0.49305	D	0.000158	T	0.36082	0.0954	N	0.20881	0.62	0.80722	D	1	B;B;B;B	0.22414	0.012;0.046;0.05;0.069	B;B;B;B	0.32980	0.026;0.043;0.026;0.156	T	0.13124	-1.0521	10	0.12103	T	0.63	-18.5336	20.1162	0.97934	0.0:1.0:0.0:0.0	.	562;558;541;583	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	K	583;541;562;355;541	ENSP00000298310:E583K;ENSP00000438309:E541K;ENSP00000441016:E562K;ENSP00000452540:E541K	ENSP00000298310:E583K	E	-	1	0	NEMF	49342599	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.290000	0.51755	2.861000	0.98227	0.650000	0.86243	GAA		PASS	0.458	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		18	18	18	18	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50824773	50824773	+	5'UTR	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:50824773G>A	ENST00000356146.1	-	0	2194				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CTTCAGGAAGGGACCCCCTCC	0.532																																						uc010anu.1																			0				ovary(1)|stomach(1)	2						c.(2194-2196)CCC>CTC		cyclin-dependent kinase-like 1							51.0	49.0	49.0					14																	50824773		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50824773G>A	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-788C>T	14.37:g.50824773G>A						CDKL1_uc001wxz.2_Intron	p.P732L	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			15	2195	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000356146.1	37	c.2195C>T																																																																																					PASS	0.532	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2			14	16	14	16	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52182080	52182080	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:52182080C>T	ENST00000344768.5	+	10	1083	c.887C>T	c.(886-888)tCt>tTt	p.S296F	FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000554167.1_Missense_Mutation_p.S219F|FRMD6_ENST00000395718.2_Missense_Mutation_p.S288F|FRMD6_ENST00000356218.4_Missense_Mutation_p.S288F			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	296	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S288F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCTTGCCTTCTGCCCGGAAG	0.483																																						uc001wzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(886-888)TCT>TTT		FERM domain containing 6							58.0	60.0	60.0					14																	52182080		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52182080C>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.887C>T	14.37:g.52182080C>T	ENSP00000343899:p.Ser296Phe					FRMD6_uc001wzb.2_Missense_Mutation_p.S288F|FRMD6_uc001wzc.2_Missense_Mutation_p.S288F|FRMD6_uc001wze.2_Missense_Mutation_p.S219F|FRMD6_uc001wzf.2_5'UTR|FRMD6_uc001wzg.2_5'Flank	p.S296F	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			10	1172	+	all_epithelial(31;0.0163)|Breast(41;0.089)		296			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.887C>T	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444699	0.83993	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.96	5.96	0.96718	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.125602	0.56097	D	0.000027	D	0.90776	0.7104	M	0.71581	2.175	0.80722	D	1	D;D;D	0.64830	0.984;0.994;0.992	D;D;D	0.72075	0.944;0.976;0.959	D	0.90815	0.4704	10	0.72032	D	0.01	.	18.5761	0.91155	0.0:1.0:0.0:0.0	.	219;296;288	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	F	288;288;296;219;26	ENSP00000348550:S288F;ENSP00000379068:S288F;ENSP00000343899:S296F;ENSP00000451977:S219F;ENSP00000451157:S26F	ENSP00000343899:S296F	S	+	2	0	FRMD6	51251830	1.000000	0.71417	0.972000	0.41901	0.507000	0.33981	6.026000	0.70873	2.830000	0.97506	0.655000	0.94253	TCT		PASS	0.483	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		9	42	9	42	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534585	52534585	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:52534585G>T	ENST00000216286.5	-	2	524	c.525C>A	c.(523-525)ccC>ccA	p.P175P	NID2_ENST00000541773.1_Silent_p.P122P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	175	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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.P175P(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)					CCTCTCCCGAGGGCAGCGCCC	0.617																																						uc001wzo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(523-525)CCC>CCA		nidogen 2 precursor							91.0	110.0	104.0					14																	52534585		2136	4219	6355	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534585G>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.525C>A	14.37:g.52534585G>T						NID2_uc010tqs.1_Silent_p.P175P|NID2_uc010tqt.1_Silent_p.P175P|NID2_uc001wzp.2_Silent_p.P175P	p.P175P	NM_007361	NP_031387	Q14112	NID2_HUMAN			2	759	-	Breast(41;0.0639)|all_epithelial(31;0.123)		175			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.525C>A	CCDS9706.1																																																																																				PASS	0.617	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			83	49	83	49	---	---	---	---
FERMT2	10979	broad.mit.edu	37	14	53341991	53341991	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:53341991G>A	ENST00000395631.2	-	8	1264	c.1048C>T	c.(1048-1050)Ctt>Ttt	p.L350F	FERMT2_ENST00000343279.4_Missense_Mutation_p.L350F|FERMT2_ENST00000399304.3_Missense_Mutation_p.L350F|FERMT2_ENST00000341590.3_Missense_Mutation_p.L350F|FERMT2_ENST00000553373.1_Missense_Mutation_p.L350F			Q96AC1	FERM2_HUMAN	fermitin family member 2	350	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.L350F(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGGTCTGAAAGGGCAGCATCA	0.358																																						uc001xad.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1048-1050)CTT>TTT		fermitin family homolog 2 isoform 1							144.0	130.0	135.0					14																	53341991		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53341991G>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1048C>T	14.37:g.53341991G>A	ENSP00000378993:p.Leu350Phe					FERMT2_uc001xac.2_Missense_Mutation_p.L350F|FERMT2_uc001xae.2_Missense_Mutation_p.L350F|FERMT2_uc001xaf.2_Missense_Mutation_p.L350F	p.L350F	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN			8	1103	-	Breast(41;0.0342)		350			FERM.		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.1048C>T	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002542	0.93227	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.52	5.52	0.82312	Band 4.1 domain (1);FERM central domain (2);	0.000000	0.85682	D	0.000000	D	0.89880	0.6843	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90744	0.4652	10	0.87932	D	0	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	350;350;350	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	F	350;350;303;350;350;350	ENSP00000378993:L350F;ENSP00000340391:L350F;ENSP00000450741:L303F;ENSP00000342858:L350F;ENSP00000451084:L350F;ENSP00000382243:L350F	ENSP00000340391:L350F	L	-	1	0	FERMT2	52411741	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.952000	0.87827	2.760000	0.94817	0.655000	0.94253	CTT		PASS	0.358	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		9	61	9	61	---	---	---	---
SAMD4A	23034	broad.mit.edu	37	14	55218235	55218235	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:55218235C>T	ENST00000554335.1	+	6	1819	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	SAMD4A_ENST00000251091.5_Missense_Mutation_p.L298F|SAMD4A_ENST00000392067.3_Missense_Mutation_p.L386F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L385F			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	386	SAM.				negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.L385F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AAGACAAAATCTCCTGAAGTC	0.348																																						uc001xbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)CTC>TTC		sterile alpha motif domain containing 4 isoform							104.0	113.0	110.0					14																	55218235		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55218235C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1156C>T	14.37:g.55218235C>T	ENSP00000452535:p.Leu386Phe					SAMD4A_uc001xbc.2_Missense_Mutation_p.L297F	p.L385F	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN			5	1154	+			386			SAM.		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1153C>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017417	0.75161	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.08	5.2	0.72013	Smaug, pseudo-HEAT analogous topology (1);	0.067791	0.64402	D	0.000009	T	0.66567	0.2802	L	0.48642	1.525	0.54753	D	0.999984	D;P	0.57257	0.979;0.933	P;P	0.56960	0.81;0.542	T	0.68808	-0.5311	9	0.54805	T	0.06	-13.3652	17.0295	0.86457	0.1284:0.8716:0.0:0.0	.	298;386	Q9UPU9-3;Q9UPU9	.;SMAG1_HUMAN	F	386;386;298;297;385	.	ENSP00000306381:L298F	L	+	1	0	SAMD4A	54287985	0.978000	0.34361	1.000000	0.80357	0.974000	0.67602	1.517000	0.35867	1.598000	0.50083	-0.127000	0.14921	CTC		PASS	0.348	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		4	48	4	48	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55429227	55429227	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:55429227G>A	ENST00000360586.3	-	21	2755	c.2690C>T	c.(2689-2691)tCa>tTa	p.S897L	WDHD1_ENST00000421192.1_Missense_Mutation_p.S774L|WDHD1_ENST00000359167.4_Missense_Mutation_p.S415L|WDHD1_ENST00000420358.2_Missense_Mutation_p.S774L	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	897					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.S897L(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TGACTTAGCTGAAACATCAGA	0.313																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2689-2691)TCA>TTA		WD repeat and HMG-box DNA binding protein 1							63.0	68.0	67.0					14																	55429227		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429227G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2690C>T	14.37:g.55429227G>A	ENSP00000353793:p.Ser897Leu					WDHD1_uc010aom.1_Missense_Mutation_p.S414L|WDHD1_uc001xbn.1_Missense_Mutation_p.S774L	p.S897L	NM_007086	NP_009017	O75717	WDHD1_HUMAN			21	2768	-			897					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2690C>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	2.065	-0.414375	0.04766	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.63096	0.33;0.84;-0.02	4.9	3.97	0.46021	.	0.403388	0.23072	N	0.052259	T	0.39226	0.1070	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.002	B;B	0.17722	0.019;0.003	T	0.16394	-1.0404	10	0.30078	T	0.28	.	6.3759	0.21507	0.0948:0.0:0.7215:0.1837	.	415;897	F8W7P7;O75717	.;WDHD1_HUMAN	L	897;415;774	ENSP00000353793:S897L;ENSP00000352085:S415L;ENSP00000391049:S774L	ENSP00000352085:S415L	S	-	2	0	WDHD1	54498977	0.023000	0.18921	0.112000	0.21494	0.056000	0.15407	0.920000	0.28705	1.133000	0.42147	0.561000	0.74099	TCA		PASS	0.313	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		20	22	20	22	---	---	---	---
TMEM260	54916	broad.mit.edu	37	14	57103235	57103235	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:57103235A>G	ENST00000261556.6	+	15	1910	c.1788A>G	c.(1786-1788)acA>acG	p.T596T	RP11-1085N6.2_ENST00000555924.1_RNA|RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Silent_p.T130T	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	596						integral component of membrane (GO:0016021)		p.T596T(1)									GGATGAAAACACCGTTCTTCA	0.418																																						uc001xcm.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1786-1788)ACA>ACG		hypothetical protein LOC54916							99.0	89.0	92.0					14																	57103235		2203	4300	6503	SO:0001819	synonymous_variant	54916					integral to membrane		g.chr14:57103235A>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1788A>G	14.37:g.57103235A>G						C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Silent_p.T129T|C14orf101_uc001xco.2_Silent_p.T129T	p.T596T	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	15	1910	+			596					A8KAN4|B3KPF5|Q86XE1	Silent	SNP	ENST00000261556.6	37	c.1788A>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	9.390	1.075224	0.20227	.	.	ENSG00000070269	ENST00000555046	.	.	.	4.91	-5.15	0.02866	.	.	.	.	.	T	0.38427	0.1040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	4	.	.	.	-2.9267	2.9593	0.05887	0.3744:0.3815:0.1344:0.1097	.	.	.	.	R	1	.	.	H	+	2	0	C14orf101	56172988	0.004000	0.15560	0.173000	0.22940	0.889000	0.51656	-1.649000	0.01993	-1.160000	0.02804	0.460000	0.39030	CAC		PASS	0.418	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		20	19	20	19	---	---	---	---
GPR135	64582	broad.mit.edu	37	14	59931115	59931115	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:59931115A>G	ENST00000395116.1	-	1	945	c.830T>C	c.(829-831)tTc>tCc	p.F277S		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F277S(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CCCCACGCTGAAGGCCGCGCC	0.711																																						uc010apj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)TTC>TCC		G protein-coupled receptor 135							8.0	8.0	8.0					14																	59931115		2105	4170	6275	SO:0001583	missense	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59931115A>G	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.830T>C	14.37:g.59931115A>G	ENSP00000378548:p.Phe277Ser					GPR135_uc001xed.2_RNA	p.F277S	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	945	-			277			Helical; Name=7; (Potential).		Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	ENST00000395116.1	37	c.830T>C	CCDS9738.1	.	.	.	.	.	.	.	.	.	.	a	17.24	3.339358	0.60963	.	.	ENSG00000181619	ENST00000395116;ENST00000539022	T	0.38722	1.12	4.57	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.075061	0.56097	U	0.000035	T	0.36580	0.0972	L	0.56769	1.78	0.80722	D	1	P	0.37573	0.6	B	0.33121	0.158	T	0.24119	-1.0169	10	0.87932	D	0	-6.5779	10.4424	0.44472	0.1482:0.0:0.0:0.8518	.	277	Q8IZ08	GP135_HUMAN	S	277;264	ENSP00000378548:F277S	ENSP00000378548:F277S	F	-	2	0	GPR135	59000868	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.176000	0.50863	0.592000	0.29728	-0.456000	0.05471	TTC		PASS	0.711	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		2	2	2	2	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60212645	60212645	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:60212645C>T	ENST00000267484.5	-	2	1131	c.796G>A	c.(796-798)Gat>Aat	p.D266N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	266					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.D266N(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAGAGAGATCATCTATGTAT	0.463																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(796-798)GAT>AAT		reticulon 1 isoform A							161.0	155.0	157.0					14																	60212645		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212645C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.796G>A	14.37:g.60212645C>T	ENSP00000267484:p.Asp266Asn						p.D266N	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1005	-			266					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.796G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777026	0.49786	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.23754	1.89	5.53	4.65	0.58169	.	0.175099	0.48286	N	0.000183	T	0.21761	0.0524	L	0.38531	1.155	0.27048	N	0.963854	B	0.06786	0.001	B	0.04013	0.001	T	0.15752	-1.0426	10	0.62326	D	0.03	.	12.1887	0.54254	0.0:0.9169:0.0:0.0831	.	266	Q16799	RTN1_HUMAN	N	266;192	ENSP00000267484:D266N	ENSP00000267484:D266N	D	-	1	0	RTN1	59282398	0.479000	0.25925	0.972000	0.41901	0.928000	0.56348	1.287000	0.33284	1.332000	0.45431	0.557000	0.71058	GAT		PASS	0.463	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			31	35	31	35	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60581593	60581593	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:60581593T>G	ENST00000406854.1	+	3	1419	c.865T>G	c.(865-867)Tta>Gta	p.L289V	PCNXL4_ENST00000317623.4_Missense_Mutation_p.L55V|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L55V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L289V			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	289						integral component of membrane (GO:0016021)		p.L55V(1)|p.L289V(1)									GTCAACCCACTTACGGTATTT	0.368																																						uc001xer.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(163-165)TTA>GTA		hepatitis C virus F protein-binding protein 2							111.0	106.0	108.0					14																	60581593		1810	4066	5876	SO:0001583	missense	64430					integral to membrane		g.chr14:60581593T>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.865T>G	14.37:g.60581593T>G	ENSP00000384801:p.Leu289Val					C14orf135_uc001xeq.2_Missense_Mutation_p.L55V	p.L55V	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	2	685	+		Myeloproliferative disorder(585;0.163)	289					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.163T>G		.	.	.	.	.	.	.	.	.	.	T	8.926	0.962154	0.18583	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.26067	1.76;1.76;1.8;1.76	5.08	0.923	0.19413	.	.	.	.	.	T	0.18882	0.0453	M	0.67953	2.075	0.80722	D	1	B;D	0.54397	0.451;0.966	B;B	0.39217	0.086;0.294	T	0.13872	-1.0493	9	0.37606	T	0.19	.	1.419	0.02308	0.1454:0.3387:0.1259:0.3899	.	289;55	Q63HM2;B5MC47	CN135_HUMAN;.	V	55;289;55;289	ENSP00000317396:L55V;ENSP00000384801:L289V;ENSP00000385201:L55V;ENSP00000385713:L289V	ENSP00000317396:L55V	L	+	1	2	C14orf135	59651346	0.158000	0.22850	0.866000	0.34008	0.556000	0.35491	-0.296000	0.08287	0.267000	0.21916	-1.489000	0.00976	TTA		PASS	0.368	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		15	76	15	76	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174668	63174668	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:63174668T>G	ENST00000322893.7	-	11	2793	c.2525A>C	c.(2524-2526)gAg>gCg	p.E842A	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	842					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E842A(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTGGGGTCCTCAGACAATAG	0.433																																						uc001xfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2524-2526)GAG>GCG		potassium voltage-gated channel, subfamily H,							162.0	150.0	154.0					14																	63174668		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174668T>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2525A>C	14.37:g.63174668T>G	ENSP00000321427:p.Glu842Ala					KCNH5_uc001xfy.2_3'UTR	p.E842A	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	2576	-			842			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2525A>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498129	0.26861	.	.	ENSG00000140015	ENST00000322893	D	0.99176	-5.52	5.92	5.92	0.95590	.	0.245549	0.42172	D	0.000742	D	0.97219	0.9091	L	0.38175	1.15	0.80722	D	1	B	0.16396	0.017	B	0.20767	0.031	D	0.95535	0.8607	10	0.33141	T	0.24	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	842	Q8NCM2	KCNH5_HUMAN	A	842	ENSP00000321427:E842A	ENSP00000321427:E842A	E	-	2	0	KCNH5	62244421	0.998000	0.40836	1.000000	0.80357	0.773000	0.43773	4.923000	0.63412	2.282000	0.76494	0.529000	0.55759	GAG		PASS	0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		34	30	34	30	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63269105	63269105	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:63269105G>A	ENST00000322893.7	-	9	2032	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	KCNH5_ENST00000394968.1_Silent_p.C530C|KCNH5_ENST00000420622.2_Silent_p.C588C	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	588					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.C530C(1)|p.C588C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACACCACAAAGCAGAGGGCAT	0.507																																						uc001xfx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1762-1764)TGC>TGT		potassium voltage-gated channel, subfamily H,							113.0	98.0	103.0					14																	63269105		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269105G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1764C>T	14.37:g.63269105G>A						KCNH5_uc001xfy.2_Silent_p.C588C|KCNH5_uc001xfz.1_Silent_p.C530C	p.C588C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1815	-			588			cNMP.|Cytoplasmic (Potential).		C9JP98	Silent	SNP	ENST00000322893.7	37	c.1764C>T	CCDS9756.1																																																																																				PASS	0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		21	35	21	35	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63269132	63269132	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:63269132A>C	ENST00000322893.7	-	9	2005	c.1737T>G	c.(1735-1737)caT>caG	p.H579Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.H521Q|KCNH5_ENST00000420622.2_Missense_Mutation_p.H579Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	579					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.H521Q(1)|p.H579Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTCTCCAGCATGGTAAATGA	0.517																																						uc001xfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1735-1737)CAT>CAG		potassium voltage-gated channel, subfamily H,							104.0	91.0	96.0					14																	63269132		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269132A>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1737T>G	14.37:g.63269132A>C	ENSP00000321427:p.His579Gln					KCNH5_uc001xfy.2_Missense_Mutation_p.H579Q|KCNH5_uc001xfz.1_Missense_Mutation_p.H521Q	p.H579Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1788	-			579			cNMP.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1737T>G	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653701	0.47362	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96491	-3.03;-4.03;-3.03	5.03	-5.18	0.02840	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	M	0.73430	2.235	0.80722	D	1	B;B;D	0.89917	0.206;0.096;1.0	B;B;D	0.97110	0.31;0.212;1.0	D	0.94630	0.7821	10	0.87932	D	0	.	9.8745	0.41195	0.3872:0.1068:0.506:0.0	.	521;579;579	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	Q	579;579;521	ENSP00000321427:H579Q;ENSP00000395439:H579Q;ENSP00000378419:H521Q	ENSP00000321427:H579Q	H	-	3	2	KCNH5	62338885	0.431000	0.25546	0.954000	0.39281	0.788000	0.44548	-0.118000	0.10692	-0.920000	0.03799	-1.366000	0.01203	CAT		PASS	0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		18	28	18	28	---	---	---	---
GPHB5	122876	broad.mit.edu	37	14	63784447	63784447	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:63784447C>T	ENST00000539258.1	-	0	173							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.R39R(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AAGTAAACTCCCTCACGGCAC	0.617																																						uc010apu.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(115-117)AGG>AGA		glycoprotein beta 5							43.0	47.0	46.0					14																	63784447		2007	4170	6177			122876					extracellular region	hormone activity	g.chr14:63784447C>T	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784447C>T						GPHB5_uc001xgc.2_Silent_p.R29R	p.R39R	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	1	117	-			39					Q6NTD0|Q8NFW2	Silent	SNP	ENST00000539258.1	37	c.117G>A																																																																																					PASS	0.617	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		15	18	15	18	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64483250	64483250	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:64483250G>A	ENST00000344113.4	+	33	5000	c.4788G>A	c.(4786-4788)caG>caA	p.Q1596Q	SYNE2_ENST00000554584.1_Silent_p.Q1596Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.Q1596Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1596					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q1596Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATAAACCAGGTCTGCAAAA	0.279																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(4786-4788)CAG>CAA		spectrin repeat containing, nuclear envelope 2							25.0	24.0	24.0					14																	64483250		1779	4039	5818	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64483250G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4788G>A	14.37:g.64483250G>A						SYNE2_uc001xgl.2_Silent_p.Q1596Q	p.Q1596Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	33	5018	+			1596			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.4788G>A	CCDS41963.1																																																																																				PASS	0.279	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		10	10	10	10	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64540702	64540702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:64540702C>T	ENST00000344113.4	+	53	10926	c.10714C>T	c.(10714-10716)Cag>Tag	p.Q3572*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q3605*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q3572*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q206*|SYNE2_ENST00000394768.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3572					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q3572*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGAAAGTTCAGAAAAATAA	0.303																																						uc001xgm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10714-10716)CAG>TAG		spectrin repeat containing, nuclear envelope 2							104.0	103.0	103.0					14																	64540702		1798	4065	5863	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64540702C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10714C>T	14.37:g.64540702C>T	ENSP00000341781:p.Gln3572*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q3572*|SYNE2_uc010apy.2_5'Flank|SYNE2_uc010apw.1_Nonsense_Mutation_p.Q278*|SYNE2_uc010apx.1_5'UTR	p.Q3572*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	53	10944	+			3572			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.10714C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	53	20.382334	0.99930	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	.	.	.	5.3	4.4	0.53042	.	0.101974	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	13.6314	0.62198	0.1555:0.8445:0.0:0.0	.	.	.	.	X	3572;3572;3605;3605;206	.	ENSP00000261678:Q3605X	Q	+	1	0	SYNE2	63610455	0.921000	0.31238	0.173000	0.22940	0.584000	0.36387	1.604000	0.36804	1.351000	0.45789	0.655000	0.94253	CAG		PASS	0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		67	63	67	63	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64690055	64690055	+	Missense_Mutation	SNP	G	G	T	rs202240664	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:64690055G>T	ENST00000344113.4	+	112	20482	c.20270G>T	c.(20269-20271)cGg>cTg	p.R6757L	SYNE2_ENST00000554584.1_Missense_Mutation_p.R6673L|SYNE2_ENST00000357395.3_Missense_Mutation_p.R3142L|SYNE2_ENST00000358025.3_Missense_Mutation_p.R6780L|SYNE2_ENST00000554805.1_Missense_Mutation_p.R540L|SYNE2_ENST00000441438.2_Missense_Mutation_p.R302L|SYNE2_ENST00000555002.1_Missense_Mutation_p.R3414L|SYNE2_ENST00000394768.2_Missense_Mutation_p.R3142L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.R428L|SYNE2_ENST00000555022.1_Missense_Mutation_p.R635L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6757					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R6780L(1)|p.R6780Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAGTTACGGGAGCAAGTG	0.428																																						uc001xgm.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20269-20271)CGG>CTG		spectrin repeat containing, nuclear envelope 2							101.0	97.0	98.0					14																	64690055		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64690055G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20270G>T	14.37:g.64690055G>T	ENSP00000341781:p.Arg6757Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.R6780L|SYNE2_uc010apy.2_Missense_Mutation_p.R3142L|SYNE2_uc001xgn.2_Missense_Mutation_p.R1719L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.R727L|SYNE2_uc001xgq.2_Missense_Mutation_p.R1136L|SYNE2_uc001xgr.2_Missense_Mutation_p.R540L|SYNE2_uc010tsi.1_Missense_Mutation_p.R414L|SYNE2_uc001xgs.2_Missense_Mutation_p.R428L|SYNE2_uc001xgt.2_Missense_Mutation_p.R302L	p.R6757L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	112	20500	+			6757			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20270G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	5.121	0.207972	0.09704	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	6.03	-0.508	0.11980	.	0.542979	0.15274	N	0.271063	T	0.07188	0.0182	N	0.00566	-1.37	0.30020	N	0.814456	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B;B	0.08055	0.0;0.0;0.0;0.003;0.0;0.0;0.001;0.001	T	0.38134	-0.9675	10	0.14252	T	0.57	.	7.5204	0.27624	0.2722:0.0:0.3173:0.4105	.	414;3142;302;428;1159;6673;6757;6780	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	L	6780;3142;6757;6673;6679;3414;3142;635;540;428;302	ENSP00000350719:R6780L;ENSP00000349969:R3142L;ENSP00000341781:R6757L;ENSP00000452570:R6673L;ENSP00000450831:R3414L;ENSP00000378249:R3142L;ENSP00000451009:R635L;ENSP00000450605:R540L;ENSP00000391937:R428L;ENSP00000396794:R302L	ENSP00000261678:R6679L	R	+	2	0	SYNE2	63759808	0.061000	0.20836	0.026000	0.17262	0.110000	0.19582	0.696000	0.25541	-0.306000	0.08818	-2.671000	0.00144	CGG		PASS	0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		4	43	4	43	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64691254	64691254	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:64691254C>T	ENST00000344113.4	+	113	20601	c.20389C>T	c.(20389-20391)Ccc>Tcc	p.P6797S	SYNE2_ENST00000554584.1_Missense_Mutation_p.P6713S|SYNE2_ENST00000357395.3_Missense_Mutation_p.P3182S|SYNE2_ENST00000358025.3_Missense_Mutation_p.P6820S|SYNE2_ENST00000554805.1_Missense_Mutation_p.P580S|SYNE2_ENST00000441438.2_Missense_Mutation_p.P342S|SYNE2_ENST00000555002.1_Missense_Mutation_p.P3454S|SYNE2_ENST00000394768.2_Missense_Mutation_p.P3182S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.P468S|SYNE2_ENST00000555022.1_Missense_Mutation_p.P675S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6797					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.P6820S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGTGCCAGCTCCCCGAGCAAA	0.532																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20389-20391)CCC>TCC		spectrin repeat containing, nuclear envelope 2							67.0	68.0	68.0					14																	64691254		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64691254C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.20389C>T	14.37:g.64691254C>T	ENSP00000341781:p.Pro6797Ser					SYNE2_uc001xgl.2_Missense_Mutation_p.P6820S|SYNE2_uc010apy.2_Missense_Mutation_p.P3182S|SYNE2_uc001xgn.2_Missense_Mutation_p.P1759S|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.P767S|SYNE2_uc001xgq.2_Missense_Mutation_p.P1176S|SYNE2_uc001xgr.2_Missense_Mutation_p.P580S|SYNE2_uc010tsi.1_Missense_Mutation_p.P454S|SYNE2_uc001xgs.2_Missense_Mutation_p.P468S|SYNE2_uc001xgt.2_Missense_Mutation_p.P342S	p.P6797S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	113	20619	+			6797			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20389C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	8.304	0.820493	0.16678	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.57595	0.72;4.05;0.75;0.39;4.07;4.05;3.7;3.22;2.92;2.7	4.27	-1.66	0.08265	.	0.378995	0.22250	N	0.062563	T	0.27663	0.0680	N	0.13168	0.305	0.09310	N	0.999998	B;B;B;B;B;B;B;B	0.17667	0.001;0.009;0.023;0.003;0.005;0.005;0.004;0.006	B;B;B;B;B;B;B;B	0.21360	0.002;0.034;0.01;0.01;0.004;0.003;0.004;0.007	T	0.09037	-1.0693	10	0.51188	T	0.08	.	4.0087	0.09613	0.5128:0.2701:0.0:0.217	.	454;3182;342;468;1199;6713;6797;6820	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	S	6820;3182;6797;6713;6719;3454;3182;675;580;468;342	ENSP00000350719:P6820S;ENSP00000349969:P3182S;ENSP00000341781:P6797S;ENSP00000452570:P6713S;ENSP00000450831:P3454S;ENSP00000378249:P3182S;ENSP00000451009:P675S;ENSP00000450605:P580S;ENSP00000391937:P468S;ENSP00000396794:P342S	ENSP00000261678:P6719S	P	+	1	0	SYNE2	63761007	0.000000	0.05858	0.078000	0.20375	0.010000	0.07245	-0.546000	0.06062	-0.299000	0.08909	0.555000	0.69702	CCC		PASS	0.532	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		9	41	9	41	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64898345	64898345	+	Silent	SNP	C	C	T	rs368552917		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:64898345C>T	ENST00000545908.1	+	14	1804	c.1575C>T	c.(1573-1575)acC>acT	p.T525T	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.T469T			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	469	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.T469T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	ATGAACTGACCCAGACAGACA	0.468																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1405-1407)ACC>ACT		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						91.0	74.0	80.0					14																	64898345		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64898345C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1575C>T	14.37:g.64898345C>T						MTHFD1_uc010aqe.2_Silent_p.T505T|MTHFD1_uc010aqf.2_Silent_p.T525T	p.T469T	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	14	1794	+			469			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.1407C>T																																																																																					PASS	0.468	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			9	35	9	35	---	---	---	---
PPP1R36	145376	broad.mit.edu	37	14	65054875	65054875	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:65054875C>T	ENST00000298705.1	+	11	1040	c.944C>T	c.(943-945)cCa>cTa	p.P315L	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	315					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.P315L(1)									ATGCGTTCTCCAGTCATGTCT	0.438																																						uc001xhl.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(943-945)CCA>CTA		hypothetical protein LOC145376							109.0	107.0	107.0					14																	65054875		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65054875C>T		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.944C>T	14.37:g.65054875C>T	ENSP00000298705:p.Pro315Leu					C14orf50_uc001xhm.1_Missense_Mutation_p.P45L	p.P315L	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	11	1040	+			315					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.944C>T	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344646	0.82022	.	.	ENSG00000165807	ENST00000298705	T	0.66460	-0.21	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000007	T	0.81669	0.4871	M	0.79475	2.455	0.54753	D	0.99998	D	0.89917	1.0	D	0.81914	0.995	D	0.83720	0.0192	10	0.87932	D	0	-15.3106	15.0284	0.71687	0.0:1.0:0.0:0.0	.	315	Q96LQ0	PPR36_HUMAN	L	315	ENSP00000298705:P315L	ENSP00000298705:P315L	P	+	2	0	C14orf50	64124628	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.737000	0.55060	2.596000	0.87737	0.655000	0.94253	CCA		PASS	0.438	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365		16	120	16	120	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65207903	65207903	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:65207903C>T	ENST00000394691.1	+	16	1815	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P	PLEKHG3_ENST00000471182.2_Silent_p.P89P|PLEKHG3_ENST00000247226.7_Silent_p.P500P|PLEKHG3_ENST00000484731.2_Silent_p.P61P			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	556							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P500P(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGATGGACCCCCCAGGTGACA	0.612																																						uc001xho.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1666-1668)CCC>CCT		pleckstrin homology domain containing, family G,							107.0	111.0	110.0					14																	65207903		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65207903C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1668C>T	14.37:g.65207903C>T						PLEKHG3_uc001xhn.1_Silent_p.P500P|PLEKHG3_uc001xhp.2_Silent_p.P677P|PLEKHG3_uc010aqh.1_Silent_p.P98P|PLEKHG3_uc001xhq.1_Silent_p.P61P	p.P556P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	1937	+			556					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.1668C>T																																																																																					PASS	0.612	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		10	62	10	62	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65236401	65236401	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:65236401G>T	ENST00000389721.5	-	27	5876	c.5844C>A	c.(5842-5844)atC>atA	p.I1948I	SPTB_ENST00000542895.1_Silent_p.I1948I|SPTB_ENST00000556626.1_Silent_p.I1948I|SPTB_ENST00000389720.3_Silent_p.I1948I|SPTB_ENST00000389722.3_Silent_p.I1948I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1948					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.I1948I(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)		TCTCTGCATTGATGCCCTGGT	0.592																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(5842-5844)ATC>ATA		spectrin beta isoform b							97.0	102.0	100.0					14																	65236401		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:65236401G>T		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.5844C>A	14.37:g.65236401G>T						SPTB_uc001xhr.2_Silent_p.I1948I|SPTB_uc001xhs.2_Silent_p.I1948I|SPTB_uc001xhu.2_Silent_p.I1948I|SPTB_uc010aqi.2_Silent_p.I609I	p.I1948I	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)	27	5898	-		all_lung(585;4.15e-09)	1948			Spectrin 16.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.5844C>A	CCDS32100.1																																																																																				PASS	0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	117	5	117	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66208891	66208891	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:66208891C>T	ENST00000360689.5	+	11	3218	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y	FUT8_ENST00000394585.1_Silent_p.Y497Y|FUT8_ENST00000417683.1_Silent_p.Y91Y|FUT8_ENST00000394586.2_Silent_p.Y497Y|FUT8_ENST00000358307.2_Silent_p.Y368Y|FUT8_ENST00000557164.1_Silent_p.Y334Y	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	497					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.Y497Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATGACATCTACTATTTTGGGG	0.418																																						uc001xin.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1489-1491)TAC>TAT		fucosyltransferase 8 isoform a							122.0	123.0	122.0					14																	66208891		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208891C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1491C>T	14.37:g.66208891C>T						FUT8_uc001xio.2_Silent_p.Y497Y|FUT8_uc010tsp.1_Silent_p.Y334Y|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.Y497Y|FUT8_uc001xiq.2_Silent_p.Y368Y|FUT8_uc001xis.2_Silent_p.Y91Y	p.Y497Y	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2688	+			497			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.1491C>T	CCDS9775.1																																																																																				PASS	0.418	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		40	35	40	35	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66209112	66209112	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:66209112C>T	ENST00000360689.5	+	11	3439	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	FUT8_ENST00000394585.1_Missense_Mutation_p.P571L|FUT8_ENST00000417683.1_Missense_Mutation_p.P165L|FUT8_ENST00000394586.2_Missense_Mutation_p.P571L|FUT8_ENST00000358307.2_Missense_Mutation_p.P442L|FUT8_ENST00000557164.1_Missense_Mutation_p.P408L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	571					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.P571L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCACATATCCTGAGGCTGAG	0.443																																						uc001xin.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1711-1713)CCT>CTT		fucosyltransferase 8 isoform a							29.0	30.0	30.0					14																	66209112		2202	4299	6501	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66209112C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1712C>T	14.37:g.66209112C>T	ENSP00000353910:p.Pro571Leu					FUT8_uc001xio.2_Missense_Mutation_p.P571L|FUT8_uc010tsp.1_Missense_Mutation_p.P408L|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.P571L|FUT8_uc001xiq.2_Missense_Mutation_p.P442L|FUT8_uc001xis.2_Missense_Mutation_p.P165L	p.P571L	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2909	+			571			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1712C>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305869	0.60305	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.44482	1.88;1.88;1.53;1.88;1.51;0.92	5.85	5.85	0.93711	.	0.098768	0.64402	D	0.000001	T	0.36826	0.0981	L	0.48642	1.525	0.80722	D	1	P;P;P	0.42871	0.554;0.792;0.6	B;B;B	0.37650	0.074;0.185;0.255	T	0.31724	-0.9933	10	0.87932	D	0	-12.7783	12.5768	0.56367	0.1659:0.8341:0.0:0.0	.	165;442;571	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	L	571;571;408;571;442;165	ENSP00000353910:P571L;ENSP00000378087:P571L;ENSP00000452433:P408L;ENSP00000378086:P571L;ENSP00000351057:P442L;ENSP00000396770:P165L	ENSP00000351057:P442L	P	+	2	0	FUT8	65278865	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.930000	0.70104	2.767000	0.95098	0.563000	0.77884	CCT		PASS	0.443	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		18	19	18	19	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68221818	68221819	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:68221818_68221819CC>TT	ENST00000347230.4	-	37	7073_7074	c.6935_6936GG>AA	c.(6934-6936)aGG>aAA	p.R2312K	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.R158K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2312					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R2312K(2)|p.R2312R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGTTTTCTTCCTTCCAGAGCT	0.5																																						uc001xka.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(9)|breast(2)	11						c.(6934-6936)AGG>AGA|c.(6934-6936)AGG>AAG		zinc finger, FYVE domain containing 26																																				SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68221818C>T|g.chr14:68221819C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6935_6936delinsTT	14.37:g.68221818_68221819delinsTT	ENSP00000251119:p.Arg2312Lys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.R158R|ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.R158K	p.R2312R|p.R2312K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	37	7075|7074	-			2312					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent|Missense_Mutation	SNP	ENST00000347230.4	37	c.6936G>A|c.6935G>A	CCDS9788.1																																																																																				PASS	0.500	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		58|56	66	56	66	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68228265	68228265	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:68228265C>T	ENST00000347230.4	-	35	6544	c.6406G>A	c.(6406-6408)Gaa>Aaa	p.E2136K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E2136K|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2136					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.E2136K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGGTAGCTTCCAGTTCCCTC	0.478																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(6406-6408)GAA>AAA		zinc finger, FYVE domain containing 26							114.0	94.0	100.0					14																	68228265		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68228265C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6406G>A	14.37:g.68228265C>T	ENSP00000251119:p.Glu2136Lys					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_5'UTR|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E2136K	p.E2136K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	35	6545	-			2136					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.6406G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017041	0.75161	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27720	1.81;1.65	6.17	6.17	0.99709	.	0.048253	0.85682	D	0.000000	T	0.19846	0.0477	N	0.04148	-0.265	0.52099	D	0.999949	P;P	0.45474	0.859;0.779	P;B	0.45610	0.487;0.293	T	0.06899	-1.0801	10	0.30078	T	0.28	-18.0672	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	2136;2136	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	2136;2115;2136	ENSP00000251119:E2136K;ENSP00000450603:E2136K	ENSP00000251119:E2136K	E	-	1	0	ZFYVE26	67298018	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	5.737000	0.68606	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		10	10	10	10	---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69360386	69360386	+	Nonsense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:69360386T>A	ENST00000193403.6	-	9	1224	c.841A>T	c.(841-843)Aag>Tag	p.K281*	ACTN1_ENST00000394419.4_Nonsense_Mutation_p.K281*|ACTN1_ENST00000438964.2_Nonsense_Mutation_p.K281*|ACTN1_ENST00000376839.3_Nonsense_Mutation_p.K216*|ACTN1_ENST00000538545.2_Nonsense_Mutation_p.K281*|ACTN1_ENST00000554508.1_5'Flank	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	281	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.K281*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGGCCAGCTTCTCGTAGTCT	0.552																																						uc001xkl.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(841-843)AAG>TAG		actinin, alpha 1 isoform b							218.0	162.0	181.0					14																	69360386		2203	4300	6503	SO:0001587	stop_gained	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69360386T>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.841A>T	14.37:g.69360386T>A	ENSP00000193403:p.Lys281*					ACTN1_uc010ttb.1_Nonsense_Mutation_p.K216*|ACTN1_uc001xkm.2_Nonsense_Mutation_p.K281*|ACTN1_uc001xkn.2_Nonsense_Mutation_p.K281*|ACTN1_uc001xko.1_Nonsense_Mutation_p.K216*|ACTN1_uc010ttd.1_Nonsense_Mutation_p.K260*	p.K281*	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	9	1151	-			281			Spectrin 1.|Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Nonsense_Mutation	SNP	ENST00000193403.6	37	c.841A>T	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	T	38	7.271321	0.98179	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	.	.	.	4.79	4.79	0.61399	.	0.051398	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.4855	0.67614	0.0:0.0:0.0:1.0	.	.	.	.	X	281;281;281;216;281;216;260	.	ENSP00000193403:K281X	K	-	1	0	ACTN1	68430139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.935000	0.70145	1.984000	0.57885	0.533000	0.62120	AAG		PASS	0.552	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		6	56	6	56	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70515755	70515755	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:70515755C>T	ENST00000381269.2	-	7	2889	c.2136G>A	c.(2134-2136)ggG>ggA	p.G712G	SLC8A3_ENST00000534137.1_Silent_p.G709G|SLC8A3_ENST00000394330.2_Silent_p.G69G|SLC8A3_ENST00000533541.1_Silent_p.G69G|SLC8A3_ENST00000357887.3_Silent_p.G710G|SLC8A3_ENST00000528359.1_Silent_p.G710G|SLC8A3_ENST00000356921.2_Silent_p.G706G|SLC8A3_ENST00000216568.7_Silent_p.G83G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	712					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.G710G(1)|p.G712G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CATCCTCATCCCCTGCTGAAG	0.527																																						uc001xly.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(2134-2136)GGG>GGA		solute carrier family 8 (sodium/calcium							86.0	70.0	75.0					14																	70515755		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70515755C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2136G>A	14.37:g.70515755C>T						SLC8A3_uc001xlu.2_Silent_p.G69G|SLC8A3_uc001xlv.2_Silent_p.G83G|SLC8A3_uc001xlw.2_Silent_p.G709G|SLC8A3_uc001xlx.2_Silent_p.G710G|SLC8A3_uc001xlz.2_Silent_p.G706G|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.G69G	p.G712G	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	7	2890	-			712			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.2136G>A	CCDS35498.1																																																																																				PASS	0.527	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			17	17	17	17	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71209074	71209074	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:71209074G>A	ENST00000554752.2	-	6	1560	c.1561C>T	c.(1561-1563)Cct>Tct	p.P521S	MAP3K9_ENST00000553414.1_Missense_Mutation_p.P215S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P521S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P258S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P521S	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	521				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). {ECO:0000305}.	activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P521S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACCAGAAGGGAGGCTGATG	0.602																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(1561-1563)CCT>TCT		mitogen-activated protein kinase kinase kinase							93.0	91.0	91.0					14																	71209074		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209074G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1561C>T	14.37:g.71209074G>A	ENSP00000451612:p.Pro521Ser					MAP3K9_uc010ttk.1_Missense_Mutation_p.P258S|MAP3K9_uc001xmk.2_Missense_Mutation_p.P215S|MAP3K9_uc001xml.2_Missense_Mutation_p.P521S	p.P521S	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	6	1561	-			521	KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).				A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1561C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.022106	0.75275	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.75447	2.3	0.80722	D	1	P;D;P;P	0.65815	0.678;0.995;0.884;0.607	P;D;P;P	0.72625	0.686;0.978;0.706;0.584	T	0.03423	-1.1038	10	0.52906	T	0.07	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	258;521;521;215	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	S	521;521;215;521;258;249	ENSP00000451612:P521S;ENSP00000451038:P215S;ENSP00000370649:P521S;ENSP00000451921:P258S	ENSP00000005198:P521S	P	-	1	0	MAP3K9	70278827	1.000000	0.71417	0.993000	0.49108	0.644000	0.38419	9.793000	0.99091	2.882000	0.98803	0.655000	0.94253	CCT		PASS	0.602	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			18	29	18	29	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71542926	71542926	+	Silent	SNP	G	G	C	rs199766363		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:71542926G>C	ENST00000304743.2	+	28	5573	c.5127G>C	c.(5125-5127)acG>acC	p.T1709T	PCNX_ENST00000238570.5_Silent_p.T1637T|PCNX_ENST00000439984.3_Silent_p.T1598T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1709						integral component of membrane (GO:0016021)		p.T1709T(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)		ATTATGTTACGACCTCGTCTA	0.358																																						uc001xmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(5125-5127)ACG>ACC		pecanex-like 1							106.0	100.0	102.0					14																	71542926		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71542926G>C	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.5127G>C	14.37:g.71542926G>C						PCNX_uc010are.1_Silent_p.T1598T|PCNX_uc010arf.1_Silent_p.T497T	p.T1709T	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)	28	5573	+			1709					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.5127G>C	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	7.184	0.590128	0.13812	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.11	-1.52	0.08637	.	.	.	.	.	T	0.51736	0.1692	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43032	-0.9416	4	.	.	.	.	7.3965	0.26939	0.6885:0.1122:0.1993:0.0	.	.	.	.	P	696	.	.	R	+	2	0	PCNX	70612679	0.792000	0.28813	0.990000	0.47175	0.907000	0.53573	0.157000	0.16402	-0.324000	0.08589	-1.099000	0.02127	CGA		PASS	0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		15	26	15	26	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72202099	72202099	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:72202099C>T	ENST00000555818.1	+	20	5525	c.5177C>T	c.(5176-5178)cCt>cTt	p.P1726L	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P1180L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1705L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1705L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1726					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.P1726L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGATGAAGCCTTACAGCAGG	0.542																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(5176-5178)CCT>CTT		signal-induced proliferation-associated 1 like							119.0	105.0	110.0					14																	72202099		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72202099C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5177C>T	14.37:g.72202099C>T	ENSP00000450832:p.Pro1726Leu					SIPA1L1_uc001xmt.2_Missense_Mutation_p.P1705L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P1705L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P1726L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.P1180L|SIPA1L1_uc001xmw.2_Missense_Mutation_p.P491L	p.P1726L	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	20	5525	+			1726					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.5177C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139964	0.37728	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.15	5.15	0.70609	.	0.455288	0.24927	N	0.034499	T	0.28333	0.0700	L	0.33245	0.995	0.47949	D	0.999559	B;B;B;B;B	0.19073	0.0;0.005;0.001;0.004;0.033	B;B;B;B;B	0.25291	0.001;0.021;0.01;0.005;0.059	T	0.03795	-1.1003	10	0.39692	T	0.17	-3.2261	17.1596	0.86800	0.0:1.0:0.0:0.0	.	1180;1726;1180;1705;1726	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	L	1705;1726;1705;1180	ENSP00000370630:P1705L;ENSP00000450832:P1726L;ENSP00000351352:P1705L;ENSP00000440682:P1180L	ENSP00000351352:P1726L	P	+	2	0	SIPA1L1	71271852	0.993000	0.37304	0.775000	0.31657	0.694000	0.40290	3.226000	0.51254	2.561000	0.86390	0.655000	0.94253	CCT		PASS	0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		33	34	33	34	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73726100	73726100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:73726100C>T	ENST00000554301.1	+	15	1995	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F	PAPLN_ENST00000381166.3_Missense_Mutation_p.S611F|PAPLN_ENST00000427855.1_Missense_Mutation_p.S611F|PAPLN_ENST00000555445.1_Missense_Mutation_p.S611F|PAPLN_ENST00000340738.5_Missense_Mutation_p.S584F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	611						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.S611F(1)|p.S584F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCGCTCCCTCTCTGCAGCAG	0.701																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1831-1833)TCT>TTT		papilin							33.0	38.0	36.0					14																	73726100		2203	4299	6502	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73726100C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1832C>T	14.37:g.73726100C>T	ENSP00000451803:p.Ser611Phe					PAPLN_uc001xnw.3_Missense_Mutation_p.S584F|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.S611F|PAPLN_uc010arm.2_5'Flank	p.S611F	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	15	1995	+			611					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1832C>T		.	.	.	.	.	.	.	.	.	.	C	11.86	1.764942	0.31228	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64803	-0.12;-0.12;0.16;-0.12;0.01	3.88	2.93	0.34026	.	.	.	.	.	T	0.62962	0.2471	L	0.47716	1.5	0.09310	N	1	P;P;P	0.49783	0.911;0.855;0.928	P;P;P	0.50440	0.461;0.459;0.641	T	0.55068	-0.8198	9	0.87932	D	0	.	10.6322	0.45543	0.0:0.8062:0.1938:0.0	.	611;611;584	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	F	584;611;611;611;611	ENSP00000345395:S584F;ENSP00000403403:S611F;ENSP00000370558:S611F;ENSP00000451803:S611F;ENSP00000451729:S611F	ENSP00000216658:S611F	S	+	2	0	PAPLN	72795853	0.003000	0.15002	0.112000	0.21494	0.056000	0.15407	1.884000	0.39668	1.991000	0.58162	0.462000	0.41574	TCT		PASS	0.701	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		13	12	13	12	---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73743958	73743958	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:73743958G>A	ENST00000355058.3	-	13	1562	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	NUMB_ENST00000555394.1_Silent_p.L380L|NUMB_ENST00000554521.2_Silent_p.L222L|NUMB_ENST00000554546.1_Silent_p.L369L|NUMB_ENST00000454166.4_Silent_p.L282L|NUMB_ENST00000560335.1_Silent_p.L282L|NUMB_ENST00000555238.1_Silent_p.L428L|NUMB_ENST00000557597.1_Silent_p.L417L|NUMB_ENST00000544991.3_Silent_p.L233L|NUMB_ENST00000556772.1_Silent_p.L284L|NUMB_ENST00000555738.2_Silent_p.L271L|NUMB_ENST00000356296.4_Silent_p.L380L|NUMB_ENST00000359560.3_Silent_p.L417L|NUMB_ENST00000559312.1_Silent_p.L233L|NUMB_ENST00000535282.1_Silent_p.L417L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	428					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L428L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CGGCCTGGAAGAGACCTGGAG	0.567																																						uc001xny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1282-1284)CTC>CTT		numb homolog isoform 1							22.0	22.0	22.0					14																	73743958		2199	4295	6494	SO:0001819	synonymous_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743958G>A	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1284C>T	14.37:g.73743958G>A						NUMB_uc010aro.1_Silent_p.L233L|NUMB_uc010arp.1_Silent_p.L222L|NUMB_uc010arq.1_Silent_p.L282L|NUMB_uc010arr.1_Silent_p.L271L|NUMB_uc001xoa.1_Silent_p.L380L|NUMB_uc001xnz.1_Silent_p.L417L|NUMB_uc001xob.1_Silent_p.L369L|NUMB_uc001xod.1_Silent_p.L380L|NUMB_uc001xoc.1_Silent_p.L428L|NUMB_uc010ars.1_Silent_p.L417L|NUMB_uc010ttz.1_Silent_p.L126L|NUMB_uc001xoe.2_RNA	p.L428L	NM_001005743	NP_001005743	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	13	1604	-			428					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	ENST00000355058.3	37	c.1284C>T	CCDS32116.1																																																																																				PASS	0.567	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			10	11	10	11	---	---	---	---
ACOT4	122970	broad.mit.edu	37	14	74060560	74060560	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:74060560C>T	ENST00000326303.4	+	2	866	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	204					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)	p.S204S(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACAACATATCCCTGGAGTACT	0.438																																						uc001xoo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(610-612)TCC>TCT		acyl-CoA thioesterase 4							160.0	154.0	156.0					14																	74060560		2203	4300	6503	SO:0001819	synonymous_variant	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060560C>T	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.612C>T	14.37:g.74060560C>T							p.S204S	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	866	+			204					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.612C>T	CCDS9817.1																																																																																				PASS	0.438	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		30	34	30	34	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75276419	75276419	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:75276419C>T	ENST00000552421.1	+	6	2864	c.2740C>T	c.(2740-2742)Cct>Tct	p.P914S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P1620S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P1425S			P49750	YLPM1_HUMAN	YLP motif containing 1	1425	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P1620S(1)|p.P1425S(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CATTCCCCCTCCTGGCCCAGT	0.493																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(4858-4860)CCT>TCT		YLP motif containing 1							73.0	72.0	73.0					14																	75276419		1965	4162	6127	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276419C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2740C>T	14.37:g.75276419C>T	ENSP00000447921:p.Pro914Ser					YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.P103S	p.P1620S	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	7	4982	+			1425					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4858C>T		.	.	.	.	.	.	.	.	.	.	C	17.13	3.311992	0.60414	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000017	T	0.52964	0.1767	L	0.29908	0.895	0.41833	D	0.990087	D;P	0.61697	0.99;0.879	D;B	0.65443	0.935;0.316	T	0.46289	-0.9202	9	0.11794	T	0.64	-7.4797	9.4057	0.38460	0.15:0.6844:0.1656:0.0	.	1425;1620	P49750-3;P49750-4	.;.	S	914;1620;1425;1333;29	.	ENSP00000238571:P1425S	P	+	1	0	YLPM1	74346172	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.029000	0.41098	2.472000	0.83506	0.591000	0.81541	CCT		PASS	0.493	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		30	26	30	26	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75282952	75282952	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:75282952T>C	ENST00000552421.1	+	11	3555	c.3431T>C	c.(3430-3432)gTt>gCt	p.V1144A	YLPM1_ENST00000325680.7_Missense_Mutation_p.V1850A|YLPM1_ENST00000238571.3_Missense_Mutation_p.V1655A			P49750	YLPM1_HUMAN	YLP motif containing 1	1655	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V1850A(1)|p.V1655A(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AAGACACATGTTGCAAAACTT	0.363																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(5548-5550)GTT>GCT		YLP motif containing 1							122.0	114.0	117.0					14																	75282952		1880	4114	5994	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75282952T>C	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3431T>C	14.37:g.75282952T>C	ENSP00000447921:p.Val1144Ala					YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.V333A	p.V1850A	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	12	5673	+			1655					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.5549T>C		.	.	.	.	.	.	.	.	.	.	T	26.1	4.704526	0.88924	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	T;T;T	0.43688	0.94;0.94;0.94	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000020	T	0.65260	0.2674	M	0.73962	2.25	0.80722	D	1	P;D	0.57257	0.947;0.979	D;D	0.70716	0.97;0.946	T	0.69072	-0.5242	10	0.87932	D	0	-9.9419	16.1311	0.81442	0.0:0.0:0.0:1.0	.	1655;1850	P49750-3;P49750-4	.;.	A	1144;1850;1655;1563;259	ENSP00000447921:V1144A;ENSP00000324463:V1850A;ENSP00000448367:V259A	ENSP00000238571:V1655A	V	+	2	0	YLPM1	74352705	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.728000	0.84847	2.208000	0.71279	0.460000	0.39030	GTT		PASS	0.363	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		12	9	12	9	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75283756	75283756	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:75283756C>T	ENST00000552421.1	+	13	3814	c.3690C>T	c.(3688-3690)gaC>gaT	p.D1230D	YLPM1_ENST00000325680.7_Silent_p.D1936D|YLPM1_ENST00000238571.3_Silent_p.D1701D			P49750	YLPM1_HUMAN	YLP motif containing 1	1741					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.D1701D(1)|p.D1936D(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCATCAATGACAGAGTTAGGC	0.403																																						uc001xqj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(5806-5808)GAC>GAT		YLP motif containing 1							73.0	66.0	68.0					14																	75283756		1873	4110	5983	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75283756C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3690C>T	14.37:g.75283756C>T						YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.D419D	p.D1936D	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	14	5932	+			1741					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.5808C>T																																																																																					PASS	0.403	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		20	12	20	12	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75302035	75302035	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:75302035G>A	ENST00000552421.1	+	19	4368	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	YLPM1_ENST00000325680.7_Missense_Mutation_p.G2121E			P49750	YLPM1_HUMAN	YLP motif containing 1	1926					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G2121E(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTTGTGGTCGGACAGACTGAT	0.438																																						uc001xqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6361-6363)GGA>GAA		YLP motif containing 1							112.0	114.0	114.0					14																	75302035		1901	4120	6021	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75302035G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4244G>A	14.37:g.75302035G>A	ENSP00000447921:p.Gly1415Glu					YLPM1_uc001xql.3_RNA	p.G2121E	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	20	6486	+			1926					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.6362G>A		.	.	.	.	.	.	.	.	.	.	G	19.29	3.798584	0.70567	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000003	D	0.82531	0.5057	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82987	-0.0184	9	0.87932	D	0	-13.8932	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2121	P49750-4	.	E	1415;2121	.	ENSP00000324463:G2121E	G	+	2	0	YLPM1	74371788	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	GGA		PASS	0.438	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		46	49	46	49	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75321913	75321913	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:75321913C>T	ENST00000445876.1	-	5	1700	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	PROX2_ENST00000556489.2_Silent_p.K567K|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556084.2_Silent_p.K340K			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	567	Prospero-like.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K567K(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AAATGGGTTTCTTCCAGGAAG	0.453																																						uc001xqr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1699-1701)AAG>AAA		prospero homeobox 2							55.0	52.0	53.0					14																	75321913		1836	4080	5916	SO:0001819	synonymous_variant	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75321913C>T		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1701G>A	14.37:g.75321913C>T						uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.K266K	p.K567K	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	4	1701	-			567			Prospero-like.		C9J5W1|Q8N9Q3	Silent	SNP	ENST00000445876.1	37	c.1701G>A	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194142	0.38707	.	.	ENSG00000119608	ENST00000556084	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63400	-0.6646	4	.	.	.	.	13.1323	0.59389	0.0:0.9231:0.0:0.0769	.	.	.	.	K	340	.	.	R	-	2	0	PROX2	74391666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.652000	0.46682	2.446000	0.82766	0.462000	0.41574	AGA		PASS	0.453	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	26	6	26	---	---	---	---
IFT43	112752	broad.mit.edu	37	14	76488675	76488675	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:76488675C>T	ENST00000314067.6	+	3	187	c.153C>T	c.(151-153)tcC>tcT	p.S51S	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Silent_p.S51S|IFT43_ENST00000556742.1_Silent_p.S51S	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	51					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.S51S(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGTAGACTTCCTCTGCTAAAT	0.423																																						uc010asm.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(151-153)TCC>TCT		hypothetical protein LOC112752 isoform 2							161.0	159.0	160.0					14																	76488675		2203	4300	6503	SO:0001819	synonymous_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76488675C>T	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.153C>T	14.37:g.76488675C>T						C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Silent_p.S51S|C14orf179_uc001xsg.2_Silent_p.S51S|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Silent_p.S51S	p.S51S	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	3	187	+			51					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Silent	SNP	ENST00000314067.6	37	c.153C>T	CCDS41973.1																																																																																				PASS	0.423	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		32	43	32	43	---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77269739	77269739	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:77269739C>T	ENST00000251089.2	-	7	1705	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	ANGEL1_ENST00000557179.1_Missense_Mutation_p.M96I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	531								p.M531I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCACTCCTTCCATAAGGACCA	0.473																																						uc001xsv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1591-1593)ATG>ATA		angel homolog 1							106.0	104.0	105.0					14																	77269739		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77269739C>T	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1593G>A	14.37:g.77269739C>T	ENSP00000251089:p.Met531Ile					ANGEL1_uc010tvf.1_Intron	p.M531I	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	7	1706	-			531					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1593G>A	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874082	0.17395	.	.	ENSG00000013523	ENST00000251089;ENST00000557179;ENST00000555079	T;T	0.79940	-1.32;-1.32	5.51	3.53	0.40419	Endonuclease/exonuclease/phosphatase (2);	0.464584	0.25388	N	0.031029	T	0.49253	0.1546	N	0.01048	-1.04	0.29486	N	0.856016	B	0.02656	0.0	B	0.01281	0.0	T	0.44065	-0.9352	10	0.13853	T	0.58	-5.2607	9.4651	0.38809	0.1543:0.7665:0.0:0.0792	.	531	Q9UNK9	ANGE1_HUMAN	I	531;96;1	ENSP00000251089:M531I;ENSP00000451534:M96I	ENSP00000251089:M531I	M	-	3	0	ANGEL1	76339492	0.999000	0.42202	1.000000	0.80357	0.962000	0.63368	0.542000	0.23222	2.593000	0.87608	0.655000	0.94253	ATG		PASS	0.473	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		9	38	9	38	---	---	---	---
STON2	85439	broad.mit.edu	37	14	81744523	81744523	+	Missense_Mutation	SNP	G	G	A	rs377423149		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:81744523G>A	ENST00000267540.2	-	4	1332	c.1132C>T	c.(1132-1134)Cac>Tac	p.H378Y	STON2_ENST00000555447.1_Missense_Mutation_p.H378Y|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	378					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.H378Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCATCAGAGTGTGACTGGGTT	0.448																																						uc010tvu.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)	5						c.(1132-1134)CAC>TAC		stonin 2		G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		1132	6.2	1.0	14		95	0,8600		0,0,4300	no	missense	STON2	NM_033104.2	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	378/906	81744523	1,13005	2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744523G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1132C>T	14.37:g.81744523G>A	ENSP00000267540:p.His378Tyr					STON2_uc001xvk.1_Missense_Mutation_p.H378Y|STON2_uc010tvt.1_Missense_Mutation_p.H175Y	p.H378Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1333	-			378					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1132C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723876	0.30593	2.27E-4	0.0	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.12465	2.68;2.68	6.17	6.17	0.99709	.	0.175271	0.51477	D	0.000094	T	0.19967	0.0480	L	0.51422	1.61	0.30541	N	0.766403	B;P	0.34757	0.337;0.467	B;B	0.41036	0.188;0.346	T	0.11446	-1.0587	10	0.10377	T	0.69	-16.4734	20.8794	0.99867	0.0:0.0:1.0:0.0	.	378;378	Q8WXE9;G3V2T7	STON2_HUMAN;.	Y	378;390;378	ENSP00000450857:H378Y;ENSP00000267540:H378Y	ENSP00000267540:H378Y	H	-	1	0	STON2	80814276	1.000000	0.71417	0.993000	0.49108	0.912000	0.54170	4.048000	0.57390	2.941000	0.99782	0.655000	0.94253	CAC		PASS	0.448	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		25	51	25	51	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89181377	89181377	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:89181377G>A	ENST00000380664.5	-	9	1349	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	EML5_ENST00000352093.5_Silent_p.S450S|EML5_ENST00000554922.1_Silent_p.S450S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	450						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.S450S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGAAACTAAGGGATCCCAAAC	0.408																																						uc001xxg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1348-1350)TCC>TCT		echinoderm microtubule associated protein like							92.0	89.0	90.0					14																	89181377		1883	4103	5986	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89181377G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1350C>T	14.37:g.89181377G>A						EML5_uc001xxh.1_5'UTR	p.S450S	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			10	1536	-			450			WD 9.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.1350C>T	CCDS45148.1																																																																																				PASS	0.408	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			26	20	26	20	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89878376	89878376	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:89878376G>A	ENST00000345097.4	-	2	561	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.P149S|FOXN3_ENST00000557258.1_Missense_Mutation_p.P149S|FOXN3_ENST00000555353.1_Missense_Mutation_p.P149S|RP11-33N16.3_ENST00000555070.1_RNA	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	149					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P149S(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAAAATACGGAAAATGTTCC	0.438																																						uc001xxo.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(445-447)CCG>TCG		checkpoint suppressor 1 isoform 1							80.0	82.0	81.0					14																	89878376		2203	4300	6503	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878376G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.445C>T	14.37:g.89878376G>A	ENSP00000343288:p.Pro149Ser					FOXN3_uc001xxn.3_Missense_Mutation_p.P149S|FOXN3_uc010atk.2_Missense_Mutation_p.P149S|FOXN3_uc001xxp.2_Missense_Mutation_p.P149S	p.P149S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			2	582	-			149			Fork-head.		Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.445C>T	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818386	0.90790	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	4.99	4.99	0.66335	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.79784	0.993;0.776	D	0.98971	1.0801	10	0.87932	D	0	.	18.6365	0.91380	0.0:0.0:1.0:0.0	.	149;149	O00409;O00409-2	FOXN3_HUMAN;.	S	149	ENSP00000343288:P149S;ENSP00000261302:P149S;ENSP00000452005:P149S;ENSP00000452227:P149S;ENSP00000451135:P149S	ENSP00000261302:P149S	P	-	1	0	FOXN3	88948129	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.477000	0.83638	0.455000	0.32223	CCG		PASS	0.438	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		33	51	33	51	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93676181	93676181	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:93676181G>A	ENST00000013070.6	+	2	398	c.162G>A	c.(160-162)aaG>aaA	p.K54K	C14orf142_ENST00000306954.4_5'Flank|UBR7_ENST00000416753.1_Intron|RP11-371E8.4_ENST00000557048.1_3'UTR|RP11-371E8.4_ENST00000557574.1_Silent_p.K73K	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	54							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K54K(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCTCAGTAAAGAGACAAGCAC	0.403																																						uc001ybm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(160-162)AAG>AAA		ubiquitin protein ligase E3 component n-recognin							71.0	67.0	69.0					14																	93676181		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93676181G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.162G>A	14.37:g.93676181G>A						C14orf142_uc001ybl.1_5'Flank|UBR7_uc001ybn.3_Intron|UBR7_uc010auq.2_5'UTR	p.K54K	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			2	398	+			54			UBR-type.		Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.162G>A	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	9.403	1.078616	0.20227	.	.	ENSG00000012963	ENST00000555113	.	.	.	5.0	3.89	0.44902	.	.	.	.	.	T	0.68760	0.3036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67910	-0.5548	4	.	.	.	-17.398	13.9743	0.64262	0.0883:0.0:0.9117:0.0	.	.	.	.	K	54	.	.	E	+	1	0	UBR7	92745934	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.578000	0.46051	2.315000	0.78130	0.549000	0.68633	GAG		PASS	0.403	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		5	18	5	18	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93708946	93708946	+	Silent	SNP	C	C	T	rs141130270	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:93708946C>T	ENST00000334746.5	-	11	3379	c.3072G>A	c.(3070-3072)ccG>ccA	p.P1024P	BTBD7_ENST00000554565.1_Silent_p.P673P|BTBD7_ENST00000393170.2_Silent_p.P598P	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1024					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)		p.P1024P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCAGGTGTATCGGCTCATTCT	0.522																																						uc001ybo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(3070-3072)CCG>CCA		BTB (POZ) domain containing 7 isoform 1							141.0	141.0	141.0					14																	93708946		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93708946C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3072G>A	14.37:g.93708946C>T						BTBD7_uc010aur.2_Silent_p.P549P|BTBD7_uc010two.1_Silent_p.P844P|BTBD7_uc001ybp.2_Silent_p.P673P	p.P1024P	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3398	-		all_cancers(154;0.08)	1024					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.3072G>A	CCDS32146.1																																																																																				PASS	0.522	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		60	63	60	63	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:94069764C>T	ENST00000393151.2	+	26	3754	c.3754C>T	c.(3754-3756)Cga>Tga	p.R1252*	UNC79_ENST00000553484.1_Splice_Site_p.P1252S|UNC79_ENST00000555664.1_Splice_Site_p.R1252*|UNC79_ENST00000256339.4_Splice_Site_p.R1075*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473																																						uc001ybv.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3223-3225)CCT>TCT		hypothetical protein LOC57578							81.0	78.0	79.0					14																	94069764		2203	4300	6503	SO:0001630	splice_region_variant	57578					integral to membrane		g.chr14:94069764C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3754+1C>T	14.37:g.94069764C>T						KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R1075*	p.P1075S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	23	3306	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3223C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.963080|9.963080	0.99305|0.99305	.|.	.|.	ENSG00000133958|ENSG00000133958	ENST00000553484;ENST00000393153|ENST00000256339;ENST00000555664;ENST00000393151	T|.	0.16897|.	2.31|.	6.04|6.04	5.16|5.16	0.70880|0.70880	.|.	.|0.284363	.|0.34725	.|N	.|0.003729	T|.	0.37348|.	0.1000|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	B|.	0.13145|.	0.007|.	B|.	0.12156|.	0.007|.	T|.	0.35649|.	-0.9780|.	7|.	0.15952|0.02654	T|T	0.53|1	.|.	15.3023|15.3023	0.73962|0.73962	0.0:0.9334:0.0:0.0666|0.0:0.9334:0.0:0.0666	.|.	1252|.	C9JQL1|.	.|.	S|X	1252|1075;1252;1252	ENSP00000451360:P1252S|.	ENSP00000376860:P1252S|ENSP00000256339:R1075X	P|R	+|+	1|1	0|2	KIAA1409|KIAA1409	93139517|93139517	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.971000|0.971000	0.66376|0.66376	7.545000|7.545000	0.82128|0.82128	1.576000|1.576000	0.49790|0.49790	0.563000|0.563000	0.77884|0.77884	CCT|CGA		PASS	0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	Nonsense_Mutation	7	30	7	30	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94088203	94088203	+	Missense_Mutation	SNP	C	C	T	rs141877928	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:94088203C>T	ENST00000393151.2	+	30	4624	c.4624C>T	c.(4624-4626)Cca>Tca	p.P1542S	UNC79_ENST00000553484.1_Missense_Mutation_p.P1564S|UNC79_ENST00000555664.1_Missense_Mutation_p.P1542S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1365S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1542					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1365S(1)|p.P1564S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGCACAAAGACCAAACGACCC	0.498													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4159-4161)CCA>TCA		hypothetical protein LOC57578		C	SER/PRO	5,4401	9.9+/-24.2	0,5,2198	88.0	81.0	84.0		4093	4.9	0.1	14	dbSNP_134	84	0,8600		0,0,4300	yes	missense	UNC79	NM_020818.3	74	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	1365/2459	94088203	5,13001	2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088203C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4624C>T	14.37:g.94088203C>T	ENSP00000376858:p.Pro1542Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.P1365S	p.P1387S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4242	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1542					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4159C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.005	-2.234114	0.00277	0.001135	0.0	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16073	2.38;2.37;2.38;2.38	5.74	4.86	0.63082	.	0.532246	0.21046	N	0.081098	T	0.06781	0.0173	N	0.03608	-0.345	0.23287	N	0.997972	B	0.02656	0.0	B	0.01281	0.0	T	0.34825	-0.9813	10	0.07813	T	0.8	-1.0259	10.5584	0.45131	0.0:0.7982:0.1321:0.0697	.	1564	C9JQL1	.	S	1365;1542;1564;1542;1564	ENSP00000256339:P1365S;ENSP00000450868:P1542S;ENSP00000451360:P1564S;ENSP00000376858:P1542S	ENSP00000256339:P1365S	P	+	1	0	KIAA1409	93157956	1.000000	0.71417	0.094000	0.20943	0.028000	0.11728	3.438000	0.52871	1.438000	0.47492	-0.194000	0.12790	CCA		PASS	0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	77	7	77	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95054239	95054239	+	Silent	SNP	G	G	A	rs146244413		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:95054239G>A	ENST00000554866.1	+	2	654	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000329597.7_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	180					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T180T(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGCAAACGAAGGGCAAGA	0.483																																						uc001ydm.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(538-540)ACG>ACA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						129.0	114.0	119.0					14																	95054239		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054239G>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.540G>A	14.37:g.95054239G>A						SERPINA5_uc010ave.2_Silent_p.T180T|SERPINA5_uc001ydn.1_Silent_p.T180T	p.T180T	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	750	+			180					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.540G>A	CCDS9928.1																																																																																				PASS	0.483	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		35	35	35	35	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95557423	95557423	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:95557423G>A	ENST00000526495.1	-	28	5842	c.5551C>T	c.(5551-5553)Cgt>Tgt	p.R1851C	DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.R1851C|DICER1_ENST00000556045.1_Missense_Mutation_p.R749C|DICER1_ENST00000541352.1_Silent_p.P1796P|DICER1_ENST00000527414.1_Missense_Mutation_p.R1851C|DICER1_ENST00000343455.3_Missense_Mutation_p.R1851C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1851	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.R1851C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAGGGGAACGGGGTACATTT	0.303			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5551-5553)CGT>TGT		dicer1							54.0	54.0	54.0					14																	95557423		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557423G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5551C>T	14.37:g.95557423G>A	ENSP00000437256:p.Arg1851Cys					DICER1_uc010avh.1_Missense_Mutation_p.R749C|DICER1_uc001ydv.2_Missense_Mutation_p.R1841C|DICER1_uc001ydx.2_Missense_Mutation_p.R1851C	p.R1851C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5733	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1851			DRBM.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5551C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253548	0.95336	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.93	5.93	0.95920	Double-stranded RNA-binding (2);Ribonuclease III (1);	0.051559	0.85682	D	0.000000	T	0.80914	0.4715	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.927;0.989	T	0.79841	-0.1633	9	0.49607	T	0.09	-19.7429	20.3465	0.98790	0.0:0.0:1.0:0.0	.	749;1851	B3KRG4;Q9UPY3	.;DICER_HUMAN	C	1851;1851;1851;1851;749	ENSP00000343745:R1851C;ENSP00000437256:R1851C;ENSP00000376783:R1851C;ENSP00000435681:R1851C;ENSP00000451041:R749C	ENSP00000343745:R1851C	R	-	1	0	DICER1	94627176	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.296000	0.96104	2.798000	0.96311	0.655000	0.94253	CGT		PASS	0.303	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			9	37	9	37	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95574758	95574758	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:95574758G>A	ENST00000526495.1	-	17	2630	c.2339C>T	c.(2338-2340)cCt>cTt	p.P780L	DICER1_ENST00000393063.1_Missense_Mutation_p.P780L|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000541352.1_Missense_Mutation_p.P780L|DICER1_ENST00000527414.1_Missense_Mutation_p.P780L|DICER1_ENST00000343455.3_Missense_Mutation_p.P780L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	780					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.P780L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATCAGGTAAAGGTGTAGTTAA	0.438			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(2338-2340)CCT>CTT		dicer1							156.0	143.0	148.0					14																	95574758		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95574758G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2339C>T	14.37:g.95574758G>A	ENSP00000437256:p.Pro780Leu					DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.P770L|DICER1_uc001ydx.2_Missense_Mutation_p.P780L	p.P780L	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	16	2521	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	780					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.2339C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089110	0.94100	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72516	-0.4269	10	0.48119	T	0.1	-21.2522	20.0965	0.97849	0.0:0.0:1.0:0.0	.	780	Q9UPY3	DICER_HUMAN	L	780	ENSP00000343745:P780L;ENSP00000437256:P780L;ENSP00000376783:P780L;ENSP00000435681:P780L;ENSP00000444719:P780L	ENSP00000343745:P780L	P	-	2	0	DICER1	94644511	1.000000	0.71417	0.193000	0.23327	0.985000	0.73830	9.525000	0.98039	2.824000	0.97209	0.655000	0.94253	CCT		PASS	0.438	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			29	45	29	45	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95669744	95669744	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:95669744C>T	ENST00000298912.4	-	9	2055	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	648					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E648K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACTGGTGTCTCTTCTGGGGCT	0.502																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1942-1944)GAG>AAG		calmin							87.0	81.0	83.0					14																	95669744		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669744C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1942G>A	14.37:g.95669744C>T	ENSP00000298912:p.Glu648Lys						p.E648K	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2058	-			648					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1942G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397233	0.62177	.	.	ENSG00000165959	ENST00000298912	D	0.94046	-3.34	4.33	3.41	0.39046	.	0.171367	0.28042	N	0.016829	D	0.92916	0.7746	M	0.63843	1.955	0.24328	N	0.995019	D	0.56521	0.976	P	0.49477	0.612	D	0.87040	0.2140	10	0.87932	D	0	.	11.3544	0.49607	0.0:0.8159:0.1841:0.0	.	648	Q96JQ2	CLMN_HUMAN	K	648	ENSP00000298912:E648K	ENSP00000298912:E648K	E	-	1	0	CLMN	94739497	0.190000	0.23276	0.003000	0.11579	0.021000	0.10359	2.409000	0.44583	0.891000	0.36235	0.655000	0.94253	GAG		PASS	0.502	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			30	38	30	38	---	---	---	---
TCL1B	9623	broad.mit.edu	37	14	96157137	96157137	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:96157137C>T	ENST00000340722.7	+	2	278	c.227C>T	c.(226-228)tCc>tTc	p.S76F	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	76								p.S76F(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTACTCTCCTCCGGCCAGATG	0.577																																						uc001yez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)TCC>TTC		T-cell leukemia/lymphoma 1B							102.0	102.0	102.0					14																	96157137		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157137C>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.227C>T	14.37:g.96157137C>T	ENSP00000343223:p.Ser76Phe					TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Missense_Mutation_p.S76F	p.S76F	NM_004918	NP_004909	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	269	+		all_cancers(154;0.103)	76					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.227C>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020692	0.35606	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.31510	1.49	3.11	0.0624	0.14345	.	.	.	.	.	T	0.10551	0.0258	N	0.14661	0.345	0.09310	N	1	P	0.44309	0.832	B	0.33620	0.167	T	0.15150	-1.0447	9	0.08599	T	0.76	0.4774	3.8007	0.08757	0.4232:0.451:0.0:0.1258	.	76	O95988	TCL1B_HUMAN	F	76	ENSP00000343223:S76F	ENSP00000343223:S76F	S	+	2	0	TCL1B	95226890	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.392000	0.07314	-0.001000	0.14495	-0.521000	0.04368	TCC		PASS	0.577	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			4	35	4	35	---	---	---	---
BDKRB1	623	broad.mit.edu	37	14	96730835	96730835	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:96730835G>A	ENST00000216629.6	+	3	1422	c.816G>A	c.(814-816)ctG>ctA	p.L272L	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	272					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.L272L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TTGCCTTCCTGGAATTCTTAT	0.562																																						uc001yfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(814-816)CTG>CTA		bradykinin receptor B1							92.0	88.0	89.0					14																	96730835		2203	4300	6503	SO:0001819	synonymous_variant	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730835G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.816G>A	14.37:g.96730835G>A						BDKRB1_uc010avn.2_Intron	p.L272L	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1024	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	272			Helical; Name=6; (Potential).		A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	ENST00000216629.6	37	c.816G>A	CCDS9943.1																																																																																				PASS	0.562	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			24	25	24	25	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96813608	96813608	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:96813608G>A	ENST00000359933.4	-	2	1126	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	78					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S78F(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTGACAGGGAAATTGACTG	0.453																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(232-234)TCC>TTC		ATG2 autophagy related 2 homolog B							98.0	96.0	97.0					14																	96813608		1970	4175	6145	SO:0001583	missense	55102							g.chr14:96813608G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.233C>T	14.37:g.96813608G>A	ENSP00000353010:p.Ser78Phe						p.S78F	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	2	598	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	78					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.233C>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	33	5.283522	0.95489	.	.	ENSG00000066739	ENST00000359933	D	0.83755	-1.76	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000002	D	0.90021	0.6884	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90597	0.4541	10	0.72032	D	0.01	.	19.1422	0.93450	0.0:0.0:1.0:0.0	.	78	Q96BY7	ATG2B_HUMAN	F	78	ENSP00000353010:S78F	ENSP00000353010:S78F	S	-	2	0	ATG2B	95883361	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.869000	0.99810	2.530000	0.85305	0.561000	0.74099	TCC		PASS	0.453	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		20	11	20	11	---	---	---	---
CCNK	8812	broad.mit.edu	37	14	99968655	99968655	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:99968655C>T	ENST00000389879.5	+	7	810	c.687C>T	c.(685-687)ccC>ccT	p.P229P	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.P229P	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	229					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P229P(1)		NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCTCCAAACCCATGTATAGGA	0.483																																						uc001ygi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)CCC>CCT		cyclin K isoform 1							120.0	113.0	115.0					14																	99968655		1952	4145	6097	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99968655C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.687C>T	14.37:g.99968655C>T						CCNK_uc001ygg.3_Silent_p.P229P	p.P229P	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			7	817	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	229					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.687C>T	CCDS45160.1																																																																																				PASS	0.483	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			6	32	6	32	---	---	---	---
HHIPL1	84439	broad.mit.edu	37	14	100129338	100129338	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:100129338C>T	ENST00000330710.5	+	6	1726	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	543					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.S543F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACATCATCTCCTTCGGGGAG	0.607																																						uc010avs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1627-1629)TCC>TTC		HHIP-like protein 1 isoform a							102.0	85.0	90.0					14																	100129338		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100129338C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1628C>T	14.37:g.100129338C>T	ENSP00000330601:p.Ser543Phe					HHIPL1_uc001ygl.1_Missense_Mutation_p.S543F	p.S543F	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			6	1693	+		Melanoma(154;0.128)	543					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1628C>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738599	0.89573	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.14022	2.54;2.54	4.87	4.87	0.63330	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71167	-0.4672	10	0.87932	D	0	.	18.0427	0.89323	0.0:1.0:0.0:0.0	.	543;543	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	F	543	ENSP00000330601:S543F;ENSP00000349757:S543F	ENSP00000330601:S543F	S	+	2	0	HHIPL1	99199091	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.776000	0.85560	2.267000	0.75376	0.655000	0.94253	TCC		PASS	0.607	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		5	48	5	48	---	---	---	---
MIR494	574452	broad.mit.edu	37	14	101493169	101493169	+	RNA	SNP	G	G	A	rs201061298		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:101493169G>A	ENST00000349529.2	+	0	0				MIR380_ENST00000362112.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR329-1_ENST00000385028.1_RNA	NR_030174.1				microRNA 494																		TAATGAGGACGAAACACACCT	0.468																																						hsa-mir-329-1|MI0001725																			0					0										G		1,3135		0,1,1567	238.0	199.0	211.0			4.2	1.0	14		211	2,7162		0,2,3580	no	intergenic				0,3,5147	AA,AG,GG		0.0279,0.0319,0.0291			101493169	3,10297	1568	3582	5150			574408							g.chr14:101493169G>A			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493169G>A						MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank										+									RNA	SNP	ENST00000349529.2	37	c.48G>A																																																																																					PASS	0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		9	64	9	64	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102372829	102372829	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102372829C>T	ENST00000334743.5	+	10	1162	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.P372S|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.P403S|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.P372S|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.P372S|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.P427S	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	372					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P372S(1)|p.P427S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATCATGTTTCCTTCCTTGTA	0.413																																						uc001yko.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1114-1116)CCT>TCT		gamma isoform of regulatory subunit B56, protein							110.0	104.0	106.0					14																	102372829		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102372829C>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1114C>T	14.37:g.102372829C>T	ENSP00000333905:p.Pro372Ser					PPP2R5C_uc010txr.1_Missense_Mutation_p.P403S|PPP2R5C_uc001ykk.2_Missense_Mutation_p.P427S|PPP2R5C_uc010txt.1_Missense_Mutation_p.P362S|PPP2R5C_uc001ykn.2_Missense_Mutation_p.P372S|PPP2R5C_uc001ykp.2_Missense_Mutation_p.P372S|PPP2R5C_uc001ykq.2_Intron	p.P372S	NM_002719	NP_002710	Q13362	2A5G_HUMAN			10	1254	+			372					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1114C>T	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748254	0.49257	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.86;0.81	4.73	4.73	0.59995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.63428	1.95	0.80722	D	1	P;D;P;B;P	0.65815	0.928;0.995;0.941;0.105;0.674	B;D;P;B;P	0.64410	0.339;0.925;0.551;0.137;0.647	T	0.66578	-0.5888	10	0.48119	T	0.1	-12.9908	18.076	0.89427	0.0:1.0:0.0:0.0	.	403;372;372;372;427	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;2A5G_HUMAN;.;.	S	403;427;401;372;372;372;372	ENSP00000412324:P403S;ENSP00000329009:P427S;ENSP00000450931:P401S;ENSP00000262239:P372S;ENSP00000333905:P372S	ENSP00000329009:P427S	P	+	1	0	PPP2R5C	101442582	1.000000	0.71417	0.692000	0.30179	0.766000	0.43426	7.556000	0.82233	2.331000	0.79229	0.563000	0.77884	CCT		PASS	0.413	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		9	72	9	72	---	---	---	---
PPP2R5C	5527	broad.mit.edu	37	14	102375971	102375971	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102375971G>T	ENST00000334743.5	+	11	1245	c.1197G>T	c.(1195-1197)gaG>gaT	p.E399D	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E430D|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E399D|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E399D|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E454D	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	399					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.E454D(1)|p.E399D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTTCATGGAGATGAACCAAA	0.438																																						uc001yko.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1195-1197)GAG>GAT		gamma isoform of regulatory subunit B56, protein							143.0	137.0	139.0					14																	102375971		2203	4300	6503	SO:0001583	missense	5527				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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity	g.chr14:102375971G>T	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1197G>T	14.37:g.102375971G>T	ENSP00000333905:p.Glu399Asp					PPP2R5C_uc010txr.1_Missense_Mutation_p.E430D|PPP2R5C_uc001ykk.2_Missense_Mutation_p.E454D|PPP2R5C_uc001ykn.2_Missense_Mutation_p.E399D|PPP2R5C_uc001ykp.2_Missense_Mutation_p.E399D|PPP2R5C_uc001ykq.2_Missense_Mutation_p.D255Y	p.E399D	NM_002719	NP_002710	Q13362	2A5G_HUMAN			11	1337	+			399					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1197G>T	CCDS9964.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.78|19.78|19.78	3.891043|3.891043|3.891043	0.72524|0.72524|0.72524	.|.|.	.|.|.	ENSG00000078304|ENSG00000078304|ENSG00000078304	ENST00000334756|ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743|ENST00000555237	.|T;T;T;T;T|.	.|0.52754|.	.|0.66;0.68;0.65;0.71;0.66|.	5.25|5.25|5.25	1.42|1.42|1.42	0.22433|0.22433|0.22433	.|Armadillo-type fold (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.56863|0.56863|0.56863	0.2014|0.2014|0.2014	L|L|L	0.52364|0.52364|0.52364	1.645|1.645|1.645	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	P|B;D;P;B;B|.	0.38078|0.56035|.	0.617|0.057;0.974;0.599;0.004;0.013|.	B|B;D;B;B;B|.	0.29440|0.74348|.	0.102|0.059;0.983;0.366;0.024;0.074|.	T|T|T	0.47586|0.47586|0.47586	-0.9106|-0.9106|-0.9106	8|10|5	0.87932|0.34782|.	D|T|.	0|0.22|.	-21.1645|-21.1645|-21.1645	9.7802|9.7802|9.7802	0.40643|0.40643|0.40643	0.2749:0.0:0.7251:0.0|0.2749:0.0:0.7251:0.0|0.2749:0.0:0.7251:0.0	.|.|.	255|430;399;399;399;454|.	E9PHN5|F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33|.	.|.;.;2A5G_HUMAN;.;.|.	Y|D|I	255|430;454;428;399;399;399|24	.|ENSP00000412324:E430D;ENSP00000329009:E454D;ENSP00000450931:E428D;ENSP00000262239:E399D;ENSP00000333905:E399D|.	ENSP00000334891:D255Y|ENSP00000329009:E454D|.	D|E|R	+|+|+	1|3|2	0|2|0	PPP2R5C|PPP2R5C|PPP2R5C	101445724|101445724|101445724	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	2.790000|2.790000|2.790000	0.47821|0.47821|0.47821	-0.013000|-0.013000|-0.013000	0.14199|0.14199|0.14199	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	GAT|GAG|AGA		PASS	0.438	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		12	73	12	73	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102442056	102442056	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102442056C>T	ENST00000360184.4	+	2	428	c.264C>T	c.(262-264)gtC>gtT	p.V88V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	88	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.V88V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TAGAGGACGTCGGTGATGAAG	0.303																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(262-264)GTC>GTT		cytoplasmic dynein 1 heavy chain 1							68.0	73.0	71.0					14																	102442056		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102442056C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.264C>T	14.37:g.102442056C>T							p.V88V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			2	428	+			88			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.264C>T	CCDS9966.1																																																																																				PASS	0.303	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		26	28	26	28	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102476637	102476637	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102476637C>T	ENST00000360184.4	+	31	6410	c.6246C>T	c.(6244-6246)tcC>tcT	p.S2082S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2082	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.S2082S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGCTCTCTTCCCAAAGCCATT	0.413																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6244-6246)TCC>TCT		cytoplasmic dynein 1 heavy chain 1							78.0	83.0	81.0					14																	102476637		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476637C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6246C>T	14.37:g.102476637C>T							p.S2082S	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			31	6410	+			2082			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.6246C>T	CCDS9966.1																																																																																				PASS	0.413	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		25	31	25	31	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102505342	102505342	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102505342A>T	ENST00000360184.4	+	60	11375	c.11211A>T	c.(11209-11211)gaA>gaT	p.E3737D	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3737	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E3737D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTAAGGGGAATTTCAGCTCC	0.428																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(11209-11211)GAA>GAT		cytoplasmic dynein 1 heavy chain 1							96.0	99.0	98.0					14																	102505342		2202	4300	6502	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102505342A>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11211A>T	14.37:g.102505342A>T	ENSP00000348965:p.Glu3737Asp						p.E3737D	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			60	11375	+			3737			Potential.|AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11211A>T	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.803831|4.803831	0.90623|0.90623	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.67865|.	-0.29|.	5.69|5.69	-5.31|-5.31	0.02730|0.02730	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70996|0.70996	0.3288|0.3288	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.75345|0.75345	-0.3350|-0.3350	10|5	0.35671|.	T|.	0.21|.	.|.	15.7362|15.7362	0.77846|0.77846	0.8501:0.0:0.1499:0.0|0.8501:0.0:0.1499:0.0	.|.	3737|.	Q14204|.	DYHC1_HUMAN|.	D|F	3737|164	ENSP00000348965:E3737D|.	ENSP00000348965:E3737D|.	E|I	+|+	3|1	2|0	DYNC1H1|DYNC1H1	101575095|101575095	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.975000|0.975000	0.68041|0.68041	0.779000|0.779000	0.26746|0.26746	-0.821000|-0.821000	0.04312|0.04312	0.459000|0.459000	0.35465|0.35465	GAA|ATT		PASS	0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	37	38	37	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102931580	102931580	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:102931580C>T	ENST00000359520.7	+	17	3969	c.3743C>T	c.(3742-3744)cCc>cTc	p.P1248L	TECPR2_ENST00000558678.1_Missense_Mutation_p.P1248L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1248					autophagy (GO:0006914)|cell death (GO:0008219)			p.P1248L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCTCTCAATCCCAGTCTCATG	0.493																																						uc001ylw.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(3742-3744)CCC>CTC		tectonin beta-propeller repeat containing 2							134.0	120.0	125.0					14																	102931580		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102931580C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3743C>T	14.37:g.102931580C>T	ENSP00000352510:p.Pro1248Leu					TECPR2_uc010awl.2_Missense_Mutation_p.P1248L|TECPR2_uc010txx.1_Missense_Mutation_p.P411L	p.P1248L	NM_014844	NP_055659	O15040	TCPR2_HUMAN			17	3891	+			1248			TECPR 4.		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.3743C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107503	0.94292	.	.	ENSG00000196663	ENST00000359520	T	0.80994	-1.44	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83936	0.5362	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.81914	0.993;0.935;0.995	D	0.85642	0.1277	10	0.62326	D	0.03	.	19.9225	0.97093	0.0:1.0:0.0:0.0	.	431;1248;1248	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	L	1248	ENSP00000352510:P1248L	ENSP00000352510:P1248L	P	+	2	0	TECPR2	102001333	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.825000	0.75293	2.780000	0.95670	0.655000	0.94253	CCC		PASS	0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		19	33	19	33	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104206338	104206338	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:104206338G>A	ENST00000202556.9	-	12	2697	c.2415C>T	c.(2413-2415)atC>atT	p.I805I	PPP1R13B_ENST00000423488.2_Silent_p.I224I|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	805	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I805I(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TTTGGGGACAGATGAGCTCCT	0.622																																						uc001yof.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2413-2415)ATC>ATT		apoptosis-stimulating protein of p53, 1							47.0	54.0	52.0					14																	104206338		2026	4191	6217	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206338G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2415C>T	14.37:g.104206338G>A						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.I672I	p.I805I	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2698	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	805			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2415C>T	CCDS41997.1																																																																																				PASS	0.622	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		19	24	19	24	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405869	105405870	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105405869_105405870GG>AA	ENST00000333244.5	-	7	16037_16038	c.15918_15919CC>TT	c.(15916-15921)ctCCct>ctTTct	p.P5307S	AHNAK2_ENST00000557457.1_Missense_Mutation_p.P305S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5307						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.P5307S(2)|p.P277S(2)|p.L5306L(1)|p.L276L(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)			ATCTGAAAAGGGAGAGGTCCTT	0.525																																						uc010axc.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(15919-15921)CCT>TCT|c.(15916-15918)CTC>CTT		AHNAK nucleoprotein 2																																				SO:0001583	missense	113146					nucleus		g.chr14:105405869G>A|g.chr14:105405870G>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.15918_15919delinsAA	14.37:g.105405869_105405870delinsAA	ENSP00000353114:p.Pro5307Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.P5207S|AHNAK2_uc001ypx.2_Silent_p.L5206L	p.P5307S|p.L5306L	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	16039|16038	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5307|5306					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation|Silent	SNP	ENST00000333244.5	37	c.15919C>T|c.15918C>T	CCDS45177.1																																																																																				PASS	0.525	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		23	19|20	23	19	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408689	105408689	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105408689G>A	ENST00000333244.5	-	7	13218	c.13099C>T	c.(13099-13101)Cca>Tca	p.P4367S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4367						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.P4367S(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)			GGGCCCTCTGGGAGTTTCACA	0.617																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13099-13101)CCA>TCA		AHNAK nucleoprotein 2							91.0	96.0	94.0					14																	105408689		1910	4137	6047	SO:0001583	missense	113146					nucleus		g.chr14:105408689G>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.13099C>T	14.37:g.105408689G>A	ENSP00000353114:p.Pro4367Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.P4267S	p.P4367S	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	13219	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4367					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13099C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.721934	0.30503	.	.	ENSG00000185567	ENST00000333244	T	0.03242	4.0	3.24	1.23	0.21249	.	1.391700	0.05796	U	0.611181	T	0.17662	0.0424	M	0.89658	3.05	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.39742	-0.9599	10	0.10636	T	0.68	.	5.126	0.14884	0.192:0.0:0.6441:0.1639	.	4367	Q8IVF2	AHNK2_HUMAN	S	4367	ENSP00000353114:P4367S	ENSP00000353114:P4367S	P	-	1	0	AHNAK2	104479734	0.471000	0.25862	0.000000	0.03702	0.005000	0.04900	2.076000	0.41548	-0.080000	0.12685	0.306000	0.20318	CCA		PASS	0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		57	51	57	51	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105411071	105411071	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105411071C>T	ENST00000333244.5	-	7	10836	c.10717G>A	c.(10717-10719)Ggc>Agc	p.G3573S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3573						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.G3573S(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)			ATCTGGGGGCCCTTGAGGTCC	0.622																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10717-10719)GGC>AGC		AHNAK nucleoprotein 2							96.0	110.0	106.0					14																	105411071		1854	4084	5938	SO:0001583	missense	113146					nucleus		g.chr14:105411071C>T	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.10717G>A	14.37:g.105411071C>T	ENSP00000353114:p.Gly3573Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.G3473S	p.G3573S	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	10837	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3573					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10717G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	5.626	0.300240	0.10678	.	.	ENSG00000185567	ENST00000333244	T	0.05996	3.36	3.24	3.24	0.37175	.	0.829109	0.09590	U	0.781688	T	0.14356	0.0347	M	0.77712	2.385	0.09310	N	1	D	0.54207	0.965	P	0.50049	0.629	T	0.14896	-1.0456	10	0.13108	T	0.6	.	10.9382	0.47257	0.0:0.807:0.193:0.0	.	3573	Q8IVF2	AHNK2_HUMAN	S	3573	ENSP00000353114:G3573S	ENSP00000353114:G3573S	G	-	1	0	AHNAK2	104482116	0.000000	0.05858	0.012000	0.15200	0.005000	0.04900	0.219000	0.17641	1.761000	0.52028	0.205000	0.17691	GGC		PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		24	134	24	134	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105412215	105412215	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105412215G>A	ENST00000333244.5	-	7	9692	c.9573C>T	c.(9571-9573)atC>atT	p.I3191I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3191						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.I3191I(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)			GCTCAATGCTGATGTCAGTGT	0.627																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(9571-9573)ATC>ATT		AHNAK nucleoprotein 2							122.0	84.0	97.0					14																	105412215		1958	3938	5896	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412215G>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.9573C>T	14.37:g.105412215G>A						AHNAK2_uc001ypx.2_Silent_p.I3091I	p.I3191I	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	9693	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3191					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9573C>T	CCDS45177.1																																																																																				PASS	0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		30	20	30	20	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416597	105416597	+	Missense_Mutation	SNP	G	G	A	rs577393712	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105416597G>A	ENST00000333244.5	-	7	5310	c.5191C>T	c.(5191-5193)Ctt>Ttt	p.L1731F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1731						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.L1731F(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)			CCCTCGGGAAGGGGGCCCTCC	0.632																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5191-5193)CTT>TTT		AHNAK nucleoprotein 2							87.0	100.0	96.0					14																	105416597		1809	4037	5846	SO:0001583	missense	113146					nucleus		g.chr14:105416597G>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.5191C>T	14.37:g.105416597G>A	ENSP00000353114:p.Leu1731Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.L1631F	p.L1731F	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	5311	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1731					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5191C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	8.920	0.960932	0.18583	.	.	ENSG00000185567	ENST00000333244	T	0.00792	5.69	2.67	-4.53	0.03462	.	.	.	.	.	T	0.01320	0.0043	L	0.41961	1.31	0.09310	N	1	P	0.51791	0.948	P	0.54270	0.747	T	0.23226	-1.0194	9	0.49607	T	0.09	-16.2736	5.9312	0.19140	0.0:0.3042:0.4272:0.2686	.	1731	Q8IVF2	AHNK2_HUMAN	F	1731	ENSP00000353114:L1731F	ENSP00000353114:L1731F	L	-	1	0	AHNAK2	104487642	0.061000	0.20836	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-1.126000	0.02929	-1.414000	0.01117	CTT		PASS	0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		81	69	81	69	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420408	105420408	+	Silent	SNP	G	G	A	rs369745262		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:105420408G>A	ENST00000333244.5	-	7	1499	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	460						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.I460I(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)			TGGCGATCCCGATTTCCAGGC	0.572																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1378-1380)ATC>ATT		AHNAK nucleoprotein 2		G		0,4036		0,0,2018	50.0	54.0	53.0		1380	-10.2	0.0	14		53	1,8357		0,1,4178	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6196	AA,AG,GG		0.012,0.0,0.0081		460/5796	105420408	1,12393	2018	4179	6197	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420408G>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.1380C>T	14.37:g.105420408G>A						AHNAK2_uc001ypx.2_Silent_p.I360I	p.I460I	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	1500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	460					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1380C>T	CCDS45177.1																																																																																				PASS	0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		19	23	19	23	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091377	106091377	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106091377C>T	ENST00000390543.2	-	0	516							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AACTGCTCCTCCCGCGGCTTT	0.592																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							243.0	296.0	278.0					14																	106091377		2193	4283	6476			8755							g.chr14:106091377C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091377C>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron								3647		-									RNA	SNP	ENST00000390543.2	37	c.62131G>A																																																																																					PASS	0.592	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		21	219	21	219	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106321812	106321812	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106321812G>A	ENST00000390559.2	-	0	421				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.4_ENST00000581720.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.1_ENST00000581354.1_RNA|AL122127.5_ENST00000582202.1_RNA			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)										AATCTGCCGGGGACTGAAACC	0.662																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							36.0	37.0	37.0					14																	106321812		2090	4201	6291			8755							g.chr14:106321812G>A	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.106321812G>A						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								3599		-								P20769	RNA	SNP	ENST00000390559.2	37	c.55584C>T																																																																																					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		9	8	9	8	---	---	---	---
IGHV6-1	28385	broad.mit.edu	37	14	106406009	106406009	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106406009C>T	ENST00000390593.2	-	0	99									immunoglobulin heavy variable 6-1																		GACACTGACCCCATGGGAGGC	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							57.0	61.0	60.0					14																	106406009		2010	4168	6178			8755							g.chr14:106406009C>T	X92224		14q32.33	2012-02-08			ENSG00000211933	ENSG00000211933		"""Immunoglobulins / IGH locus"""	5662	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152324		14.37:g.106406009C>T														2357		-									RNA	SNP	ENST00000390593.2	37	c.42138G>A																																																																																					PASS	0.552	IGHV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325886.1	NG_001019		12	11	12	11	---	---	---	---
IGHV3-13	28449	broad.mit.edu	37	14	106586560	106586560	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106586560G>A	ENST00000390602.2	-	0	107									immunoglobulin heavy variable 3-13																		ATAGCAACAAGGAAAACCCAG	0.468																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							159.0	152.0	154.0					14																	106586560		1902	4116	6018			8755							g.chr14:106586560G>A	X92217		14q32.33	2012-02-08			ENSG00000211942	ENSG00000211942		"""Immunoglobulins / IGH locus"""	5581	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152295		14.37:g.106586560G>A						uc001ysv.2_Intron								1284		-									RNA	SNP	ENST00000390602.2	37	c.27758C>T																																																																																					PASS	0.468	IGHV3-13-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325683.1	NG_001019		23	133	23	133	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641581	106641581	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106641581G>A	ENST00000390605.2	-	0	391									immunoglobulin heavy variable 1-18																		AGTAATACACGGCCGTGTCGT	0.537																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							191.0	183.0	186.0					14																	106641581		2080	4194	6274			8755							g.chr14:106641581G>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641581G>A														1021		-									RNA	SNP	ENST00000390605.2	37	c.24420C>T																																																																																					PASS	0.537	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		91	80	91	80	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725383	106725383	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106725383G>A	ENST00000390609.2	-	0	247									immunoglobulin heavy variable 3-23																		GGAGCCTGGCGGACCCAGCTC	0.597																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							152.0	198.0	183.0					14																	106725383		2092	4237	6329			8755							g.chr14:106725383G>A	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725383G>A														588		-									RNA	SNP	ENST00000390609.2	37	c.18164C>T																																																																																					PASS	0.597	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		79	218	79	218	---	---	---	---
IGHV4-31	28396	broad.mit.edu	37	14	106805452	106805452	+	RNA	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:106805452C>G	ENST00000438142.2	-	0	182									immunoglobulin heavy variable 4-31																		AGGTGAGGGACAGGGTCTGTG	0.617																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							89.0	125.0	113.0					14																	106805452		1950	4139	6089			8755							g.chr14:106805452C>G	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805452C>G						uc001ysw.1_5'Flank								360		-									RNA	SNP	ENST00000438142.2	37	c.13756G>C																																																																																					PASS	0.617	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		8	105	8	105	---	---	---	---
IGHV7-81	28378	broad.mit.edu	37	14	107282958	107282958	+	RNA	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr14:107282958T>C	ENST00000390639.2	-	0	238									immunoglobulin heavy variable 7-81 (non-functional)																		CTCAAGCCCTTGTCCAGGGGC	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							136.0	142.0	140.0					14																	107282958		1953	4146	6099			8755							g.chr14:107282958T>C	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107282958T>C						uc001ytb.1_Missense_Mutation_p.Q62R								2		-									RNA	SNP	ENST00000390639.2	37	c.108A>G																																																																																					PASS	0.557	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		20	137	20	137	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20644853	20644853	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:20644853C>T	ENST00000428453.1	-	0	3094							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R802K(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						GTCCCTCGCCCTTTCGGTCTT	0.453																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(2404-2406)AGG>AAG		RecName: Full=Putative HERC2-like protein 3;							112.0	60.0	78.0					15																	20644853		1509	2699	4208			0							g.chr15:20644853C>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.20644853C>T						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.R802K|uc010tyy.1_Missense_Mutation_p.R802K	p.R802K							21	3114	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2405G>A																																																																																					PASS	0.453	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	44	6	44	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20649560	20649560	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:20649560C>T	ENST00000428453.1	-	0	2638							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.G650E(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						GTCGTAATTTCCTTCTTTCCC	0.592																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(1948-1950)GGA>GAA		RecName: Full=Putative HERC2-like protein 3;							181.0	149.0	160.0					15																	20649560		2190	4275	6465			0							g.chr15:20649560C>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.20649560C>T						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.G650E|uc010tyy.1_Missense_Mutation_p.G650E	p.G650E							18	2658	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.1949G>A																																																																																					PASS	0.592	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		25	113	25	113	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22955156	22955156	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:22955156C>T	ENST00000313077.7	+	15	1675	c.1550C>T	c.(1549-1551)aCc>aTc	p.T517I	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Missense_Mutation_p.T517I	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.T517I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCAGGAAGACCGTGTGTGAC	0.607																																						uc001yus.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(1549-1551)ACC>ATC		cytoplasmic FMR1 interacting protein 1 isoform							81.0	77.0	78.0					15																	22955156		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22955156C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1550C>T	15.37:g.22955156C>T	ENSP00000324549:p.Thr517Ile					CYFIP1_uc001yut.2_Missense_Mutation_p.T517I|CYFIP1_uc010aya.1_Missense_Mutation_p.T545I|CYFIP1_uc001yuu.2_5'Flank	p.T517I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	15	1654	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	517						Missense_Mutation	SNP	ENST00000313077.7	37	c.1550C>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029836	0.93575	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.42513	0.97	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000003	T	0.58061	0.2096	L	0.58969	1.84	0.80722	D	1	D;P	0.76494	0.999;0.927	D;P	0.83275	0.996;0.759	T	0.52601	-0.8554	10	0.06891	T	0.86	-29.3734	18.5503	0.91062	0.0:1.0:0.0:0.0	.	545;517	E7EQ04;Q7L576	.;CYFP1_HUMAN	I	517;545	ENSP00000324549:T517I	ENSP00000324549:T517I	T	+	2	0	CYFIP1	20506597	1.000000	0.71417	0.965000	0.40720	0.990000	0.78478	7.645000	0.83430	2.370000	0.80446	0.561000	0.74099	ACC		PASS	0.607	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		19	30	19	30	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811263	23811263	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:23811263G>A	ENST00000314520.3	+	1	810	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	112					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G112R(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGCAAGGAGGGGGAGAACTG	0.597																																						uc001ywh.3																			1	Substitution - Missense(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(334-336)GGG>AGG		makorin ring finger protein 3							62.0	63.0	62.0					15																	23811263		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811263G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.334G>A	15.37:g.23811263G>A	ENSP00000313881:p.Gly112Arg					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G112R	p.G112R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	810	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	112			C3H1-type 1.			Missense_Mutation	SNP	ENST00000314520.3	37	c.334G>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848118	0.91277	.	.	ENSG00000179455	ENST00000314520	T	0.59502	0.26	3.83	3.83	0.44106	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	L	0.61036	1.89	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.72865	-0.4163	10	0.87932	D	0	.	11.5488	0.50708	0.0:0.0:1.0:0.0	.	112	Q13064	MKRN3_HUMAN	R	112	ENSP00000313881:G112R	ENSP00000313881:G112R	G	+	1	0	MKRN3	21362356	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.533000	0.67160	2.427000	0.82271	0.563000	0.77884	GGG		PASS	0.597	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		15	29	15	29	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890071	23890071	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:23890071G>A	ENST00000532292.1	-	1	1104	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.P369S(1)|p.P337L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGGCCACGGGGGGTGTTTGG	0.657																																						uc001ywj.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1009-1011)CCC>CTC		MAGE-like protein 2							41.0	45.0	44.0					15																	23890071		1887	4107	5994	SO:0001583	missense	54551							g.chr15:23890071G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1010C>T	15.37:g.23890071G>A	ENSP00000433433:p.Pro337Leu						p.P337L	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1105	-		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)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1010C>T		.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126292	0.06795	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	2.05	0.26809	.	.	.	.	.	T	0.19046	0.0457	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.29610	-1.0006	6	0.02654	T	1	.	5.4373	0.16488	0.1101:0.2055:0.6844:0.0	.	.	.	.	S	369	.	ENSP00000433433:P369S	P	-	1	0	MAGEL2	21441164	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-0.112000	0.10791	0.623000	0.30267	0.655000	0.94253	CCC		PASS	0.657	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		16	21	16	21	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921171	24921171	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24921171C>T	ENST00000329468.2	+	1	631	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	53					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R53R(1)|p.R53W(1)									CCTGTTCCGCCGGAACGCCCG	0.756																																						uc001ywo.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(157-159)CGG>TGG		hypothetical protein LOC23742							13.0	17.0	16.0					15																	24921171		2160	4205	6365	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921171C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.157C>T	15.37:g.24921171C>T	ENSP00000333735:p.Arg53Trp						p.R53W	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	631	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	53						Missense_Mutation	SNP	ENST00000329468.2	37	c.157C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.00	2.405390	0.42715	.	.	ENSG00000185823	ENST00000329468	T	0.09723	2.95	1.98	-3.96	0.04106	.	2.953330	0.01549	N	0.019584	T	0.06234	0.0161	N	0.22421	0.69	0.09310	N	1	B	0.21452	0.056	B	0.06405	0.002	T	0.23190	-1.0195	10	0.38643	T	0.18	.	0.3194	0.00301	0.195:0.2496:0.194:0.3614	.	53	Q9NZP6	CO002_HUMAN	W	53	ENSP00000333735:R53W	ENSP00000333735:R53W	R	+	1	2	C15orf2	22472264	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.214000	0.17541	-1.188000	0.02705	-0.350000	0.07774	CGG		PASS	0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		4	9	4	9	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921212	24921212	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24921212C>T	ENST00000329468.2	+	1	672	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V66V(2)									GCATCTTCGTCGCCCCTAAGA	0.721																																						uc001ywo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(196-198)GTC>GTT		hypothetical protein LOC23742							18.0	22.0	20.0					15																	24921212		2194	4279	6473	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921212C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.198C>T	15.37:g.24921212C>T							p.V66V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	672	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	66						Silent	SNP	ENST00000329468.2	37	c.198C>T	CCDS10015.1																																																																																				PASS	0.721	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	10	5	10	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921772	24921772	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24921772G>A	ENST00000329468.2	+	1	1232	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	253			G -> R (in dbSNP:rs1563102). {ECO:0000269|PubMed:10783265}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G253E(1)									CGGCATCTTGGAAAGCCTGAT	0.637																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(757-759)GGA>GAA		hypothetical protein LOC23742							33.0	36.0	35.0					15																	24921772		2202	4299	6501	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921772G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.758G>A	15.37:g.24921772G>A	ENSP00000333735:p.Gly253Glu						p.G253E	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1232	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	253						Missense_Mutation	SNP	ENST00000329468.2	37	c.758G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.033049	0.35893	.	.	ENSG00000185823	ENST00000329468	T	0.10960	2.82	2.07	-3.18	0.05186	.	.	.	.	.	T	0.11879	0.0289	L	0.39898	1.24	0.09310	N	1	D	0.67145	0.996	D	0.65684	0.937	T	0.17107	-1.0380	9	0.07644	T	0.81	.	0.2266	0.00174	0.3058:0.2061:0.2798:0.2083	.	253	Q9NZP6	CO002_HUMAN	E	253	ENSP00000333735:G253E	ENSP00000333735:G253E	G	+	2	0	C15orf2	22472865	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.813000	0.04491	-0.848000	0.04163	0.436000	0.28706	GGA		PASS	0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	27	5	27	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921840	24921840	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24921840T>C	ENST00000329468.2	+	1	1300	c.826T>C	c.(826-828)Ttg>Ctg	p.L276L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	276					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L276L(1)									GCAGCAGAAGTTGGCTGCGGA	0.612																																						uc001ywo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(826-828)TTG>CTG		hypothetical protein LOC23742							37.0	40.0	39.0					15																	24921840		2202	4299	6501	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921840T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.826T>C	15.37:g.24921840T>C							p.L276L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1300	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	276						Silent	SNP	ENST00000329468.2	37	c.826T>C	CCDS10015.1																																																																																				PASS	0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		9	22	9	22	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24922790	24922790	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24922790C>T	ENST00000329468.2	+	1	2250	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	592					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S592S(1)									TCACATCTTCCCTAAGCTCCA	0.488																																						uc001ywo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1774-1776)TCC>TCT		hypothetical protein LOC23742							91.0	93.0	92.0					15																	24922790		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922790C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1776C>T	15.37:g.24922790C>T							p.S592S	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2250	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	592						Silent	SNP	ENST00000329468.2	37	c.1776C>T	CCDS10015.1																																																																																				PASS	0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		19	32	19	32	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24923080	24923080	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:24923080C>T	ENST00000329468.2	+	1	2540	c.2066C>T	c.(2065-2067)tCa>tTa	p.S689L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	689					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S689L(1)									TCTACAGCATCATCATCCAAA	0.512																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2065-2067)TCA>TTA		hypothetical protein LOC23742							203.0	181.0	188.0					15																	24923080		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923080C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2066C>T	15.37:g.24923080C>T	ENSP00000333735:p.Ser689Leu						p.S689L	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2540	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	689						Missense_Mutation	SNP	ENST00000329468.2	37	c.2066C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.073179	0.36566	.	.	ENSG00000185823	ENST00000329468	T	0.06371	3.31	2.32	1.38	0.22167	.	4.838640	0.00786	N	0.001316	T	0.15739	0.0379	L	0.42245	1.32	0.09310	N	1	D	0.71674	0.998	D	0.63192	0.912	T	0.09975	-1.0650	10	0.54805	T	0.06	.	4.7072	0.12855	0.0:0.8107:0.0:0.1893	.	689	Q9NZP6	CO002_HUMAN	L	689	ENSP00000333735:S689L	ENSP00000333735:S689L	S	+	2	0	C15orf2	22474173	0.001000	0.12720	0.001000	0.08648	0.166000	0.22503	0.656000	0.24948	0.526000	0.28541	0.205000	0.17691	TCA		PASS	0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	90	15	90	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25925106	25925106	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:25925106G>A	ENST00000356865.6	-	21	3993	c.3882C>T	c.(3880-3882)tcC>tcT	p.S1294S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1294					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1294S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCCTGGAGGGATCTGAAAA	0.483																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3880-3882)TCC>TCT		ATPase, class V, type 10A							54.0	60.0	58.0					15																	25925106		2202	4298	6500	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925106G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3882C>T	15.37:g.25925106G>A							p.S1294S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	3988	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1294			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3882C>T	CCDS32178.1																																																																																				PASS	0.483	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		18	73	18	73	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25972344	25972344	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:25972344C>T	ENST00000356865.6	-	4	921	c.810G>A	c.(808-810)agG>agA	p.R270R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	270					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R270R(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCCGTGTTCCTAAGGGTGC	0.582																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(808-810)AGG>AGA		ATPase, class V, type 10A							161.0	123.0	136.0					15																	25972344		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25972344C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.810G>A	15.37:g.25972344C>T							p.R270R	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	4	916	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	270			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.810G>A	CCDS32178.1																																																																																				PASS	0.582	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		14	31	14	31	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28386602	28386602	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:28386602G>A	ENST00000261609.7	-	78	12099	c.11991C>T	c.(11989-11991)ctC>ctT	p.L3997L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L3997L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCACAGCAAAGAGGGTCTGTT	0.522																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11989-11991)CTC>CTT		hect domain and RLD 2							82.0	74.0	77.0					15																	28386602		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386602G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11991C>T	15.37:g.28386602G>A							p.L3997L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	12097	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3997			RCC1 13.			Silent	SNP	ENST00000261609.7	37	c.11991C>T	CCDS10021.1																																																																																				PASS	0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	33	11	33	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28391399	28391399	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:28391399G>A	ENST00000261609.7	-	71	11100	c.10992C>T	c.(10990-10992)atC>atT	p.I3664I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.I3664I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCACGGAGACGATCCTGTTGA	0.562																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10990-10992)ATC>ATT		hect domain and RLD 2							150.0	103.0	119.0					15																	28391399		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28391399G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10992C>T	15.37:g.28391399G>A							p.I3664I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	71	11098	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3664						Silent	SNP	ENST00000261609.7	37	c.10992C>T	CCDS10021.1																																																																																				PASS	0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	24	11	24	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28413656	28413656	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:28413656G>A	ENST00000261609.7	-	67	10418	c.10310C>T	c.(10309-10311)tCc>tTc	p.S3437F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S3437F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGATGCGTCGGAAGGGGCCGC	0.577																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10309-10311)TCC>TTC		hect domain and RLD 2							63.0	66.0	65.0					15																	28413656		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413656G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10310C>T	15.37:g.28413656G>A	ENSP00000261609:p.Ser3437Phe						p.S3437F	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10416	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3437						Missense_Mutation	SNP	ENST00000261609.7	37	c.10310C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728533	0.48833	.	.	ENSG00000128731	ENST00000261609	T	0.41065	1.01	5.46	5.46	0.80206	.	0.061317	0.64402	D	0.000002	T	0.43787	0.1263	L	0.60455	1.87	0.58432	D	0.999992	B	0.29805	0.257	B	0.24541	0.054	T	0.42241	-0.9463	10	0.66056	D	0.02	.	19.6735	0.95921	0.0:0.0:1.0:0.0	.	3437	O95714	HERC2_HUMAN	F	3437	ENSP00000261609:S3437F	ENSP00000261609:S3437F	S	-	2	0	HERC2	26087251	1.000000	0.71417	0.423000	0.26634	0.067000	0.16453	7.585000	0.82584	2.724000	0.93272	0.491000	0.48974	TCC		PASS	0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		16	26	16	26	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28508279	28508279	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:28508279T>A	ENST00000261609.7	-	15	2015	c.1907A>T	c.(1906-1908)aAa>aTa	p.K636I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.K636I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTGCCCAATTTCCCATAGTC	0.408																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1906-1908)AAA>ATA		hect domain and RLD 2							134.0	117.0	122.0					15																	28508279		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28508279T>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1907A>T	15.37:g.28508279T>A	ENSP00000261609:p.Lys636Ile					HERC2_uc001zbl.1_Missense_Mutation_p.K331I	p.K636I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	15	2013	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	636			RCC1 3.			Missense_Mutation	SNP	ENST00000261609.7	37	c.1907A>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	33	5.194658	0.94960	.	.	ENSG00000128731	ENST00000261609	D	0.84944	-1.92	5.83	5.83	0.93111	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.047728	0.85682	D	0.000000	D	0.93354	0.7881	M	0.88450	2.955	0.80722	D	1	D	0.65815	0.995	D	0.71414	0.973	D	0.94441	0.7658	10	0.87932	D	0	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	636	O95714	HERC2_HUMAN	I	636	ENSP00000261609:K636I	ENSP00000261609:K636I	K	-	2	0	HERC2	26181874	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	8.031000	0.88826	2.231000	0.72958	0.460000	0.39030	AAA		PASS	0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	44	10	44	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346206	29346206	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:29346206G>A	ENST00000558402.1	+	5	718	c.119G>A	c.(118-120)gGc>gAc	p.G40D	APBA2_ENST00000411764.1_Missense_Mutation_p.G40D|APBA2_ENST00000561069.1_Missense_Mutation_p.G40D|APBA2_ENST00000558330.1_Missense_Mutation_p.G40D|APBA2_ENST00000558259.1_Missense_Mutation_p.G40D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	40					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G40D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCTTGGAGGGCTATGTGCCC	0.677																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GGC>GAC		amyloid beta A4 precursor protein-binding,							46.0	53.0	51.0					15																	29346206		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346206G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.119G>A	15.37:g.29346206G>A	ENSP00000453293:p.Gly40Asp					APBA2_uc010azj.2_Missense_Mutation_p.G40D|APBA2_uc010uat.1_Missense_Mutation_p.G40D|APBA2_uc001zcl.2_Missense_Mutation_p.G40D|APBA2_uc010uas.1_Missense_Mutation_p.G40D	p.G40D	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	326	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	40					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.119G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	0.885	-0.727445	0.03158	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.36878	1.23	5.06	1.76	0.24704	.	0.782790	0.11840	N	0.524328	T	0.14056	0.0340	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31724	-0.9933	10	0.09084	T	0.74	.	3.3464	0.07137	0.4494:0.2446:0.306:0.0	.	40;40;40	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	D	40	ENSP00000409312:G40D	ENSP00000219865:G40D	G	+	2	0	APBA2	27133498	0.452000	0.25713	0.559000	0.28332	0.135000	0.20990	0.893000	0.28336	0.374000	0.24650	-0.219000	0.12488	GGC		PASS	0.677	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		7	21	7	21	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346759	29346759	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:29346759G>A	ENST00000558402.1	+	5	1271	c.672G>A	c.(670-672)gaG>gaA	p.E224E	APBA2_ENST00000411764.1_Silent_p.E224E|APBA2_ENST00000561069.1_Silent_p.E224E|APBA2_ENST00000558330.1_Silent_p.E224E|APBA2_ENST00000558259.1_Silent_p.E224E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	224	STXBP1-binding.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.E224E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACCAGGAGGAGGACATTGACC	0.652																																						uc001zck.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)GAG>GAA		amyloid beta A4 precursor protein-binding,							59.0	43.0	49.0					15																	29346759		2203	4299	6502	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346759G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.672G>A	15.37:g.29346759G>A						APBA2_uc010azj.2_Silent_p.E224E|APBA2_uc010uat.1_Silent_p.E224E|APBA2_uc001zcl.2_Silent_p.E224E|APBA2_uc010uas.1_Silent_p.E224E	p.E224E	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	879	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	224			STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.672G>A	CCDS10022.1																																																																																				PASS	0.652	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		4	9	4	9	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29400587	29400587	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:29400587G>A	ENST00000558402.1	+	14	2631	c.2032G>A	c.(2032-2034)Gga>Aga	p.G678R	APBA2_ENST00000411764.1_Missense_Mutation_p.G666R|APBA2_ENST00000561069.1_Missense_Mutation_p.G678R|APBA2_ENST00000558330.1_Missense_Mutation_p.G666R|APBA2_ENST00000558259.1_Missense_Mutation_p.G678R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	678	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G678R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGTGCAGAATGGAATTGTGAG	0.617																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2032-2034)GGA>AGA		amyloid beta A4 precursor protein-binding,							154.0	141.0	146.0					15																	29400587		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29400587G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2032G>A	15.37:g.29400587G>A	ENSP00000453293:p.Gly678Arg					APBA2_uc010azj.2_Missense_Mutation_p.G666R|APBA2_uc010uat.1_Missense_Mutation_p.G666R|APBA2_uc001zcl.2_Missense_Mutation_p.G666R	p.G678R	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	12	2239	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	678			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2032G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629657	0.67015	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.69306	-0.39	4.27	4.27	0.50696	PDZ/DHR/GLGF (4);	0.121175	0.53938	D	0.000056	D	0.84638	0.5516	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.991;0.999	D	0.88428	0.3033	10	0.87932	D	0	.	16.2145	0.82195	0.0:0.0:1.0:0.0	.	666;666;678	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	R	666;678	ENSP00000409312:G666R	ENSP00000219865:G678R	G	+	1	0	APBA2	27187879	1.000000	0.71417	0.750000	0.31169	0.197000	0.23852	9.552000	0.98115	2.356000	0.79943	0.655000	0.94253	GGA		PASS	0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		23	41	23	41	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30058721	30058721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:30058721G>A	ENST00000346128.6	-	5	811	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	TJP1_ENST00000495972.2_Nonsense_Mutation_p.Q113*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q117*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q113*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q113*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	113					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.Q113*(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACTGGTATTTGAACTTTCTTC	0.353																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(337-339)CAA>TAA		tight junction protein 1 isoform a							150.0	138.0	142.0					15																	30058721		1879	4108	5987	SO:0001587	stop_gained	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30058721G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.337C>T	15.37:g.30058721G>A	ENSP00000281537:p.Gln113*					TJP1_uc010azl.2_Nonsense_Mutation_p.Q101*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q117*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q113*	p.Q113*	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	5	812	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	113					B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	c.337C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995946	0.74703	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.39	5.39	0.77823	.	0.057666	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1421	0.93449	0.0:0.0:1.0:0.0	.	.	.	.	X	113;117;113;113;113	.	.	Q	-	1	0	TJP1	27846013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.113000	0.94321	2.524000	0.85096	0.655000	0.94253	CAA		PASS	0.353	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		13	29	13	29	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33261033	33261034	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:33261033_33261034GG>AA	ENST00000559047.1	-	5	2867_2868	c.2868_2869CC>TT	c.(2866-2871)ccCCct>ccTTct	p.P957S	FMN1_ENST00000334528.9_Missense_Mutation_p.P734S|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.P859S			Q68DA7	FMN1_HUMAN	formin 1	957	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P734S(2)|p.P957S(2)|p.P956P(1)|p.P733P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAGAGTCCAGGGGGAGGTGGGG	0.599																																						uc001zhf.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(2200-2202)CCT>TCT|c.(2197-2199)CCC>CCT		formin 1																																				SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261033G>A|g.chr15:33261034G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2868_2869delinsAA	15.37:g.33261033_33261034delinsAA	ENSP00000454047:p.Pro957Ser						p.P734S|p.P733P	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2200|2199	-		all_lung(180;1.14e-07)	957|956			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation|Silent	SNP	ENST00000559047.1	37	c.2200C>T|c.2199C>T																																																																																					PASS	0.599	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		22	45|44	22	44	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33261074	33261074	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:33261074G>A	ENST00000559047.1	-	5	2827	c.2828C>T	c.(2827-2829)cCt>cTt	p.P943L	FMN1_ENST00000334528.9_Missense_Mutation_p.P720L|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.P845L			Q68DA7	FMN1_HUMAN	formin 1	943	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P720L(1)|p.P943L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGAGCAGGAGGAGGCCCTCC	0.632																																						uc001zhf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2158-2160)CCT>CTT		formin 1							14.0	15.0	14.0					15																	33261074		1729	3860	5589	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261074G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2828C>T	15.37:g.33261074G>A	ENSP00000454047:p.Pro943Leu						p.P720L	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	2159	-		all_lung(180;1.14e-07)	943			FH1.|Pro-rich.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2159C>T		.	.	.	.	.	.	.	.	.	.	G	10.40	1.340183	0.24339	.	.	ENSG00000248905	ENST00000334528	D	0.87179	-2.22	4.28	4.28	0.50868	.	0.189835	0.46145	D	0.000309	D	0.85248	0.5653	L	0.29908	0.895	.	.	.	D	0.53312	0.959	P	0.57009	0.811	T	0.82472	-0.0440	9	0.09084	T	0.74	.	14.2225	0.65836	0.0:0.0:1.0:0.0	.	720	Q68DA7-5	.	L	720	ENSP00000333950:P720L	ENSP00000333950:P720L	P	-	2	0	FMN1	31048366	1.000000	0.71417	0.422000	0.26621	0.161000	0.22273	3.232000	0.51302	2.194000	0.70268	0.650000	0.86243	CCT		PASS	0.632	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		13	16	13	16	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33993236	33993236	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:33993236C>A	ENST00000389232.4	+	42	6508	c.6438C>A	c.(6436-6438)gaC>gaA	p.D2146E	RYR3_ENST00000415757.3_Missense_Mutation_p.D2146E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2146	4 X approximate repeats.				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.D2146E(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)		CTGTGATGGACAACAATGAGT	0.567											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6436-6438)GAC>GAA		ryanodine receptor 3							57.0	60.0	59.0					15																	33993236		1996	4178	6174	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33993236C>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.6438C>A	15.37:g.33993236C>A	ENSP00000373884:p.Asp2146Glu		OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	RYR3_uc010bar.2_Missense_Mutation_p.D2146E	p.D2146E	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)	42	6508	+		all_lung(180;7.18e-09)	2146			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6438C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732738	0.48939	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95205	-3.64;-3.64	4.7	3.78	0.43462	Intracellular calcium-release channel (1);	0.125954	0.52532	D	0.000068	D	0.91250	0.7242	L	0.45137	1.4	0.47819	D	0.999524	B;B	0.19583	0.003;0.037	B;B	0.34824	0.003;0.19	D	0.85912	0.1441	10	0.30854	T	0.27	.	8.1999	0.31419	0.0:0.7742:0.0:0.2258	.	2146;2146	Q15413-2;Q15413	.;RYR3_HUMAN	E	2146	ENSP00000373884:D2146E;ENSP00000399610:D2146E	ENSP00000354735:D2146E	D	+	3	2	RYR3	31780528	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.997000	0.40786	2.599000	0.87857	0.561000	0.74099	GAC		PASS	0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	15	4	15	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34015006	34015006	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:34015006G>A	ENST00000389232.4	+	44	6780	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.G2237E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2237	4 X approximate repeats.				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.G2237E(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)		GGTGAGGGGGGAAACGGGCTC	0.572																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6709-6711)GGA>GAA		ryanodine receptor 3							83.0	92.0	89.0					15																	34015006		1973	4153	6126	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015006G>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.6710G>A	15.37:g.34015006G>A	ENSP00000373884:p.Gly2237Glu					RYR3_uc010bar.2_Missense_Mutation_p.G2237E	p.G2237E	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)	44	6780	+		all_lung(180;7.18e-09)	2237			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6710G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367024	0.82463	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99671	-6.35;-6.35	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99651	0.9871	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.97802	1.0245	10	0.87932	D	0	.	18.336	0.90288	0.0:0.0:1.0:0.0	.	2237;2237	Q15413-2;Q15413	.;RYR3_HUMAN	E	2237	ENSP00000373884:G2237E;ENSP00000399610:G2237E	ENSP00000354735:G2237E	G	+	2	0	RYR3	31802298	1.000000	0.71417	0.996000	0.52242	0.400000	0.30750	9.601000	0.98297	2.553000	0.86117	0.555000	0.69702	GGA		PASS	0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			36	68	36	68	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34047308	34047308	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:34047308G>A	ENST00000389232.4	+	58	8512	c.8442G>A	c.(8440-8442)aaG>aaA	p.K2814K	RYR3_ENST00000415757.3_Silent_p.K2814K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2814	4 X approximate repeats.				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.K2814K(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)		CCATGGAGAAGAGGTTTGCCT	0.433																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8440-8442)AAG>AAA		ryanodine receptor 3							106.0	107.0	107.0					15																	34047308		1913	4124	6037	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34047308G>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.8442G>A	15.37:g.34047308G>A						RYR3_uc010bar.2_Silent_p.K2814K	p.K2814K	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)	58	8512	+		all_lung(180;7.18e-09)	2814			4.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.8442G>A	CCDS45210.1																																																																																				PASS	0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	20	10	20	---	---	---	---
AVEN	57099	broad.mit.edu	37	15	34159869	34159869	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:34159869T>G	ENST00000306730.3	-	5	929	c.800A>C	c.(799-801)gAt>gCt	p.D267A	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	267					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)		p.D267A(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTTCTGAGAATCCCTTGAAGG	0.522																																						uc001zhj.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(799-801)GAT>GCT		cell death regulator aven							102.0	104.0	103.0					15																	34159869		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34159869T>G	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.800A>C	15.37:g.34159869T>G	ENSP00000306822:p.Asp267Ala						p.D267A	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	5	856	-		all_lung(180;1.78e-08)	267						Missense_Mutation	SNP	ENST00000306730.3	37	c.800A>C	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	T	1.146	-0.648088	0.03506	.	.	ENSG00000169857	ENST00000306730	T	0.39997	1.05	4.62	-4.83	0.03161	.	1.185640	0.06022	N	0.651562	T	0.11410	0.0278	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20739	-1.0266	10	0.08837	T	0.75	0.0216	3.6718	0.08277	0.1035:0.2778:0.4076:0.2111	.	267	Q9NQS1	AVEN_HUMAN	A	267	ENSP00000306822:D267A	ENSP00000306822:D267A	D	-	2	0	AVEN	31947161	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.692000	0.05127	-0.730000	0.04869	-1.276000	0.01395	GAT		PASS	0.522	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		16	42	16	42	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34551145	34551145	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:34551145C>T	ENST00000354181.3	-	5	904	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	SLC12A6_ENST00000451844.2_5'UTR|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558667.1_Splice_Site_p.E138K|SLC12A6_ENST00000560611.1_Splice_Site_p.E138K|SLC12A6_ENST00000458406.2_Splice_Site_p.E79K|SLC12A6_ENST00000397707.2_Splice_Site_p.E123K|SLC12A6_ENST00000558589.1_Splice_Site_p.E129K|SLC12A6_ENST00000290209.5_Splice_Site_p.E87K|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000397702.2_Splice_Site_p.E79K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	138					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E87K(1)|p.E129K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCCATTTCTTCCTATAAAGCC	0.388																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(412-414)GAA>AAA		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						118.0	109.0	112.0					15																	34551145		2201	4298	6499	SO:0001630	splice_region_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34551145C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.412-1G>A	15.37:g.34551145C>T						SLC12A6_uc001zhv.2_Missense_Mutation_p.E87K|SLC12A6_uc001zhx.2_Missense_Mutation_p.E123K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E79K|SLC12A6_uc001zib.2_Missense_Mutation_p.E129K|SLC12A6_uc001zic.2_Missense_Mutation_p.E138K|SLC12A6_uc010bau.2_Missense_Mutation_p.E138K|SLC12A6_uc001zid.2_Missense_Mutation_p.E79K|SLC12A6_uc001zhu.2_5'UTR	p.E138K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	4	576	-		all_lung(180;2.78e-08)	138			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.412G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422451	0.96111	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.84800	-1.9;-1.87;-1.9;-1.9	4.82	4.82	0.62117	.	0.134693	0.47852	D	0.000205	D	0.90007	0.6880	L	0.52905	1.665	0.80722	D	1	D;P;D	0.65815	0.995;0.919;0.975	D;P;P	0.66497	0.944;0.593;0.77	D	0.91055	0.4881	10	0.87932	D	0	.	16.8355	0.85956	0.0:1.0:0.0:0.0	.	123;138;87	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	K	87;123;129;79;79	ENSP00000290209:E87K;ENSP00000380819:E123K;ENSP00000380814:E79K;ENSP00000387725:E79K	ENSP00000290209:E87K	E	-	1	0	SLC12A6	32338437	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.320000	0.79064	2.508000	0.84585	0.655000	0.94253	GAA		PASS	0.388	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Missense_Mutation	7	21	7	21	---	---	---	---
NUTM1	256646	broad.mit.edu	37	15	34648436	34648436	+	Missense_Mutation	SNP	G	G	A	rs140018699		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:34648436G>A	ENST00000333756.4	+	7	2298	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	NUTM1_ENST00000537011.1_Missense_Mutation_p.D743N|NUTM1_ENST00000438749.3_Missense_Mutation_p.D733N	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	715						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D715N(1)									GGAGAGGGACGATGTCTGTCT	0.542																																						uc001zif.2										T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	1	Substitution - Missense(1)		lung(1)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(2143-2145)GAT>AAT		nuclear protein in testis		G	ASN/ASP	2,4400	4.2+/-10.8	0,2,2199	55.0	54.0	54.0		2143	-7.8	0.0	15	dbSNP_134	54	0,8596		0,0,4298	no	missense	C15orf55	NM_175741.1	23	0,2,6497	AA,AG,GG		0.0,0.0454,0.0154	benign	715/1133	34648436	2,12996	2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34648436G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2143G>A	15.37:g.34648436G>A	ENSP00000329448:p.Asp715Asn					C15orf55_uc010ucc.1_Missense_Mutation_p.D743N|C15orf55_uc010ucd.1_Missense_Mutation_p.D733N	p.D715N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	2298	+		all_lung(180;2.78e-08)	715					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2143G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588290	0.28357	4.54E-4	0.0	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08193	3.13;3.12;3.13	4.67	-7.78	0.01223	.	1.903130	0.02324	N	0.073269	T	0.06645	0.0170	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.16928	-1.0386	10	0.22706	T	0.39	.	15.3277	0.74179	0.793:0.0:0.207:0.0	.	733;743;715	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	N	743;733;715	ENSP00000444896:D743N;ENSP00000407031:D733N;ENSP00000329448:D715N	ENSP00000329448:D715N	D	+	1	0	C15orf55	32435728	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.189000	0.01248	-1.697000	0.01420	-0.123000	0.14984	GAT		PASS	0.542	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		15	26	15	26	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35149101	35149101	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:35149101G>A	ENST00000156471.5	-	35	4575	c.4350C>T	c.(4348-4350)gcC>gcT	p.A1450A		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1450					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A1450A(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGCAGGGATGGCTTCTGGAG	0.552																																						uc001ziv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(4348-4350)GCC>GCT		aquarius							137.0	150.0	146.0					15																	35149101		2025	4192	6217	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35149101G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4350C>T	15.37:g.35149101G>A							p.A1450A	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	35	4531	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1450					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.4350C>T	CCDS42013.1																																																																																				PASS	0.552	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		18	36	18	36	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35202474	35202474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:35202474G>A	ENST00000156471.5	-	17	1750	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	509					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R509*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGGGCCATTCGCGCCCAACCA	0.443																																						uc001ziv.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1525-1527)CGA>TGA		aquarius							82.0	87.0	85.0					15																	35202474		1909	4121	6030	SO:0001587	stop_gained	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202474G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1525C>T	15.37:g.35202474G>A	ENSP00000156471:p.Arg509*						p.R509*	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1706	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	509					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	ENST00000156471.5	37	c.1525C>T	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813420	0.90790	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.3	1.17	0.20885	.	0.051922	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1738	15.9707	0.80013	0.0:0.0:0.419:0.581	.	.	.	.	X	509	.	ENSP00000156471:R509X	R	-	1	2	AQR	32989766	0.943000	0.32029	0.983000	0.44433	0.297000	0.27493	1.343000	0.33930	0.070000	0.16634	-1.496000	0.00964	CGA		PASS	0.443	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		11	17	11	17	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39874751	39874751	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:39874751C>T	ENST00000260356.5	+	3	590	c.425C>T	c.(424-426)tCt>tTt	p.S142F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	142	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.S142F(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CACGTGGTGTCTGTGGAAGAA	0.587																																						uc001zkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)	6						c.(424-426)TCT>TTT		thrombospondin 1 precursor	Becaplermin(DB00102)						56.0	46.0	50.0					15																	39874751		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874751C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.425C>T	15.37:g.39874751C>T	ENSP00000260356:p.Ser142Phe						p.S142F	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	604	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	142			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.425C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689185	0.88735	.	.	ENSG00000137801	ENST00000260356	T	0.02301	4.35	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.32218	N	0.006419	T	0.10294	0.0252	M	0.62266	1.93	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	T	0.00754	-1.1580	10	0.54805	T	0.06	-8.5102	17.769	0.88486	0.0:1.0:0.0:0.0	.	142	P07996	TSP1_HUMAN	F	142	ENSP00000260356:S142F	ENSP00000260356:S142F	S	+	2	0	THBS1	37662043	1.000000	0.71417	0.981000	0.43875	0.894000	0.52154	7.461000	0.80834	2.673000	0.90976	0.462000	0.41574	TCT		PASS	0.587	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		8	16	8	16	---	---	---	---
EIF2AK4	440275	broad.mit.edu	37	15	40293219	40293219	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:40293219G>A	ENST00000263791.5	+	21	2996	c.2953G>A	c.(2953-2955)Gat>Aat	p.D985N	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D957N	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	985	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.D985N(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTTGAACCACGATCCAGCAAA	0.527																																						uc001zkm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(2953-2955)GAT>AAT		eukaryotic translation initiation factor 2 alpha							123.0	131.0	128.0					15																	40293219		2162	4270	6432	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40293219G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2953G>A	15.37:g.40293219G>A	ENSP00000263791:p.Asp985Asn					EIF2AK4_uc010bbj.1_Missense_Mutation_p.D686N|EIF2AK4_uc001zkn.1_Missense_Mutation_p.D85N|EIF2AK4_uc001zko.1_5'Flank	p.D985N	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	21	3003	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	985			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2953G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722423	0.89298	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.27890	1.64;1.64	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049106	0.85682	N	0.000000	T	0.41994	0.1183	N	0.16266	0.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33523	-0.9865	10	0.37606	T	0.19	-15.9786	19.3679	0.94471	0.0:0.0:1.0:0.0	.	985	Q9P2K8	E2AK4_HUMAN	N	985;957	ENSP00000263791:D985N;ENSP00000372174:D957N	ENSP00000263791:D985N	D	+	1	0	EIF2AK4	38080511	1.000000	0.71417	0.337000	0.25536	0.760000	0.43138	7.962000	0.87912	2.582000	0.87167	0.555000	0.69702	GAT		PASS	0.527	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			34	65	34	65	---	---	---	---
C15orf57	90416	broad.mit.edu	37	15	40855148	40855148	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:40855148A>G	ENST00000358005.3	-	2	340	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	C15orf57_ENST00000416810.2_Missense_Mutation_p.C23R|C15orf57_ENST00000558750.1_Missense_Mutation_p.C32R|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Missense_Mutation_p.C23R|C15orf57_ENST00000559911.1_Missense_Mutation_p.C23R|C15orf57_ENST00000560305.1_Missense_Mutation_p.C23R|C15orf57_ENST00000558113.1_Missense_Mutation_p.C23R|C15orf57_ENST00000558871.1_Missense_Mutation_p.C23R	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	23								p.C32R(1)|p.C23R(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						AGACAGGAACAAATTTCAGCC	0.468																																						uc001zmc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(67-69)TGT>CGT		coiled-coil domain containing 32 isoform a							184.0	181.0	182.0					15																	40855148		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40855148A>G	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.67T>C	15.37:g.40855148A>G	ENSP00000350695:p.Cys23Arg					C15orf57_uc001zly.2_Missense_Mutation_p.C21R|C15orf57_uc001zma.1_Missense_Mutation_p.C32R|C15orf57_uc001zmb.1_Missense_Mutation_p.C23R|C15orf57_uc010bbr.2_Missense_Mutation_p.C21R	p.C23R	NM_001080792	NP_001074261	Q9BV29	CO057_HUMAN			2	157	-			23					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.67T>C	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023823	0.35701	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.65732	-0.17	4.92	3.77	0.43336	.	0.049472	0.85682	D	0.000000	T	0.71239	0.3316	L	0.61218	1.895	0.80722	D	1	P;P;D	0.55800	0.928;0.928;0.973	P;P;P	0.59424	0.734;0.734;0.857	T	0.72261	-0.4345	10	0.66056	D	0.02	-13.8922	10.948	0.47312	0.8499:0.0:0.0:0.1501	.	23;32;23	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	R	23;32	ENSP00000350695:C23R	ENSP00000350695:C23R	C	-	1	0	C15orf57	38642440	1.000000	0.71417	0.998000	0.56505	0.009000	0.06853	7.271000	0.78506	0.788000	0.33755	-0.542000	0.04241	TGT		PASS	0.468	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		57	104	57	104	---	---	---	---
ZFYVE19	84936	broad.mit.edu	37	15	41102149	41102150	+	Missense_Mutation	DNP	CC	CC	TT	rs199947417	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:41102149_41102150CC>TT	ENST00000355341.4	+	4	1053_1054	c.552_553CC>TT	c.(550-555)ctCCgc>ctTTgc	p.R185C	ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	185					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)	p.R185C(3)|p.L184L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TAGCACGACTCCGCCAGGAGAA	0.604																																						uc001zmt.1																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(3)|skin(1)		0						c.(550-552)CTC>CTT|c.(553-555)CGC>TGC		zinc finger, FYVE domain containing 19																																				SO:0001583	missense	84936						zinc ion binding	g.chr15:41102149C>T|g.chr15:41102150C>T	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		Exception_encountered	15.37:g.41102149_41102150delinsTT	ENSP00000347498:p.Arg185Cys					DNAJC17_uc001zms.1_5'Flank|DNAJC17_uc010bbz.1_5'Flank|DNAJC17_uc010bca.1_5'Flank|DNAJC17_uc010bcb.1_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.L184L|ZFYVE19_uc001zmv.1_Silent_p.L9L|ZFYVE19_uc001zmw.1_Silent_p.L9L|ZFYVE19_uc001zmx.1_Silent_p.L9L|ZFYVE19_uc010bcc.1_Silent_p.L9L|DNAJC17_uc001zms.1_5'Flank|DNAJC17_uc010bbz.1_5'Flank|DNAJC17_uc010bca.1_5'Flank|DNAJC17_uc010bcb.1_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.R185C|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R10C|ZFYVE19_uc001zmw.1_Missense_Mutation_p.R10C|ZFYVE19_uc001zmx.1_Missense_Mutation_p.R10C|ZFYVE19_uc010bcc.1_Missense_Mutation_p.R10C	p.L184L|p.R185C	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1066|1067	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	184|185					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent|Missense_Mutation	SNP	ENST00000355341.4	37	c.552C>T|c.553C>T	CCDS42025.1																																																																																				PASS	0.604	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		21	28|30	21	28	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41817284	41817284	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:41817284C>A	ENST00000304330.4	-	15	2096	c.1980G>T	c.(1978-1980)ctG>ctT	p.L660L	RPAP1_ENST00000561603.1_Silent_p.L660L|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	660						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L660L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGGCAAGGCCAGTTCTTGGG	0.607																																						uc001zod.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1978-1980)CTG>CTT		RNA polymerase II associated protein 1							48.0	46.0	47.0					15																	41817284		2203	4300	6503	SO:0001819	synonymous_variant	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41817284C>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1980G>T	15.37:g.41817284C>A						RPAP1_uc001zoc.2_5'Flank	p.L660L	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	15	2104	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	660					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	ENST00000304330.4	37	c.1980G>T	CCDS10079.1																																																																																				PASS	0.607	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		7	8	7	8	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41820527	41820527	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:41820527C>T	ENST00000304330.4	-	10	1282	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	RPAP1_ENST00000561603.1_Missense_Mutation_p.G389E|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	389						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.G389E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TAGGGAATACCCCGCTCTCTG	0.547																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1165-1167)GGG>GAG		RNA polymerase II associated protein 1							58.0	45.0	49.0					15																	41820527		2203	4299	6502	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41820527C>T	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1166G>A	15.37:g.41820527C>T	ENSP00000306123:p.Gly389Glu						p.G389E	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	10	1290	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	389					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1166G>A	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881459	0.91740	.	.	ENSG00000103932	ENST00000304330	D	0.87571	-2.27	5.64	5.64	0.86602	RNA polymerase II-associated protein 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96218	0.9158	10	0.87932	D	0	-7.157	18.4728	0.90781	0.0:1.0:0.0:0.0	.	389	Q9BWH6	RPAP1_HUMAN	E	389	ENSP00000306123:G389E	ENSP00000306123:G389E	G	-	2	0	RPAP1	39607819	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.251000	0.78297	2.657000	0.90304	0.655000	0.94253	GGG		PASS	0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		4	6	4	6	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42107463	42107464	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42107463_42107464CC>TT	ENST00000456763.2	+	12	1391_1392	c.1195_1196CC>TT	c.(1195-1197)CCc>TTc	p.P399F	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P393F|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P276F|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.P393F	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	399								p.P393L(1)|p.P393F(1)|p.P393S(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGGTCTACCCCGAGGTGAAG	0.564																																						uc001zok.3																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1195-1197)CCC>TCC|c.(1195-1197)CCC>CTC		mitogen-activated protein kinase binding protein																																				SO:0001583	missense	23005							g.chr15:42107463C>T|g.chr15:42107464C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	Exception_encountered	15.37:g.42107463_42107464delinsTT	ENSP00000393099:p.Pro399Phe					MAPKBP1_uc001zoj.3_Missense_Mutation_p.P393S|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.P393S|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR|MAPKBP1_uc001zoj.3_Missense_Mutation_p.P393L|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.P393L|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	p.P399S|p.P399L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1481|1482	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	399			WD 6.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1195C>T|c.1196C>T	CCDS45239.1																																																																																				PASS	0.564	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		10|11	50|49	10	49	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42279560	42279560	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42279560G>A	ENST00000399518.3	-	17	2331	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.I586I	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	603	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.I586I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTTCAGGCAGGATCGGCTCGT	0.557																																						uc001zow.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1756-1758)ATC>ATT		phospholipase A2, group 4E							62.0	64.0	64.0					15																	42279560		1980	4140	6120	SO:0001819	synonymous_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42279560G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1845C>T	15.37:g.42279560G>A						PLA2G4E_uc010udc.1_Silent_p.I58I|PLA2G4E_uc001zov.1_Silent_p.I239I	p.I586I	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	16	1758	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	603			PLA2c.		Q6ZSC0	Silent	SNP	ENST00000399518.3	37	c.1758C>T	CCDS55962.1																																																																																				PASS	0.557	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		8	23	8	23	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42436707	42436707	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42436707G>A	ENST00000382396.4	-	17	2002	c.1916C>T	c.(1915-1917)aCc>aTc	p.T639I	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.T641I			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	639	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|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)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.T639I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGACCCCGGGTGAAGTTAAA	0.622																																						uc001zoz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1915-1917)ACC>ATC		phospholipase A2, group IVF							78.0	69.0	72.0					15																	42436707		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42436707G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1916C>T	15.37:g.42436707G>A	ENSP00000371833:p.Thr639Ile					PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Missense_Mutation_p.T271I|PLA2G4F_uc010bcr.2_Missense_Mutation_p.T390I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.T390I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.T426I	p.T639I	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	17	1979	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	639			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1916C>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241871	0.22796	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.14266	2.52;2.52	5.84	0.217	0.15264	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.509670	0.19212	N	0.119917	T	0.08802	0.0218	N	0.24115	0.695	0.21325	N	0.999729	B;B	0.15473	0.013;0.008	B;B	0.12837	0.008;0.008	T	0.28235	-1.0050	10	0.44086	T	0.13	-3.9184	10.2652	0.43452	0.4829:0.0:0.5171:0.0	.	426;639	A2RRC4;Q68DD2	.;PA24F_HUMAN	I	635;641;639;639	ENSP00000380442:T641I;ENSP00000371833:T639I	ENSP00000290497:T635I	T	-	2	0	PLA2G4F	40223999	0.309000	0.24518	0.891000	0.34965	0.862000	0.49288	0.663000	0.25053	0.117000	0.18138	0.609000	0.83330	ACC		PASS	0.622	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		17	22	17	22	---	---	---	---
TMEM87A	25963	broad.mit.edu	37	15	42553440	42553440	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42553440G>A	ENST00000389834.4	-	5	677	c.413C>T	c.(412-414)tCt>tTt	p.S138F	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S138F|TMEM87A_ENST00000448392.1_Missense_Mutation_p.S77F	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	138						integral component of membrane (GO:0016021)		p.S138F(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AAAATCTCCAGAAAAGGTCTA	0.318																																						uc010udd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(412-414)TCT>TTT		transmembrane protein 87A isoform 1							35.0	36.0	35.0					15																	42553440		2198	4298	6496	SO:0001583	missense	25963					integral to membrane		g.chr15:42553440G>A	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.413C>T	15.37:g.42553440G>A	ENSP00000374484:p.Ser138Phe					TMEM87A_uc001zpf.3_Missense_Mutation_p.S77F|TMEM87A_uc010bcu.1_Missense_Mutation_p.S77F|TMEM87A_uc001zpg.2_Missense_Mutation_p.S138F	p.S138F	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	5	572	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	138					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.413C>T	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512510	0.64522	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	4.64	4.64	0.57946	.	0.218240	0.39687	N	0.001299	T	0.43478	0.1249	N	0.24115	0.695	0.30223	N	0.79659	B;B;D	0.76494	0.146;0.261;0.999	B;B;D	0.83275	0.023;0.046;0.996	T	0.20207	-1.0282	9	0.02654	T	1	-11.046	13.1824	0.59662	0.0:0.0:1.0:0.0	.	138;77;138	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	F	138;77;114;138	.	ENSP00000305894:S138F	S	-	2	0	TMEM87A	40340732	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.815000	0.48018	2.578000	0.87016	0.467000	0.42956	TCT		PASS	0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		3	15	3	15	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42580012	42580012	+	Missense_Mutation	SNP	G	G	T	rs149261745	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42580012G>T	ENST00000318010.8	+	4	565	c.325G>T	c.(325-327)Gta>Tta	p.V109L	GANC_ENST00000566442.1_Missense_Mutation_p.V109L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	109					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.V109L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GCCAAGCACTGTAAGGTAAGC	0.363																																						uc001zpi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(325-327)GTA>TTA		glucosidase, alpha; neutral C							72.0	71.0	71.0					15																	42580012		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42580012G>T	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.325G>T	15.37:g.42580012G>T	ENSP00000326227:p.Val109Leu					GANC_uc001zph.2_Missense_Mutation_p.V109L|GANC_uc001zpj.1_5'UTR	p.V109L	NM_198141	NP_937784	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	4	639	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	109					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.325G>T	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570308	0.28003	.	.	ENSG00000214013	ENST00000318010	T	0.18810	2.19	5.55	0.322	0.15888	Glycoside hydrolase-type carbohydrate-binding (1);	0.565040	0.18567	N	0.137443	T	0.14527	0.0351	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.20438	-1.0275	10	0.28530	T	0.3	-4.5651	4.9821	0.14170	0.3446:0.279:0.3765:0.0	.	109;109	Q8TET4;Q2M2A3	GANC_HUMAN;.	L	109	ENSP00000326227:V109L	ENSP00000326227:V109L	V	+	1	0	GANC	40367304	0.049000	0.20398	0.481000	0.27354	0.932000	0.56968	-0.206000	0.09398	0.160000	0.19432	-0.140000	0.14226	GTA		PASS	0.363	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		17	41	17	41	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42652294	42652294	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42652294C>T	ENST00000397163.3	+	1	510	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CAPN3_ENST00000318023.7_Silent_p.F97F|CAPN3_ENST00000357568.3_Silent_p.F97F|CAPN3_ENST00000349748.3_Silent_p.F97F|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	97	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.		Missing (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F97F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCATCCAGTTCGTCTGGAAGA	0.527																																						uc001zpn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(289-291)TTC>TTT		calpain 3 isoform a							151.0	168.0	162.0					15																	42652294		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42652294C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.291C>T	15.37:g.42652294C>T						CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Silent_p.F97F|CAPN3_uc001zpp.1_Silent_p.F97F	p.F97F	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	1	597	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	97		Missing (in LGMD2A).	Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.291C>T	CCDS45245.1																																																																																				PASS	0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			53	132	53	132	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42710095	42710095	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42710095G>A	ENST00000263805.4	-	18	5829	c.5503C>T	c.(5503-5505)Ctg>Ttg	p.L1835L	ZNF106_ENST00000565380.1_Silent_p.L1063L|ZNF106_ENST00000565611.1_Silent_p.L1020L	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1835					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1835L(1)									TGGTCGGTCAGCAAGTGTTGT	0.443																																						uc001zpw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(5503-5505)CTG>TTG		zinc finger protein 106 homolog							122.0	112.0	116.0					15																	42710095		2203	4299	6502	SO:0001819	synonymous_variant	64397					nucleolus	zinc ion binding	g.chr15:42710095G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5503C>T	15.37:g.42710095G>A						ZFP106_uc001zpu.2_Silent_p.L933L|ZFP106_uc001zpv.2_Silent_p.L1020L|ZFP106_uc001zpx.2_Silent_p.L1063L	p.L1835L	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	18	5838	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1835			C2H2-type 2; atypical.		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.5503C>T	CCDS32208.1																																																																																				PASS	0.443	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		14	29	14	29	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42717087	42717087	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42717087T>A	ENST00000263805.4	-	13	5392	c.5066A>T	c.(5065-5067)aAt>aTt	p.N1689I	ZNF106_ENST00000565380.1_Missense_Mutation_p.N917I|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565660.1_5'Flank|ZNF106_ENST00000565611.1_Missense_Mutation_p.N874I	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1689					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N1689I(1)									GAGCAGTCCATTCCGGGCATC	0.517																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(5065-5067)AAT>ATT		zinc finger protein 106 homolog							79.0	68.0	71.0					15																	42717087		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42717087T>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5066A>T	15.37:g.42717087T>A	ENSP00000263805:p.Asn1689Ile					ZFP106_uc001zpu.2_Missense_Mutation_p.N787I|ZFP106_uc001zpv.2_Missense_Mutation_p.N874I|ZFP106_uc001zpx.2_Missense_Mutation_p.N917I	p.N1689I	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	13	5401	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1689			WD 3.		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.5066A>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010376	0.75046	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.19250	2.16	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.094156	0.64402	D	0.000001	T	0.40839	0.1133	L	0.53561	1.675	0.58432	D	0.999997	D;D;D	0.71674	0.981;0.998;0.966	P;D;P	0.64595	0.77;0.927;0.641	T	0.22591	-1.0212	10	0.87932	D	0	-24.5687	15.6649	0.77221	0.0:0.0:0.0:1.0	.	917;1689;917	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	I	1689;917	ENSP00000263805:N1689I	ENSP00000263805:N1689I	N	-	2	0	ZFP106	40504379	0.997000	0.39634	0.991000	0.47740	0.856000	0.48823	2.911000	0.48774	2.281000	0.76405	0.533000	0.62120	AAT		PASS	0.517	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		8	19	8	19	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42734294	42734294	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42734294G>A	ENST00000263805.4	-	7	3997	c.3671C>T	c.(3670-3672)tCc>tTc	p.S1224F	ZNF106_ENST00000565380.1_Missense_Mutation_p.S452F|ZNF106_ENST00000565611.1_Missense_Mutation_p.S409F	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1224					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1224F(1)									TAATTCCTTGGACACATTGCA	0.443																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3670-3672)TCC>TTC		zinc finger protein 106 homolog							161.0	146.0	151.0					15																	42734294		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42734294G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3671C>T	15.37:g.42734294G>A	ENSP00000263805:p.Ser1224Phe					ZFP106_uc001zpu.2_Missense_Mutation_p.S409F|ZFP106_uc001zpv.2_Missense_Mutation_p.S409F|ZFP106_uc001zpx.2_Missense_Mutation_p.S452F	p.S1224F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	7	4006	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1224					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.3671C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542130	0.65198	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.56941	0.43	5.44	5.44	0.79542	.	0.471673	0.21145	N	0.079409	T	0.46852	0.1414	L	0.44542	1.39	0.32280	N	0.567737	P;P;P	0.48162	0.906;0.883;0.906	P;B;P	0.44732	0.459;0.391;0.459	T	0.58973	-0.7541	10	0.46703	T	0.11	0.1308	9.3399	0.38074	0.0977:0.0:0.9023:0.0	.	452;1224;452	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	F	1224;452	ENSP00000263805:S1224F	ENSP00000263805:S1224F	S	-	2	0	ZFP106	40521586	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	3.837000	0.55820	2.831000	0.97527	0.655000	0.94253	TCC		PASS	0.443	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		15	44	15	44	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42743038	42743038	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:42743038G>A	ENST00000263805.4	-	2	1689	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	455					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L455F(1)									GGACATGGAAGGAGTGGGGAT	0.418																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1363-1365)CTT>TTT		zinc finger protein 106 homolog							170.0	170.0	170.0					15																	42743038		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42743038G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1363C>T	15.37:g.42743038G>A	ENSP00000263805:p.Leu455Phe					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L238F|ZFP106_uc001zpy.1_Missense_Mutation_p.L478F	p.L455F	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	1698	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	455					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1363C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980480	0.53827	.	.	ENSG00000103994	ENST00000263805	T	0.61742	0.08	5.31	5.31	0.75309	.	0.146689	0.42821	D	0.000644	T	0.70937	0.3281	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.973	T	0.72623	-0.4237	10	0.87932	D	0	-16.237	12.4705	0.55783	0.0761:0.0:0.9238:0.0	.	238;455	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	F	455	ENSP00000263805:L455F	ENSP00000263805:L455F	L	-	1	0	ZFP106	40530330	1.000000	0.71417	0.863000	0.33907	0.755000	0.42902	4.242000	0.58714	2.760000	0.94817	0.556000	0.70494	CTT		PASS	0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		38	67	38	67	---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43594442	43594442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:43594442G>A	ENST00000452443.2	-	1	11	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	RP11-402F9.3_ENST00000564058.1_RNA	NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	3					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.Q3*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACTCACCCTGATCCATCTCC	0.507																																						uc001zrf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(7-9)CAG>TAG		transglutaminase 7	L-Glutamine(DB00130)						271.0	205.0	227.0					15																	43594442		2201	4299	6500	SO:0001587	stop_gained	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43594442G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.7C>T	15.37:g.43594442G>A	ENSP00000389466:p.Gln3*						p.Q3*	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	1	12	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	3						Nonsense_Mutation	SNP	ENST00000452443.2	37	c.7C>T	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072941	0.76415	.	.	ENSG00000159495	ENST00000452443	.	.	.	4.75	2.81	0.32909	.	1.325120	0.05277	N	0.518693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	11.4363	0.50070	0.0:0.3953:0.6047:0.0	.	.	.	.	X	3	.	ENSP00000389466:Q3X	Q	-	1	0	TGM7	41381734	0.000000	0.05858	0.751000	0.31187	0.928000	0.56348	0.168000	0.16622	0.681000	0.31386	0.655000	0.94253	CAG		PASS	0.507	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		17	34	17	34	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43817847	43817847	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:43817847G>A	ENST00000300231.5	+	4	4626	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E	MAP1A_ENST00000399453.1_Silent_p.E1392E|MAP1A_ENST00000382031.1_Silent_p.E1630E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1392					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E1392E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAAAGATGAGGCTCTGCATG	0.453																																						uc001zrt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(4174-4176)GAG>GAA		microtubule-associated protein 1A	Estramustine(DB01196)						92.0	89.0	90.0					15																	43817847		1905	4114	6019	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817847G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4176G>A	15.37:g.43817847G>A							p.E1392E	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4643	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1392					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.4176G>A	CCDS42031.1																																																																																				PASS	0.453	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		36	68	36	68	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43895470	43895470	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:43895470T>C	ENST00000450892.2	-	23	4592	c.4515A>G	c.(4513-4515)gaA>gaG	p.E1505E	STRC_ENST00000541030.1_Silent_p.E732E|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1505					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.E1505E(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTGCCCGCAGTTCCTCAGGCC	0.542																																						uc001zsf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4513-4515)GAA>GAG		stereocilin precursor							74.0	66.0	69.0					15																	43895470		2200	4297	6497	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43895470T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4515A>G	15.37:g.43895470T>C						STRC_uc010bdl.2_Silent_p.E732E|STRC_uc001zse.2_Silent_p.E23E	p.E1505E	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	23	4593	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1505						Silent	SNP	ENST00000450892.2	37	c.4515A>G	CCDS10098.1																																																																																				PASS	0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		7	44	7	44	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44856758	44856758	+	Missense_Mutation	SNP	C	C	T	rs369467143		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:44856758C>T	ENST00000261866.7	-	39	7154	c.7138G>A	c.(7138-7140)Gag>Aag	p.E2380K	SPG11_ENST00000535302.2_Missense_Mutation_p.E2267K|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2380					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E2380K(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGGAAATCTCTTCAAATATA	0.338																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(7138-7140)GAG>AAG		spatacsin isoform 1							48.0	51.0	50.0					15																	44856758		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44856758C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7138G>A	15.37:g.44856758C>T	ENSP00000261866:p.Glu2380Lys					SPG11_uc010bdw.2_Missense_Mutation_p.E510K|SPG11_uc010ueh.1_Missense_Mutation_p.E2267K|SPG11_uc010uei.1_Intron	p.E2380K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	39	7169	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2380			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.7138G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426671	0.83667	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.80033	-1.33;-0.97	6.17	6.17	0.99709	.	0.351474	0.32244	N	0.006375	D	0.83317	0.5228	M	0.67953	2.075	0.80722	D	1	P;P;P	0.47762	0.526;0.9;0.9	B;P;P	0.45794	0.314;0.493;0.493	D	0.84704	0.0730	10	0.72032	D	0.01	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2267;2380;2380	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	K	2380;2267	ENSP00000261866:E2380K;ENSP00000445278:E2267K	ENSP00000261866:E2380K	E	-	1	0	SPG11	42644050	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.796000	0.69080	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.338	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			16	35	16	35	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44892803	44892803	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:44892803G>A	ENST00000261866.7	-	21	3564	c.3548C>T	c.(3547-3549)tCt>tTt	p.S1183F	SPG11_ENST00000535302.2_Missense_Mutation_p.S1183F|SPG11_ENST00000558319.1_Missense_Mutation_p.S1183F|SPG11_ENST00000427534.2_Missense_Mutation_p.S1183F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1183					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.S1183F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTCAGGGCTAGAGAAATGTGG	0.358																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3547-3549)TCT>TTT		spatacsin isoform 1							106.0	114.0	111.0					15																	44892803		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44892803G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3548C>T	15.37:g.44892803G>A	ENSP00000261866:p.Ser1183Phe					SPG11_uc010ueh.1_Missense_Mutation_p.S1183F|SPG11_uc010uei.1_Missense_Mutation_p.S1183F|SPG11_uc001zty.1_5'UTR	p.S1183F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	21	3579	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1183			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3548C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326118	0.81580	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81247	-1.47;-1.47;-1.47	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	M	0.77103	2.36	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	D	0.91180	0.4975	10	0.87932	D	0	.	16.5454	0.84444	0.0:0.1309:0.8691:0.0	.	1183;1183;1183	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	F	1183	ENSP00000261866:S1183F;ENSP00000445278:S1183F;ENSP00000396110:S1183F	ENSP00000261866:S1183F	S	-	2	0	SPG11	42680095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.450000	0.73477	1.436000	0.47453	0.650000	0.86243	TCT		PASS	0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			28	48	28	48	---	---	---	---
TRIM69	140691	broad.mit.edu	37	15	45052027	45052027	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:45052027C>T	ENST00000559390.1	+	7	1846	c.918C>T	c.(916-918)atC>atT	p.I306I	TRIM69_ENST00000561043.1_Silent_p.I69I|TRIM69_ENST00000329464.4_Silent_p.I306I|TRIM69_ENST00000558329.1_Silent_p.I85I|TRIM69_ENST00000560442.1_Silent_p.I102I|TRIM69_ENST00000338264.4_Silent_p.I147I|TRIM69_ENST00000558173.1_Silent_p.I102I			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	306	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I306I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGGTCCTATCCAGTACATGG	0.478																																					Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)ATC>ATT		tripartite motif-containing 69 isoform a							115.0	109.0	111.0					15																	45052027		2198	4298	6496	SO:0001819	synonymous_variant	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45052027C>T	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.918C>T	15.37:g.45052027C>T						TRIM69_uc001zui.1_Silent_p.I102I|TRIM69_uc010bdy.1_Silent_p.I85I|TRIM69_uc001zug.1_Silent_p.I306I|TRIM69_uc001zuh.1_Silent_p.I147I	p.I306I	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	7	1813	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	306			B30.2/SPRY.		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	c.918C>T	CCDS32220.1																																																																																				PASS	0.478	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			20	30	20	30	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45332620	45332620	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:45332620C>T	ENST00000267814.9	+	2	261	c.81C>T	c.(79-81)atC>atT	p.I27I	SORD_ENST00000558580.1_Silent_p.I6I|RP11-109D20.1_ENST00000560324.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	27					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)	p.I27I(1)		endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		ACTATCCTATCCCTGAACCAG	0.323																																						uc001zul.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)ATC>ATT		sorbitol dehydrogenase	NADH(DB00157)						60.0	62.0	61.0					15																	45332620		2198	4295	6493	SO:0001819	synonymous_variant	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45332620C>T		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.81C>T	15.37:g.45332620C>T						SORD_uc010uel.1_RNA|SORD_uc001zum.3_Silent_p.I27I|SORD_uc010bdz.2_5'UTR	p.I27I	NM_003104	NP_003095	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	2	222	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	27					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Silent	SNP	ENST00000267814.9	37	c.81C>T	CCDS10116.1																																																																																				PASS	0.323	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			6	17	6	17	---	---	---	---
SORD	6652	broad.mit.edu	37	15	45353282	45353282	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:45353282G>A	ENST00000267814.9	+	4	463	c.283G>A	c.(283-285)Gag>Aag	p.E95K	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Missense_Mutation_p.E74K	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	95					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)	p.E95K(1)		endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TGTTGCCATCGAGCCTGGTGC	0.537																																						uc001zul.3																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)GAG>AAG		sorbitol dehydrogenase	NADH(DB00157)						93.0	75.0	81.0					15																	45353282		2198	4298	6496	SO:0001583	missense	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45353282G>A		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.283G>A	15.37:g.45353282G>A	ENSP00000267814:p.Glu95Lys					SORD_uc010uel.1_Intron|SORD_uc001zum.3_Missense_Mutation_p.E95K|SORD_uc010bdz.2_Missense_Mutation_p.E16K	p.E95K	NM_003104	NP_003095	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	4	424	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	95					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	c.283G>A	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191023	0.78789	.	.	ENSG00000140263	ENST00000267814	T	0.04970	3.52	4.23	4.23	0.50019	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.962;0.989	T	0.01524	-1.1333	10	0.87932	D	0	-17.373	15.7782	0.78240	0.0:0.0:1.0:0.0	.	16;95	B4DKI2;Q00796	.;DHSO_HUMAN	K	95	ENSP00000267814:E95K	ENSP00000267814:E95K	E	+	1	0	SORD	43140574	1.000000	0.71417	0.967000	0.41034	0.443000	0.32047	9.503000	0.97984	2.184000	0.69523	0.563000	0.77884	GAG		PASS	0.537	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			16	32	16	32	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063453	48063453	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:48063453G>A	ENST00000316364.5	+	19	3132	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E	SEMA6D_ENST00000354744.4_Missense_Mutation_p.G842E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G898E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G823E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G879E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G836E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G836E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G836E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G855E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	898					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G836E(1)|p.G898E(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCCATCATGGGAGACATCCAG	0.493																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2692-2694)GGA>GAA		semaphorin 6D isoform 4 precursor							100.0	88.0	92.0					15																	48063453		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063453G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2693G>A	15.37:g.48063453G>A	ENSP00000324857:p.Gly898Glu					SEMA6D_uc001zvw.2_Missense_Mutation_p.G836E|SEMA6D_uc001zvy.2_Missense_Mutation_p.G898E|SEMA6D_uc001zvz.2_Missense_Mutation_p.G842E|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.G836E|SEMA6D_uc001zwc.2_Missense_Mutation_p.G823E	p.G898E	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3053	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	898			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2693G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	5.240	0.229722	0.09916	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16196	2.36;2.38;2.38;2.37;2.36;2.36;2.36;2.37	6.04	6.04	0.98038	.	0.589102	0.18233	N	0.147511	T	0.10252	0.0251	N	0.08118	0	0.80722	D	1	P;B;P;P	0.39282	0.666;0.377;0.583;0.666	B;B;B;B	0.36666	0.228;0.167;0.169;0.23	T	0.19844	-1.0293	10	0.07325	T	0.83	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	823;842;898;836	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	E	836;898;898;879;855;842;836;823	ENSP00000442040:G836E;ENSP00000446152:G898E;ENSP00000324857:G898E;ENSP00000374084:G879E;ENSP00000374083:G855E;ENSP00000346786:G842E;ENSP00000350770:G836E;ENSP00000374079:G823E	ENSP00000324857:G898E	G	+	2	0	SEMA6D	45850745	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.837000	0.62796	2.873000	0.98535	0.563000	0.77884	GGA		PASS	0.493	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		41	70	41	70	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48426492	48426492	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:48426492C>T	ENST00000341459.3	+	3	412	c.339C>T	c.(337-339)ttC>ttT	p.F113F	SLC24A5_ENST00000449382.2_Silent_p.F53F	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	113					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.F113F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GCACAACTTTCATGGCAGCGG	0.373																																						uc001zwe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(337-339)TTC>TTT		solute carrier family 24, member 5 precursor							160.0	165.0	164.0					15																	48426492		2198	4297	6495	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48426492C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.339C>T	15.37:g.48426492C>T						SLC24A5_uc010bel.2_Silent_p.F53F	p.F113F	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	3	412	+		all_lung(180;0.00217)	113			Helical; Name=2; (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.339C>T	CCDS10128.1																																																																																				PASS	0.373	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		13	51	13	51	---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48458162	48458162	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:48458162C>T	ENST00000324324.7	-	5	772	c.493G>A	c.(493-495)Gat>Aat	p.D165N	MYEF2_ENST00000267836.6_Missense_Mutation_p.D165N	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	165	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D165N(1)|p.D165H(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCACTAAGATCATATTTGTTC	0.279																																						uc001zwi.3																			2	Substitution - Missense(2)	p.D165H(1)	ovary(1)|lung(1)	lung(2)|ovary(1)	3						c.(493-495)GAT>AAT		myelin expression factor 2							59.0	73.0	68.0					15																	48458162		2185	4251	6436	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48458162C>T	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.493G>A	15.37:g.48458162C>T	ENSP00000316950:p.Asp165Asn					MYEF2_uc001zwj.3_Missense_Mutation_p.D165N|MYEF2_uc001zwl.2_Missense_Mutation_p.D5N	p.D165N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	5	617	-		all_lung(180;0.00217)	165			RRM 1.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.493G>A	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238118	0.79800	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.15952	2.38;2.38	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.63169	1.94	0.80722	D	1	B;P	0.37423	0.198;0.594	B;P	0.45276	0.237;0.475	T	0.01356	-1.1376	10	0.54805	T	0.06	-16.1444	19.7302	0.96179	0.0:1.0:0.0:0.0	.	165;165	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	N	165	ENSP00000316950:D165N;ENSP00000267836:D165N	ENSP00000267836:D165N	D	-	1	0	MYEF2	46245454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.726000	0.68515	2.669000	0.90835	0.585000	0.79938	GAT		PASS	0.279	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		18	33	18	33	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48787353	48787353	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:48787353C>A	ENST00000316623.5	-	22	3099	c.2644G>T	c.(2644-2646)Gcg>Tcg	p.A882S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	882	TB 4.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.A882S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTTCCCCACGCAGCACCGAGG	0.527																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2644-2646)GCG>TCG		fibrillin 1 precursor							63.0	53.0	57.0					15																	48787353		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787353C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2644G>T	15.37:g.48787353C>A	ENSP00000325527:p.Ala882Ser						p.A882S	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	22	2972	-		all_lung(180;0.00279)	882			TB 4.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2644G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735251	0.89482	.	.	ENSG00000166147	ENST00000316623	D	0.95518	-3.73	5.72	5.72	0.89469	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	M	0.85197	2.74	0.80722	D	1	D	0.59767	0.986	D	0.81914	0.995	D	0.98225	1.0480	10	0.62326	D	0.03	.	19.4767	0.94992	0.0:1.0:0.0:0.0	.	882	P35555	FBN1_HUMAN	S	882	ENSP00000325527:A882S	ENSP00000325527:A882S	A	-	1	0	FBN1	46574645	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.818000	0.86416	2.690000	0.91761	0.555000	0.69702	GCG		PASS	0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			12	17	12	17	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48903022	48903022	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:48903022G>A	ENST00000316623.5	-	4	704	c.249C>T	c.(247-249)ccC>ccT	p.P83P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	83	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P83P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCGGCAAATGGCTGTGAATA	0.488																																						uc001zwx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(247-249)CCC>CCT		fibrillin 1 precursor							58.0	53.0	54.0					15																	48903022		2197	4296	6493	SO:0001630	splice_region_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48903022G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.248-1C>T	15.37:g.48903022G>A							p.P83P	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	4	577	-		all_lung(180;0.00279)	83			EGF-like 1.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.249C>T	CCDS32232.1																																																																																				PASS	0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Silent	5	21	5	21	---	---	---	---
FGF7	2252	broad.mit.edu	37	15	49716680	49716680	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:49716680G>A	ENST00000267843.4	+	2	797	c.186G>A	c.(184-186)ggG>ggA	p.G62G	FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560270.1_Silent_p.G62G|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	62			G -> E (in dbSNP:rs17850705). {ECO:0000269|PubMed:15489334}.		actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.G62G(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TGGAAGGAGGGGATATAAGAG	0.428																																						uc001zxn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)GGG>GGA		fibroblast growth factor 7 precursor	Palifermin(DB00039)						112.0	108.0	109.0					15																	49716680		2196	4295	6491	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49716680G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.186G>A	15.37:g.49716680G>A						C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron	p.G62G	NM_002009	NP_002000	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	2	715	+		all_lung(180;0.00391)	62					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.186G>A	CCDS10131.1																																																																																				PASS	0.428	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		15	45	15	45	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49882084	49882084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:49882084G>A	ENST00000299338.6	-	4	529	c.226C>T	c.(226-228)Cga>Tga	p.R76*	FAM227B_ENST00000560246.1_Nonsense_Mutation_p.R76*|FAM227B_ENST00000561064.1_Nonsense_Mutation_p.R76*|FAM227B_ENST00000558594.1_Nonsense_Mutation_p.R76*|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	76								p.R76*(1)									TCAAATATTCGAGGAACATTT	0.299																																						uc001zxl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(226-228)CGA>TGA		hypothetical protein LOC196951							62.0	67.0	65.0					15																	49882084		2195	4293	6488	SO:0001587	stop_gained	196951							g.chr15:49882084G>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.226C>T	15.37:g.49882084G>A	ENSP00000299338:p.Arg76*					C15orf33_uc001zxm.2_Nonsense_Mutation_p.R76*	p.R76*	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	4	520	-		all_lung(180;0.00187)	76					Q86WS2	Nonsense_Mutation	SNP	ENST00000299338.6	37	c.226C>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722496	0.68959	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	2.56	0.30785	.	0.630420	0.13342	N	0.395100	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.7798	9.4102	0.38487	0.0:0.0:0.6151:0.3849	.	.	.	.	X	76	.	ENSP00000299338:R76X	R	-	1	2	C15orf33	47669376	0.784000	0.28713	0.022000	0.16811	0.020000	0.10135	1.703000	0.37846	1.270000	0.44297	0.591000	0.81541	CGA		PASS	0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		5	23	5	23	---	---	---	---
USP8	9101	broad.mit.edu	37	15	50769124	50769124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:50769124C>T	ENST00000396444.3	+	9	1266	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	USP8_ENST00000433963.1_Nonsense_Mutation_p.Q310*|USP8_ENST00000425032.3_Nonsense_Mutation_p.Q233*|USP8_ENST00000307179.4_Nonsense_Mutation_p.Q310*	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	310	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.Q310*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTGTTATCCCCAGTATACAAC	0.393																																						uc001zym.3																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(928-930)CAG>TAG		ubiquitin specific peptidase 8							110.0	98.0	102.0					15																	50769124		2196	4294	6490	SO:0001587	stop_gained	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50769124C>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.928C>T	15.37:g.50769124C>T	ENSP00000379721:p.Gln310*					USP8_uc001zyk.1_Silent_p.P9P|USP8_uc001zyl.3_Nonsense_Mutation_p.Q310*|USP8_uc001zyn.3_Nonsense_Mutation_p.Q310*|USP8_uc010ufh.1_Nonsense_Mutation_p.Q233*|USP8_uc010bev.1_Intron	p.Q310*	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	10	1428	+			310			Rhodanese.		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonsense_Mutation	SNP	ENST00000396444.3	37	c.928C>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	37	6.394525	0.97533	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	.	.	.	4.95	4.95	0.65309	.	0.107754	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-12.4783	13.5065	0.61486	0.1563:0.8437:0.0:0.0	.	.	.	.	X	310;310;310;233	.	ENSP00000302239:Q310X	Q	+	1	0	USP8	48556416	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	5.520000	0.67080	2.443000	0.82685	0.460000	0.39030	CAG		PASS	0.393	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		29	42	29	42	---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51687050	51687050	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:51687050G>A	ENST00000335449.6	+	5	616	c.560G>A	c.(559-561)gGa>gAa	p.G187E	GLDN_ENST00000396399.2_Missense_Mutation_p.G63E	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	187	Collagen-like 1.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G187E(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGAGCTGCAGGAAATCCAGGG	0.488																																						uc002aba.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(559-561)GGA>GAA		gliomedin							63.0	58.0	60.0					15																	51687050		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51687050G>A	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.560G>A	15.37:g.51687050G>A	ENSP00000335196:p.Gly187Glu					GLDN_uc002abb.2_Missense_Mutation_p.G63E	p.G187E	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	5	729	+			187			Extracellular (Potential).|Collagen-like 1.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.560G>A	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435164	0.83885	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.99619	-6.28;-6.28	4.81	4.81	0.61882	.	0.000000	0.40908	D	0.000982	D	0.99789	0.9911	H	0.98005	4.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.96923	0.9675	10	0.87932	D	0	.	15.5442	0.76081	0.0:0.0:1.0:0.0	.	187	Q6ZMI3	GLDN_HUMAN	E	187;63;63	ENSP00000335196:G187E;ENSP00000379681:G63E	ENSP00000335196:G187E	G	+	2	0	GLDN	49474342	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.934000	0.75880	2.659000	0.90383	0.650000	0.86243	GGA		PASS	0.488	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		5	19	5	19	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52497304	52497304	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:52497304G>A	ENST00000261839.7	-	38	4739	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1526	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1526S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTCAGGCCGGAAATGCCCT	0.597																																						uc010bff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(4576-4578)TCC>TCT		myosin VC							57.0	63.0	61.0					15																	52497304		1998	4146	6144	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52497304G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4578C>T	15.37:g.52497304G>A						MYO5C_uc010uga.1_RNA|uc002abv.2_RNA	p.S1526S	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	38	4715	-			1526			Dilute.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.4578C>T	CCDS42036.1																																																																																				PASS	0.597	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		15	31	15	31	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52700311	52700311	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:52700311G>A	ENST00000399231.3	-	7	1026	c.783C>T	c.(781-783)atC>atT	p.I261I	MYO5A_ENST00000399233.2_Silent_p.I261I|MYO5A_ENST00000553916.1_Silent_p.I261I|MYO5A_ENST00000356338.6_Silent_p.I261I|MYO5A_ENST00000358212.6_Silent_p.I261I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	261	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.I261I(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCTGATAGAAGATATGATAGT	0.303																																						uc002aby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(781-783)ATC>ATT		myosin VA isoform 1							106.0	99.0	101.0					15																	52700311		1798	4074	5872	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52700311G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.783C>T	15.37:g.52700311G>A						MYO5A_uc002abx.3_Silent_p.I261I|MYO5A_uc010uge.1_Silent_p.I130I	p.I261I	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	7	1027	-			261			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.783C>T	CCDS42037.1																																																																																				PASS	0.303	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		19	43	19	43	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305353	54305353	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:54305353G>A	ENST00000260323.11	+	1	253	c.253G>A	c.(253-255)Gag>Aag	p.E85K	UNC13C_ENST00000545554.1_Missense_Mutation_p.E85K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E85K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	85					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E85K(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCCAGTAAAGAGTTTTCCCT	0.403																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(253-255)GAG>AAG		unc-13 homolog C							62.0	61.0	61.0					15																	54305353		1893	4110	6003	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305353G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.253G>A	15.37:g.54305353G>A	ENSP00000260323:p.Glu85Lys						p.E85K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	253	+			85					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.253G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325142	0.60634	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80824	-1.42;-1.42;-1.42	5.09	5.09	0.68999	.	.	.	.	.	T	0.71048	0.3294	N	0.24115	0.695	0.46458	D	0.999056	P	0.34562	0.457	B	0.31390	0.129	T	0.74827	-0.3532	9	0.72032	D	0.01	.	17.4982	0.87724	0.0:0.0:1.0:0.0	.	85	Q8NB66	UN13C_HUMAN	K	85	ENSP00000260323:E85K;ENSP00000438156:E85K;ENSP00000442569:E85K	ENSP00000260323:E85K	E	+	1	0	UNC13C	52092645	1.000000	0.71417	0.755000	0.31263	0.729000	0.41735	9.785000	0.99042	2.359000	0.80004	0.655000	0.94253	GAG		PASS	0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		16	30	16	30	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307087	54307087	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:54307087G>A	ENST00000260323.11	+	1	1987	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	UNC13C_ENST00000545554.1_Missense_Mutation_p.G663R|UNC13C_ENST00000537900.1_Missense_Mutation_p.G663R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	663					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G663R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGGAATCAAGGAGCTGATTT	0.418																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1987-1989)GGA>AGA		unc-13 homolog C							117.0	113.0	114.0					15																	54307087		1941	4151	6092	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307087G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1987G>A	15.37:g.54307087G>A	ENSP00000260323:p.Gly663Arg						p.G663R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1987	+			663					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1987G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269425	0.23221	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80123	-1.34;-1.34;-1.34	5.26	3.37	0.38596	.	.	.	.	.	T	0.69424	0.3109	N	0.14661	0.345	0.29470	N	0.857118	B	0.31227	0.314	B	0.36464	0.225	T	0.65721	-0.6099	9	0.52906	T	0.07	.	11.3029	0.49318	0.149:0.0:0.851:0.0	.	663	Q8NB66	UN13C_HUMAN	R	663	ENSP00000260323:G663R;ENSP00000438156:G663R;ENSP00000442569:G663R	ENSP00000260323:G663R	G	+	1	0	UNC13C	52094379	1.000000	0.71417	0.001000	0.08648	0.708000	0.40852	6.213000	0.72194	0.778000	0.33520	0.650000	0.86243	GGA		PASS	0.418	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		31	41	31	41	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54307123	54307123	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:54307123G>A	ENST00000260323.11	+	1	2023	c.2023G>A	c.(2023-2025)Ggt>Agt	p.G675S	UNC13C_ENST00000545554.1_Missense_Mutation_p.G675S|UNC13C_ENST00000537900.1_Missense_Mutation_p.G675S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	675					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.G675S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCCAGGAAGGTTTTGATTA	0.393																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(2023-2025)GGT>AGT		unc-13 homolog C							97.0	92.0	93.0					15																	54307123		1871	4120	5991	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307123G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2023G>A	15.37:g.54307123G>A	ENSP00000260323:p.Gly675Ser						p.G675S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2023	+			675					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2023G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	5.600	0.295449	0.10622	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77229	-1.08;-1.08;-1.08	5.02	2.06	0.26882	.	.	.	.	.	T	0.52948	0.1766	N	0.08118	0	0.21740	N	0.999568	B	0.06786	0.001	B	0.09377	0.004	T	0.33650	-0.9860	9	0.09843	T	0.71	.	7.3286	0.26569	0.1565:0.1442:0.6994:0.0	.	675	Q8NB66	UN13C_HUMAN	S	675	ENSP00000260323:G675S;ENSP00000438156:G675S;ENSP00000442569:G675S	ENSP00000260323:G675S	G	+	1	0	UNC13C	52094415	1.000000	0.71417	0.995000	0.50966	0.626000	0.37791	2.245000	0.43133	0.284000	0.22305	0.650000	0.86243	GGT		PASS	0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		15	49	15	49	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54630615	54630615	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:54630615G>A	ENST00000260323.11	+	16	4641	c.4641G>A	c.(4639-4641)agG>agA	p.R1547R	UNC13C_ENST00000545554.1_Silent_p.R1547R|UNC13C_ENST00000537900.1_Silent_p.R1545R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1547					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1547R(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGTGTAAGGGCTTGCCTGG	0.423																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4639-4641)AGG>AGA		unc-13 homolog C							143.0	147.0	146.0					15																	54630615		1898	4110	6008	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630615G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4641G>A	15.37:g.54630615G>A						UNC13C_uc002acl.2_Silent_p.R377R	p.R1547R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4641	+			1547					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4641G>A	CCDS45264.1																																																																																				PASS	0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		36	75	36	75	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54914535	54914535	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:54914535C>T	ENST00000260323.11	+	30	6117	c.6117C>T	c.(6115-6117)tcC>tcT	p.S2039S	UNC13C_ENST00000545554.1_Silent_p.S2039S|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Silent_p.S2037S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2039					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.S2039S(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCGTTCCTCCAAAGATGCCG	0.408																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(6115-6117)TCC>TCT		unc-13 homolog C							112.0	113.0	113.0					15																	54914535		1971	4165	6136	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54914535C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6117C>T	15.37:g.54914535C>T						UNC13C_uc002acm.2_5'UTR	p.S2039S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	6117	+			2039					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.6117C>T	CCDS45264.1																																																																																				PASS	0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		19	56	19	56	---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56958614	56958614	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:56958614G>T	ENST00000267807.7	-	16	2189	c.1973C>A	c.(1972-1974)gCc>gAc	p.A658D	ZNF280D_ENST00000559000.1_Missense_Mutation_p.A645D|ZNF280D_ENST00000559237.1_Missense_Mutation_p.A645D|ZNF280D_ENST00000396245.1_Missense_Mutation_p.A362D	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	658					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.A658D(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATTTACATAGGCTTTGCTACA	0.323																																						uc002adu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1972-1974)GCC>GAC		suppressor of hairy wing homolog 4 isoform 1							100.0	97.0	98.0					15																	56958614		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56958614G>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1973C>A	15.37:g.56958614G>T	ENSP00000267807:p.Ala658Asp					ZNF280D_uc002adv.2_Missense_Mutation_p.A645D|ZNF280D_uc010bfq.2_Missense_Mutation_p.A658D|ZNF280D_uc002adw.1_Missense_Mutation_p.A686D|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	p.A658D	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	16	2190	-			658					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1973C>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261505	0.80358	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.09163	3.01;3.64	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);	1.832520	0.02887	N	0.133594	T	0.39517	0.1081	M	0.76574	2.34	0.43330	D	0.995365	D;D	0.64830	0.994;0.989	P;P	0.62382	0.901;0.901	T	0.01613	-1.1312	10	0.87932	D	0	-7.0717	17.5487	0.87870	0.0:0.0:1.0:0.0	.	721;658	B4DHL1;Q6N043	.;Z280D_HUMAN	D	658;645;362	ENSP00000267807:A658D;ENSP00000379545:A362D	ENSP00000267807:A658D	A	-	2	0	ZNF280D	54745906	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.889000	0.92470	2.450000	0.82876	0.467000	0.42956	GCC		PASS	0.323	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		4	51	4	51	---	---	---	---
CGNL1	84952	broad.mit.edu	37	15	57730805	57730805	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:57730805C>T	ENST00000281282.5	+	2	686	c.608C>T	c.(607-609)cCc>cTc	p.P203L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	203	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.P203L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCTACCAGTCCCTCCTTGGAA	0.478																																						uc002aeg.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(4)|central_nervous_system(1)	11						c.(607-609)CCC>CTC		cingulin-like 1							137.0	138.0	138.0					15																	57730805		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730805C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.608C>T	15.37:g.57730805C>T	ENSP00000281282:p.Pro203Leu					CGNL1_uc010bfw.2_Missense_Mutation_p.P203L	p.P203L	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	684	+			203			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.608C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	6.788	0.514405	0.12944	.	.	ENSG00000128849	ENST00000281282	T	0.05081	3.5	4.76	2.73	0.32206	.	0.718005	0.12108	N	0.498820	T	0.07007	0.0178	L	0.44542	1.39	0.25768	N	0.984864	B	0.13594	0.008	B	0.08055	0.003	T	0.20042	-1.0287	10	0.72032	D	0.01	-3.6767	8.7709	0.34731	0.0:0.8008:0.0:0.1992	.	203	Q0VF96	CGNL1_HUMAN	L	203	ENSP00000281282:P203L	ENSP00000281282:P203L	P	+	2	0	CGNL1	55518097	0.474000	0.25886	0.662000	0.29724	0.107000	0.19398	2.167000	0.42415	1.227000	0.43598	-0.145000	0.13849	CCC		PASS	0.478	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		49	115	49	115	---	---	---	---
AQP9	366	broad.mit.edu	37	15	58467217	58467217	+	Silent	SNP	G	G	A	rs140673133	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:58467217G>A	ENST00000219919.4	+	4	847	c.477G>A	c.(475-477)gcG>gcA	p.A159A	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Silent_p.A159A|AQP9_ENST00000558772.1_Silent_p.A94A	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	159					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.A159A(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATCTCTGGCGAACGCATTTG	0.418																																						uc002aez.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)GCG>GCA		aquaporin 9		G		0,4384		0,0,2192	144.0	131.0	135.0		477	-1.5	0.0	15	dbSNP_134	135	3,8581	3.7+/-12.6	0,3,4289	no	coding-synonymous	AQP9	NM_020980.3		0,3,6481	AA,AG,GG		0.0349,0.0,0.0231		159/296	58467217	3,12965	2192	4292	6484	SO:0001819	synonymous_variant	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58467217G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.477G>A	15.37:g.58467217G>A						ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Silent_p.A94A	p.A159A	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	4	834	+			159			Helical; (Potential).		Q9NP32	Silent	SNP	ENST00000219919.4	37	c.477G>A	CCDS10165.1																																																																																				PASS	0.418	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		13	38	13	38	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59373363	59373363	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:59373363C>T	ENST00000557998.1	+	8	2464	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	RNF111_ENST00000559209.1_Missense_Mutation_p.P726L|RNF111_ENST00000348370.4_Missense_Mutation_p.P726L|RNF111_ENST00000561186.1_Missense_Mutation_p.P726L|RNF111_ENST00000434298.1_Missense_Mutation_p.P726L	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	726	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|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 polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P726L(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CATCTTCCTCCTACACACCAG	0.507																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2176-2178)CCT>CTT		ring finger protein 111							276.0	222.0	240.0					15																	59373363		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373363C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2177C>T	15.37:g.59373363C>T	ENSP00000452732:p.Pro726Leu					RNF111_uc002afs.2_Missense_Mutation_p.P726L|RNF111_uc002aft.2_Missense_Mutation_p.P726L|RNF111_uc002afu.2_Missense_Mutation_p.P725L|RNF111_uc002afw.2_Missense_Mutation_p.P726L|RNF111_uc002afx.2_Missense_Mutation_p.P252L	p.P726L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2456	+			726			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2177C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828517	0.71258	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15139	2.45;2.48	5.4	5.4	0.78164	.	0.169337	0.52532	D	0.000070	T	0.20618	0.0496	L	0.52573	1.65	0.80722	D	1	B;B;B	0.32753	0.383;0.22;0.328	B;B;B	0.29785	0.107;0.036;0.079	T	0.02294	-1.1181	10	0.66056	D	0.02	-8.2138	19.1796	0.93617	0.0:1.0:0.0:0.0	.	726;726;726	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	L	726	ENSP00000288199:P726L;ENSP00000393641:P726L	ENSP00000288199:P726L	P	+	2	0	RNF111	57160655	0.934000	0.31675	0.977000	0.42913	0.959000	0.62525	7.294000	0.78760	2.537000	0.85549	0.467000	0.42956	CCT		PASS	0.507	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		17	37	17	37	---	---	---	---
LDHAL6B	92483	broad.mit.edu	37	15	59499206	59499206	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:59499206T>A	ENST00000307144.4	+	1	165	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	23					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.C23S(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GAATTTCCTATGCCTGGGGAT	0.597																																						uc002agb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TGC>AGC		lactate dehydrogenase A-like 6B	NADH(DB00157)						52.0	48.0	49.0					15																	59499206		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499206T>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.67T>A	15.37:g.59499206T>A	ENSP00000302393:p.Cys23Ser					MYO1E_uc002aga.2_Intron	p.C23S	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	165	+			23					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.67T>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	T	1.447	-0.566013	0.03910	.	.	ENSG00000171989	ENST00000307144	T	0.67523	-0.27	1.49	-2.97	0.05530	.	0.855399	0.09046	U	0.856575	T	0.39384	0.1076	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.34625	-0.9821	10	0.02654	T	1	.	5.2446	0.15490	0.0:0.0:0.6236:0.3763	.	23	Q9BYZ2	LDH6B_HUMAN	S	23	ENSP00000302393:C23S	ENSP00000302393:C23S	C	+	1	0	LDHAL6B	57286498	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	-0.047000	0.11963	-0.315000	0.08703	0.254000	0.18369	TGC		PASS	0.597	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		6	17	6	17	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62255038	62255039	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:62255038_62255039GG>AA	ENST00000261517.5	-	33	3417_3418	c.3344_3345CC>TT	c.(3343-3345)tCC>tTT	p.S1115F	VPS13C_ENST00000395896.4_Missense_Mutation_p.S1115F|VPS13C_ENST00000249837.3_Missense_Mutation_p.S1072F|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1072F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S1115F(4)|p.S1115S(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGAGAGAAAGGGAGGAATCCAG	0.337																																						uc002agz.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)	2						c.(3343-3345)TCC>TCT|c.(3343-3345)TCC>TTC		vacuolar protein sorting 13C protein isoform 2A																																				SO:0001583	missense	54832				protein localization			g.chr15:62255038G>A|g.chr15:62255039G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3344_3345delinsAA	15.37:g.62255038_62255039delinsAA	ENSP00000261517:p.Ser1115Phe					VPS13C_uc002aha.2_Silent_p.S1072S|VPS13C_uc002ahb.1_Silent_p.S1115S|VPS13C_uc002ahc.1_Silent_p.S1072S|VPS13C_uc002aha.2_Missense_Mutation_p.S1072F|VPS13C_uc002ahb.1_Missense_Mutation_p.S1115F|VPS13C_uc002ahc.1_Missense_Mutation_p.S1072F	p.S1115S|p.S1115F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			33	3419|3418	-			1115						Silent|Missense_Mutation	SNP	ENST00000261517.5	37	c.3345C>T|c.3344C>T	CCDS32257.1																																																																																				PASS	0.337	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	23	10	23	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62266527	62266527	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:62266527G>A	ENST00000261517.5	-	25	2571	c.2498C>T	c.(2497-2499)cCt>cTt	p.P833L	VPS13C_ENST00000395896.4_Missense_Mutation_p.P833L|VPS13C_ENST00000249837.3_Missense_Mutation_p.P790L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P790L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.P833L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGTGGCAAAGGTATACTGTT	0.343																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2497-2499)CCT>CTT		vacuolar protein sorting 13C protein isoform 2A							125.0	120.0	122.0					15																	62266527		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62266527G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2498C>T	15.37:g.62266527G>A	ENSP00000261517:p.Pro833Leu					VPS13C_uc002aha.2_Missense_Mutation_p.P790L|VPS13C_uc002ahb.1_Missense_Mutation_p.P833L|VPS13C_uc002ahc.1_Missense_Mutation_p.P790L	p.P833L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			25	2572	-			833						Missense_Mutation	SNP	ENST00000261517.5	37	c.2498C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978137	0.92982	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.66995	-0.24;-0.24;-0.24	5.01	5.01	0.66863	.	0.061234	0.64402	D	0.000003	D	0.82921	0.5142	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.998;1.0;0.988;1.0	T	0.80661	-0.1283	10	0.27785	T	0.31	.	19.1942	0.93681	0.0:0.0:1.0:0.0	.	790;833;790;833	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	790;833;833;833	ENSP00000249837:P790L;ENSP00000261517:P833L;ENSP00000379233:P833L	ENSP00000249837:P790L	P	-	2	0	VPS13C	60053819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.540000	0.90641	2.697000	0.92050	0.585000	0.79938	CCT		PASS	0.343	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		17	36	17	36	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63044536	63044536	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:63044536G>A	ENST00000561311.1	+	34	4472	c.4242G>A	c.(4240-4242)caG>caA	p.Q1414Q	TLN2_ENST00000306829.6_Silent_p.Q1414Q			Q9Y4G6	TLN2_HUMAN	talin 2	1414					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q1414Q(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGATTTCACAGAATGCCAAGA	0.547																																						uc002alb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4240-4242)CAG>CAA		talin 2							187.0	176.0	180.0					15																	63044536		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63044536G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4242G>A	15.37:g.63044536G>A						TLN2_uc002alc.3_5'UTR	p.Q1414Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			32	4242	+			1414					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.4242G>A	CCDS32261.1																																																																																				PASS	0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			25	69	25	69	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63958598	63958598	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:63958598C>A	ENST00000443617.2	-	41	8367	c.8280G>T	c.(8278-8280)atG>atT	p.M2760I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2760					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.M2760I(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGAGAACCCCATTTCCAGCA	0.423																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(8278-8280)ATG>ATT		hect domain and RCC1-like domain 1							112.0	106.0	108.0					15																	63958598		1837	4103	5940	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63958598C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8280G>T	15.37:g.63958598C>A	ENSP00000390158:p.Met2760Ile						p.M2760I	NM_003922	NP_003913	Q15751	HERC1_HUMAN			41	8428	-			2760					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.8280G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881310	0.91740	.	.	ENSG00000103657	ENST00000443617	T	0.36340	1.26	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	L	0.54323	1.7	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.54997	-0.8209	10	0.87932	D	0	.	19.4859	0.95028	0.0:1.0:0.0:0.0	.	2760	Q15751	HERC1_HUMAN	I	2760	ENSP00000390158:M2760I	ENSP00000390158:M2760I	M	-	3	0	HERC1	61745651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.587000	0.82613	2.680000	0.91292	0.655000	0.94253	ATG		PASS	0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	84	5	84	---	---	---	---
FAM96A	84191	broad.mit.edu	37	15	64365189	64365189	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:64365189C>A	ENST00000300030.3	-	5	673	c.424G>T	c.(424-426)Gca>Tca	p.A142S	FAM96A_ENST00000558779.1_5'UTR|FAM96A_ENST00000380290.3_3'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	142					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A142S(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTTTCCATTGCAGCTGCCACT	0.408																																						uc002amt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GCA>TCA		family with sequence similarity 96, member A							147.0	124.0	132.0					15																	64365189		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64365189C>A		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.424G>T	15.37:g.64365189C>A	ENSP00000300030:p.Ala142Ser					FAM96A_uc002amu.1_3'UTR	p.A142S	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN			5	664	-			142					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.424G>T	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167089	0.94768	.	.	ENSG00000166797	ENST00000300030	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	H	0.94183	3.505	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.90124	0.4201	9	0.87932	D	0	-8.1707	16.9923	0.86357	0.0:1.0:0.0:0.0	.	142	Q9H5X1	FA96A_HUMAN	S	142	.	ENSP00000300030:A142S	A	-	1	0	FAM96A	62152242	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	7.406000	0.80017	2.602000	0.87976	0.655000	0.94253	GCA		PASS	0.408	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1	NM_032231		8	36	8	36	---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64497066	64497066	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:64497066G>A	ENST00000303052.7	-	8	1271	c.848C>T	c.(847-849)cCa>cTa	p.P283L	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.P283L|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.P283L|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.P265L	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P283L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CATCCCACCTGGAAAGTTCTC	0.408																																						uc002anf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(847-849)CCA>CTA		casein kinase 1, gamma 1							125.0	114.0	118.0					15																	64497066		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64497066G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.848C>T	15.37:g.64497066G>A	ENSP00000305777:p.Pro283Leu					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.P283L|CSNK1G1_uc002anh.1_Missense_Mutation_p.P283L|CSNK1G1_uc002anj.2_Missense_Mutation_p.P265L	p.P283L	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			8	1328	-			283			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.848C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	36	5.655616	0.96724	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.44083	0.93;0.93	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.81645	-0.0839	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	141;283;283;283	Q9H5M4;Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;.;KC1G1_HUMAN	L	283;239;283	ENSP00000305777:P283L;ENSP00000307753:P283L	ENSP00000307753:P283L	P	-	2	0	CSNK1G1	62284119	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.408	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		8	29	8	29	---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65110521	65110521	+	Missense_Mutation	SNP	G	G	A	rs377391279		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:65110521G>A	ENST00000268043.4	-	10	1557	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L	PIF1_ENST00000333425.6_Missense_Mutation_p.S488L|PIF1_ENST00000559239.1_Missense_Mutation_p.S488L					PIF1 5'-to-3' DNA helicase									p.S488L(1)		kidney(1)|lung(1)	2						CCGAGACACCGATAAGTTTTT	0.587																																						uc002ant.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)TCG>TTG		DNA helicase homolog PIF1		G	LEU/SER	1,4403	2.1+/-5.4	0,1,2201	129.0	103.0	112.0		1463	5.4	0.3	15		112	0,8598		0,0,4299	no	missense	PIF1	NM_025049.2	145	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	488/642	65110521	1,13001	2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65110521G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1463C>T	15.37:g.65110521G>A	ENSP00000268043:p.Ser488Leu					PIF1_uc002anr.2_Missense_Mutation_p.S36L|PIF1_uc002ans.2_Missense_Mutation_p.S179L|PIF1_uc010uiq.1_Missense_Mutation_p.S488L	p.S488L	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			10	1529	-			488			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1463C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061055	0.55432	2.27E-4	0.0	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.77620	-1.11;-1.11	5.42	5.42	0.78866	.	0.095798	0.64402	D	0.000002	T	0.71341	0.3328	L	0.50333	1.59	0.28392	N	0.91902	B	0.30605	0.287	B	0.27887	0.084	T	0.70510	-0.4852	10	0.72032	D	0.01	-15.5019	11.7687	0.51945	0.0:0.0:0.8242:0.1758	.	488	Q9H611	PIF1_HUMAN	L	488	ENSP00000268043:S488L;ENSP00000328174:S488L	ENSP00000268043:S488L	S	-	2	0	PIF1	62897574	1.000000	0.71417	0.313000	0.25210	0.668000	0.39293	6.482000	0.73613	2.539000	0.85634	0.561000	0.74099	TCG		PASS	0.587	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		8	23	8	23	---	---	---	---
PLEKHO2	80301	broad.mit.edu	37	15	65157114	65157114	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:65157114C>T	ENST00000323544.4	+	6	628	c.500C>T	c.(499-501)tCt>tTt	p.S167F	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	167								p.S167F(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTGCAGCTTCTGACGGTCTT	0.582																																						uc002anv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(499-501)TCT>TTT		pleckstrin homology domain containing, family O							90.0	84.0	86.0					15																	65157114		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157114C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.500C>T	15.37:g.65157114C>T	ENSP00000326706:p.Ser167Phe					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.S117F	p.S167F	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	634	+			167					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.500C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954890	0.73902	.	.	ENSG00000241839	ENST00000323544;ENST00000546008	T	0.29397	1.57	5.64	5.64	0.86602	.	0.625137	0.16844	N	0.197224	T	0.46425	0.1392	L	0.29908	0.895	0.47737	D	0.999503	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41610	-0.9499	10	0.87932	D	0	.	16.8629	0.86022	0.0:1.0:0.0:0.0	.	117;167	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	F	167	ENSP00000326706:S167F	ENSP00000326706:S167F	S	+	2	0	PLEKHO2	62944167	0.999000	0.42202	0.968000	0.41197	0.771000	0.43674	5.676000	0.68131	2.654000	0.90174	0.563000	0.77884	TCT		PASS	0.582	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		15	60	15	60	---	---	---	---
CLPX	10845	broad.mit.edu	37	15	65458972	65458972	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:65458972C>T	ENST00000300107.3	-	4	698	c.510G>A	c.(508-510)aaG>aaA	p.K170K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	170					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)	p.K170K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CTTATACCTTCTTAGGGGGAG	0.373																																						uc002aom.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)AAG>AAA		ClpX caseinolytic protease X homolog precursor							195.0	193.0	194.0					15																	65458972		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65458972C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.510G>A	15.37:g.65458972C>T						CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Silent_p.K170K	p.K170K	NM_006660	NP_006651	O76031	CLPX_HUMAN			4	582	-			170					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.510G>A	CCDS10202.1																																																																																				PASS	0.373	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		18	66	18	66	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65621935	65621935	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:65621935C>T	ENST00000327987.4	-	13	2249	c.1998G>A	c.(1996-1998)agG>agA	p.R666R	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	666					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.R666R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGGAGGACCCTAAGGGTTA	0.597																																						uc002aos.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1996-1998)AGG>AGA		putative neuronal cell adhesion molecule							40.0	44.0	43.0					15																	65621935		2201	4299	6500	SO:0001630	splice_region_variant	9543							g.chr15:65621935C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1998-1G>A	15.37:g.65621935C>T						IGDCC3_uc002aor.1_5'UTR	p.R666R	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN			13	2250	-			666			Cytoplasmic (Potential).		O95215	Silent	SNP	ENST00000327987.4	37	c.1998G>A	CCDS10205.1																																																																																				PASS	0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	Silent	14	19	14	19	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65680880	65680880	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:65680880G>A	ENST00000352385.2	-	16	2961	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	918	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R918W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AAGAAGTACCGAGTGTCGCTC	0.612																																						uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2752-2754)CGG>TGG		immunoglobulin superfamily, DCC subclass, member							102.0	94.0	97.0					15																	65680880		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65680880G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2752C>T	15.37:g.65680880G>A	ENSP00000319623:p.Arg918Trp					IGDCC4_uc002aot.1_Missense_Mutation_p.R506W	p.R918W	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			16	2962	-			918			Extracellular (Potential).|Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2752C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332356	0.60853	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.57907	0.37	5.16	-1.89	0.07689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.151430	0.47852	D	0.000204	T	0.66147	0.2760	M	0.61703	1.905	0.26832	N	0.968569	D	0.89917	1.0	D	0.80764	0.994	T	0.65928	-0.6049	10	0.54805	T	0.06	-22.7504	16.1648	0.81747	0.0:0.0:0.6313:0.3687	.	918	Q8TDY8	IGDC4_HUMAN	W	918;647	ENSP00000319623:R918W	ENSP00000319623:R918W	R	-	1	2	IGDCC4	63467933	0.502000	0.26107	0.020000	0.16555	0.927000	0.56198	0.776000	0.26704	-0.642000	0.05480	-0.397000	0.06425	CGG		PASS	0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		31	68	31	68	---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66223281	66223281	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:66223281C>T	ENST00000409699.2	-	11	1460	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	MEGF11_ENST00000360698.4_Splice_Site_p.G430R|MEGF11_ENST00000288745.3_Splice_Site_p.G355R|MEGF11_ENST00000422354.1_Splice_Site_p.G430R|MEGF11_ENST00000395625.2_Splice_Site_p.G355R|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	430	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G430R(2)|p.G355R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGACCTCTCCCTGGAAAGGG	0.557																																						uc002apm.2																			4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(1288-1290)GGA>AGA		multiple EGF-like-domains 11 precursor							54.0	40.0	45.0					15																	66223281		2201	4299	6500	SO:0001630	splice_region_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66223281C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1288-1G>A	15.37:g.66223281C>T						MEGF11_uc002apl.2_Missense_Mutation_p.G355R|MEGF11_uc002apn.1_Missense_Mutation_p.G430R	p.G430R	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			11	1429	-			430			EGF-like 7.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.1288G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965504	0.74131	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.13	5.13	0.70059	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.41294	U	0.000905	D	0.92485	0.7614	H	0.99924	4.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96400	0.9296	10	0.87932	D	0	.	18.6026	0.91255	0.0:1.0:0.0:0.0	.	430;355	A6BM72;A6BM72-2	MEG11_HUMAN;.	R	430;355;430;355;430;134	ENSP00000386908:G430R;ENSP00000288745:G355R;ENSP00000414475:G430R;ENSP00000378987:G355R;ENSP00000353919:G430R;ENSP00000401400:G134R	ENSP00000288745:G355R	G	-	1	0	MEGF11	64010335	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	5.613000	0.67688	2.378000	0.81104	0.561000	0.74099	GGA		PASS	0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	Missense_Mutation	9	14	9	14	---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66416238	66416238	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:66416238G>A	ENST00000409699.2	-	3	371	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	MEGF11_ENST00000360698.4_Splice_Site_p.R67W|MEGF11_ENST00000288745.3_Splice_Site_p.T25T|MEGF11_ENST00000422354.1_Splice_Site_p.R67W|MEGF11_ENST00000395625.2_Splice_Site_p.T25T|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	67	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T25T(1)|p.R67W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGTACTCACCGGTGCCTGGTG	0.527																																						uc002apm.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	pancreas(1)	1						c.(199-201)CGG>TGG		multiple EGF-like-domains 11 precursor							175.0	130.0	145.0					15																	66416238		2201	4299	6500	SO:0001630	splice_region_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66416238G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.200+1C>T	15.37:g.66416238G>A						MEGF11_uc002apl.2_Silent_p.T25T|MEGF11_uc002apn.1_Missense_Mutation_p.R67W	p.R67W	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			3	340	-			67			EMI.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.199C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254917	0.80135	.	.	ENSG00000157890	ENST00000409699;ENST00000422354;ENST00000360698	D;D;D	0.89123	-2.47;-2.47;-2.44	5.65	3.72	0.42706	EMI domain (1);	.	.	.	.	D	0.92077	0.7489	L	0.51422	1.61	0.52501	D	0.999959	D	0.89917	1.0	D	0.91635	0.999	D	0.91831	0.5475	9	0.72032	D	0.01	.	13.2111	0.59825	0.0:0.0:0.4494:0.5506	.	67	A6BM72	MEG11_HUMAN	W	67	ENSP00000386908:R67W;ENSP00000414475:R67W;ENSP00000353919:R67W	ENSP00000353919:R67W	R	-	1	2	MEGF11	64203292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.624000	0.46444	0.692000	0.31613	0.561000	0.74099	CGG		PASS	0.527	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	Missense_Mutation	24	37	24	37	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66845452	66845452	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:66845452G>A	ENST00000341509.5	-	9	1198	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	LCTL_ENST00000537670.1_Missense_Mutation_p.S183F	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	356					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S356F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCTGGCGGGAGGGGTAGTT	0.502																																						uc002aqc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1066-1068)TCC>TTC		lactase-like precursor							117.0	114.0	115.0					15																	66845452		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66845452G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1067C>T	15.37:g.66845452G>A	ENSP00000343490:p.Ser356Phe					LCTL_uc002aqd.3_Missense_Mutation_p.S183F|LCTL_uc010bhw.2_Missense_Mutation_p.S54F	p.S356F	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			9	1199	-			356			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.1067C>T	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647811	0.29336	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.52057	0.68;1.55	5.51	4.6	0.57074	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.215254	0.49916	N	0.000125	T	0.41026	0.1141	L	0.41961	1.31	0.53005	D	0.99996	B;B	0.22746	0.074;0.074	B;B	0.27380	0.079;0.073	T	0.33214	-0.9877	10	0.51188	T	0.08	-25.2525	10.4254	0.44375	0.1665:0.0:0.8335:0.0	.	183;356	B3KQY0;Q6UWM7	.;LCTL_HUMAN	F	183;356	ENSP00000445419:S183F;ENSP00000343490:S356F	ENSP00000343490:S356F	S	-	2	0	LCTL	64632506	0.964000	0.33143	0.511000	0.27724	0.171000	0.22731	3.363000	0.52321	1.467000	0.48044	-0.126000	0.14955	TCC		PASS	0.502	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		24	58	24	58	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68617468	68617468	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:68617468C>T	ENST00000315757.7	-	18	2409		c.e18+1		ITGA11_ENST00000423218.2_Splice_Site	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCGAGATGTACCGAGACTCTG	0.622																																						uc002ari.2																			1	Unknown(1)		lung(1)	kidney(2)|pancreas(1)	3						c.e18+1		integrin, alpha 11 precursor	Tirofiban(DB00775)						71.0	75.0	73.0					15																	68617468		2114	4229	6343	SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68617468C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2322+1G>A	15.37:g.68617468C>T						ITGA11_uc010bib.2_Splice_Site_p.S774_splice	p.S774_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			18	2409	-								J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	c.2322_splice	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940421	0.73557	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8871	0.86078	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA11	66404522	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	5.975000	0.70475	2.233000	0.73108	0.561000	0.74099	.		PASS	0.622	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Intron	11	16	11	16	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69339854	69339854	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:69339854C>T	ENST00000388866.3	+	12	1835	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000455873.3_Silent_p.S563S|NOX5_ENST00000260364.5_Silent_p.S580S|NOX5_ENST00000448182.3_Silent_p.S552S|NOX5_ENST00000530406.2_Silent_p.S570S	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	598					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.S580S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCTTTGCTTCCATTCTGCAGA	0.597																																						uc002ars.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1792-1794)TCC>TCT		NADPH oxidase, EF-hand calcium binding domain 5							108.0	101.0	103.0					15																	69339854		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69339854C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1794C>T	15.37:g.69339854C>T						NOX5_uc002arp.1_Silent_p.S580S|NOX5_uc002arq.1_Silent_p.S552S|NOX5_uc010bid.1_Silent_p.S563S|NOX5_uc002arr.1_Silent_p.S570S|NOX5_uc010bie.1_Silent_p.S398S|NOX5_uc010bif.1_RNA	p.S598S	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			12	1814	+			598			Helical; (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1794C>T	CCDS32276.2																																																																																				PASS	0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		12	18	12	18	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69341321	69341321	+	Missense_Mutation	SNP	G	G	A	rs368219978		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:69341321G>A	ENST00000388866.3	+	14	1963	c.1922G>A	c.(1921-1923)aGa>aAa	p.R641K	NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000455873.3_Missense_Mutation_p.R606K|NOX5_ENST00000260364.5_Missense_Mutation_p.R623K|NOX5_ENST00000448182.3_Missense_Mutation_p.R595K|NOX5_ENST00000530406.2_Missense_Mutation_p.R613K	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	641					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R623K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGGATCAACAGAGACCAGCGG	0.562																																						uc002ars.1																			1	Substitution - Missense(1)	p.D641H(1)	lung(1)	breast(1)|pancreas(1)	2						c.(1921-1923)AGA>AAA		NADPH oxidase, EF-hand calcium binding domain 5							67.0	58.0	61.0					15																	69341321		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69341321G>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1922G>A	15.37:g.69341321G>A	ENSP00000373518:p.Arg641Lys					NOX5_uc002arp.1_Missense_Mutation_p.R623K|NOX5_uc002arq.1_Missense_Mutation_p.R595K|NOX5_uc010bid.1_Missense_Mutation_p.R606K|NOX5_uc002arr.1_Missense_Mutation_p.R613K|NOX5_uc010bie.1_Missense_Mutation_p.R441K|NOX5_uc010bif.1_RNA	p.R641K	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			14	1942	+			641			Extracellular (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1922G>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607821	0.66558	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.96459	-4.02;-4.02;-4.02	3.42	2.45	0.29901	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000001	D	0.97269	0.9107	M	0.72576	2.205	0.46749	D	0.999181	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.913;0.998;0.996	D	0.96169	0.9121	10	0.54805	T	0.06	-3.4103	10.8942	0.47012	0.0:0.1934:0.8066:0.0	.	606;641;613	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	K	606;623;641;613	ENSP00000416828:R606K;ENSP00000373518:R641K;ENSP00000432440:R613K	ENSP00000373518:R641K	R	+	2	0	NOX5	67128375	1.000000	0.71417	0.959000	0.39883	0.586000	0.36452	4.356000	0.59430	0.391000	0.25143	0.195000	0.17529	AGA		PASS	0.562	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		6	18	6	18	---	---	---	---
TMEM202	338949	broad.mit.edu	37	15	72700100	72700100	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:72700100C>T	ENST00000341689.3	+	5	742	c.688C>T	c.(688-690)Cca>Tca	p.P230S	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	230						integral component of membrane (GO:0016021)		p.P230S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACTGTGATTCCAACAGAGAG	0.478																																						uc002auq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(688-690)CCA>TCA		transmembrane protein 202							90.0	87.0	88.0					15																	72700100		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72700100C>T		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.688C>T	15.37:g.72700100C>T	ENSP00000340212:p.Pro230Ser					TMEM202_uc002aur.2_RNA	p.P230S	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			5	688	+			230						Missense_Mutation	SNP	ENST00000341689.3	37	c.688C>T	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418440	0.62622	.	.	ENSG00000187806	ENST00000341689	T	0.51325	0.71	4.61	4.61	0.57282	.	0.136943	0.33980	N	0.004366	T	0.60418	0.2267	L	0.55481	1.735	0.53005	D	0.999965	D	0.76494	0.999	D	0.67548	0.952	T	0.59484	-0.7446	10	0.44086	T	0.13	-22.3705	12.8119	0.57645	0.0:1.0:0.0:0.0	.	230	A6NGA9	TM202_HUMAN	S	230	ENSP00000340212:P230S	ENSP00000340212:P230S	P	+	1	0	TMEM202	70487154	0.011000	0.17503	0.093000	0.20910	0.104000	0.19210	1.667000	0.37471	2.389000	0.81357	0.561000	0.74099	CCA		PASS	0.478	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		16	38	16	38	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72953606	72953606	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:72953606C>T	ENST00000421285.3	+	8	566	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	189						Golgi apparatus (GO:0005794)		p.S189F(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACCATCCAGTCCTCGAGCTGC	0.557																																						uc010uks.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)TCC>TTC		golgi autoantigen, golgin subfamily a, 6B							79.0	92.0	87.0					15																	72953606		1477	2641	4118	SO:0001630	splice_region_variant	55889							g.chr15:72953606C>T		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.565-1C>T	15.37:g.72953606C>T							p.S189F	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN			8	607	+			189			Potential.		A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.566C>T	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.216	-1.032818	0.02029	.	.	ENSG00000215186	ENST00000421285	T	0.12569	2.67	0.39	-0.781	0.10965	.	.	.	.	.	T	0.13030	0.0316	N	0.17723	0.515	0.09310	N	1	D	0.58970	0.984	D	0.63877	0.919	T	0.16512	-1.0400	9	0.10111	T	0.7	.	3.7629	0.08611	0.0:0.3433:0.0:0.6567	.	189	A6NDN3	GOG6B_HUMAN	F	189	ENSP00000408132:S189F	ENSP00000408132:S189F	S	+	2	0	GOLGA6B	70740660	1.000000	0.71417	0.016000	0.15963	0.027000	0.11550	1.130000	0.31393	-0.416000	0.07473	0.134000	0.15878	TCC		PASS	0.557	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	Missense_Mutation	14	30	14	30	---	---	---	---
C15orf59	388135	broad.mit.edu	37	15	74032779	74032779	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:74032779G>A	ENST00000569673.1	-	3	1565	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	C15orf59_ENST00000379822.4_Missense_Mutation_p.P121S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	121								p.P121S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGTCCGAGGGGGTAGAGACG	0.637																																						uc002avy.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(361-363)CCC>TCC		hypothetical protein LOC388135							79.0	84.0	82.0					15																	74032779		2198	4296	6494	SO:0001583	missense	388135							g.chr15:74032779G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.361C>T	15.37:g.74032779G>A	ENSP00000457205:p.Pro121Ser						p.P121S	NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN			2	706	-			121						Missense_Mutation	SNP	ENST00000569673.1	37	c.361C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617532	0.87359	.	.	ENSG00000205363	ENST00000379822	T	0.55930	0.49	5.15	5.15	0.70609	.	0.120124	0.56097	D	0.000029	T	0.66925	0.2839	L	0.51422	1.61	0.54753	D	0.999988	D	0.65815	0.995	D	0.63877	0.919	T	0.69793	-0.5049	10	0.72032	D	0.01	.	18.2	0.89834	0.0:0.0:1.0:0.0	.	121	Q2T9L4	CO059_HUMAN	S	121	ENSP00000369150:P121S	ENSP00000369150:P121S	P	-	1	0	C15orf59	71819832	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	8.413000	0.90235	2.388000	0.81334	0.561000	0.74099	CCC		PASS	0.637	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		20	60	20	60	---	---	---	---
GOLGA6A	342096	broad.mit.edu	37	15	74372960	74372960	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:74372960C>T	ENST00000290438.3	-	2	241	c.201G>A	c.(199-201)ggG>ggA	p.G67G		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	67						Golgi apparatus (GO:0005794)		p.G67G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GACTCACATCCCCAGGTGAGT	0.527																																						uc002axa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)GGG>GGA		golgi autoantigen, golgin subfamily a, 6							28.0	27.0	27.0					15																	74372960		2195	4274	6469	SO:0001819	synonymous_variant	342096							g.chr15:74372960C>T	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.201G>A	15.37:g.74372960C>T							p.G67G	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			2	242	-			67			Potential.		A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	c.201G>A	CCDS32290.1																																																																																				PASS	0.527	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		8	89	8	89	---	---	---	---
ISLR2	57611	broad.mit.edu	37	15	74426484	74426485	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:74426484_74426485CC>TT	ENST00000361742.3	+	4	2158_2159	c.1389_1390CC>TT	c.(1387-1392)gaCCcc>gaTTcc	p.P464S	ISLR2_ENST00000453268.2_Missense_Mutation_p.P464S|ISLR2_ENST00000435464.1_Missense_Mutation_p.P464S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P464S|ISLR2_ENST00000445793.1_Missense_Mutation_p.P464S|ISLR2_ENST00000565159.1_Missense_Mutation_p.P464S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P464S|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	464					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P464S(2)|p.D463D(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCAACGGGGACCCCTCTCGGTA	0.658																																						uc002axd.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1387-1389)GAC>GAT|c.(1390-1392)CCC>TCC		immunoglobulin superfamily containing																																				SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426484C>T|g.chr15:74426485C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	Exception_encountered	15.37:g.74426484_74426485delinsTT	ENSP00000355402:p.Pro464Ser					ISLR2_uc002axe.2_Silent_p.D463D|ISLR2_uc010bjg.2_Silent_p.D463D|ISLR2_uc010bjf.2_Silent_p.D463D|ISLR2_uc002axe.2_Missense_Mutation_p.P464S|ISLR2_uc010bjg.2_Missense_Mutation_p.P464S|ISLR2_uc010bjf.2_Missense_Mutation_p.P464S	p.D463D|p.P464S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2158|2159	+			463|464			Extracellular (Potential).		A8K352|Q9P263	Silent|Missense_Mutation	SNP	ENST00000361742.3	37	c.1389C>T|c.1390C>T	CCDS10259.1																																																																																				PASS	0.658	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		4	11	4	11	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74564127	74564127	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:74564127G>A	ENST00000398814.3	+	6	1061	c.630G>A	c.(628-630)aaG>aaA	p.K210K	CCDC33_ENST00000321288.5_Silent_p.K413K	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	413								p.K413K(1)|p.K210K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCAACTACAAGGAATTTAAGT	0.597																																						uc002axo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(628-630)AAG>AAA		coiled-coil domain containing 33 isoform 1							46.0	47.0	46.0					15																	74564127		1929	4131	6060	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74564127G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.630G>A	15.37:g.74564127G>A						CCDC33_uc002axp.2_Silent_p.K32K	p.K210K	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			6	1024	+			413					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.630G>A	CCDS42058.1																																																																																				PASS	0.597	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		7	9	7	9	---	---	---	---
SEMA7A	8482	broad.mit.edu	37	15	74704319	74704319	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:74704319C>T	ENST00000261918.4	-	11	1877	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G	SEMA7A_ENST00000542748.1_Silent_p.G278G|SEMA7A_ENST00000543145.2_Silent_p.G429G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	443	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G443G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCCTGCTCCCCCGGTTCCA	0.632																																						uc002axv.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1327-1329)GGG>GGA		semaphorin 7A isoform 1 preproprotein							115.0	78.0	90.0					15																	74704319		2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74704319C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1329G>A	15.37:g.74704319C>T						SEMA7A_uc010ulk.1_Silent_p.G278G|SEMA7A_uc010ull.1_Silent_p.G429G	p.G443G	NM_003612	NP_003603	O75326	SEM7A_HUMAN			11	1369	-			443			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1329G>A	CCDS10262.1																																																																																				PASS	0.632	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		8	31	8	31	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75013790	75013790	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:75013790T>C	ENST00000379727.3	-	4	1205	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S	CYP1A1_ENST00000567032.1_Missense_Mutation_p.N336S|CYP1A1_ENST00000395049.4_Missense_Mutation_p.N336S|CYP1A1_ENST00000395048.2_Missense_Mutation_p.N336S|CYP1A1_ENST00000564596.1_Missense_Mutation_p.N75S			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	336					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.N336S(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TACCCTGGGGTTCATCACCAA	0.552									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1006-1008)AAC>AGC		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						97.0	84.0	88.0					15																	75013790		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75013790T>C	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1007A>G	15.37:g.75013790T>C	ENSP00000369050:p.Asn336Ser					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.N72S|CYP1A1_uc010bjx.2_Missense_Mutation_p.N72S|CYP1A1_uc002ayq.3_Missense_Mutation_p.N336S|CYP1A1_uc010bjy.2_Missense_Mutation_p.N336S|CYP1A1_uc010bjz.1_Missense_Mutation_p.N72S	p.N336S	NM_000499	NP_000490	P04798	CP1A1_HUMAN			4	1129	-			336					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1007A>G	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	T	3.828	-0.036444	0.07497	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	D;D;D	0.81579	-1.51;-1.51;-1.51	5.17	-1.23	0.09465	.	0.549031	0.22456	N	0.059836	T	0.76126	0.3944	M	0.78916	2.43	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.14023	0.01;0.01	T	0.61594	-0.7031	10	0.15066	T	0.55	.	13.17	0.59593	0.0:0.1062:0.0:0.8938	.	336;336	E7EMT5;P04798	.;CP1A1_HUMAN	S	336;336;336;308	ENSP00000369050:N336S;ENSP00000378488:N336S;ENSP00000378489:N336S	ENSP00000268062:N308S	N	-	2	0	CYP1A1	72800843	0.903000	0.30736	0.008000	0.14137	0.005000	0.04900	0.635000	0.24629	-0.197000	0.10350	0.533000	0.62120	AAC		PASS	0.552	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		19	33	19	33	---	---	---	---
CYP1A2	1544	broad.mit.edu	37	15	75042389	75042389	+	Missense_Mutation	SNP	G	G	A	rs34067076	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:75042389G>A	ENST00000343932.4	+	2	373	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	104			D -> N (in dbSNP:rs34067076). {ECO:0000269|Ref.7}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.D104N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GCAGGGCGACGATTTCAAGGG	0.672													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17474	0.0		0.002	False		,,,				2504	0.0					uc002ayr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(310-312)GAT>AAT		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	G	ASN/ASP	4,4390	8.1+/-20.4	0,4,2193	48.0	44.0	45.0		310	3.9	0.4	15	dbSNP_126	45	8,8582	7.1+/-27.0	0,8,4287	yes	missense	CYP1A2	NM_000761.3	23	0,12,6480	AA,AG,GG		0.0931,0.091,0.0924	probably-damaging	104/517	75042389	12,12972	2197	4295	6492	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042389G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.310G>A	15.37:g.75042389G>A	ENSP00000342007:p.Asp104Asn						p.D104N	NM_000761	NP_000752	P05177	CP1A2_HUMAN			2	374	+			104					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.310G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866937	0.51588	9.1E-4	9.31E-4	ENSG00000140505	ENST00000343932	T	0.69435	-0.4	4.83	3.91	0.45181	.	0.167981	0.56097	D	0.000027	T	0.80660	0.4665	M	0.76002	2.32	0.45777	D	0.99866	D	0.89917	1.0	D	0.97110	1.0	T	0.81892	-0.0724	10	0.46703	T	0.11	.	15.2637	0.73643	0.0:0.1408:0.8592:0.0	rs34067076	104	P05177-2	.	N	104	ENSP00000342007:D104N	ENSP00000342007:D104N	D	+	1	0	CYP1A2	72829442	1.000000	0.71417	0.388000	0.26195	0.080000	0.17528	9.325000	0.96381	1.240000	0.43803	-0.304000	0.09214	GAT		PASS	0.672	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		6	20	6	20	---	---	---	---
CSK	1445	broad.mit.edu	37	15	75094051	75094051	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:75094051C>T	ENST00000220003.9	+	11	1632	c.903C>T	c.(901-903)gcC>gcT	p.A301A	CSK_ENST00000309470.9_Silent_p.A301A|CSK_ENST00000439220.2_Silent_p.A301A|CSK_ENST00000567571.1_Silent_p.A301A	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.A301A(1)		central_nervous_system(1)|lung(2)	3						TCTGCGAGGCCATGGAATACC	0.597																																						uc010bkb.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(901-903)GCC>GCT		c-src tyrosine kinase							72.0	68.0	69.0					15																	75094051		2197	4296	6493	SO:0001819	synonymous_variant	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75094051C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.903C>T	15.37:g.75094051C>T						CSK_uc002ays.2_Silent_p.A301A|CSK_uc010bkc.1_Silent_p.A110A	p.A301A	NM_001127190	NP_001120662	P41240	CSK_HUMAN			12	1086	+			301			Protein kinase.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.903C>T	CCDS10269.1																																																																																				PASS	0.597	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		11	19	11	19	---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75112435	75112435	+	Missense_Mutation	SNP	C	C	T	rs554375716	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:75112435C>T	ENST00000309664.5	+	7	908	c.769C>T	c.(769-771)Cca>Tca	p.P257S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Intron	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	257						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P257S(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGCCCAGCCCAGAGGTGAT	0.602																																						uc002ayt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CCA>TCA		lectin, mannose-binding, 1 like precursor							181.0	130.0	148.0					15																	75112435		2197	4296	6493	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75112435C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.769C>T	15.37:g.75112435C>T	ENSP00000310431:p.Pro257Ser					LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron	p.P257S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			7	771	+			257			Lumenal (Potential).		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.769C>T	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	6.536	0.467135	0.12402	.	.	ENSG00000140506	ENST00000309664	T	0.38240	1.15	5.49	2.54	0.30619	Concanavalin A-like lectin/glucanase, subgroup (1);	0.478818	0.20820	N	0.085082	T	0.15435	0.0372	N	0.08118	0	0.80722	D	1	B	0.27498	0.18	B	0.27380	0.079	T	0.07927	-1.0747	10	0.14252	T	0.57	.	6.2845	0.21025	0.0:0.6816:0.1508:0.1676	.	257	Q9HAT1	LMA1L_HUMAN	S	257	ENSP00000310431:P257S	ENSP00000310431:P257S	P	+	1	0	LMAN1L	72899488	0.878000	0.30173	0.318000	0.25279	0.064000	0.16182	1.581000	0.36558	0.278000	0.22164	-0.142000	0.14014	CCA		PASS	0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			10	28	10	28	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76206519	76206519	+	Missense_Mutation	SNP	C	C	T	rs372221349		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:76206519C>T	ENST00000308275.3	+	4	541	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	FBXO22_ENST00000540507.1_Missense_Mutation_p.L42F|FBXO22_ENST00000453211.2_Missense_Mutation_p.L146F	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	146					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.L146F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGCCAAGTCCTTGGGATTGT	0.383																																						uc002bbk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(436-438)CTT>TTT		F-box only protein 22 isoform a		C	PHE/LEU,PHE/LEU	0,4394		0,0,2197	103.0	90.0	94.0		436,436	5.4	1.0	15		94	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	FBXO22	NM_012170.3,NM_147188.2	22,22	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	146/277,146/404	76206519	1,12981	2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76206519C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.436C>T	15.37:g.76206519C>T	ENSP00000307833:p.Leu146Phe					FBXO22_uc002bbj.1_Missense_Mutation_p.L146F|FBXO22_uc002bbl.2_Missense_Mutation_p.L42F	p.L146F	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			4	541	+			146					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.436C>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214117	0.79352	0.0	1.16E-4	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.44	5.44	0.79542	.	0.137004	0.49305	D	0.000145	T	0.66509	0.2796	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.87578	0.96;0.998	T	0.69191	-0.5210	9	0.66056	D	0.02	-23.4066	15.9736	0.80040	0.0:1.0:0.0:0.0	.	146;146	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	F	146;146;42	.	ENSP00000307833:L146F	L	+	1	0	FBXO22	73993574	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	4.510000	0.60455	2.541000	0.85698	0.650000	0.86243	CTT		PASS	0.383	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		12	22	12	22	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	77025689	77025690	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:77025689_77025690GG>AA	ENST00000563290.1	-	16	1997_1998	c.1902_1903CC>TT	c.(1900-1905)gcCCag>gcTTag	p.Q635*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.Q635*|SCAPER_ENST00000538941.2_Nonsense_Mutation_p.Q389*			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	635	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q635*(2)|p.A634A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGTTTATTCTGGGCTTCAAGGG	0.347																																						uc002bby.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1903-1905)CAG>TAG|c.(1900-1902)GCC>GCT		S-phase cyclin A-associated protein in the ER																																				SO:0001587	stop_gained	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77025689G>A|g.chr15:77025690G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1902_1903delinsAA	15.37:g.77025689_77025690delinsAA	ENSP00000454973:p.Gln635*					SCAPER_uc002bbx.2_Nonsense_Mutation_p.Q389*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.Q506*|SCAPER_uc002bca.1_Nonsense_Mutation_p.Q500*|SCAPER_uc002bcb.1_Nonsense_Mutation_p.Q641*|SCAPER_uc002bbx.2_Silent_p.A388A|SCAPER_uc002bbz.1_Silent_p.A505A|SCAPER_uc002bca.1_Silent_p.A499A|SCAPER_uc002bcb.1_Silent_p.A640A	p.Q635*|p.A634A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			15	1962|1961	-			634|633			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation|Silent	SNP	ENST00000563290.1	37	c.1903C>T|c.1902C>T	CCDS53962.1																																																																																				PASS	0.347	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		7	31	7	31	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907381	77907381	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:77907381G>A	ENST00000355300.6	-	2	1042	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	LINGO1_ENST00000561030.1_Missense_Mutation_p.R284C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	290					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R284C(1)|p.R284S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGAGGAAGCGGAGATAGACT	0.607																																						uc002bct.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(868-870)CGC>TGC		leucine-rich repeat neuronal 6A							97.0	96.0	96.0					15																	77907381		2183	4278	6461	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907381G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.868C>T	15.37:g.77907381G>A	ENSP00000347451:p.Arg290Cys					LINGO1_uc002bcu.1_Missense_Mutation_p.R284C	p.R290C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	920	-			290			Extracellular (Potential).|LRR 9.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.868C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961621	0.53400	.	.	ENSG00000169783	ENST00000355300	T	0.81078	-1.45	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	D	0.93601	0.6930	10	0.72032	D	0.01	.	14.7397	0.69445	0.0:0.0:0.8547:0.1453	.	290	Q96FE5	LIGO1_HUMAN	C	290	ENSP00000347451:R290C	ENSP00000347451:R290C	R	-	1	0	LINGO1	75694436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.357000	0.59436	2.513000	0.84729	0.462000	0.41574	CGC		PASS	0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		10	22	10	22	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78471062	78471062	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:78471062C>T	ENST00000258873.4	-	11	1801	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	ACSBG1_ENST00000541759.1_Missense_Mutation_p.M290I|ACSBG1_ENST00000560817.1_Missense_Mutation_p.M290I	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	532					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.M532I(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCTTGTCCTCCATGTTCAGGT	0.627																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1594-1596)ATG>ATA		lipidosin							117.0	76.0	90.0					15																	78471062		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471062C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1596G>A	15.37:g.78471062C>T	ENSP00000258873:p.Met532Ile					ACSBG1_uc010umw.1_Missense_Mutation_p.M528I|ACSBG1_uc010umx.1_Missense_Mutation_p.M290I	p.M532I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			11	1652	-			532					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1596G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030742	0.75504	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10668	2.85;2.85	5.48	3.51	0.40186	AMP-dependent synthetase/ligase (1);	0.150948	0.64402	D	0.000018	T	0.19287	0.0463	L	0.58583	1.82	0.41155	D	0.986058	P;P	0.47253	0.892;0.535	P;P	0.49887	0.625;0.507	T	0.00958	-1.1500	10	0.38643	T	0.18	-28.0643	14.8228	0.70085	0.0:0.7261:0.2739:0.0	.	528;532	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	I	532;290	ENSP00000258873:M532I;ENSP00000439955:M290I	ENSP00000258873:M532I	M	-	3	0	ACSBG1	76258117	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.981000	0.70524	0.624000	0.30286	0.655000	0.94253	ATG		PASS	0.627	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		6	11	6	11	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78471960	78471960	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:78471960C>A	ENST00000258873.4	-	10	1621	c.1416G>T	c.(1414-1416)gcG>gcT	p.A472A	ACSBG1_ENST00000541759.1_Silent_p.A230A|ACSBG1_ENST00000560817.1_Silent_p.A230A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	472					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A472A(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGCCGTAGCCCGCATACAAGC	0.567																																						uc002bdh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1414-1416)GCG>GCT		lipidosin							73.0	67.0	69.0					15																	78471960		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471960C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1416G>T	15.37:g.78471960C>A						ACSBG1_uc010umw.1_Silent_p.A468A|ACSBG1_uc010umx.1_Silent_p.A230A	p.A472A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			10	1472	-			472			ATP (By similarity).		B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1416G>T	CCDS10298.1																																																																																				PASS	0.567	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		4	37	4	37	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78471990	78471990	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:78471990G>A	ENST00000258873.4	-	10	1591	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ACSBG1_ENST00000541759.1_Silent_p.F220F|ACSBG1_ENST00000560817.1_Silent_p.F220F	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	462					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.F462F(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GACCCAGGAAGAAGTGCTGTG	0.557																																						uc002bdh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1384-1386)TTC>TTT		lipidosin							81.0	73.0	76.0					15																	78471990		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471990G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1386C>T	15.37:g.78471990G>A						ACSBG1_uc010umw.1_Silent_p.F458F|ACSBG1_uc010umx.1_Silent_p.F220F	p.F462F	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			10	1442	-			462					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1386C>T	CCDS10298.1																																																																																				PASS	0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		22	32	22	32	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78500387	78500387	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:78500387G>A	ENST00000258873.4	-	2	394	c.189C>T	c.(187-189)ctC>ctT	p.L63L	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	63					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.L63L(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGCACTGAGAGCTCGAGAG	0.577																																						uc002bdh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(187-189)CTC>CTT		lipidosin							81.0	65.0	70.0					15																	78500387		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78500387G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.189C>T	15.37:g.78500387G>A						ACSBG1_uc010umw.1_Silent_p.L63L|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Intron	p.L63L	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			2	245	-			63					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.189C>T	CCDS10298.1																																																																																				PASS	0.577	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		4	13	4	13	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78755400	78755400	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:78755400C>T	ENST00000258886.8	+	3	392	c.243C>T	c.(241-243)ttC>ttT	p.F81F	IREB2_ENST00000560440.1_Silent_p.F81F	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	81					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.F81F(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGCCCTTTTTCCCTGCCCGTG	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)TTC>TTT		iron-responsive element binding protein 2							221.0	206.0	211.0					15																	78755400		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78755400C>T	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.243C>T	15.37:g.78755400C>T						IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.F81F	p.F81F	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	3	405	+			81					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.243C>T	CCDS10302.1																																																																																				PASS	0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		30	50	30	50	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79063624	79063624	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:79063624G>A	ENST00000388820.4	-	16	2608	c.2398C>T	c.(2398-2400)Cct>Tct	p.P800S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	800	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P800S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCACCCCAGGGTTGCTCTCC	0.642																																						uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2398-2400)CCT>TCT		ADAM metallopeptidase with thrombospondin type 1							34.0	26.0	29.0					15																	79063624		2196	4289	6485	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79063624G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2398C>T	15.37:g.79063624G>A	ENSP00000373472:p.Pro800Ser					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR	p.P800S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			16	2609	-			800			Spacer.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2398C>T	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543833	0.65198	.	.	ENSG00000136378	ENST00000388820	T	0.52983	0.64	3.65	3.65	0.41850	ADAM-TS Spacer 1 (1);	0.134314	0.50627	D	0.000107	T	0.69324	0.3098	M	0.87456	2.885	0.50632	D	0.999887	D	0.63046	0.992	D	0.63381	0.914	T	0.77459	-0.2580	10	0.87932	D	0	.	14.4733	0.67531	0.0:0.0:1.0:0.0	.	800	Q9UKP4	ATS7_HUMAN	S	800	ENSP00000373472:P800S	ENSP00000373472:P800S	P	-	1	0	ADAMTS7	76850679	1.000000	0.71417	0.997000	0.53966	0.323000	0.28346	9.301000	0.96167	2.040000	0.60383	0.281000	0.19383	CCT		PASS	0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	6	3	6	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79323819	79323819	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:79323819G>A	ENST00000419573.3	-	8	1459	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.L395L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	395	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L395L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTGGGCCAGGAGCTCATGGA	0.622																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1183-1185)CTC>CTT		Ras protein-specific guanine							101.0	85.0	91.0					15																	79323819		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79323819G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1185C>T	15.37:g.79323819G>A						RASGRF1_uc002bep.2_Silent_p.L395L|RASGRF1_uc010blm.1_Silent_p.L317L|RASGRF1_uc002ber.3_Silent_p.L395L	p.L395L	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			8	1560	-			395			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1185C>T	CCDS10309.1																																																																																				PASS	0.622	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		6	13	6	13	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79323849	79323849	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:79323849G>A	ENST00000419573.3	-	8	1429	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I385I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	385	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I385I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTACCTGGGGATCTGCGGGC	0.617																																						uc002beq.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1153-1155)ATC>ATT		Ras protein-specific guanine							78.0	70.0	73.0					15																	79323849		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79323849G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1155C>T	15.37:g.79323849G>A						RASGRF1_uc002bep.2_Silent_p.I385I|RASGRF1_uc010blm.1_Silent_p.I307I|RASGRF1_uc002ber.3_Silent_p.I385I	p.I385I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			8	1530	-			385			DH.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.1155C>T	CCDS10309.1																																																																																				PASS	0.617	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		7	13	7	13	---	---	---	---
KIAA1024	23251	broad.mit.edu	37	15	79749282	79749282	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:79749282C>T	ENST00000305428.3	+	2	868	c.793C>T	c.(793-795)Cac>Tac	p.H265Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	265						integral component of membrane (GO:0016021)		p.H265Y(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGAGGATTTTCACAATTTGAT	0.498																																						uc002bew.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(793-795)CAC>TAC		hypothetical protein LOC23251							76.0	87.0	83.0					15																	79749282		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749282C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.793C>T	15.37:g.79749282C>T	ENSP00000307461:p.His265Tyr					KIAA1024_uc010unk.1_Missense_Mutation_p.H265Y	p.H265Y	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	868	+			265					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.793C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685527	0.68157	.	.	ENSG00000169330	ENST00000305428	T	0.34859	1.34	5.29	5.29	0.74685	.	0.049333	0.85682	D	0.000000	T	0.60405	0.2266	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.59958	-0.7356	9	.	.	.	.	18.9224	0.92530	0.0:1.0:0.0:0.0	.	265	Q9UPX6	K1024_HUMAN	Y	265	ENSP00000307461:H265Y	.	H	+	1	0	KIAA1024	77536337	1.000000	0.71417	0.987000	0.45799	0.715000	0.41141	5.391000	0.66266	2.454000	0.82982	0.591000	0.81541	CAC		PASS	0.498	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		14	55	14	55	---	---	---	---
ZFAND6	54469	broad.mit.edu	37	15	80415061	80415061	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:80415061C>T	ENST00000261749.6	+	5	705	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	ZFAND6_ENST00000558688.1_Missense_Mutation_p.L95F|ZFAND6_ENST00000558494.1_Missense_Mutation_p.L95F|ZFAND6_ENST00000559835.1_Missense_Mutation_p.L95F|ZFAND6_ENST00000561060.1_Missense_Mutation_p.L95F|ZFAND6_ENST00000559775.1_Missense_Mutation_p.L95F|ZFAND6_ENST00000559157.1_Missense_Mutation_p.L83F|ZFAND6_ENST00000558087.1_Missense_Mutation_p.L95F	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	95	Ser-rich.				apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.L95F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAATCAGTCACTTTTATCAGA	0.353																																						uc002bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CTT>TTT		zinc finger, AN1-type domain 6							129.0	123.0	125.0					15																	80415061		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80415061C>T	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.283C>T	15.37:g.80415061C>T	ENSP00000261749:p.Leu95Phe					ZFAND6_uc002bff.1_Missense_Mutation_p.L95F|ZFAND6_uc002bfg.1_Missense_Mutation_p.L83F|ZFAND6_uc002bfh.1_Missense_Mutation_p.L95F|ZFAND6_uc002bfi.1_Missense_Mutation_p.L95F	p.L95F	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			5	594	+			95			Ser-rich.		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.283C>T	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014256	0.54468	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.52	5.52	0.82312	.	0.603497	0.14356	N	0.324777	T	0.69351	0.3101	L	0.36672	1.1	0.44685	D	0.997672	D;D	0.71674	0.993;0.998	P;D	0.78314	0.863;0.991	T	0.66929	-0.5799	9	0.46703	T	0.11	-5.0164	17.6546	0.88174	0.0:1.0:0.0:0.0	.	83;95	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	F	95	.	ENSP00000261749:L95F	L	+	1	0	ZFAND6	78202116	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.370000	0.44240	2.601000	0.87937	0.650000	0.86243	CTT		PASS	0.353	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		22	44	22	44	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85476451	85476452	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:85476451_85476452CC>TT	ENST00000286749.3	+	12	1249_1250	c.1159_1160CC>TT	c.(1159-1161)CCg>TTg	p.P387L	SLC28A1_ENST00000394573.1_Missense_Mutation_p.P387L|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P387L|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P387L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	387					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.P387L(2)|p.P387S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCTGGTCTACCCGGAGGTGGAG	0.569																																						uc002blg.2																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)	3						c.(1159-1161)CCG>TCG|c.(1159-1161)CCG>CTG		solute carrier family 28, member 1 isoform 1																																				SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476451C>T|g.chr15:85476452C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	Exception_encountered	15.37:g.85476451_85476452delinsTT	ENSP00000286749:p.Pro387Leu					SLC28A1_uc010bnb.2_Missense_Mutation_p.P387S|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.P387S|SLC28A1_uc010upg.1_Missense_Mutation_p.P387S|SLC28A1_uc010bnb.2_Missense_Mutation_p.P387L|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.P387L|SLC28A1_uc010upg.1_Missense_Mutation_p.P387L	p.P387S|p.P387L	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1361|1362	+			387					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1159C>T|c.1160C>T	CCDS10334.1																																																																																				PASS	0.569	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			10|12	46	10	46	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86198952	86198952	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:86198952C>T	ENST00000394518.2	+	11	4774	c.4679C>T	c.(4678-4680)cCc>cTc	p.P1560L	AKAP13_ENST00000361243.2_Missense_Mutation_p.P1560L|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1560					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.P1560L(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTCTTTCTCCCTTCCGGAGG	0.572																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(4678-4680)CCC>CTC		A-kinase anchor protein 13 isoform 2							106.0	102.0	103.0					15																	86198952		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86198952C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4679C>T	15.37:g.86198952C>T	ENSP00000378026:p.Pro1560Leu					AKAP13_uc002blt.1_Missense_Mutation_p.P1560L|AKAP13_uc002blu.1_Missense_Mutation_p.P1560L|AKAP13_uc010bnf.1_Missense_Mutation_p.P200L|AKAP13_uc002blw.1_Missense_Mutation_p.P45L|AKAP13_uc010bne.1_Missense_Mutation_p.P213L	p.P1560L	NM_007200	NP_009131	Q12802	AKP13_HUMAN			11	4849	+			1560					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4679C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102382	0.94245	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	T;T	0.52295	0.68;0.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.70596	0.3242	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.70457	-0.4866	9	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	1560;1560;1560	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	L	1560;1560;1559;1559;200	ENSP00000354718:P1560L;ENSP00000378026:P1560L	ENSP00000354718:P1560L	P	+	2	0	AKAP13	83999956	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.805000	0.75191	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		11	30	11	30	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86697721	86697721	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:86697721C>T	ENST00000441037.2	+	3	280	c.185C>T	c.(184-186)gCc>gTc	p.A62V	AGBL1_ENST00000421325.2_Missense_Mutation_p.A62V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	62					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A62V(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTGATTCTGGCCAGGAAGAAC	0.468																																						uc002blz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GCC>GTC		ATP/GTP binding protein-like 1							92.0	95.0	94.0					15																	86697721		1971	4142	6113	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697721C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.185C>T	15.37:g.86697721C>T	ENSP00000413001:p.Ala62Val						p.A62V	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			3	265	+			62					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.185C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998581	0.19121	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.64260	-0.09	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.64427	0.2597	L	0.31371	0.925	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57365	-0.7824	9	0.02654	T	1	-14.241	15.032	0.71713	0.0:1.0:0.0:0.0	.	62	Q96MI9	CBPC4_HUMAN	V	91;62	ENSP00000397173:A62V	ENSP00000397173:A62V	A	+	2	0	AGBL1	84498725	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.803000	0.47924	2.683000	0.91414	0.650000	0.86243	GCC		PASS	0.468	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		5	14	5	14	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89388994	89388994	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:89388994G>A	ENST00000561243.1	+	6	1310	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	ACAN_ENST00000439576.2_Missense_Mutation_p.G437E|ACAN_ENST00000558207.1_Missense_Mutation_p.G437E|ACAN_ENST00000352105.7_Missense_Mutation_p.G437E|ACAN_ENST00000559004.1_Missense_Mutation_p.G437E			P16112	PGCA_HUMAN	aggrecan	437					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G437E(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AATGAGACTGGAGAGGCCACC	0.642																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1309-1311)GGA>GAA		aggrecan isoform 2 precursor							28.0	34.0	32.0					15																	89388994		2031	4177	6208	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89388994G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1310G>A	15.37:g.89388994G>A	ENSP00000453342:p.Gly437Glu					ACAN_uc002bmx.2_Missense_Mutation_p.G437E|ACAN_uc010upp.1_Missense_Mutation_p.G437E|ACAN_uc002bna.2_RNA	p.G437E	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1684	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		437					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1310G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479367	0.01035	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01902	4.8;4.57	4.96	-3.55	0.04639	.	.	.	.	.	T	0.01092	0.0036	N	0.12746	0.255	0.20074	N	0.999937	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47661	-0.9100	9	0.02654	T	1	-0.0079	6.8474	0.23996	0.5121:0.1238:0.3641:0.0	.	437;437;437	E7ENV9;E7EX88;Q6PID9	.;.;.	E	437	ENSP00000387356:G437E;ENSP00000341615:G437E	ENSP00000268134:G437E	G	+	2	0	ACAN	87189998	0.000000	0.05858	0.382000	0.26119	0.272000	0.26649	-0.735000	0.04888	-0.629000	0.05575	-0.226000	0.12346	GGA		PASS	0.642	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	14	6	14	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89872200	89872200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:89872200G>A	ENST00000268124.5	-	4	1330	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	POLG_ENST00000442287.2_Nonsense_Mutation_p.Q333*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	333					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)	p.Q333*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTTTCCTCTGGGACTTCTGG	0.637								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(997-999)CAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							86.0	77.0	80.0					15																	89872200		2200	4299	6499	SO:0001587	stop_gained	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89872200G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.997C>T	15.37:g.89872200G>A	ENSP00000268124:p.Gln333*					POLG_uc002bnr.3_Nonsense_Mutation_p.Q333*	p.Q333*	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		4	1279	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		333					Q8NFM2|Q92515	Nonsense_Mutation	SNP	ENST00000268124.5	37	c.997C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983655	0.98594	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	.	.	.	6.06	5.12	0.69794	.	0.474049	0.25073	N	0.033349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-0.0381	17.1719	0.86832	0.0:0.1262:0.8738:0.0	.	.	.	.	X	333	.	ENSP00000268124:Q333X	Q	-	1	0	POLG	87673204	0.085000	0.21516	0.599000	0.28851	0.677000	0.39632	2.211000	0.42825	1.514000	0.48869	0.655000	0.94253	CAG		PASS	0.637	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		14	30	14	30	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90126188	90126188	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:90126188C>T	ENST00000268138.7	+	2	1031	c.926C>T	c.(925-927)cCt>cTt	p.P309L	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.P309L|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	309					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P309L(1)									TTATTTCTCCCTGTTGAAGGT	0.338																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(925-927)CCT>CTT		leucine-rich repeat kinase 1							75.0	67.0	70.0					15																	90126188		1859	4089	5948	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90126188C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.926C>T	15.37:g.90126188C>T	ENSP00000268138:p.Pro309Leu						p.P309L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		2	926	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		309					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.926C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532232	0.64972	.	.	ENSG00000140534	ENST00000268138	T	0.14640	2.49	5.53	5.53	0.82687	.	0.397583	0.27792	N	0.017832	T	0.33381	0.0861	L	0.60455	1.87	0.42258	D	0.992001	D	0.76494	0.999	D	0.69479	0.964	T	0.00956	-1.1501	10	0.62326	D	0.03	-20.0253	15.6601	0.77178	0.0:0.8253:0.1747:0.0	.	309	Q7Z2Z1	TICRR_HUMAN	L	309	ENSP00000268138:P309L	ENSP00000268138:P309L	P	+	2	0	C15orf42	87927192	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.121000	0.41977	2.763000	0.94921	0.561000	0.74099	CCT		PASS	0.338	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		13	33	13	33	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90188364	90188365	+	Missense_Mutation	DNP	GG	GG	AA	rs536188566		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:90188364_90188365GG>AA	ENST00000394412.3	-	10	2146_2147	c.2070_2071CC>TT	c.(2068-2073)gcCCgc>gcTTgc	p.R691C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	691	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R178C(2)|p.R691C(2)|p.A177A(1)|p.A690A(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGACCTGGCGGGCCTGAACTC	0.634																																						uc002bof.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|lung(1)	3						c.(2071-2073)CGC>TGC|c.(2068-2070)GCC>GCT		kinesin family member 7																																				SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90188364G>A|g.chr15:90188365G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2070_2071delinsAA	15.37:g.90188364_90188365delinsAA	ENSP00000377934:p.Arg691Cys					KIF7_uc010upw.1_Missense_Mutation_p.R177C|KIF7_uc010upw.1_Silent_p.A176A	p.R691C|p.A690A	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		10	2148|2147	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		691|690					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation|Silent	SNP	ENST00000394412.3	37	c.2071C>T|c.2070C>T	CCDS32325.2																																																																																				PASS	0.634	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		8	16	8	16	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91025317	91025317	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:91025317C>T	ENST00000268182.5	+	27	3579	c.3455C>T	c.(3454-3456)tCt>tTt	p.S1152F	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S580F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1152	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.S1152F(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATTGTCAGCTCTGTGGACAAA	0.517											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3454-3456)TCT>TTT		IQ motif containing GTPase activating protein 1							129.0	110.0	117.0					15																	91025317		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025317C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3455C>T	15.37:g.91025317C>T	ENSP00000268182:p.Ser1152Phe		OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279		p.S1152F	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		27	3556	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1152			Ras-GAP.|C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3455C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795683	0.90453	.	.	ENSG00000140575	ENST00000268182	D	0.83837	-1.77	6.03	6.03	0.97812	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92132	0.5713	10	0.46703	T	0.11	-17.3049	19.5634	0.95382	0.0:1.0:0.0:0.0	.	1152	P46940	IQGA1_HUMAN	F	1152	ENSP00000268182:S1152F	ENSP00000268182:S1152F	S	+	2	0	IQGAP1	88826321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.868000	0.98415	0.557000	0.71058	TCT		PASS	0.517	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		16	45	16	45	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91424898	91424898	+	Silent	SNP	C	C	T	rs376428494		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:91424898C>T	ENST00000268171.3	+	16	2454	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	FES_ENST00000394302.1_5'Flank|FES_ENST00000328850.3_5'Flank|FES_ENST00000414248.2_5'Flank	NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	725					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I725I(1)|p.V717fs*18(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCGCCTTCATCGTGCTGGTCT	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16507	0.0		0.0	False		,,,				2504	0.0					uc002bpu.1																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)		ovary(1)|lung(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(2173-2175)ATC>ATT		furin preproprotein		C		0,4396		0,0,2198	124.0	108.0	114.0		2175	0.9	1.0	15		114	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FURIN	NM_002569.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		725/795	91424898	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91424898C>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.2175C>T	15.37:g.91424898C>T						FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank	p.I725I	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		16	2391	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		725			Helical; (Potential).		Q14336|Q6LBS3|Q9UCZ5	Silent	SNP	ENST00000268171.3	37	c.2175C>T	CCDS10364.1																																																																																				PASS	0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		24	43	24	43	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91447563	91447565	+	Missense_Mutation	TNP	CCC	CCC	TTT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:91447563_91447565CCC>TTT	ENST00000559717.1	+	2	585_587	c.126_128CCC>TTT	c.(124-129)ttCCCc>ttTTTc	p.P43F	MAN2A2_ENST00000360468.3_Missense_Mutation_p.P43F			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	43					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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.P43S(1)|p.P43L(1)|p.F42F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTGGGAACTTCCCCCGGGTGAGT	0.606																																						uc010bnz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(2)|ovary(1)	3						c.(124-126)TTC>TTT|c.(127-129)CCC>TCC|c.(127-129)CCC>CTC		mannosidase, alpha, class 2A, member 2																																				SO:0001583	missense	4122				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.chr15:91447563C>T|g.chr15:91447564C>T|g.chr15:91447565C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.126_128CCC>TTT	15.37:g.91447563CCC>TTT	ENSP00000452948:p.Pro43Phe					MAN2A2_uc010boa.2_Silent_p.F84F|MAN2A2_uc002bqc.2_Silent_p.F42F|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank|MAN2A2_uc010boa.2_Missense_Mutation_p.P85S|MAN2A2_uc002bqc.2_Missense_Mutation_p.P43S|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank|MAN2A2_uc010boa.2_Missense_Mutation_p.P85L|MAN2A2_uc002bqc.2_Missense_Mutation_p.P43L|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.F42F|p.P43S|p.P43L	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		2	241|242|243	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		42|43|43			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Silent|Missense_Mutation|Missense_Mutation	SNP	ENST00000559717.1	37	c.126C>T|c.127C>T|c.128C>T	CCDS32332.1																																																																																				PASS	0.606	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		18	42|42|39	18	39	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91448890	91448890	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:91448890C>T	ENST00000559717.1	+	4	931	c.472C>T	c.(472-474)Ccg>Tcg	p.P158S	MAN2A2_ENST00000360468.3_Missense_Mutation_p.P158S|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	158					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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.P158S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCCTACGACCCGCACGACTG	0.602																																						uc010bnz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(472-474)CCG>TCG		mannosidase, alpha, class 2A, member 2							97.0	71.0	80.0					15																	91448890		2198	4298	6496	SO:0001583	missense	4122				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.chr15:91448890C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.472C>T	15.37:g.91448890C>T	ENSP00000452948:p.Pro158Ser					MAN2A2_uc010boa.2_Missense_Mutation_p.P200S|MAN2A2_uc002bqc.2_Missense_Mutation_p.P158S|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.P158S	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		4	587	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		158			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.472C>T	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	6.451	0.451287	0.12223	.	.	ENSG00000196547	ENST00000360468	T	0.21932	1.98	4.71	4.71	0.59529	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (1);	0.158994	0.56097	D	0.000024	T	0.16171	0.0389	L	0.39020	1.185	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.004	T	0.04811	-1.0925	10	0.09590	T	0.72	-16.6478	14.7304	0.69377	0.0:0.8547:0.1453:0.0	.	158;158	P49641-1;P49641	.;MA2A2_HUMAN	S	158	ENSP00000353655:P158S	ENSP00000353655:P158S	P	+	1	0	MAN2A2	89249894	1.000000	0.71417	0.993000	0.49108	0.545000	0.35147	3.011000	0.49567	2.630000	0.89119	0.485000	0.47835	CCG		PASS	0.602	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		9	19	9	19	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91450582	91450582	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:91450582C>T	ENST00000559717.1	+	8	1512	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	MAN2A2_ENST00000360468.3_Silent_p.F351F|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	351					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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.F351F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGATGCCCTTCTACAGCTATG	0.582																																						uc010bnz.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(1051-1053)TTC>TTT		mannosidase, alpha, class 2A, member 2							110.0	104.0	106.0					15																	91450582		2198	4298	6496	SO:0001819	synonymous_variant	4122				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.chr15:91450582C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1053C>T	15.37:g.91450582C>T						MAN2A2_uc010boa.2_Silent_p.F393F|MAN2A2_uc002bqc.2_Silent_p.F351F|MAN2A2_uc010uql.1_Silent_p.F55F|MAN2A2_uc010uqm.1_5'UTR	p.F351F	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		8	1168	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		351			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	c.1053C>T	CCDS32332.1																																																																																				PASS	0.582	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		25	44	25	44	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93467575	93467575	+	Silent	SNP	G	G	T	rs560296130		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:93467575G>T	ENST00000394196.4	+	3	1155	c.87G>T	c.(85-87)tcG>tcT	p.S29S	CHD2_ENST00000420239.2_Silent_p.S29S|CHD2_ENST00000536619.1_Silent_p.S42S|CHD2_ENST00000557381.1_Silent_p.S29S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	29	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.S29S(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGCTTCGGGTTCAGACT	0.433																																						uc002bsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(85-87)TCG>TCT		chromodomain helicase DNA binding protein 2							68.0	69.0	69.0					15																	93467575		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93467575G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.87G>T	15.37:g.93467575G>T						CHD2_uc002bsm.1_Silent_p.S29S|CHD2_uc002bsn.2_Silent_p.S29S|CHD2_uc002bso.1_Silent_p.S29S|CHD2_uc010urb.1_Silent_p.S42S	p.S29S	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		3	662	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		29			Ser-rich.		C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.87G>T	CCDS10374.2																																																																																				PASS	0.433	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	88	4	88	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97327464	97327464	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:97327464G>T	ENST00000328504.3	+	2	438	c.171G>T	c.(169-171)aaG>aaT	p.K57N	SPATA8_ENST00000558553.1_Missense_Mutation_p.G17W|SPATA8-AS1_ENST00000560888.1_RNA|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	57								p.K57N(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGGCCTCAAGGGCCCGGTGT	0.567																																						uc002bue.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)AAG>AAT		spermatogenesis associated 8							62.0	59.0	60.0					15																	97327464		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97327464G>T	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.171G>T	15.37:g.97327464G>T	ENSP00000328149:p.Lys57Asn					uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.K57N	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		2	381	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		57					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.171G>T	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990747	0.18966	.	.	ENSG00000185594	ENST00000328504	T	0.36340	1.26	3.48	-2.18	0.07037	.	.	.	.	.	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.30406	0.278	B	0.27380	0.079	T	0.18116	-1.0347	9	0.87932	D	0	.	4.4981	0.11851	0.3198:0.0:0.5106:0.1696	.	57	Q6RVD6	SPAT8_HUMAN	N	57	ENSP00000328149:K57N	ENSP00000328149:K57N	K	+	3	2	SPATA8	95128468	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.077000	0.11394	-0.436000	0.07254	-0.940000	0.02684	AAG		PASS	0.567	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		12	14	12	14	---	---	---	---
SPATA8	145946	broad.mit.edu	37	15	97328247	97328247	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:97328247G>A	ENST00000328504.3	+	3	485	c.218G>A	c.(217-219)aGg>aAg	p.R73K	SPATA8_ENST00000558553.1_Silent_p.K32K|SPATA8-AS1_ENST00000558722.1_RNA	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	73								p.R73K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCACGGAAGGATCCAAAGG	0.458																																						uc002bue.2																			1	Substitution - Missense(1)	p.R73R(1)	lung(1)	ovary(1)|skin(1)	2						c.(217-219)AGG>AAG		spermatogenesis associated 8							150.0	139.0	143.0					15																	97328247		2197	4298	6495	SO:0001583	missense	145946							g.chr15:97328247G>A	AY489187	CCDS10376.1	15q26	2008-02-05			ENSG00000185594	ENSG00000185594			28676	protein-coding gene	gene with protein product		613948					Standard	NM_173499		Approved	MGC44294	uc002bue.3	Q6RVD6	OTTHUMG00000149847	ENST00000328504.3:c.218G>A	15.37:g.97328247G>A	ENSP00000328149:p.Arg73Lys					uc010urp.1_5'Flank|uc002bud.1_5'Flank	p.R73K	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0718)		3	428	+	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		73					Q2KJ07	Missense_Mutation	SNP	ENST00000328504.3	37	c.218G>A	CCDS10376.1	.	.	.	.	.	.	.	.	.	.	G	8.554	0.876307	0.17395	.	.	ENSG00000185594	ENST00000328504	T	0.29917	1.55	3.67	-2.55	0.06288	.	.	.	.	.	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B	0.23891	0.093	B	0.17433	0.018	T	0.20974	-1.0259	9	0.87932	D	0	.	4.0992	0.10005	0.4569:0.0:0.38:0.1631	.	73	Q6RVD6	SPAT8_HUMAN	K	73	ENSP00000328149:R73K	ENSP00000328149:R73K	R	+	2	0	SPATA8	95129251	0.011000	0.17503	0.000000	0.03702	0.038000	0.13279	0.307000	0.19296	-0.556000	0.06134	-0.244000	0.11960	AGG		PASS	0.458	SPATA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313533.1	NM_173499		17	52	17	52	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98513180	98513180	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:98513180C>T	ENST00000268042.6	+	6	1114	c.950C>T	c.(949-951)cCa>cTa	p.P317L	ARRDC4_ENST00000538249.1_Missense_Mutation_p.P230L	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	317					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.P317L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GGTACAATTCCATATAATGGT	0.408																																						uc010bom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)CCA>CTA		arrestin domain containing 4							79.0	83.0	82.0					15																	98513180		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98513180C>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.950C>T	15.37:g.98513180C>T	ENSP00000268042:p.Pro317Leu					ARRDC4_uc002bui.3_Missense_Mutation_p.P230L	p.P317L	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		6	1109	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		317					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.950C>T	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916143	0.92178	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.10005	2.92;2.92	4.87	4.87	0.63330	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.072446	0.64402	D	0.000018	T	0.45796	0.1360	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60321	-0.7286	10	0.87932	D	0	-25.2517	18.5731	0.91144	0.0:1.0:0.0:0.0	.	317;230	Q8NCT1;F5H824	ARRD4_HUMAN;.	L	230;317	ENSP00000443774:P230L;ENSP00000268042:P317L	ENSP00000268042:P317L	P	+	2	0	ARRDC4	96314184	1.000000	0.71417	0.258000	0.24420	0.997000	0.91878	7.590000	0.82653	2.683000	0.91414	0.650000	0.86243	CCA		PASS	0.408	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		7	30	7	30	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99672261	99672262	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:99672261_99672262GG>AA	ENST00000336292.6	+	5	3813_3814	c.3693_3694GG>AA	c.(3691-3696)aaGGag>aaAAag	p.E1232K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1233	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E1232K(2)|p.K1231K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATGCTGAAAAGGAGATTATTTT	0.51																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(3694-3696)AAG>AAA|c.(3697-3699)GAG>AAG		desmuslin isoform A																																				SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672261G>A|g.chr15:99672262G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		Exception_encountered	15.37:g.99672261_99672262delinsAA	ENSP00000336775:p.Glu1232Lys					SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.K1232K|p.E1233K	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	3816|3817	+			1232|1233			Tail.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent|Missense_Mutation	SNP	ENST00000336292.6	37	c.3696G>A|c.3697G>A																																																																																					PASS	0.510	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		17|16	40|41	16	40	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100589176	100589176	+	Missense_Mutation	SNP	G	G	A	rs532333138		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:100589176G>A	ENST00000268070.4	-	18	2582	c.2477C>T	c.(2476-2478)tCg>tTg	p.S826L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	826	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S826L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGTGTACACGAGACGATGGT	0.582																																						uc002bvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2476-2478)TCG>TTG		ADAM metallopeptidase with thrombospondin type 1							141.0	105.0	118.0					15																	100589176		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100589176G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2477C>T	15.37:g.100589176G>A	ENSP00000268070:p.Ser826Leu						p.S826L	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	18	2556	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		826			TSP type-1 2.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2477C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	9.093	1.002237	0.19121	.	.	ENSG00000140470	ENST00000268070	T	0.60171	0.21	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.38532	0.1044	L	0.33485	1.01	0.58432	D	0.999999	P	0.48640	0.913	B	0.31390	0.129	T	0.44406	-0.9330	10	0.07644	T	0.81	.	17.7748	0.88504	0.0:0.0:1.0:0.0	.	826	Q8TE56	ATS17_HUMAN	L	826	ENSP00000268070:S826L	ENSP00000268070:S826L	S	-	2	0	ADAMTS17	98406699	1.000000	0.71417	0.863000	0.33907	0.008000	0.06430	6.960000	0.76036	2.250000	0.74265	0.655000	0.94253	TCG		PASS	0.582	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		10	22	10	22	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100692938	100692938	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:100692938G>A	ENST00000268070.4	-	10	1457	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	451	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T451M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCTGGGGTCCGTGACTAGCAA	0.507																																						uc002bvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1351-1353)ACG>ATG		ADAM metallopeptidase with thrombospondin type 1							78.0	67.0	71.0					15																	100692938		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100692938G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1352C>T	15.37:g.100692938G>A	ENSP00000268070:p.Thr451Met					ADAMTS17_uc002bvx.1_Missense_Mutation_p.T208M	p.T451M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	10	1431	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		451			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.1352C>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638050	0.67130	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.03580	3.88	5.62	5.62	0.85841	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.02950	-1.1090	10	0.72032	D	0.01	.	19.6614	0.95875	0.0:0.0:1.0:0.0	.	208;451	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	M	451;208	ENSP00000268070:T451M	ENSP00000268070:T451M	T	-	2	0	ADAMTS17	98510461	1.000000	0.71417	0.970000	0.41538	0.236000	0.25371	8.849000	0.92178	2.633000	0.89246	0.655000	0.94253	ACG		PASS	0.507	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		9	20	9	20	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100821497	100821498	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:100821497_100821498GG>AA	ENST00000268070.4	-	4	830_831	c.725_726CC>TT	c.(724-726)gCC>gTT	p.A242V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A242V(2)|p.A242A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCACCATGTCGGCGTCGGCCAC	0.683																																						uc002bvv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(724-726)GCC>GCT|c.(724-726)GCC>GTC		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821497G>A|g.chr15:100821498G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.725_726delinsAA	15.37:g.100821497_100821498delinsAA	ENSP00000268070:p.Ala242Val					ADAMTS17_uc002bvx.1_5'UTR	p.A242A|p.A242V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	805|804	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		242			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent|Missense_Mutation	SNP	ENST00000268070.4	37	c.726C>T|c.725C>T	CCDS10383.1																																																																																				PASS	0.683	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		8|7	24	7	24	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101528975	101528975	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:101528975C>T	ENST00000388948.3	+	5	929	c.570C>T	c.(568-570)ttC>ttT	p.F190F	LRRK1_ENST00000284395.5_Silent_p.F187F|LRRK1_ENST00000532029.2_Silent_p.F190F	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.F163F(1)|p.F190F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGAATGAGTTCCCTGTCATCG	0.612																																						uc002bwr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(568-570)TTC>TTT		leucine-rich repeat kinase 1							56.0	59.0	58.0					15																	101528975		2074	4195	6269	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528975C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.570C>T	15.37:g.101528975C>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.F190F	p.F190F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		5	889	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		190						Silent	SNP	ENST00000388948.3	37	c.570C>T	CCDS42086.1																																																																																				PASS	0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		16	20	16	20	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101565079	101565079	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:101565079C>T	ENST00000388948.3	+	16	2498	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	LRRK1_ENST00000284395.5_Silent_p.F710F	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.F713F(1)|p.F725F(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCAGTGCTTCTTCACGGACA	0.612																																						uc002bwr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(2137-2139)TTC>TTT		leucine-rich repeat kinase 1							137.0	148.0	145.0					15																	101565079		2047	4186	6233	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101565079C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2139C>T	15.37:g.101565079C>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.F713F	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		16	2458	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		713			Roc.			Silent	SNP	ENST00000388948.3	37	c.2139C>T	CCDS42086.1																																																																																				PASS	0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		32	70	32	70	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101872087	101872088	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:101872087_101872088CC>TT	ENST00000348070.1	-	15	2003_2004	c.2004_2005GG>AA	c.(2002-2007)gtGGaa>gtAAaa	p.E669K	PCSK6_ENST00000358417.3_Missense_Mutation_p.E669K|RP11-299G20.3_ENST00000558696.1_RNA|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	670					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.E669K(4)|p.V668V(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCAGGAACTTCCACCTGGGAGG	0.559																																						uc002bwy.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	pancreas(2)	2						c.(2008-2010)GAA>AAA|c.(2005-2007)GTG>GTA		paired basic amino acid cleaving system 4																																				SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872087C>T|g.chr15:101872088C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2004_2005delinsTT	15.37:g.101872087_101872088delinsTT	ENSP00000305056:p.Glu669Lys					PCSK6_uc010bpd.2_Missense_Mutation_p.E466K|PCSK6_uc010bpe.2_Missense_Mutation_p.E670K|PCSK6_uc002bxa.2_Missense_Mutation_p.E670K|PCSK6_uc002bxb.2_Missense_Mutation_p.E670K|PCSK6_uc010bpd.2_Silent_p.V465V|PCSK6_uc010bpe.2_Silent_p.V669V|PCSK6_uc002bxa.2_Silent_p.V669V|PCSK6_uc002bxb.2_Silent_p.V669V	p.E670K|p.V669V	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2322|2321	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		670|669					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation|Silent	SNP	ENST00000348070.1	37	c.2008G>A|c.2007G>A																																																																																					PASS	0.559	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		8	9	8	9	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101922317	101922317	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:101922317G>A	ENST00000348070.1	-	12	1508	c.1509C>T	c.(1507-1509)gcC>gcT	p.A503A	PCSK6_ENST00000358417.3_Silent_p.A503A|PCSK6_ENST00000331826.7_Silent_p.A338A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Silent_p.A503A|PCSK6_ENST00000344273.2_Silent_p.A503A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	504					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.A503A(3)|p.A338A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCCGAGGCGGCCACACACA	0.557																																						uc002bwy.2																			4	Substitution - coding silent(4)		lung(4)	pancreas(2)	2						c.(1510-1512)GCC>GCT		paired basic amino acid cleaving system 4							55.0	61.0	59.0					15																	101922317		2176	4277	6453	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101922317G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1509C>T	15.37:g.101922317G>A						PCSK6_uc010bpd.2_Intron|PCSK6_uc010bpe.2_Silent_p.A504A|PCSK6_uc002bxa.2_Silent_p.A504A|PCSK6_uc002bxb.2_Silent_p.A504A|PCSK6_uc002bxc.1_Silent_p.A504A|PCSK6_uc002bxd.1_Silent_p.A504A|PCSK6_uc002bxe.2_Silent_p.A504A|PCSK6_uc002bxf.1_Silent_p.A4A	p.A504A	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		12	1826	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		504			Homo B/P.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.1512C>T																																																																																					PASS	0.557	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		5	15	5	15	---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102242492	102242492	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:102242492C>T	ENST00000335968.3	-	9	1387	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	391					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.E391K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACTTTTCCCAGTCTCTC	0.428																																						uc002bxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1171-1173)GAA>AAA		threonyl-tRNA synthetase-like 2							286.0	243.0	258.0					15																	102242492		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102242492C>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1171G>A	15.37:g.102242492C>T	ENSP00000338093:p.Glu391Lys					TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA	p.E391K	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		9	1226	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		391					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1171G>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	C	8.658	0.899864	0.17686	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	5.37	3.43	0.39272	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.048214	0.85682	D	0.000000	T	0.25791	0.0628	N	0.01809	-0.71	0.58432	D	0.999997	B	0.25719	0.132	B	0.24006	0.05	T	0.03981	-1.0987	9	0.23302	T	0.38	-15.8998	13.6754	0.62451	0.0:0.704:0.296:0.0	.	391	A2RTX5	SYTC2_HUMAN	K	391;296;391	.	ENSP00000329291:E296K	E	-	1	0	TARSL2	100060015	1.000000	0.71417	0.962000	0.40283	0.686000	0.39977	4.742000	0.62103	0.597000	0.29811	0.655000	0.94253	GAA		PASS	0.428	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		28	74	28	74	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346096	102346096	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr15:102346096C>T	ENST00000328882.4	+	1	195	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58P(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TACAGTCCCCCATGTACTTCC	0.458																																						uc010utr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)CCC>CCT		olfactory receptor, family 4, subfamily F,							321.0	303.0	309.0					15																	102346096		2203	4300	6503	SO:0001819	synonymous_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346096C>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.174C>T	15.37:g.102346096C>T							p.P58P	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	174	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		58			Helical; Name=2; (Potential).		B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	37	c.174C>T	CCDS32341.1																																																																																				PASS	0.458	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			41	93	41	93	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	304623	304623	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:304623C>T	ENST00000399932.3	+	3	662	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	ITFG3_ENST00000600536.1_Missense_Mutation_p.P71S|ITFG3_ENST00000450082.2_Missense_Mutation_p.P71S|ITFG3_ENST00000301678.3_Missense_Mutation_p.P71S|ITFG3_ENST00000301679.2_Missense_Mutation_p.P71S|ITFG3_ENST00000442458.2_Missense_Mutation_p.P71S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	71						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P71S(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ATTCGTCATCCCGTGTCCAGA	0.612																																						uc002cgf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(211-213)CCG>TCG		integrin alpha FG-GAP repeat containing 3							164.0	176.0	172.0					16																	304623		1954	4140	6094	SO:0001583	missense	83986					integral to membrane		g.chr16:304623C>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.211C>T	16.37:g.304623C>T	ENSP00000382814:p.Pro71Ser					ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.P71S|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.P71S	p.P71S	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			3	406	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	71			Extracellular (Potential).		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.211C>T	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059751	0.76074	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000419173;ENST00000438220;ENST00000447499;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082;ENST00000420500	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.79	4.84	0.62591	Quinonprotein alcohol dehydrogenase-like (1);	0.052859	0.85682	D	0.000000	T	0.72906	0.3519	M	0.83012	2.62	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.76484	-0.2942	10	0.87932	D	0	-9.6777	13.022	0.58794	0.0:0.9221:0.0:0.0779	.	71;71	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	S	71	ENSP00000382814:P71S;ENSP00000301679:P71S;ENSP00000399150:P71S;ENSP00000397477:P71S;ENSP00000407669:P71S;ENSP00000398433:P71S;ENSP00000301678:P71S;ENSP00000411394:P71S	ENSP00000301678:P71S	P	+	1	0	ITFG3	244624	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	4.204000	0.58460	2.750000	0.94351	0.563000	0.77884	CCG		PASS	0.612	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		70	49	70	49	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1257787	1257787	+	Silent	SNP	C	C	T	rs369351441		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:1257787C>T	ENST00000348261.5	+	15	3329	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.S1027S|CACNA1H_ENST00000565831.1_Silent_p.S1027S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1027					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.S1027S(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCAACAGATCCGACACGGACG	0.617																																						uc002cks.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(3079-3081)TCC>TCT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	C	,	3,4119		0,3,2058	59.0	59.0	59.0		3081,3081	-7.2	0.1	16		59	0,8354		0,0,4177	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,3,6235	TT,TC,CC		0.0,0.0728,0.024	,	1027/2348,1027/2354	1257787	3,12473	2061	4177	6238	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1257787C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3081C>T	16.37:g.1257787C>T						CACNA1H_uc002ckt.2_Silent_p.S1027S|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	p.S1027S	NM_021098	NP_066921	O95180	CAC1H_HUMAN			15	3329	+		Hepatocellular(780;0.00369)	1027			Cytoplasmic (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.3081C>T	CCDS45375.1																																																																																				PASS	0.617	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	2	8	2	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1394101	1394101	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:1394101C>T	ENST00000324385.5	+	16	1728	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	BAIAP3_ENST00000568887.1_Missense_Mutation_p.P461S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.P466S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P506S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P506S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P453S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P489S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	524					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.P524S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGACTACTTCCCTGCCACCAA	0.682																																						uc002clk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1570-1572)CCT>TCT		BAI1-associated protein 3							37.0	34.0	35.0					16																	1394101		2199	4297	6496	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394101C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1570C>T	16.37:g.1394101C>T	ENSP00000324510:p.Pro524Ser					BAIAP3_uc002clj.2_Missense_Mutation_p.P506S|BAIAP3_uc010uuz.1_Missense_Mutation_p.P489S|BAIAP3_uc010uva.1_Missense_Mutation_p.P461S|BAIAP3_uc010uvc.1_Missense_Mutation_p.P453S	p.P524S	NM_003933	NP_003924	O94812	BAIP3_HUMAN			16	1570	+		Hepatocellular(780;0.0893)	524					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.1570C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448274	0.63178	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000440627;ENST00000421665	T;T;T;T;T	0.73047	-0.69;-0.7;-0.71;-0.7;-0.67	4.21	4.21	0.49690	.	0.112447	0.64402	D	0.000009	T	0.72787	0.3504	M	0.73962	2.25	0.58432	D	0.999997	P;P;P;P	0.44627	0.54;0.839;0.839;0.653	B;B;B;B	0.43867	0.309;0.434;0.434;0.343	T	0.77892	-0.2418	10	0.56958	D	0.05	-14.9991	14.1344	0.65276	0.0:1.0:0.0:0.0	.	453;466;524;506	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	S	489;506;524;506;130;453	ENSP00000407242:P489S;ENSP00000380625:P506S;ENSP00000324510:P524S;ENSP00000380626:P506S;ENSP00000409533:P453S	ENSP00000324510:P524S	P	+	1	0	BAIAP3	1334102	0.990000	0.36364	0.926000	0.36857	0.758000	0.43043	3.306000	0.51881	2.183000	0.69458	0.485000	0.47835	CCT		PASS	0.682	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			4	7	4	7	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545551	1545551	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:1545551C>T	ENST00000262319.6	+	3	819	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	180					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.F180L(1)|p.F180F(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGAGTTCTTCCCCCAGAACT	0.672																																						uc002cly.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(538-540)TTC>TTT		TEL2, telomere maintenance 2, homolog							59.0	53.0	55.0					16																	1545551		2199	4300	6499	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1545551C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.540C>T	16.37:g.1545551C>T						TELO2_uc010uvg.1_Silent_p.F180F	p.F180F	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			3	831	+		Hepatocellular(780;0.219)	180					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.540C>T	CCDS32363.1																																																																																				PASS	0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		25	13	25	13	---	---	---	---
CASKIN1	57524	broad.mit.edu	37	16	2236736	2236736	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:2236736G>A	ENST00000343516.6	-	10	1112	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	340	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.S340S(1)|p.S169S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCTCGCCCAGGGAGGACGGGA	0.667																																						uc010bsg.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1018-1020)TCC>TCT		CASK interacting protein 1							35.0	40.0	38.0					16																	2236736		2006	4159	6165	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2236736G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1020C>T	16.37:g.2236736G>A							p.S340S	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			10	1052	-			340			SH3.		Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.1020C>T	CCDS42103.1																																																																																				PASS	0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		6	24	6	24	---	---	---	---
RNPS1	10921	broad.mit.edu	37	16	2312359	2312359	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:2312359G>A	ENST00000565678.1	-	6	1141	c.596C>T	c.(595-597)cCc>cTc	p.P199L	RNPS1_ENST00000566458.1_Missense_Mutation_p.P176L|RNPS1_ENST00000320225.5_Missense_Mutation_p.P199L|RNPS1_ENST00000561718.1_Missense_Mutation_p.P22L|RNPS1_ENST00000301730.8_Missense_Mutation_p.P199L|RNPS1_ENST00000566397.1_Missense_Mutation_p.P22L|RNPS1_ENST00000569598.2_Missense_Mutation_p.P105L|RNPS1_ENST00000567147.1_Missense_Mutation_p.P176L|RNPS1_ENST00000397086.2_Missense_Mutation_p.P199L|RNPS1_ENST00000568631.1_Missense_Mutation_p.P199L			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	199	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P199L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGACAGATGGGGATGCATCCT	0.488																																						uc002cpt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(595-597)CCC>CTC		RNA-binding protein S1, serine-rich domain							123.0	110.0	115.0					16																	2312359		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2312359G>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.596C>T	16.37:g.2312359G>A	ENSP00000457723:p.Pro199Leu					RNPS1_uc002cpu.2_Missense_Mutation_p.P199L|RNPS1_uc002cpv.2_Missense_Mutation_p.P22L|RNPS1_uc002cpw.2_Missense_Mutation_p.P199L|RNPS1_uc002cpx.2_Missense_Mutation_p.P176L|RNPS1_uc010uwa.1_RNA	p.P199L	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			6	1142	-			199			Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.596C>T	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021643	0.75275	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.15603	2.41;2.41;2.41	5.12	5.12	0.69794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.053057	0.85682	D	0.000000	T	0.30634	0.0771	L	0.38838	1.175	0.80722	D	1	P;D	0.58268	0.935;0.982	P;D	0.64776	0.885;0.929	T	0.00617	-1.1642	10	0.45353	T	0.12	-40.9207	16.1125	0.81273	0.0:0.0:1.0:0.0	.	176;199	Q15287-2;Q15287	.;RNPS1_HUMAN	L	199	ENSP00000315859:P199L;ENSP00000380275:P199L;ENSP00000301730:P199L	ENSP00000301730:P199L	P	-	2	0	RNPS1	2252360	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.365000	0.79537	2.680000	0.91292	0.446000	0.29264	CCC		PASS	0.488	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		12	43	12	43	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2376095	2376095	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:2376095C>T	ENST00000301732.5	-	5	935	c.235G>A	c.(235-237)Gag>Aag	p.E79K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E79K|ABCA3_ENST00000567910.1_Missense_Mutation_p.E79K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	79					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E79K(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TAGGCAAGCTCCCAGGTGTCT	0.592																																						uc002cpy.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(235-237)GAG>AAG		ATP-binding cassette, sub-family A member 3							69.0	66.0	67.0					16																	2376095		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376095C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.235G>A	16.37:g.2376095C>T	ENSP00000301732:p.Glu79Lys					ABCA3_uc010bsk.1_Missense_Mutation_p.E79K|ABCA3_uc010bsl.1_Missense_Mutation_p.E79K|ABCA3_uc002cpz.1_Missense_Mutation_p.E79K	p.E79K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			5	947	-		Ovarian(90;0.17)	79					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.235G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179903	0.57800	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90261	-2.64	5.63	5.63	0.86233	.	0.066480	0.64402	D	0.000008	D	0.88994	0.6589	L	0.48174	1.505	0.39091	D	0.96109	B;P;P;P	0.44578	0.149;0.635;0.838;0.462	B;B;B;B	0.43360	0.201;0.291;0.287;0.417	D	0.87958	0.2728	10	0.27082	T	0.32	.	18.2478	0.89992	0.0:1.0:0.0:0.0	.	79;141;79;79	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	K	79;141	ENSP00000301732:E79K	ENSP00000301732:E79K	E	-	1	0	ABCA3	2316096	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	3.467000	0.53078	2.666000	0.90696	0.655000	0.94253	GAG		PASS	0.592	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		30	6	30	6	---	---	---	---
NTN3	4917	broad.mit.edu	37	16	2522450	2522450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:2522450C>T	ENST00000293973.1	+	1	951	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	TBC1D24_ENST00000293970.5_5'Flank|TBC1D24_ENST00000567020.1_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	250	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.Q250*(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CACCGACCTCCAGGTGGGCGG	0.667																																						uc002cqj.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(748-750)CAG>TAG		netrin 3 precursor							48.0	45.0	46.0					16																	2522450		2194	4295	6489	SO:0001587	stop_gained	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522450C>T	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.748C>T	16.37:g.2522450C>T	ENSP00000293973:p.Gln250*					TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	p.Q250*	NM_006181	NP_006172	O00634	NET3_HUMAN			1	951	+			250			Laminin N-terminal.			Nonsense_Mutation	SNP	ENST00000293973.1	37	c.748C>T	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	C	37	6.593336	0.97688	.	.	ENSG00000162068	ENST00000293973	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.7479	0.69501	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000293973:Q250X	Q	+	1	0	NTN3	2462451	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.461000	0.80834	2.051000	0.60960	0.305000	0.20034	CAG		PASS	0.667	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		13	17	13	17	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3140621	3140622	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3140621_3140622CC>TT	ENST00000252463.2	-	5	735_736	c.648_649GG>AA	c.(646-651)aaGGag>aaAAag	p.E217K	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E135K	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	217					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E217K(2)|p.K216K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTAAATTCCTCCTTGTCTGGGG	0.564																																						uc002ctv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(649-651)GAG>AAG|c.(646-648)AAG>AAA		zinc finger and SCAN domain containing 10																																				SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140621C>T|g.chr16:3140622C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.648_649delinsTT	16.37:g.3140621_3140622delinsTT	ENSP00000252463:p.Glu217Lys					ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.E135K|ZSCAN10_uc002ctx.1_Missense_Mutation_p.E145K|ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.K134K|ZSCAN10_uc002ctx.1_Silent_p.K144K	p.E217K|p.K216K	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	737|736	-			217|216					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation|Silent	SNP	ENST00000252463.2	37	c.649G>A|c.648G>A	CCDS10493.1																																																																																				PASS	0.564	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		7	24|23	7	23	---	---	---	---
ZNF213	7760	broad.mit.edu	37	16	3188510	3188510	+	Missense_Mutation	SNP	C	C	T	rs201118507		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3188510C>T	ENST00000396878.3	+	3	966	c.491C>T	c.(490-492)cCg>cTg	p.P164L	ZNF213_ENST00000576416.1_Missense_Mutation_p.P164L|ZNF213_ENST00000574902.1_Missense_Mutation_p.P164L|ZNF213_ENST00000416391.2_Missense_Mutation_p.R31C	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	164					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.P164L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGAGGCGGCCGTCTGTTCCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		15528	0.0		0.001	False		,,,				2504	0.0					uc010uws.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)CCG>CTG		zinc finger protein 213		C	LEU/PRO,LEU/PRO	0,4394		0,0,2197	35.0	40.0	38.0		491,491	-0.3	0.0	16		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF213	NM_004220.2,NM_001134655.1	98,98	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	164/460,164/460	3188510	1,12993	2197	4300	6497	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3188510C>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.491C>T	16.37:g.3188510C>T	ENSP00000380087:p.Pro164Leu					ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.P164L|ZNF213_uc010uwt.1_Missense_Mutation_p.P164L	p.P164L	NM_004220	NP_004211	O14771	ZN213_HUMAN			3	938	+			164					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.491C>T	CCDS10495.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	11.51|11.51	1.661713|1.661713	0.29515|0.29515	0.0|0.0	1.16E-4|1.16E-4	ENSG00000085644|ENSG00000085644	ENST00000396878|ENST00000416391	T|T	0.06068|0.05580	3.35|3.42	4.36|4.36	-0.264|-0.264	0.12950|0.12950	.|.	0.982181|.	0.08265|.	N|.	0.972396|.	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.41963|0.41963	-0.9479|-0.9479	10|7	0.23302|0.59425	T|D	0.38|0.04	.|.	2.8497|2.8497	0.05554|0.05554	0.2005:0.448:0.0:0.3515|0.2005:0.448:0.0:0.3515	.|.	164|.	O14771|.	ZN213_HUMAN|.	L|C	164|31	ENSP00000380087:P164L|ENSP00000403892:R31C	ENSP00000380087:P164L|ENSP00000403892:R31C	P|R	+|+	2|1	0|0	ZNF213|ZNF213	3128511|3128511	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.072000|0.072000	0.16883|0.16883	-0.533000|-0.533000	0.06157|0.06157	-0.002000|-0.002000	0.14469|0.14469	0.655000|0.655000	0.94253|0.94253	CCG|CGT		PASS	0.687	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		8	5	8	5	---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254963	3254963	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3254963C>T	ENST00000304646.2	+	1	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	239					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S239S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AAGCCTTCTCCACCTGTGGTT	0.493																																						uc010uwu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(715-717)TCC>TCT		olfactory receptor, family 1, subfamily F,							207.0	186.0	193.0					16																	3254963		2197	4300	6497	SO:0001819	synonymous_variant	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254963C>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.717C>T	16.37:g.3254963C>T							p.S239S	NM_012360	NP_036492	O43749	OR1F1_HUMAN			1	717	+			239			Helical; Name=6; (Potential).		O15246|Q6IFL5	Silent	SNP	ENST00000304646.2	37	c.717C>T	CCDS10496.1																																																																																				PASS	0.493	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			51	25	51	25	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3366913	3366913	+	Splice_Site	SNP	A	A	G	rs370171484		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3366913A>G	ENST00000574298.1	+	5	575	c.102A>G	c.(100-102)gcA>gcG	p.A34A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.A34A(1)		breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTGACAGCATTGTTTGTGC	0.443																																						uc002cut.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(100-102)GCA>GCG		zinc finger protein 75a		A		2,4392	4.2+/-10.8	0,2,2195	102.0	91.0	95.0		102	0.3	1.0	16		95	0,8600		0,0,4300	no	coding-synonymous-near-splice	ZNF75A	NM_153028.2		0,2,6495	GG,GA,AA		0.0,0.0455,0.0154		34/297	3366913	2,12992	2197	4300	6497	SO:0001630	splice_region_variant	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3366913A>G	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.101-1A>G	16.37:g.3366913A>G						ZNF75A_uc002cuv.3_RNA	p.A34A	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			5	628	+			34			KRAB.		Q0VDI8|Q92669	Silent	SNP	ENST00000574298.1	37	c.102A>G	CCDS10501.1																																																																																				PASS	0.443	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028	Silent	7	44	7	44	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3639381	3639381	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3639381G>A	ENST00000294008.3	-	12	4898	c.4258C>T	c.(4258-4260)Cca>Tca	p.P1420S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1420	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.P1420S(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTGGAATTGGGGGGTCACTG	0.627								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4258-4260)CCA>TCA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							63.0	70.0	68.0					16																	3639381		2140	4221	6361	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3639381G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4258C>T	16.37:g.3639381G>A	ENSP00000294008:p.Pro1420Ser						p.P1420S	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	4885	-			1420			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4258C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917692	0.33815	.	.	ENSG00000188827	ENST00000294008	T	0.01548	4.78	5.77	3.78	0.43462	.	0.254965	0.33670	N	0.004668	T	0.02807	0.0084	M	0.71581	2.175	0.21915	N	0.999474	P	0.49253	0.921	B	0.38880	0.284	T	0.40997	-0.9533	10	0.54805	T	0.06	.	9.7145	0.40265	0.0724:0.2631:0.6645:0.0	.	1420	Q8IY92	SLX4_HUMAN	S	1420	ENSP00000294008:P1420S	ENSP00000294008:P1420S	P	-	1	0	SLX4	3579382	1.000000	0.71417	0.052000	0.19188	0.004000	0.04260	2.902000	0.48703	0.877000	0.35895	0.655000	0.94253	CCA		PASS	0.627	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		18	41	18	41	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3658604	3658604	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:3658604T>C	ENST00000294008.3	-	2	1002	c.362A>G	c.(361-363)aAa>aGa	p.K121R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	121	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.K121R(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTTTGCTTTTTAGTCCTAGG	0.542								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)AAA>AGA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							99.0	95.0	96.0					16																	3658604		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658604T>C	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.362A>G	16.37:g.3658604T>C	ENSP00000294008:p.Lys121Arg					BTBD12_uc002cvq.1_Missense_Mutation_p.K121R	p.K121R	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			2	989	-			121			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.362A>G	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	14.92	2.680734	0.47886	.	.	ENSG00000188827	ENST00000294008	T	0.01221	5.15	5.53	2.03	0.26663	.	0.311612	0.23404	N	0.048557	T	0.00967	0.0032	N	0.22421	0.69	0.09310	N	1	P	0.35507	0.506	B	0.26864	0.074	T	0.51880	-0.8649	10	0.56958	D	0.05	.	4.9248	0.13887	0.0:0.1651:0.1589:0.676	.	121	Q8IY92	SLX4_HUMAN	R	121	ENSP00000294008:K121R	ENSP00000294008:K121R	K	-	2	0	SLX4	3598605	0.015000	0.18098	0.053000	0.19242	0.651000	0.38670	0.630000	0.24553	0.455000	0.26910	0.528000	0.53228	AAA		PASS	0.542	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		14	29	14	29	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4410973	4410973	+	Missense_Mutation	SNP	G	G	A	rs140152390	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:4410973G>A	ENST00000251166.4	-	19	2033	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000539968.1_Missense_Mutation_p.R410W|CORO7_ENST00000574025.1_Missense_Mutation_p.R545W|CORO7_ENST00000537233.2_Missense_Mutation_p.R612W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R630W	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	630					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.R630W(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCTTCAGCCGATCAGCTCCA	0.647													G|||	3	0.000599042	0.0	0.0	5008	,	,		16216	0.001		0.0	False		,,,				2504	0.002					uc002cwh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1888-1890)CGG>TGG		coronin 7							75.0	68.0	70.0					16																	4410973		2196	4300	6496	SO:0001583	missense	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4410973G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1888C>T	16.37:g.4410973G>A	ENSP00000251166:p.Arg630Trp					CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R630W|CORO7_uc002cwg.3_Missense_Mutation_p.R410W|CORO7_uc010uxh.1_Missense_Mutation_p.R612W|CORO7_uc010uxi.1_Missense_Mutation_p.R545W|CORO7_uc002cwi.1_Missense_Mutation_p.R410W|CORO7_uc010uxj.1_RNA	p.R630W	NM_024535	NP_078811	P57737	CORO7_HUMAN			19	2008	-			630			WD 6.		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.1888C>T	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952462	0.53293	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.14766	2.48;2.48	5.17	4.15	0.48705	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.308880	0.01515	N	0.018090	T	0.28830	0.0715	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.996;0.996;0.993;0.997	P;P;P;P;P	0.56788	0.711;0.745;0.761;0.545;0.806	T	0.30966	-0.9960	10	0.44086	T	0.13	-7.2183	7.172	0.25724	0.0:0.311:0.4843:0.2047	.	545;612;410;630;611	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	W	630;545;410	ENSP00000251166:R630W;ENSP00000446221:R410W	ENSP00000251166:R630W	R	-	1	2	CORO7	4350974	0.006000	0.16342	0.978000	0.43139	0.221000	0.24807	1.582000	0.36568	2.407000	0.81776	0.455000	0.32223	CGG		PASS	0.647	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		22	20	22	20	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4833651	4833651	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:4833651C>T	ENST00000268231.8	-	6	892	c.629G>A	c.(628-630)aGg>aAg	p.R210K	SEPT12_ENST00000591861.1_5'Flank|SEPT12_ENST00000396693.5_Splice_Site_p.R164K	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	210	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.R210K(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCAGATCACCCTGCGCCTGAA	0.657																																						uc002cxq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(628-630)AGG>AAG		septin 12 isoform 2							56.0	58.0	57.0					16																	4833651		2197	4300	6497	SO:0001630	splice_region_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833651C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.630+1G>A	16.37:g.4833651C>T						SEPT12_uc002cxr.2_Missense_Mutation_p.R164K|SEPT12_uc010bty.2_RNA	p.R210K	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			6	770	-			210					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.629G>A	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.051119	0.19827	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.79454	-1.27;0.75	4.32	1.24	0.21308	.	0.150748	0.56097	D	0.000029	T	0.61337	0.2339	L	0.28400	0.85	0.35905	D	0.830702	B;B	0.22211	0.066;0.045	B;B	0.26517	0.06;0.07	T	0.54695	-0.8255	10	0.30078	T	0.28	.	5.5912	0.17301	0.0:0.6383:0.1681:0.1936	.	164;210	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	K	164;210	ENSP00000379922:R164K;ENSP00000268231:R210K	ENSP00000268231:R210K	R	-	2	0	SEPT12	4773652	0.679000	0.27596	0.980000	0.43619	0.077000	0.17291	-0.029000	0.12329	0.562000	0.29204	0.313000	0.20887	AGG		PASS	0.657	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	Missense_Mutation	12	35	12	35	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4924219	4924219	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:4924219C>T	ENST00000396658.4	+	14	2511	c.1808C>T	c.(1807-1809)tCt>tTt	p.S603F	UBN1_ENST00000545171.1_Missense_Mutation_p.S603F|UBN1_ENST00000262376.6_Missense_Mutation_p.S603F|UBN1_ENST00000590769.1_Missense_Mutation_p.S603F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	603					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S603F(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TAGGAATCGTCTACGAAGCCT	0.458																																						uc002cyb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1807-1809)TCT>TTT		ubinuclein 1							111.0	122.0	118.0					16																	4924219		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924219C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1808C>T	16.37:g.4924219C>T	ENSP00000379894:p.Ser603Phe					UBN1_uc010uxw.1_Missense_Mutation_p.S603F|UBN1_uc002cyc.2_Missense_Mutation_p.S603F	p.S603F	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2147	+			603					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.1808C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173915	0.38413	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51071	1.32;0.72;1.32	4.53	3.54	0.40534	.	0.613098	0.16497	N	0.211840	T	0.67277	0.2876	M	0.76328	2.33	0.21386	N	0.999704	D;D	0.64830	0.994;0.978	D;P	0.77004	0.989;0.564	T	0.59204	-0.7498	10	0.72032	D	0.01	-5.3268	13.0402	0.58895	0.0:0.8384:0.1616:0.0	.	603;603	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	F	603	ENSP00000262376:S603F;ENSP00000442379:S603F;ENSP00000379894:S603F	ENSP00000262376:S603F	S	+	2	0	UBN1	4864220	0.145000	0.22656	0.020000	0.16555	0.642000	0.38348	3.041000	0.49807	1.194000	0.43101	0.561000	0.74099	TCT		PASS	0.458	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		66	43	66	43	---	---	---	---
C16orf89	146556	broad.mit.edu	37	16	5112524	5112524	+	Missense_Mutation	SNP	G	G	A	rs561235172		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:5112524G>A	ENST00000315997.5	-	2	461	c.260C>T	c.(259-261)cCg>cTg	p.P87L	C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L|C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	87						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.P125L(2)|p.P87L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCAGCGGCTGCAGCAG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.001		0.0	False		,,,				2504	0.0					uc010bud.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(373-375)CCG>CTG		hypothetical protein LOC146556 isoform 1							53.0	57.0	55.0					16																	5112524		1920	4138	6058	SO:0001583	missense	146556					extracellular region		g.chr16:5112524G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.260C>T	16.37:g.5112524G>A	ENSP00000324672:p.Pro87Leu					ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.P125L	p.P125L	NM_152459	NP_689672	Q6UX73	CP089_HUMAN			2	462	-			87					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.374C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381079	0.11466	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.98	0.777	0.18538	.	0.331114	0.28268	N	0.015977	T	0.22936	0.0554	L	0.56769	1.78	0.23879	N	0.996585	B;B	0.30211	0.179;0.273	B;B	0.25140	0.026;0.058	T	0.14615	-1.0466	10	0.49607	T	0.09	-14.0929	4.1243	0.10119	0.266:0.0:0.5735:0.1606	.	87;125	Q6UX73;G3V0F0	CP089_HUMAN;.	L	87;87;87;125;125;87	ENSP00000417158:P87L;ENSP00000420566:P87L;ENSP00000390402:P125L;ENSP00000283478:P125L;ENSP00000324672:P87L	ENSP00000324672:P87L	P	-	2	0	C16orf89	5052525	0.000000	0.05858	0.119000	0.21687	0.049000	0.14656	-0.083000	0.11286	-0.062000	0.13088	-1.263000	0.01449	CCG		PASS	0.562	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		24	8	24	8	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:9858202G>A	ENST00000396573.2	-	14	3508	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1067					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1067W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACGTGGCCCGATTTGACGTT	0.498																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3199-3201)CGG>TGG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						127.0	123.0	125.0					16																	9858202		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858202G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3199C>T	16.37:g.9858202G>A	ENSP00000379818:p.Arg1067Trp					GRIN2A_uc010uym.1_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R910W|GRIN2A_uc002czr.3_Missense_Mutation_p.R1067W	p.R1067W	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3747	-			1067			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3199C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603480	0.28534	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.14391	2.51;2.52;2.53;2.51;2.51	5.33	4.34	0.51931	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	M	0.74881	2.28	0.53005	D	0.999969	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	T	0.04307	-1.0961	9	.	.	.	.	12.8907	0.58069	0.0:0.0:0.6167:0.3833	.	910;1067;1067	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	1067;1067;910;1067;1067	ENSP00000379818:R1067W;ENSP00000385872:R1067W;ENSP00000441572:R910W;ENSP00000332549:R1067W;ENSP00000379820:R1067W	.	R	-	1	2	GRIN2A	9765703	1.000000	0.71417	0.949000	0.38748	0.177000	0.22998	1.855000	0.39378	2.491000	0.84063	0.655000	0.94253	CGG		PASS	0.498	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			62	49	62	49	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9858517	9858517	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:9858517C>T	ENST00000396573.2	-	14	3193	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	GRIN2A_ENST00000562109.1_Missense_Mutation_p.E962K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E805K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E962K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E962K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	962			E -> K (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E962K(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTTGGAGTTCGTTCATGTTG	0.438																																						uc002czo.3																			2	Substitution - Missense(2)	p.E962K(1)	lung(1)|skin(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2884-2886)GAA>AAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						176.0	154.0	161.0					16																	9858517		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858517C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2884G>A	16.37:g.9858517C>T	ENSP00000379818:p.Glu962Lys					GRIN2A_uc010uym.1_Missense_Mutation_p.E962K|GRIN2A_uc010uyn.1_Missense_Mutation_p.E805K|GRIN2A_uc002czr.3_Missense_Mutation_p.E962K	p.E962K	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3432	-			962			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2884G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355237	0.82243	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13778	2.58;2.56;2.58;2.58;2.58	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.093099	0.64402	D	0.000001	T	0.26521	0.0648	M	0.68593	2.085	0.49483	D	0.999792	P;P;P	0.52170	0.588;0.951;0.95	B;P;B	0.49361	0.294;0.608;0.338	T	0.00735	-1.1588	9	.	.	.	.	18.2463	0.89986	0.0:1.0:0.0:0.0	.	805;962;962	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	962;962;805;962;962	ENSP00000379818:E962K;ENSP00000385872:E962K;ENSP00000441572:E805K;ENSP00000332549:E962K;ENSP00000379820:E962K	.	E	-	1	0	GRIN2A	9766018	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.395000	0.79876	2.547000	0.85894	0.655000	0.94253	GAA		PASS	0.438	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			22	48	22	48	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9934562	9934562	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:9934562C>T	ENST00000396573.2	-	8	1902	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	GRIN2A_ENST00000562109.1_Silent_p.T531T|GRIN2A_ENST00000404927.2_Silent_p.T531T|GRIN2A_ENST00000535259.1_Silent_p.T374T|GRIN2A_ENST00000396575.2_Silent_p.T531T|GRIN2A_ENST00000330684.3_Silent_p.T531T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	531			T -> M (in FESD; affects receptor kinetics). {ECO:0000269|PubMed:23933818}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T531T(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACTGATTCCCGTTTCCACAA	0.468																																						uc002czo.3																			2	Substitution - coding silent(2)		lung(2)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1591-1593)ACG>ACA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						135.0	107.0	116.0					16																	9934562		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934562C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1593G>A	16.37:g.9934562C>T						GRIN2A_uc010uym.1_Silent_p.T531T|GRIN2A_uc010uyn.1_Silent_p.T374T|GRIN2A_uc002czr.3_Silent_p.T531T	p.T531T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			7	2141	-			531			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.1593G>A	CCDS10539.1																																																																																				PASS	0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			29	20	29	20	---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10788716	10788717	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:10788716_10788717CC>TT	ENST00000283025.2	-	1	85_86	c.14_15GG>AA	c.(13-15)gGG>gAA	p.G5E	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	5						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.G5E(2)|p.G5G(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTGAGTAGTCCCAAGAAACTC	0.55																																						uc002czz.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(13-15)GGG>GGA|c.(13-15)GGG>GAG		tektin 5																																				SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788716C>T|g.chr16:10788717C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.14_15delinsTT	16.37:g.10788716_10788717delinsTT	ENSP00000283025:p.Gly5Glu						p.G5G|p.G5E	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	87|86	-			5					A1L3Z3	Silent|Missense_Mutation	SNP	ENST00000283025.2	37	c.15G>A|c.14G>A	CCDS10542.1																																																																																				PASS	0.550	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		20	12	20	12	---	---	---	---
NUBP1	4682	broad.mit.edu	37	16	10855685	10855685	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:10855685C>A	ENST00000283027.5	+	9	808	c.789C>A	c.(787-789)ctC>ctA	p.L263L	NUBP1_ENST00000433392.2_Silent_p.L252L|TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2			nucleotide binding protein 1									p.L263L(1)		large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						AGGTCCCTCTCCTCGGCAGAG	0.622																																						uc002daa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(787-789)CTC>CTA		nucleotide binding protein 1							49.0	51.0	50.0					16																	10855685		2197	4300	6497	SO:0001819	synonymous_variant	4682				cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding	g.chr16:10855685C>A	U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.789C>A	16.37:g.10855685C>A						FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|NUBP1_uc010bum.1_Silent_p.L128L|NUBP1_uc002dab.1_Silent_p.L252L	p.L263L	NM_002484	NP_002475	P53384	NUBP1_HUMAN			9	812	+			263						Silent	SNP	ENST00000283027.5	37	c.789C>A	CCDS10543.1																																																																																				PASS	0.622	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484		13	7	13	7	---	---	---	---
TNP2	7142	broad.mit.edu	37	16	11362727	11362727	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:11362727C>T	ENST00000312693.3	-	1	462	c.393G>A	c.(391-393)cgG>cgA	p.R131R	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	131			R -> W (in dbSNP:rs11640138).		acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)|p.R131R(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TACCTGAGCTCCGCGTCTTGG	0.552																																						uc002das.2																			2	Whole gene deletion(1)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(391-393)CGG>CGA		transition protein 2 (during histone to							42.0	43.0	43.0					16																	11362727		1989	4153	6142	SO:0001819	synonymous_variant	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11362727C>T		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.393G>A	16.37:g.11362727C>T						C16orf75_uc002daq.1_Intron	p.R131R	NM_005425	NP_005416	Q05952	STP2_HUMAN			1	434	-			131					Q9NZB0	Silent	SNP	ENST00000312693.3	37	c.393G>A	CCDS45410.1																																																																																				PASS	0.552	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		20	6	20	6	---	---	---	---
LITAF	9516	broad.mit.edu	37	16	11650521	11650521	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:11650521G>A	ENST00000571688.1	-	2	296	c.66C>T	c.(64-66)tcC>tcT	p.S22S	LITAF_ENST00000576036.1_Silent_p.S22S|LITAF_ENST00000571459.1_Silent_p.S22S|LITAF_ENST00000381810.3_Silent_p.S22S|LITAF_ENST00000570904.1_Silent_p.S22S|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000413364.2_Silent_p.S22S|LITAF_ENST00000574763.1_Silent_p.S22S|LITAF_ENST00000339430.5_Silent_p.S22S|LITAF_ENST00000571976.1_Silent_p.S22S|LITAF_ENST00000574703.1_Silent_p.S22S	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	22					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S22S(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						TCTCTTCATAGGATGGAGGTG	0.547																																						uc002daz.2																			1	Substitution - coding silent(1)		lung(1)	liver(1)	1						c.(64-66)TCC>TCT		lipopolysaccharide-induced TNF-alpha factor							96.0	87.0	90.0					16																	11650521		2197	4300	6497	SO:0001819	synonymous_variant	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11650521G>A	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.66C>T	16.37:g.11650521G>A						LITAF_uc002dba.2_Silent_p.S22S|LITAF_uc002dbb.2_Silent_p.S22S|LITAF_uc002dbc.2_Silent_p.S22S|LITAF_uc002dbd.2_Silent_p.S22S|LITAF_uc002dbe.3_Silent_p.S22S	p.S22S	NM_004862	NP_004853	Q99732	LITAF_HUMAN			2	299	-			22			WW-binding.		D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Silent	SNP	ENST00000571688.1	37	c.66C>T	CCDS32386.1																																																																																				PASS	0.547	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		9	15	9	15	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15829337	15829337	+	Missense_Mutation	SNP	C	C	T	rs187593975		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:15829337C>T	ENST00000300036.5	-	26	3501	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	MYH11_ENST00000452625.2_Missense_Mutation_p.R1138Q|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.R1131Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1138Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1131					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.R1138L(1)|p.R1131Q(1)|p.R1138Q(1)|p.R1131L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGGCGGCCCGCTCTGAGTC	0.582			T	CBFB	AML								C|||	1	0.000199681	0.0	0.0	5008	,	,		18915	0.0		0.001	False		,,,				2504	0.0					uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3391-3393)CGG>CAG		smooth muscle myosin heavy chain 11 isoform							129.0	120.0	123.0					16																	15829337		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15829337C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3392G>A	16.37:g.15829337C>T	ENSP00000300036:p.Arg1131Gln					MYH11_uc002ddv.2_Missense_Mutation_p.R1138Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1131Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1138Q|MYH11_uc010bvg.2_Missense_Mutation_p.R963Q	p.R1131Q	NM_002474	NP_002465	P35749	MYH11_HUMAN			26	3499	-			1131			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.3392G>A	CCDS10565.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.41	3.618749	0.66787	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.51	5.51	0.81932	Myosin tail (1);	0.063541	0.64402	D	0.000012	T	0.81955	0.4932	M	0.73319	2.225	0.44702	D	0.997691	B;B;B;B;B	0.34226	0.443;0.238;0.238;0.238;0.238	B;B;B;B;B	0.38264	0.269;0.269;0.269;0.269;0.269	T	0.82694	-0.0330	10	0.87932	D	0	.	8.0815	0.30748	0.0:0.8283:0.0:0.1717	.	1138;1131;1138;1131;1138	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1131;1131;1138;1138;1138	ENSP00000300036:R1131Q;ENSP00000345136:R1131Q;ENSP00000379616:R1138Q;ENSP00000407821:R1138Q	ENSP00000300036:R1131Q	R	-	2	0	MYH11	15736838	0.986000	0.35501	0.969000	0.41365	0.967000	0.64934	1.651000	0.37302	2.593000	0.87608	0.442000	0.29010	CGG		PASS	0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		51	30	51	30	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17353133	17353133	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:17353133G>A	ENST00000261381.6	-	3	709	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	209					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.P209S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTTTCCCAGGGAATGTATGT	0.577																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(625-627)CCT>TCT		xylosyltransferase I							121.0	132.0	129.0					16																	17353133		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353133G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.625C>T	16.37:g.17353133G>A	ENSP00000261381:p.Pro209Ser						p.P209S	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	710	-			209			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.625C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.558872	0.00910	.	.	ENSG00000103489	ENST00000261381	T	0.04317	3.65	5.17	4.21	0.49690	.	0.468914	0.22962	N	0.053529	T	0.02727	0.0082	N	0.08118	0	0.26232	N	0.979008	B	0.25235	0.121	B	0.17979	0.02	T	0.40701	-0.9549	10	0.07644	T	0.81	-0.8233	14.841	0.70223	0.0:0.1444:0.8555:0.0	.	209	Q86Y38	XYLT1_HUMAN	S	209	ENSP00000261381:P209S	ENSP00000261381:P209S	P	-	1	0	XYLT1	17260634	0.999000	0.42202	0.008000	0.14137	0.014000	0.08584	2.599000	0.46231	1.158000	0.42547	0.467000	0.42956	CCT		PASS	0.577	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		20	68	20	68	---	---	---	---
ARL6IP1	23204	broad.mit.edu	37	16	18810056	18810057	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:18810056_18810057GG>AA	ENST00000304414.7	-	2	347_348	c.136_137CC>TT	c.(136-138)CCt>TTt	p.P46F	ARL6IP1_ENST00000562819.1_Missense_Mutation_p.P46F|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.P17F|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.P46F	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	46					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)		p.P46F(1)|p.P46L(1)|p.P46S(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CATGATGGCAGGTGGAAACCAG	0.436																																						uc002dfl.1																			3	Substitution - Missense(3)		lung(3)		0						c.(136-138)CCT>CTT|c.(136-138)CCT>TCT		ADP-ribosylation factor-like 6 interacting																																				SO:0001583	missense	23204					integral to membrane	protein binding	g.chr16:18810056G>A|g.chr16:18810057G>A	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.136_137delinsAA	16.37:g.18810056_18810057delinsAA	ENSP00000306788:p.Pro46Phe					ARL6IP1_uc010van.1_Missense_Mutation_p.P17L|ARL6IP1_uc010bvz.1_RNA|ARL6IP1_uc010van.1_Missense_Mutation_p.P17S|ARL6IP1_uc010bvz.1_RNA	p.P46L|p.P46S	NM_015161	NP_055976	Q15041	AR6P1_HUMAN			2	206|205	-			46			Helical; (Potential).			Missense_Mutation	SNP	ENST00000304414.7	37	c.137C>T|c.136C>T	CCDS10572.1																																																																																				PASS	0.436	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		26	67	26	67	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18844347	18844347	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:18844347G>A	ENST00000446231.2	-	51	9119	c.8707C>T	c.(8707-8709)Cta>Tta	p.L2903L	SMG1_ENST00000389467.3_Silent_p.L2903L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2903					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L2899L(1)|p.L2903L(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATTCCACTAGAGTCTGCAGG	0.468																																						uc002dfm.2																			2	Substitution - coding silent(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(8707-8709)CTA>TTA		PI-3-kinase-related kinase SMG-1							248.0	238.0	241.0					16																	18844347		1944	4141	6085	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18844347G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8707C>T	16.37:g.18844347G>A						SMG1_uc010bwb.2_Silent_p.L2763L|SMG1_uc010bwa.2_Silent_p.L1634L	p.L2903L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			51	9070	-			2903					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8707C>T	CCDS45430.1																																																																																				PASS	0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		37	125	37	125	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19068005	19068005	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:19068005C>T	ENST00000304381.5	+	14	2143	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	TMC7_ENST00000569532.1_Silent_p.F671F|TMC7_ENST00000421369.3_Silent_p.F561F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	671					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.F671F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGTTCCTTTCTTCATGATTA	0.587																																						uc002dfq.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2011-2013)TTC>TTT		transmembrane channel-like 7 isoform a							124.0	109.0	114.0					16																	19068005		2197	4300	6497	SO:0001819	synonymous_variant	79905					integral to membrane		g.chr16:19068005C>T	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2013C>T	16.37:g.19068005C>T						TMC7_uc002dfp.2_Silent_p.F671F|TMC7_uc010vap.1_Silent_p.F561F	p.F671F	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN			14	2143	+			671			Helical; (Potential).		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	ENST00000304381.5	37	c.2013C>T	CCDS10573.1																																																																																				PASS	0.587	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		24	22	24	22	---	---	---	---
COQ7	10229	broad.mit.edu	37	16	19083408	19083408	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:19083408A>T	ENST00000321998.5	+	2	298	c.232A>T	c.(232-234)Agc>Tgc	p.S78C	COQ7_ENST00000544894.2_Missense_Mutation_p.S40C|COQ7_ENST00000569127.1_Missense_Mutation_p.S55C|COQ7_ENST00000568985.1_Missense_Mutation_p.S78C	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	78	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S78C(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GGGTCGGACCAGCGTCGGGCC	0.557											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dfr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(232-234)AGC>TGC		COQ7 protein							108.0	112.0	111.0					16																	19083408		2197	4300	6497	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19083408A>T	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.232A>T	16.37:g.19083408A>T	ENSP00000322316:p.Ser78Cys		OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	COQ7_uc002dfs.2_Missense_Mutation_p.S64C	p.S78C	NM_016138	NP_057222	Q99807	COQ7_HUMAN			2	292	+			78			1.|2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.232A>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297764	0.40694	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	T;T	0.45276	0.9;0.9	5.54	5.54	0.83059	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.309777	0.42053	D	0.000766	T	0.59542	0.2201	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.68353	0.928;0.957	T	0.56189	-0.8020	10	0.59425	D	0.04	-31.3087	11.1631	0.48526	0.8621:0.0:0.0:0.1379	.	55;78	Q49A71;Q99807	.;COQ7_HUMAN	C	78;40	ENSP00000322316:S78C;ENSP00000442923:S40C	ENSP00000322316:S78C	S	+	1	0	COQ7	18990909	0.107000	0.21998	0.100000	0.21137	0.073000	0.16967	2.586000	0.46119	2.097000	0.63578	0.533000	0.62120	AGC		PASS	0.557	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		9	48	9	48	---	---	---	---
SYT17	51760	broad.mit.edu	37	16	19195301	19195301	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:19195301C>T	ENST00000355377.2	+	5	1181	c.783C>T	c.(781-783)acC>acT	p.T261T	SYT17_ENST00000562034.1_Silent_p.T200T|SYT17_ENST00000568115.1_Silent_p.T200T|SYT17_ENST00000562711.2_Silent_p.T257T	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	261	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.T261T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGCGCTACACCTTCGAGATCC	0.557																																						uc002dfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(781-783)ACC>ACT		B/K protein							140.0	130.0	134.0					16																	19195301		2197	4300	6497	SO:0001819	synonymous_variant	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195301C>T		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.783C>T	16.37:g.19195301C>T						SYT17_uc002dfx.2_Silent_p.T200T|SYT17_uc002dfy.2_Silent_p.T257T|SYT17_uc002dfv.1_Silent_p.T200T	p.T261T	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN			5	1114	+			261			C2 1.		O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	c.783C>T	CCDS10575.1																																																																																				PASS	0.557	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		27	78	27	78	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20471551	20471551	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20471551G>A	ENST00000573854.1	+	2	229	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ACSM2A_ENST00000424070.1_Missense_Mutation_p.E39K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E39K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E39K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E39K|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_Intron	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	39					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E39K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGCCACCAGGAAGTGCCGGC	0.507																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(115-117)GAA>AAA		acyl-CoA synthetase medium-chain family member							26.0	26.0	26.0					16																	20471551		2203	4295	6498	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471551G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.115G>A	16.37:g.20471551G>A	ENSP00000459451:p.Glu39Lys					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.E39K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E39K|ACSM2A_uc010vay.1_Intron	p.E39K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	354	+			39					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.115G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397454	0.42512	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.48836	0.8;0.8;0.8	3.81	0.572	0.17357	.	0.306311	0.23380	N	0.048819	T	0.30603	0.0770	L	0.35542	1.07	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.15578	-1.0432	10	0.25751	T	0.34	-10.5205	7.6464	0.28323	0.3216:0.0:0.6784:0.0	.	39	Q08AH3	ACS2A_HUMAN	K	39	ENSP00000219054:E39K;ENSP00000394904:E39K;ENSP00000379411:E39K	ENSP00000219054:E39K	E	+	1	0	ACSM2A	20379052	0.711000	0.27906	0.059000	0.19551	0.596000	0.36781	0.886000	0.28241	0.219000	0.20840	0.454000	0.30748	GAA		PASS	0.507	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		11	14	11	14	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20494415	20494415	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20494415C>T	ENST00000573854.1	+	13	1659	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ACSM2A_ENST00000219054.6_Silent_p.F515F|ACSM2A_ENST00000575690.1_Silent_p.F515F|ACSM2A_ENST00000396104.2_Silent_p.F515F|ACSM2A_ENST00000417235.2_Silent_p.F436F|ACSM2A_ENST00000536134.1_Silent_p.F287F	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	515					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.F515F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTCGCAGTTCCTGTCCCATG	0.507																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1543-1545)TTC>TTT		acyl-CoA synthetase medium-chain family member							198.0	176.0	184.0					16																	20494415		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494415C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1545C>T	16.37:g.20494415C>T						ACSM2A_uc002dhf.3_Silent_p.F515F|ACSM2A_uc002dhg.3_Silent_p.F515F|ACSM2A_uc010vay.1_Silent_p.F436F|ACSM2A_uc002dhh.3_Silent_p.F145F	p.F515F	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1784	+			515					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1545C>T	CCDS32401.1																																																																																				PASS	0.507	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		25	67	25	67	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20494431	20494431	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20494431G>A	ENST00000573854.1	+	13	1675	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	ACSM2A_ENST00000219054.6_Missense_Mutation_p.E521K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E521K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E521K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E442K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E293K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	521					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E521K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCATGACCCAGAACAGCTCAC	0.512																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1561-1563)GAA>AAA		acyl-CoA synthetase medium-chain family member							177.0	158.0	165.0					16																	20494431		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494431G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1561G>A	16.37:g.20494431G>A	ENSP00000459451:p.Glu521Lys					ACSM2A_uc002dhf.3_Missense_Mutation_p.E521K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E521K|ACSM2A_uc010vay.1_Missense_Mutation_p.E442K|ACSM2A_uc002dhh.3_Missense_Mutation_p.E151K	p.E521K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1800	+			521					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1561G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663078	0.29515	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	3.26	1.16	0.20824	.	0.683800	0.13224	N	0.404126	T	0.43567	0.1253	L	0.37630	1.12	0.09310	N	1	B	0.23490	0.086	B	0.23150	0.044	T	0.32640	-0.9899	10	0.49607	T	0.09	-4.8276	6.8048	0.23772	0.0996:0.0:0.7261:0.1743	.	521	Q08AH3	ACS2A_HUMAN	K	442;521;293;521	ENSP00000392169:E442K;ENSP00000219054:E521K;ENSP00000445082:E293K;ENSP00000379411:E521K	ENSP00000219054:E521K	E	+	1	0	ACSM2A	20401932	0.000000	0.05858	0.005000	0.12908	0.936000	0.57629	0.361000	0.20267	0.033000	0.15463	0.305000	0.20034	GAA		PASS	0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		28	54	28	54	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20548624	20548624	+	Nonsense_Mutation	SNP	G	G	A	rs374858896		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20548624G>A	ENST00000329697.6	-	14	1858	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R485*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R564*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	564					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R564*(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCTTGTCTCGAAGTTTGGTT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		19243	0.0		0.001	False		,,,				2504	0.0					uc002dhj.3																			2	Substitution - Nonsense(2)		lung(1)|skin(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1690-1692)CGA>TGA		acyl-CoA synthetase medium-chain family member		G	stop/ARG,stop/ARG	0,4404		0,0,2202	261.0	240.0	247.0		1690,1690	3.0	1.0	16		247	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	564/578,564/578	20548624	1,13003	2202	4300	6502	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548624G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1690C>T	16.37:g.20548624G>A	ENSP00000327453:p.Arg564*					ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R564*	p.R564*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			15	1900	-			564					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1690C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	5.325	0.245365	0.10077	0.0	1.16E-4	ENSG00000066813	ENST00000329697	.	.	.	2.98	2.98	0.34508	.	0.000000	0.36101	N	0.002794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3572	9.2741	0.37690	0.0:0.0:0.6509:0.3491	.	.	.	.	X	564	.	ENSP00000327453:R564X	R	-	1	2	ACSM2B	20456125	0.028000	0.19301	0.985000	0.45067	0.157000	0.22087	0.461000	0.21940	1.647000	0.50633	0.609000	0.83330	CGA		PASS	0.463	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		48	136	48	136	---	---	---	---
DCUN1D3	123879	broad.mit.edu	37	16	20873630	20873630	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20873630C>T	ENST00000324344.4	-	2	516	c.231G>A	c.(229-231)agG>agA	p.R77R	DCUN1D3_ENST00000563934.1_Silent_p.R77R|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	77					negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)		p.R77R(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ACTTGGACTCCCTCCCAGCAT	0.572																																						uc002dhz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(229-231)AGG>AGA		DCN1, defective in cullin neddylation 1, domain							148.0	146.0	147.0					16																	20873630		2201	4300	6501	SO:0001819	synonymous_variant	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20873630C>T	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.231G>A	16.37:g.20873630C>T						ERI2_uc002dht.3_Intron	p.R77R	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	2	372	-			77					B3KVY4	Silent	SNP	ENST00000324344.4	37	c.231G>A	CCDS10592.1																																																																																				PASS	0.572	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		29	76	29	76	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20966324	20966324	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20966324C>T	ENST00000261383.3	-	55	10881	c.10882G>A	c.(10882-10884)Gga>Aga	p.G3628R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3628	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.G3628R(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTTGATTCCATTCTGGAGA	0.483																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(10882-10884)GGA>AGA		dynein, axonemal, heavy chain 3							103.0	102.0	102.0					16																	20966324		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20966324C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10882G>A	16.37:g.20966324C>T	ENSP00000261383:p.Gly3628Arg					DNAH3_uc010vbd.1_Missense_Mutation_p.G1063R	p.G3628R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	55	10882	-			3628			AAA 6 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10882G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197491	0.94960	.	.	ENSG00000158486	ENST00000261383	T	0.10382	2.88	5.43	5.43	0.79202	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72265	-0.4344	10	0.87932	D	0	.	19.2436	0.93893	0.0:1.0:0.0:0.0	.	3628	Q8TD57	DYH3_HUMAN	R	3628	ENSP00000261383:G3628R	ENSP00000261383:G3628R	G	-	1	0	DNAH3	20873825	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.779000	0.85648	2.543000	0.85770	0.655000	0.94253	GGA		PASS	0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	42	10	42	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975616	20975616	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:20975616G>A	ENST00000261383.3	-	53	9589	c.9590C>T	c.(9589-9591)aCc>aTc	p.T3197I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3197	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.T3197I(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCAAGGGGGTGATCATGAA	0.478																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9589-9591)ACC>ATC		dynein, axonemal, heavy chain 3							84.0	80.0	81.0					16																	20975616		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975616G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9590C>T	16.37:g.20975616G>A	ENSP00000261383:p.Thr3197Ile					DNAH3_uc010vbd.1_Missense_Mutation_p.T632I	p.T3197I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9590	-			3197			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9590C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433448	0.83776	.	.	ENSG00000158486	ENST00000261383	T	0.29142	1.58	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87160	0.2214	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	3197	Q8TD57	DYH3_HUMAN	I	3197	ENSP00000261383:T3197I	ENSP00000261383:T3197I	T	-	2	0	DNAH3	20883117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	ACC		PASS	0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		11	34	11	34	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21049287	21049287	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:21049287G>A	ENST00000261383.3	-	34	4745	c.4746C>T	c.(4744-4746)atC>atT	p.I1582I	DNAH3_ENST00000415178.1_Silent_p.I1582I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1582	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I1582I(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCGCAACGATCTTCTGGG	0.552																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4744-4746)ATC>ATT		dynein, axonemal, heavy chain 3							85.0	64.0	71.0					16																	21049287		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21049287G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4746C>T	16.37:g.21049287G>A							p.I1582I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	34	4746	-			1582			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4746C>T	CCDS10594.1																																																																																				PASS	0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	9	7	9	---	---	---	---
ZP2	7783	broad.mit.edu	37	16	21208822	21208822	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:21208822T>A	ENST00000574002.1	-	20	2699	c.2217A>T	c.(2215-2217)aaA>aaT	p.K739N	ZP2_ENST00000574091.1_Missense_Mutation_p.K730N|ZP2_ENST00000219593.4_Missense_Mutation_p.K739N|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	739					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.K739N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACACAGTCCTTTTCTCGTACA	0.438																																						uc002dii.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2215-2217)AAA>AAT		zona pellucida glycoprotein 2 preproprotein							90.0	81.0	84.0					16																	21208822		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21208822T>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2217A>T	16.37:g.21208822T>A	ENSP00000460971:p.Lys739Asn					ZP2_uc010bwn.1_Missense_Mutation_p.K769N	p.K739N	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2217	-			739			Cytoplasmic (Potential).		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2217A>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046111	0.36085	.	.	ENSG00000103310	ENST00000219593	T	0.81415	-1.49	5.36	0.379	0.16213	.	0.536026	0.20036	N	0.100613	T	0.63780	0.2540	N	0.25485	0.75	0.19945	N	0.999942	B;B	0.20887	0.049;0.049	B;B	0.19666	0.026;0.026	T	0.50516	-0.8819	10	0.39692	T	0.17	-11.3258	4.8925	0.13733	0.0:0.2475:0.1492:0.6033	.	730;739	Q4VAP1;Q05996	.;ZP2_HUMAN	N	739	ENSP00000219593:K739N	ENSP00000219593:K739N	K	-	3	2	ZP2	21116323	0.979000	0.34478	0.445000	0.26908	0.012000	0.07955	0.358000	0.20216	-0.064000	0.13043	0.533000	0.62120	AAA		PASS	0.438	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			15	33	15	33	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22161125	22161125	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:22161125T>A	ENST00000389398.5	+	29	3098	c.3002T>A	c.(3001-3003)tTt>tAt	p.F1001Y	VWA3A_ENST00000389397.4_Missense_Mutation_p.F103Y|VWA3A_ENST00000563755.1_Missense_Mutation_p.F103Y	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1001	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.F197Y(1)|p.F1001Y(1)|p.F103Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGCTCAGCTTTGCAGAGAGC	0.532																																						uc010vbq.1																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(3001-3003)TTT>TAT		von Willebrand factor A domain containing 3A							40.0	40.0	40.0					16																	22161125		1958	4146	6104	SO:0001583	missense	146177					extracellular region		g.chr16:22161125T>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3002T>A	16.37:g.22161125T>A	ENSP00000374049:p.Phe1001Tyr					VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.F79Y|VWA3A_uc010bxe.1_Missense_Mutation_p.F103Y	p.F1001Y	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3098	+			1001			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.3002T>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432483	0.83776	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.27720	1.65;1.65	5.42	5.42	0.78866	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.89785	3.06	0.46701	D	0.999166	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.70941	-0.4735	10	0.87932	D	0	.	13.4246	0.61018	0.0:0.0:0.0:1.0	.	1001;103	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	Y	1001;103;624	ENSP00000374049:F1001Y;ENSP00000374048:F103Y	ENSP00000299840:F624Y	F	+	2	0	VWA3A	22068626	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.146000	0.58072	2.035000	0.60131	0.533000	0.62120	TTT		PASS	0.532	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			4	21	4	21	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23700940	23700940	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:23700940C>T	ENST00000300093.4	+	9	1662	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	517	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.T517T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GGTTCCGCACCCGCAGCGCCA	0.627																																					Colon(12;240 564 27038 33155)	uc002dlz.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|skin(1)	2						c.(1549-1551)ACC>ACT		polo-like kinase 1							32.0	31.0	32.0					16																	23700940		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700940C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1551C>T	16.37:g.23700940C>T							p.T517T	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1604	+			517			POLO box 2.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1551C>T	CCDS10616.1																																																																																				PASS	0.627	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		4	11	4	11	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24196821	24196821	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:24196821C>T	ENST00000321728.7	+	15	1830	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	PRKCB_ENST00000303531.7_Missense_Mutation_p.S552F	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S552F(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTCTTCCAATCCATCATGGAA	0.527																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1654-1656)TCC>TTC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						148.0	120.0	130.0					16																	24196821		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196821C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1655C>T	16.37:g.24196821C>T	ENSP00000318315:p.Ser552Phe					PRKCB_uc002dme.2_Missense_Mutation_p.S552F	p.S552F	NM_212535	NP_997700	P05771	KPCB_HUMAN			15	1852	+			552			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1655C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149619	0.94645	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.53423	0.62;0.62	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.75484	0.984;0.986	T	0.65619	-0.6124	10	0.87932	D	0	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	552;552	P05771-2;P05771	.;KPCB_HUMAN	F	552	ENSP00000318315:S552F;ENSP00000305355:S552F	ENSP00000305355:S552F	S	+	2	0	PRKCB	24104322	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	TCC		PASS	0.527	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		12	45	12	45	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24567164	24567164	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:24567164C>T	ENST00000319715.4	+	6	892	c.460C>T	c.(460-462)Cca>Tca	p.P154S	RBBP6_ENST00000348022.2_Missense_Mutation_p.P154S|RBBP6_ENST00000381039.3_Missense_Mutation_p.P154S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	154					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P154S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACCTCTAGGTCCACCACCTCC	0.398																																						uc002dmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(460-462)CCA>TCA		retinoblastoma-binding protein 6 isoform 1							81.0	78.0	79.0					16																	24567164		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567164C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.460C>T	16.37:g.24567164C>T	ENSP00000317872:p.Pro154Ser					RBBP6_uc010vcb.1_Missense_Mutation_p.P21S|RBBP6_uc002dmi.2_Missense_Mutation_p.P154S|RBBP6_uc010bxr.2_Missense_Mutation_p.P154S|RBBP6_uc002dmk.2_Missense_Mutation_p.P21S	p.P154S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	6	1500	+			154					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.460C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624238	0.96660	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.76316	-1.01;-1.01;-1.01	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	L	0.55481	1.735	0.80722	D	1	P;D;D	0.89917	0.94;1.0;1.0	P;D;D	0.83275	0.6;0.996;0.996	D	0.83854	0.0264	10	0.38643	T	0.18	-14.0689	20.3011	0.98612	0.0:1.0:0.0:0.0	.	154;154;154	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	S	154	ENSP00000370427:P154S;ENSP00000317872:P154S;ENSP00000316291:P154S	ENSP00000317872:P154S	P	+	1	0	RBBP6	24474665	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	4.055000	0.57441	2.804000	0.96469	0.650000	0.86243	CCA		PASS	0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		8	32	8	32	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24831651	24831651	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:24831651T>A	ENST00000395799.3	+	22	5401	c.5272T>A	c.(5272-5274)Tgg>Agg	p.W1758R	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.W236R|TNRC6A_ENST00000315183.7_Missense_Mutation_p.W1709R	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1758	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W1758R(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGTGGAGGATGGGGAAATTC	0.502																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5272-5274)TGG>AGG		trinucleotide repeat containing 6A							87.0	87.0	87.0					16																	24831651		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24831651T>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5272T>A	16.37:g.24831651T>A	ENSP00000379144:p.Trp1758Arg					TNRC6A_uc010bxs.2_Missense_Mutation_p.W1505R|TNRC6A_uc002dmn.2_Missense_Mutation_p.W1456R|TNRC6A_uc002dmo.2_Missense_Mutation_p.W1397R|TNRC6A_uc002dmr.2_5'Flank	p.W1758R	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	22	5386	+			1758			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5272T>A	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.191857|4.191857	0.78902|0.78902	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T;T	.|0.40225	.|1.04;1.04;1.04	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.46819|0.46819	1.47|1.47	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.85130	.|0.931;0.997	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.87932	.|D	.|0	-2.2285|-2.2285	12.4499|12.4499	0.55671|0.55671	0.0:0.0:0.1397:0.8602|0.0:0.0:0.1397:0.8602	.|.	.|1709;1758	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	K|R	648|1709;1758;236	.|ENSP00000326900:W1709R;ENSP00000379144:W1758R;ENSP00000403015:W236R	.|ENSP00000326900:W1709R	M|W	+|+	2|1	0|0	TNRC6A|TNRC6A	24739152|24739152	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.183000|6.183000	0.72002|0.72002	2.151000|2.151000	0.67156|0.67156	0.533000|0.533000	0.62120|0.62120	ATG|TGG		PASS	0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		15	36	15	36	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27363934	27363934	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:27363934C>T	ENST00000395762.2	+	7	846	c.587C>T	c.(586-588)tCc>tTc	p.S196F	IL4R_ENST00000449195.1_Missense_Mutation_p.S196F|IL4R_ENST00000170630.2_Missense_Mutation_p.S196F|IL4R_ENST00000543915.2_Missense_Mutation_p.S196F|IL4R_ENST00000380922.3_Missense_Mutation_p.S181F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	196	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.S196F(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTGGGATTTCCTACAGGGCA	0.557																																						uc002don.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)|skin(1)	2						c.(586-588)TCC>TTC		interleukin 4 receptor alpha chain isoform a							116.0	114.0	115.0					16																	27363934		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363934C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.587C>T	16.37:g.27363934C>T	ENSP00000379111:p.Ser196Phe					IL4R_uc002dom.2_Missense_Mutation_p.S196F|IL4R_uc002dop.3_Missense_Mutation_p.S181F|IL4R_uc010bxy.2_Missense_Mutation_p.S196F|IL4R_uc002doo.2_Missense_Mutation_p.S36F	p.S196F	NM_000418	NP_000409	P24394	IL4RA_HUMAN			7	829	+			196			Extracellular (Potential).|Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.587C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	5.046	0.194163	0.09599	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	3.93	-5.53	0.02552	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.347600	0.01113	N	0.005610	T	0.51143	0.1657	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.16603	0.015;0.018;0.018;0.013	B;B;B;B	0.11329	0.002;0.004;0.004;0.006	T	0.23368	-1.0190	10	0.48119	T	0.1	-17.7881	1.305	0.02086	0.1374:0.1805:0.2723:0.4098	.	181;196;196;196	B4E076;B9EGC0;P24394;P24394-2	.;.;IL4RA_HUMAN;.	F	196;196;196;196;181;196	ENSP00000410322:S196F;ENSP00000379111:S196F;ENSP00000441667:S196F;ENSP00000370309:S181F;ENSP00000170630:S196F	ENSP00000170630:S196F	S	+	2	0	IL4R	27271435	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.960000	0.03849	-1.024000	0.03338	0.555000	0.69702	TCC		PASS	0.557	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			20	37	20	37	---	---	---	---
IL21R	50615	broad.mit.edu	37	16	27460557	27460557	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:27460557G>A	ENST00000337929.3	+	9	2043	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	IL21R_ENST00000395754.4_Missense_Mutation_p.V524M|IL21R_ENST00000564089.1_Missense_Mutation_p.V524M|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.V524M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	524					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.V524M(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCGCCAGTGGGTGGTCATTCC	0.652			T	BCL6	NHL																																	uc002doq.1				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(1570-1572)GTG>ATG		interleukin 21 receptor precursor							31.0	30.0	30.0					16																	27460557		2026	4076	6102	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460557G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1570G>A	16.37:g.27460557G>A	ENSP00000338010:p.Val524Met					IL21R_uc002dor.1_Missense_Mutation_p.V524M|IL21R_uc002dos.1_Missense_Mutation_p.V524M|uc002dot.2_RNA	p.V524M	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1803	+			524			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1570G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068930	0.76301	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.54279	0.58;0.58;0.58	4.9	4.9	0.64082	.	0.094927	0.44285	D	0.000462	T	0.69441	0.3111	M	0.69823	2.125	0.37819	D	0.928327	D	0.89917	1.0	D	0.78314	0.991	T	0.72849	-0.4168	10	0.40728	T	0.16	-28.4736	13.5917	0.61964	0.0:0.0:1.0:0.0	.	524	Q9HBE5	IL21R_HUMAN	M	524	ENSP00000338010:V524M;ENSP00000379104:V524M;ENSP00000379103:V524M	ENSP00000338010:V524M	V	+	1	0	IL21R	27368058	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.762000	0.55250	2.271000	0.75665	0.561000	0.74099	GTG		PASS	0.652	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		4	9	4	9	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27506152	27506152	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:27506152G>A	ENST00000356183.4	-	16	2725	c.2710C>T	c.(2710-2712)Ctc>Ttc	p.L904F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L904F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	904					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.L904F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGCTGACGAGAGCCCAGCCA	0.532																																						uc002dov.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2710-2712)CTC>TTC		general transcription factor IIIC, polypeptide							92.0	75.0	80.0					16																	27506152		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27506152G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2710C>T	16.37:g.27506152G>A	ENSP00000348510:p.Leu904Phe					GTF3C1_uc002dou.2_Missense_Mutation_p.L904F	p.L904F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			16	2750	-			904					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.2710C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065834	0.76187	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.29655	1.56	5.78	4.81	0.61882	.	0.203385	0.43919	D	0.000511	T	0.59004	0.2162	M	0.81497	2.545	0.45502	D	0.998463	D;D	0.89917	1.0;1.0	D;D	0.91635	0.981;0.999	T	0.65825	-0.6074	10	0.66056	D	0.02	-14.5365	16.399	0.83632	0.0:0.1321:0.8679:0.0	.	904;904	Q12789;Q12789-3	TF3C1_HUMAN;.	F	904;902	ENSP00000348510:L904F	ENSP00000348510:L904F	L	-	1	0	GTF3C1	27413653	1.000000	0.71417	0.269000	0.24586	0.902000	0.53008	4.084000	0.57650	1.407000	0.46875	0.563000	0.77884	CTC		PASS	0.532	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		7	24	7	24	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28925737	28925737	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:28925737G>A	ENST00000358201.4	-	5	1302	c.714C>T	c.(712-714)tcC>tcT	p.S238S	RABEP2_ENST00000544477.1_Silent_p.S167S|RABEP2_ENST00000357573.6_Silent_p.S238S|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	238					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.S238S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CACCGCCAAGGGAGAAGGAGG	0.682																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(712-714)TCC>TCT		rabaptin, RAB GTPase binding effector protein 2							21.0	26.0	25.0					16																	28925737		2041	4195	6236	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925737G>A	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.714C>T	16.37:g.28925737G>A						uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.S167S|RABEP2_uc010byn.2_Silent_p.S238S|RABEP2_uc002drr.2_Silent_p.S238S	p.S238S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			5	762	-			238						Silent	SNP	ENST00000358201.4	37	c.714C>T	CCDS42140.1																																																																																				PASS	0.682	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		6	16	6	16	---	---	---	---
MVP	9961	broad.mit.edu	37	16	29855860	29855860	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:29855860C>T	ENST00000357402.5	+	11	1819	c.1681C>T	c.(1681-1683)Ctc>Ttc	p.L561F	MVP_ENST00000395353.1_Missense_Mutation_p.L561F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	561					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)	p.L561F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACGGCCAAGCTCTTTTCAGT	0.552																																						uc002dui.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1681-1683)CTC>TTC		major vault protein							89.0	87.0	88.0					16																	29855860		2197	4300	6497	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855860C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1681C>T	16.37:g.29855860C>T	ENSP00000349977:p.Leu561Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.L561F|MVP_uc010vea.1_Missense_Mutation_p.L155F	p.L561F	NM_005115	NP_005106	Q14764	MVP_HUMAN			11	1765	+			561					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1681C>T	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267300	0.80469	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.48522	0.81;0.81	5.91	4.96	0.65561	Shoulder domain (1);	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.72194	-0.4364	10	0.66056	D	0.02	-17.125	14.9431	0.71009	0.0:0.8563:0.1437:0.0	.	561	Q14764	MVP_HUMAN	F	561	ENSP00000349977:L561F;ENSP00000378760:L561F	ENSP00000349977:L561F	L	+	1	0	MVP	29763361	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.679000	0.46909	1.497000	0.48584	0.655000	0.94253	CTC		PASS	0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		24	33	24	33	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998422	29998423	+	Missense_Mutation	DNP	CC	CC	TT	rs199851942		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:29998422_29998423CC>TT	ENST00000308893.4	+	16	3872_3873	c.2829_2830CC>TT	c.(2827-2832)ctCCct>ctTTct	p.P944S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P771S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P831S|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	944	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.P944S(2)|p.L943L(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCAGCCAGCTCCCTGGACTCCT	0.653																																						uc002dva.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.S943S(1)|	lung(3)	ovary(1)	1						c.(2827-2829)CTC>CTT|c.(2830-2832)CCT>TCT		TAO kinase 2 isoform 2																																				SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998422C>T|g.chr16:29998423C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	Exception_encountered	16.37:g.29998422_29998423delinsTT	ENSP00000310094:p.Pro944Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.L950L|TAOK2_uc002dvd.1_Silent_p.L770L|uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P951S|TAOK2_uc002dvd.1_Missense_Mutation_p.P771S	p.L943L|p.P944S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3612|3613	+			943|944			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent|Missense_Mutation	SNP	ENST00000308893.4	37	c.2829C>T|c.2830C>T	CCDS10663.1																																																																																				PASS	0.653	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		21|22	54|53	21	53	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998717	29998717	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:29998717C>T	ENST00000308893.4	+	16	4167	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P869S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P929S|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1042	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.P1042S(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGGTGTTCCCCTGGGCCT	0.687																																						uc002dva.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3124-3126)CCC>TCC		TAO kinase 2 isoform 2							19.0	22.0	21.0					16																	29998717		2191	4291	6482	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998717C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3124C>T	16.37:g.29998717C>T	ENSP00000310094:p.Pro1042Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P1049S|TAOK2_uc002dvd.1_Missense_Mutation_p.P869S	p.P1042S	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			16	3907	+			1042			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3124C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478192	0.63849	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	D;D	0.90676	-2.55;-2.71	4.8	4.8	0.61643	.	0.443560	0.23083	N	0.052124	D	0.90776	0.7104	N	0.19112	0.55	0.41280	D	0.986901	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.992	D	0.89628	0.3853	9	.	.	.	.	14.8685	0.70437	0.0:1.0:0.0:0.0	.	1233;869;1042	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	S	1042;929	ENSP00000310094:P1042S;ENSP00000440336:P929S	.	P	+	1	0	TAOK2	29906218	1.000000	0.71417	0.999000	0.59377	0.755000	0.42902	5.967000	0.70403	2.504000	0.84457	0.563000	0.77884	CCC		PASS	0.687	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	4	5	4	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30123683	30123683	+	Missense_Mutation	SNP	G	G	A	rs535489009		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30123683G>A	ENST00000406256.3	-	5	804	c.427C>T	c.(427-429)Cca>Tca	p.P143S	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	143	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.P143S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTGTCCTTGGAAACCTCTGG	0.617											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CCA>TCA		glycerophosphodiester phosphodiesterase domain							95.0	89.0	91.0					16																	30123683		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123683G>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.427C>T	16.37:g.30123683G>A	ENSP00000384363:p.Pro143Ser		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.P81S|LOC100271831_uc010vei.1_5'Flank	p.P143S	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			5	506	-			143			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.427C>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848127	0.71603	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.28255	1.62	5.79	5.79	0.91817	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.63165	0.2488	M	0.89840	3.065	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.67872	-0.5558	10	0.51188	T	0.08	.	15.5223	0.75875	0.0:0.0:1.0:0.0	.	143	Q7L5L3	GDPD3_HUMAN	S	143;81	ENSP00000384363:P143S	ENSP00000353909:P81S	P	-	1	0	GDPD3	30031184	1.000000	0.71417	0.717000	0.30585	0.264000	0.26372	6.958000	0.76025	2.726000	0.93360	0.655000	0.94253	CCA		PASS	0.617	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		9	31	9	31	---	---	---	---
SEPT1	1731	broad.mit.edu	37	16	30390855	30390855	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30390855C>T	ENST00000571393.1	-	9	847	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	SEPT1_ENST00000321367.3_Splice_Site_p.E268K|SEPT1_ENST00000605106.1_Splice_Site_p.E226K			Q8WYJ6	SEPT1_HUMAN	septin 1	221	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E221K(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGGATGCTTTCCTGGAGGGCA	0.637																																						uc002dxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)GAA>AAA		septin 1							57.0	48.0	51.0					16																	30390855		2197	4300	6497	SO:0001630	splice_region_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30390855C>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	ENST00000571393.1:c.661-1G>A	16.37:g.30390855C>T						SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.E46K	p.E221K	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		9	848	-			221					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.661G>A		.	.	.	.	.	.	.	.	.	.	C	17.31	3.356830	0.61293	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.73	4.75	0.60458	.	0.350200	0.24841	N	0.035174	T	0.47507	0.1449	L	0.41632	1.29	0.49389	D	0.999788	B	0.18461	0.028	B	0.21546	0.035	T	0.44620	-0.9316	9	0.52906	T	0.07	.	8.7415	0.34560	0.0:0.7609:0.1508:0.0883	.	221	Q8WYJ6	SEPT1_HUMAN	K	221	.	ENSP00000324511:E221K	E	-	1	0	SEPT1	30298356	0.996000	0.38824	0.983000	0.44433	0.593000	0.36681	3.211000	0.51137	1.356000	0.45884	0.655000	0.94253	GAA		PASS	0.637	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838	Missense_Mutation	8	19	8	19	---	---	---	---
ZNF764	92595	broad.mit.edu	37	16	30566770	30566770	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30566770G>A	ENST00000252797.2	-	3	1052	c.972C>T	c.(970-972)ttC>ttT	p.F324F	ZNF764_ENST00000395091.2_Silent_p.F323F|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	324					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.F324F(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCTCTGGCGGAAGCAGCGCC	0.731																																						uc002dyq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(970-972)TTC>TTT		zinc finger protein 764							8.0	10.0	9.0					16																	30566770		2175	4251	6426	SO:0001819	synonymous_variant	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566770G>A	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.972C>T	16.37:g.30566770G>A						ZNF764_uc002dyr.1_Silent_p.F323F	p.F324F	NM_033410	NP_219363	Q96H86	ZN764_HUMAN			3	1053	-			324			C2H2-type 6.		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	ENST00000252797.2	37	c.972C>T	CCDS10683.1																																																																																				PASS	0.731	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		5	6	5	6	---	---	---	---
ZNF785	146540	broad.mit.edu	37	16	30594078	30594078	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30594078G>A	ENST00000395216.2	-	3	1180	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	ZNF785_ENST00000470110.1_Missense_Mutation_p.P326S|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	341					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.P341S(1)		endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TCCACGCAGGGGAAGGGCCGG	0.672																																						uc002dyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)CCC>TCC		zinc finger protein 785							48.0	53.0	51.0					16																	30594078		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594078G>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.1021C>T	16.37:g.30594078G>A	ENSP00000378642:p.Pro341Ser					uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.P326S|ZNF785_uc010vez.1_Missense_Mutation_p.P306S	p.P341S	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN			3	1099	-			341			C2H2-type 7.		O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.1021C>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	g	10.72	1.429752	0.25726	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.19105	2.17;2.17	3.5	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11110	0.0271	N	0.10733	0.035	0.09310	N	1	B;B;B	0.19200	0.011;0.034;0.009	B;B;B	0.31290	0.026;0.127;0.015	T	0.35968	-0.9767	9	0.59425	D	0.04	.	3.8091	0.08789	0.2502:0.3548:0.395:0.0	.	306;341;326	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	S	326;306;341	ENSP00000420340:P326S;ENSP00000378642:P341S	ENSP00000378642:P341S	P	-	1	0	ZNF785	30501579	.	.	0.001000	0.08648	0.235000	0.25334	.	.	0.042000	0.15717	0.551000	0.68910	CCC		PASS	0.672	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		5	28	5	28	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30749570	30749570	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30749570C>T	ENST00000262518.4	+	34	8594	c.8209C>T	c.(8209-8211)Cgg>Tgg	p.R2737W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2579W|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2675W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2737	Pro-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.R2737W(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)			AGGGACTGGTCGGCCAGGACA	0.617																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(8209-8211)CGG>TGG		Snf2-related CBP activator protein							62.0	58.0	59.0					16																	30749570		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.chr16:30749570C>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.8209C>T	16.37:g.30749570C>T	ENSP00000262518:p.Arg2737Trp					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2532W	p.R2737W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8594	+			2737			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8209C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	6.598	0.478737	0.12521	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92805	-3.09;-3.11;-3.1	5.04	-1.11	0.09840	.	0.138844	0.32106	N	0.006574	D	0.84142	0.5407	N	0.08118	0	0.09310	N	1	D;D	0.59767	0.986;0.975	P;B	0.50270	0.636;0.432	T	0.79388	-0.1824	10	0.72032	D	0.01	-0.6585	9.0214	0.36202	0.6328:0.2903:0.0:0.0769	.	2675;2737	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2737;2675;2579	ENSP00000262518:R2737W;ENSP00000378499:R2675W;ENSP00000343042:R2579W	ENSP00000262518:R2737W	R	+	1	2	SRCAP	30657071	0.026000	0.19158	0.798000	0.32154	0.973000	0.67179	-0.541000	0.06099	-0.003000	0.14444	0.591000	0.81541	CGG		PASS	0.617	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		15	30	15	30	---	---	---	---
RNF40	9810	broad.mit.edu	37	16	30779730	30779730	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30779730C>T	ENST00000324685.6	+	13	2293	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	RNF40_ENST00000357890.5_Missense_Mutation_p.P520S|RNF40_ENST00000402121.3_Missense_Mutation_p.P312S|RNF40_ENST00000563683.1_Missense_Mutation_p.P580S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	620					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P620S(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACGGGAAGGTCCCAGCCTAGG	0.622																																						uc002dzq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1858-1860)CCC>TCC		ring finger protein 40							38.0	47.0	44.0					16																	30779730		2189	4282	6471	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30779730C>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1858C>T	16.37:g.30779730C>T	ENSP00000325677:p.Pro620Ser					RNF40_uc010caa.2_Missense_Mutation_p.P620S|RNF40_uc010cab.2_Missense_Mutation_p.P520S|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Missense_Mutation_p.P620S|RNF40_uc010vfb.1_Missense_Mutation_p.P312S|RNF40_uc010vfc.1_5'UTR	p.P620S	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		13	1981	+			620					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.1858C>T	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	4.097	0.015945	0.07959	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.29397	1.57;1.57;1.57	5.97	4.03	0.46877	.	0.469988	0.23985	N	0.042640	T	0.18257	0.0438	L	0.29908	0.895	0.27901	N	0.938984	B;B;B;B	0.12013	0.005;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.0;0.0	T	0.14144	-1.0483	10	0.17832	T	0.49	-10.6857	6.3928	0.21595	0.1492:0.6981:0.0:0.1527	.	312;520;620;620	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	S	620;520;312	ENSP00000325677:P620S;ENSP00000350563:P520S;ENSP00000384942:P312S	ENSP00000325677:P620S	P	+	1	0	RNF40	30687231	0.177000	0.23109	0.981000	0.43875	0.013000	0.08279	0.231000	0.17872	1.545000	0.49373	0.655000	0.94253	CCC		PASS	0.622	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		13	28	13	28	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30977242	30977242	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:30977242C>T	ENST00000262519.8	+	8	2726	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	680					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F680F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCATGTCCTTCCAGATGCAGA	0.627																																						uc002ead.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2038-2040)TTC>TTT		SET domain containing 1A							86.0	83.0	84.0					16																	30977242		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977242C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2040C>T	16.37:g.30977242C>T							p.F680F	NM_014712	NP_055527	O15047	SET1A_HUMAN			8	2726	+			680					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.2040C>T	CCDS32435.1																																																																																				PASS	0.627	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		28	51	28	51	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072431	31072432	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:31072431_31072432GG>AA	ENST00000538906.1	-	3	2601_2602	c.1817_1818CC>TT	c.(1816-1818)cCC>cTT	p.P606L	ZNF668_ENST00000300849.4_Missense_Mutation_p.P606L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P606L|ZNF668_ENST00000539836.3_Missense_Mutation_p.P629L|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.P606L|ZNF668_ENST00000426488.2_Missense_Mutation_p.P629L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	606					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.P606L(2)|p.P629L(2)|p.P629P(1)|p.P606P(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AAGCCACCAGGGGCTCCAGGGG	0.668																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	breast(4)	4						c.(1816-1818)CCC>CCT|c.(1816-1818)CCC>CTC		zinc finger protein 668																																				SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072431G>A|g.chr16:31072432G>A		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1817_1818delinsAA	16.37:g.31072431_31072432delinsAA	ENSP00000440149:p.Pro606Leu					ZNF668_uc002eao.2_Silent_p.P606P|ZNF668_uc002eao.2_Missense_Mutation_p.P606L	p.P606P|p.P606L	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			3	2175|2174	-			606					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent|Missense_Mutation	SNP	ENST00000538906.1	37	c.1818C>T|c.1817C>T	CCDS10701.1																																																																																				PASS	0.668	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		14|15	21|22	14	21	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31336706	31336706	+	Missense_Mutation	SNP	G	G	A	rs201299141		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:31336706G>A	ENST00000287497.8	+	20	2561	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	ITGAM_ENST00000544665.3_Missense_Mutation_p.R830Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	829					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.R829Q(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTCCTACCGGAAGGTGTCC	0.572																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(2485-2487)CGG>CAG		integrin alpha M isoform 2 precursor							70.0	74.0	73.0					16																	31336706		2106	4231	6337	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31336706G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2486G>A	16.37:g.31336706G>A	ENSP00000287497:p.Arg829Gln					ITGAM_uc002ebr.2_Missense_Mutation_p.R830Q|ITGAM_uc010can.2_Missense_Mutation_p.R235Q|ITGAM_uc002ebs.1_Missense_Mutation_p.R235Q|ITGAM_uc010vfj.1_RNA	p.R829Q	NM_000632	NP_000623	P11215	ITAM_HUMAN			20	2584	+			829			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2486G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302889	0.60195	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	5.03	3.08	0.35506	Integrin alpha-2 (1);	.	.	.	.	T	0.70736	0.3258	M	0.88570	2.965	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.988;0.988	T	0.60752	-0.7201	9	0.87932	D	0	.	10.1247	0.42643	0.1651:0.0:0.8349:0.0	.	235;829;829	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	Q	830;829	ENSP00000441691:R830Q;ENSP00000287497:R829Q	ENSP00000287497:R829Q	R	+	2	0	ITGAM	31244207	1.000000	0.71417	0.538000	0.28064	0.668000	0.39293	3.964000	0.56780	0.710000	0.31997	0.655000	0.94253	CGG		PASS	0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		13	26	13	26	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31425842	31425842	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:31425842C>T	ENST00000389202.2	+	17	2116	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	689					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F689F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGCCATTTTCAATGAAACCA	0.493																																						uc002ebv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2065-2067)TTC>TTT		integrin, alpha D precursor							195.0	215.0	208.0					16																	31425842		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425842C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2067C>T	16.37:g.31425842C>T						ITGAD_uc010cap.1_Silent_p.F690F	p.F689F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			17	2116	+			689			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2067C>T	CCDS32438.1																																																																																				PASS	0.493	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		65	185	65	185	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31471195	31471195	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:31471195C>T	ENST00000563544.1	+	2	896	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ARMC5_ENST00000457010.2_Missense_Mutation_p.S117F|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Missense_Mutation_p.S212F|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000538189.1_Missense_Mutation_p.S149F|ARMC5_ENST00000268314.4_Missense_Mutation_p.S117F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	117								p.S212F(1)|p.S117F(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGTCGTCGTCTAGTCCTACG	0.736																																						uc002ecc.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(349-351)TCT>TTT		armadillo repeat containing 5 isoform a							14.0	15.0	15.0					16																	31471195		1862	4027	5889	SO:0001583	missense	79798						binding	g.chr16:31471195C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.350C>T	16.37:g.31471195C>T	ENSP00000456877:p.Ser117Phe					ARMC5_uc010vfn.1_Missense_Mutation_p.S212F|ARMC5_uc010vfo.1_Missense_Mutation_p.S149F|ARMC5_uc002eca.3_Missense_Mutation_p.S117F|ARMC5_uc010vfp.1_Missense_Mutation_p.S117F|ARMC5_uc002ecb.2_Missense_Mutation_p.S117F	p.S117F	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	879	+			117					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.350C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	C	5.464	0.270684	0.10349	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.08	2.09	0.27110	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.31104	0.0786	N	0.08118	0	0.18873	N	0.999985	B;B;B;B;P	0.39157	0.078;0.078;0.372;0.078;0.662	B;B;B;B;B	0.34242	0.035;0.035;0.088;0.022;0.178	T	0.12116	-1.0560	9	0.54805	T	0.06	-16.0803	5.0122	0.14319	0.0:0.6615:0.2162:0.1223	.	149;149;212;117;117	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	F	212;149;117;117	ENSP00000386125:S212F;ENSP00000443995:S149F;ENSP00000268314:S117F;ENSP00000399561:S117F	ENSP00000268314:S117F	S	+	2	0	ARMC5	31378696	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.890000	0.28295	0.371000	0.24564	-0.676000	0.03789	TCT		PASS	0.736	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	3	3	3	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46943767	46943767	+	Missense_Mutation	SNP	C	C	T	rs116572438		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:46943767C>T	ENST00000340124.4	+	6	860	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	GPT2_ENST00000440783.2_Missense_Mutation_p.R150W	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	250					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.R250W(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TGAGCTCCGGCGGGCGGTGCA	0.552																																						uc002eel.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-750)CGG>TGG		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						85.0	79.0	81.0					16																	46943767		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943767C>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.748C>T	16.37:g.46943767C>T	ENSP00000345282:p.Arg250Trp					GPT2_uc002eem.2_Missense_Mutation_p.R150W	p.R250W	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			6	842	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	250					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.748C>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427632	0.62733	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.23950	2.14;1.88	5.15	5.15	0.70609	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74754	-0.3558	10	0.87932	D	0	.	13.7459	0.62874	0.1536:0.8464:0.0:0.0	.	250	Q8TD30	ALAT2_HUMAN	W	250;150	ENSP00000345282:R250W;ENSP00000413804:R150W	ENSP00000345282:R250W	R	+	1	2	GPT2	45501268	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	1.933000	0.40153	2.677000	0.91161	0.561000	0.74099	CGG		PASS	0.552	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			7	32	7	32	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47486699	47486699	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:47486699G>A	ENST00000320640.6	-	4	658	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ITFG1_ENST00000544001.2_Missense_Mutation_p.P31S|RNA5SP424_ENST00000390988.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	144						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P144S(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATATTGTTAGGATCTGCAAAA	0.289																																						uc002eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(430-432)CCT>TCT		integrin alpha FG-GAP repeat containing 1							39.0	39.0	39.0					16																	47486699		2198	4290	6488	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47486699G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.430C>T	16.37:g.47486699G>A	ENSP00000319918:p.Pro144Ser					ITFG1_uc010vgh.1_Missense_Mutation_p.P31S|ITFG1_uc010cbf.1_Missense_Mutation_p.P31S	p.P144S	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			4	492	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	144					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.430C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	g	0.175	-1.067593	0.01934	.	.	ENSG00000129636	ENST00000320640;ENST00000544001	T	0.22134	1.97	5.74	2.76	0.32466	.	0.382964	0.28403	N	0.015469	T	0.11922	0.0290	L	0.40543	1.245	0.21652	N	0.999606	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.35151	-0.9800	10	0.08599	T	0.76	-11.8866	2.9868	0.05971	0.1335:0.1223:0.4917:0.2525	.	31;31;144	F5GXC5;B4DXC2;Q8TB96	.;.;TIP_HUMAN	S	144;31	ENSP00000319918:P144S	ENSP00000319918:P144S	P	-	1	0	ITFG1	46044200	0.991000	0.36638	0.993000	0.49108	0.340000	0.28889	0.087000	0.14958	0.383000	0.24910	-0.738000	0.03535	CCT		PASS	0.289	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		4	13	4	13	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48180299	48180299	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:48180299C>T	ENST00000311303.3	-	1	382	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ABCC12_ENST00000416054.1_Missense_Mutation_p.D13N|ABCC12_ENST00000448542.1_Missense_Mutation_p.D13N	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	13						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D13N(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTCGCTGGTCCAGATCTGAG	0.557																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(37-39)GAC>AAC		ATP-binding cassette protein C12							117.0	104.0	108.0					16																	48180299		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48180299C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.37G>A	16.37:g.48180299C>T	ENSP00000311030:p.Asp13Asn					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.D13N|ABCC12_uc010vgj.1_RNA	p.D13N	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			1	383	-		all_cancers(37;0.0474)|all_lung(18;0.047)	13					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.37G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390087	0.61956	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.93659	-2.91;-3.16;-3.26;-2.9	5.55	4.6	0.57074	.	0.114452	0.56097	D	0.000029	D	0.85652	0.5746	N	0.24115	0.695	0.31236	N	0.695776	B;B	0.27910	0.193;0.009	B;B	0.23716	0.048;0.012	T	0.78478	-0.2188	10	0.09590	T	0.72	.	11.9119	0.52743	0.1737:0.8263:0.0:0.0	.	13;13	Q96J65-2;Q96J65	.;MRP9_HUMAN	N	13	ENSP00000311030:D13N;ENSP00000401855:D13N;ENSP00000413046:D13N;ENSP00000436647:D13N	ENSP00000311030:D13N	D	-	1	0	ABCC12	46737800	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.937000	0.40193	1.319000	0.45190	0.609000	0.83330	GAC		PASS	0.557	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	26	14	26	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670785	49670786	+	Missense_Mutation	DNP	GG	GG	AA	rs138951619		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:49670785_49670786GG>AA	ENST00000561648.1	-	4	2330_2331	c.2277_2278CC>TT	c.(2275-2280)ttCCgc>ttTTgc	p.R760C	ZNF423_ENST00000563137.2_Missense_Mutation_p.R700C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R643C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R700C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R643C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R700C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R760C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	760					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R760C(4)|p.F759F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCTCCTTGCGGAAGTCCCAGT	0.594																																						uc002efs.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(2278-2280)CGC>TGC|c.(2275-2277)TTC>TTT		zinc finger protein 423																																				SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670785G>A|g.chr16:49670786G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2277_2278delinsAA	16.37:g.49670785_49670786delinsAA	ENSP00000455426:p.Arg760Cys					ZNF423_uc010vgn.1_Missense_Mutation_p.R643C|ZNF423_uc010vgn.1_Silent_p.F642F	p.R760C|p.F759F	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	2576|2575	-		all_cancers(37;0.0155)	760|759			C2H2-type 18.		O94860|Q76N04|Q9NZ13	Missense_Mutation|Silent	SNP	ENST00000561648.1	37	c.2278C>T|c.2277C>T	CCDS32445.1																																																																																				PASS	0.594	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	21|22	6	21	---	---	---	---
PAPD5	64282	broad.mit.edu	37	16	50258577	50258577	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:50258577T>C	ENST00000561678.1	+	7	1090	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.V370A|PAPD5_ENST00000436909.3_Missense_Mutation_p.V449A			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	370	PAP-associated.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.V449A(1)|p.V82A(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGTAACGATGTTGGAAGGAGT	0.418																																						uc010vgo.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1345-1347)GTT>GCT		PAP associated domain containing 5 isoform a							140.0	133.0	136.0					16																	50258577		1932	4180	6112	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50258577T>C	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1016T>C	16.37:g.50258577T>C	ENSP00000455837:p.Val339Ala					PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.V240A|PAPD5_uc002ega.2_Missense_Mutation_p.V240A	p.V449A	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	9	1381	+		all_cancers(37;0.0452)	370					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1346T>C		.	.	.	.	.	.	.	.	.	.	T	17.18	3.323488	0.60634	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.58060	0.36;0.36	5.97	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	L	0.52011	1.625	0.80722	D	1	B;B	0.33212	0.33;0.402	B;B	0.36335	0.222;0.17	T	0.50659	-0.8802	10	0.87932	D	0	.	11.7053	0.51593	0.0:0.074:0.0:0.926	.	449;370	B4DV38;Q8NDF8	.;PAPD5_HUMAN	A	449;370	ENSP00000396995:V449A;ENSP00000350054:V370A	ENSP00000350054:V370A	V	+	2	0	PAPD5	48816078	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.881000	0.63114	0.953000	0.37825	0.482000	0.46254	GTT		PASS	0.418	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		31	37	31	37	---	---	---	---
BRD7	29117	broad.mit.edu	37	16	50388743	50388743	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:50388743G>A	ENST00000394688.3	-	3	508	c.349C>T	c.(349-351)Cct>Tct	p.P117S	BRD7_ENST00000394689.2_Missense_Mutation_p.P117S|BRD7_ENST00000401491.3_5'UTR|snoU13_ENST00000459559.1_RNA			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	117					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P117S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGCTTCTCAGGAGGCAAGTCT	0.448																																						uc002egf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CCT>TCT		bromodomain containing 7							92.0	100.0	97.0					16																	50388743		2198	4300	6498	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50388743G>A	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.349C>T	16.37:g.50388743G>A	ENSP00000378180:p.Pro117Ser					BRD7_uc002ege.1_Missense_Mutation_p.P117S	p.P117S	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN			4	416	-		all_cancers(37;0.0127)	117					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.349C>T	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742627	0.49151	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.17370	2.28;2.28	5.74	5.74	0.90152	Bromodomain (1);	0.307947	0.37053	N	0.002273	T	0.16128	0.0388	L	0.51422	1.61	0.42183	D	0.991699	P;P	0.38078	0.483;0.617	B;B	0.30855	0.057;0.121	T	0.03008	-1.1083	10	0.30854	T	0.27	-22.6884	15.4203	0.75006	0.0:0.1384:0.8616:0.0	.	117;117	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	S	117	ENSP00000378180:P117S;ENSP00000378181:P117S	ENSP00000378180:P117S	P	-	1	0	BRD7	48946244	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	6.780000	0.75063	2.715000	0.92844	0.655000	0.94253	CCT		PASS	0.448	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		22	68	22	68	---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707814	50707814	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:50707814C>T	ENST00000330943.4	-	4	625	c.454G>A	c.(454-456)Gag>Aag	p.E152K	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	152	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.E152K(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGATCATCTCCTCAGCGAAG	0.622																																						uc002egk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)GAG>AAG		sorting nexin 20 isoform 1							64.0	59.0	61.0					16																	50707814		2198	4300	6498	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707814C>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.454G>A	16.37:g.50707814C>T	ENSP00000332062:p.Glu152Lys					SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	p.E152K	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN			4	627	-			152			PX.		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.454G>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061193	0.76187	.	.	ENSG00000167208	ENST00000330943	T	0.32753	1.44	5.53	5.53	0.82687	Phox homologous domain (5);	0.106315	0.64402	D	0.000006	T	0.50017	0.1591	L	0.54863	1.705	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.46938	-0.9155	10	0.62326	D	0.03	-23.3085	17.634	0.88117	0.0:1.0:0.0:0.0	.	152	Q7Z614	SNX20_HUMAN	K	152	ENSP00000332062:E152K	ENSP00000332062:E152K	E	-	1	0	SNX20	49265315	1.000000	0.71417	0.622000	0.29159	0.173000	0.22820	6.934000	0.75880	2.607000	0.88179	0.561000	0.74099	GAG		PASS	0.622	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		12	26	12	26	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50744674	50744674	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:50744674C>T	ENST00000300589.2	+	4	957	c.852C>T	c.(850-852)acC>acT	p.T284T	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	284					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.T284T(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCAGCACCCCTGGCCACC	0.642																																						uc002egm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(850-852)ACC>ACT		nucleotide-binding oligomerization domain							38.0	39.0	38.0					16																	50744674		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744674C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.852C>T	16.37:g.50744674C>T						NOD2_uc010cbk.1_Silent_p.T257T|NOD2_uc002egl.1_Silent_p.T62T|NOD2_uc010cbl.1_Silent_p.T62T|NOD2_uc010cbm.1_Silent_p.T62T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.T284T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	957	+		all_cancers(37;0.0156)	284					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.852C>T	CCDS10746.1																																																																																				PASS	0.642	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		5	8	5	8	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50810116	50810116	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:50810116C>T	ENST00000427738.3	+	6	1154	c.949C>T	c.(949-951)Ccc>Tcc	p.P317S	CYLD_ENST00000566206.1_Missense_Mutation_p.P314S|CYLD_ENST00000569418.1_Missense_Mutation_p.P314S|CYLD_ENST00000540145.1_Missense_Mutation_p.P317S|CYLD_ENST00000568704.2_Missense_Mutation_p.P314S|CYLD_ENST00000398568.2_Missense_Mutation_p.P314S|CYLD_ENST00000311559.9_Missense_Mutation_p.P317S|CYLD_ENST00000564326.1_Missense_Mutation_p.P314S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	317	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.P317S(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGAGGCCTCCCAAACTTGC	0.383			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(949-951)CCC>TCC		ubiquitin carboxyl-terminal hydrolase CYLD							104.0	103.0	104.0					16																	50810116		1860	4096	5956	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50810116C>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.949C>T	16.37:g.50810116C>T	ENSP00000392025:p.Pro317Ser					CYLD_uc002egn.1_Missense_Mutation_p.P314S|CYLD_uc002ego.2_Missense_Mutation_p.P314S|CYLD_uc010cbs.1_Missense_Mutation_p.P314S|CYLD_uc002egq.1_Missense_Mutation_p.P314S|CYLD_uc002egr.1_Missense_Mutation_p.P314S|CYLD_uc002egs.1_Missense_Mutation_p.P314S	p.P317S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			7	1364	+		all_cancers(37;0.0156)	317			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.949C>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776666	0.70107	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.18502	2.21;2.21;2.21	6.17	6.17	0.99709	.	0.105277	0.64402	D	0.000004	T	0.13927	0.0337	N	0.24115	0.695	0.48452	D	0.999651	P;P;P;P	0.38504	0.501;0.634;0.634;0.501	B;B;B;B	0.34242	0.086;0.178;0.178;0.086	T	0.07520	-1.0768	10	0.22109	T	0.4	-5.9021	20.8794	0.99867	0.0:1.0:0.0:0.0	.	314;317;314;317	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	S	317;317;314;314	ENSP00000445447:P317S;ENSP00000308928:P317S;ENSP00000381574:P314S	ENSP00000308928:P317S	P	+	1	0	CYLD	49367617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.383	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			13	26	13	26	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51172738	51172738	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:51172738T>C	ENST00000251020.4	-	2	3428	c.3395A>G	c.(3394-3396)aAg>aGg	p.K1132R	SALL1_ENST00000440970.1_Missense_Mutation_p.K1035R|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1132					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K1132R(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTAGTGCTGCTTGGGAGTTCT	0.562																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(3394-3396)AAG>AGG		sal-like 1 isoform a							93.0	80.0	85.0					16																	51172738		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172738T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3395A>G	16.37:g.51172738T>C	ENSP00000251020:p.Lys1132Arg					SALL1_uc010vgr.1_Missense_Mutation_p.K1035R|SALL1_uc010cbv.2_Intron	p.K1132R	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3426	-		all_cancers(37;0.0322)	1132					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3395A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628381	0.87560	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.35789	1.29;1.29	5.31	5.31	0.75309	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.52801	-0.8527	10	0.54805	T	0.06	.	15.2562	0.73588	0.0:0.0:0.0:1.0	.	1132	Q9NSC2	SALL1_HUMAN	R	1132;1035;1096	ENSP00000251020:K1132R;ENSP00000407914:K1035R	ENSP00000251020:K1132R	K	-	2	0	SALL1	49730239	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.031000	0.88826	1.998000	0.58463	0.460000	0.39030	AAG		PASS	0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	18	6	18	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51173282	51173282	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:51173282C>T	ENST00000251020.4	-	2	2884	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	SALL1_ENST00000440970.1_Missense_Mutation_p.A854T|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	951					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A951T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGGGACCGCTCTCTGTGGT	0.522																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(2851-2853)GCG>ACG		sal-like 1 isoform a							79.0	61.0	67.0					16																	51173282		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173282C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2851G>A	16.37:g.51173282C>T	ENSP00000251020:p.Ala951Thr					SALL1_uc010vgr.1_Missense_Mutation_p.A854T|SALL1_uc010cbv.2_Intron	p.A951T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2882	-		all_cancers(37;0.0322)	951					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2851G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558626	0.27827	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79653	-1.29;-1.29	5.46	5.46	0.80206	.	0.307825	0.39341	N	0.001384	T	0.73087	0.3542	L	0.38175	1.15	0.53005	D	0.99996	B	0.02656	0.0	B	0.06405	0.002	T	0.69213	-0.5204	10	0.52906	T	0.07	.	13.5899	0.61953	0.0:0.9255:0.0:0.0744	.	951	Q9NSC2	SALL1_HUMAN	T	951;854;915	ENSP00000251020:A951T;ENSP00000407914:A854T	ENSP00000251020:A951T	A	-	1	0	SALL1	49730783	1.000000	0.71417	0.223000	0.23860	0.981000	0.71138	2.147000	0.42226	2.557000	0.86248	0.455000	0.32223	GCG		PASS	0.522	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		15	31	15	31	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51173945	51173945	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:51173945C>T	ENST00000251020.4	-	2	2221	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	SALL1_ENST00000440970.1_Missense_Mutation_p.G633R|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	730					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G730R(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCCTCTCCCCAGTGTGTGTC	0.532																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(2188-2190)GGG>AGG		sal-like 1 isoform a							58.0	58.0	58.0					16																	51173945		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173945C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2188G>A	16.37:g.51173945C>T	ENSP00000251020:p.Gly730Arg					SALL1_uc010vgr.1_Missense_Mutation_p.G633R|SALL1_uc010cbv.2_Intron	p.G730R	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2219	-		all_cancers(37;0.0322)	730					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2188G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713174	0.68730	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.26223	1.75;1.75	5.3	5.3	0.74995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59506	-0.7442	10	0.72032	D	0.01	.	19.0235	0.92923	0.0:1.0:0.0:0.0	.	730	Q9NSC2	SALL1_HUMAN	R	730;633;694	ENSP00000251020:G730R;ENSP00000407914:G633R	ENSP00000251020:G730R	G	-	1	0	SALL1	49731446	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.818000	0.86416	2.490000	0.84030	0.454000	0.30748	GGG		PASS	0.532	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		9	54	9	54	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52473848	52473848	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:52473848G>A	ENST00000219746.9	-	7	1304	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TOX3_ENST00000407228.3_Silent_p.I335I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	340					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.I335I(1)|p.I340I(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GAACAGAACGGATGGTCTGGG	0.453																																						uc002egw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1018-1020)ATC>ATT		TOX high mobility group box family member 3							82.0	79.0	80.0					16																	52473848		1971	4162	6133	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473848G>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1020C>T	16.37:g.52473848G>A						TOX3_uc010vgt.1_Silent_p.I335I|TOX3_uc010vgu.1_Silent_p.I340I	p.I340I	NM_001080430	NP_001073899	O15405	TOX3_HUMAN			7	1191	-			340					B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.1020C>T	CCDS54009.1																																																																																				PASS	0.453	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		14	39	14	39	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53338389	53338389	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:53338389C>T	ENST00000398510.3	+	30	6558	c.6471C>T	c.(6469-6471)tcC>tcT	p.S2157S	CHD9_ENST00000564845.1_Silent_p.S2157S|CHD9_ENST00000447540.1_Silent_p.S2157S|CHD9_ENST00000566029.1_Silent_p.S2157S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2157	Ser-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S2157S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTCTTGCTCCCACTCTCGAT	0.443																																						uc002ehb.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(6469-6471)TCC>TCT		chromodomain helicase DNA binding protein 9							118.0	115.0	116.0					16																	53338389		2112	4241	6353	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53338389C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6471C>T	16.37:g.53338389C>T						CHD9_uc002egy.2_Silent_p.S2157S|CHD9_uc002ehc.2_Silent_p.S2157S|CHD9_uc002ehf.2_Silent_p.S1271S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S163S	p.S2157S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			30	6635	+		all_cancers(37;0.0212)	2157			Ser-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.6471C>T																																																																																					PASS	0.443	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	8	4	8	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362636	55362636	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:55362636G>A	ENST00000290552.7	+	5	2078	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	249					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R249Q(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAGGAGGCCCGGGGGCTCCGG	0.607																																						uc002ehy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(1)	6						c.(745-747)CGG>CAG		iroquois homeobox protein 6							37.0	45.0	42.0					16																	55362636		2175	4263	6438	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362636G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.746G>A	16.37:g.55362636G>A	ENSP00000290552:p.Arg249Gln					IRX6_uc002ehx.2_Missense_Mutation_p.R249Q	p.R249Q	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1279	+			249					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.746G>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500851	0.44455	.	.	ENSG00000159387	ENST00000290552	D	0.89123	-2.47	5.27	-2.58	0.06228	.	0.854162	0.10196	N	0.704079	T	0.73674	0.3617	N	0.14661	0.345	0.31147	N	0.705945	B	0.15719	0.014	B	0.04013	0.001	T	0.60606	-0.7230	10	0.23302	T	0.38	-2.2304	4.5848	0.12277	0.4502:0.301:0.2488:0.0	.	249	P78412	IRX6_HUMAN	Q	249	ENSP00000290552:R249Q	ENSP00000290552:R249Q	R	+	2	0	IRX6	53920137	0.985000	0.35326	0.030000	0.17652	0.977000	0.68977	1.163000	0.31798	-0.253000	0.09514	0.462000	0.41574	CGG		PASS	0.607	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		12	44	12	44	---	---	---	---
CES5A	221223	broad.mit.edu	37	16	55886869	55886869	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:55886869G>A	ENST00000290567.9	-	10	1318	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CES5A_ENST00000518005.1_Silent_p.I293I|CES5A_ENST00000520435.1_Silent_p.I369I|CES5A_ENST00000521992.1_Silent_p.I428I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.I399I	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	399						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.I399I(1)|p.I428I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GACTGTCTCGGATTTCAGTCA	0.483																																						uc002eip.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1195-1197)ATC>ATT		carboxylesterase 7 isoform 1							131.0	119.0	123.0					16																	55886869		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55886869G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1197C>T	16.37:g.55886869G>A						CES7_uc002eio.2_Silent_p.I399I|CES7_uc002eiq.2_Silent_p.I160I|CES7_uc002eir.2_Silent_p.I293I	p.I399I	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	10	1346	-			399					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1197C>T	CCDS45490.1																																																																																				PASS	0.483	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		17	56	17	56	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56912056	56912056	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:56912056C>T	ENST00000563236.1	+	9	1188	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A388V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A387V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A387V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	388					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A388V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTACCTGGCCATCTCAGCC	0.627																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1162-1164)GCC>GTC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						54.0	45.0	48.0					16																	56912056		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56912056C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1163C>T	16.37:g.56912056C>T	ENSP00000456149:p.Ala388Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.A388V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A387V	p.A388V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			9	1192	+			388			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1163C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	5.274	0.235992	0.10023	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.77	3.79	0.43588	Amino acid permease domain (1);	0.222326	0.46145	D	0.000313	T	0.15478	0.0373	N	0.03238	-0.38	0.32718	N	0.510739	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.20384	0.011;0.029;0.017	T	0.25572	-1.0128	9	0.06236	T	0.91	.	5.7259	0.18013	0.0:0.5051:0.3418:0.1531	.	387;388;388	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	387;388	.	ENSP00000262502:A388V	A	+	2	0	SLC12A3	55469557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.653000	0.37323	0.760000	0.33108	0.555000	0.69702	GCC		PASS	0.627	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			9	13	9	13	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56916389	56916389	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:56916389C>T	ENST00000563236.1	+	13	1674	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A550V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A549V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A549V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	550					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.A550V(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGCTTCCACGCCTCCATCACC	0.602																																						uc010ccm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1648-1650)GCC>GTC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						217.0	175.0	189.0					16																	56916389		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56916389C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1649C>T	16.37:g.56916389C>T	ENSP00000456149:p.Ala550Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.A550V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A549V	p.A550V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			13	1678	+			550			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1649C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359670	0.95854	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.82	5.82	0.92795	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	M	0.70787	2.145	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.993	D;D;D	0.72982	0.969;0.979;0.955	T	0.80553	-0.1331	9	0.87932	D	0	.	20.0925	0.97824	0.0:1.0:0.0:0.0	.	549;550;550	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	549;550	.	ENSP00000262502:A550V	A	+	2	0	SLC12A3	55473890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.721000	0.84768	2.751000	0.94390	0.555000	0.69702	GCC		PASS	0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			14	31	14	31	---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57207713	57207713	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:57207713C>T	ENST00000309137.8	-	2	312	c.54G>A	c.(52-54)gaG>gaA	p.E18E	FAM192A_ENST00000567439.1_Silent_p.E18E|FAM192A_ENST00000564108.1_Silent_p.E18E|FAM192A_ENST00000569266.1_Silent_p.E18E|FAM192A_ENST00000566077.1_Intron|FAM192A_ENST00000389447.5_Silent_p.E18E	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	18						nucleus (GO:0005634)		p.E18E(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTAGTTCTGCCTCAGACACAA	0.378																																						uc010vhk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)GAG>GAA		NEFA-interacting nuclear protein NIP30							210.0	187.0	194.0					16																	57207713		1899	4134	6033	SO:0001819	synonymous_variant	80011					nucleus		g.chr16:57207713C>T		CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.54G>A	16.37:g.57207713C>T						FAM192A_uc002ekz.3_Silent_p.E18E|FAM192A_uc002ekv.3_Intron|FAM192A_uc002ekw.3_Silent_p.E18E|FAM192A_uc002ekx.3_Silent_p.E18E|FAM192A_uc002eky.3_Silent_p.E18E|FAM192A_uc010ccx.2_Silent_p.E18E	p.E18E	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN			2	313	-			18						Silent	SNP	ENST00000309137.8	37	c.54G>A	CCDS42168.1																																																																																				PASS	0.378	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946		18	52	18	52	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57732912	57732912	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:57732912C>T	ENST00000360716.3	+	4	575	c.354C>T	c.(352-354)caC>caT	p.H118H	CCDC135_ENST00000336825.8_Silent_p.H118H|CCDC135_ENST00000394337.4_Silent_p.H118H|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		118					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.H118H(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCTTCCTGCACCCCCTGAACG	0.637																																						uc002emi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(352-354)CAC>CAT		coiled-coil domain containing 135							135.0	132.0	133.0					16																	57732912		2198	4300	6498	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57732912C>T																												ENST00000360716.3:c.354C>T	16.37:g.57732912C>T						CCDC135_uc002emj.2_Silent_p.H118H|CCDC135_uc002emk.2_Silent_p.H118H	p.H118H	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			3	443	+			118					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.354C>T	CCDS10787.1																																																																																				PASS	0.637	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			36	94	36	94	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58580634	58580634	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:58580634G>A	ENST00000317147.5	-	28	4102	c.3770C>T	c.(3769-3771)cCt>cTt	p.P1257L	CNOT1_ENST00000441024.2_Missense_Mutation_p.P1257L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P1252L|CNOT1_ENST00000245138.4_Missense_Mutation_p.P108L|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1257	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.P1257L(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATTGTCCAAGGGTTTGGTGG	0.358																																						uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3769-3771)CCT>CTT		CCR4-NOT transcription complex, subunit 1							110.0	104.0	106.0					16																	58580634		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58580634G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3770C>T	16.37:g.58580634G>A	ENSP00000320949:p.Pro1257Leu					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P1252L|CNOT1_uc002enx.2_Missense_Mutation_p.P1257L|CNOT1_uc010vik.1_Missense_Mutation_p.P214L	p.P1257L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	28	4063	-			1257					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3770C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281648	0.95489	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.15487	2.42;2.42	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.986;0.994;0.984;0.997	T	0.63014	-0.6731	10	0.87932	D	0	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	108;1257;1257;1252	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	L	1257;108;1252;1257	ENSP00000320949:P1257L;ENSP00000413113:P1257L	ENSP00000245138:P108L	P	-	2	0	CNOT1	57138135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.754000	0.94517	0.650000	0.86243	CCT		PASS	0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		8	49	8	49	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58621257	58621257	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:58621257C>T	ENST00000317147.5	-	5	702	c.370G>A	c.(370-372)Gta>Ata	p.V124I	CNOT1_ENST00000441024.2_Missense_Mutation_p.V124I|CNOT1_ENST00000569240.1_Missense_Mutation_p.V124I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	124					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.V124I(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACCTCTTGTACTTTGCTTAAT	0.333																																						uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(370-372)GTA>ATA		CCR4-NOT transcription complex, subunit 1							110.0	114.0	113.0					16																	58621257		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621257C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.370G>A	16.37:g.58621257C>T	ENSP00000320949:p.Val124Ile					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V124I|CNOT1_uc002enx.2_Missense_Mutation_p.V124I|CNOT1_uc002enz.1_Intron	p.V124I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	5	663	-			124					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.370G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697598	0.88830	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.23147	1.92;1.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	N	0.25380	0.74	0.80722	D	1	P;P;D	0.53151	0.902;0.882;0.958	D;P;P	0.64595	0.927;0.484;0.633	T	0.03240	-1.1057	9	.	.	.	-1.705	19.9601	0.97247	0.0:1.0:0.0:0.0	.	124;124;124	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	I	124	ENSP00000320949:V124I;ENSP00000413113:V124I	.	V	-	1	0	CNOT1	57178758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.720000	0.93068	0.655000	0.94253	GTA		PASS	0.333	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		31	37	31	37	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61687532	61687532	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:61687532C>T	ENST00000577390.1	-	12	3334	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	794					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.E794K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGTCACTTTCACCAACAGAG	0.448																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(2380-2382)GAA>AAA		cadherin 8, type 2 preproprotein							54.0	57.0	56.0					16																	61687532		2201	4300	6501	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687532C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2380G>A	16.37:g.61687532C>T	ENSP00000462701:p.Glu794Lys						p.E794K	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2632	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	794			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2380G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941750	0.53079	.	.	ENSG00000150394	ENST00000299345	.	.	.	5.7	5.7	0.88788	.	0.052978	0.64402	D	0.000001	T	0.67887	0.2941	L	0.60904	1.88	0.80722	D	1	B	0.23650	0.089	B	0.28385	0.089	T	0.65668	-0.6112	9	0.62326	D	0.03	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	794	P55286	CADH8_HUMAN	K	794	.	ENSP00000299345:E794K	E	-	1	0	CDH8	60245033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	GAA		PASS	0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		12	33	12	33	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61851579	61851579	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:61851579G>A	ENST00000577390.1	-	7	2035	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	CDH8_ENST00000577730.1_Missense_Mutation_p.H361Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H361Y|CDH8_ENST00000584337.1_Missense_Mutation_p.H361Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	361	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.H361Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGTCAATATGGACATTGGCT	0.468																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1081-1083)CAT>TAT		cadherin 8, type 2 preproprotein							84.0	64.0	71.0					16																	61851579		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851579G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1081C>T	16.37:g.61851579G>A	ENSP00000462701:p.His361Tyr					CDH8_uc002eoh.2_Missense_Mutation_p.H130Y	p.H361Y	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1333	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	361			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1081C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168255	0.38315	.	.	ENSG00000150394	ENST00000299345	T	0.37915	1.17	5.96	5.01	0.66863	Cadherin (4);Cadherin-like (1);	0.193737	0.53938	N	0.000048	T	0.30572	0.0769	L	0.41824	1.3	0.31989	N	0.604854	B;B	0.20261	0.043;0.014	B;B	0.26416	0.069;0.046	T	0.34850	-0.9812	10	0.42905	T	0.14	.	9.9087	0.41392	0.0692:0.0:0.7924:0.1384	.	177;361	Q3LID3;P55286	.;CADH8_HUMAN	Y	361	ENSP00000299345:H361Y	ENSP00000299345:H361Y	H	-	1	0	CDH8	60409080	0.697000	0.27767	0.991000	0.47740	0.941000	0.58515	2.898000	0.48672	1.522000	0.49001	0.655000	0.94253	CAT		PASS	0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		6	22	6	22	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65016127	65016127	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:65016127G>A	ENST00000268603.4	-	8	1692	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	CDH11_ENST00000566827.1_Silent_p.I233I|CDH11_ENST00000394156.3_Silent_p.I359I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	359	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I359I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCCATTGCTGATAAACTTCG	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1075-1077)ATC>ATT		cadherin 11, type 2 preproprotein							149.0	119.0	129.0					16																	65016127		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016127G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1077C>T	16.37:g.65016127G>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.I359I|CDH11_uc010vin.1_Silent_p.I233I|CDH11_uc002eok.1_RNA	p.I359I	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1511	-		Ovarian(137;0.0973)	359			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1077C>T	CCDS10803.1																																																																																				PASS	0.478	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		13	46	13	46	---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66759779	66759779	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:66759779G>A	ENST00000258198.2	-	12	1536	c.1330C>T	c.(1330-1332)Cct>Tct	p.P444S	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.P367S|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P444S(1)		central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGACTTCCAGGAGAGCCTGTC	0.478																																						uc002eqb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(1330-1332)CCT>TCT		dynein, cytoplasmic, light intermediate							131.0	137.0	135.0					16																	66759779		2201	4300	6501	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66759779G>A	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1330C>T	16.37:g.66759779G>A	ENSP00000258198:p.Pro444Ser					DYNC1LI2_uc010vis.1_Missense_Mutation_p.P367S	p.P444S	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	12	1361	-		Ovarian(137;0.0563)	444					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.1330C>T	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885835	0.51908	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.37235	1.21;1.21	5.52	5.52	0.82312	.	0.051486	0.85682	D	0.000000	T	0.33030	0.0849	L	0.43152	1.355	0.80722	D	1	P;B	0.36354	0.549;0.09	B;B	0.33295	0.161;0.1	T	0.05194	-1.0900	10	0.25106	T	0.35	-7.4707	19.4321	0.94775	0.0:0.0:1.0:0.0	.	367;444	B4DZP4;O43237	.;DC1L2_HUMAN	S	444;367	ENSP00000258198:P444S;ENSP00000394289:P367S	ENSP00000258198:P444S	P	-	1	0	DYNC1LI2	65317280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.725000	0.74752	2.590000	0.87494	0.591000	0.81541	CCT		PASS	0.478	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141		54	93	54	93	---	---	---	---
CA7	766	broad.mit.edu	37	16	66881131	66881131	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:66881131G>A	ENST00000338437.2	+	2	347		c.e2+1		RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Splice_Site	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII						bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.?(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	GACCGAACCGGTAAGTGGCCC	0.562																																						uc002eqi.2																			1	Unknown(1)		lung(1)		0						c.e2+1		carbonic anhydrase VII isoform 1							61.0	55.0	57.0					16																	66881131		2200	4300	6500	SO:0001630	splice_region_variant	766				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr16:66881131G>A		CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.238+1G>A	16.37:g.66881131G>A						uc002eqh.2_Intron|CA7_uc002eqj.2_Splice_Site_p.V24_splice	p.V80_splice	NM_005182	NP_005173	P43166	CAH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	347	+		Ovarian(137;0.0563)						Q541F0|Q86YU0	Splice_Site	SNP	ENST00000338437.2	37	c.238_splice	CCDS10821.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752898	0.89753	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5709	0.87934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA7	65438632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.340000	0.97038	2.478000	0.83669	0.655000	0.94253	.		PASS	0.562	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1		Intron	7	14	7	14	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180995	67180995	+	Silent	SNP	C	C	A	rs533596746		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:67180995C>A	ENST00000219139.3	+	16	1418	c.1230C>A	c.(1228-1230)ccC>ccA	p.P410P	C16orf70_ENST00000569600.1_Silent_p.P410P	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	410								p.P410P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGGCCCCCCCAGGCCTGGTA	0.602																																						uc002erc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1228-1230)CCC>CCA		lin-10							171.0	149.0	156.0					16																	67180995		2198	4300	6498	SO:0001819	synonymous_variant	80262							g.chr16:67180995C>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230C>A	16.37:g.67180995C>A						C16orf70_uc002erd.2_Silent_p.P410P|uc002erg.1_5'Flank	p.P410P	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	17	1314	+		Ovarian(137;0.192)	410					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.1230C>A	CCDS10828.1																																																																																				PASS	0.602	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		5	66	5	66	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67327714	67327714	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:67327714C>T	ENST00000304372.5	-	12	2006	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	651					protein homooligomerization (GO:0051260)			p.E651K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCTGGAATTCCCACTGTTTG	0.582																																						uc002esu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1951-1953)GAA>AAA		potassium channel tetramerisation domain							92.0	106.0	101.0					16																	67327714		2077	4223	6300	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327714C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1951G>A	16.37:g.67327714C>T	ENSP00000305702:p.Glu651Lys					KCTD19_uc002est.2_Missense_Mutation_p.E423K|KCTD19_uc010vjj.1_Missense_Mutation_p.E394K	p.E651K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2002	-		Ovarian(137;0.192)	651					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1951G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201024	0.58234	.	.	ENSG00000168676	ENST00000304372	T	0.61859	0.07	5.79	4.83	0.62350	.	0.435202	0.21792	N	0.069054	T	0.39036	0.1063	N	0.24115	0.695	0.35179	D	0.772254	B	0.26483	0.15	B	0.19946	0.027	T	0.46373	-0.9196	10	0.35671	T	0.21	-5.5325	8.0076	0.30334	0.0:0.8465:0.0:0.1535	.	651	Q17RG1	KCD19_HUMAN	K	651	ENSP00000305702:E651K	ENSP00000305702:E651K	E	-	1	0	KCTD19	65885215	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.070000	0.41491	2.727000	0.93392	0.563000	0.77884	GAA		PASS	0.582	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		21	33	21	33	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67662408	67662408	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:67662408C>T	ENST00000264010.4	+	9	2098	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S	CTCF_ENST00000401394.1_Missense_Mutation_p.P224S	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	552					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|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)|zinc ion binding (GO:0008270)	p.P552S(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACTTCGTCCCTGCGGCTTT	0.498																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1654-1656)CCT>TCT		CCCTC-binding factor							225.0	198.0	207.0					16																	67662408		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67662408C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1654C>T	16.37:g.67662408C>T	ENSP00000264010:p.Pro552Ser					CTCF_uc010cek.2_Missense_Mutation_p.P224S|CTCF_uc002etm.1_Missense_Mutation_p.P41S	p.P552S	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	1944	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	552					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1654C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258774	0.95368	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.09073	3.02;3.04	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.27559	0.0677	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.00110	-1.2047	10	0.66056	D	0.02	-1.8698	19.488	0.95037	0.0:1.0:0.0:0.0	.	224;552	B5MC38;P49711	.;CTCF_HUMAN	S	552;224	ENSP00000264010:P552S;ENSP00000384707:P224S	ENSP00000264010:P552S	P	+	1	0	CTCF	66219909	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.794000	0.85869	2.702000	0.92279	0.462000	0.41574	CCT		PASS	0.498	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		39	69	39	69	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67768871	67768871	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:67768871G>A	ENST00000317506.3	-	6	781	c.666C>T	c.(664-666)ttC>ttT	p.F222F	RANBP10_ENST00000448631.2_Silent_p.F166F|RANBP10_ENST00000411657.2_Silent_p.F105F|RANBP10_ENST00000602677.1_Silent_p.F222F|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602887.1_5'Flank|RANBP10_ENST00000425512.2_Silent_p.F90F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	222	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.F222F(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGTCAAACAGGAAGGGCTGCT	0.607																																						uc002eud.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(664-666)TTC>TTT		RAN binding protein 10							72.0	61.0	64.0					16																	67768871		2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67768871G>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.666C>T	16.37:g.67768871G>A						RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.F166F|RANBP10_uc010vjv.1_Silent_p.F105F|RANBP10_uc010vjx.1_Silent_p.F222F|RANBP10_uc010vjy.1_Silent_p.F90F	p.F222F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	6	782	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	222			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.666C>T	CCDS32469.1																																																																																				PASS	0.607	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		8	15	8	15	---	---	---	---
PSKH1	5681	broad.mit.edu	37	16	67943456	67943456	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:67943456C>T	ENST00000291041.5	+	2	974	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V268V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCCCAGAAGTCCTGGTCCGCA	0.567																																						uc002euv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(802-804)GTC>GTT		protein serine kinase H1							81.0	68.0	72.0					16																	67943456		2198	4300	6498	SO:0001819	synonymous_variant	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943456C>T	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.804C>T	16.37:g.67943456C>T						PSKH1_uc010cet.2_Silent_p.V268V	p.V268V	NM_006742	NP_006733	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	974	+		Ovarian(137;0.192)	268			Protein kinase.		Q9NY19	Silent	SNP	ENST00000291041.5	37	c.804C>T	CCDS10851.1																																																																																				PASS	0.567	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		9	27	9	27	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68156241	68156241	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:68156241C>T	ENST00000346183.3	+	2	479	c.455C>T	c.(454-456)cCt>cTt	p.P152L	NFATC3_ENST00000575270.1_Missense_Mutation_p.P152L|NFATC3_ENST00000329524.4_Missense_Mutation_p.P152L|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000349223.5_Missense_Mutation_p.P152L|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	152					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P152L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCTATCTTCCTCTTGAGCCA	0.443																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(454-456)CCT>CTT		nuclear factor of activated T-cells,							99.0	95.0	96.0					16																	68156241		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156241C>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.455C>T	16.37:g.68156241C>T	ENSP00000300659:p.Pro152Leu					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.P152L|NFATC3_uc002evm.1_Missense_Mutation_p.P152L|NFATC3_uc002evn.1_Missense_Mutation_p.P152L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.P152L	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	665	+		Ovarian(137;0.0563)	152					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.455C>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013821	0.54468	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12569	2.67;2.68;2.68	5.3	5.3	0.74995	.	0.050278	0.85682	D	0.000000	T	0.27900	0.0687	M	0.79123	2.44	0.80722	D	1	P;P;P;P	0.50369	0.679;0.934;0.679;0.679	B;P;B;B	0.49999	0.202;0.628;0.265;0.202	T	0.01245	-1.1407	9	.	.	.	-14.7913	14.1869	0.65612	0.1496:0.8504:0.0:0.0	.	152;152;152;152	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	L	152	ENSP00000264008:P152L;ENSP00000300659:P152L;ENSP00000331324:P152L	.	P	+	2	0	NFATC3	66713742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.578000	0.67450	2.629000	0.89072	0.467000	0.42956	CCT		PASS	0.443	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		19	51	19	51	---	---	---	---
SLC7A6	9057	broad.mit.edu	37	16	68308694	68308694	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:68308694C>T	ENST00000566454.1	+	4	334	c.65C>T	c.(64-66)tCc>tTc	p.S22F	SLC7A6_ENST00000219343.6_Missense_Mutation_p.S22F	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.S22F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		ACCAGCCAGTCCCAGGTGGAA	0.577																																						uc002evt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(64-66)TCC>TTC		solute carrier family 7 (cationic amino acid							100.0	89.0	93.0					16																	68308694		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68308694C>T	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.65C>T	16.37:g.68308694C>T	ENSP00000455064:p.Ser22Phe					SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S22F|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	p.S22F	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	374	+		Ovarian(137;0.0563)	22			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000566454.1	37	c.65C>T	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130332	0.21041	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.91686	-2.56;-2.89	5.07	2.63	0.31362	.	1.433200	0.03807	N	0.265395	D	0.83617	0.5293	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73395	-0.3996	10	0.59425	D	0.04	.	5.6912	0.17831	0.1983:0.6671:0.0:0.1346	.	22	Q92536	YLAT2_HUMAN	F	22	ENSP00000219343:S22F;ENSP00000368448:S22F	ENSP00000219343:S22F	S	+	2	0	SLC7A6	66866195	0.001000	0.12720	0.115000	0.21578	0.039000	0.13416	0.468000	0.22051	1.199000	0.43173	0.555000	0.69702	TCC		PASS	0.577	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		10	23	10	23	---	---	---	---
SLC7A6OS	84138	broad.mit.edu	37	16	68338066	68338066	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:68338066C>T	ENST00000263997.6	-	3	559	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	181					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D181N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CCTGGTCCATCCTCAGACACA	0.473																																						uc002evw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)GAT>AAT		solute carrier family 7, member 6 opposite							201.0	188.0	192.0					16																	68338066		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68338066C>T		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.541G>A	16.37:g.68338066C>T	ENSP00000263997:p.Asp181Asn						p.D181N	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	3	560	-		Ovarian(137;0.192)	181					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.541G>A	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335331	0.81801	.	.	ENSG00000103061	ENST00000263997	T	0.21031	2.03	5.26	2.27	0.28462	.	0.511465	0.23102	N	0.051913	T	0.16471	0.0396	L	0.46157	1.445	0.31667	N	0.644821	B	0.15141	0.012	B	0.18561	0.022	T	0.09662	-1.0664	10	0.36615	T	0.2	-30.2799	6.2017	0.20579	0.1507:0.6883:0.0:0.1611	.	181	Q96CW6	S7A6O_HUMAN	N	181	ENSP00000263997:D181N	ENSP00000263997:D181N	D	-	1	0	SLC7A6OS	66895567	0.000000	0.05858	0.879000	0.34478	0.773000	0.43773	0.469000	0.22067	0.379000	0.24794	0.555000	0.69702	GAT		PASS	0.473	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		43	74	43	74	---	---	---	---
CIRH1A	84916	broad.mit.edu	37	16	69202755	69202755	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:69202755G>A	ENST00000314423.7	+	17	2153	c.1976G>A	c.(1975-1977)aGa>aAa	p.R659K	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R544K			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	659					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.R659K(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TTGGATGAAAGAACACTCGTG	0.448																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1975-1977)AGA>AAA		cirhin							132.0	118.0	123.0					16																	69202755		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69202755G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1976G>A	16.37:g.69202755G>A	ENSP00000327179:p.Arg659Lys					CIRH1A_uc002ewt.3_Missense_Mutation_p.R576K|CIRH1A_uc010cfi.2_Missense_Mutation_p.R461K	p.R659K	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	17	2072	+			659					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1976G>A	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574336	0.13623	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.37058	1.75;1.22	5.8	3.85	0.44370	.	0.578330	0.19331	N	0.116894	T	0.28034	0.0691	L	0.40543	1.245	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	10	0.41790	T	0.15	.	8.9719	0.35912	0.2257:0.0:0.7743:0.0	.	659	Q969X6	CIR1A_HUMAN	K	659;544	ENSP00000327179:R659K;ENSP00000339164:R544K	ENSP00000327179:R659K	R	+	2	0	CIRH1A	67760256	0.718000	0.27976	0.983000	0.44433	0.966000	0.64601	0.924000	0.28777	1.459000	0.47892	0.563000	0.77884	AGA		PASS	0.448	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		21	39	21	39	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70172834	70172834	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:70172834C>T	ENST00000288050.4	+	11	2180	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	PDPR_ENST00000568530.1_Missense_Mutation_p.P408L|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.P308L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	408					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.P408L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CATGGTTATCCCTCAGAAAAC	0.483																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1222-1224)CCC>CTC		pyruvate dehydrogenase phosphatase regulatory							51.0	53.0	53.0					16																	70172834		1856	4109	5965	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70172834C>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1223C>T	16.37:g.70172834C>T	ENSP00000288050:p.Pro408Leu					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.P308L|PDPR_uc002eyg.1_Missense_Mutation_p.P136L	p.P408L	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	11	2180	+			408					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1223C>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930800	0.73327	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.85088	-1.94;-1.94	4.42	4.42	0.53409	.	0.114858	0.64402	D	0.000011	D	0.87067	0.6085	M	0.83223	2.63	0.80722	D	1	B;B	0.26775	0.016;0.159	B;B	0.30105	0.009;0.111	D	0.87538	0.2457	10	0.72032	D	0.01	.	16.0044	0.80349	0.0:1.0:0.0:0.0	.	136;408	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	L	408;308;136	ENSP00000288050:P408L;ENSP00000381190:P308L	ENSP00000205055:P136L	P	+	2	0	PDPR	68730335	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.613000	0.82986	1.985000	0.57927	0.455000	0.32223	CCC		PASS	0.483	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		8	50	8	50	---	---	---	---
DDX19A	55308	broad.mit.edu	37	16	70400755	70400755	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:70400755C>T	ENST00000302243.7	+	9	1174	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	DDX19A_ENST00000443119.2_Silent_p.I247I|DDX19A_ENST00000417604.2_Silent_p.I306I	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	337	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.I337I(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AAGCCATGATCTTCTGCCATG	0.592																																						uc002eyv.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1009-1011)ATC>ATT		DDX19-like protein							158.0	131.0	140.0					16																	70400755		2198	4300	6498	SO:0001819	synonymous_variant	55308				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:70400755C>T	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1011C>T	16.37:g.70400755C>T						DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Silent_p.I338I|DDX19A_uc010cfq.1_Silent_p.I92I|DDX19A_uc010cfr.2_Silent_p.I187I|DDX19A_uc010cfs.2_Silent_p.I160I|DDX19A_uc010vlz.1_Silent_p.I306I|DDX19A_uc010vma.1_Silent_p.I247I	p.I337I	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN			9	1082	+		Ovarian(137;0.221)	337			Helicase C-terminal.		B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.1011C>T	CCDS10889.1																																																																																				PASS	0.592	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		12	49	12	49	---	---	---	---
COG4	25839	broad.mit.edu	37	16	70531126	70531126	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:70531126G>A	ENST00000323786.5	-	11	1500	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	489					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.F493F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AACTGTACCTGAAGTCAGACT	0.502																																						uc002ezc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1477-1479)TTC>TTT		component of oligomeric golgi complex 4							92.0	84.0	87.0					16																	70531126		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70531126G>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1479C>T	16.37:g.70531126G>A						COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.F493F|COG4_uc002eze.2_Silent_p.F187F	p.F493F	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			11	1490	-		Ovarian(137;0.0694)	489					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.1479C>T	CCDS10892.2																																																																																				PASS	0.502	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			14	48	14	48	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70891610	70891611	+	Missense_Mutation	DNP	AT	AT	TC	rs372726695		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:70891610_70891611AT>TC	ENST00000393567.2	-	72	12442_12443	c.12292_12293AT>GA	c.(12292-12294)ATt>GAt	p.I4098D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4098					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.I4049V(1)|p.I4097D(1)|p.I4097N(1)|p.I4049D(1)|p.I4097V(1)|p.I4049N(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)				AGCCTTACCAATGAGGAGAGAG	0.495																																						uc002ezr.2																			6	Substitution - Missense(6)		lung(6)	ovary(1)|skin(1)	2						c.(12289-12291)ATT>AAT|c.(12289-12291)ATT>GTT		hydrocephalus inducing isoform a																																				SO:0001583	missense	54768							g.chr16:70891610A>T|g.chr16:70891611T>C	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.12292_12293delinsTC	16.37:g.70891610_70891611delinsTC	ENSP00000377197:p.Ile4098Asp					HYDIN_uc010cfy.2_RNA	p.I4097N|p.I4097V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			72	12418|12417	-		Ovarian(137;0.0654)	4098					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.12290T>A|c.12289A>G	CCDS59269.1																																																																																				PASS	0.495	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	26|27	5	26	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70917872	70917872	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:70917872G>A	ENST00000393567.2	-	59	10080	c.9930C>T	c.(9928-9930)gtC>gtT	p.V3310V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3310					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.V3309V(1)|p.V3261V(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)				CGGCAGGGTGGACTGCAGGGT	0.527																																						uc002ezr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(9925-9927)GTC>GTT		hydrocephalus inducing isoform a							51.0	55.0	54.0					16																	70917872		1958	4158	6116	SO:0001819	synonymous_variant	54768							g.chr16:70917872G>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.9930C>T	16.37:g.70917872G>A							p.V3309V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			59	10055	-		Ovarian(137;0.0654)	3310					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9927C>T	CCDS59269.1																																																																																				PASS	0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			11	17	11	17	---	---	---	---
CMTR2	55783	broad.mit.edu	37	16	71318220	71318220	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:71318220G>A	ENST00000338099.5	-	3	1940	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	CMTR2_ENST00000434935.2_Missense_Mutation_p.S535F			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	535					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.S535F(1)									CCTAAACTTGGAATCCAAATT	0.353																																						uc010cga.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1603-1605)TCC>TTC		FtsJ methyltransferase domain containing 1							43.0	45.0	44.0					16																	71318220		2198	4298	6496	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318220G>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1604C>T	16.37:g.71318220G>A	ENSP00000337512:p.Ser535Phe					FTSJD1_uc002ezy.3_Missense_Mutation_p.S535F|FTSJD1_uc002ezz.3_Missense_Mutation_p.S535F	p.S535F	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	2010	-			535					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.1604C>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497827	0.12762	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15139	2.45;2.45	5.75	3.81	0.43845	.	0.755257	0.12409	N	0.471442	T	0.12092	0.0294	N	0.24115	0.695	0.24922	N	0.991979	B	0.02656	0.0	B	0.04013	0.001	T	0.22556	-1.0213	10	0.46703	T	0.11	-11.1614	8.6005	0.33742	0.1743:0.0:0.8257:0.0	.	535	Q8IYT2	FTSJ1_HUMAN	F	535	ENSP00000337512:S535F;ENSP00000411148:S535F	ENSP00000337512:S535F	S	-	2	0	FTSJD1	69875721	1.000000	0.71417	0.992000	0.48379	0.799000	0.45148	1.546000	0.36179	0.796000	0.33947	0.561000	0.74099	TCC		PASS	0.353	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		18	23	18	23	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71483440	71483440	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:71483440G>A	ENST00000393539.2	-	6	1301	c.488C>T	c.(487-489)tCt>tTt	p.S163F	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.S163F|ZNF23_ENST00000357254.4_Missense_Mutation_p.S163F|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.S105F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.S105F	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	163					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.S163F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCTTTCCTCAGAATTAATTAT	0.408																																						uc002faf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(487-489)TCT>TTT		zinc finger protein 23							74.0	79.0	77.0					16																	71483440		2197	4300	6497	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483440G>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.488C>T	16.37:g.71483440G>A	ENSP00000377171:p.Ser163Phe					ZNF23_uc002fad.2_Missense_Mutation_p.S105F|ZNF23_uc002fae.2_Missense_Mutation_p.S105F|ZNF23_uc010vmf.1_Missense_Mutation_p.S105F|ZNF23_uc002fag.2_Missense_Mutation_p.S105F|ZNF23_uc002fah.2_Missense_Mutation_p.S163F|ZNF23_uc002fai.2_Missense_Mutation_p.S202F	p.S163F	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1302	-		Ovarian(137;0.00768)	163					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.488C>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823864	0.32237	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	3.49	2.52	0.30459	.	1.243490	0.06020	N	0.651145	T	0.22820	0.0551	M	0.69358	2.11	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.0	T	0.30650	-0.9971	10	0.72032	D	0.01	-0.0383	9.3585	0.38182	0.1105:0.0:0.8895:0.0	.	163;163	B3KR55;P17027	.;ZNF23_HUMAN	F	163;163;163;105;105	ENSP00000377171:S163F;ENSP00000349796:S163F;ENSP00000395712:S163F;ENSP00000387673:S105F	ENSP00000349796:S163F	S	-	2	0	ZNF23	70040941	0.107000	0.21998	0.009000	0.14445	0.911000	0.54048	1.535000	0.36061	1.043000	0.40175	0.561000	0.74099	TCT		PASS	0.408	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		10	48	10	48	---	---	---	---
CHST4	10164	broad.mit.edu	37	16	71570631	71570631	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:71570631G>A	ENST00000338482.5	+	3	394	c.51G>A	c.(49-51)atG>atA	p.M17I	CHST4_ENST00000539698.3_Missense_Mutation_p.M17I|CHST4_ENST00000572450.1_Missense_Mutation_p.M17I|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	17					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.M17I(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TTTCCCAGATGGCCATCTTGG	0.493																																						uc002fan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)ATG>ATA		carbohydrate (N-acetylglucosamine 6-O)							107.0	106.0	106.0					16																	71570631		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570631G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.51G>A	16.37:g.71570631G>A	ENSP00000341206:p.Met17Ile					CHST4_uc002fao.2_Missense_Mutation_p.M17I	p.M17I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	232	+			17			Helical; Signal-anchor for type II membrane protein; (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.51G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	5.615	0.298262	0.10622	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95788	-3.81;-3.81	5.19	-0.575	0.11734	.	1.198340	0.05651	N	0.585213	D	0.85673	0.5751	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75869	-0.3165	10	0.17369	T	0.5	-4.525	1.0793	0.01639	0.1743:0.2602:0.3263:0.2392	.	17	Q8NCG5	CHST4_HUMAN	I	17	ENSP00000341206:M17I;ENSP00000441204:M17I	ENSP00000341206:M17I	M	+	3	0	CHST4	70128132	0.000000	0.05858	0.057000	0.19452	0.007000	0.05969	-0.287000	0.08388	0.284000	0.22305	-0.253000	0.11424	ATG		PASS	0.493	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		15	27	15	27	---	---	---	---
TAT	6898	broad.mit.edu	37	16	71602689	71602689	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:71602689G>A	ENST00000355962.4	-	11	1282	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	383					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.F383F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CAAATTCTGGGAAATGTTCCA	0.512																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1147-1149)TTC>TTT		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						78.0	66.0	70.0					16																	71602689		2198	4300	6498	SO:0001819	synonymous_variant	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71602689G>A		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1149C>T	16.37:g.71602689G>A							p.F383F	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	11	1248	-		Ovarian(137;0.125)	383					B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	c.1149C>T	CCDS10903.1																																																																																				PASS	0.512	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			5	16	5	16	---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71668666	71668666	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:71668666G>A	ENST00000268485.3	+	3	1210	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	389					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.R389K(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CGAAAAGTTAGGAAGCTAAAA	0.498																																						uc002fat.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1165-1167)AGG>AAG		MARVEL domain containing 3 isoform 2							56.0	60.0	58.0					16																	71668666		2198	4299	6497	SO:0001583	missense	91862					integral to membrane		g.chr16:71668666G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.1166G>A	16.37:g.71668666G>A	ENSP00000268485:p.Arg389Lys					MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	p.R389K	NM_052858	NP_443090	Q96A59	MALD3_HUMAN			3	1229	+		Ovarian(137;0.125)	389			Cytoplasmic (Potential).		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.1166G>A	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	8.187	0.795151	0.16327	.	.	ENSG00000140832	ENST00000268485	T	0.46063	0.88	5.79	1.69	0.24217	.	.	.	.	.	T	0.20941	0.0504	N	0.20766	0.605	0.80722	D	1	B	0.31318	0.319	B	0.22753	0.041	T	0.06698	-1.0812	9	0.11794	T	0.64	.	8.9515	0.35792	0.3961:0.0:0.6039:0.0	.	389	Q96A59	MALD3_HUMAN	K	389	ENSP00000268485:R389K	ENSP00000268485:R389K	R	+	2	0	MARVELD3	70226167	0.192000	0.23301	0.964000	0.40570	0.485000	0.33311	0.819000	0.27308	0.087000	0.17167	-0.140000	0.14226	AGG		PASS	0.498	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		11	43	11	43	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72188302	72188302	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:72188302G>A	ENST00000237353.10	-	4	483	c.222C>T	c.(220-222)tcC>tcT	p.S74S	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Silent_p.S74S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	74						cytoplasm (GO:0005737)		p.S74S(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACTGTTTACTGGACCCAAATT	0.433																																						uc002fcc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(220-222)TCC>TCT		polyamine modulated factor 1 binding protein 1							163.0	142.0	149.0					16																	72188302		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72188302G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.222C>T	16.37:g.72188302G>A						PMFBP1_uc002fcd.2_Silent_p.S74S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	p.S74S	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	394	-		Ovarian(137;0.179)	74					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.222C>T	CCDS32483.1																																																																																				PASS	0.433	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		19	33	19	33	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822391	72822391	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:72822391C>T	ENST00000268489.5	-	10	10456	c.9784G>A	c.(9784-9786)Gga>Aga	p.G3262R	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2348R|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3262					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3262R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGCCTCTCCTTTCTCCTTC	0.597																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(9784-9786)GGA>AGA		zinc finger homeobox 3 isoform A							94.0	106.0	102.0					16																	72822391		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822391C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9784G>A	16.37:g.72822391C>T	ENSP00000268489:p.Gly3262Arg					ZFHX3_uc002fcl.2_Missense_Mutation_p.G2348R	p.G3262R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	10457	-		Ovarian(137;0.13)	3262					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9784G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810140	0.32053	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72615	-0.67;-0.65	5.55	5.55	0.83447	.	0.000000	0.48767	D	0.000161	T	0.48909	0.1526	N	0.08118	0	0.34549	D	0.711099	P	0.36616	0.561	B	0.28305	0.088	T	0.57277	-0.7839	10	0.14252	T	0.57	.	19.5071	0.95124	0.0:1.0:0.0:0.0	.	3262	Q15911	ZFHX3_HUMAN	R	3262;2348	ENSP00000268489:G3262R;ENSP00000438926:G2348R	ENSP00000268489:G3262R	G	-	1	0	ZFHX3	71379892	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	2.617000	0.88574	0.557000	0.71058	GGA		PASS	0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		25	32	25	32	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829629	72829629	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:72829629C>T	ENST00000268489.5	-	9	7624	c.6952G>A	c.(6952-6954)Gat>Aat	p.D2318N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1404N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2318					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D2318N(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGTATCTATCATTTGTAAGC	0.458																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(6952-6954)GAT>AAT		zinc finger homeobox 3 isoform A							134.0	130.0	131.0					16																	72829629		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829629C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6952G>A	16.37:g.72829629C>T	ENSP00000268489:p.Asp2318Asn					ZFHX3_uc002fcl.2_Missense_Mutation_p.D1404N	p.D2318N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	7625	-		Ovarian(137;0.13)	2318					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6952G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131132	0.56828	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76316	-1.01;-0.98	5.65	5.65	0.86999	.	0.000000	0.52532	D	0.000080	D	0.83403	0.5247	L	0.46157	1.445	0.80722	D	1	D	0.61080	0.989	P	0.57846	0.828	D	0.84438	0.0581	10	0.72032	D	0.01	.	19.722	0.96147	0.0:1.0:0.0:0.0	.	2318	Q15911	ZFHX3_HUMAN	N	2318;1404	ENSP00000268489:D2318N;ENSP00000438926:D1404N	ENSP00000268489:D2318N	D	-	1	0	ZFHX3	71387130	1.000000	0.71417	0.114000	0.21550	0.539000	0.34962	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	GAT		PASS	0.458	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		37	64	37	64	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991362	72991362	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:72991362G>A	ENST00000268489.5	-	2	3355	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	895					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P895S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCCCGGCGGGATCCAGCTGG	0.542																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2683-2685)CCC>TCC		zinc finger homeobox 3 isoform A							93.0	91.0	92.0					16																	72991362		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991362G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2683C>T	16.37:g.72991362G>A	ENSP00000268489:p.Pro895Ser					ZFHX3_uc002fcl.2_Intron	p.P895S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3356	-		Ovarian(137;0.13)	895					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.2683C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414558	0.42817	.	.	ENSG00000140836	ENST00000268489	T	0.51817	0.69	5.8	4.84	0.62591	.	0.000000	0.49916	D	0.000132	T	0.46386	0.1390	L	0.48642	1.525	0.80722	D	1	P	0.41710	0.76	B	0.43052	0.406	T	0.37430	-0.9706	10	0.33141	T	0.24	.	15.35	0.74376	0.0:0.2637:0.7362:0.0	.	895	Q15911	ZFHX3_HUMAN	S	895	ENSP00000268489:P895S	ENSP00000268489:P895S	P	-	1	0	ZFHX3	71548863	1.000000	0.71417	0.624000	0.29186	0.978000	0.69477	5.620000	0.67736	1.440000	0.47531	0.655000	0.94253	CCC		PASS	0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	20	15	20	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76389314	76389314	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:76389314G>A	ENST00000476707.1	+	2	444	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G74E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G98E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G98E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	99	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.G74E(2)|p.G98E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTCAAGGGGGATATGGTAGC	0.522																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(295-297)GGA>GAA		cell recognition protein CASPR4 isoform 1							93.0	82.0	85.0					16																	76389314		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76389314G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.305G>A	16.37:g.76389314G>A	ENSP00000417628:p.Gly102Glu					CNTNAP4_uc002fev.1_Missense_Mutation_p.G11E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G74E|CNTNAP4_uc002fex.1_Missense_Mutation_p.G102E|CNTNAP4_uc002few.2_Missense_Mutation_p.G74E	p.G99E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			5	681	+			99			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.296G>A		.	.	.	.	.	.	.	.	.	.	G	18.55	3.648268	0.67358	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.39834	N	0.001258	D	0.98207	0.9407	.	.	.	0.39638	D	0.970286	D;D;P;D	0.76494	0.985;0.996;0.898;0.999	D;D;P;D	0.83275	0.916;0.943;0.643;0.996	D	0.97844	1.0270	9	0.46703	T	0.11	.	9.1563	0.36994	0.0975:0.0:0.9025:0.0	.	74;102;74;99	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	98;98;74;102	ENSP00000306893:G98E;ENSP00000439733:G98E;ENSP00000418741:G74E;ENSP00000417628:G102E	ENSP00000306893:G98E	G	+	2	0	CNTNAP4	74946815	1.000000	0.71417	0.434000	0.26772	0.925000	0.55904	6.469000	0.73555	2.655000	0.90218	0.591000	0.81541	GGA		PASS	0.522	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		9	33	9	33	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76481942	76481942	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:76481942C>T	ENST00000476707.1	+	4	720	c.581C>T	c.(580-582)tCc>tTc	p.S194F	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S166F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S190F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S190F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	191					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S166F(2)|p.S190F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAAAAAGTTCCCTTCTCTAC	0.343																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(571-573)TCC>TTC		cell recognition protein CASPR4 isoform 1							73.0	74.0	74.0					16																	76481942		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76481942C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.581C>T	16.37:g.76481942C>T	ENSP00000417628:p.Ser194Phe					CNTNAP4_uc002fev.1_Missense_Mutation_p.S103F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S166F|CNTNAP4_uc002fex.1_Missense_Mutation_p.S194F|CNTNAP4_uc002few.2_Missense_Mutation_p.S166F	p.S191F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			7	957	+			191			Extracellular (Potential).		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.572C>T		.	.	.	.	.	.	.	.	.	.	C	9.812	1.183423	0.21870	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.28	0.924	0.19418	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.380300	0.19336	N	0.116796	T	0.59088	0.2168	.	.	.	0.32640	N	0.520783	B;B;B;B	0.13145	0.007;0.007;0.007;0.001	B;B;B;B	0.19946	0.027;0.019;0.019;0.005	T	0.50923	-0.8770	9	0.09590	T	0.72	.	5.7862	0.18334	0.0:0.4427:0.2745:0.2828	.	166;194;166;191	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	F	190;190;166;194	ENSP00000306893:S190F;ENSP00000439733:S190F;ENSP00000418741:S166F;ENSP00000417628:S194F	ENSP00000306893:S190F	S	+	2	0	CNTNAP4	75039443	0.001000	0.12720	0.997000	0.53966	0.994000	0.84299	-0.053000	0.11846	0.383000	0.24910	-0.222000	0.12452	TCC		PASS	0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		17	53	17	53	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76523671	76523671	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:76523671C>T	ENST00000476707.1	+	12	2119	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CNTNAP4_ENST00000478060.1_Silent_p.F584F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.F656F|CNTNAP4_ENST00000377504.4_Silent_p.F608F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	657	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.F656F(1)|p.F584F(1)|p.F632F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTGGGTTTTTCGAGTATGTGG	0.458																																						uc002feu.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1969-1971)TTC>TTT		cell recognition protein CASPR4 isoform 1							47.0	38.0	41.0					16																	76523671		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76523671C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1980C>T	16.37:g.76523671C>T						CNTNAP4_uc002fev.1_Silent_p.F521F|CNTNAP4_uc010chb.1_Silent_p.F584F|CNTNAP4_uc002fex.1_Silent_p.F660F|CNTNAP4_uc002few.2_Silent_p.F632F	p.F657F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			15	2356	+			657			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.1971C>T																																																																																					PASS	0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		9	14	9	14	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095315	81095315	+	Silent	SNP	G	G	T	rs200487806		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81095315G>T	ENST00000299578.5	-	4	874	c.639C>A	c.(637-639)ccC>ccA	p.P213P	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Silent_p.P213P|C16orf46_ENST00000444657.3_5'UTR	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	213						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P213P(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AAGCCTTCAGGGGAGGCAGAA	0.542																																						uc002fgc.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(637-639)CCC>CCA		chromosome 16 open reading frame 46 isoform 2							92.0	99.0	97.0					16																	81095315		2202	4300	6502	SO:0001819	synonymous_variant	123775							g.chr16:81095315G>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.639C>A	16.37:g.81095315G>T						C16orf46_uc010chf.2_Silent_p.P213P|C16orf46_uc010vno.1_5'UTR	p.P213P	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	898	-			213					Q96MA7	Silent	SNP	ENST00000299578.5	37	c.639C>A	CCDS10932.1																																																																																				PASS	0.542	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		5	70	5	70	---	---	---	---
GCSH	2653	broad.mit.edu	37	16	81124258	81124258	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81124258C>A	ENST00000315467.3	-	2	300	c.176G>T	c.(175-177)tGg>tTg	p.W59L	GCSH_ENST00000566566.1_Missense_Mutation_p.W59L	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	59					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)	p.W59L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TGTTGTTACCCATTCGTGTTT	0.368																																						uc002fgd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TGG>TTG		glycine cleavage system protein H (aminomethyl	Glycine(DB00145)						189.0	165.0	173.0					16																	81124258		2200	4300	6500	SO:0001583	missense	2653					glycine cleavage complex|mitochondrion	aminomethyltransferase activity	g.chr16:81124258C>A	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"""lipoic acid-containing protein"""	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.176G>T	16.37:g.81124258C>A	ENSP00000319531:p.Trp59Leu					GCSH_uc002fge.2_RNA	p.W59L	NM_004483	NP_004474	P23434	GCSH_HUMAN			2	273	-			59					Q9H1E9	Missense_Mutation	SNP	ENST00000315467.3	37	c.176G>T	CCDS10933.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362690	0.95877	.	.	ENSG00000140905	ENST00000315467	T	0.59638	0.25	5.63	5.63	0.86233	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92141	0.5720	10	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	59	P23434	GCSH_HUMAN	L	59	ENSP00000319531:W59L	ENSP00000319531:W59L	W	-	2	0	GCSH	79681759	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.617000	0.83032	2.826000	0.97356	0.655000	0.94253	TGG		PASS	0.368	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269049.1	NM_004483		4	27	4	27	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81241185	81241185	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81241185G>A	ENST00000525539.1	-	0	815				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S272S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCCACGTCAGGGAGATGGTGA	0.468																																						uc002fgh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(814-816)TCC>TCT		polycystin 1-like 2 isoform a							139.0	141.0	140.0					16																	81241185		1983	4163	6146			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81241185G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81241185G>A						PKD1L2_uc002fgj.2_Silent_p.S272S	p.S272S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			5	816	-			272			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.816C>T																																																																																					PASS	0.468	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			27	97	27	97	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81249906	81249906	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81249906G>A	ENST00000525539.1	-	0	406				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S136F(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACTCAGAGGAAGGGCCTCT	0.647																																						uc002fgh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(406-408)TCC>TTC		polycystin 1-like 2 isoform a							66.0	83.0	77.0					16																	81249906		2096	4214	6310			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81249906G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81249906G>A						PKD1L2_uc002fgj.2_Missense_Mutation_p.S136F	p.S136F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			2	407	-			136			Extracellular (Potential).|C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.407C>T		.	.	.	.	.	.	.	.	.	.	G	15.93	2.978792	0.53720	.	.	ENSG00000166473	ENST00000337114	T	0.20332	2.08	5.09	-1.36	0.09085	C-type lectin fold (1);C-type lectin (3);	1.149460	0.06349	N	0.709534	T	0.24084	0.0583	.	.	.	0.09310	N	1	P;P	0.49696	0.911;0.927	P;P	0.52109	0.66;0.69	T	0.24693	-1.0153	9	0.59425	D	0.04	-4.069	1.2303	0.01942	0.1551:0.2437:0.2726:0.3286	.	136;136	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	F	136	ENSP00000337397:S136F	ENSP00000337397:S136F	S	-	2	0	PKD1L2	79807407	0.001000	0.12720	0.011000	0.14972	0.012000	0.07955	0.889000	0.28282	0.151000	0.19162	-0.142000	0.14014	TCC		PASS	0.647	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			12	31	12	31	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81253771	81253771	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81253771C>T	ENST00000525539.1	-	0	204				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.E69K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGGTGCCTTCGTCCTGAATG	0.562																																						uc002fgh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(205-207)GAA>AAA		polycystin 1-like 2 isoform a							107.0	105.0	106.0					16																	81253771		2044	4204	6248			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81253771C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81253771C>T						PKD1L2_uc002fgj.2_Missense_Mutation_p.E69K	p.E69K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			1	205	-			69			Extracellular (Potential).|C-type lectin.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.205G>A		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420503	0.42918	.	.	ENSG00000166473	ENST00000337114	T	0.18960	2.18	4.17	3.17	0.36434	C-type lectin fold (1);C-type lectin (3);	0.358241	0.24901	N	0.034697	T	0.33235	0.0856	.	.	.	0.20703	N	0.999863	D;P	0.76494	0.999;0.941	P;B	0.56648	0.803;0.239	T	0.07065	-1.0792	9	0.44086	T	0.13	-14.512	14.0116	0.64500	0.0:0.7467:0.2533:0.0	.	69;69	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	K	69	ENSP00000337397:E69K	ENSP00000337397:E69K	E	-	1	0	PKD1L2	79811272	1.000000	0.71417	0.064000	0.19789	0.014000	0.08584	3.842000	0.55858	2.153000	0.67306	0.563000	0.77884	GAA		PASS	0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			16	43	16	43	---	---	---	---
BCO1	53630	broad.mit.edu	37	16	81279095	81279095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81279095G>A	ENST00000258168.2	+	2	541	c.80G>A	c.(79-81)tGg>tAg	p.W27*	BCMO1_ENST00000425577.2_Start_Codon_SNP_p.M1I|BCMO1_ENST00000564552.1_Nonsense_Mutation_p.W27*	NM_017429.2	NP_059125.2												p.W27*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ATTCCAGCATGGCTGCAGGGA	0.512																																						uc002fgn.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(79-81)TGG>TAG		beta-carotene 15,15'-monooxygenase							158.0	156.0	157.0					16																	81279095		2202	4300	6502	SO:0001587	stop_gained	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81279095G>A																												ENST00000258168.2:c.80G>A	16.37:g.81279095G>A	ENSP00000258168:p.Trp27*					BCMO1_uc002fgm.1_Nonsense_Mutation_p.W27*|BCMO1_uc010vnp.1_Missense_Mutation_p.M1I	p.W27*	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			2	298	+			27						Nonsense_Mutation	SNP	ENST00000258168.2	37	c.80G>A	CCDS10934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.886917|7.886917	0.98542|0.98542	.|.	.|.	ENSG00000135697|ENSG00000135697	ENST00000425577|ENST00000258168	D|.	0.92595|.	-3.07|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45816|.	0.1361|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.15870|.	0.014|.	T|.	0.36040|.	-0.9764|.	8|.	0.87932|0.02654	D|T	0|1	-16.029|-16.029	18.0482|18.0482	0.89340|0.89340	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1|.	E7EM88|.	.|.	I|X	1|27	ENSP00000400586:M1I|.	ENSP00000400586:M1I|ENSP00000258168:W27X	M|W	+|+	3|2	0|0	BCMO1|BCMO1	79836596|79836596	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.488000|0.488000	0.33401|0.33401	8.996000|8.996000	0.93539|0.93539	2.411000|2.411000	0.81874|0.81874	0.655000|0.655000	0.94253|0.94253	ATG|TGG		PASS	0.512	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			40	77	40	77	---	---	---	---
BCO1	53630	broad.mit.edu	37	16	81303772	81303772	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81303772C>T	ENST00000258168.2	+	7	1313	c.852C>T	c.(850-852)atC>atT	p.I284I	BCMO1_ENST00000425577.2_Silent_p.I215I	NM_017429.2	NP_059125.2												p.I284I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AGACTTATATCCACATCATCG	0.552																																						uc002fgn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)ATC>ATT		beta-carotene 15,15'-monooxygenase							156.0	140.0	145.0					16																	81303772		2202	4300	6502	SO:0001819	synonymous_variant	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81303772C>T																												ENST00000258168.2:c.852C>T	16.37:g.81303772C>T						BCMO1_uc010vnp.1_Silent_p.I215I	p.I284I	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			7	1070	+			284						Silent	SNP	ENST00000258168.2	37	c.852C>T	CCDS10934.1																																																																																				PASS	0.552	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			44	74	44	74	---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81735267	81735267	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:81735267C>T	ENST00000537098.3	+	16	1830	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Silent_p.I433I|CMIP_ENST00000539778.2_Silent_p.I492I	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	586						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I586I(1)|p.I491I(1)		endometrium(5)|kidney(1)|lung(7)	13						CTGGACAGATCCTGTGCTTGA	0.557																																						uc002fgp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1756-1758)ATC>ATT		c-Maf-inducing protein isoform C-mip							200.0	209.0	206.0					16																	81735267		2142	4250	6392	SO:0001819	synonymous_variant	80790					cytoplasm|nucleus		g.chr16:81735267C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1758C>T	16.37:g.81735267C>T						CMIP_uc002fgq.1_Silent_p.I492I|CMIP_uc010vnq.1_Silent_p.I399I|CMIP_uc002fgr.1_Silent_p.I433I	p.I586I	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			16	1830	+			552					Q9C0G9	Silent	SNP	ENST00000537098.3	37	c.1758C>T	CCDS54044.1																																																																																				PASS	0.557	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		53	94	53	94	---	---	---	---
DNAAF1	123872	broad.mit.edu	37	16	84188257	84188257	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:84188257A>T	ENST00000378553.5	+	4	552	c.428A>T	c.(427-429)aAa>aTa	p.K143I	DNAAF1_ENST00000334315.5_Missense_Mutation_p.K143I	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	143					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|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)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.K143I(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAATACAGAAAATCGAAAAC	0.473																																						uc002fhl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)AAA>ATA		leucine rich repeat containing 50							101.0	95.0	97.0					16																	84188257		2200	4300	6500	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84188257A>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.428A>T	16.37:g.84188257A>T	ENSP00000367815:p.Lys143Ile					LRRC50_uc010chi.1_RNA	p.K143I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			4	609	+			143			LRR 2.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.428A>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154441	0.38021	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22539	1.95;1.95	4.99	-1.33	0.09172	.	0.417237	0.25233	N	0.032147	T	0.28034	0.0691	M	0.69185	2.1	0.24316	N	0.995062	P	0.47604	0.898	P	0.49799	0.622	T	0.17899	-1.0354	10	0.72032	D	0.01	-16.5272	10.0243	0.42061	0.673:0.0:0.327:0.0	.	143	Q8NEP3	DAAF1_HUMAN	I	143	ENSP00000334593:K143I;ENSP00000367815:K143I	ENSP00000334593:K143I	K	+	2	0	DNAAF1	82745758	0.988000	0.35896	0.790000	0.31976	0.008000	0.06430	1.157000	0.31724	-0.620000	0.05641	-1.080000	0.02220	AAA		PASS	0.473	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		9	46	9	46	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84214690	84214690	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:84214690G>A	ENST00000567759.1	-	11	1527	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TAF1C_ENST00000566732.1_Missense_Mutation_p.P423S|TAF1C_ENST00000378541.4_Missense_Mutation_p.P449S|TAF1C_ENST00000541676.1_Missense_Mutation_p.P356S|TAF1C_ENST00000341690.6_Missense_Mutation_p.P356S|TAF1C_ENST00000570117.1_Missense_Mutation_p.P117S	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	449					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.P449S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGCATTTGGGGCTGGAGTGC	0.607																																						uc002fhn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1345-1347)CCC>TCC		TBP-associated factor 1C isoform 1							57.0	59.0	58.0					16																	84214690		2200	4300	6500	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84214690G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1345C>T	16.37:g.84214690G>A	ENSP00000455265:p.Pro449Ser					TAF1C_uc002fhm.2_Missense_Mutation_p.P356S|TAF1C_uc010vnx.1_Missense_Mutation_p.P423S|TAF1C_uc010vny.1_Missense_Mutation_p.P40S|TAF1C_uc010vnz.1_Missense_Mutation_p.P117S|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.P117S|TAF1C_uc002fhp.1_Intron	p.P449S	NM_005679	NP_005670	Q15572	TAF1C_HUMAN			11	1573	-			449					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1345C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332273	0.10956	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.63744	-0.06;-0.06;-0.06	4.56	3.59	0.41128	.	0.338596	0.21489	N	0.073702	T	0.54886	0.1886	M	0.67953	2.075	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.001	B;B;B	0.12156	0.007;0.005;0.007	T	0.44019	-0.9355	10	0.07325	T	0.83	-9.5067	11.4632	0.50223	0.0949:0.0:0.9051:0.0	.	423;449;356	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	S	449;356;356	ENSP00000367802:P449S;ENSP00000437900:P356S;ENSP00000345305:P356S	ENSP00000345305:P356S	P	-	1	0	TAF1C	82772191	0.177000	0.23109	0.005000	0.12908	0.041000	0.13682	0.708000	0.25719	0.553000	0.29044	-0.797000	0.03246	CCC		PASS	0.607	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		13	25	13	25	---	---	---	---
CRISPLD2	83716	broad.mit.edu	37	16	84872129	84872129	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:84872129C>T	ENST00000262424.5	+	2	252	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	CRISPLD2_ENST00000569090.1_Missense_Mutation_p.P10S|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P10S|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P10S|CRISPLD2_ENST00000566431.1_3'UTR	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	10					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.P10S(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGGTGTCATCCCCTTGGGGCT	0.622																																						uc010voh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)CCC>TCC		cysteine-rich secretory protein LCCL domain							138.0	128.0	132.0					16																	84872129		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84872129C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.28C>T	16.37:g.84872129C>T	ENSP00000262424:p.Pro10Ser					CRISPLD2_uc010vog.1_Missense_Mutation_p.P10S|CRISPLD2_uc002fio.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fik.3_Missense_Mutation_p.P10S|CRISPLD2_uc002fil.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fim.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fin.3_Missense_Mutation_p.P10S	p.P10S	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			2	255	+			10					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.28C>T	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	C	6.294	0.422420	0.11928	.	.	ENSG00000103196	ENST00000262424	T	0.62105	0.05	5.25	0.944	0.19537	.	0.562107	0.20369	N	0.093696	T	0.35970	0.0950	N	0.20986	0.625	0.09310	N	1	B;B;B;B;B;B	0.33637	0.006;0.041;0.008;0.004;0.041;0.42	B;B;B;B;B;B	0.29176	0.003;0.019;0.004;0.003;0.007;0.099	T	0.14062	-1.0486	10	0.14252	T	0.57	.	4.331	0.11064	0.1538:0.5133:0.0:0.3329	.	10;10;10;10;10;10	Q9H0B8;B4E1L1;Q9H0B8-5;Q9H0B8-2;Q9H0B8-3;Q9H0B8-4	CRLD2_HUMAN;.;.;.;.;.	S	10	ENSP00000262424:P10S	ENSP00000262424:P10S	P	+	1	0	CRISPLD2	83429630	0.000000	0.05858	0.004000	0.12327	0.028000	0.11728	0.294000	0.19047	0.281000	0.22233	-0.258000	0.10820	CCC		PASS	0.622	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		32	61	32	61	---	---	---	---
CRISPLD2	83716	broad.mit.edu	37	16	84906690	84906690	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:84906690C>T	ENST00000262424.5	+	10	1298	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	CRISPLD2_ENST00000567845.1_Silent_p.F357F|CRISPLD2_ENST00000564567.1_Silent_p.F358F	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	358	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.F358F(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGGTCCCCTTCTTCGTGAAGT	0.562																																						uc010voh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)TTC>TTT		cysteine-rich secretory protein LCCL domain							131.0	125.0	127.0					16																	84906690		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906690C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1074C>T	16.37:g.84906690C>T						CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F357F|CRISPLD2_uc002fim.2_Silent_p.F358F|CRISPLD2_uc002fin.3_Silent_p.F358F	p.F358F	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			10	1301	+			358			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.1074C>T	CCDS10949.1																																																																																				PASS	0.562	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		18	41	18	41	---	---	---	---
KIAA0513	9764	broad.mit.edu	37	16	85100745	85100745	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:85100745C>T	ENST00000566428.1	+	2	699	c.68C>T	c.(67-69)cCc>cTc	p.P23L	KIAA0513_ENST00000538274.1_Missense_Mutation_p.P23L|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P23L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.P23L			O60268	K0513_HUMAN	KIAA0513	23						cytoplasm (GO:0005737)		p.P23L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCTCTTCTCCCCTGGAGGCA	0.647																																						uc002fiu.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(67-69)CCC>CTC		hypothetical protein LOC9764							59.0	55.0	56.0					16																	85100745		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100745C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.68C>T	16.37:g.85100745C>T	ENSP00000457408:p.Pro23Leu					KIAA0513_uc002fis.3_Missense_Mutation_p.P23L|KIAA0513_uc010voj.1_Missense_Mutation_p.P23L|KIAA0513_uc002fit.2_Missense_Mutation_p.P23L	p.P23L	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	288	+			23					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.68C>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255301	0.39896	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.49139	0.79;0.8	4.73	4.73	0.59995	.	0.285309	0.39759	N	0.001261	T	0.43656	0.1257	L	0.57536	1.79	0.19575	N	0.999964	P;B	0.35575	0.51;0.061	B;B	0.35413	0.202;0.062	T	0.50276	-0.8847	10	0.72032	D	0.01	-10.5652	10.3478	0.43916	0.0:0.9084:0.0:0.0916	.	23;23	B4DSS5;O60268	.;K0513_HUMAN	L	23	ENSP00000446439:P23L;ENSP00000258180:P23L	ENSP00000258180:P23L	P	+	2	0	KIAA0513	83658246	0.018000	0.18449	0.017000	0.16124	0.010000	0.07245	1.574000	0.36482	2.338000	0.79540	0.561000	0.74099	CCC		PASS	0.647	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		11	29	11	29	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85946809	85946809	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:85946809C>T	ENST00000268638.5	+	5	942	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	174					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.L174F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGTCAGCTCCTTCCAGACTG	0.617																																						uc002fjh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(520-522)CTT>TTT		interferon regulatory factor 8							81.0	86.0	84.0					16																	85946809		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946809C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.520C>T	16.37:g.85946809C>T	ENSP00000268638:p.Leu174Phe					IRF8_uc010chp.2_Intron	p.L174F	NM_002163	NP_002154	Q02556	IRF8_HUMAN			5	577	+		Prostate(104;0.0771)	174					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.520C>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163537	0.21538	.	.	ENSG00000140968	ENST00000268638	D	0.97089	-4.24	4.86	2.77	0.32553	.	1.179050	0.06064	N	0.658951	D	0.94847	0.8335	L	0.53249	1.67	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.84887	0.0834	10	0.15952	T	0.53	-26.2814	9.5373	0.39231	0.1968:0.7179:0.0:0.0853	.	174	Q02556	IRF8_HUMAN	F	174	ENSP00000268638:L174F	ENSP00000268638:L174F	L	+	1	0	IRF8	84504310	0.021000	0.18746	0.999000	0.59377	0.974000	0.67602	1.142000	0.31540	1.196000	0.43129	0.561000	0.74099	CTT		PASS	0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		20	42	20	42	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88893133	88893133	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:88893133G>A	ENST00000268695.5	-	10	1204	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	GALNS_ENST00000542788.1_Silent_p.L297L|AC092384.1_ENST00000593752.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	372	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.L372L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGCCCTGCAGGAGGGTGGGGA	0.657																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(1114-1116)CTC>CTT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						30.0	30.0	30.0					16																	88893133		2197	4300	6497	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88893133G>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.1116C>T	16.37:g.88893133G>A						GALNS_uc010cid.2_Silent_p.L378L|GALNS_uc002flz.3_Silent_p.L55L	p.L372L	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	10	1205	-			372					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.1116C>T	CCDS10970.1																																																																																				PASS	0.657	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			5	5	5	5	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89294367	89294368	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:89294367_89294368GG>AA	ENST00000433976.2	+	6	1919_1920	c.1587_1588GG>AA	c.(1585-1590)gaGGag>gaAAag	p.E530K	ZNF778_ENST00000306502.6_Missense_Mutation_p.E488K|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	530					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.E530K(2)|p.E529E(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CTCACACAGAGGAGAAGCCCTT	0.436																																						uc002fmv.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1585-1587)GAG>GAA|c.(1588-1590)GAG>AAG		zinc finger protein 778																																				SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294367G>A|g.chr16:89294368G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		Exception_encountered	16.37:g.89294367_89294368delinsAA	ENSP00000405289:p.Glu530Lys					ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.E487E|ZNF778_uc010vpg.1_Silent_p.E292E|ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.E488K|ZNF778_uc010vpg.1_Missense_Mutation_p.E293K	p.E529E|p.E530K	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	1926|1927	+			529|530					Q08AG0	Silent|Missense_Mutation	SNP	ENST00000433976.2	37	c.1587G>A|c.1588G>A	CCDS45550.1																																																																																				PASS	0.436	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		14|15	64|62	14	62	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89598911	89598911	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:89598911C>T	ENST00000268704.2	+	9	1206	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	SPG7_ENST00000341316.2_Silent_p.A397A|RNU7-117P_ENST00000516770.1_RNA	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	397					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.A397A(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTAAGGAAGCCCGAGCCCGGG	0.592																																						uc002fnj.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1189-1191)GCC>GCT		spastic paraplegia 7 isoform 1							35.0	40.0	38.0					16																	89598911		2194	4292	6486	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598911C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1191C>T	16.37:g.89598911C>T						SPG7_uc002fni.2_Silent_p.A397A	p.A397A	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1212	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	397			Mitochondrial matrix (Potential).		O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1191C>T	CCDS10977.1																																																																																				PASS	0.592	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		5	21	5	21	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89657454	89657454	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:89657454G>A	ENST00000268720.5	+	14	1511	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	CPNE7_ENST00000319518.8_Missense_Mutation_p.D386N	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	461	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.D461N(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)		CCCTGAGGACGATGAGTGTGA	0.642																																						uc002fnp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1381-1383)GAT>AAT		copine 7 isoform b							75.0	71.0	72.0					16																	89657454		2198	4299	6497	SO:0001583	missense	27132				lipid metabolic process		transporter activity	g.chr16:89657454G>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.1381G>A	16.37:g.89657454G>A	ENSP00000268720:p.Asp461Asn					CPNE7_uc002fnq.2_Missense_Mutation_p.D386N	p.D461N	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)	14	1511	+		all_hematologic(23;0.0748)	461			VWFA.			Missense_Mutation	SNP	ENST00000268720.5	37	c.1381G>A	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159274	0.38119	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.21932	1.98;1.98;1.98	3.77	2.71	0.32032	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.47716	1.5	0.40108	D	0.976458	D;D	0.76494	0.999;0.998	P;D	0.64776	0.892;0.929	T	0.17561	-1.0365	10	0.87932	D	0	-22.5315	10.8617	0.46831	0.0:0.1915:0.8085:0.0	.	386;461	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	N	386;461;106	ENSP00000317374:D386N;ENSP00000268720:D461N;ENSP00000435876:D106N	ENSP00000268720:D461N	D	+	1	0	CPNE7	88184955	0.823000	0.29233	0.408000	0.26446	0.126000	0.20510	2.618000	0.46393	1.813000	0.52934	0.457000	0.33378	GAT		PASS	0.642	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			9	20	9	20	---	---	---	---
CDK10	8558	broad.mit.edu	37	16	89756978	89756978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:89756978C>T	ENST00000353379.7	+	3	221	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Nonsense_Mutation_p.Q13*|CDK10_ENST00000505473.1_5'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.Q60*(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCGGGACACCCAGACAGATGA	0.582																																						uc010cio.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(178-180)CAG>TAG		cyclin-dependent kinase 10 isoform a							214.0	173.0	187.0					16																	89756978		2198	4300	6498	SO:0001587	stop_gained	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89756978C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.178C>T	16.37:g.89756978C>T	ENSP00000338673:p.Gln60*					CDK10_uc002foa.2_Nonsense_Mutation_p.Q54*|CDK10_uc010cip.2_5'UTR|CDK10_uc010vpl.1_Nonsense_Mutation_p.Q54*|CDK10_uc002fob.2_5'UTR|CDK10_uc002fod.2_5'UTR|CDK10_uc002foe.2_5'UTR|CDK10_uc002fof.2_5'UTR|CDK10_uc002fog.3_5'UTR|CDK10_uc002foh.3_5'UTR	p.Q60*	NM_052988	NP_443714	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	3	221	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	60			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Nonsense_Mutation	SNP	ENST00000353379.7	37	c.178C>T	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	C	50	16.303464	0.99860	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000353379	.	.	.	5.1	4.13	0.48395	.	0.627314	0.17431	N	0.174463	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3268	9.7253	0.40328	0.2808:0.5833:0.1359:0.0	.	.	.	.	X	13;31;60	.	ENSP00000329957:Q13X	Q	+	1	0	CDK10	88284479	0.942000	0.31987	0.998000	0.56505	0.991000	0.79684	2.082000	0.41605	1.087000	0.41251	0.561000	0.74099	CAG		PASS	0.582	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			19	26	19	26	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89804583	89804583	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:89804583G>A	ENST00000443381.2	+	11	1871	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ZNF276_ENST00000289816.5_Missense_Mutation_p.E517K|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.E378K	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E517K(1)|p.E592K(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTGGAGGCGGAACCACCACC	0.647																																						uc002fos.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1774-1776)GAA>AAA		zinc finger protein 276 isoform a							31.0	25.0	27.0					16																	89804583		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89804583G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1774G>A	16.37:g.89804583G>A	ENSP00000415836:p.Glu592Lys					ZNF276_uc010ciq.2_Missense_Mutation_p.E378K|ZNF276_uc002fop.2_3'UTR|ZNF276_uc002foq.3_Missense_Mutation_p.E517K|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.E378K|ZNF276_uc010cis.2_Missense_Mutation_p.E351K|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.E430K|ZNF276_uc010cit.1_3'UTR|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	p.E592K	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	11	1871	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	592					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1774G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212255	0.39102	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.06294	3.37;3.32;3.37	4.03	4.03	0.46877	.	0.353495	0.26453	N	0.024285	T	0.08044	0.0201	L	0.27053	0.805	0.80722	D	1	D;P;B	0.55172	0.97;0.78;0.247	P;B;B	0.48704	0.587;0.265;0.038	T	0.46034	-0.9220	10	0.27082	T	0.32	-33.3416	15.1605	0.72782	0.0:0.0:1.0:0.0	.	430;592;378	B4DIT3;Q8N554;A8K186	.;ZN276_HUMAN;.	K	378;517;592	ENSP00000415999:E378K;ENSP00000289816:E517K;ENSP00000415836:E592K	ENSP00000289816:E517K	E	+	1	0	ZNF276	88332084	1.000000	0.71417	0.301000	0.25044	0.257000	0.26127	4.191000	0.58372	1.766000	0.52107	0.561000	0.74099	GAA		PASS	0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		4	8	4	8	---	---	---	---
TUBB3	10381	broad.mit.edu	37	16	90002183	90002183	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:90002183G>A	ENST00000315491.7	+	4	1447	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	TUBB3_ENST00000554444.1_Missense_Mutation_p.E370K|TUBB3_ENST00000304984.5_Missense_Mutation_p.E370K|TUBB3_ENST00000556922.1_Missense_Mutation_p.E789K|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	442					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E442K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	AGACGACGAGGAGGAGTCGGA	0.657																																						uc002fph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1324-1326)GAG>AAG		tubulin, beta, 4							48.0	49.0	49.0					16																	90002183		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90002183G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1324G>A	16.37:g.90002183G>A	ENSP00000320295:p.Glu442Lys					TUBB3_uc002fpf.2_Missense_Mutation_p.E789K|TUBB3_uc010ciz.1_Missense_Mutation_p.E370K|TUBB3_uc002fpg.1_Missense_Mutation_p.E296K|TUBB3_uc002fpi.1_Missense_Mutation_p.E370K|TUBB3_uc002fpj.1_Missense_Mutation_p.E370K|TUBB3_uc010cjb.1_Missense_Mutation_p.E296K|TUBB3_uc002fpk.1_Missense_Mutation_p.E296K	p.E442K	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	1389	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	442					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.1324G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963082	0.53507	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.66	4.66	0.58398	.	0.495352	0.18700	N	0.133586	T	0.68320	0.2988	L	0.60455	1.87	0.58432	D	0.99999	B;P	0.46395	0.012;0.877	B;B	0.40741	0.017;0.339	T	0.70749	-0.4787	9	.	.	.	.	16.6871	0.85311	0.0:0.0:1.0:0.0	.	442;442	Q13509;B2RBD5	TBB3_HUMAN;.	K	789;442;370;370;442	ENSP00000451560:E789K;ENSP00000302777:E370K;ENSP00000451617:E370K;ENSP00000320295:E442K	.	E	+	1	0	RP11-566K11.2;TUBB3	88529684	1.000000	0.71417	0.943000	0.38184	0.910000	0.53928	6.348000	0.73009	2.313000	0.78055	0.561000	0.74099	GAG		PASS	0.657	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		23	34	23	34	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90103747	90103747	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr16:90103747G>A	ENST00000268699.4	+	7	986	c.864G>A	c.(862-864)gaG>gaA	p.E288E	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.E263E	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	288					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.E288E(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGGCTCGGGAGGAGATGAGCG	0.582																																						uc002fqi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(862-864)GAG>GAA		growth arrest-specific 8							68.0	64.0	65.0					16																	90103747		2198	4300	6498	SO:0001819	synonymous_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103747G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.864G>A	16.37:g.90103747G>A						GAS8_uc010vps.1_Silent_p.E263E|GAS8_uc002fqh.2_Silent_p.E205E|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Silent_p.E259E|GAS8_uc010cjc.1_Silent_p.E205E|GAS8_uc010vpw.1_Silent_p.E205E|GAS8_uc002fqj.1_Silent_p.E96E	p.E288E	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	986	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	288			Potential.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Silent	SNP	ENST00000268699.4	37	c.864G>A	CCDS10992.1																																																																																				PASS	0.582	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			12	17	12	17	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538884	1538884	+	Missense_Mutation	SNP	G	G	A	rs192116593		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:1538884G>A	ENST00000263071.4	-	11	1710	c.1661C>T	c.(1660-1662)tCg>tTg	p.S554L	SCARF1_ENST00000348987.3_Missense_Mutation_p.S468L|SCARF1_ENST00000571272.1_Missense_Mutation_p.R542C	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	554	Pro/Ser-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S554L(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCTCTGACGACCCTGCCTG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15866	0.0		0.0	False		,,,				2504	0.0					uc002fsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1660-1662)TCG>TTG		scavenger receptor class F, member 1 isoform 1							20.0	22.0	21.0					17																	1538884		2190	4289	6479	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538884G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1661C>T	17.37:g.1538884G>A	ENSP00000263071:p.Ser554Leu					SCARF1_uc002fsy.1_Missense_Mutation_p.R542C|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.S468L	p.S554L	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1711	-			554			Pro/Ser-rich.|Cytoplasmic (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1661C>T	CCDS11007.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	1.064|1.064	-0.672044|-0.672044	0.03403|0.03403	.|.	.|.	ENSG00000074660|ENSG00000074660	ENST00000434376|ENST00000263071;ENST00000348987	.|T;T	.|0.37411	.|1.2;1.2	5.21|5.21	1.65|1.65	0.23941|0.23941	.|.	.|0.586530	.|0.13371	.|N	.|0.392915	T|T	0.13927|0.13927	0.0337|0.0337	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.06786	0.0|0.001;0.001	B|B;B	0.04013|0.04013	0.001|0.001;0.001	T|T	0.26950|0.26950	-1.0088|-1.0088	7|9	0.49607|0.09843	T|T	0.09|0.71	-0.4513|-0.4513	2.1004|2.1004	0.03678|0.03678	0.2615:0.1341:0.4672:0.1372|0.2615:0.1341:0.4672:0.1372	.|.	542|468;554	Q14162-3|Q14162-2;Q14162	.|.;SREC_HUMAN	C|L	542|554;468	.|ENSP00000263071:S554L;ENSP00000323964:S468L	ENSP00000411167:R542C|ENSP00000263071:S554L	R|S	-|-	1|2	0|0	SCARF1|SCARF1	1485634|1485634	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.051000|0.051000	0.14879|0.14879	0.089000|0.089000	0.15002|0.15002	0.595000|0.595000	0.29777|0.29777	-0.263000|-0.263000	0.10527|0.10527	CGT|TCG		PASS	0.667	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		8	2	8	2	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1542192	1542192	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:1542192G>A	ENST00000263071.4	-	8	1321	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SCARF1_ENST00000348987.3_Silent_p.I338I|SCARF1_ENST00000571272.1_Silent_p.I424I|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	424					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.I424I(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCTGCCCGCGATGAGGGCAG	0.627																																						uc002fsz.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1270-1272)ATC>ATT		scavenger receptor class F, member 1 isoform 1							45.0	48.0	47.0					17																	1542192		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1542192G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1272C>T	17.37:g.1542192G>A						SCARF1_uc002fsy.1_Silent_p.I424I|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.I338I	p.I424I	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	8	1322	-			424			Helical; (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1272C>T	CCDS11007.1																																																																																				PASS	0.627	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		6	23	6	23	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1543015	1543015	+	Silent	SNP	G	G	C	rs563347341		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:1543015G>C	ENST00000263071.4	-	7	1210	c.1161C>G	c.(1159-1161)gcC>gcG	p.A387A	SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Silent_p.A387A|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	387					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.A387A(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATGGAAACCGGCTGGGCAGG	0.602																																						uc002fsz.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1159-1161)GCC>GCG		scavenger receptor class F, member 1 isoform 1							51.0	43.0	45.0					17																	1543015		2202	4300	6502	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543015G>C	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1161C>G	17.37:g.1543015G>C						SCARF1_uc002fsy.1_Silent_p.A387A|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	p.A387A	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	1211	-			387			Extracellular (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1161C>G	CCDS11007.1																																																																																				PASS	0.602	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		6	4	6	4	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1543206	1543206	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:1543206C>T	ENST00000263071.4	-	6	1188	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Splice_Site_p.S380N|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	380	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S380N(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCATCCTTACCTGGGCCCCCA	0.617																																						uc002fsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1138-1140)AGC>AAC		scavenger receptor class F, member 1 isoform 1							48.0	55.0	53.0					17																	1543206		2203	4300	6503	SO:0001630	splice_region_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543206C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1139+1G>A	17.37:g.1543206C>T						SCARF1_uc002fsy.1_Missense_Mutation_p.S380N|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	p.S380N	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1189	-			380			Extracellular (Potential).|EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.1139G>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761876	0.69763	.	.	ENSG00000074660	ENST00000263071;ENST00000434376	T	0.33438	1.41	5.38	4.35	0.52113	Growth factor, receptor (1);EGF-like region, conserved site (1);	0.000000	0.53938	D	0.000042	T	0.51652	0.1687	M	0.62723	1.935	0.80722	D	1	D;B	0.89917	1.0;0.198	D;B	0.83275	0.996;0.159	T	0.48625	-0.9019	9	.	.	.	-26.5671	15.1818	0.72965	0.0:0.8585:0.1415:0.0	.	380;380	Q14162;Q14162-3	SREC_HUMAN;.	N	380	ENSP00000263071:S380N	.	S	-	2	0	SCARF1	1489956	0.845000	0.29573	1.000000	0.80357	0.592000	0.36648	1.056000	0.30480	2.521000	0.84997	0.561000	0.74099	AGC		PASS	0.617	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	Missense_Mutation	11	19	11	19	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1582317	1582317	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:1582317G>A	ENST00000572621.1	-	10	1858	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	PRPF8_ENST00000304992.6_Silent_p.T531T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	531					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.T531T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCACCTTGGTGGTGAGCGTTT	0.522																																						uc002fte.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)	6						c.(1591-1593)ACC>ACT		U5 snRNP-specific protein							169.0	159.0	163.0					17																	1582317		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582317G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1593C>T	17.37:g.1582317G>A							p.T531T	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	11	1707	-			531					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.1593C>T	CCDS11010.1																																																																																				PASS	0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			17	69	17	69	---	---	---	---
OR1D5	8386	broad.mit.edu	37	17	2966538	2966538	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:2966538G>A	ENST00000575751.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|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.R122C(2)		kidney(1)|lung(10)	11						GCCACATAGCGATCATACGCC	0.567																																						uc010vra.1																			2	Substitution - Missense(2)		lung(2)		0						c.(418-420)CGC>TGC		olfactory receptor, family 1, subfamily D,							68.0	76.0	73.0					17																	2966538		2188	4298	6486	SO:0001583	missense	8385							g.chr17:2966538G>A	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.364C>T	17.37:g.2966538G>A	ENSP00000459028:p.Arg122Cys						p.R140C	NM_003552	NP_003543					1	418	-								Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.418C>T	CCDS58499.1																																																																																				PASS	0.567	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		5	25	5	25	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996075	2996075	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:2996075G>A	ENST00000331459.1	-	1	215	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	72					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F72F(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGTGACAAAGAAGAGGTCAG	0.532																																						uc010vrb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(214-216)TTC>TTT		olfactory receptor, family 1, subfamily D,							159.0	161.0	160.0					17																	2996075		2203	4298	6501	SO:0001819	synonymous_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2996075G>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.216C>T	17.37:g.2996075G>A							p.F72F	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	216	-			72			Helical; Name=2; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	c.216C>T	CCDS11019.1																																																																																				PASS	0.532	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		50	90	50	90	---	---	---	---
OR3A4P	390756	broad.mit.edu	37	17	3214417	3214417	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:3214417G>A	ENST00000573491.1	-	0	359																		p.S271S(1)									TGGAGTCTTCGGACAAGGACA	0.552																																						uc002fvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(811-813)TCG>TCA		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							209.0	168.0	182.0					17																	3214417		2203	4300	6503			390756							g.chr17:3214417G>A																													17.37:g.3214417G>A							p.S271S	NR_024128						1	879	+									Silent	SNP	ENST00000573491.1	37	c.813G>A																																																																																					PASS	0.552	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			12	60	12	60	---	---	---	---
CAMKK1	84254	broad.mit.edu	37	17	3779583	3779583	+	Silent	SNP	C	C	A	rs148844492	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:3779583C>A	ENST00000348335.2	-	10	1078	c.930G>T	c.(928-930)acG>acT	p.T310T	CAMKK1_ENST00000158166.5_Silent_p.T348T|CAMKK1_ENST00000381771.2_Silent_p.T348T|CAMKK1_ENST00000381769.2_Silent_p.T337T	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.T310T(1)|p.T348T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GGGTTCCCGCCGTGCTGGACA	0.627																																						uc002fwt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(928-930)ACG>ACT		calcium/calmodulin-dependent protein kinase 1							108.0	84.0	92.0					17																	3779583		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3779583C>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.930G>T	17.37:g.3779583C>A						CAMKK1_uc002fwu.2_Silent_p.T310T|CAMKK1_uc002fwv.2_Silent_p.T348T	p.T310T	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	10	1024	-			310			Protein kinase.		Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.930G>T	CCDS11038.1																																																																																				PASS	0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		4	30	4	30	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3845967	3845967	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:3845967G>A	ENST00000352011.3	-	12	1532	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	ATP2A3_ENST00000309890.7_Missense_Mutation_p.S493F|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S493F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S493F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S493F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S493F			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	493					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S493F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACGGACATGGATTTCCGGTC	0.642																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1477-1479)TCC>TTC		ATPase, Ca++ transporting, ubiquitous isoform b							164.0	129.0	141.0					17																	3845967		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3845967G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1478C>T	17.37:g.3845967G>A	ENSP00000301387:p.Ser493Phe					ATP2A3_uc002fwx.1_Missense_Mutation_p.S493F|ATP2A3_uc002fwy.1_Missense_Mutation_p.S493F|ATP2A3_uc002fwz.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxa.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxc.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxd.1_Missense_Mutation_p.S493F	p.S493F	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	12	1629	-			493			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.1478C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283439	0.59867	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	3.93	3.93	0.45458	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	L	0.43646	1.37	0.80722	D	1	D;P;P;P;P;P	0.89917	1.0;0.953;0.922;0.953;0.953;0.953	D;P;P;P;P;P	0.87578	0.998;0.582;0.537;0.582;0.582;0.582	D	0.88920	0.3365	10	0.72032	D	0.01	.	16.2026	0.82095	0.0:0.0:1.0:0.0	.	493;493;493;493;493;493	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	F	493	ENSP00000380236:S493F;ENSP00000301387:S493F;ENSP00000353072:S493F;ENSP00000380234:S493F;ENSP00000312577:S493F;ENSP00000380229:S493F	ENSP00000312577:S493F	S	-	2	0	ATP2A3	3792716	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	9.595000	0.98260	2.486000	0.83907	0.313000	0.20887	TCC		PASS	0.642	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		21	31	21	31	---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3846781	3846781	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:3846781C>T	ENST00000352011.3	-	11	1377	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	ATP2A3_ENST00000309890.7_Silent_p.T441T|ATP2A3_ENST00000397041.3_Silent_p.T441T|ATP2A3_ENST00000397035.3_Silent_p.T441T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.T441T|ATP2A3_ENST00000397043.3_Silent_p.T441T			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	441					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.T441T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GAGCTGTCTCCGTGGCCTCTC	0.637																																					GBM(32;29 774 15719 37967)	uc002fxb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)	5						c.(1321-1323)ACG>ACA		ATPase, Ca++ transporting, ubiquitous isoform b							158.0	140.0	146.0					17																	3846781		2203	4300	6503	SO:0001819	synonymous_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3846781C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1323G>A	17.37:g.3846781C>T						ATP2A3_uc002fwx.1_Silent_p.T441T|ATP2A3_uc002fwy.1_Silent_p.T441T|ATP2A3_uc002fwz.1_Silent_p.T441T|ATP2A3_uc002fxa.1_Silent_p.T441T|ATP2A3_uc002fxc.1_Silent_p.T441T|ATP2A3_uc002fxd.1_Silent_p.T441T	p.T441T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	11	1474	-			441			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	c.1323G>A	CCDS11041.1																																																																																				PASS	0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		28	72	28	72	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3966127	3966127	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:3966127G>A	ENST00000381638.2	-	30	4927	c.4803C>T	c.(4801-4803)tcC>tcT	p.S1601S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1601							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S1601S(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGCCCAAGGGATTCTGCAC	0.488																																						uc002fxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(4801-4803)TCC>TCT		zinc finger, ZZ type with EF hand domain 1							64.0	64.0	64.0					17																	3966127		2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3966127G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4803C>T	17.37:g.3966127G>A						ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Silent_p.S214S	p.S1601S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			30	4867	-			1601					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.4803C>T	CCDS11043.1																																																																																				PASS	0.488	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	15	4	15	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4722448	4722449	+	Missense_Mutation	DNP	CC	CC	TT	rs267604956		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4722448_4722449CC>TT	ENST00000263088.6	+	22	2374_2375	c.2243_2244CC>TT	c.(2242-2244)cCC>cTT	p.P748L	PLD2_ENST00000572940.1_Missense_Mutation_p.P748L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	748	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.P748L(4)|p.P748P(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGCGGGCACCCCGTCTCGGAGC	0.599																																						uc002fzc.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(2242-2244)CCC>CTC|c.(2242-2244)CCC>CCT		phospholipase D2	Choline(DB00122)																																			SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4722448C>T|g.chr17:4722449C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	Exception_encountered	17.37:g.4722448_4722449delinsTT	ENSP00000263088:p.Pro748Leu					PLD2_uc002fzd.2_Missense_Mutation_p.P748L|PLD2_uc002fzd.2_Silent_p.P748P	p.P748L|p.P748P	NM_002663	NP_002654	O14939	PLD2_HUMAN			22	2344|2345	+			748			Catalytic.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation|Silent	SNP	ENST00000263088.6	37	c.2243C>T|c.2244C>T	CCDS11057.1																																																																																				PASS	0.599	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		9|10	31|29	9	29	---	---	---	---
C17orf107	100130311	broad.mit.edu	37	17	4799981	4799981	+	5'Flank	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4799981C>T	ENST00000381365.3	+	0	0				MINK1_ENST00000355280.6_Missense_Mutation_p.S1263F|MINK1_ENST00000347992.7_Missense_Mutation_p.S1234F|C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000453408.3_Missense_Mutation_p.S1243F	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107									p.S1263F(1)|p.S1234F(1)		endometrium(2)	2						TACATCTGCTCCAACCAGATA	0.637																																						uc010vsl.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(3787-3789)TCC>TTC		misshapen-like kinase 1 isoform 3							39.0	44.0	42.0					17																	4799981		2009	4160	6169	SO:0001631	upstream_gene_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799981C>T	AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4799981C>T	Exception_encountered					MINK1_uc010vsk.1_Missense_Mutation_p.S1234F|MINK1_uc010vsm.1_Missense_Mutation_p.S1243F|MINK1_uc010vsn.1_Missense_Mutation_p.S1226F|MINK1_uc010vso.1_Missense_Mutation_p.S1171F|MINK1_uc010vsp.1_Missense_Mutation_p.S724F|C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank	p.S1263F	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			31	3984	+			1263			Mediates interaction with RAP2A.|CNH.			Missense_Mutation	SNP	ENST00000381365.3	37	c.3788C>T	CCDS45591.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211639	0.79240	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.04809	3.55;3.55;3.55	4.31	4.31	0.51392	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.65815	0.988;0.994;0.995;0.994	D;D;D;D	0.78314	0.915;0.983;0.991;0.983	T	0.00376	-1.1779	10	0.87932	D	0	.	14.6652	0.68901	0.0:1.0:0.0:0.0	.	1226;1243;1263;1234	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	F	1263;1243;1234;223	ENSP00000347427:S1263F;ENSP00000406487:S1243F;ENSP00000269296:S1234F	ENSP00000269296:S1234F	S	+	2	0	MINK1	4740757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.390000	0.81377	0.561000	0.74099	TCC		PASS	0.637	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380556.1	NM_001145536		7	9	7	9	---	---	---	---
CHRNE	1145	broad.mit.edu	37	17	4805916	4805916	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4805916C>T	ENST00000293780.4	-	2	199	c.189G>A	c.(187-189)ctG>ctA	p.L63L	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	63					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.L63L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GGTAGCTTACCAGTGAGATGA	0.532																																						uc002fzk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)CTG>CTA		nicotinic acetylcholine receptor epsilon							158.0	167.0	164.0					17																	4805916		2203	4300	6503	SO:0001630	splice_region_variant	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805916C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.189+1G>A	17.37:g.4805916C>T						C17orf107_uc002fzl.3_3'UTR	p.L63L	NM_000080	NP_000071	Q04844	ACHE_HUMAN			2	200	-			63			Extracellular (Potential).		D3DTK6	Silent	SNP	ENST00000293780.4	37	c.189G>A	CCDS11058.1																																																																																				PASS	0.532	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		Silent	44	82	44	82	---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4848088	4848088	+	Missense_Mutation	SNP	G	G	T	rs533263381		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4848088G>T	ENST00000262482.6	+	10	1486	c.830G>T	c.(829-831)cGg>cTg	p.R277L	RNF167_ENST00000572430.1_Missense_Mutation_p.R277L|RNF167_ENST00000576229.1_Missense_Mutation_p.R242L|RNF167_ENST00000575111.1_Missense_Mutation_p.R277L|RNF167_ENST00000571816.1_Missense_Mutation_p.R277L	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	277					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	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.R277L(1)		endometrium(1)|large_intestine(2)|lung(1)	4						CCTGTTCATCGGGGTCCTGGG	0.597																																						uc002fzq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CGG>CTG		ring finger protein 167 precursor							115.0	114.0	114.0					17																	4848088		2203	4300	6503	SO:0001583	missense	26001				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:4848088G>T	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.830G>T	17.37:g.4848088G>T	ENSP00000262482:p.Arg277Leu					RNF167_uc002fzr.2_Missense_Mutation_p.R277L|RNF167_uc002fzs.2_Missense_Mutation_p.R277L|RNF167_uc002fzt.2_Missense_Mutation_p.R277L|RNF167_uc002fzu.2_Missense_Mutation_p.R276L|RNF167_uc002fzv.2_Missense_Mutation_p.R242L|RNF167_uc002fzx.2_Missense_Mutation_p.R241L|RNF167_uc002fzy.2_Missense_Mutation_p.R76L	p.R277L	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN			11	1246	+			277					D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	c.830G>T	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551883	0.45487	.	.	ENSG00000108523	ENST00000262482	T	0.65732	-0.17	5.14	1.9	0.25705	.	0.072726	0.53938	D	0.000055	T	0.34774	0.0909	N	0.04787	-0.16	0.26810	N	0.96903	P;P	0.42010	0.713;0.768	B;B	0.40825	0.274;0.341	T	0.17776	-1.0358	10	0.46703	T	0.11	0.4165	3.7968	0.08743	0.305:0.1833:0.5117:0.0	.	85;277	Q9Y4L6;Q9H6Y7	.;RN167_HUMAN	L	277	ENSP00000262482:R277L	ENSP00000262482:R277L	R	+	2	0	RNF167	4788833	0.033000	0.19621	0.083000	0.20561	0.936000	0.57629	0.400000	0.20932	0.757000	0.33036	0.557000	0.71058	CGG		PASS	0.597	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528		5	57	5	57	---	---	---	---
SPAG7	9552	broad.mit.edu	37	17	4863819	4863819	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4863819G>A	ENST00000206020.3	-	3	244	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SPAG7_ENST00000575142.1_Silent_p.F48F|SPAG7_ENST00000573366.1_Silent_p.F8F	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	59	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.F59F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGTCTTGAATGAAATCTGACA	0.522																																						uc002gae.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(175-177)TTC>TTT		sperm associated antigen 7							166.0	154.0	158.0					17																	4863819		1949	4155	6104	SO:0001819	synonymous_variant	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863819G>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.177C>T	17.37:g.4863819G>A						SPAG7_uc002gad.2_Silent_p.F8F|SPAG7_uc002gaf.2_Silent_p.F59F	p.F59F	NM_004890	NP_004881	O75391	SPAG7_HUMAN			3	210	-			59			R3H.		Q96EU5	Silent	SNP	ENST00000206020.3	37	c.177C>T	CCDS42240.1																																																																																				PASS	0.522	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		34	51	34	51	---	---	---	---
KIF1C	10749	broad.mit.edu	37	17	4906956	4906957	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:4906956_4906957CC>TT	ENST00000320785.5	+	9	1127_1128	c.770_771CC>TT	c.(769-771)tCC>tTT	p.S257F		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	257	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.S257F(2)|p.S257S(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGAGCCGACTCCTCAGGGGCCC	0.624																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(2)	2						c.(769-771)TCC>TTC|c.(769-771)TCC>TCT		kinesin family member 1C																																				SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4906956C>T|g.chr17:4906957C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	Exception_encountered	17.37:g.4906956_4906957delinsTT	ENSP00000320821:p.Ser257Phe						p.S257F|p.S257S	NM_006612	NP_006603	O43896	KIF1C_HUMAN			9	1096|1097	+			257			Kinesin-motor.		D3DTL6|O75186|Q5U618	Missense_Mutation|Silent	SNP	ENST00000320785.5	37	c.770C>T|c.771C>T	CCDS11065.1																																																																																				PASS	0.624	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			13	2	13	2	---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6329102	6329102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:6329102C>T	ENST00000381129.3	-	6	913	c.833G>A	c.(832-834)tGg>tAg	p.W278*	AIPL1_ENST00000576307.1_Nonsense_Mutation_p.W218*|AIPL1_ENST00000574506.1_Nonsense_Mutation_p.W266*|AIPL1_ENST00000250087.5_Nonsense_Mutation_p.W215*|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000576776.1_Nonsense_Mutation_p.W254*|AIPL1_ENST00000570466.1_Nonsense_Mutation_p.W256*	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	278					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.W278*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGCCTCATTCCACACCTCTGC	0.657																																						uc002gcp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(832-834)TGG>TAG		aryl hydrocarbon receptor interacting							31.0	31.0	31.0					17																	6329102		2203	4300	6503	SO:0001587	stop_gained	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6329102C>T	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.833G>A	17.37:g.6329102C>T	ENSP00000370521:p.Trp278*					AIPL1_uc002gcq.2_Nonsense_Mutation_p.W218*|AIPL1_uc002gcr.2_Nonsense_Mutation_p.W215*|AIPL1_uc010clk.2_Nonsense_Mutation_p.W256*|AIPL1_uc010cll.2_Nonsense_Mutation_p.W254*|AIPL1_uc002gcs.2_3'UTR	p.W278*	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	6	928	-			278			TPR 3.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Nonsense_Mutation	SNP	ENST00000381129.3	37	c.833G>A	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963807	0.74131	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000250087;ENST00000444243	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-21.7057	16.0714	0.80940	0.0:1.0:0.0:0.0	.	.	.	.	X	278;218;215;278	.	ENSP00000250087:W215X	W	-	2	0	AIPL1	6269826	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.353000	0.79414	2.387000	0.81309	0.462000	0.41574	TGG		PASS	0.657	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		16	12	16	12	---	---	---	---
SLC2A4	6517	broad.mit.edu	37	17	7186595	7186595	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7186595G>A	ENST00000317370.8	+	2	333	c.65G>A	c.(64-66)gGg>gAg	p.G22E	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.G22E|SLC2A4_ENST00000424875.2_Missense_Mutation_p.G12E	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	22					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.G22E(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGTGACTGGGACCCTGGTC	0.567																																						uc002gfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GGG>GAG		glucose transporter 4							169.0	147.0	155.0					17																	7186595		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7186595G>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.65G>A	17.37:g.7186595G>A	ENSP00000320935:p.Gly22Glu					SLC2A4_uc002gfo.2_Missense_Mutation_p.G22E|SLC2A4_uc010cmd.2_RNA	p.G22E	NM_001042	NP_001033	P14672	GTR4_HUMAN			2	265	+			22			Cytoplasmic (Potential).		Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.65G>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.618115	0.46736	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.81078	0.27;-1.45	5.31	4.32	0.51571	Major facilitator superfamily domain, general substrate transporter (1);	0.125791	0.53938	D	0.000060	T	0.77465	0.4134	L	0.42581	1.335	0.47659	D	0.999489	P;P	0.43024	0.696;0.798	B;P	0.45310	0.284;0.476	T	0.75130	-0.3426	10	0.30854	T	0.27	.	13.9333	0.64010	0.0:0.1537:0.8463:0.0	.	22;12	P14672;F5H081	GTR4_HUMAN;.	E	22;12	ENSP00000320935:G22E;ENSP00000396887:G12E	ENSP00000320935:G22E	G	+	2	0	SLC2A4	7127319	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	1.802000	0.38853	1.331000	0.45412	0.462000	0.41574	GGG		PASS	0.567	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			22	31	22	31	---	---	---	---
KCTD11	147040	broad.mit.edu	37	17	7256759	7256759	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7256759C>T	ENST00000333751.3	+	1	1552	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000576060.1_5'Flank|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000389982.4_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	166					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)		p.L166L(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCGTGGAACTCCCCGAGGTGG	0.677																																						uc002gge.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(496-498)CTC>CTT		potassium channel tetramerisation domain							24.0	27.0	26.0					17																	7256759		2196	4298	6494	SO:0001819	synonymous_variant	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256759C>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.498C>T	17.37:g.7256759C>T						TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	p.L166L	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN			1	1552	+		Prostate(122;0.157)	166					B3KPE0	Silent	SNP	ENST00000333751.3	37	c.498C>T	CCDS32545.1																																																																																				PASS	0.677	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		3	11	3	11	---	---	---	---
SPEM1	374768	broad.mit.edu	37	17	7324589	7324589	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7324589G>A	ENST00000323675.3	+	3	620	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	199					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G199S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTCCGAGCTGGGCCTAAGGGC	0.637																																						uc002ggv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GGC>AGC		spermatid maturation 1							50.0	55.0	53.0					17																	7324589		1943	4111	6054	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324589G>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.595G>A	17.37:g.7324589G>A	ENSP00000315554:p.Gly199Ser					FGF11_uc010vtw.1_Intron	p.G199S	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN			3	620	+		Prostate(122;0.173)	199						Missense_Mutation	SNP	ENST00000323675.3	37	c.595G>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280929	0.23392	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.77	2.75	0.32379	.	0.249857	0.27966	N	0.017132	T	0.27594	0.0678	L	0.34521	1.04	0.09310	N	0.999999	P	0.41450	0.75	B	0.43809	0.432	T	0.08700	-1.0709	9	0.23891	T	0.37	-8.9841	7.8033	0.29187	0.2558:0.0:0.7442:0.0	.	199	Q8N4L4	SPEM1_HUMAN	S	199	.	ENSP00000315554:G199S	G	+	1	0	SPEM1	7265313	0.894000	0.30519	0.560000	0.28344	0.003000	0.03518	2.310000	0.43708	0.379000	0.24794	-0.136000	0.14681	GGC		PASS	0.637	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		11	34	11	34	---	---	---	---
EIF4A1	1973	broad.mit.edu	37	17	7476179	7476179	+	Missense_Mutation	SNP	C	C	T	rs199974690		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7476179C>T	ENST00000293831.8	+	1	36	c.20C>T	c.(19-21)tCc>tTc	p.S7F	EIF4A1_ENST00000577269.1_Missense_Mutation_p.S7F|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.S7F|EIF4A1_ENST00000380512.5_5'UTR	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	7					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.S7F(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGCCAGGATTCCCGGTAAGAA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14381	0.0		0.001	False		,,,				2504	0.0				Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)TCC>TTC		eukaryotic translation initiation factor 4A							126.0	127.0	127.0					17																	7476179		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7476179C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.20C>T	17.37:g.7476179C>T	ENSP00000293831:p.Ser7Phe					EIF4A1_uc002ghr.1_Missense_Mutation_p.S7F|EIF4A1_uc002ghq.1_Missense_Mutation_p.S7F|EIF4A1_uc002ghp.1_Missense_Mutation_p.S7F|SNORA48_uc002ghs.1_5'Flank	p.S7F	NM_001416	NP_001407	P60842	IF4A1_HUMAN			9	1345	+			7					B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.20C>T	CCDS11113.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.07	3.294156	0.60086	.	.	ENSG00000161960	ENST00000293831	T	0.25912	1.77	5.1	5.1	0.69264	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.80722	D	1	B;B;B	0.24920	0.028;0.011;0.114	B;B;B	0.23574	0.021;0.01;0.047	T	0.07597	-1.0764	9	0.59425	D	0.04	-0.4833	13.8978	0.63783	0.0:1.0:0.0:0.0	.	7;7;7	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	F	7	ENSP00000293831:S7F	ENSP00000293831:S7F	S	+	2	0	EIF4A1	7416903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.123000	0.41996	2.651000	0.90000	0.650000	0.86243	TCC		PASS	0.607	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		34	59	34	59	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7678246	7678246	+	Silent	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7678246A>C	ENST00000572933.1	+	29	6131	c.4671A>C	c.(4669-4671)ccA>ccC	p.P1557P	DNAH2_ENST00000389173.2_Silent_p.P1557P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1557	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P1557P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTGCAGCCACACCTCAAAA	0.517																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4669-4671)CCA>CCC		dynein heavy chain domain 3							65.0	68.0	67.0					17																	7678246		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7678246A>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4671A>C	17.37:g.7678246A>C							p.P1557P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			28	4685	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1557			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4671A>C	CCDS32551.1																																																																																				PASS	0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	24	11	24	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7705318	7705318	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7705318C>T	ENST00000572933.1	+	58	10415	c.8955C>T	c.(8953-8955)ctC>ctT	p.L2985L	DNAH2_ENST00000389173.2_Silent_p.L2985L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2985					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2985L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGGAACTCCTGTCTGGAT	0.512																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8953-8955)CTC>CTT		dynein heavy chain domain 3							95.0	88.0	90.0					17																	7705318		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7705318C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8955C>T	17.37:g.7705318C>T						DNAH2_uc010cnm.1_5'Flank	p.L2985L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			57	8969	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2985					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8955C>T	CCDS32551.1																																																																																				PASS	0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		16	27	16	27	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7749997	7749997	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7749997C>T	ENST00000448097.2	+	8	981	c.650C>T	c.(649-651)cCc>cTc	p.P217L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P217L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	217	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.P217L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTCTCAGGCCCCTCAGGGGAG	0.642																																						uc002giw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(649-651)CCC>CTC		lysine (K)-specific demethylase 6B							52.0	58.0	56.0					17																	7749997		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7749997C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.650C>T	17.37:g.7749997C>T	ENSP00000412513:p.Pro217Leu					KDM6B_uc002gix.2_5'Flank	p.P217L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			8	1026	+			217			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.650C>T		.	.	.	.	.	.	.	.	.	.	C	14.93	2.683388	0.47991	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.48836	1.05;0.8	5.14	4.17	0.49024	.	0.164099	0.38959	N	0.001509	T	0.28234	0.0697	N	0.08118	0	0.44424	D	0.997342	B	0.02656	0.0	B	0.09377	0.004	T	0.07028	-1.0794	10	0.51188	T	0.08	-7.4155	12.0591	0.53552	0.0:0.9145:0.0:0.0855	.	217	O15054-1	.	L	217	ENSP00000254846:P217L;ENSP00000412513:P217L	ENSP00000254846:P217L	P	+	2	0	KDM6B	7690722	0.975000	0.34042	1.000000	0.80357	0.988000	0.76386	1.986000	0.40677	1.310000	0.45006	0.561000	0.74099	CCC		PASS	0.642	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		12	32	12	32	---	---	---	---
ALOX15B	247	broad.mit.edu	37	17	7945806	7945806	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7945806C>T	ENST00000380183.4	+	4	708	c.569C>T	c.(568-570)tCt>tTt	p.S190F	ALOX15B_ENST00000380173.2_Missense_Mutation_p.S190F|ALOX15B_ENST00000572022.1_Missense_Mutation_p.S190F|ALOX15B_ENST00000573359.1_Missense_Mutation_p.S190F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	190	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.S190F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGGCTGGCTCTGCGTGAGGA	0.547																																						uc002gju.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)TCT>TTT		arachidonate 15-lipoxygenase, second type							114.0	99.0	104.0					17																	7945806		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7945806C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.569C>T	17.37:g.7945806C>T	ENSP00000369530:p.Ser190Phe					ALOX15B_uc002gjv.2_Missense_Mutation_p.S190F|ALOX15B_uc002gjw.2_Missense_Mutation_p.S190F|ALOX15B_uc010vun.1_Missense_Mutation_p.S190F|ALOX15B_uc010cnp.2_5'UTR	p.S190F	NM_001141	NP_001132	O15296	LX15B_HUMAN			4	685	+			190			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.569C>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952267	0.53293	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89939	-2.59;-2.59	4.39	4.39	0.52855	Lipoxygenase, C-terminal (2);	0.754813	0.12791	N	0.438801	D	0.91188	0.7224	M	0.71581	2.175	0.09310	N	1	P;B;B;B	0.45986	0.87;0.318;0.318;0.212	P;B;B;B	0.49477	0.612;0.127;0.127;0.06	D	0.84965	0.0879	10	0.62326	D	0.03	-20.3521	14.2378	0.65938	0.0:1.0:0.0:0.0	.	190;190;190;190	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	F	190	ENSP00000369520:S190F;ENSP00000369530:S190F	ENSP00000344337:S190F	S	+	2	0	ALOX15B	7886531	0.000000	0.05858	0.104000	0.21259	0.073000	0.16967	0.561000	0.23515	2.135000	0.66039	0.561000	0.74099	TCT		PASS	0.547	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			9	30	9	30	---	---	---	---
PER1	5187	broad.mit.edu	37	17	8053942	8053942	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:8053942G>A	ENST00000317276.4	-	2	320	c.83C>T	c.(82-84)cCt>cTt	p.P28L	PER1_ENST00000581082.1_Missense_Mutation_p.P28L|PER1_ENST00000354903.5_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	28	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				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.P28L(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						TGGGGGCCCAGGGGATGGGAC	0.652			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.(82-84)CCT>CTT	Other_conserved_DNA_damage_response_genes	period 1							61.0	64.0	63.0					17																	8053942		2203	4299	6502	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.chr17:8053942G>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.83C>T	17.37:g.8053942G>A	ENSP00000314420:p.Pro28Leu					PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Missense_Mutation_p.P28L	p.P28L	NM_002616	NP_002607	O15534	PER1_HUMAN			2	321	-			28					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.83C>T	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677741	0.29783	.	.	ENSG00000179094	ENST00000317276	T	0.13196	2.61	4.74	2.68	0.31781	.	0.276343	0.35555	N	0.003125	T	0.07954	0.0199	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.20273	-1.0280	10	0.72032	D	0.01	-5.1038	3.5975	0.08012	0.0921:0.1657:0.5714:0.1708	.	28;28	Q6IN51;O15534	.;PER1_HUMAN	L	28	ENSP00000314420:P28L	ENSP00000314420:P28L	P	-	2	0	PER1	7994667	0.993000	0.37304	0.998000	0.56505	0.658000	0.38924	1.138000	0.31491	0.571000	0.29365	0.563000	0.77884	CCT		PASS	0.652	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			15	25	15	25	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8138499	8138499	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:8138499C>T	ENST00000315684.8	-	8	1318	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	437					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.Q437Q(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCCAGGCTTCTGACGAGAGA	0.617																																						uc002gkq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1309-1311)CAG>CAA		alpha accessory factor 132							71.0	78.0	76.0					17																	8138499		2051	4184	6235	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138499C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1311G>A	17.37:g.8138499C>T						C17orf68_uc010cnv.2_RNA	p.Q437Q	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN			8	1370	-			437					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.1311G>A	CCDS42259.1																																																																																				PASS	0.617	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		49	17	49	17	---	---	---	---
MFSD6L	162387	broad.mit.edu	37	17	8700739	8700739	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:8700739G>A	ENST00000329805.4	-	1	1928	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	567						integral component of membrane (GO:0016021)		p.S567F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCCCTGCTCAGAGTCACTGGT	0.557																																						uc002glp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1699-1701)TCT>TTT		major facilitator superfamily domain containing							105.0	91.0	96.0					17																	8700739		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8700739G>A	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1700C>T	17.37:g.8700739G>A	ENSP00000330051:p.Ser567Phe						p.S567F	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	1848	-			567					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.1700C>T	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540830	0.65085	.	.	ENSG00000185156	ENST00000329805	D	0.95588	-3.75	4.97	3.99	0.46301	.	0.075212	0.53938	D	0.000044	D	0.96833	0.8966	M	0.64997	1.995	0.52501	D	0.999953	D	0.89917	1.0	D	0.80764	0.994	D	0.96750	0.9553	10	0.52906	T	0.07	-6.0427	14.312	0.66422	0.0:0.1501:0.8499:0.0	.	567	Q8IWD5	MFS6L_HUMAN	F	567	ENSP00000330051:S567F	ENSP00000330051:S567F	S	-	2	0	MFSD6L	8641464	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	6.921000	0.75805	1.299000	0.44798	-0.428000	0.05917	TCT		PASS	0.557	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		13	36	13	36	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8785136	8785136	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:8785136G>A	ENST00000447110.1	-	16	2392	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	PIK3R5_ENST00000581552.1_Silent_p.L756L|PIK3R5_ENST00000584803.1_Silent_p.L755L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	756					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.L756L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGCCTTGTTGAGGTTCACGG	0.612																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2266-2268)CTC>CTT		phosphoinositide-3-kinase, regulatory subunit 5							114.0	105.0	108.0					17																	8785136		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785136G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2268C>T	17.37:g.8785136G>A						PIK3R5_uc010vuz.1_Silent_p.L756L|PIK3R5_uc002glu.3_Silent_p.L370L	p.L756L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			16	2335	-			756					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.2268C>T	CCDS11147.1																																																																																				PASS	0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		13	28	13	28	---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9538775	9538775	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:9538775G>A	ENST00000352665.5	+	11	1443	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Silent_p.K390K|WDR16_ENST00000299764.5_Silent_p.K468K	NM_145054.4	NP_659491.4			WD repeat domain 16									p.K458K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGCCCTGAAGGAACACAAGT	0.532																																						uc002gly.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1372-1374)AAG>AAA		WD40-repeat protein upregulated in HCC isoform							161.0	126.0	138.0					17																	9538775		2203	4300	6503	SO:0001819	synonymous_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9538775G>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1374G>A	17.37:g.9538775G>A						WDR16_uc002glz.2_Silent_p.K390K|WDR16_uc010coc.2_Silent_p.K468K	p.K458K	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			11	1443	+			458						Silent	SNP	ENST00000352665.5	37	c.1374G>A	CCDS11149.2																																																																																				PASS	0.532	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		15	22	15	22	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10227347	10227347	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10227347C>T	ENST00000418404.3	-	22	3089	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E976K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	976					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E976K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCTTGTTCTCTGTGGCATGC	0.488																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2926-2928)GAG>AAG		myosin, heavy polypeptide 13, skeletal muscle							93.0	89.0	90.0					17																	10227347		2197	4299	6496	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10227347C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2926G>A	17.37:g.10227347C>T	ENSP00000404570:p.Glu976Lys					MYH13_uc010vve.1_Missense_Mutation_p.E74K	p.E976K	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			23	3016	-			976			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.2926G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101598	0.76983	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.85484	-1.99	4.37	4.37	0.52481	.	.	.	.	.	D	0.93252	0.7850	M	0.90019	3.08	0.49582	D	0.999803	D;D	0.71674	0.991;0.998	P;D	0.65684	0.881;0.937	D	0.94798	0.7968	9	0.87932	D	0	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	602;976	B4DFX9;Q9UKX3	.;MYH13_HUMAN	K	976;602	ENSP00000252172:E976K	ENSP00000252172:E976K	E	-	1	0	MYH13	10168072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	GAG		PASS	0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		15	21	15	21	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10235428	10235428	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10235428G>A	ENST00000418404.3	-	19	2449	c.2286C>T	c.(2284-2286)ttC>ttT	p.F762F	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F762F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	762	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.F762F(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTGTTGCCGAACCTGAACT	0.547																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2284-2286)TTC>TTT		myosin, heavy polypeptide 13, skeletal muscle							120.0	125.0	123.0					17																	10235428		2069	4203	6272	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235428G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2286C>T	17.37:g.10235428G>A							p.F762F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2376	-			762			Myosin head-like.|Actin-binding (By similarity).		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2286C>T	CCDS45613.1																																																																																				PASS	0.547	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		27	29	27	29	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10247140	10247140	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10247140G>A	ENST00000418404.3	-	15	2034	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.S624F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	624	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S624F(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCATAGTTGGAAAAAAGGAA	0.488																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1870-1872)TCC>TTC		myosin, heavy polypeptide 13, skeletal muscle							57.0	59.0	58.0					17																	10247140		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10247140G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1871C>T	17.37:g.10247140G>A	ENSP00000404570:p.Ser624Phe					MYH13_uc010vvf.1_Missense_Mutation_p.S299F	p.S624F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			16	1961	-			624			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1871C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176392	0.57692	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87809	-2.3	4.2	4.2	0.49525	Myosin head, motor domain (2);	.	.	.	.	D	0.88262	0.6389	M	0.80028	2.48	0.49483	D	0.999795	B	0.14805	0.011	B	0.18263	0.021	D	0.87487	0.2424	9	0.72032	D	0.01	.	17.0866	0.86612	0.0:0.0:1.0:0.0	.	624	Q9UKX3	MYH13_HUMAN	F	624;299	ENSP00000252172:S624F	ENSP00000252172:S624F	S	-	2	0	MYH13	10187865	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	6.499000	0.73683	2.320000	0.78422	0.478000	0.44815	TCC		PASS	0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		24	22	24	22	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10261144	10261144	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10261144C>T	ENST00000418404.3	-	7	809	c.646G>A	c.(646-648)Gga>Aga	p.G216R	MYH13_ENST00000252172.4_Splice_Site_p.G216R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	216	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G216R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTAGGGTTCCCTAATAATAA	0.458																																						uc002gmk.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(646-648)GGA>AGA		myosin, heavy polypeptide 13, skeletal muscle							71.0	77.0	75.0					17																	10261144		2152	4272	6424	SO:0001630	splice_region_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10261144C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.646-1G>A	17.37:g.10261144C>T							p.G216R	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			8	736	-			216			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.646G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875703	0.72180	.	.	ENSG00000006788	ENST00000252172	D	0.87571	-2.27	3.94	3.94	0.45596	Myosin head, motor domain (2);	.	.	.	.	D	0.93115	0.7808	M	0.78223	2.4	0.58432	D	0.999995	P	0.52061	0.95	D	0.74023	0.982	D	0.94252	0.7494	9	0.87932	D	0	.	16.5222	0.84320	0.0:1.0:0.0:0.0	.	216	Q9UKX3	MYH13_HUMAN	R	216	ENSP00000252172:G216R	ENSP00000252172:G216R	G	-	1	0	MYH13	10201869	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.492000	0.81482	2.200000	0.70718	0.467000	0.42956	GGA		PASS	0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Missense_Mutation	11	46	11	46	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10296201	10296201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10296201C>A	ENST00000403437.2	-	37	5504	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1804					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1804*(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCAGCTGCTCGGCCTCATCT	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(5410-5412)GAG>TAG		myosin, heavy chain 8, skeletal muscle,							131.0	132.0	131.0					17																	10296201		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296201C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5410G>T	17.37:g.10296201C>A	ENSP00000384330:p.Glu1804*					uc002gml.1_Intron	p.E1804*	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5505	-			1804			Potential.		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.5410G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	46	12.161202	0.99642	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.06	5.06	0.68205	.	0.000000	0.42172	U	0.000755	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6259	0.91338	0.0:1.0:0.0:0.0	.	.	.	.	X	1804	.	ENSP00000252173:E1804X	E	-	1	0	MYH8	10236926	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.567000	0.82357	2.643000	0.89663	0.650000	0.86243	GAG		PASS	0.572	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	68	4	68	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10304884	10304884	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10304884C>T	ENST00000403437.2	-	23	3001	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	969					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.K969K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATGTTTCTCCTTCTCAACCT	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2905-2907)AAG>AAA		myosin, heavy chain 8, skeletal muscle,							288.0	274.0	279.0					17																	10304884		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304884C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2907G>A	17.37:g.10304884C>T						uc002gml.1_Intron	p.K969K	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	3002	-			969			Potential.		Q14910	Silent	SNP	ENST00000403437.2	37	c.2907G>A	CCDS11153.1																																																																																				PASS	0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		38	122	38	122	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10351386	10351386	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10351386C>T	ENST00000255381.2	-	34	4824	c.4714G>A	c.(4714-4716)Gtg>Atg	p.V1572M	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1572					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.V1572M(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGATTTCACCTGATTTAGC	0.373																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4714-4716)GTG>ATG		myosin, heavy polypeptide 4, skeletal muscle							146.0	131.0	136.0					17																	10351386		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351386C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4714G>A	17.37:g.10351386C>T	ENSP00000255381:p.Val1572Met					uc002gml.1_Intron	p.V1572M	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			34	4825	-			1572			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4714G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446001	0.43429	.	.	ENSG00000141048	ENST00000255381	T	0.78481	-1.18	5.52	4.55	0.56014	Myosin tail (1);	0.000000	0.33813	U	0.004534	T	0.77301	0.4110	L	0.53780	1.695	0.45490	D	0.998453	B	0.25772	0.134	B	0.35312	0.2	T	0.76793	-0.2828	10	0.62326	D	0.03	.	14.6277	0.68635	0.0:0.9298:0.0:0.0702	.	1572	Q9Y623	MYH4_HUMAN	M	1572	ENSP00000255381:V1572M	ENSP00000255381:V1572M	V	-	1	0	MYH4	10292111	0.107000	0.21998	1.000000	0.80357	0.971000	0.66376	0.243000	0.18106	1.469000	0.48083	-0.136000	0.14681	GTG		PASS	0.373	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		18	27	18	27	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10399723	10399723	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10399723G>A	ENST00000226207.5	-	34	4894	c.4800C>T	c.(4798-4800)tcC>tcT	p.S1600S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1600					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1600S(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCTCTGCATGGACTCCACGA	0.438																																						uc002gmo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4798-4800)TCC>TCT		myosin, heavy chain 1, skeletal muscle, adult							265.0	234.0	245.0					17																	10399723		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399723G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4800C>T	17.37:g.10399723G>A						uc002gml.1_Intron	p.S1600S	NM_005963	NP_005954	P12882	MYH1_HUMAN			34	4894	-			1600			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.4800C>T	CCDS11155.1																																																																																				PASS	0.438	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		38	65	38	65	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10405195	10405195	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10405195G>A	ENST00000226207.5	-	25	3239	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1049					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1049W(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATCCATCCGGATTTTCTTT	0.348																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(3145-3147)CGG>TGG		myosin, heavy chain 1, skeletal muscle, adult							75.0	63.0	67.0					17																	10405195		2202	4299	6501	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10405195G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3145C>T	17.37:g.10405195G>A	ENSP00000226207:p.Arg1049Trp					uc002gml.1_Intron	p.R1049W	NM_005963	NP_005954	P12882	MYH1_HUMAN			25	3239	-			1049			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3145C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353727	0.82243	.	.	ENSG00000109061	ENST00000226207	D	0.95885	-3.84	5.62	4.64	0.57946	.	0.000000	0.40302	U	0.001129	D	0.98425	0.9476	H	0.97852	4.09	0.80722	D	1	D	0.64830	0.994	P	0.60012	0.867	D	0.99675	1.0997	10	0.87932	D	0	.	16.1116	0.81266	0.0:0.0:0.8651:0.1349	.	1049	P12882	MYH1_HUMAN	W	1049	ENSP00000226207:R1049W	ENSP00000226207:R1049W	R	-	1	2	MYH1	10345920	1.000000	0.71417	0.364000	0.25888	0.985000	0.73830	4.659000	0.61504	1.488000	0.48433	0.650000	0.86243	CGG		PASS	0.348	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		17	13	17	13	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10427837	10427837	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10427837G>A	ENST00000245503.5	-	35	5505	c.5121C>T	c.(5119-5121)atC>atT	p.I1707I	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.I1707I|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1707					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I1707I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTGTTCTGCGATTTTTCTGC	0.542																																						uc010coi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5119-5121)ATC>ATT		myosin heavy chain IIa							101.0	98.0	99.0					17																	10427837		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427837G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5121C>T	17.37:g.10427837G>A						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1707I|MYH2_uc010coj.2_Intron	p.I1707I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5249	-			1707			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5121C>T	CCDS11156.1																																																																																				PASS	0.542	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		22	37	22	37	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10429160	10429160	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10429160C>T	ENST00000245503.5	-	31	4605	c.4221G>A	c.(4219-4221)gaG>gaA	p.E1407E	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.E1407E|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1407					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1407E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTACATGTTCCTCAGCTGCCT	0.478																																						uc010coi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4219-4221)GAG>GAA		myosin heavy chain IIa							58.0	55.0	56.0					17																	10429160		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429160C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4221G>A	17.37:g.10429160C>T						uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.E1407E|MYH2_uc010coj.2_Intron	p.E1407E	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			31	4349	-			1407			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4221G>A	CCDS11156.1																																																																																				PASS	0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		5	26	5	26	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10438597	10438597	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10438597G>A	ENST00000245503.5	-	18	2444	c.2060C>T	c.(2059-2061)cCt>cTt	p.P687L	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.P687L|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	687	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.P687L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCTTACCAGGAGTTTTTGT	0.423																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2059-2061)CCT>CTT		myosin heavy chain IIa							88.0	90.0	90.0					17																	10438597		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438597G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2060C>T	17.37:g.10438597G>A	ENSP00000245503:p.Pro687Leu					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P687L|MYH2_uc010coj.2_Intron	p.P687L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			18	2188	-			687			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2060C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982774	0.93044	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.74737	-0.87;-0.87	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.39146	U	0.001449	D	0.91855	0.7422	H	0.98802	4.335	0.80722	D	1	P	0.45902	0.868	P	0.61592	0.891	D	0.94689	0.7872	10	0.87932	D	0	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	687	Q9UKX2	MYH2_HUMAN	L	687	ENSP00000245503:P687L;ENSP00000380367:P687L	ENSP00000245503:P687L	P	-	2	0	MYH2	10379322	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.631000	0.98424	2.651000	0.90000	0.591000	0.81541	CCT		PASS	0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	18	7	18	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10443353C>T	ENST00000245503.5	-	12	1423	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	MYH2_ENST00000532183.2_Missense_Mutation_p.E347K|MYH2_ENST00000397183.2_Missense_Mutation_p.E347K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	347	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E347K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTTTCTTCATTAGTAAAG	0.423																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1039-1041)GAA>AAA		myosin heavy chain IIa							143.0	137.0	139.0					17																	10443353		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443353C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1039G>A	17.37:g.10443353C>T	ENSP00000245503:p.Glu347Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E347K|MYH2_uc010coj.2_Missense_Mutation_p.E347K	p.E347K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			12	1167	-			347			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1039G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213805	0.95104	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.72835	-0.69;-0.69;-0.69	5.03	5.03	0.67393	Myosin head, motor domain (2);	0.602691	0.13389	U	0.391543	D	0.83746	0.5321	M	0.84156	2.68	0.45979	D	0.998791	B;B	0.30542	0.284;0.278	B;P	0.47626	0.077;0.552	T	0.82977	-0.0189	10	0.87932	D	0	.	17.8989	0.88897	0.0:1.0:0.0:0.0	.	347;347	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	347	ENSP00000433944:E347K;ENSP00000245503:E347K;ENSP00000380367:E347K	ENSP00000245503:E347K	E	-	1	0	MYH2	10384078	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.609000	0.82925	2.787000	0.95880	0.650000	0.86243	GAA		PASS	0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		21	74	21	74	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10447437	10447438	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:10447437_10447438CT>TC	ENST00000245503.5	-	6	896_897	c.512_513AG>GA	c.(511-513)gAG>gGA	p.E171G	MYH2_ENST00000532183.2_Missense_Mutation_p.E171G|MYH2_ENST00000397183.2_Missense_Mutation_p.E171G|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	171	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E171G(2)|p.E171E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGACTGATTCTCTCGGTCTAC	0.312																																						uc010coi.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(511-513)GAG>GAA|c.(511-513)GAG>GGG		myosin heavy chain IIa																																				SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447437C>T|g.chr17:10447438T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.512_513delinsTC	17.37:g.10447437_10447438delinsTC	ENSP00000245503:p.Glu171Gly					uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.E171E|MYH2_uc010coj.2_Silent_p.E171E|uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E171G|MYH2_uc010coj.2_Missense_Mutation_p.E171G	p.E171E|p.E171G	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			6	641|640	-			171			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent|Missense_Mutation	SNP	ENST00000245503.5	37	c.513G>A|c.512A>G	CCDS11156.1																																																																																				PASS	0.312	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		14|12	32	12	32	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572550	11572550	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:11572550C>T	ENST00000262442.4	+	16	2969	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	DNAH9_ENST00000454412.2_Silent_p.S967S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	967	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S967S(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)		CACGGCTTTCCCCACAAAATG	0.542																																						uc002gne.2																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2899-2901)TCC>TCT		dynein, axonemal, heavy chain 9 isoform 2							100.0	95.0	97.0					17																	11572550		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572550C>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.2901C>T	17.37:g.11572550C>T						DNAH9_uc010coo.2_Silent_p.S261S	p.S967S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2969	+		Breast(5;0.0122)|all_epithelial(5;0.131)	967			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.2901C>T	CCDS11160.1																																																																																				PASS	0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		16	45	16	45	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572867	11572867	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:11572867C>T	ENST00000262442.4	+	17	3177	c.3109C>T	c.(3109-3111)Ccg>Tcg	p.P1037S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1037S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1037	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P1037S(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)		CATCCTCACTCCGGAAGAAAT	0.502																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3109-3111)CCG>TCG		dynein, axonemal, heavy chain 9 isoform 2							139.0	137.0	138.0					17																	11572867		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.chr17:11572867C>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.3109C>T	17.37:g.11572867C>T	ENSP00000262442:p.Pro1037Ser					DNAH9_uc010coo.2_Missense_Mutation_p.P331S	p.P1037S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3177	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1037			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3109C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.018083	0.00418	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.24723	1.88;1.84	5.33	0.698	0.18087	.	0.589502	0.17688	N	0.165361	T	0.09555	0.0235	N	0.11560	0.145	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.36866	-0.9730	10	0.06891	T	0.86	.	6.1564	0.20340	0.2049:0.326:0.4037:0.0654	.	1037	Q9NYC9	DYH9_HUMAN	S	1037	ENSP00000262442:P1037S;ENSP00000414874:P1037S	ENSP00000262442:P1037S	P	+	1	0	DNAH9	11513592	0.000000	0.05858	0.024000	0.17045	0.001000	0.01503	0.269000	0.18589	0.204000	0.20548	0.655000	0.94253	CCG		PASS	0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		24	64	24	64	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11648319	11648319	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:11648319G>A	ENST00000262442.4	+	31	6385	c.6317G>A	c.(6316-6318)aGg>aAg	p.R2106K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2106K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2106					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.R2106K(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)		GTCCCCCGGAGGAGAGACCCC	0.532																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6316-6318)AGG>AAG		dynein, axonemal, heavy chain 9 isoform 2							88.0	90.0	89.0					17																	11648319		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.chr17:11648319G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6317G>A	17.37:g.11648319G>A	ENSP00000262442:p.Arg2106Lys					DNAH9_uc010coo.2_Missense_Mutation_p.R1400K	p.R2106K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6385	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2106					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6317G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	7.863	0.726501	0.15439	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.38560	1.13;1.13	5.46	2.04	0.26737	.	0.195434	0.42420	N	0.000714	T	0.07369	0.0186	N	0.00155	-1.965	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	10	0.02654	T	1	.	5.4098	0.16342	0.6166:0.0:0.3834:0.0	.	2106	Q9NYC9	DYH9_HUMAN	K	2106;2106;688	ENSP00000262442:R2106K;ENSP00000414874:R2106K	ENSP00000262442:R2106K	R	+	2	0	DNAH9	11589044	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.581000	0.60949	0.664000	0.31047	0.650000	0.86243	AGG		PASS	0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		12	48	12	48	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11809111	11809111	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:11809111G>A	ENST00000262442.4	+	61	11802	c.11734G>A	c.(11734-11736)Gat>Aat	p.D3912N	DNAH9_ENST00000608377.1_Missense_Mutation_p.D224N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3912N|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3912	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D3912N(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)		CCCACTGAAGGATGTAGAAAG	0.498																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(11734-11736)GAT>AAT		dynein, axonemal, heavy chain 9 isoform 2							63.0	60.0	61.0					17																	11809111		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.chr17:11809111G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11734G>A	17.37:g.11809111G>A	ENSP00000262442:p.Asp3912Asn					DNAH9_uc010coo.2_Missense_Mutation_p.D3206N|DNAH9_uc002gnf.2_Missense_Mutation_p.D224N|DNAH9_uc010vvh.1_Missense_Mutation_p.D265N	p.D3912N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	61	11802	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3912			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11734G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062697	0.93898	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09073	3.02;3.02;3.02	4.81	4.81	0.61882	Dynein heavy chain (1);	0.243643	0.48286	D	0.000190	T	0.26122	0.0637	M	0.75264	2.295	0.80722	D	1	P;P	0.51057	0.732;0.941	P;P	0.58210	0.501;0.835	T	0.00478	-1.1715	10	0.42905	T	0.14	.	18.4172	0.90574	0.0:0.0:1.0:0.0	.	265;3912	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	N	3912;3912;2494;224;265	ENSP00000262442:D3912N;ENSP00000414874:D3912N;ENSP00000379323:D224N	ENSP00000262442:D3912N	D	+	1	0	DNAH9	11749836	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.601000	0.98297	2.665000	0.90641	0.655000	0.94253	GAT		PASS	0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	19	10	19	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12655844	12655844	+	Silent	SNP	G	G	A	rs150316964	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:12655844G>A	ENST00000343344.4	+	10	1239	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.P413P|AC005358.1_ENST00000609971.1_Silent_p.P317P			Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.001					uc002gnn.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1237-1239)CCG>CCA		myocardin isoform 2		G	,,	12,4394	19.1+/-41.9	0,12,2191	111.0	103.0	106.0		1239,951,1239	-7.7	0.3	17	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,	413/987,317/685,413/939	12655844	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655844G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1239G>A	17.37:g.12655844G>A						MYOCD_uc002gno.2_Silent_p.P413P|MYOCD_uc002gnp.1_Silent_p.P317P|MYOCD_uc002gnq.2_Silent_p.P132P	p.P413P	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1538	+			413					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1239G>A	CCDS11163.1																																																																																				PASS	0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		16	41	16	41	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656034	12656034	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:12656034G>A	ENST00000343344.4	+	10	1429	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.D477N|AC005358.1_ENST00000609971.1_Missense_Mutation_p.D381N			Q8IZQ8	MYCD_HUMAN	myocardin	477	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D477N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACCTTCAATGATGCCTCCCC	0.627																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1429-1431)GAT>AAT		myocardin isoform 2							68.0	65.0	66.0					17																	12656034		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656034G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1429G>A	17.37:g.12656034G>A	ENSP00000341835:p.Asp477Asn					MYOCD_uc002gno.2_Missense_Mutation_p.D477N|MYOCD_uc002gnp.1_Missense_Mutation_p.D381N|MYOCD_uc002gnq.2_Missense_Mutation_p.D196N	p.D477N	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1728	+			477			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1429G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609230	0.87258	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.48522	0.83;0.81	5.66	5.66	0.87406	.	0.045025	0.85682	D	0.000000	T	0.66896	0.2836	M	0.66939	2.045	0.58432	D	0.999993	D;D;D;D	0.67145	0.97;0.996;0.996;0.994	P;P;D;P	0.65684	0.697;0.9;0.937;0.867	T	0.65865	-0.6064	10	0.48119	T	0.1	-18.0284	18.5089	0.90909	0.0:0.0:1.0:0.0	.	196;381;477;477	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	N	196;477;477;381;182	ENSP00000341835:D477N;ENSP00000400148:D182N	ENSP00000341835:D477N	D	+	1	0	MYOCD	12596759	1.000000	0.71417	0.376000	0.26042	0.549000	0.35272	9.793000	0.99091	2.672000	0.90937	0.591000	0.81541	GAT		PASS	0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		19	35	19	35	---	---	---	---
HS3ST3A1	9955	broad.mit.edu	37	17	13399983	13399983	+	Missense_Mutation	SNP	G	G	A	rs371493674		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:13399983G>A	ENST00000284110.1	-	2	1549	c.752C>T	c.(751-753)tCg>tTg	p.S251L	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.S49L	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	251					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)	p.S251L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGTGTAGTCCGAGATGGCCCT	0.637																																						uc002gob.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(751-753)TCG>TTG		heparan sulfate D-glucosaminyl		G	LEU/SER	1,4381		0,1,2190	13.0	18.0	16.0		752	4.3	1.0	17		16	0,8532		0,0,4266	no	missense	HS3ST3A1	NM_006042.1	145	0,1,6456	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	251/407	13399983	1,12913	2191	4266	6457	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13399983G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.752C>T	17.37:g.13399983G>A	ENSP00000284110:p.Ser251Leu						p.S251L	NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1550	-		all_lung(20;0.114)	251			PAPS and substrate.|Lumenal (Potential).		A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.752C>T	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688854	0.88639	2.28E-4	0.0	ENSG00000153976	ENST00000284110	D	0.98280	-4.84	5.32	4.35	0.52113	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.99399	0.9788	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98185	1.0459	10	0.87932	D	0	.	14.1555	0.65415	0.0739:0.0:0.9261:0.0	.	251	Q9Y663	HS3SA_HUMAN	L	251	ENSP00000284110:S251L	ENSP00000284110:S251L	S	-	2	0	HS3ST3A1	13340708	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.861000	0.87004	1.561000	0.49584	0.563000	0.77884	TCG		PASS	0.637	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		5	25	5	25	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16024534	16024534	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:16024534C>T	ENST00000268712.3	-	16	1941	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E562K|NCOR1_ENST00000395848.1_Missense_Mutation_p.E453K|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	562					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.E562K(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)		TCTCTTTCCTCAGTTTCTTCT	0.488																																						uc002gpo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1684-1686)GAG>AAG		nuclear receptor co-repressor 1							98.0	96.0	97.0					17																	16024534		2203	4300	6503	SO:0001583	missense	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.chr17:16024534C>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.1684G>A	17.37:g.16024534C>T	ENSP00000268712:p.Glu562Lys					NCOR1_uc002gpn.2_Missense_Mutation_p.E562K|NCOR1_uc002gpp.1_Missense_Mutation_p.E453K|NCOR1_uc002gpr.2_Missense_Mutation_p.E453K	p.E562K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	16	1924	-			562					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.1684G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280360	0.95489	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.34859	1.34;1.34;1.34	5.8	5.8	0.92144	.	0.047912	0.85682	D	0.000000	T	0.56688	0.2002	L	0.56769	1.78	0.80722	D	1	P;D;D	0.64830	0.953;0.993;0.994	P;P;D	0.63488	0.551;0.708;0.915	T	0.52968	-0.8504	10	0.51188	T	0.08	-13.8009	19.0512	0.93046	0.0:1.0:0.0:0.0	.	453;562;562	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	K	562;562;453;453	ENSP00000268712:E562K;ENSP00000379192:E562K;ENSP00000379189:E453K	ENSP00000268712:E562K	E	-	1	0	NCOR1	15965259	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.629000	0.83207	2.735000	0.93741	0.655000	0.94253	GAG		PASS	0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		17	36	17	36	---	---	---	---
ZNF624	57547	broad.mit.edu	37	17	16537184	16537184	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:16537184G>A	ENST00000311331.7	-	5	459	c.368C>T	c.(367-369)cCc>cTc	p.P123L	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	123	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.P123L(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACCAGGATAGGGAATTCTTGA	0.403																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(367-369)CCC>CTC		zinc finger protein 624							91.0	81.0	85.0					17																	16537184		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16537184G>A	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.368C>T	17.37:g.16537184G>A	ENSP00000310472:p.Pro123Leu						p.P123L	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	451	-			123			KRAB.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.368C>T	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	G	6.761	0.509229	0.12883	.	.	ENSG00000197566	ENST00000311331	T	0.05081	3.5	3.58	0.871	0.19107	Krueppel-associated box (1);	.	.	.	.	T	0.06735	0.0172	L	0.57536	1.79	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.39461	-0.9613	9	0.25751	T	0.34	.	5.8555	0.18716	0.0:0.189:0.4746:0.3364	.	123	Q9P2J8	ZN624_HUMAN	L	123	ENSP00000310472:P123L	ENSP00000310472:P123L	P	-	2	0	ZNF624	16477909	0.001000	0.12720	0.000000	0.03702	0.204000	0.24138	0.544000	0.23253	0.091000	0.17302	0.591000	0.81541	CCC		PASS	0.403	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		3	21	3	21	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18194300	18194300	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:18194300G>A	ENST00000321105.5	-	12	1537	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.F346F	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	441					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.F441F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAAGCCAGGAAATGGCGAA	0.537																																						uc002gsx.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(1321-1323)TTC>TTT		topoisomerase (DNA) III alpha							101.0	98.0	99.0					17																	18194300		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18194300G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1323C>T	17.37:g.18194300G>A						TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.F339F	p.F441F	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			12	1552	-			441					A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.1323C>T	CCDS11194.1																																																																																				PASS	0.537	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			14	41	14	41	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219614	18219614	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:18219614G>A	ENST00000406438.3	+	1	991	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	171						nucleus (GO:0005634)		p.E171K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGTTCCAGGAGCTTTCAGC	0.488																																						uc002gsy.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(511-513)GAG>AAG		Smith-Magenis syndrome chromosome region,							52.0	56.0	54.0					17																	18219614		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219614G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.511G>A	17.37:g.18219614G>A	ENSP00000385025:p.Glu171Lys						p.E171K	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	1021	+			171					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.511G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334848	0.81801	.	.	ENSG00000176994	ENST00000406438	D	0.87966	-2.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88451	0.3049	10	0.33940	T	0.23	-47.2904	20.5568	0.99304	0.0:0.0:1.0:0.0	.	171	Q8TEV9	SMCR8_HUMAN	K	171	ENSP00000385025:E171K	ENSP00000385025:E171K	E	+	1	0	SMCR8	18160339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.488	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		13	38	13	38	---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18257060	18257060	+	Silent	SNP	G	G	A	rs150099862		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:18257060G>A	ENST00000316694.3	-	3	302	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SHMT1_ENST00000352886.6_Silent_p.F56F|SHMT1_ENST00000539052.1_5'UTR|SHMT1_ENST00000354098.3_Silent_p.F56F	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	56					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.F56F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CTCGGCTGGCGAAATTCTCCG	0.468																																						uc002gta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(166-168)TTC>TTT		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	G	,	0,4406		0,0,2203	97.0	106.0	103.0		168,168	-6.4	0.8	17	dbSNP_134	103	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SHMT1	NM_004169.3,NM_148918.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	56/484,56/445	18257060	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18257060G>A		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.168C>T	17.37:g.18257060G>A						SHMT1_uc002gtb.2_Silent_p.F56F|SHMT1_uc010cqb.2_Silent_p.F56F|SHMT1_uc010vxt.1_5'UTR|SHMT1_uc002gtd.1_Silent_p.F56F|SHMT1_uc010vxu.1_Silent_p.F56F	p.F56F	NM_004169	NP_004160	P34896	GLYC_HUMAN			3	358	-			56					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.168C>T	CCDS11196.1																																																																																				PASS	0.468	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		59	55	59	55	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18647829	18647829	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:18647829G>A	ENST00000395665.4	+	1	493	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	FBXW10_ENST00000395667.1_Missense_Mutation_p.R91Q|FBXW10_ENST00000301938.4_Missense_Mutation_p.R91Q|FBXW10_ENST00000308799.4_Missense_Mutation_p.R91Q			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	91								p.R91Q(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AACAGGTCCCGGATCAACCTC	0.393																																						uc002guk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)CGG>CAG		F-box and WD-40 domain protein 10							122.0	124.0	123.0					17																	18647829		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18647829G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.272G>A	17.37:g.18647829G>A	ENSP00000379025:p.Arg91Gln					FBXW10_uc002guj.2_Missense_Mutation_p.R91Q|FBXW10_uc002gul.2_Missense_Mutation_p.R91Q|FBXW10_uc010cqh.1_Missense_Mutation_p.R91Q	p.R91Q	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			1	504	+			91					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.272G>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	g	9.564	1.119355	0.20877	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	3.31	3.31	0.37934	.	0.368026	0.24158	U	0.041006	T	0.34483	0.0899	L	0.46157	1.445	0.34700	D	0.726658	D;D;D;D	0.61697	0.99;0.99;0.983;0.971	P;P;B;B	0.50352	0.544;0.638;0.342;0.356	T	0.50516	-0.8819	10	0.41790	T	0.15	.	12.1683	0.54144	0.0:0.0:1.0:0.0	.	91;91;91;91	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	Q	91	ENSP00000379026:R91Q;ENSP00000310382:R91Q;ENSP00000306937:R91Q;ENSP00000379025:R91Q	ENSP00000306937:R91Q	R	+	2	0	FBXW10	18588554	0.285000	0.24296	0.526000	0.27913	0.580000	0.36256	1.578000	0.36525	1.667000	0.50832	0.405000	0.27470	CGG		PASS	0.393	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		25	94	25	94	---	---	---	---
SLC47A1	55244	broad.mit.edu	37	17	19452969	19452969	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:19452969G>A	ENST00000270570.4	+	5	563	c.477G>A	c.(475-477)acG>acA	p.T159T	SLC47A1_ENST00000571335.1_Missense_Mutation_p.R11Q|SLC47A1_ENST00000395585.1_Silent_p.T159T|SLC47A1_ENST00000542886.1_Silent_p.T159T|SLC47A1_ENST00000457293.1_Silent_p.T159T|SLC47A1_ENST00000436810.2_Silent_p.T136T|SLC47A1_ENST00000575023.1_Silent_p.T159T|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	159					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.T159T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CCTATGTCACGATCTTCATTC	0.448																																						uc002gvy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)ACG>ACA		solute carrier family 47, member 1							196.0	173.0	181.0					17																	19452969		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19452969G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.477G>A	17.37:g.19452969G>A						SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.T159T|SLC47A1_uc010vyz.1_Silent_p.T136T|SLC47A1_uc010cqp.1_Silent_p.T159T|SLC47A1_uc010cqq.1_Missense_Mutation_p.R11Q	p.T159T	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			5	563	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		159			Helical; (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.477G>A	CCDS11209.1																																																																																				PASS	0.448	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		15	71	15	71	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19698953	19698953	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:19698953C>T	ENST00000395544.4	-	20	2582	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	ULK2_ENST00000361658.2_Missense_Mutation_p.E695K|ULK2_ENST00000580130.1_5'Flank	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	695					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E695K(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATTGGTCGTTCTGTATTTAAA	0.368																																						uc002gwm.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|stomach(1)	4						c.(2083-2085)GAA>AAA		unc-51-like kinase 2							231.0	227.0	228.0					17																	19698953		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19698953C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2083G>A	17.37:g.19698953C>T	ENSP00000378914:p.Glu695Lys					ULK2_uc002gwn.2_Missense_Mutation_p.E695K	p.E695K	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			20	2592	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		695					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2083G>A	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287575	0.95517	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.45668	0.89;0.89	5.66	5.66	0.87406	.	0.047074	0.85682	N	0.000000	T	0.67449	0.2894	M	0.77820	2.39	0.53688	D	0.999971	D	0.71674	0.998	D	0.75484	0.986	T	0.69680	-0.5080	10	0.66056	D	0.02	-21.0202	18.7488	0.91806	0.0:1.0:0.0:0.0	.	695	Q8IYT8	ULK2_HUMAN	K	695	ENSP00000354877:E695K;ENSP00000378914:E695K	ENSP00000354877:E695K	E	-	1	0	ULK2	19639545	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.205000	0.77881	2.685000	0.91497	0.655000	0.94253	GAA		PASS	0.368	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		7	96	7	96	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21208395	21208395	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:21208395G>A	ENST00000342679.4	+	9	978	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MAP2K3_ENST00000316920.6_Silent_p.K214K|MAP2K3_ENST00000361818.5_Silent_p.K214K	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.K247K(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGAACCAGAAGGGCTACAATG	0.642																																						uc002gys.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)AAG>AAA		mitogen-activated protein kinase kinase 3							180.0	154.0	163.0					17																	21208395		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21208395G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.729G>A	17.37:g.21208395G>A						MAP2K3_uc002gyt.2_Silent_p.K214K|MAP2K3_uc002gyu.2_Silent_p.K214K	p.K243K	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	9	994	+			243			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.729G>A	CCDS11217.1																																																																																				PASS	0.642	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		22	156	22	156	---	---	---	---
MAP2K3	5606	broad.mit.edu	37	17	21217475	21217476	+	Missense_Mutation	DNP	CC	CC	TT	rs116715468	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:21217475_21217476CC>TT	ENST00000342679.4	+	12	1226_1227	c.977_978CC>TT	c.(976-978)aCC>aTT	p.T326I	MAP2K3_ENST00000316920.6_Missense_Mutation_p.T297I|MAP2K3_ENST00000361818.5_Missense_Mutation_p.T297I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	326					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.T330I(2)|p.T330T(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTTCTTCACCTTGCACAAAA	0.614																																						uc002gys.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(976-978)ACC>ATC|c.(976-978)ACC>ACT		mitogen-activated protein kinase kinase 3																																				SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21217475C>T|g.chr17:21217476C>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	Exception_encountered	17.37:g.21217475_21217476delinsTT	ENSP00000345083:p.Thr326Ile					MAP2K3_uc002gyt.2_Missense_Mutation_p.T297I|MAP2K3_uc002gyu.2_Missense_Mutation_p.T297I|MAP2K3_uc002gyt.2_Silent_p.T297T|MAP2K3_uc002gyu.2_Silent_p.T297T	p.T326I|p.T326T	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	12	1242|1243	+			326					B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation|Silent	SNP	ENST00000342679.4	37	c.977C>T|c.978C>T	CCDS11217.1																																																																																				PASS	0.614	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		45|43	332|337	43	332	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26107882	26107882	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:26107882G>A	ENST00000313735.6	-	9	1148	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	305					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.V305V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGACCAGGGGGACCACATCGA	0.607																																						uc002gzu.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(913-915)GTC>GTT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						67.0	60.0	62.0					17																	26107882		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26107882G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.915C>T	17.37:g.26107882G>A						NOS2_uc010crh.1_Silent_p.V305V|NOS2_uc010wab.1_Silent_p.V305V	p.V305V	NM_000625	NP_000616	P35228	NOS2_HUMAN			9	1179	-			305					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.915C>T	CCDS11223.1																																																																																				PASS	0.607	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	23	5	23	---	---	---	---
SLC46A1	113235	broad.mit.edu	37	17	26731817	26731818	+	Nonsense_Mutation	DNP	CC	CC	TT	rs201540617		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:26731817_26731818CC>TT	ENST00000440501.1	-	2	992_993	c.897_898GG>AA	c.(895-900)tgGGac>tgAAac	p.299_300WD>*N	SLC46A1_ENST00000321666.5_Nonsense_Mutation_p.299_300WD>*N|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	299					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)	p.W299_D300>*(1)|p.D300N(1)|p.W299*(1)		lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AGTTTGGAGTCCCAGCAGAGGG	0.554																																						uc002hbf.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)		lung(3)		0						c.(898-900)GAC>AAC|c.(895-897)TGG>TGA		proton-coupled folate transporter	Folic Acid(DB00158)																																			SO:0001587	stop_gained	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731817C>T|g.chr17:26731818C>T	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.897_898delinsTT	17.37:g.26731817_26731818delinsTT	ENSP00000395653:p.W299_D300delins*N					SLC46A1_uc002hbg.1_Missense_Mutation_p.D300N|SLC46A1_uc010wak.1_Missense_Mutation_p.D300N|SLC46A1_uc002hbg.1_Nonsense_Mutation_p.W299*|SLC46A1_uc010wak.1_Nonsense_Mutation_p.W299*	p.D300N|p.W299*	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	994|993	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		300|299					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000440501.1	37	c.898G>A|c.897G>A																																																																																					PASS	0.554	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		20	39	20	39	---	---	---	---
ALDOC	230	broad.mit.edu	37	17	26902293	26902293	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:26902293G>A	ENST00000226253.4	-	3	647	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.L58L|ALDOC_ENST00000395321.2_Silent_p.L58L	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	58					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.L58L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGGCGGTACAGCCGGCGGTTC	0.537											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hbp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)CTG>TTG		fructose-bisphosphate aldolase C							87.0	85.0	86.0					17																	26902293		2203	4300	6503	SO:0001819	synonymous_variant	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902293G>A	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.172C>T	17.37:g.26902293G>A			OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_uc010cro.2_Silent_p.L58L	p.L58L	NM_005165	NP_005156	P09972	ALDOC_HUMAN			3	317	-	Lung NSC(42;0.00431)		58					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	ENST00000226253.4	37	c.172C>T	CCDS11236.1																																																																																				PASS	0.537	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			19	25	19	25	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27016513	27016513	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:27016513C>T	ENST00000314616.6	+	25	3559	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	SUPT6H_ENST00000347486.4_Silent_p.I1092I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1092	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1092I(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGAAGAAATCTTGGAAAACC	0.542																																						uc002hby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3274-3276)ATC>ATT		suppressor of Ty 6 homolog							77.0	74.0	75.0					17																	27016513		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27016513C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3276C>T	17.37:g.27016513C>T						SUPT6H_uc010crt.2_Silent_p.I1092I|SUPT6H_uc002hbz.1_Silent_p.I24I	p.I1092I	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			25	3366	+	Lung NSC(42;0.00431)		1092					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.3276C>T	CCDS32596.1																																																																																				PASS	0.542	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		18	19	18	19	---	---	---	---
SEZ6	124925	broad.mit.edu	37	17	27291092	27291092	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:27291092C>T	ENST00000317338.12	-	5	1556	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	SEZ6_ENST00000442608.3_Silent_p.G376G|SEZ6_ENST00000360295.9_Silent_p.G376G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.G376G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	376	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.G376G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGGCACTACCCCCTGGGTGGA	0.587																																						uc002hdp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1126-1128)GGG>GGA		seizure related 6 homolog isoform 1							36.0	38.0	37.0					17																	27291092		2006	4167	6173	SO:0001819	synonymous_variant	124925					integral to membrane|plasma membrane		g.chr17:27291092C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1128G>A	17.37:g.27291092C>T						SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.G376G|SEZ6_uc002hdq.1_Silent_p.G251G|SEZ6_uc010crz.1_Silent_p.G376G	p.G376G	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		5	1322	-	Lung NSC(42;0.0137)		376			Sushi 1.|Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	c.1128G>A	CCDS45639.1																																																																																				PASS	0.587	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			6	7	6	7	---	---	---	---
PIPOX	51268	broad.mit.edu	37	17	27371896	27371896	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:27371896G>A	ENST00000323372.4	+	2	460	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	45					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)	p.R45Q(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CCACACTCCCGAGGAAGCTCC	0.502																																						uc002hdr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)CGA>CAA		pipecolic acid oxidase	Glycine(DB00145)						116.0	100.0	106.0					17																	27371896		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27371896G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.134G>A	17.37:g.27371896G>A	ENSP00000317721:p.Arg45Gln						p.R45Q	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	460	+	Lung NSC(42;0.015)		45					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.134G>A	CCDS11248.1	.	.	.	.	.	.	.	.	.	.	G	36	5.714278	0.96830	.	.	ENSG00000179761	ENST00000323372	D	0.85484	-1.99	5.8	5.8	0.92144	FAD dependent oxidoreductase (1);	0.059720	0.64402	D	0.000005	D	0.91945	0.7449	M	0.75447	2.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90563	0.4517	10	0.37606	T	0.19	-1.8034	17.5371	0.87835	0.0:0.0:1.0:0.0	.	45	Q9P0Z9	SOX_HUMAN	Q	45	ENSP00000317721:R45Q	ENSP00000317721:R45Q	R	+	2	0	PIPOX	24396022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.632000	0.90995	2.740000	0.93945	0.650000	0.86243	CGA		PASS	0.502	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		18	39	18	39	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27822697	27822698	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:27822697_27822698CC>TT	ENST00000261716.3	+	11	1470_1471	c.951_952CC>TT	c.(949-954)ttCCag>ttTTag	p.Q318*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.Q318*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	318					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.F317F(4)|p.Q318*(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AACTCCTTTTCCAGGAGGCACA	0.406																																						uc002hdz.1																			8	Substitution - Nonsense(4)|Substitution - coding silent(4)		lung(6)|skin(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(949-951)TTC>TTT|c.(952-954)CAG>TAG		TAO kinase 1																																				SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27822697C>T|g.chr17:27822698C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		Exception_encountered	17.37:g.27822697_27822698delinsTT	ENSP00000261716:p.Gln318*					TAOK1_uc010wbe.1_Silent_p.F317F|TAOK1_uc010wbf.1_Silent_p.F317F|TAOK1_uc002heb.1_Silent_p.F143F|TAOK1_uc010wbe.1_Nonsense_Mutation_p.Q318*|TAOK1_uc010wbf.1_Nonsense_Mutation_p.Q318*|TAOK1_uc002heb.1_Nonsense_Mutation_p.Q144*	p.F317F|p.Q318*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		11	1145|1146	+			317|318					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent|Nonsense_Mutation	SNP	ENST00000261716.3	37	c.951C>T|c.952C>T	CCDS32601.1																																																																																				PASS	0.406	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		23|24	30|29	23	29	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29483114	29483114	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:29483114C>T	ENST00000358273.4	+	2	557	c.174C>T	c.(172-174)ctC>ctT	p.L58L	NF1_ENST00000431387.4_Silent_p.L58L|NF1_ENST00000356175.3_Silent_p.L58L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	58					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.L58L(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAAGCGGCCTCACTACTATTT	0.338			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(2)	p.0?(5)|p.?(3)	soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CD072451	NF1	D		c.(172-174)CTC>CTT		neurofibromin isoform 1							106.0	102.0	103.0					17																	29483114		2203	4299	6502	SO:0001819	synonymous_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29483114C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.174C>T	17.37:g.29483114C>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.1_Silent_p.L58L|NF1_uc002hgf.1_Silent_p.L58L|NF1_uc002hgh.2_Silent_p.L58L|NF1_uc010csn.1_5'UTR	p.L58L	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	2	507	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	58					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.174C>T	CCDS42292.1																																																																																				PASS	0.338	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		10	35	10	35	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30678826	30678826	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:30678826T>G	ENST00000321233.6	+	2	217	c.63T>G	c.(61-63)gaT>gaG	p.D21E	ZNF207_ENST00000342555.6_Missense_Mutation_p.D24E|ZNF207_ENST00000341711.6_Missense_Mutation_p.D21E|ZNF207_ENST00000577908.1_Missense_Mutation_p.D21E|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.D21E|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.D21E	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	21	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D21E(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGATTTTGATGATGAGAAGA	0.333																																						uc002hhh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GAT>GAG		zinc finger protein 207 isoform a							101.0	97.0	99.0					17																	30678826		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30678826T>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.63T>G	17.37:g.30678826T>G	ENSP00000322777:p.Asp21Glu					ZNF207_uc002hhj.3_Missense_Mutation_p.D21E|ZNF207_uc002hhi.3_Missense_Mutation_p.D21E|ZNF207_uc010csz.2_Missense_Mutation_p.D24E|ZNF207_uc002hhk.1_Missense_Mutation_p.D21E	p.D21E	NM_003457	NP_003448	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	211	+		Breast(31;0.116)|Ovarian(249;0.182)	21			C2H2-type 1.		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.63T>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.998069	0.54147	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	L	0.39085	1.19	0.40039	D	0.975629	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.99	D;D;D;D;D	0.72625	0.978;0.978;0.978;0.978;0.978	T	0.62918	-0.6752	10	0.25751	T	0.34	.	14.9126	0.70770	0.0:0.0:0.0:1.0	.	21;24;21;21;21	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	E	21;21;24;21;21;21	ENSP00000378165:D21E;ENSP00000378168:D21E;ENSP00000322777:D21E;ENSP00000344913:D21E	ENSP00000322777:D21E	D	+	3	2	ZNF207	27702939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.268000	0.43338	1.991000	0.58162	0.533000	0.62120	GAT		PASS	0.333	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			3	24	3	24	---	---	---	---
SPACA3	124912	broad.mit.edu	37	17	31324761	31324761	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:31324761G>A	ENST00000269053.3	+	5	683	c.613G>A	c.(613-615)Gac>Aac	p.D205N	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.D102N|SPACA3_ENST00000580599.1_Missense_Mutation_p.D136N	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	205					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.D205Y(1)|p.D205N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCAGGGAAAAGACCTCACTGA	0.547																																						uc002hhs.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(613-615)GAC>AAC		sperm acrosome associated 3							140.0	126.0	131.0					17																	31324761		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31324761G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.613G>A	17.37:g.31324761G>A	ENSP00000269053:p.Asp205Asn					SPACA3_uc010cte.1_RNA	p.D205N	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		5	688	+			205			Extracellular (Potential).		Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.613G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557057	0.45590	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.74947	-0.89;-0.89	4.39	4.39	0.52855	Lysozyme-like domain (1);	0.143175	0.45361	D	0.000371	T	0.67050	0.2852	L	0.41710	1.295	0.36478	D	0.867688	B	0.29955	0.263	B	0.32393	0.145	T	0.74396	-0.3679	10	0.66056	D	0.02	-7.3967	12.6978	0.57014	0.0:0.0:1.0:0.0	.	205	Q8IXA5	SACA3_HUMAN	N	205;102;206;113	ENSP00000269053:D205N;ENSP00000378134:D102N	ENSP00000269053:D205N	D	+	1	0	SPACA3	28348874	0.991000	0.36638	1.000000	0.80357	0.655000	0.38815	2.942000	0.49018	1.975000	0.57531	0.459000	0.35465	GAC		PASS	0.547	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		4	43	4	43	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31355373	31355373	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:31355373G>A	ENST00000359872.6	-	4	1633	c.872C>T	c.(871-873)tCc>tTc	p.S291F	ASIC2_ENST00000225823.2_Missense_Mutation_p.S342F|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	291					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.S342F(1)|p.S291F(1)								Amiloride(DB00594)	CATCTCTGAGGATCGGCACTC	0.542																																						uc002hhu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(871-873)TCC>TTC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						55.0	54.0	54.0					17																	31355373		2203	4300	6503	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31355373G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.872C>T	17.37:g.31355373G>A	ENSP00000352934:p.Ser291Phe					ACCN1_uc002hht.2_Missense_Mutation_p.S342F	p.S291F	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	4	1146	-		Breast(31;0.042)|Ovarian(249;0.202)	291			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.872C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567740	0.65651	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.62788	0.0;0.0	5.56	5.56	0.83823	.	0.292920	0.39083	N	0.001476	T	0.60766	0.2294	L	0.60067	1.865	0.43471	D	0.99568	B;B	0.24721	0.097;0.11	B;B	0.33254	0.16;0.159	T	0.61108	-0.7129	10	0.51188	T	0.08	-17.6516	10.4618	0.44583	0.0881:0.0:0.9119:0.0	.	291;342	Q16515;E9PBX2	ACCN1_HUMAN;.	F	342;291;97	ENSP00000225823:S342F;ENSP00000352934:S291F	ENSP00000225823:S342F	S	-	2	0	ACCN1	28379486	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.582000	0.67477	2.112000	0.64535	0.482000	0.46254	TCC		PASS	0.542	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		18	22	18	22	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	32483157	32483157	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:32483157G>A	ENST00000359872.6	-	1	1156	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	132					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.S132F(1)								Amiloride(DB00594)	CTCCAGCACGGAGGGGTCAGC	0.607																																						uc002hhu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(394-396)TCC>TTC		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						84.0	94.0	90.0					17																	32483157		2149	4253	6402	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483157G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.395C>T	17.37:g.32483157G>A	ENSP00000352934:p.Ser132Phe						p.S132F	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	669	-		Breast(31;0.042)|Ovarian(249;0.202)	132			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.395C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	0.715	-0.785857	0.02907	.	.	ENSG00000108684	ENST00000359872	T	0.64803	-0.12	4.96	-0.718	0.11205	.	.	.	.	.	T	0.41766	0.1173	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30060	-0.9991	9	0.59425	D	0.04	.	3.2119	0.06685	0.3588:0.0:0.3462:0.2949	.	132	Q16515	ACCN1_HUMAN	F	132	ENSP00000352934:S132F	ENSP00000352934:S132F	S	-	2	0	ACCN1	29507270	0.010000	0.17322	0.023000	0.16930	0.096000	0.18686	1.857000	0.39399	-0.234000	0.09782	-0.169000	0.13324	TCC		PASS	0.607	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		13	40	13	40	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33521009	33521009	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:33521009G>A	ENST00000297307.5	-	1	403	c.318C>T	c.(316-318)ttC>ttT	p.F106F	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	106	EamA 1.					integral component of membrane (GO:0016021)		p.F106F(1)									GCAGGGCACAGAAGAAGGCCC	0.587																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)TTC>TTT		acyl-malonyl condensing enzyme 1							133.0	137.0	136.0					17																	33521009		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521009G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.318C>T	17.37:g.33521009G>A							p.F106F	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	404	-			106			DUF6 1.|Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.318C>T	CCDS11293.1																																																																																				PASS	0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		34	91	34	91	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34095373	34095373	+	IGR	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:34095373G>A								C17orf50 (3275 upstream) : MMP28 (10135 downstream)														p.A291A(1)									GGAGCTGGACGGCCACTGAGC	0.552																																						uc002hjy.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(874-876)GCC>GCT		matrix metalloproteinase 28 isoform 1							51.0	54.0	53.0					17																	34095373		1861	4096	5957	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34095373G>A																													17.37:g.34095373G>A						MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.A292A	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1135	-		Ovarian(249;0.17)	292						Silent	SNP		37	c.876C>T																																																																																				0	PASS	0.552									12	22	12	22	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34105923	34105923	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:34105923T>G	ENST00000250144.8	-	3	677	c.348A>C	c.(346-348)aaA>aaC	p.K116N		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	116					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K116N(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Marimastat(DB00786)	TACGCCTCATTTTGGTCCGGT	0.512																																						uc002hjy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)AAA>AAC		matrix metalloproteinase 28 isoform 1							109.0	113.0	111.0					17																	34105923		2066	4205	6271	SO:0001583	missense	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34105923T>G	AF315683	CCDS45651.1, CCDS74036.1	17q12	2014-08-12	2005-08-08		ENSG00000271447	ENSG00000271447			14366	protein-coding gene	gene with protein product		608417	"""matrix metalloproteinase 28"""			11121398, 11255011	Standard	NM_024302		Approved	MMP-25, MM28, EPILYSIN, MMP-28	uc002hjy.1	Q9H239	OTTHUMG00000188387	ENST00000250144.8:c.348A>C	17.37:g.34105923T>G	ENSP00000250144:p.Lys116Asn					MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.K116N	p.K116N	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	607	-		Ovarian(249;0.17)	116					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000250144.8	37	c.348A>C	CCDS45651.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711657	0.48517	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.65549	-0.16	4.84	3.72	0.42706	Metallopeptidase, catalytic domain (1);	3.245180	0.01003	N	0.003717	T	0.58524	0.2128	.	.	.	0.21064	N	0.999794	P;P	0.48230	0.493;0.907	B;B	0.44224	0.155;0.444	T	0.51505	-0.8697	9	0.54805	T	0.06	.	5.7467	0.18124	0.0:0.1217:0.0:0.8783	.	116;116	Q9H239-2;Q9H239	.;MMP28_HUMAN	N	116	ENSP00000250144:K116N	ENSP00000250144:K116N	K	-	3	2	MMP28	31130036	0.683000	0.27633	0.994000	0.49952	0.911000	0.54048	0.377000	0.20552	2.033000	0.60031	0.533000	0.62120	AAA		PASS	0.512	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449269.1	NM_024302		31	35	31	35	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34190509	34190509	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:34190509G>A	ENST00000311880.2	-	7	770	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Silent_p.L168L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		208					hematopoietic progenitor cell differentiation (GO:0002244)			p.L208L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TACTCACCCAGGATGGCCAGG	0.493																																						uc002hke.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(622-624)CTG>TTG		hypothetical protein LOC256957							135.0	119.0	125.0					17																	34190509		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34190509G>A																												ENST00000311880.2:c.622C>T	17.37:g.34190509G>A						C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.L168L|C17orf66_uc010wcm.1_Silent_p.L174L	p.L208L	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	7	771	-		Ovarian(249;0.17)	208					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.622C>T	CCDS11299.1																																																																																				PASS	0.493	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			11	23	11	23	---	---	---	---
TBC1D3F	84218	broad.mit.edu	37	17	36288238	36288238	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:36288238C>A	ENST00000327454.6	+	6	470	c.324C>A	c.(322-324)ggC>ggA	p.G108G	TBC1D3F_ENST00000505415.1_Silent_p.G108G|TBC1D3F_ENST00000539424.1_Silent_p.G28G|TBC1D3F_ENST00000378174.5_Silent_p.G108G	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	108	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.G108G(1)		liver(1)|pancreas(1)	2						ACATCCGGGGCCCGATGTGGT	0.562																																						uc002hoo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)GGC>GGA		TBC1 domain family, member 3F							237.0	157.0	182.0					17																	36288238		876	1983	2859	SO:0001819	synonymous_variant	729873					intracellular	Rab GTPase activator activity	g.chr17:36288238C>A			17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.324C>A	17.37:g.36288238C>A						TBC1D3_uc002hop.2_RNA|TBC1D3_uc010wdj.1_Silent_p.G28G|TBC1D3_uc010cvf.1_Silent_p.G108G|TBC1D3_uc002hoq.2_Silent_p.G108G|TBC1D3_uc010wdk.1_Silent_p.G169G|uc002hpl.2_5'Flank|uc002hor.2_5'Flank	p.G108G	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	481	+	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)	108			Rab-GAP TBC.			Silent	SNP	ENST00000327454.6	37	c.324C>A	CCDS45657.1																																																																																				PASS	0.562	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256100.3	NM_032258.2		43	189	43	189	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36484158	36484158	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:36484158C>T	ENST00000342292.4	-	11	5314	c.5294G>A	c.(5293-5295)gGg>gAg	p.G1765E	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1765					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1765E(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCCACACTCCCCCAGGGACA	0.577																																						uc002hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5293-5295)GGG>GAG		GPR158-like 1 precursor							45.0	47.0	46.0					17																	36484158		1911	4122	6033	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484158C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5294G>A	17.37:g.36484158C>T	ENSP00000345060:p.Gly1765Glu						p.G1765E	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5315	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1765			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.5294G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	0.329	-0.957471	0.02267	.	.	ENSG00000188888	ENST00000342292	T	0.38887	1.11	4.84	-0.0902	0.13666	.	1.308430	0.05452	N	0.549655	T	0.11324	0.0276	N	0.01009	-1.055	0.20403	N	0.999904	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	10	0.02654	T	1	-0.6332	0.9894	0.01453	0.1535:0.1803:0.1592:0.507	.	1765	Q6PRD1	GP179_HUMAN	E	1765	ENSP00000345060:G1765E	ENSP00000345060:G1765E	G	-	2	0	GPR179	33737684	0.128000	0.22383	0.048000	0.18961	0.143000	0.21401	0.241000	0.18065	-0.233000	0.09797	-0.302000	0.09304	GGG		PASS	0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			6	28	6	28	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687305	37687305	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:37687305C>T	ENST00000447079.4	+	14	4242	c.4209C>T	c.(4207-4209)ctC>ctT	p.L1403L	CDK12_ENST00000430627.2_Silent_p.L1394L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1403					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L1403L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACCAGGACCTCCGTTTTGCCA	0.572			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												uc010cvv.2				Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					1	Substitution - coding silent(1)		lung(1)	ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(4207-4209)CTC>CTT		Cdc2-related kinase, arginine/serine-rich							74.0	76.0	75.0					17																	37687305		2203	4300	6503	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687305C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4209C>T	17.37:g.37687305C>T		TCGA Ovarian(9;0.13)				CDK12_uc002hrw.3_Silent_p.L1394L	p.L1403L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			14	4795	+			1403					A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.4209C>T	CCDS11337.1																																																																																				PASS	0.572	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		16	28	16	28	---	---	---	---
MSL1	339287	broad.mit.edu	37	17	38285676	38285676	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:38285676C>T	ENST00000398532.4	+	3	1486	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	MSL1_ENST00000578648.1_Missense_Mutation_p.R391W|MSL1_ENST00000577454.1_Missense_Mutation_p.R391W|MSL1_ENST00000579565.1_Missense_Mutation_p.R128W	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	391					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R190W(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AGAAAAGCCCCGGTCTTCAGT	0.493																																						uc002hub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)CGG>TGG		hampin							53.0	55.0	55.0					17																	38285676		1829	4092	5921	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38285676C>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1171C>T	17.37:g.38285676C>T	ENSP00000381543:p.Arg391Trp					MSL1_uc002hua.3_Missense_Mutation_p.R128W|MSL1_uc002huc.2_Missense_Mutation_p.R128W|MSL1_uc002hud.2_5'Flank	p.R190W	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN			3	587	+			391					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.568C>T		.	.	.	.	.	.	.	.	.	.	C	13.24	2.178645	0.38511	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	6.04	5.06	0.68205	.	0.341339	0.28338	N	0.015716	T	0.33294	0.0858	N	0.22421	0.69	0.36605	D	0.874863	P	0.51653	0.947	B	0.36959	0.237	T	0.39231	-0.9624	9	0.37606	T	0.19	-7.3444	16.9048	0.86123	0.0:0.8717:0.1282:0.0	.	391	Q68DK7	MSL1_HUMAN	W	128;391	.	ENSP00000341409:R128W	R	+	1	2	MSL1	35539202	0.873000	0.30073	1.000000	0.80357	0.998000	0.95712	0.526000	0.22971	1.519000	0.48950	0.563000	0.77884	CGG		PASS	0.493	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		21	56	21	56	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38348886	38348886	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:38348886G>A	ENST00000456989.2	+	12	1278	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R356Q|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R405Q|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R356Q			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	562					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R356Q(1)|p.R356L(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AAAAGCTACCGAGAAGTGATC	0.532																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1066-1068)CGA>CAA		Rap guanine nucleotide exchange factor							268.0	269.0	269.0					17																	38348886		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38348886G>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1232G>A	17.37:g.38348886G>A	ENSP00000394530:p.Arg411Gln					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R292Q	p.R356Q	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			12	1557	+			562			Ras-GEF.			Missense_Mutation	SNP	ENST00000456989.2	37	c.1067G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.690794	0.96793	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.64618	-0.11;-0.11;-0.11	5.36	5.36	0.76844	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000006	T	0.81336	0.4801	M	0.90252	3.1	0.80722	D	1	D;P	0.60160	0.987;0.947	P;B	0.59889	0.865;0.318	D	0.85611	0.1258	10	0.87932	D	0	.	17.8385	0.88707	0.0:0.0:1.0:0.0	.	292;562	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	Q	411;405;356;561;356	ENSP00000394530:R411Q;ENSP00000438631:R405Q;ENSP00000408322:R356Q	ENSP00000264644:R561Q	R	+	2	0	RAPGEFL1	35602412	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.366000	0.79548	2.521000	0.84997	0.491000	0.48974	CGA		PASS	0.532	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		106	179	106	179	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421050	38421050	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:38421050C>T	ENST00000323571.4	+	5	862	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	WIPF2_ENST00000585043.1_Missense_Mutation_p.P208S|WIPF2_ENST00000583130.1_Missense_Mutation_p.P208S|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	208					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.P208S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGAGAGAAACCCTTGCCACC	0.637										HNSCC(43;0.11)																												uc002hug.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(622-624)CCC>TCC		WIRE protein							97.0	90.0	93.0					17																	38421050		2203	4300	6503	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421050C>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.622C>T	17.37:g.38421050C>T	ENSP00000320924:p.Pro208Ser	HNSCC(43;0.11)				WIPF2_uc002huh.1_Missense_Mutation_p.P58S|WIPF2_uc010cww.1_Missense_Mutation_p.P58S|WIPF2_uc002hui.1_Missense_Mutation_p.P208S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P208S	p.P208S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			5	862	+			208					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.622C>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719796	0.89205	.	.	ENSG00000171475	ENST00000323571	T	0.37058	1.22	5.69	5.69	0.88448	.	0.110840	0.64402	D	0.000006	T	0.61887	0.2383	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.57039	-0.7879	10	0.33940	T	0.23	-7.8428	19.4683	0.94952	0.0:1.0:0.0:0.0	.	208	Q8TF74	WIPF2_HUMAN	S	208	ENSP00000320924:P208S	ENSP00000320924:P208S	P	+	1	0	WIPF2	35674576	1.000000	0.71417	0.947000	0.38551	0.957000	0.61999	4.896000	0.63222	2.698000	0.92095	0.456000	0.33151	CCC		PASS	0.637	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		23	37	23	37	---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39092725	39092725	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:39092725G>A	ENST00000209718.3	-	2	555	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	44	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S44F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGGACAGGGAGATGCGGGC	0.701																																						uc002hvm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)TCC>TTC		keratin 23							38.0	43.0	41.0					17																	39092725		2203	4299	6502	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092725G>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.131C>T	17.37:g.39092725G>A	ENSP00000209718:p.Ser44Phe					KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.S44F|KRT23_uc002hvn.1_Missense_Mutation_p.S44F	p.S44F	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	720	-		Breast(137;0.000301)|Ovarian(249;0.15)	44			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.131C>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471838	0.63737	.	.	ENSG00000108244	ENST00000209718	D	0.83992	-1.79	5.73	5.73	0.89815	.	0.000000	0.53938	D	0.000044	D	0.86251	0.5888	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.85822	0.1386	10	0.42905	T	0.14	.	19.4866	0.95032	0.0:0.0:1.0:0.0	.	44	Q9C075	K1C23_HUMAN	F	44	ENSP00000209718:S44F	ENSP00000209718:S44F	S	-	2	0	KRT23	36346251	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	4.756000	0.62205	2.707000	0.92482	0.557000	0.71058	TCC		PASS	0.701	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			21	18	21	18	---	---	---	---
KRT15	3866	broad.mit.edu	37	17	39672489	39672489	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:39672489G>A	ENST00000254043.3	-	4	4352	c.767C>T	c.(766-768)gCc>gTc	p.A256V	KRT15_ENST00000393974.3_Missense_Mutation_p.A91V|KRT15_ENST00000393981.3_Missense_Mutation_p.A91V|KRT15_ENST00000393976.2_Missense_Mutation_p.A256V	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	256	Linker 12.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.A256V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GACCTGGCCGGCCAGCTGGCT	0.607																																						uc002hwy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(766-768)GCC>GTC		keratin 15							156.0	159.0	158.0					17																	39672489		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39672489G>A		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.767C>T	17.37:g.39672489G>A	ENSP00000254043:p.Ala256Val					KRT15_uc002hwz.2_Missense_Mutation_p.A158V|KRT15_uc002hxa.2_Missense_Mutation_p.A91V|KRT15_uc002hxb.1_Missense_Mutation_p.A91V	p.A256V	NM_002275	NP_002266	P19012	K1C15_HUMAN			4	958	-		Breast(137;0.000286)	256			Rod.|Linker 12.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.767C>T	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362114	0.24684	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	4.72	1.62	0.23740	Filament (1);	0.149012	0.31134	N	0.008187	T	0.66616	0.2807	L	0.45698	1.435	0.23533	N	0.997476	B;B;B	0.18166	0.001;0.026;0.016	B;B;B	0.18263	0.009;0.01;0.021	T	0.58624	-0.7604	10	0.52906	T	0.07	.	6.3097	0.21159	0.1789:0.4359:0.3851:0.0	.	91;256;256	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	V	256;91;256;91;91	ENSP00000254043:A256V;ENSP00000377544:A91V;ENSP00000377546:A256V;ENSP00000377550:A91V;ENSP00000409282:A91V	ENSP00000254043:A256V	A	-	2	0	KRT15	36926015	0.000000	0.05858	0.650000	0.29550	0.488000	0.33401	0.278000	0.18753	0.689000	0.31550	-0.136000	0.14681	GCC		PASS	0.607	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		71	103	71	103	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39739615	39739615	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:39739615C>T	ENST00000167586.6	-	6	1232	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	382	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.E382E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GGGCCAGCTGCTCCTCCACGC	0.607																																						uc002hxf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1144-1146)GAG>GAA		keratin 14							50.0	49.0	49.0					17																	39739615		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739615C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1146G>A	17.37:g.39739615C>T						JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron	p.E382E	NM_000526	NP_000517	P02533	K1C14_HUMAN			6	1207	-		Breast(137;0.000307)	382			Rod.|Coil 2.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.1146G>A	CCDS11400.1																																																																																				PASS	0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		8	33	8	33	---	---	---	---
HAP1	9001	broad.mit.edu	37	17	39881284	39881284	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:39881284G>A	ENST00000310778.5	-	12	1694	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	HAP1_ENST00000341193.5_Missense_Mutation_p.P493L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.P485L|HAP1_ENST00000347901.4_Missense_Mutation_p.P510L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	562	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.P510L(1)|p.P510H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCTCCTGGGGCACGAACTC	0.637																																						uc002hxm.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(1684-1686)CCC>CTC		huntingtin-associated protein 1 isoform 2							187.0	194.0	192.0					17																	39881284		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881284G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1685C>T	17.37:g.39881284G>A	ENSP00000309392:p.Pro562Leu					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.P510L|HAP1_uc002hxo.1_Missense_Mutation_p.P493L|HAP1_uc002hxp.1_Missense_Mutation_p.P485L	p.P562L	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		12	1697	-		Breast(137;0.000162)	562			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1685C>T		.	.	.	.	.	.	.	.	.	.	G	16.89	3.246885	0.59103	.	.	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T;T	0.54866	0.63;0.55;2.04;2.55;2.11;2.09	3.19	3.19	0.36642	.	0.000000	0.39407	N	0.001380	T	0.58864	0.2152	L	0.29908	0.895	0.22819	N	0.998693	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.50575	-0.8812	10	0.62326	D	0.03	-12.1389	12.6619	0.56820	0.0:0.0:1.0:0.0	.	485;493;510;562	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	17;37;485;562;510;493	ENSP00000404640:P17L;ENSP00000388981:P37L;ENSP00000377513:P485L;ENSP00000309392:P562L;ENSP00000334002:P510L;ENSP00000343170:P493L	ENSP00000309392:P562L	P	-	2	0	HAP1	37134810	0.037000	0.19845	0.015000	0.15790	0.003000	0.03518	0.698000	0.25571	2.064000	0.61679	0.609000	0.83330	CCC		PASS	0.637	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		45	157	45	157	---	---	---	---
NKIRAS2	28511	broad.mit.edu	37	17	40174625	40174625	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:40174625G>A	ENST00000307641.5	+	3	924	c.303G>A	c.(301-303)aaG>aaA	p.K101K	NKIRAS2_ENST00000316082.4_Silent_p.K101K|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.R69K|NKIRAS2_ENST00000393884.2_Silent_p.K99K|NKIRAS2_ENST00000393880.1_Silent_p.K101K|NKIRAS2_ENST00000393885.4_Silent_p.K101K|NKIRAS2_ENST00000449471.4_Intron|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000393881.3_Silent_p.K101K|NKIRAS2_ENST00000462043.2_Intron	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	101	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K101K(1)		large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				AGCTGCTCAAGAAGGAGATTG	0.552																																						uc002hyq.2																			1	Substitution - coding silent(1)	p.K101M(1)	lung(1)	ovary(1)	1						c.(301-303)AAG>AAA		NFKB inhibitor interacting Ras-like 2 isoform a							91.0	83.0	86.0					17																	40174625		2203	4300	6503	SO:0001819	synonymous_variant	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40174625G>A	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.303G>A	17.37:g.40174625G>A						NKIRAS2_uc010wgd.1_Missense_Mutation_p.R69K|NKIRAS2_uc002hyr.2_Silent_p.K101K|NKIRAS2_uc002hys.2_Silent_p.K101K|NKIRAS2_uc010wge.1_Intron|NKIRAS2_uc002hyt.2_Silent_p.K101K	p.K101K	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			3	368	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	101			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Silent	SNP	ENST00000307641.5	37	c.303G>A	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052967	0.75960	.	.	ENSG00000168256	ENST00000449471	.	.	.	5.33	4.36	0.52297	.	.	.	.	.	T	0.78291	0.4260	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.80034	-0.1551	6	.	.	.	-13.1669	14.5119	0.67794	0.0712:0.0:0.9288:0.0	.	69	E9PAZ8	.	K	69	.	.	R	+	2	0	NKIRAS2	37428151	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.802000	0.69122	1.401000	0.46761	-0.224000	0.12420	AGA		PASS	0.552	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		13	26	13	26	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40453402	40453402	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:40453402C>T	ENST00000345506.4	+	10	1741	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	STAT5A_ENST00000546010.2_Missense_Mutation_p.P337S|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367S|STAT5A_ENST00000590949.1_Missense_Mutation_p.P367S|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367S	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P367S(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CATGAATCCCCCCCAGGTGAA	0.567																																						uc002hzj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1099-1101)CCC>TCC		signal transducer and activator of transcription							144.0	122.0	130.0					17																	40453402		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40453402C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1099C>T	17.37:g.40453402C>T	ENSP00000341208:p.Pro367Ser					STAT5A_uc010cya.1_Missense_Mutation_p.P367S|STAT5A_uc010cyb.1_Missense_Mutation_p.P367S|STAT5A_uc010cyc.1_Missense_Mutation_p.P337S	p.P367S	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	10	1741	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	367					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.1099C>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840618	0.71488	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.87650	-2.28;-2.28;-2.28	4.6	4.6	0.57074	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.057740	0.64402	D	0.000001	D	0.93452	0.7911	M	0.79926	2.475	0.80722	D	1	P;D;D	0.69078	0.936;0.997;0.992	P;D;D	0.74023	0.716;0.982;0.938	D	0.94401	0.7623	10	0.66056	D	0.02	-13.6497	17.4923	0.87708	0.0:1.0:0.0:0.0	.	337;369;367	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	S	367;337;369;367	ENSP00000341208:P367S;ENSP00000443107:P337S;ENSP00000400320:P367S	ENSP00000341208:P367S	P	+	1	0	STAT5A	37706928	1.000000	0.71417	0.849000	0.33467	0.682000	0.39822	4.849000	0.62882	2.122000	0.65172	0.306000	0.20318	CCC		PASS	0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		17	38	17	38	---	---	---	---
COASY	80347	broad.mit.edu	37	17	40714916	40714916	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:40714916C>T	ENST00000393818.2	+	1	732	c.276C>T	c.(274-276)acC>acT	p.T92T	COASY_ENST00000590958.1_Silent_p.T121T|COASY_ENST00000420359.1_Silent_p.T92T|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Silent_p.T92T|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	92					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.T92T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATATCCGAACCAAGAGCACCT	0.557																																						uc002hzz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)ACC>ACT		coenzyme A synthase isoform a							112.0	114.0	114.0					17																	40714916		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714916C>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.276C>T	17.37:g.40714916C>T						COASY_uc010cyj.2_Silent_p.T121T|COASY_uc002iab.2_Intron|COASY_uc002iad.2_Silent_p.T92T|COASY_uc002iac.2_Silent_p.T92T|COASY_uc002iae.2_5'Flank	p.T92T	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	2	433	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	92					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.276C>T	CCDS11429.1																																																																																				PASS	0.557	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		54	76	54	76	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40996818	40996818	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:40996818C>T	ENST00000253799.3	+	1	202	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	AOC2_ENST00000452774.2_Silent_p.L59L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	59					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L59L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTGCAGACCTGAGCCGAGA	0.662																																						uc002ibu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(175-177)CTG>TTG		amine oxidase, copper containing 2 isoform b							148.0	158.0	155.0					17																	40996818		2203	4300	6503	SO:0001819	synonymous_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996818C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.175C>T	17.37:g.40996818C>T						AOC2_uc002ibt.2_Silent_p.L59L	p.L59L	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	210	+		Breast(137;0.000143)	59					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	c.175C>T	CCDS11443.1																																																																																				PASS	0.662	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		45	103	45	103	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41053082	41053082	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:41053082G>T	ENST00000253801.2	+	1	268	c.189G>T	c.(187-189)tgG>tgT	p.W63C	G6PC_ENST00000592383.1_Missense_Mutation_p.W63C|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000585489.1_Missense_Mutation_p.W63C	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	63			W -> R (in GSD1A). {ECO:0000269|PubMed:10070617}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.W63C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACTCCTTTGGGTAGCTGTGA	0.493																																						uc002icb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4	GRCh37	CM950485	G6PC	M		c.(187-189)TGG>TGT		glucose-6-phosphatase, catalytic subunit							154.0	140.0	145.0					17																	41053082		2203	4300	6503	SO:0001583	missense	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41053082G>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.189G>T	17.37:g.41053082G>T	ENSP00000253801:p.Trp63Cys					LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.W65C	p.W63C	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	268	+		Breast(137;0.000143)	63		W -> R (in GSD1A).	Helical; (Potential).		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.189G>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204162	0.79127	.	.	ENSG00000131482	ENST00000253801	T	0.74421	-0.84	5.27	5.27	0.74061	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91388	0.5133	10	0.87932	D	0	.	19.078	0.93171	0.0:0.0:1.0:0.0	.	65;63	E7ENG5;P35575	.;G6PC_HUMAN	C	63	ENSP00000253801:W63C	ENSP00000253801:W63C	W	+	3	0	G6PC	38306608	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.561000	0.98142	2.740000	0.93945	0.650000	0.86243	TGG		PASS	0.493	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		7	73	7	73	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41245974	41245974	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:41245974A>G	ENST00000357654.3	-	10	1692	c.1574T>C	c.(1573-1575)gTt>gCt	p.V525A	BRCA1_ENST00000346315.3_Missense_Mutation_p.V525A|BRCA1_ENST00000309486.4_Missense_Mutation_p.V229A|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.V525A|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V525A|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V478A|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	525					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V525A(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTCTTTTGAACTGCCAAATC	0.368			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1573-1575)GTT>GCT	Homologous_recombination	breast cancer 1, early onset isoform 1							64.0	58.0	60.0					17																	41245974		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245974A>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1574T>C	17.37:g.41245974A>G	ENSP00000350283:p.Val525Ala	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V454A|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.V478A|BRCA1_uc002ict.2_Missense_Mutation_p.V525A|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.V525A|BRCA1_uc002ide.1_Missense_Mutation_p.V356A|BRCA1_uc010cyy.1_Missense_Mutation_p.V525A|BRCA1_uc010whs.1_Missense_Mutation_p.V525A|BRCA1_uc010cyz.2_Missense_Mutation_p.V478A|BRCA1_uc010cza.2_Missense_Mutation_p.V499A|BRCA1_uc010wht.1_Missense_Mutation_p.V229A	p.V525A	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1806	-		Breast(137;0.000717)	525					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1574T>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634821	0.47049	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	4.38	2.01	0.26516	.	0.145417	0.31989	N	0.006755	D	0.94483	0.8224	M	0.89785	3.06	0.09310	N	1	B;B;D;D;D;P	0.59357	0.131;0.131;0.985;0.974;0.964;0.846	B;B;P;P;P;P	0.57720	0.039;0.058;0.826;0.813;0.688;0.525	D	0.87721	0.2573	10	0.56958	D	0.05	-0.0123	5.0619	0.14560	0.4928:0.2878:0.0:0.2194	.	525;484;525;525;525;525	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	A	525;525;525;525;229;525;478;525;499	ENSP00000350283:V525A;ENSP00000326002:V525A;ENSP00000246907:V525A;ENSP00000310938:V229A;ENSP00000418960:V525A;ENSP00000418775:V478A;ENSP00000419274:V525A;ENSP00000419988:V499A	ENSP00000310938:V229A	V	-	2	0	BRCA1	38499500	0.001000	0.12720	0.951000	0.38953	0.903000	0.53119	0.706000	0.25690	0.257000	0.21650	0.379000	0.24179	GTT		PASS	0.368	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		4	22	4	22	---	---	---	---
CD300LG	146894	broad.mit.edu	37	17	41939188	41939188	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:41939188C>T	ENST00000317310.4	+	7	949	c.908C>T	c.(907-909)cCt>cTt	p.P303L		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	303					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P303L(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGGAAGCCCCTTCCCAGGCC	0.602																																						uc002iem.2																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CCT>CTT		CD300 molecule-like family member g precursor							43.0	41.0	42.0					17																	41939188		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41939188C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.908C>T	17.37:g.41939188C>T	ENSP00000321005:p.Pro303Leu						p.P303L	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	7	949	+		Breast(137;0.0199)	303			Cytoplasmic (Potential).		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.908C>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546625	0.27652	.	.	ENSG00000161649	ENST00000317310	T	0.33216	1.42	3.79	1.73	0.24493	.	1.199350	0.06177	N	0.678625	T	0.19604	0.0471	N	0.22421	0.69	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.25012	-1.0144	10	0.72032	D	0.01	.	6.8332	0.23921	0.2004:0.6058:0.1938:0.0	.	303	Q6UXG3	CLM9_HUMAN	L	303	ENSP00000321005:P303L	ENSP00000321005:P303L	P	+	2	0	CD300LG	39294714	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.211000	0.17474	0.558000	0.29135	0.655000	0.94253	CCT		PASS	0.602	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		4	3	4	3	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42818751	42818751	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:42818751C>T	ENST00000315005.3	+	10	899	c.761C>T	c.(760-762)tCt>tTt	p.S254F	DBF4B_ENST00000398338.3_Intron|DBF4B_ENST00000393547.2_Missense_Mutation_p.S254F	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	254					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.S254Y(2)|p.S254F(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGAAATTTCTTTTCTTGGA	0.483																																						uc002ihf.2																			3	Substitution - Missense(3)		large_intestine(2)|lung(1)		0						c.(760-762)TCT>TTT		DBF4 homolog B isoform 1							131.0	127.0	128.0					17																	42818751		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42818751C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.761C>T	17.37:g.42818751C>T	ENSP00000323663:p.Ser254Phe					DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Missense_Mutation_p.S68F|DBF4B_uc010wjc.1_Missense_Mutation_p.S238F	p.S254F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			10	974	+		Prostate(33;0.0322)	254					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.761C>T	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778455	0.70107	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	T;T	0.13307	2.6;2.6	5.58	3.49	0.39957	.	0.419888	0.21739	N	0.069860	T	0.29158	0.0725	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74023	0.971;0.97;0.982	T	0.00697	-1.1605	10	0.66056	D	0.02	-22.6945	9.7074	0.40225	0.1546:0.6949:0.1504:0.0	.	254;254;68	Q8NFT6-2;Q8NFT6;Q8NFT6-3	.;DBF4B_HUMAN;.	F	254	ENSP00000377178:S254F;ENSP00000323663:S254F	ENSP00000323663:S254F	S	+	2	0	DBF4B	40174277	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.588000	0.23924	2.622000	0.88805	0.655000	0.94253	TCT		PASS	0.483	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		28	40	28	40	---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42931686	42931686	+	Silent	SNP	G	G	A	rs552616235		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:42931686G>A	ENST00000426333.2	-	23	2595	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	EFTUD2_ENST00000591382.1_Silent_p.I766I|EFTUD2_ENST00000402521.3_Silent_p.I731I|EFTUD2_ENST00000592576.1_Silent_p.I756I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	766					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I766I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AACCTTGAACGATGCTGTCCT	0.567																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2296-2298)ATC>ATT		elongation factor Tu GTP binding domain							126.0	117.0	120.0					17																	42931686		2203	4300	6503	SO:0001819	synonymous_variant	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42931686G>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2298C>T	17.37:g.42931686G>A						EFTUD2_uc010wje.1_Silent_p.I731I|EFTUD2_uc010wjf.1_Silent_p.I756I	p.I766I	NM_004247	NP_004238	Q15029	U5S1_HUMAN			23	2559	-		Prostate(33;0.109)	766					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Silent	SNP	ENST00000426333.2	37	c.2298C>T	CCDS11489.1																																																																																				PASS	0.567	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		20	56	20	56	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45258960	45258960	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:45258960G>T	ENST00000066544.3	-	2	164	c.71C>A	c.(70-72)gCg>gAg	p.A24E	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.A24E|CDC27_ENST00000527547.1_Missense_Mutation_p.A24E|CDC27_ENST00000446365.2_Nonsense_Mutation_p.C12*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	24					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.A24E(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAGGAAAACCGCATCTCGGTA	0.348																																						uc002ild.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(70-72)GCG>GAG		cell division cycle protein 27 isoform 2							37.0	36.0	36.0					17																	45258960		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45258960G>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.71C>A	17.37:g.45258960G>T	ENSP00000066544:p.Ala24Glu					CDC27_uc002ile.3_Missense_Mutation_p.A24E|CDC27_uc002ilf.3_Missense_Mutation_p.A24E|CDC27_uc010wkp.1_Nonsense_Mutation_p.C12*|CDC27_uc010wkq.1_RNA	p.A24E	NM_001256	NP_001247	P30260	CDC27_HUMAN			2	198	-			24					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.71C>A	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.596540|6.596540	0.97692|0.97692	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866|ENST00000446365	D;D;D;D|.	0.93547|.	-3.21;-3.24;-3.21;-1.87|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81460|.	0.4827|.	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	A|A	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	D|.	0.86396|.	0.1739|.	9|.	0.87932|0.72032	D|D	0|0.01	-26.8966|-26.8966	15.6815|15.6815	0.77373|0.77373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	24;24;24|.	G5EA36;G3V1C4;P30260|.	.;.;CDC27_HUMAN|.	E|X	24|12	ENSP00000066544:A24E;ENSP00000434614:A24E;ENSP00000437339:A24E;ENSP00000432105:A24E|.	ENSP00000066544:A24E|ENSP00000392802:C12X	A|C	-|-	2|3	0|2	CDC27|CDC27	42613959|42613959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.086000|9.086000	0.94088|0.94088	2.567000|2.567000	0.86603|0.86603	0.462000|0.462000	0.41574|0.41574	GCG|TGC		PASS	0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	17	3	17	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133781	46133781	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:46133781G>A	ENST00000362042.3	+	3	1160	c.544G>A	c.(544-546)Gat>Aat	p.D182N	NFE2L1_ENST00000536222.1_Missense_Mutation_p.D56N|NFE2L1_ENST00000583378.1_Splice_Site_p.D13N|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D182N|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D24N|NFE2L1_ENST00000361665.3_Splice_Site_p.D171N|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D182N	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	182	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.D182N(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCGACAGGATATTGATCT	0.522																																						uc002imz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(544-546)GAT>AAT		nuclear factor erythroid 2-like 1							334.0	334.0	334.0					17																	46133781		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46133781G>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.544G>A	17.37:g.46133781G>A	ENSP00000354855:p.Asp182Asn					NFE2L1_uc002ina.3_Missense_Mutation_p.D182N|NFE2L1_uc002inb.3_Missense_Mutation_p.D182N|NFE2L1_uc010wle.1_Missense_Mutation_p.D24N|NFE2L1_uc010wlf.1_Missense_Mutation_p.D56N|NFE2L1_uc002inc.1_Missense_Mutation_p.D171N	p.D182N	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			3	1195	+			182			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.544G>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353342	0.95830	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T;T	0.65916	0.94;0.88;-0.18	5.08	5.08	0.68730	.	0.047852	0.85682	D	0.000000	T	0.78065	0.4225	M	0.67953	2.075	0.80722	D	1	D;D;P;P;B	0.89917	1.0;1.0;0.9;0.868;0.221	D;D;P;B;B	0.91635	0.999;0.996;0.487;0.439;0.052	T	0.80223	-0.1471	10	0.66056	D	0.02	-18.1105	17.2363	0.86999	0.0:0.0:1.0:0.0	.	56;24;182;182;182	F5H1B7;B4DYE1;A3KMG6;Q14494-2;Q14494	.;.;.;.;NF2L1_HUMAN	N	201;182;182;56	ENSP00000355190:D182N;ENSP00000350072:D182N;ENSP00000445811:D56N	ENSP00000350072:D182N	D	+	1	0	NFE2L1	43488780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.766000	0.98957	2.388000	0.81334	0.313000	0.20887	GAT		PASS	0.522	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		68	230	68	230	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46607016	46607016	+	Silent	SNP	G	G	T	rs200541812		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:46607016G>T	ENST00000239174.6	-	2	891	c.799C>A	c.(799-801)Cgg>Agg	p.R267R	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	267					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.R267R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGGGGACCCGACCTTCCTCT	0.612																																						uc002ink.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(799-801)CGG>AGG		homeobox B1							97.0	100.0	99.0					17																	46607016		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607016G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.799C>A	17.37:g.46607016G>T							p.R267R	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	805	-			267					Q4VB03	Silent	SNP	ENST00000239174.6	37	c.799C>A	CCDS32675.1																																																																																				PASS	0.612	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			24	38	24	38	---	---	---	---
PRAC1	84366	broad.mit.edu	37	17	46799691	46799691	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:46799691G>A	ENST00000290294.3	-	1	193	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	PRAC2_ENST00000422730.2_RNA|MIR3185_ENST00000583892.1_RNA|PRAC2_ENST00000432056.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1	22						nucleus (GO:0005634)		p.L22F(1)									TTATTAGAGAGAAAAGCACTC	0.542																																						uc002iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)CTC>TTC		prostate cancer susceptibility candidate							98.0	89.0	92.0					17																	46799691		2203	4300	6503	SO:0001583	missense	84366					nucleus		g.chr17:46799691G>A	AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899	ENST00000290294.3:c.64C>T	17.37:g.46799691G>A	ENSP00000290294:p.Leu22Phe					C17orf93_uc002inz.1_5'Flank	p.L22F	NM_032391	NP_115767	Q96KF2	PRAC_HUMAN			1	192	-			22						Missense_Mutation	SNP	ENST00000290294.3	37	c.64C>T	CCDS11535.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066076	0.36470	.	.	ENSG00000159182	ENST00000290294	T	0.61158	0.13	3.58	2.58	0.30949	.	.	.	.	.	T	0.70281	0.3206	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.57665	-0.7772	8	0.87932	D	0	.	8.8952	0.35460	0.0:0.2296:0.7704:0.0	.	22	Q96KF2	PRAC_HUMAN	F	22	ENSP00000290294:L22F	ENSP00000290294:L22F	L	-	1	0	PRAC	44154690	0.022000	0.18835	0.014000	0.15608	0.379000	0.30106	1.390000	0.34464	1.048000	0.40298	0.563000	0.77884	CTC		PASS	0.542	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358086.1	NM_032391		19	34	19	34	---	---	---	---
CALCOCO2	10241	broad.mit.edu	37	17	46925694	46925694	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:46925694G>T	ENST00000258947.3	+	4	395	c.294G>T	c.(292-294)ctG>ctT	p.L98L	CALCOCO2_ENST00000448105.2_Silent_p.L122L|CALCOCO2_ENST00000508679.1_Silent_p.L26L|CALCOCO2_ENST00000416445.2_Silent_p.L98L|CALCOCO2_ENST00000509507.1_Silent_p.L119L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	98					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.L98L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTTACTACCTGCCCAAGGATG	0.398																																						uc002iof.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(292-294)CTG>CTT		calcium binding and coiled-coil domain 2							144.0	121.0	129.0					17																	46925694		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925694G>T	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.294G>T	17.37:g.46925694G>T						CALCOCO2_uc010wlp.1_Silent_p.L119L|CALCOCO2_uc010wlq.1_Silent_p.L26L|CALCOCO2_uc010wlr.1_Silent_p.L122L|CALCOCO2_uc010wls.1_Silent_p.L98L	p.L98L	NM_005831	NP_005822	Q13137	CACO2_HUMAN			4	373	+			98					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.294G>T	CCDS11538.1																																																																																				PASS	0.398	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		18	25	18	25	---	---	---	---
KAT7	11143	broad.mit.edu	37	17	47874115	47874115	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:47874115C>T	ENST00000259021.4	+	3	447	c.167C>T	c.(166-168)tCc>tTc	p.S56F	KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.S56F|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.S56F	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	56	Ser-rich.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S56F(1)									GGATCAGATTCCAGTCCTGTT	0.428																																						uc002ipm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(166-168)TCC>TTC		MYST histone acetyltransferase 2							71.0	76.0	75.0					17																	47874115		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47874115C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.167C>T	17.37:g.47874115C>T	ENSP00000259021:p.Ser56Phe					MYST2_uc002ipl.1_Missense_Mutation_p.S56F|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Missense_Mutation_p.S56F|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	p.S56F	NM_007067	NP_008998	O95251	MYST2_HUMAN			3	293	+			56			Ser-rich.		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.167C>T	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427184	0.62733	.	.	ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009	.	.	.	5.93	5.93	0.95920	.	0.164882	0.56097	D	0.000038	T	0.51787	0.1695	L	0.36672	1.1	0.80722	D	1	P;B;P	0.44195	0.61;0.41;0.828	B;B;B	0.38803	0.146;0.146;0.282	T	0.56001	-0.8051	9	0.59425	D	0.04	-12.1484	19.9388	0.97151	0.0:1.0:0.0:0.0	.	56;56;56	B4DFB4;O95251;G5E9K7	.;KAT7_HUMAN;.	F	56	.	ENSP00000259021:S56F	S	+	2	0	KAT7	45229114	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.696000	0.61774	2.815000	0.96918	0.561000	0.74099	TCC		PASS	0.428	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		20	77	20	77	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48244988	48244988	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48244988G>A	ENST00000262018.3	+	3	239	c.203G>A	c.(202-204)gGa>gAa	p.G68E	SGCA_ENST00000451235.2_Intron|SGCA_ENST00000513942.1_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000344627.6_Missense_Mutation_p.G68E|SGCA_ENST00000543315.1_Missense_Mutation_p.G68E	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	68			G -> E (in LGMD2D). {ECO:0000269|PubMed:7663524}.		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.G68E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACCTCCAGGGACACCCAGAC	0.672																																						uc002iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2	GRCh37	CM951151	SGCA	M		c.(202-204)GGA>GAA		sarcoglycan, alpha isoform 1 precursor							56.0	56.0	56.0					17																	48244988		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48244988G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.203G>A	17.37:g.48244988G>A	ENSP00000262018:p.Gly68Glu					SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.G68E|SGCA_uc010wmi.1_RNA	p.G68E	NM_000023	NP_000014	Q16586	SGCA_HUMAN			3	239	+			68		G -> E (in LGMD2D).	Extracellular (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.203G>A	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839977	0.71488	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98400	-4.91;-4.91;-4.91	4.53	3.55	0.40652	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.273474	0.35436	N	0.003217	D	0.98108	0.9376	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.97110	1.0;0.881	D	0.96904	0.9662	10	0.41790	T	0.15	-9.7593	6.3632	0.21441	0.1971:0.0:0.8029:0.0	.	68;68	Q16586-2;Q16586	.;SGCA_HUMAN	E	68	ENSP00000345522:G68E;ENSP00000262018:G68E;ENSP00000444539:G68E	ENSP00000262018:G68E	G	+	2	0	SGCA	45599987	0.994000	0.37717	1.000000	0.80357	0.990000	0.78478	2.077000	0.41557	2.219000	0.72066	0.462000	0.41574	GGA		PASS	0.672	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		11	19	11	19	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48266110	48266110	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48266110C>T	ENST00000225964.5	-	42	3210	c.3092G>A	c.(3091-3093)gGc>gAc	p.G1031D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1031	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.G1031D(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)	TACCTTGGCGCCAGGAGAACC	0.617			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															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.(3091-3093)GGC>GAC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						112.0	116.0	115.0					17																	48266110		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.chr17:48266110C>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.3092G>A	17.37:g.48266110C>T	ENSP00000225964:p.Gly1031Asp						p.G1031D	NM_000088	NP_000079	P02452	CO1A1_HUMAN			42	3218	-			1031			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.3092G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278476	0.40294	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	3.97	3.97	0.46021	.	0.134032	0.49305	D	0.000142	D	0.99566	0.9844	H	0.95539	3.685	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.97730	1.0202	10	0.87932	D	0	.	15.0421	0.71799	0.0:1.0:0.0:0.0	.	1031	P02452	CO1A1_HUMAN	D	1031	ENSP00000225964:G1031D	ENSP00000225964:G1031D	G	-	2	0	COL1A1	45621109	1.000000	0.71417	0.998000	0.56505	0.046000	0.14306	7.572000	0.82409	2.087000	0.62958	0.306000	0.20318	GGC		PASS	0.617	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			9	35	9	35	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48269882	48269882	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48269882G>A	ENST00000225964.5	-	29	2055	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	646	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.P646L(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)	AGCAGGACCAGGGAGACCCTG	0.582			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															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.(1936-1938)CCT>CTT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						52.0	58.0	56.0					17																	48269882		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.chr17:48269882G>A	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.1937C>T	17.37:g.48269882G>A	ENSP00000225964:p.Pro646Leu						p.P646L	NM_000088	NP_000079	P02452	CO1A1_HUMAN			29	2063	-			646			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.1937C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704920	0.68615	.	.	ENSG00000108821	ENST00000225964	D	0.94897	-3.55	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97504	1.0062	10	0.87932	D	0	.	15.8591	0.79009	0.0:0.0:1.0:0.0	.	646	P02452	CO1A1_HUMAN	L	646	ENSP00000225964:P646L	ENSP00000225964:P646L	P	-	2	0	COL1A1	45624881	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	9.770000	0.98971	2.348000	0.79779	0.655000	0.94253	CCT		PASS	0.582	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			19	12	19	12	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48270367	48270367	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48270367G>A	ENST00000225964.5	-	26	1927	c.1809C>T	c.(1807-1809)ccC>ccT	p.P603P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	603	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.P603P(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)	CAGCGCCAGGGGGTCCGGGAA	0.632			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															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 - coding silent(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(1807-1809)CCC>CCT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						45.0	48.0	47.0					17																	48270367		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:48270367G>A	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.1809C>T	17.37:g.48270367G>A							p.P603P	NM_000088	NP_000079	P02452	CO1A1_HUMAN			26	1935	-			603			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1809C>T	CCDS11561.1																																																																																				PASS	0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			5	18	5	18	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48695421	48695421	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48695421G>A	ENST00000359106.5	+	31	5239	c.5239G>A	c.(5239-5241)Gga>Aga	p.G1747R	CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1690R|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1713R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1702R|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1729R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1747R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1695R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1736R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1722R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1736R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1740R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1713R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1747R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1736R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1754R|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1702R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1724R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1713R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1706R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1713R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1736R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1747R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1724R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1713R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1729R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1747					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.G1747R(2)|p.G1713R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGGAACCTGGGACTTCTCTT	0.557																																						uc002irk.1																			3	Substitution - Missense(3)		lung(3)	breast(1)	1						c.(5239-5241)GGA>AGA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						82.0	80.0	81.0					17																	48695421		1855	4108	5963	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48695421G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5239G>A	17.37:g.48695421G>A	ENSP00000352011:p.Gly1747Arg					CACNA1G_uc002irj.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irl.1_Missense_Mutation_p.G1724R|CACNA1G_uc002irm.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irn.1_Missense_Mutation_p.G1706R|CACNA1G_uc002iro.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irp.1_Missense_Mutation_p.G1747R|CACNA1G_uc002irq.1_Missense_Mutation_p.G1724R|CACNA1G_uc002irr.1_Missense_Mutation_p.G1747R|CACNA1G_uc002irs.1_Missense_Mutation_p.G1736R|CACNA1G_uc002irt.1_Missense_Mutation_p.G1729R|CACNA1G_uc002irv.1_Missense_Mutation_p.G1736R|CACNA1G_uc002irw.1_Missense_Mutation_p.G1724R|CACNA1G_uc002iru.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irx.1_Missense_Mutation_p.G1660R|CACNA1G_uc002iry.1_Missense_Mutation_p.G1649R|CACNA1G_uc002irz.1_Missense_Mutation_p.G1653R|CACNA1G_uc002isa.1_Missense_Mutation_p.G1626R|CACNA1G_uc002isb.1_Missense_Mutation_p.G1667R|CACNA1G_uc002isc.1_Missense_Mutation_p.G1649R|CACNA1G_uc002isd.1_Missense_Mutation_p.G1635R|CACNA1G_uc002ise.1_Missense_Mutation_p.G1615R|CACNA1G_uc002isf.1_Missense_Mutation_p.G1642R|CACNA1G_uc002isg.1_Missense_Mutation_p.G1608R|CACNA1G_uc002ish.1_Missense_Mutation_p.G1615R|CACNA1G_uc002isi.1_Missense_Mutation_p.G1603R	p.G1747R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		31	5611	+	Breast(11;6.7e-17)		1747			Helical; Name=S5 of repeat IV; (Potential).|IV.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5239G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.103305	0.76983	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.982;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.98;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.997	D	0.98507	1.0617	10	0.87932	D	0	.	19.0783	0.93171	0.0:0.0:1.0:0.0	.	1690;1702;1695;1729;1702;1722;1754;1713;1740;1736;1747;1724;1736;1736;1729;1736;1747;1724;1747;1713;1706;1713;1724;1747;1713	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	R	1724;1713;1713;1706;1724;1736;1702;1690;1695;1713;1747;1736;1702;1740;1713;1747;1722;1736;1754;1713;1747;1729;1729;1747;1736	ENSP00000353990:G1724R;ENSP00000339302:G1713R;ENSP00000347078:G1713R;ENSP00000409759:G1706R;ENSP00000425522:G1724R;ENSP00000426261:G1736R;ENSP00000425451:G1702R;ENSP00000422407:G1690R;ENSP00000426814:G1695R;ENSP00000427238:G1713R;ENSP00000423112:G1747R;ENSP00000420918:G1736R;ENSP00000426172:G1702R;ENSP00000423045:G1740R;ENSP00000427173:G1713R;ENSP00000426098:G1747R;ENSP00000425698:G1722R;ENSP00000426232:G1736R;ENSP00000423317:G1754R;ENSP00000350979:G1713R;ENSP00000352011:G1747R;ENSP00000414388:G1729R;ENSP00000423155:G1729R;ENSP00000422268:G1747R;ENSP00000421518:G1736R	ENSP00000339302:G1713R	G	+	1	0	CACNA1G	46050420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.504000	0.84457	0.655000	0.94253	GGA		PASS	0.557	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	21	5	21	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917207	48917207	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:48917207C>T	ENST00000311378.4	+	2	1086	c.558C>T	c.(556-558)ccC>ccT	p.P186P	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.P93P	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	186					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P186P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACACCAGCCCCCCACCACCTG	0.622																																						uc002isv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(556-558)CCC>CCT		WFIKKN2 protein							87.0	84.0	85.0					17																	48917207		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917207C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.558C>T	17.37:g.48917207C>T						WFIKKN2_uc010dbu.2_Silent_p.P93P	p.P186P	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1252	+			186					Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.558C>T	CCDS11575.1																																																																																				PASS	0.622	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		8	15	8	15	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54534322	54534322	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:54534322G>A	ENST00000318698.2	+	11	1351		c.e11+1		ANKFN1_ENST00000566473.2_Splice_Site	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1									p.?(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCTTAAAACGGTGGGTTCTAT	0.383																																						uc002iun.1																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e11+1		ankyrin-repeat and fibronectin type III domain							52.0	52.0	52.0					17																	54534322		2203	4300	6503	SO:0001630	splice_region_variant	162282							g.chr17:54534322G>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1316+1G>A	17.37:g.54534322G>A							p.R439_splice	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			11	1351	+									Splice_Site	SNP	ENST00000318698.2	37	c.1316_splice	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849162	0.71603	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKFN1	51889321	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	.		PASS	0.383	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	Intron	9	33	9	33	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56271340	56271340	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:56271340G>A	ENST00000225371.5	+	5	591	c.481G>A	c.(481-483)Ggg>Agg	p.G161R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	161					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G161R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACCCTTGCTAGGGGCCTCCAA	0.667																																						uc002ivq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-483)GGG>AGG		eosinophil peroxidase preproprotein							30.0	32.0	31.0					17																	56271340		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271340G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.481G>A	17.37:g.56271340G>A	ENSP00000225371:p.Gly161Arg						p.G161R	NM_000502	NP_000493	P11678	PERE_HUMAN			5	567	+			161					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.481G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455845	0.63401	.	.	ENSG00000121053	ENST00000225371	D	0.96334	-3.98	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98911	1.0780	10	0.87932	D	0	-25.9578	14.1512	0.65387	0.0:0.0:1.0:0.0	.	161	P11678	PERE_HUMAN	R	161	ENSP00000225371:G161R	ENSP00000225371:G161R	G	+	1	0	EPX	53626339	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	9.162000	0.94745	2.267000	0.75376	0.448000	0.29417	GGG		PASS	0.667	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		4	13	4	13	---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56285516	56285516	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:56285516G>A	ENST00000393119.2	-	13	1189	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	MKS1_ENST00000546108.1_Missense_Mutation_p.S169F|MKS1_ENST00000337050.7_Missense_Mutation_p.S372F|MKS1_ENST00000537529.2_Missense_Mutation_p.S362F|MKS1_ENST00000313863.6_Missense_Mutation_p.S372F	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	372	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.S372F(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAATGGGTAGGAGAAGTGAGC	0.502																																						uc002ivr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1114-1116)TCC>TTC		Meckel syndrome type 1 protein isoform 1							91.0	100.0	97.0					17																	56285516		2004	4170	6174	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56285516G>A	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1115C>T	17.37:g.56285516G>A	ENSP00000376827:p.Ser372Phe					MKS1_uc010wnq.1_Missense_Mutation_p.S169F|MKS1_uc002ivs.1_Missense_Mutation_p.S372F	p.S372F	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			13	1190	-			372			B9.		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.1115C>T	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.11|18.11	3.551766|3.551766	0.65311|0.65311	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000313863|ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	.|T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68	5.58|5.58	3.54|3.54	0.40534|0.40534	.|.	.|0.237249	.|0.49305	.|D	.|0.000155	T|T	0.82089|0.82089	0.4961|0.4961	M|M	0.80982|0.80982	2.52|2.52	0.40625|0.40625	D|D	0.981806|0.981806	.|D;P	.|0.56746	.|0.977;0.631	.|P;P	.|0.61003	.|0.882;0.869	D|D	0.84407|0.84407	0.0563|0.0563	5|10	.|0.62326	.|D	.|0.03	-10.8253|-10.8253	14.2089|14.2089	0.65753|0.65753	0.0:0.4686:0.5314:0.0|0.0:0.4686:0.5314:0.0	.|.	.|372;372	.|A8MPP8;Q9NXB0	.|.;MKS1_HUMAN	S|F	373|362;372;372;372;169	.|ENSP00000442096:S362F;ENSP00000376827:S372F;ENSP00000338407:S372F;ENSP00000443012:S169F	.|ENSP00000338407:S372F	P|S	-|-	1|2	0|0	MKS1|MKS1	53640515|53640515	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	2.027000|2.027000	0.41078|0.41078	0.673000|0.673000	0.31224|0.31224	-0.321000|-0.321000	0.08615|0.08615	CCT|TCC		PASS	0.502	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		14	18	14	18	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56350926	56350926	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:56350926G>A	ENST00000225275.3	-	9	1646	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	MPO_ENST00000340482.3_Silent_p.I522I|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	490					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I490I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGACGTTGGCGATGCGTGGGT	0.602																																						uc002ivu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1468-1470)ATC>ATT		myeloperoxidase	Cefdinir(DB00535)						296.0	230.0	252.0					17																	56350926		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350926G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1470C>T	17.37:g.56350926G>A							p.I490I	NM_000250	NP_000241	P05164	PERM_HUMAN			9	1647	-			490					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1470C>T	CCDS11604.1																																																																																				PASS	0.602	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			18	56	18	56	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56649316	56649316	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:56649316G>A	ENST00000240361.8	-	25	3906	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	TEX14_ENST00000349033.5_Missense_Mutation_p.S1228F|TEX14_ENST00000389934.3_Missense_Mutation_p.S1268F			Q8IWB6	TEX14_HUMAN	testis expressed 14	1274					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.S1228F(1)|p.S1274F(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTTCAGAGGAAGTAAGGAG	0.433																																						uc010dcz.1																			2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(3820-3822)TCC>TTC		testis expressed sequence 14 isoform a							88.0	82.0	84.0					17																	56649316		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56649316G>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3821C>T	17.37:g.56649316G>A	ENSP00000240361:p.Ser1274Phe					TEX14_uc002iwr.1_Missense_Mutation_p.S1268F|TEX14_uc002iws.1_Missense_Mutation_p.S1228F|TEX14_uc010dda.1_Missense_Mutation_p.S1008F	p.S1274F	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			25	3939	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1274					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3821C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983159	0.34942	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23950	1.88;1.88;1.88	5.18	4.21	0.49690	.	0.202617	0.35466	N	0.003191	T	0.33177	0.0854	L	0.47716	1.5	0.30388	N	0.781242	B;P;B	0.47604	0.115;0.898;0.183	B;P;B	0.51385	0.063;0.668;0.133	T	0.29427	-1.0012	10	0.72032	D	0.01	-4.6565	11.743	0.51804	0.0:0.1768:0.8232:0.0	.	1274;1228;1268	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	F	1274;1268;1228	ENSP00000240361:S1274F;ENSP00000374584:S1268F;ENSP00000268910:S1228F	ENSP00000240361:S1274F	S	-	2	0	TEX14	54004315	0.999000	0.42202	0.850000	0.33497	0.020000	0.10135	2.981000	0.49329	1.419000	0.47118	-0.150000	0.13652	TCC		PASS	0.433	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			24	42	24	42	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56663264	56663264	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:56663264C>T	ENST00000240361.8	-	18	3071	c.2986G>A	c.(2986-2988)Gaa>Aaa	p.E996K	TEX14_ENST00000349033.5_Missense_Mutation_p.E990K|TEX14_ENST00000389934.3_Missense_Mutation_p.E990K			Q8IWB6	TEX14_HUMAN	testis expressed 14	996					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.E990K(1)|p.E996K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATTTTCCCTATGATAC	0.527																																						uc010dcz.1																			2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2986-2988)GAA>AAA		testis expressed sequence 14 isoform a							182.0	165.0	171.0					17																	56663264		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56663264C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2986G>A	17.37:g.56663264C>T	ENSP00000240361:p.Glu996Lys					TEX14_uc002iwr.1_Missense_Mutation_p.E990K|TEX14_uc002iws.1_Missense_Mutation_p.E990K|TEX14_uc010dda.1_Missense_Mutation_p.E770K	p.E996K	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			18	3104	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		996					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2986G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537891	0.27475	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80824	-1.42;-1.42;-1.36	4.85	-0.0547	0.13813	.	0.746735	0.12742	N	0.442981	T	0.53286	0.1787	N	0.01800	-0.715	0.09310	N	1	B;B;B	0.15473	0.003;0.013;0.013	B;B;B	0.15484	0.006;0.013;0.013	T	0.40478	-0.9561	10	0.18276	T	0.48	-1.613	10.3495	0.43927	0.0:0.8102:0.0:0.1898	.	996;990;990	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	K	996;990;990	ENSP00000240361:E996K;ENSP00000374584:E990K;ENSP00000268910:E990K	ENSP00000240361:E996K	E	-	1	0	TEX14	54018263	0.127000	0.22367	0.019000	0.16419	0.337000	0.28794	0.325000	0.19628	-0.073000	0.12842	0.561000	0.74099	GAA		PASS	0.527	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			13	80	13	80	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	57033100	57033100	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:57033100G>A	ENST00000308249.2	+	2	684	c.555G>A	c.(553-555)aaG>aaA	p.K185K		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.K185K(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATATCCCAAAGGAAACGGATG	0.403																																						uc002iwx.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|lung(1)|skin(1)	5						c.(553-555)AAG>AAA		protein phosphatase 1E							119.0	108.0	112.0					17																	57033100		2203	4300	6503	SO:0001819	synonymous_variant	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57033100G>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.555G>A	17.37:g.57033100G>A						PPM1E_uc010ddd.2_Missense_Mutation_p.R15K	p.K185K	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		2	682	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		194					Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	c.555G>A	CCDS11613.1																																																																																				PASS	0.403	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		18	72	18	72	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58332618	58332618	+	Splice_Site	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:58332618A>T	ENST00000300896.4	-	10	1186	c.992T>A	c.(991-993)aTg>aAg	p.M331K	USP32_ENST00000393003.3_Splice_Site_p.M331K|USP32_ENST00000592339.1_Splice_Site_p.M1K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	331					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M331K(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGATGACCCATCTGAAACAG	0.383																																						uc002iyo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(991-993)ATG>AAG		ubiquitin specific protease 32							103.0	93.0	96.0					17																	58332618		2203	4300	6503	SO:0001630	splice_region_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58332618A>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.991-1T>A	17.37:g.58332618A>T						USP32_uc002iyn.1_Missense_Mutation_p.M1K|USP32_uc010wov.1_Missense_Mutation_p.M331K	p.M331K	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		10	1278	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		331					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.992T>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	2.176	-0.388638	0.04932	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.65178	-0.14;-0.14	5.25	2.9	0.33743	EF-hand-like domain (1);	0.723020	0.14579	N	0.310973	T	0.31513	0.0799	N	0.03608	-0.345	0.24110	N	0.995845	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17107	-1.0380	10	0.06625	T	0.88	.	8.8982	0.35479	0.7493:0.1276:0.0:0.1231	.	331;331	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	K	331	ENSP00000300896:M331K;ENSP00000376727:M331K	ENSP00000300896:M331K	M	-	2	0	USP32	55687400	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	3.907000	0.56348	1.989000	0.58080	0.533000	0.62120	ATG		PASS	0.383	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	Missense_Mutation	8	31	8	31	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59885938	59885938	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:59885938C>T	ENST00000259008.2	-	7	1075	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	BRIP1_ENST00000577598.1_Missense_Mutation_p.G270R	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	270	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G270R(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATTGGAACCCCTGAATATGCC	0.443			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(808-810)GGG>AGG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							139.0	126.0	130.0					17																	59885938		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59885938C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.808G>A	17.37:g.59885938C>T	ENSP00000259008:p.Gly270Arg						p.G270R	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			7	949	-			270			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.808G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	9.897	1.205820	0.22205	.	.	ENSG00000136492	ENST00000259008	T	0.69806	-0.43	5.29	3.28	0.37604	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.489152	0.25813	N	0.028140	T	0.41096	0.1144	N	0.10707	0.03	0.30494	N	0.771067	P	0.44429	0.835	B	0.40864	0.342	T	0.38308	-0.9667	9	.	.	.	-0.8008	5.9685	0.19338	0.1351:0.6505:0.0:0.2144	.	270	Q9BX63	FANCJ_HUMAN	R	270	ENSP00000259008:G270R	.	G	-	1	0	BRIP1	57240720	0.899000	0.30636	1.000000	0.80357	0.956000	0.61745	-0.029000	0.12329	0.683000	0.31428	-0.317000	0.08691	GGG		PASS	0.443	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		20	54	20	54	---	---	---	---
INTS2	57508	broad.mit.edu	37	17	59944991	59944991	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:59944991G>A	ENST00000444766.3	-	25	3617	c.3542C>T	c.(3541-3543)cCt>cTt	p.P1181L	INTS2_ENST00000251334.6_Missense_Mutation_p.P1173L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1181					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.P1181L(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTGTACATCAGGATCCATGCT	0.328																																						uc002izn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(3541-3543)CCT>CTT		integrator complex subunit 2							79.0	76.0	77.0					17																	59944991		1837	4090	5927	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59944991G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3542C>T	17.37:g.59944991G>A	ENSP00000414237:p.Pro1181Leu					INTS2_uc002izm.2_Missense_Mutation_p.P1173L	p.P1181L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			25	3618	-			1181					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.3542C>T	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304428	0.81136	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.58060	0.36	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.63800	-0.6555	9	.	.	.	-19.4664	19.2369	0.93864	0.0:0.0:1.0:0.0	.	1181	Q9H0H0	INT2_HUMAN	L	1181;1180	ENSP00000414237:P1181L	.	P	-	2	0	INTS2	57299773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.376000	0.90138	2.796000	0.96246	0.585000	0.79938	CCT		PASS	0.328	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		19	25	19	25	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60040321	60040321	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:60040321C>A	ENST00000397786.2	-	21	4932	c.4856G>T	c.(4855-4857)cGg>cTg	p.R1619L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1619					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1619L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACTTTATCCCGATCCATCGT	0.398																																						uc002izo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(4855-4857)CGG>CTG		mediator complex subunit 13							84.0	82.0	83.0					17																	60040321		1854	4100	5954	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60040321C>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4856G>T	17.37:g.60040321C>A	ENSP00000380888:p.Arg1619Leu						p.R1619L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			21	4933	-			1619					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.4856G>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208388	0.95069	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.76316	-1.01	5.44	5.44	0.79542	.	0.056373	0.64402	D	0.000001	T	0.75474	0.3854	M	0.70275	2.135	0.80722	D	1	P	0.48407	0.91	B	0.38056	0.264	T	0.75141	-0.3422	10	0.19590	T	0.45	-25.8306	19.2747	0.94027	0.0:1.0:0.0:0.0	.	1619	Q9UHV7	MED13_HUMAN	L	1619;1618	ENSP00000380888:R1619L	ENSP00000262436:R1618L	R	-	2	0	MED13	57395103	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.558000	0.86282	0.655000	0.94253	CGG		PASS	0.398	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		4	58	4	58	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60753195	60753196	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:60753195_60753196CC>TT	ENST00000303375.5	+	10	2016_2017	c.1614_1615CC>TT	c.(1612-1617)gaCCaa>gaTTaa	p.Q539*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	539	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.Q539*(2)|p.D538D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGGGAGAAGACCAAGTGACCTA	0.609																																						uc002jad.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1612-1614)GAC>GAT|c.(1615-1617)CAA>TAA		mannose receptor, C type 2																																				SO:0001587	stop_gained	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60753195C>T|g.chr17:60753196C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		Exception_encountered	17.37:g.60753195_60753196delinsTT	ENSP00000307513:p.Gln539*					MRC2_uc002jac.2_Silent_p.D538D|MRC2_uc010ddq.1_5'Flank|MRC2_uc002jac.2_Nonsense_Mutation_p.Q539*|MRC2_uc010ddq.1_5'Flank	p.D538D|p.Q539*	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			10	2016|2017	+			538|539			Extracellular (Potential).|C-type lectin 3.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent|Nonsense_Mutation	SNP	ENST00000303375.5	37	c.1614C>T|c.1615C>T	CCDS11634.1																																																																																				PASS	0.609	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			11	54	11	54	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61345178	61345178	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:61345178C>T	ENST00000424789.2	+	7	885	c.881C>T	c.(880-882)tCt>tTt	p.S294F	TANC2_ENST00000389520.4_Missense_Mutation_p.S294F|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	294					in utero embryonic development (GO:0001701)			p.S294F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTGAGAACTTCTCTACGAATG	0.483																																						uc002jal.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(880-882)TCT>TTT		tetratricopeptide repeat, ankyrin repeat and							71.0	71.0	71.0					17																	61345178		1960	4162	6122	SO:0001583	missense	26115						binding	g.chr17:61345178C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.881C>T	17.37:g.61345178C>T	ENSP00000387593:p.Ser294Phe					TANC2_uc010wpe.1_Missense_Mutation_p.S204F	p.S294F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			7	904	+			294					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.881C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953041	0.92660	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.79554	-1.23;-1.28	5.12	5.12	0.69794	.	.	.	.	.	D	0.89185	0.6643	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.70227	0.945;0.968	D	0.90011	0.4121	9	0.62326	D	0.03	.	17.6833	0.88250	0.0:1.0:0.0:0.0	.	294;294	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	F	294	ENSP00000374171:S294F;ENSP00000387593:S294F	ENSP00000374171:S294F	S	+	2	0	TANC2	58698910	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.091000	0.76923	2.516000	0.84829	0.655000	0.94253	TCT		PASS	0.483	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			15	31	15	31	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62121422	62121422	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:62121422C>T	ENST00000433197.3	-	22	2955	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.E954K(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AAGAGTCTCTCGTGGCTGCAC	0.657																																						uc002jdz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(2860-2862)GAG>AAG		endoplasmic reticulum to nucleus signalling 1							52.0	64.0	60.0					17																	62121422		2062	4211	6273	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62121422C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2860G>A	17.37:g.62121422C>T	ENSP00000401445:p.Glu954Lys					uc002jdy.1_5'Flank	p.E954K	NM_001433	NP_001424	O75460	ERN1_HUMAN			22	2973	-			954			Cytoplasmic (Potential).|KEN.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2860G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.611540	0.96637	.	.	ENSG00000178607	ENST00000433197	T	0.32753	1.44	5.22	5.22	0.72569	KEN domain, ribonuclease activator (2);	0.119442	0.56097	D	0.000039	T	0.61515	0.2353	H	0.95950	3.745	0.80722	D	1	P	0.51449	0.945	P	0.50791	0.65	T	0.76906	-0.2786	10	0.87932	D	0	-31.597	18.7781	0.91920	0.0:1.0:0.0:0.0	.	954	O75460	ERN1_HUMAN	K	954	ENSP00000401445:E954K	ENSP00000401445:E954K	E	-	1	0	ERN1	59475154	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.434000	0.82447	0.561000	0.74099	GAG		PASS	0.657	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		9	35	9	35	---	---	---	---
ERN1	2081	broad.mit.edu	37	17	62137873	62137873	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:62137873C>T	ENST00000433197.3	-	11	1257	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1									p.E388K(1)		central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ATCACATTTTCCCGATGTTTG	0.478																																						uc002jdz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						c.(1162-1164)GAA>AAA		endoplasmic reticulum to nucleus signalling 1							171.0	166.0	167.0					17																	62137873		1930	4132	6062	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62137873C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1162G>A	17.37:g.62137873C>T	ENSP00000401445:p.Glu388Lys						p.E388K	NM_001433	NP_001424	O75460	ERN1_HUMAN			11	1275	-			388			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000433197.3	37	c.1162G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670673	0.67814	.	.	ENSG00000178607	ENST00000433197	T	0.60797	0.16	5.33	5.33	0.75918	.	0.055621	0.64402	D	0.000001	T	0.49236	0.1545	L	0.41236	1.265	0.51012	D	0.999906	B	0.25105	0.118	B	0.21917	0.037	T	0.44651	-0.9314	10	0.11794	T	0.64	-18.9539	19.0067	0.92854	0.0:1.0:0.0:0.0	.	388	O75460	ERN1_HUMAN	K	388	ENSP00000401445:E388K	ENSP00000401445:E388K	E	-	1	0	ERN1	59491605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.827000	0.75303	2.481000	0.83766	0.462000	0.41574	GAA		PASS	0.478	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		18	53	18	53	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63193340	63193340	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:63193340C>T	ENST00000262406.9	+	13	1024	c.957C>T	c.(955-957)ttC>ttT	p.F319F	RGS9_ENST00000443584.3_Silent_p.F316F|RGS9_ENST00000449996.3_Silent_p.F316F	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	319	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.			F -> S (in Ref. 3; AAM12647). {ECO:0000305}.	dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.F319F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCAGTACTTCCTCAAGAAAG	0.433																																						uc002jfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(955-957)TTC>TTT		regulator of G-protein signaling 9 isoform 1							53.0	50.0	51.0					17																	63193340		1838	4087	5925	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63193340C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.957C>T	17.37:g.63193340C>T						RGS9_uc010dem.2_Silent_p.F316F|RGS9_uc002jfd.2_Silent_p.F316F|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.F90F	p.F319F	NM_003835	NP_003826	O75916	RGS9_HUMAN			13	1067	+			319	F -> S (in Ref. 3; AAM12647).		RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.957C>T	CCDS42373.1																																																																																				PASS	0.433	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	19	4	19	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532556	63532556	+	Missense_Mutation	SNP	G	G	A	rs151279728	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:63532556G>A	ENST00000375702.5	-	6	1936	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	AXIN2_ENST00000307078.5_Missense_Mutation_p.R675C			Q9Y2T1	AXIN2_HUMAN	axin 2	659				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.R675C(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGGTGGGCACGGGGGGTGGTG	0.692									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2023-2025)CGT>TGT		axin 2							21.0	27.0	25.0					17																	63532556		2200	4296	6496	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532556G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1828C>T	17.37:g.63532556G>A	ENSP00000364854:p.Arg610Cys					AXIN2_uc002jfh.2_Missense_Mutation_p.R610C	p.R675C	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			8	2312	-			675					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.2023C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.829156	0.90955	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.65549	-0.16;-0.11	5.42	5.42	0.78866	.	0.159529	0.56097	D	0.000030	T	0.50718	0.1632	N	0.08118	0	0.50813	D	0.999897	D;D	0.69078	0.997;0.995	P;B	0.46452	0.517;0.446	T	0.61941	-0.6959	10	0.66056	D	0.02	-19.5912	18.8221	0.92102	0.0:0.0:1.0:0.0	.	675;610	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	C	675;610	ENSP00000302625:R675C;ENSP00000364854:R610C	ENSP00000302625:R675C	R	-	1	0	AXIN2	60963018	1.000000	0.71417	0.969000	0.41365	0.895000	0.52256	3.544000	0.53640	2.520000	0.84964	0.655000	0.94253	CGT		PASS	0.692	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	17	4	17	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63923748	63923748	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:63923748C>T	ENST00000392769.2	-	19	2150	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	CEP112_ENST00000541355.1_Silent_p.K279K|CEP112_ENST00000535342.2_Silent_p.K644K|CEP112_ENST00000537949.1_Silent_p.K602K	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	644					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.K644K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATAAAAACTCCTTTGATTGTT	0.308																																						uc002jfl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1930-1932)AAG>AAA		coiled-coil domain containing 46 isoform a							99.0	95.0	96.0					17																	63923748		2203	4300	6503	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:63923748C>T	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1932G>A	17.37:g.63923748C>T						CCDC46_uc010deo.2_Silent_p.K386K|CCDC46_uc002jfm.2_Silent_p.K644K|CCDC46_uc010dep.2_Silent_p.K602K	p.K644K	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		19	2151	-			644			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.1932G>A	CCDS32710.1																																																																																				PASS	0.308	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		20	27	20	27	---	---	---	---
APOH	350	broad.mit.edu	37	17	64210728	64210728	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:64210728G>A	ENST00000205948.6	-	7	862	c.825C>T	c.(823-825)taC>taT	p.Y275Y		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	275	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.Y275Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTCTCCTTGGTACACCACAG	0.358																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)TAC>TAT		apolipoprotein H precursor							126.0	127.0	126.0					17																	64210728		2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64210728G>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.825C>T	17.37:g.64210728G>A							p.Y275Y	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		7	884	-			275			Sushi-like.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.825C>T	CCDS11663.1																																																																																				PASS	0.358	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		12	49	12	49	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65889712	65889712	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:65889712G>A	ENST00000321892.4	+	8	2721	c.2660G>A	c.(2659-2661)gGa>gAa	p.G887E	BPTF_ENST00000335221.5_Missense_Mutation_p.G887E|BPTF_ENST00000306378.6_Missense_Mutation_p.G761E|BPTF_ENST00000424123.3_Missense_Mutation_p.G748E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	887	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G887E(1)|p.G761E(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACTCCAGCAGGAGAGTTCAAA	0.428																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2281-2283)GGA>GAA		bromodomain PHD finger transcription factor							52.0	50.0	51.0					17																	65889712		2202	4279	6481	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889712G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2660G>A	17.37:g.65889712G>A	ENSP00000315454:p.Gly887Glu					BPTF_uc002jge.2_Missense_Mutation_p.G887E|BPTF_uc010wqm.1_Missense_Mutation_p.G824E	p.G761E	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2343	+	all_cancers(12;6e-11)		887			Interaction with MAZ.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2282G>A		.	.	.	.	.	.	.	.	.	.	G	16.03	3.006843	0.54361	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62941	0.0;-0.01;-0.0	5.61	5.61	0.85477	.	.	.	.	.	T	0.79575	0.4469	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	P;D;D	0.72075	0.738;0.973;0.976	T	0.80025	-0.1555	9	0.66056	D	0.02	-16.3082	20.0016	0.97412	0.0:0.0:1.0:0.0	.	887;761;887	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	E	792;761;887;887;685	ENSP00000307208:G761E;ENSP00000334351:G887E;ENSP00000315454:G887E	ENSP00000307208:G761E	G	+	2	0	BPTF	63320174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.517000	0.67061	2.802000	0.96397	0.655000	0.94253	GGA		PASS	0.428	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		10	32	10	32	---	---	---	---
WIPI1	55062	broad.mit.edu	37	17	66420657	66420657	+	Intron	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:66420657T>A	ENST00000262139.5	-	12	1293				RP11-120M18.2_ENST00000592030.1_RNA|MIR635_ENST00000384830.1_RNA|WIPI1_ENST00000546360.1_Intron|WIPI1_ENST00000589459.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTAATGGACATTGTTTCAGTG	0.507																																						hsa-mir-635|MI0003650																			0					0															101.0	93.0	96.0					17																	66420657		1568	3582	5150	SO:0001627	intron_variant	693220							g.chr17:66420657T>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.1293+1558A>T	17.37:g.66420657T>A						WIPI1_uc010dey.2_Intron|WIPI1_uc002jhd.3_Intron|WIPI1_uc010wqo.1_Intron|WIPI1_uc002jhe.3_Intron										-								Q8IXM5|Q9NWF8	RNA	SNP	ENST00000262139.5	37	c.33T>A	CCDS11677.1																																																																																				PASS	0.507	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		8	11	8	11	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67293357	67293357	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:67293357C>T	ENST00000392676.3	-	10	1475	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ABCA5_ENST00000588877.1_Missense_Mutation_p.E471K|ABCA5_ENST00000392677.2_Missense_Mutation_p.E471K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	471					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E471K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCTACAAATTCTGAAGAAACT	0.303																																						uc002jif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1411-1413)GAA>AAA		ATP-binding cassette, sub-family A , member 5							57.0	62.0	60.0					17																	67293357		2202	4295	6497	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67293357C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1411G>A	17.37:g.67293357C>T	ENSP00000376443:p.Glu471Lys					ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.E471K|ABCA5_uc002jih.2_Missense_Mutation_p.E471K|ABCA5_uc010dfe.2_Missense_Mutation_p.E471K	p.E471K	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			9	2629	-	Breast(10;3.72e-11)		471					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1411G>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428068	0.96131	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89270	-2.48;-2.49	5.34	5.34	0.76211	.	0.204155	0.34411	N	0.003996	D	0.93877	0.8041	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.92967	0.6394	9	.	.	.	.	19.407	0.94651	0.0:1.0:0.0:0.0	.	471;471	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	K	471	ENSP00000376444:E471K;ENSP00000376443:E471K	.	E	-	1	0	ABCA5	64804952	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.204000	0.77872	2.653000	0.90120	0.455000	0.32223	GAA		PASS	0.303	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		8	33	8	33	---	---	---	---
MAP2K6	5608	broad.mit.edu	37	17	67515456	67515456	+	Silent	SNP	G	G	T	rs573247318		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:67515456G>T	ENST00000590474.1	+	5	536	c.249G>T	c.(247-249)cgG>cgT	p.R83R	MAP2K6_ENST00000589647.1_Silent_p.R27R	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R83R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCATTCAGCGGATCCGAGCCA	0.458																																						uc002jij.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|pancreas(1)	5						c.(247-249)CGG>CGT		mitogen-activated protein kinase kinase 6							114.0	107.0	110.0					17																	67515456		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67515456G>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.249G>T	17.37:g.67515456G>T						MAP2K6_uc002jii.2_Silent_p.R83R|MAP2K6_uc002jik.2_Silent_p.R113R	p.R83R	NM_002758	NP_002749	P52564	MP2K6_HUMAN			5	537	+	Breast(10;6.05e-10)		83			Protein kinase.			Silent	SNP	ENST00000590474.1	37	c.249G>T	CCDS11686.1																																																																																				PASS	0.458	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		9	48	9	48	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71394475	71394475	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:71394475G>A	ENST00000392650.3	-	23	3187	c.3187C>T	c.(3187-3189)Ccc>Tcc	p.P1063S	SDK2_ENST00000388726.3_Missense_Mutation_p.P1063S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1063	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P1063S(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						CAGGTGAAGGGGTTGAGGTCG	0.637																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3187-3189)CCC>TCC		sidekick 2							80.0	81.0	81.0					17																	71394475		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71394475G>A	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.3187C>T	17.37:g.71394475G>A	ENSP00000376421:p.Pro1063Ser					SDK2_uc002jjt.3_Missense_Mutation_p.P222S|SDK2_uc010dfn.2_Missense_Mutation_p.P742S	p.P1063S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			23	3187	-			1063			Fibronectin type-III 5.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3187C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355074	0.82243	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.68479	-0.33;-0.33;-0.33	4.55	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.83852	2.665	0.80722	D	1	D;D;D	0.65815	0.995;0.975;0.969	D;D;D	0.74674	0.973;0.984;0.962	D	0.85884	0.1424	10	0.66056	D	0.02	.	17.4893	0.87699	0.0:0.0:1.0:0.0	.	1063;1063;1063	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	S	687;1063;1063;239;1063	ENSP00000376421:P1063S;ENSP00000373378:P1063S;ENSP00000407098:P239S	ENSP00000324967:P1063S	P	-	1	0	SDK2	68906070	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.532000	0.98057	2.361000	0.80049	0.462000	0.41574	CCC		PASS	0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		22	25	22	25	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72245532	72245532	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72245532C>T	ENST00000269346.4	+	8	998	c.924C>T	c.(922-924)ttC>ttT	p.F308F	TTYH2_ENST00000529107.1_Silent_p.F287F|TTYH2_ENST00000441391.2_5'UTR|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	308						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.F308F(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCAGCCCCTTCCAGCAGGTAT	0.612																																						uc002jkc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(922-924)TTC>TTT		tweety 2 isoform 1							129.0	120.0	123.0					17																	72245532		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72245532C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.924C>T	17.37:g.72245532C>T						TTYH2_uc010wqw.1_Silent_p.F287F|TTYH2_uc002jkd.2_5'UTR	p.F308F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			8	955	+			308			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.924C>T	CCDS32717.1																																																																																				PASS	0.612	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			26	37	26	37	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72249255	72249255	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72249255C>T	ENST00000269346.4	+	12	1369	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	TTYH2_ENST00000529107.1_Missense_Mutation_p.P411L|TTYH2_ENST00000441391.2_Missense_Mutation_p.P111L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	432						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.P432L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GATGATGACCCCTTTAACCCC	0.582																																						uc002jkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1294-1296)CCC>CTC		tweety 2 isoform 1							140.0	136.0	138.0					17																	72249255		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249255C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1295C>T	17.37:g.72249255C>T	ENSP00000269346:p.Pro432Leu					TTYH2_uc010wqw.1_Missense_Mutation_p.P411L|TTYH2_uc002jkd.2_Missense_Mutation_p.P111L	p.P432L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			12	1326	+			432			Cytoplasmic (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.1295C>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624828	0.87560	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.12774	2.65;2.65;2.65	4.51	4.51	0.55191	.	0.059296	0.64402	D	0.000002	T	0.43389	0.1245	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51317	-0.8721	10	0.59425	D	0.04	-38.5642	16.1501	0.81611	0.0:1.0:0.0:0.0	.	411;432	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	L	432;411;111	ENSP00000269346:P432L;ENSP00000433089:P411L;ENSP00000394576:P111L	ENSP00000269346:P432L	P	+	2	0	TTYH2	69760850	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.377000	0.79668	2.318000	0.78349	0.561000	0.74099	CCC		PASS	0.582	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			27	50	27	50	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72346967	72346967	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72346967G>A	ENST00000389916.4	+	12	1648	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	AC103809.2_ENST00000599136.1_Missense_Mutation_p.S115F	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	504					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.E504K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACATCCTGGAGCCACCCGA	0.622																																						uc002jkm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1510-1512)GAG>AAG		kinesin family member 19							121.0	119.0	120.0					17																	72346967		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346967G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1510G>A	17.37:g.72346967G>A	ENSP00000374566:p.Glu504Lys					KIF19_uc002jkj.2_Missense_Mutation_p.E504K|KIF19_uc002jkk.2_Missense_Mutation_p.E462K|KIF19_uc002jkl.2_Missense_Mutation_p.E462K	p.E504K	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			12	1648	+			504					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1510G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202934	0.79127	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74526	-0.85;-0.71	5.61	5.61	0.85477	.	.	.	.	.	D	0.85583	0.5730	M	0.71036	2.16	0.58432	D	0.999998	P;D;D;D	0.89917	0.952;1.0;0.998;0.998	P;D;D;D	0.77557	0.786;0.99;0.981;0.981	D	0.84447	0.0586	9	0.41790	T	0.15	.	18.4851	0.90825	0.0:0.0:1.0:0.0	.	504;462;462;504	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	K	462;504	ENSP00000449134:E462K;ENSP00000374566:E504K	ENSP00000374566:E504K	E	+	1	0	KIF19	69858562	1.000000	0.71417	0.975000	0.42487	0.023000	0.10783	6.689000	0.74562	2.660000	0.90430	0.645000	0.84053	GAG		PASS	0.622	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		17	44	17	44	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72351329	72351329	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72351329G>A	ENST00000389916.4	+	20	3013	c.2875G>A	c.(2875-2877)Gac>Aac	p.D959N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	959					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.D959N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGGCCCGGGGGACTCCTCACC	0.652																																						uc002jkm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2875-2877)GAC>AAC		kinesin family member 19							45.0	51.0	49.0					17																	72351329		1948	4128	6076	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72351329G>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2875G>A	17.37:g.72351329G>A	ENSP00000374566:p.Asp959Asn						p.D959N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			20	3013	+			959					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2875G>A	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	8.081	0.772348	0.16051	.	.	ENSG00000196169	ENST00000389916	T	0.71341	-0.56	4.71	2.7	0.31948	.	.	.	.	.	T	0.50718	0.1632	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	9	0.16420	T	0.52	.	7.7051	0.28646	0.2001:0.0:0.7999:0.0	.	959	Q2TAC6	KIF19_HUMAN	N	959	ENSP00000374566:D959N	ENSP00000374566:D959N	D	+	1	0	KIF19	69862924	0.056000	0.20664	0.008000	0.14137	0.276000	0.26787	0.878000	0.28126	0.597000	0.29811	-0.300000	0.09419	GAC		PASS	0.652	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		14	13	14	13	---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72541058	72541058	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72541058G>A	ENST00000330793.1	-	2	450	c.90C>T	c.(88-90)acC>acT	p.T30T		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	30	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.T30T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGCCCGCCACGGTCATGGGGT	0.577																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(88-90)ACC>ACT		CD300C antigen precursor							38.0	44.0	42.0					17																	72541058		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541058G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.90C>T	17.37:g.72541058G>A							p.T30T	NM_006678	NP_006669	Q08708	CLM6_HUMAN			2	451	-			30			Extracellular (Potential).|Ig-like V-type.			Silent	SNP	ENST00000330793.1	37	c.90C>T	CCDS11701.1																																																																																				PASS	0.577	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		5	13	5	13	---	---	---	---
CD300E	342510	broad.mit.edu	37	17	72613441	72613441	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72613441C>T	ENST00000328630.3	-	2	244	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CD300E_ENST00000392619.1_Silent_p.E95E|CD300E_ENST00000426295.2_Silent_p.E109E			Q496F6	CLM2_HUMAN	CD300e molecule	68	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E68E(1)|p.E109E(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTCCACCTTCTCTTCTCCCT	0.522																																						uc002jlb.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|large_intestine(1)|ovary(1)	4						c.(202-204)GAG>GAA		CD300e molecule precursor							254.0	162.0	193.0					17																	72613441		2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613441C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.204G>A	17.37:g.72613441C>T							p.E68E	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			2	245	-			68			Ig-like V-type.|Extracellular (Potential).		B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.204G>A	CCDS11702.1																																																																																				PASS	0.522	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		15	32	15	32	---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72791233	72791233	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72791233C>T	ENST00000335464.5	+	7	672	c.510C>T	c.(508-510)tcC>tcT	p.S170S	TMEM104_ENST00000582773.1_Silent_p.S170S|TMEM104_ENST00000417024.2_Silent_p.S183S|TMEM104_ENST00000582330.1_Silent_p.S170S	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	170						integral component of membrane (GO:0016021)		p.S170S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGCCCTTCTCCCTCATGCAGG	0.572																																						uc002jls.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)TCC>TCT		transmembrane protein 104							166.0	135.0	146.0					17																	72791233		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72791233C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.510C>T	17.37:g.72791233C>T						TMEM104_uc010wrf.1_Silent_p.S170S|TMEM104_uc010wrg.1_Silent_p.S183S|TMEM104_uc010dfx.2_Silent_p.S170S	p.S170S	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			7	672	+	all_lung(278;0.23)		170			Extracellular (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.510C>T	CCDS32723.1																																																																																				PASS	0.572	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		15	29	15	29	---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72832361	72832361	+	Silent	SNP	C	C	T	rs562626910		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72832361C>T	ENST00000335464.5	+	10	1188	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.F342F	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	342						integral component of membrane (GO:0016021)		p.F342F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CCCTCAACTTCGCGCGCTGTG	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		17971	0.0		0.0	False		,,,				2504	0.001					uc002jls.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1024-1026)TTC>TTT		transmembrane protein 104							288.0	225.0	247.0					17																	72832361		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72832361C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1026C>T	17.37:g.72832361C>T						TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.F342F	p.F342F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			10	1188	+	all_lung(278;0.23)		342			Extracellular (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.1026C>T	CCDS32723.1																																																																																				PASS	0.612	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		35	100	35	100	---	---	---	---
FADS6	283985	broad.mit.edu	37	17	72888659	72888659	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72888659G>A	ENST00000310226.6	-	2	362	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	122					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.F121F(1)|p.F116F(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCCACAAAGAAAAGCAGCC	0.597																																						uc002jmd.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(346-348)TTC>TTT		fatty acid desaturase domain family, member 6							47.0	51.0	50.0					17																	72888659		2137	4246	6383	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72888659G>A	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.348C>T	17.37:g.72888659G>A							p.F116F	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			2	360	-	all_lung(278;0.172)|Lung NSC(278;0.207)		122			Helical; (Potential).		Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.348C>T	CCDS54163.1																																																																																				PASS	0.597	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			4	19	4	19	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72929487	72929487	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:72929487C>T	ENST00000580223.1	+	6	1566	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	OTOP2_ENST00000331427.4_Silent_p.A512A|OTOP3_ENST00000328801.4_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	512						integral component of membrane (GO:0016021)		p.A512A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCATGCCTGCCTTCGGGGCCC	0.582																																						uc010wrp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1534-1536)GCC>GCT		otopetrin 2							129.0	106.0	113.0					17																	72929487		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72929487C>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1536C>T	17.37:g.72929487C>T						OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank	p.A512A	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			8	1625	+	all_lung(278;0.172)|Lung NSC(278;0.207)		512			Helical; (Potential).			Silent	SNP	ENST00000580223.1	37	c.1536C>T	CCDS11708.1																																																																																				PASS	0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		22	48	22	48	---	---	---	---
TRIM47	91107	broad.mit.edu	37	17	73870748	73870748	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:73870748G>A	ENST00000254816.2	-	6	1759	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.S340F	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	578	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S578F(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGGGGCCGGGAGGCCTTCAG	0.662																																						uc002jpw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1732-1734)TCC>TTC		tripartite motif-containing 47							28.0	35.0	33.0					17																	73870748		2202	4299	6501	SO:0001583	missense	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870748G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1733C>T	17.37:g.73870748G>A	ENSP00000254816:p.Ser578Phe					TRIM47_uc002jpv.2_Missense_Mutation_p.S340F	p.S578F	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1760	-			578			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Missense_Mutation	SNP	ENST00000254816.2	37	c.1733C>T	CCDS32737.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409750	0.62399	.	.	ENSG00000132481	ENST00000254816	T	0.46063	0.88	5.18	5.18	0.71444	B30.2/SPRY domain (1);	0.236527	0.30565	N	0.009342	T	0.46054	0.1373	L	0.42245	1.32	0.35883	D	0.829083	P	0.47484	0.896	P	0.48524	0.58	T	0.59685	-0.7408	10	0.87932	D	0	.	15.7957	0.78409	0.0:0.136:0.864:0.0	.	578	Q96LD4	TRI47_HUMAN	F	578	ENSP00000254816:S578F	ENSP00000254816:S578F	S	-	2	0	TRIM47	71382343	0.997000	0.39634	0.996000	0.52242	0.782000	0.44232	3.555000	0.53727	2.426000	0.82243	0.561000	0.74099	TCC		PASS	0.662	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			13	11	13	11	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74387585	74387585	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:74387585G>A	ENST00000319380.7	-	18	3382	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1106					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I1106I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACCACGCGGATCAGCGCCA	0.577																																						uc002jrm.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(3316-3318)ATC>ATT		ubiquitin-conjugating enzyme E2O							104.0	99.0	101.0					17																	74387585		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387585G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3318C>T	17.37:g.74387585G>A						UBE2O_uc002jrl.3_Silent_p.I710I	p.I1106I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			18	3383	-			1106					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3318C>T	CCDS32742.1																																																																																				PASS	0.577	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		14	35	14	35	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74622468	74622468	+	Missense_Mutation	SNP	G	G	A	rs538778072		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:74622468G>A	ENST00000156626.7	-	6	1517	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	440					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.R440C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCAAGTAGCGGACGTCCTGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22451	0.001		0.0	False		,,,				2504	0.0					uc002jsh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)CGC>TGC		sialyltransferase 7A							77.0	64.0	68.0					17																	74622468		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622468G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1318C>T	17.37:g.74622468G>A	ENSP00000156626:p.Arg440Cys					ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.R308C|ST6GALNAC1_uc002jsj.2_Intron	p.R440C	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			6	1492	-			440			Lumenal (Potential).		Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1318C>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704354	0.68615	.	.	ENSG00000070526	ENST00000156626	T	0.32272	1.46	5.28	4.29	0.51040	.	0.212952	0.36740	N	0.002437	T	0.54464	0.1860	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58370	-0.7648	10	0.87932	D	0	-22.5778	8.0317	0.30470	0.081:0.0:0.6658:0.2532	.	440	Q9NSC7	SIA7A_HUMAN	C	440	ENSP00000156626:R440C	ENSP00000156626:R440C	R	-	1	0	ST6GALNAC1	72134063	1.000000	0.71417	0.990000	0.47175	0.966000	0.64601	1.509000	0.35780	1.341000	0.45600	0.655000	0.94253	CGC		PASS	0.552	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		7	30	7	30	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74928785	74928785	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:74928785G>A	ENST00000569840.2	+	11	1924	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	MGAT5B_ENST00000301618.4_Silent_p.E450E|MGAT5B_ENST00000428789.2_Silent_p.E461E	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	450					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.E450E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGAGACGGAGAAGCGGCTCA	0.632																																						uc002jti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1381-1383)GAG>GAA		N-acetylglucosaminyltranferase VB isoform 2							103.0	87.0	92.0					17																	74928785		2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928785G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1350G>A	17.37:g.74928785G>A						MGAT5B_uc002jth.2_Silent_p.E450E	p.E461E	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			10	1486	+			450			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1383G>A	CCDS59299.1																																																																																				PASS	0.632	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		17	25	17	25	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74942448	74942448	+	Intron	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:74942448C>T	ENST00000569840.2	+	16	2422				MGAT5B_ENST00000301618.4_Intron|MGAT5B_ENST00000428789.2_Intron	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B						protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCCCATCCCTCCCACAGG	0.657																																						uc002jtj.2																			1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.(52-54)TCC>TCT		RecName: Full=Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B;          EC=2.4.1.155;          EC=2.4.1.-; AltName: Full=Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B; AltName: Full=Mannoside acetylglucosaminyltransferase 5B; AltName: Full=N-acetylglucosaminyl-transferase Vb; AltName: Full=GlcNAc-T Vb;          Short=hGnTVb;          Short=GNT-Vb; AltName: Full=N-acetylglucosaminyltransferase IX;          Short=GNT-IX;							77.0	53.0	61.0					17																	74942448		2203	4300	6503	SO:0001627	intron_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74942448C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1849-10C>T	17.37:g.74942448C>T						MGAT5B_uc002jth.2_Intron|MGAT5B_uc002jti.2_Intron	p.S18S			Q3V5L5	MGT5B_HUMAN			1	117	+			Error:Variant_position_missing_in_Q3V5L5_after_alignment					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.54C>T	CCDS59299.1																																																																																				PASS	0.657	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		9	5	9	5	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76435281	76435281	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76435281G>A	ENST00000585328.1	-	73	11805	c.11681C>T	c.(11680-11682)aCc>aTc	p.T3894I	DNAH17_ENST00000389840.5_Missense_Mutation_p.T3885I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3885	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T3894I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATTGTCTATGGTAAACCCTAG	0.463																																						uc010dhp.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(2695-2697)ACC>ATC		SubName: Full=DNAH17 variant protein; Flags: Fragment;							55.0	50.0	52.0					17																	76435281		2203	4299	6502	SO:0001583	missense	8632							g.chr17:76435281G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11681C>T	17.37:g.76435281G>A	ENSP00000465516:p.Thr3894Ile					DNAH17_uc002jvq.2_Missense_Mutation_p.T184I|DNAH17_uc002jvs.2_RNA	p.T899I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		18	2918	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.2696C>T		.	.	.	.	.	.	.	.	.	.	G	28.9	4.960925	0.92791	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25912	1.77	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000012	T	0.43299	0.1241	M	0.85945	2.785	0.58432	D	0.999999	P	0.46020	0.871	P	0.44673	0.457	T	0.54708	-0.8253	10	0.87932	D	0	.	18.6943	0.91594	0.0:0.0:1.0:0.0	.	3894	E7EUM8	.	I	3894;3885	ENSP00000374490:T3885I	ENSP00000300671:T3894I	T	-	2	0	DNAH17	73946876	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.844000	0.86867	2.502000	0.84385	0.655000	0.94253	ACC		PASS	0.463	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		9	10	9	10	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76455988	76455988	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76455988C>T	ENST00000585328.1	-	60	9640	c.9516G>A	c.(9514-9516)aaG>aaA	p.K3172K	DNAH17_ENST00000389840.5_Silent_p.K3163K|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3163	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3172K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGGGGATCTTGCCCCCAG	0.582																																						uc010dhp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(529-531)AAG>AAA		SubName: Full=DNAH17 variant protein; Flags: Fragment;							113.0	85.0	94.0					17																	76455988		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76455988C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9516G>A	17.37:g.76455988C>T						DNAH17_uc002jvs.2_RNA	p.K177K					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		5	753	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.531G>A																																																																																					PASS	0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		8	33	8	33	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76547628	76547629	+	Nonsense_Mutation	DNP	GG	GG	AA	rs368899989		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76547628_76547629GG>AA	ENST00000585328.1	-	16	2503_2504	c.2379_2380CC>TT	c.(2377-2382)tcCCag>tcTTag	p.Q794*	DNAH17_ENST00000389840.5_Nonsense_Mutation_p.Q794*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	794	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q794*(2)|p.S793S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCATAGCCTGGGAAATTCCTT	0.505																																						uc002jvv.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|breast(2)|skin(1)	9						c.(1486-1488)CAG>TAG|c.(1483-1485)TCC>TCT		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;																																				SO:0001587	stop_gained	8632							g.chr17:76547628G>A|g.chr17:76547629G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2379_2380delinsAA	17.37:g.76547628_76547629delinsAA	ENSP00000465516:p.Gln794*						p.Q496*|p.S495S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	1592|1591	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation|Silent	SNP	ENST00000585328.1	37	c.1486C>T|c.1485C>T																																																																																					PASS	0.505	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		6|7	33	6	33	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76557905	76557905	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76557905G>A	ENST00000585328.1	-	12	1851	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	DNAH17_ENST00000389840.5_Missense_Mutation_p.P576L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	576	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P576L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGATCAGGGGGATGTTCCC	0.567																																						uc002jvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(832-834)CCC>CTC		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;																																				SO:0001583	missense	8632							g.chr17:76557905G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1727C>T	17.37:g.76557905G>A	ENSP00000465516:p.Pro576Leu						p.P278L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	939	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.833C>T		.	.	.	.	.	.	.	.	.	.	G	11.63	1.696260	0.30052	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.58358	0.34	5.22	5.22	0.72569	.	.	.	.	.	T	0.49372	0.1553	L	0.34521	1.04	0.51767	D	0.999938	P	0.46395	0.877	P	0.47044	0.535	T	0.38628	-0.9652	9	0.25751	T	0.34	.	16.5647	0.84576	0.0:0.0:1.0:0.0	.	278	Q9UFH2-4	.	L	576	ENSP00000374490:P576L	ENSP00000300671:P576L	P	-	2	0	DNAH17	74069500	1.000000	0.71417	0.975000	0.42487	0.125000	0.20455	4.911000	0.63328	2.427000	0.82271	0.557000	0.71058	CCC		PASS	0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	29	5	29	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76565307	76565308	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76565307_76565308GG>AA	ENST00000585328.1	-	9	1348_1349	c.1224_1225CC>TT	c.(1222-1227)ttCCct>ttTTct	p.P409S	DNAH17_ENST00000389840.5_Missense_Mutation_p.P409S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	409	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P409S(2)|p.F408F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGAGAAGAAGGGAATTCCCAAG	0.47																																						uc002jvv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|breast(2)|skin(1)	9						c.(331-333)CCT>TCT|c.(328-330)TTC>TTT		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;																																				SO:0001583	missense	8632							g.chr17:76565307G>A|g.chr17:76565308G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1224_1225delinsAA	17.37:g.76565307_76565308delinsAA	ENSP00000465516:p.Pro409Ser						p.P111S|p.F110F					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		5	437|436	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation|Silent	SNP	ENST00000585328.1	37	c.331C>T|c.330C>T																																																																																					PASS	0.470	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	13|15	5	13	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76831522	76831522	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:76831522G>A	ENST00000542802.3	-	4	758	c.315C>T	c.(313-315)ttC>ttT	p.F105F	USP36_ENST00000312010.6_Silent_p.F105F|USP36_ENST00000589424.1_Silent_p.F105F|USP36_ENST00000590546.2_Silent_p.F105F			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	105					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.F105F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCTCCGTGGGGAAAAGCACTT	0.582																																						uc002jvz.1																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(313-315)TTC>TTT		ubiquitin specific peptidase 36							83.0	63.0	70.0					17																	76831522		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831522G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.315C>T	17.37:g.76831522G>A						USP36_uc002jwa.1_Silent_p.F105F|USP36_uc002jwd.1_Silent_p.F105F	p.F105F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	640	-			105					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.315C>T	CCDS32755.1																																																																																				PASS	0.582	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		10	10	10	10	---	---	---	---
CBX2	84733	broad.mit.edu	37	17	77755583	77755583	+	Missense_Mutation	SNP	C	C	T	rs375170872		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:77755583C>T	ENST00000310942.4	+	4	375	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	CBX2_ENST00000269399.5_Missense_Mutation_p.R91W	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	91	Ser-rich.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R91W(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCTGCAGCCGGCGCTCCAA	0.657																																						uc002jxc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(271-273)CGG>TGG		chromobox homolog 2 isoform 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	46.0	56.0	53.0		271,271	4.2	1.0	17		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CBX2	NM_005189.2,NM_032647.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	91/533,91/212	77755583	1,13005	2203	4300	6503	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77755583C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.271C>T	17.37:g.77755583C>T	ENSP00000308750:p.Arg91Trp					CBX2_uc002jxb.1_Missense_Mutation_p.R91W	p.R91W	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	313	+			91			Ser-rich.		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.271C>T	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462814	0.43736	0.0	1.16E-4	ENSG00000173894	ENST00000310942;ENST00000269399	.	.	.	5.25	4.19	0.49359	.	.	.	.	.	T	0.32585	0.0834	N	0.24115	0.695	0.37464	D	0.915338	B;D	0.54772	0.394;0.968	B;B	0.42798	0.059;0.398	T	0.32025	-0.9922	8	0.66056	D	0.02	.	7.4511	0.27240	0.1782:0.7275:0.0:0.0944	.	91;91	Q14781;Q14781-2	CBX2_HUMAN;.	W	91	.	ENSP00000269399:R91W	R	+	1	2	CBX2	75370178	1.000000	0.71417	0.972000	0.41901	0.061000	0.15899	1.080000	0.30779	2.430000	0.82344	0.655000	0.94253	CGG		PASS	0.657	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		10	18	10	18	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77924299	77924299	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:77924299C>T	ENST00000310924.2	-	6	1283	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	TBC1D16_ENST00000572862.1_Missense_Mutation_p.E28K|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E29K|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E28K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E29K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	390							Rab GTPase activator activity (GO:0005097)	p.E390K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TACATGCTCTCCTCGGGGTGC	0.642																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)GAG>AAG		TBC1 domain family, member 16							47.0	41.0	43.0					17																	77924299		2203	4300	6503	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77924299C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1168G>A	17.37:g.77924299C>T	ENSP00000309794:p.Glu390Lys					TBC1D16_uc002jxh.2_Missense_Mutation_p.E28K|TBC1D16_uc002jxi.2_Missense_Mutation_p.E29K|TBC1D16_uc002jxk.1_Missense_Mutation_p.E28K	p.E390K	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		6	1284	-	all_neural(118;0.167)		390					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1168G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933168	0.97116	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.09538	3.19;2.97	5.47	5.47	0.80525	.	0.106709	0.64402	D	0.000005	T	0.38427	0.1040	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.997;1.0	D;D;D;D	0.74348	0.979;0.947;0.947;0.983	T	0.16188	-1.0411	10	0.48119	T	0.1	-38.6513	19.325	0.94258	0.0:1.0:0.0:0.0	.	50;390;390;28	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	K	28;390	ENSP00000341517:E28K;ENSP00000309794:E390K	ENSP00000309794:E390K	E	-	1	0	TBC1D16	75538894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.642000	0.83385	2.543000	0.85770	0.655000	0.94253	GAG		PASS	0.642	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		3	8	3	8	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78282825	78282825	+	Missense_Mutation	SNP	G	G	A	rs377041958		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:78282825G>A	ENST00000582970.1	+	14	2652	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	RNF213_ENST00000456466.1_Missense_Mutation_p.E837K|RNF213_ENST00000319921.4_Missense_Mutation_p.E837K|RNF213_ENST00000508628.2_Missense_Mutation_p.E886K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	837					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E837*(4)|p.E886*(2)|p.E837K(2)|p.E886K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGGATTCCCGAGGAGGCCTT	0.478																																						uc002jyf.2																			9	Substitution - Nonsense(6)|Substitution - Missense(3)		lung(9)								c.(2509-2511)GAG>AAG		hypothetical protein LOC57714		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	116.0	111.0	113.0		2509,2656	-4.5	0.0	17		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RNF213	NM_020954.2,NM_020914.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	837/1064,886/5257	78282825	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr17:78282825G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2509G>A	17.37:g.78282825G>A	ENSP00000464087:p.Glu837Lys					uc002jyg.1_Missense_Mutation_p.E568K	p.E837K	NM_020954	NP_066005					14	2652	+								C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.2509G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377465	0.24944	0.0	1.16E-4	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.13420	2.59;2.59	4.96	-4.46	0.03536	.	0.905605	0.09401	N	0.807232	T	0.08403	0.0209	L	0.28740	0.885	0.09310	N	1	B;B	0.26902	0.045;0.163	B;B	0.22880	0.019;0.042	T	0.38499	-0.9658	10	0.23302	T	0.38	-18.0606	10.3441	0.43895	0.1624:0.6357:0.2019:0.0	.	837;837	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	K	837;886;837;837	ENSP00000392123:E837K;ENSP00000324392:E837K	ENSP00000324392:E837K	E	+	1	0	RNF213	75897420	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.171000	0.09883	-0.464000	0.06963	-0.885000	0.02943	GAG		PASS	0.478	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		15	61	15	61	---	---	---	---
CHMP6	79643	broad.mit.edu	37	17	78969519	78969519	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:78969519G>A	ENST00000325167.5	+	4	387	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	103					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)	p.G103G(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGATGGAGGGGCTGCAGTTTG	0.567																																						uc002jyw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(307-309)GGG>GGA		chromatin modifying protein 6							111.0	98.0	102.0					17																	78969519		2203	4300	6503	SO:0001819	synonymous_variant	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78969519G>A	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.309G>A	17.37:g.78969519G>A							p.G103G	NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		4	387	+	all_neural(118;0.101)		103			Potential.		A8K7U0|Q53FU4|Q9HAE8	Silent	SNP	ENST00000325167.5	37	c.309G>A	CCDS11774.1																																																																																				PASS	0.567	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		22	38	22	38	---	---	---	---
SLC38A10	124565	broad.mit.edu	37	17	79263498	79263498	+	Silent	SNP	G	G	A	rs369470157		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:79263498G>A	ENST00000374759.3	-	2	593	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SLC38A10_ENST00000288439.5_Silent_p.A70A	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	70					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A70A(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCCAGGCCGGCGTAGGTCC	0.552																																						uc002jzz.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(208-210)GCC>GCT		solute carrier family 38, member 10 isoform a		G	,	0,4406		0,0,2203	43.0	39.0	40.0		210,210	-9.6	0.7	17		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC38A10	NM_001037984.1,NM_138570.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	70/1120,70/781	79263498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79263498G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.210C>T	17.37:g.79263498G>A						SLC38A10_uc002kab.2_Silent_p.A70A	p.A70A	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	585	-	all_neural(118;0.0804)|Melanoma(429;0.242)		70					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.210C>T	CCDS42397.1																																																																																				PASS	0.552	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		10	14	10	14	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79478502	79478502	+	Missense_Mutation	SNP	G	G	A	rs11549192		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:79478502G>A	ENST00000575842.1	-	3	940	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	ACTG1_ENST00000573283.1_Missense_Mutation_p.P172S|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.P172S|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.P172S			P63261	ACTG_HUMAN	actin, gamma 1	172					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.P172S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ATGGCGTGGGGGAGGGCGTAG	0.647																																						uc002kaj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(514-516)CCC>TCC		actin, gamma 1 propeptide							46.0	51.0	50.0					17																	79478502		2202	4300	6502	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478502G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.514C>T	17.37:g.79478502G>A	ENSP00000458162:p.Pro172Ser					ACTG1_uc002kah.1_Missense_Mutation_p.P50S|ACTG1_uc002kai.1_Missense_Mutation_p.P129S|ACTG1_uc002kak.1_Missense_Mutation_p.P172S|ACTG1_uc010wun.1_Missense_Mutation_p.P172S|ACTG1_uc002kal.1_Missense_Mutation_p.P172S|ACTG1_uc002kag.2_RNA	p.P172S	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	539	-	all_neural(118;0.0878)|Melanoma(429;0.242)		172					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.514C>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	g	17.31	3.357437	0.61293	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94184	-3.37	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000001	D	0.97387	0.9145	M	0.93106	3.38	0.54753	D	0.999989	D	0.60575	0.988	D	0.77557	0.99	D	0.98588	1.0653	10	0.87932	D	0	.	16.2373	0.82384	0.0:0.0:1.0:0.0	.	172	P63261	ACTG_HUMAN	S	172;130	ENSP00000331514:P172S	ENSP00000331514:P172S	P	-	1	0	ACTG1	77093097	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	9.380000	0.97202	2.120000	0.65058	0.558000	0.71614	CCC		PASS	0.647	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		21	30	21	30	---	---	---	---
NPLOC4	55666	broad.mit.edu	37	17	79596825	79596825	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:79596825G>A	ENST00000331134.6	-	2	237	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R8C	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	8					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R8C(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GACTGGACACGAATTATCTGT	0.463																																						uc002kat.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(22-24)CGT>TGT		nuclear protein localization 4							177.0	176.0	176.0					17																	79596825		2002	4181	6183	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79596825G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.22C>T	17.37:g.79596825G>A	ENSP00000331487:p.Arg8Cys					NPLOC4_uc002kau.3_Missense_Mutation_p.R8C|NPLOC4_uc010wur.1_5'UTR	p.R8C	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	204	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		8					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.22C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912566	0.72983	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	4.28	4.28	0.50868	Nuclear pore localisation protein Npl4, ubiquitin-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83416	0.0030	9	0.87932	D	0	-14.1978	16.6546	0.85225	0.0:0.0:1.0:0.0	.	8;8	Q8TAT6-2;Q8TAT6	.;NPL4_HUMAN	C	8;7	.	ENSP00000331487:R8C	R	-	1	0	NPLOC4	77207230	1.000000	0.71417	0.912000	0.35992	0.696000	0.40369	5.580000	0.67464	2.077000	0.62373	0.655000	0.94253	CGT		PASS	0.463	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			19	62	19	62	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79682059	79682059	+	Missense_Mutation	SNP	T	T	G	rs141074608		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:79682059T>G	ENST00000350690.5	+	2	256	c.170T>G	c.(169-171)aTc>aGc	p.I57S	SLC25A10_ENST00000571730.1_Missense_Mutation_p.I212S|SLC25A10_ENST00000545862.1_Missense_Mutation_p.I14S|SLC25A10_ENST00000541223.1_Missense_Mutation_p.I212S|SLC25A10_ENST00000331531.5_Missense_Mutation_p.I57S	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	57					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.I57N(1)|p.I57S(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	ACCGACGGCATCCTGGCACTC	0.662																																						uc002kbi.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(169-171)ATC>AGC		solute carrier family 25 (mitochondrial carrier;	Succinic acid(DB00139)						57.0	41.0	47.0					17																	79682059		2199	4299	6498	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682059T>G		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.170T>G	17.37:g.79682059T>G	ENSP00000345580:p.Ile57Ser					SLC25A10_uc010wut.1_Missense_Mutation_p.I212S|SLC25A10_uc010dif.2_Missense_Mutation_p.I57S|SLC25A10_uc010wuu.1_Missense_Mutation_p.I11S	p.I57S	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		2	256	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		57			Solcar 1.		Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.170T>G	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521326	0.44866	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	4.5	4.5	0.54988	Mitochondrial carrier domain (2);	0.579750	0.15879	N	0.240151	T	0.81588	0.4854	M	0.79123	2.44	0.26585	N	0.973307	B;B;B	0.26547	0.152;0.125;0.066	B;B;B	0.29353	0.101;0.059;0.098	T	0.75938	-0.3141	10	0.59425	D	0.04	-8.4737	13.4843	0.61355	0.0:0.0:0.0:1.0	.	212;57;57	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	S	212;57;57;14	ENSP00000439565:I212S;ENSP00000328403:I57S;ENSP00000345580:I57S;ENSP00000446242:I14S	ENSP00000328403:I57S	I	+	2	0	SLC25A10	77292464	0.933000	0.31639	0.762000	0.31397	0.179000	0.23085	5.627000	0.67784	1.675000	0.50919	0.459000	0.35465	ATC		PASS	0.662	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			4	16	4	16	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79914614	79914614	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:79914614C>T	ENST00000409678.3	-	8	1283	c.900G>A	c.(898-900)ggG>ggA	p.G300G		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	300						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.G234G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCGGGACCACCCCGTTCCAGT	0.672																																						uc010wvg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(898-900)GGG>GGA		notum pectinacetylesterase homolog precursor							29.0	25.0	26.0					17																	79914614		2203	4294	6497	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79914614C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.900G>A	17.37:g.79914614C>T							p.G300G	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		8	1172	-	all_neural(118;0.0878)|Ovarian(332;0.12)		300					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.900G>A	CCDS32771.2																																																																																				PASS	0.672	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		5	9	5	9	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80045900	80045900	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:80045900G>A	ENST00000306749.2	-	18	3014	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	932					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S932S(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTACCTCCAGGGACACTGTCC	0.667																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2794-2796)TCC>TCT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						50.0	51.0	51.0					17																	80045900		2202	4299	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045900G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2796C>T	17.37:g.80045900G>A						FASN_uc002kdw.1_Silent_p.S148S	p.S932S	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		18	2913	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		932					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2796C>T	CCDS11801.1																																																																																				PASS	0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	17	10	17	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80788605	80788605	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:80788605C>T	ENST00000269394.3	-	3	2418	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E130K|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	529					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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.E529K(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TACGTGGGTTCGTGGGTGGCT	0.617																																						uc002kga.2																			2	Substitution - Missense(2)		NS(1)|lung(1)	central_nervous_system(1)	1						c.(1585-1587)GAA>AAA		zinc finger protein 750							42.0	46.0	45.0					17																	80788605		2193	4274	6467	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788605C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1585G>A	17.37:g.80788605C>T	ENSP00000269394:p.Glu529Lys					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.E529K	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	1896	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	529					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.1585G>A	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	9.112	1.006776	0.19199	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.13538	2.58	4.64	-1.47	0.08772	.	1.448080	0.04573	N	0.393604	T	0.06325	0.0163	N	0.04959	-0.14	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38286	-0.9668	9	.	.	.	-0.0473	6.169	0.20406	0.1288:0.6557:0.0:0.2155	.	529	Q32MQ0	ZN750_HUMAN	K	529;122	ENSP00000269394:E529K	.	E	-	1	0	ZNF750	78381894	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.281000	0.18810	-0.624000	0.05611	-0.137000	0.14449	GAA		PASS	0.617	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		10	29	10	29	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789461	80789461	+	Silent	SNP	C	C	T	rs117000095	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:80789461C>T	ENST00000269394.3	-	2	1703	c.870G>A	c.(868-870)ccG>ccA	p.P290P	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	290					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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.P290P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTAGGGATCGGCCCCGGGT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		16038	0.001		0.0	False		,,,				2504	0.001					uc002kga.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(868-870)CCG>CCA		zinc finger protein 750							148.0	161.0	157.0					17																	80789461		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80789461C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.870G>A	17.37:g.80789461C>T						TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.P290P	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1181	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	290					Q9H899	Silent	SNP	ENST00000269394.3	37	c.870G>A	CCDS11819.1																																																																																				PASS	0.577	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		43	64	43	64	---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80828254	80828254	+	Silent	SNP	G	G	A	rs527893726		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:80828254G>A	ENST00000355528.4	+	14	1603	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S	TBCD_ENST00000397466.2_Silent_p.S105S|TBCD_ENST00000539345.2_Silent_p.S491S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	491					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.S491S(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCAATCTCGAGGTAGGCCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		21026	0.001		0.0	False		,,,				2504	0.0					uc002kfz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1471-1473)TCG>TCA		beta-tubulin cofactor D							27.0	31.0	30.0					17																	80828254		2136	4237	6373	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828254G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1473G>A	17.37:g.80828254G>A						TBCD_uc002kfx.1_Silent_p.S474S|TBCD_uc002kfy.1_Silent_p.S491S	p.S491S	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1603	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	491					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1473G>A	CCDS45818.1																																																																																				PASS	0.632	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		10	10	10	10	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	346394	346394	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:346394A>G	ENST00000400256.3	-	5	1435	c.1228T>C	c.(1228-1230)Tta>Cta	p.L410L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	410					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.L410L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCAGTGTCTAACCTCGACCTC	0.413																																						uc002kkm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1228-1230)TTA>CTA		collectin sub-family member 12							143.0	127.0	132.0					18																	346394		2203	4300	6503	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346394A>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1228T>C	18.37:g.346394A>G							p.L410L	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1443	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	410			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.1228T>C	CCDS32782.1																																																																																				PASS	0.413	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			16	42	16	42	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2892287	2892287	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:2892287G>A	ENST00000254528.3	+	4	2321	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	721					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.G721E(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCTATCTCAGGAAATCTTCAG	0.542																																						uc002kln.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2161-2163)GGA>GAA		elastin microfibril interfacer 2 precursor							70.0	71.0	71.0					18																	2892287		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892287G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2162G>A	18.37:g.2892287G>A	ENSP00000254528:p.Gly721Glu						p.G721E	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2321	+			721					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2162G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	8.453	0.853630	0.17106	.	.	ENSG00000132205	ENST00000254528	T	0.30182	1.54	5.48	4.61	0.57282	.	0.229734	0.37809	N	0.001928	T	0.32255	0.0823	L	0.48986	1.54	0.09310	N	0.999998	P	0.46020	0.871	P	0.44811	0.461	T	0.13202	-1.0518	10	0.23302	T	0.38	-21.0855	14.1602	0.65441	0.0722:0.0:0.9278:0.0	.	721	Q9BXX0	EMIL2_HUMAN	E	721	ENSP00000254528:G721E	ENSP00000254528:G721E	G	+	2	0	EMILIN2	2882287	0.800000	0.28916	0.004000	0.12327	0.066000	0.16364	1.649000	0.37281	1.311000	0.45024	0.563000	0.77884	GGA		PASS	0.542	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		19	24	19	24	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T	rs570677625		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:3155065C>T	ENST00000356443.4	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E|MYOM1_ENST00000400569.3_Missense_Mutation_p.G508E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	508					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.001					uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1522-1524)GGA>GAA		myomesin 1 isoform a							48.0	48.0	48.0					18																	3155065		1986	4158	6144	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3155065C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1523G>A	18.37:g.3155065C>T	ENSP00000348821:p.Gly508Glu					MYOM1_uc002klq.2_Missense_Mutation_p.G508E	p.G508E	NM_003803	NP_003794	P52179	MYOM1_HUMAN			11	1857	-			508					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1523G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601352	0.87055	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.60299	0.2;0.2;0.2	4.88	4.88	0.63580	Fibronectin, type III (1);	0.055744	0.64402	D	0.000001	T	0.73171	0.3553	M	0.67700	2.07	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	T	0.68569	-0.5374	10	0.21540	T	0.41	.	18.2214	0.89903	0.0:1.0:0.0:0.0	.	508;508	P52179-2;P52179	.;MYOM1_HUMAN	E	508	ENSP00000348821:G508E;ENSP00000383413:G508E;ENSP00000261606:G508E	ENSP00000261606:G508E	G	-	2	0	MYOM1	3145065	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.577000	0.82486	2.528000	0.85240	0.650000	0.86243	GGA		PASS	0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	14	8	14	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3215053	3215053	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:3215053C>T	ENST00000356443.4	-	2	502	c.169G>A	c.(169-171)Gag>Aag	p.E57K	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.E57K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E57K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	57					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.E57K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTCGGACTCCCGGCGGTGC	0.692																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(169-171)GAG>AAG		myomesin 1 isoform a							26.0	32.0	30.0					18																	3215053		2012	4171	6183	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215053C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.169G>A	18.37:g.3215053C>T	ENSP00000348821:p.Glu57Lys					MYOM1_uc002klq.2_Missense_Mutation_p.E57K	p.E57K	NM_003803	NP_003794	P52179	MYOM1_HUMAN			2	503	-			57					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.169G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167453	0.38315	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51325	0.89;0.9;0.71	5.67	4.8	0.61643	.	0.442134	0.22706	N	0.056635	T	0.28167	0.0695	N	0.12182	0.205	0.32326	N	0.561709	B;B	0.29716	0.228;0.255	B;B	0.27796	0.083;0.054	T	0.32613	-0.9900	10	0.19590	T	0.45	.	12.2429	0.54553	0.0:0.9195:0.0:0.0805	.	57;57	P52179-2;P52179	.;MYOM1_HUMAN	K	57	ENSP00000348821:E57K;ENSP00000383413:E57K;ENSP00000261606:E57K	ENSP00000261606:E57K	E	-	1	0	MYOM1	3205053	1.000000	0.71417	0.990000	0.47175	0.395000	0.30598	2.177000	0.42509	1.389000	0.46526	0.655000	0.94253	GAG		PASS	0.692	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	11	4	11	---	---	---	---
TGIF1	7050	broad.mit.edu	37	18	3456442	3456442	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:3456442G>A	ENST00000330513.5	+	2	797	c.494G>A	c.(493-495)aGa>aAa	p.R165K	TGIF1_ENST00000405385.3_Missense_Mutation_p.R16K|TGIF1_ENST00000577543.1_Missense_Mutation_p.R36K|TGIF1_ENST00000551541.1_Missense_Mutation_p.R16K|TGIF1_ENST00000343820.5_Missense_Mutation_p.R36K|TGIF1_ENST00000551402.1_Missense_Mutation_p.R36K|TGIF1_ENST00000407501.2_Missense_Mutation_p.R36K|TGIF1_ENST00000472042.1_Missense_Mutation_p.R16K|TGIF1_ENST00000548489.2_Missense_Mutation_p.R50K|TGIF1_ENST00000401449.1_Missense_Mutation_p.R16K|TGIF1_ENST00000345133.5_Missense_Mutation_p.R16K|TGIF1_ENST00000400167.2_Missense_Mutation_p.R16K	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	165	Poly-Arg.				determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R165K(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TCAGGCAAGAGAAGGAGAAGG	0.512																																						uc002klz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)AGA>AAA		TG-interacting factor isoform a							258.0	241.0	247.0					18																	3456442		2203	4300	6503	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3456442G>A	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.494G>A	18.37:g.3456442G>A	ENSP00000327959:p.Arg165Lys					TGIF1_uc002klu.2_Missense_Mutation_p.R16K|TGIF1_uc002klv.2_Missense_Mutation_p.R50K|TGIF1_uc002klx.2_Missense_Mutation_p.R16K|TGIF1_uc002klw.2_Missense_Mutation_p.R36K|TGIF1_uc010dkm.1_Missense_Mutation_p.R36K|TGIF1_uc002kly.2_Missense_Mutation_p.R36K|TGIF1_uc002kma.2_Missense_Mutation_p.R16K|TGIF1_uc002kmb.2_Missense_Mutation_p.R16K|TGIF1_uc002kmc.2_Missense_Mutation_p.R16K	p.R165K	NM_170695	NP_733796	Q15583	TGIF1_HUMAN			2	881	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	165			Homeobox; TALE-type.|Poly-Arg.		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.494G>A	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059946	0.76074	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000549253;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	D;D;D;D;D;D;D;D;D;T;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;0.85;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.99;0.998;0.998	D	0.88752	0.3251	10	0.36615	T	0.2	-21.5924	20.4214	0.99039	0.0:0.0:1.0:0.0	.	36;165;36;50	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	K	16;16;16;50;16;39;16;36;36;36;36;16;16;165;16;16;16;16;16	ENSP00000449287:R16K;ENSP00000385206:R16K;ENSP00000449531:R16K;ENSP00000447747:R50K;ENSP00000448121:R16K;ENSP00000384970:R16K;ENSP00000339631:R36K;ENSP00000384133:R36K;ENSP00000448934:R36K;ENSP00000446944:R36K;ENSP00000450025:R16K;ENSP00000343969:R16K;ENSP00000327959:R165K;ENSP00000449580:R16K;ENSP00000449722:R16K;ENSP00000383031:R16K;ENSP00000446838:R16K;ENSP00000449501:R16K	ENSP00000327959:R165K	R	+	2	0	TGIF1	3446442	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.473000	0.97714	2.820000	0.97059	0.655000	0.94253	AGA		PASS	0.512	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		85	173	85	173	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6859867	6859867	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:6859867A>T	ENST00000383472.4	+	5	801	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S74C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S181C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S69C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S233C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S74C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S56C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S74C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	233					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.S74C(1)|p.S233C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TAAAGAAGGGAGTTTTGCGGT	0.438																																						uc010wzi.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(166-168)AGT>TGT		SubName: Full=Putative uncharacterized protein ARHGAP28;							226.0	217.0	220.0					18																	6859867		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859867A>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.697A>T	18.37:g.6859867A>T	ENSP00000372964:p.Ser233Cys					ARHGAP28_uc002knc.2_Missense_Mutation_p.S181C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S74C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S74C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S65C	p.S56C			B4DXL2	B4DXL2_HUMAN			4	404	+		Colorectal(10;0.168)	56					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.166A>T		.	.	.	.	.	.	.	.	.	.	A	12.70	2.016850	0.35606	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08896	3.19;3.15;3.13;3.11;3.13;3.04	4.44	-0.502	0.12004	.	1.158060	0.05816	N	0.614800	T	0.08313	0.0207	N	0.19112	0.55	0.09310	N	1	P;D;D;B	0.58970	0.758;0.973;0.984;0.034	B;P;P;B	0.50192	0.319;0.533;0.634;0.029	T	0.26326	-1.0106	10	0.59425	D	0.04	.	3.9319	0.09290	0.5125:0.1864:0.3011:0.0	.	233;65;74;181	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	233;181;74;69;74;74;65;56	ENSP00000382963:S233C;ENSP00000262227:S181C;ENSP00000392660:S74C;ENSP00000437262:S69C;ENSP00000313506:S74C;ENSP00000406907:S74C	ENSP00000262227:S181C	S	+	1	0	ARHGAP28	6849867	0.274000	0.24191	0.161000	0.22692	0.435000	0.31806	0.017000	0.13399	-0.073000	0.12842	-0.418000	0.06021	AGT		PASS	0.438	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		28	70	28	70	---	---	---	---
ARHGAP28	79822	broad.mit.edu	37	18	6873493	6873493	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:6873493C>T	ENST00000383472.4	+	8	1144	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S188F|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S295F|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S183F|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S347F|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S188F|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S170F|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S188F			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	347					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.S347F(1)|p.S188F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGCCATCTCTCTCTGATTGAA	0.378																																						uc010wzi.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(508-510)TCT>TTT		SubName: Full=Putative uncharacterized protein ARHGAP28;							156.0	157.0	156.0					18																	6873493		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6873493C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1040C>T	18.37:g.6873493C>T	ENSP00000372964:p.Ser347Phe					ARHGAP28_uc002knc.2_Missense_Mutation_p.S295F|ARHGAP28_uc002knd.2_Missense_Mutation_p.S188F|ARHGAP28_uc002kne.2_Missense_Mutation_p.S188F|ARHGAP28_uc002knf.2_Missense_Mutation_p.S179F	p.S170F			B4DXL2	B4DXL2_HUMAN			7	747	+		Colorectal(10;0.168)	170					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.509C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.355451	0.82243	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09350	3.17;3.12;3.07;3.08;3.07;2.99	5.26	5.26	0.73747	.	0.049520	0.85682	D	0.000000	T	0.30448	0.0765	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.997;0.998;0.998	D;D;D;D	0.78314	0.991;0.963;0.984;0.964	T	0.00436	-1.1740	10	0.46703	T	0.11	.	19.2241	0.93810	0.0:1.0:0.0:0.0	.	347;179;188;295	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	F	347;295;188;183;188;188;179;170	ENSP00000382963:S347F;ENSP00000262227:S295F;ENSP00000392660:S188F;ENSP00000437262:S183F;ENSP00000313506:S188F;ENSP00000406907:S188F	ENSP00000262227:S295F	S	+	2	0	ARHGAP28	6863493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.634000	0.67833	2.614000	0.88457	0.650000	0.86243	TCT		PASS	0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		30	71	30	71	---	---	---	---
LRRC30	339291	broad.mit.edu	37	18	7231207	7231207	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:7231207G>A	ENST00000383467.2	+	1	85	c.71G>A	c.(70-72)aGa>aAa	p.R24K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	24								p.R24K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACGGGGAGGAGACAGAAGTTT	0.617																																						uc010wzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(70-72)AGA>AAA		leucine rich repeat containing 30							65.0	72.0	70.0					18																	7231207		1998	4160	6158	SO:0001583	missense	339291							g.chr18:7231207G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.71G>A	18.37:g.7231207G>A	ENSP00000372959:p.Arg24Lys						p.R24K	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	71	+			24						Missense_Mutation	SNP	ENST00000383467.2	37	c.71G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563616	0.65651	.	.	ENSG00000206422	ENST00000383467	T	0.41758	0.99	5.66	5.66	0.87406	.	0.273320	0.40728	N	0.001028	T	0.31040	0.0784	L	0.29908	0.895	0.37359	D	0.911146	B	0.23377	0.084	B	0.24155	0.051	T	0.16571	-1.0398	10	0.02654	T	1	.	18.3055	0.90179	0.0:0.0:1.0:0.0	.	24	A6NM36	LRC30_HUMAN	K	24	ENSP00000372959:R24K	ENSP00000372959:R24K	R	+	2	0	LRRC30	7221207	1.000000	0.71417	0.940000	0.37924	0.939000	0.58152	6.278000	0.72614	2.832000	0.97577	0.655000	0.94253	AGA		PASS	0.617	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		17	26	17	26	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8069870	8069870	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:8069870C>T	ENST00000332175.8	+	8	2356	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.S440L|PTPRM_ENST00000400060.4_Missense_Mutation_p.S440L|PTPRM_ENST00000400053.4_Missense_Mutation_p.S378L|PTPRM_ENST00000444013.1_Missense_Mutation_p.S227L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	440	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S440L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACAGAAAACTCACACCCTCAA	0.468																																						uc002knn.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1318-1320)TCA>TTA		protein tyrosine phosphatase, receptor type, M							170.0	123.0	139.0					18																	8069870		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069870C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1319C>T	18.37:g.8069870C>T	ENSP00000331418:p.Ser440Leu					PTPRM_uc010dkv.2_Missense_Mutation_p.S440L|PTPRM_uc010wzl.1_Missense_Mutation_p.S227L	p.S440L	NM_002845	NP_002836	P28827	PTPRM_HUMAN			8	1822	+		Colorectal(10;0.234)	440			Fibronectin type-III 2.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1319C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966506	0.53507	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.52	4.65	0.58169	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.243309	0.37261	N	0.002179	T	0.45994	0.1370	L	0.50333	1.59	0.29303	N	0.868554	B;B;B	0.20780	0.034;0.048;0.048	B;B;B	0.17098	0.017;0.014;0.014	T	0.35968	-0.9767	10	0.26408	T	0.33	.	13.7601	0.62961	0.0:0.9267:0.0:0.0733	.	227;440;440	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	L	440;440;378;227	ENSP00000331418:S440L;ENSP00000382933:S440L;ENSP00000382927:S378L;ENSP00000387608:S227L	ENSP00000331418:S440L	S	+	2	0	PTPRM	8059870	0.031000	0.19500	0.229000	0.23960	0.932000	0.56968	2.436000	0.44819	2.611000	0.88343	0.655000	0.94253	TCA		PASS	0.468	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			7	18	7	18	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8380381	8380381	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:8380381C>T	ENST00000332175.8	+	27	4872	c.3835C>T	c.(3835-3837)Cac>Tac	p.H1279Y	PTPRM_ENST00000580170.1_Missense_Mutation_p.H1292Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1293Y|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1217Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1066Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1279	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H1279Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCTGGATTATCACTGCACATC	0.453																																						uc002knn.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3835-3837)CAC>TAC		protein tyrosine phosphatase, receptor type, M							113.0	101.0	105.0					18																	8380381		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8380381C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3835C>T	18.37:g.8380381C>T	ENSP00000331418:p.His1279Tyr					PTPRM_uc010dkv.2_Missense_Mutation_p.H1292Y|PTPRM_uc010wzl.1_Missense_Mutation_p.H1066Y	p.H1279Y	NM_002845	NP_002836	P28827	PTPRM_HUMAN			27	4338	+		Colorectal(10;0.234)	1279			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3835C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128770	0.77549	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.49	5.49	0.81192	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.053888	0.85682	D	0.000000	T	0.33469	0.0864	L	0.47016	1.485	0.54753	D	0.999987	P;P;D	0.54964	0.934;0.812;0.969	P;B;D	0.70227	0.745;0.39;0.968	T	0.01561	-1.1324	10	0.87932	D	0	.	19.3775	0.94517	0.0:1.0:0.0:0.0	.	1066;1292;1279	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1279;1293;1217;1066	ENSP00000331418:H1279Y;ENSP00000382933:H1293Y;ENSP00000382927:H1217Y;ENSP00000387608:H1066Y	ENSP00000331418:H1279Y	H	+	1	0	PTPRM	8370381	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.833000	0.62766	2.588000	0.87417	0.467000	0.42956	CAC		PASS	0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			20	21	20	21	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9550286	9550286	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:9550286G>A	ENST00000400556.3	-	17	2475	c.2402C>T	c.(2401-2403)tCc>tTc	p.S801F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S784F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	801					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.S801F(1)		large_intestine(1)|skin(2)	3						CAACTTGTAGGAAATCCAACG	0.378																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2401-2403)TCC>TTC		protein phosphatase 4, regulatory subunit 1							120.0	116.0	118.0					18																	9550286		1877	4106	5983	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9550286G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2402C>T	18.37:g.9550286G>A	ENSP00000383402:p.Ser801Phe					PPP4R1_uc002kof.2_Missense_Mutation_p.S218F|PPP4R1_uc010wzo.1_Missense_Mutation_p.S647F|PPP4R1_uc002kod.1_Missense_Mutation_p.S784F	p.S801F	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			17	2520	-			801			HEAT 13.		Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2402C>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140592	0.94560	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.34275	1.37;1.37	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.134500	0.52532	D	0.000061	T	0.64918	0.2642	M	0.79805	2.47	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.81914	0.995;0.991;0.989	T	0.64136	-0.6478	9	.	.	.	-21.1413	20.1184	0.97949	0.0:0.0:1.0:0.0	.	784;801;784	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	801;784	ENSP00000383402:S801F;ENSP00000383401:S784F	.	S	-	2	0	PPP4R1	9540286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.769000	0.95229	0.655000	0.94253	TCC		PASS	0.378	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		32	59	32	59	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10680351	10680351	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:10680351C>T	ENST00000503781.3	-	48	7457	c.7458G>A	c.(7456-7458)ctG>ctA	p.L2486L	PIEZO2_ENST00000302079.6_Silent_p.L2423L|PIEZO2_ENST00000580640.1_Silent_p.L2511L|PIEZO2_ENST00000285141.4_Silent_p.L278L|PIEZO2_ENST00000538948.1_Silent_p.L443L|PIEZO2_ENST00000581680.1_5'UTR	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2486					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.L2486L(1)|p.L278L(1)									CATAATTTTCCAGAAATTGCA	0.378																																						uc002kor.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1327-1329)CTG>CTA		family with sequence similarity 38, member B							134.0	129.0	130.0					18																	10680351		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10680351C>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7458G>A	18.37:g.10680351C>T						FAM38B_uc002koq.2_Silent_p.L278L	p.L443L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			10	1469	-			2486					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.1329G>A																																																																																					PASS	0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		13	49	13	49	---	---	---	---
SPIRE1	56907	broad.mit.edu	37	18	12506584	12506584	+	Silent	SNP	C	C	T	rs374845625		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:12506584C>T	ENST00000409402.4	-	6	1131	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SPIRE1_ENST00000410092.3_Silent_p.K288K|SPIRE1_ENST00000383356.2_Silent_p.K129K|SPIRE1_ENST00000453447.2_Silent_p.K168K|SPIRE1_ENST00000309836.5_Silent_p.K91K	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.K129K(1)|p.K288K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GCTCTTGGACCTTCTTAAGTT	0.433																																						uc002kre.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(862-864)AAG>AAA		spire homolog 1 isoform a							240.0	209.0	219.0					18																	12506584		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12506584C>T	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.864G>A	18.37:g.12506584C>T						SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.K168K|SPIRE1_uc010wzx.1_Silent_p.K91K|SPIRE1_uc010wzy.1_Silent_p.K288K	p.K288K	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			6	911	-			288						Silent	SNP	ENST00000409402.4	37	c.864G>A	CCDS45829.1																																																																																				PASS	0.433	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		51	91	51	91	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12982531	12982531	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:12982531C>T	ENST00000262124.11	+	7	903	c.776C>T	c.(775-777)tCc>tTc	p.S259F	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_Missense_Mutation_p.S259F|SEH1L_ENST00000592582.1_3'UTR	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	259					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.S259F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GAACTGACTTCCTCTGGTGGG	0.353																																						uc002krr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)TCC>TTC		sec13-like protein isoform 2							78.0	77.0	77.0					18																	12982531		2203	4300	6503	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12982531C>T	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.776C>T	18.37:g.12982531C>T	ENSP00000262124:p.Ser259Phe					SEH1L_uc002krq.2_Missense_Mutation_p.S259F	p.S259F	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN			7	914	+			259					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.776C>T	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207544	0.58343	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.71341	-0.47;-0.56	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.161543	0.56097	D	0.000032	T	0.69233	0.3088	L	0.53249	1.67	0.52501	D	0.999951	P;B	0.40266	0.71;0.021	B;B	0.36378	0.223;0.029	T	0.72500	-0.4274	10	0.72032	D	0.01	-10.7887	20.5753	0.99366	0.0:1.0:0.0:0.0	.	259;259	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	F	259	ENSP00000382779:S259F;ENSP00000262124:S259F	ENSP00000262124:S259F	S	+	2	0	SEH1L	12972531	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.553000	0.67287	2.868000	0.98415	0.557000	0.71058	TCC		PASS	0.353	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		6	35	6	35	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13621131	13621131	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:13621131C>T	ENST00000359446.5	+	4	665	c.197C>T	c.(196-198)gCc>gTc	p.A66V	LDLRAD4_ENST00000585931.1_5'UTR|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A66V|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.A29V|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.A66V|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.A29V	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	66					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.A29V(1)|p.A66V(1)									CTGGAGTTCGCCCAAATCATC	0.592																																						uc002ksa.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(196-198)GCC>GTC		hypothetical protein LOC753 isoform alpha 1							233.0	176.0	195.0					18																	13621131		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13621131C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.197C>T	18.37:g.13621131C>T	ENSP00000352420:p.Ala66Val					C18orf1_uc002ksb.2_Missense_Mutation_p.A66V|C18orf1_uc002kse.2_Missense_Mutation_p.A29V|C18orf1_uc002ksf.2_Missense_Mutation_p.A29V|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.A8V|C18orf1_uc002ksi.1_Missense_Mutation_p.A8V	p.A66V	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	865	+			66			Helical; (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.197C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	8.787	0.929613	0.18131	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.24908	1.91;1.83	5.58	4.52	0.55395	.	0.179666	0.48286	D	0.000196	T	0.09686	0.0238	N	0.08118	0	0.34992	D	0.755139	B;B;B;B;B;B	0.10296	0.003;0.001;0.003;0.001;0.002;0.002	B;B;B;B;B;B	0.16289	0.002;0.008;0.002;0.005;0.015;0.003	T	0.24368	-1.0162	10	0.02654	T	1	0.0605	6.7832	0.23659	0.0:0.7487:0.0:0.2513	.	8;8;29;29;66;66	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	V	66;66;29;29;8;8	ENSP00000354753:A66V;ENSP00000382741:A66V	ENSP00000352420:A29V	A	+	2	0	C18orf1	13611131	1.000000	0.71417	0.961000	0.40146	0.976000	0.68499	4.642000	0.61383	2.645000	0.89757	0.655000	0.94253	GCC		PASS	0.592	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		32	58	32	58	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13737115	13737115	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:13737115T>C	ENST00000383314.2	+	5	900	c.660T>C	c.(658-660)atT>atC	p.I220I	RNMT_ENST00000543302.2_Silent_p.I220I|RNMT_ENST00000592764.1_Silent_p.I220I|RNMT_ENST00000589866.1_Silent_p.I220I|RNMT_ENST00000262173.3_Silent_p.I220I|RNMT_ENST00000535051.1_5'UTR			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	220	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.I220I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AAGGAAGAATTAACAAGCTAG	0.333																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(658-660)ATT>ATC		RNA (guanine-7-) methyltransferase							120.0	123.0	122.0					18																	13737115		2203	4300	6503	SO:0001819	synonymous_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13737115T>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.660T>C	18.37:g.13737115T>C						RNMT_uc002ksl.1_Silent_p.I220I|RNMT_uc002ksm.1_Silent_p.I220I|RNMT_uc010dlk.2_Silent_p.I220I|RNMT_uc010xae.1_RNA	p.I220I	NM_003799	NP_003790	O43148	MCES_HUMAN			4	727	+			220					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Silent	SNP	ENST00000383314.2	37	c.660T>C	CCDS11867.1																																																																																				PASS	0.333	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		26	34	26	34	---	---	---	---
MC2R	4158	broad.mit.edu	37	18	13884700	13884700	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:13884700G>A	ENST00000327606.3	-	2	998	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	273					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.P273L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATATATGAAGGGGTCAATGAC	0.498																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5	GRCh37	CM981239	MC2R	M		c.(817-819)CCC>CTC		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						116.0	109.0	111.0					18																	13884700		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884700G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.818C>T	18.37:g.13884700G>A	ENSP00000333821:p.Pro273Leu						p.P273L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	995	-			273			Helical; Name=7; (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.818C>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912506	0.92178	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	D	0.98807	-5.15	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98402	1.0568	10	0.87932	D	0	.	18.425	0.90606	0.0:0.0:1.0:0.0	.	273	Q01718	ACTHR_HUMAN	L	273	ENSP00000333821:P273L	ENSP00000333821:P273L	P	-	2	0	MC2R	13874700	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	9.053000	0.93860	2.350000	0.79820	0.655000	0.94253	CCC		PASS	0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			24	53	24	53	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18571194	18571194	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:18571194C>T	ENST00000399799.2	-	18	3026	c.2086G>A	c.(2086-2088)Gct>Act	p.A696T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	696	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A696T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GTTAAACGAGCTTTGGTTACT	0.294																																						uc002kte.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(2086-2088)GCT>ACT		Rho-associated, coiled-coil containing protein							264.0	244.0	251.0					18																	18571194		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18571194C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2086G>A	18.37:g.18571194C>T	ENSP00000382697:p.Ala696Thr						p.A696T	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			18	3027	-	Melanoma(1;0.165)		696			Glu-rich.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2086G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	33	5.220005	0.95139	.	.	ENSG00000067900	ENST00000399799	T	0.65732	-0.17	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.73753	2.245	0.80722	D	1	P	0.42785	0.79	B	0.42422	0.387	T	0.73285	-0.4031	10	0.52906	T	0.07	.	16.6822	0.85295	0.0:1.0:0.0:0.0	.	696	Q13464	ROCK1_HUMAN	T	696	ENSP00000382697:A696T	ENSP00000382697:A696T	A	-	1	0	ROCK1	16825192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.213000	0.71641	0.655000	0.94253	GCT		PASS	0.294	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		11	51	11	51	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19780731	19780732	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:19780731_19780732CC>TT	ENST00000269216.3	+	7	2010_2011	c.1733_1734CC>TT	c.(1732-1734)gCC>gTT	p.A578V	GATA6_ENST00000581694.1_Missense_Mutation_p.A578V|RP11-627G18.1_ENST00000583442.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	578					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A578V(2)|p.A578A(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCCTCGCCGGCCGAAGTCACGT	0.668																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(3)	3						c.(1732-1734)GCC>GTC|c.(1732-1734)GCC>GCT		GATA binding protein 6																																				SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780731C>T|g.chr18:19780732C>T	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	Exception_encountered	18.37:g.19780731_19780732delinsTT	ENSP00000269216:p.Ala578Val					GATA6_uc002ktu.1_Missense_Mutation_p.A578V|GATA6_uc002ktu.1_Silent_p.A578A	p.A578V|p.A578A	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1998|1999	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		578					B0YJ17|P78327	Missense_Mutation|Silent	SNP	ENST00000269216.3	37	c.1733C>T|c.1734C>T	CCDS11872.1																																																																																				PASS	0.668	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		8|7	12	7	12	---	---	---	---
IMPACT	55364	broad.mit.edu	37	18	22023101	22023102	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:22023101_22023102GG>AA	ENST00000284202.4	+	7	720_721	c.579_580GG>AA	c.(577-582)gtGGtt>gtAAtt	p.V194I		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	194					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.V194I(2)|p.V193V(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGGCTCCAGTGGTTTGTCCCAA	0.361																																						uc002kvh.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(577-579)GTG>GTA|c.(580-582)GTT>ATT		Impact homolog																																				SO:0001583	missense	55364							g.chr18:22023101G>A|g.chr18:22023102G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	Exception_encountered	18.37:g.22023101_22023102delinsAA	ENSP00000284202:p.Val194Ile					IMPACT_uc002kvg.3_Silent_p.V175V|IMPACT_uc002kvg.3_Missense_Mutation_p.V176I	p.V193V|p.V194I	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			7	691|692	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		193|194					A8MXG0|Q49AM0|Q9H2X4	Silent|Missense_Mutation	SNP	ENST00000284202.4	37	c.579G>A|c.580G>A	CCDS11886.1																																																																																				PASS	0.361	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		20	43	20	43	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806088	22806088	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:22806088C>T	ENST00000361524.3	-	4	1942	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.G378G|ZNF521_ENST00000538137.2_Silent_p.G598G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	598					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.G598G(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGATTTCTTCCCATTGTGGA	0.453			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1792-1794)GGG>GGA		zinc finger protein 521							103.0	105.0	104.0					18																	22806088		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806088C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1794G>A	18.37:g.22806088C>T						ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.G598G|ZNF521_uc002kvl.2_Silent_p.G378G	p.G598G	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2041	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		598					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1794G>A	CCDS32806.1																																																																																				PASS	0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	25	8	25	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806243	22806243	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:22806243G>A	ENST00000361524.3	-	4	1787	c.1639C>T	c.(1639-1641)Cca>Tca	p.P547S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.P327S|ZNF521_ENST00000538137.2_Missense_Mutation_p.P547S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	547					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P547S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCAAGCACTGGAGACCCAAAT	0.443			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1639-1641)CCA>TCA		zinc finger protein 521							80.0	87.0	85.0					18																	22806243		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806243G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1639C>T	18.37:g.22806243G>A	ENSP00000354794:p.Pro547Ser					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.P547S|ZNF521_uc002kvl.2_Missense_Mutation_p.P327S	p.P547S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1886	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		547					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1639C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772163	0.31411	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.13657	2.57;2.58	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.29908	0.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.01276	-1.1398	10	0.23302	T	0.38	-13.2905	20.2227	0.98327	0.0:0.0:1.0:0.0	.	547	Q96K83	ZN521_HUMAN	S	547;581;547	ENSP00000354794:P547S;ENSP00000382352:P547S	ENSP00000354794:P547S	P	-	1	0	ZNF521	21060241	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.476000	0.97823	2.778000	0.95560	0.650000	0.86243	CCA		PASS	0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		17	50	17	50	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22807069	22807069	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:22807069T>A	ENST00000361524.3	-	4	961	c.813A>T	c.(811-813)gaA>gaT	p.E271D	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.E51D|ZNF521_ENST00000538137.2_Missense_Mutation_p.E271D	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	271					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.E271D(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGGGGAGCATTCGGGGTGGC	0.547			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(811-813)GAA>GAT		zinc finger protein 521							116.0	105.0	108.0					18																	22807069		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807069T>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.813A>T	18.37:g.22807069T>A	ENSP00000354794:p.Glu271Asp					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E271D|ZNF521_uc002kvl.2_Missense_Mutation_p.E51D	p.E271D	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1060	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		271					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.813A>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	9.559	1.117980	0.20877	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09630	2.96;2.99	6.02	-0.191	0.13252	Zinc finger, C2H2 (1);	0.048364	0.85682	D	0.000000	T	0.10337	0.0253	L	0.29908	0.895	0.32371	N	0.555815	P	0.46656	0.882	P	0.47573	0.55	T	0.12708	-1.0537	10	0.33940	T	0.23	-28.3974	11.6183	0.51102	0.0:0.6876:0.0:0.3124	.	271	Q96K83	ZN521_HUMAN	D	271;305;271	ENSP00000354794:E271D;ENSP00000382352:E271D	ENSP00000354794:E271D	E	-	3	2	ZNF521	21061067	0.284000	0.24287	0.952000	0.39060	0.929000	0.56500	-0.328000	0.07945	-0.330000	0.08514	0.533000	0.62120	GAA		PASS	0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		12	48	12	48	---	---	---	---
AQP4	361	broad.mit.edu	37	18	24436323	24436323	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:24436323C>T	ENST00000383168.4	-	5	952	c.824G>A	c.(823-825)gGa>gAa	p.G275E	AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.G253E|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.G253E|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	275					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.G275E(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CATGTAGCTTCCTTTTGTTTG	0.488																																						uc002kwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GGA>GAA		aquaporin 4 isoform a							269.0	232.0	244.0					18																	24436323		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436323C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.824G>A	18.37:g.24436323C>T	ENSP00000372654:p.Gly275Glu					AQP4_uc002kvz.2_Missense_Mutation_p.G253E	p.G275E	NM_001650	NP_001641	P55087	AQP4_HUMAN			5	887	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		275			Cytoplasmic (Potential).		P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.824G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280215	0.59758	.	.	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.85861	-2.04	5.75	5.75	0.90469	.	0.188191	0.47455	D	0.000229	T	0.78591	0.4307	N	0.19112	0.55	0.58432	D	0.999995	B	0.09022	0.002	B	0.09377	0.004	T	0.71144	-0.4678	10	0.42905	T	0.14	.	19.9375	0.97146	0.0:1.0:0.0:0.0	.	275	P55087	AQP4_HUMAN	E	275;255;171	ENSP00000372654:G275E	ENSP00000372654:G275E	G	-	2	0	AQP4	22690321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.401000	0.52601	2.717000	0.92951	0.650000	0.86243	GGA		PASS	0.488	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		38	81	38	81	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25568577	25568577	+	Missense_Mutation	SNP	C	C	T	rs199900123		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:25568577C>T	ENST00000269141.3	-	11	2075	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CDH2_ENST00000399380.3_Missense_Mutation_p.G520E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	551	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.G551E(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTTATTTGTCCATTCACAGG	0.308																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1651-1653)GGA>GAA		cadherin 2, type 1 preproprotein							119.0	123.0	121.0					18																	25568577		2202	4300	6502	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25568577C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1652G>A	18.37:g.25568577C>T	ENSP00000269141:p.Gly551Glu					CDH2_uc010xbn.1_Missense_Mutation_p.G520E	p.G551E	NM_001792	NP_001783	P19022	CADH2_HUMAN			11	2111	-			551			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1652G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849431	0.91277	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	D;D	0.91464	-2.85;-2.85	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99139	1.0855	10	0.87932	D	0	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	520;551	A8MWK3;P19022	.;CADH2_HUMAN	E	551;520	ENSP00000269141:G551E;ENSP00000382312:G520E	ENSP00000269141:G551E	G	-	2	0	CDH2	23822575	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.439000	0.80444	2.752000	0.94435	0.655000	0.94253	GGA		PASS	0.308	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		9	16	9	16	---	---	---	---
TTR	7276	broad.mit.edu	37	18	29178598	29178599	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:29178598_29178599CC>TT	ENST00000237014.3	+	4	581_582	c.404_405CC>TT	c.(403-405)tCC>tTT	p.S135F		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	135	Thyroid hormone binding.				extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.S135F(2)|p.S135S(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCCCCTACTCCTATTCCACCA	0.554																																						uc002kwx.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(403-405)TCC>TTC|c.(403-405)TCC>TCT		transthyretin precursor	Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)																																			SO:0001583	missense	7276				transport	cytoplasm	hormone activity	g.chr18:29178598C>T|g.chr18:29178599C>T	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	Exception_encountered	18.37:g.29178598_29178599delinsTT	ENSP00000237014:p.Ser135Phe						p.S135F|p.S135S	NM_000371	NP_000362	P02766	TTHY_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00523)		4	540|541	+			135			Thyroid hormone binding.		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation|Silent	SNP	ENST00000237014.3	37	c.404C>T|c.405C>T	CCDS11899.1																																																																																				PASS	0.554	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		15	35|33	15	33	---	---	---	---
B4GALT6	9331	broad.mit.edu	37	18	29206995	29206995	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:29206995C>T	ENST00000306851.5	-	7	1162	c.866G>A	c.(865-867)gGa>gAa	p.G289E	B4GALT6_ENST00000383131.3_Missense_Mutation_p.G250E|B4GALT6_ENST00000237019.7_Missense_Mutation_p.G250E	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	289					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.G289V(1)|p.G289E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCCTCCCCATCCCCAGAAGGC	0.338																																						uc002kwz.3																			2	Substitution - Missense(2)		lung(2)		0						c.(865-867)GGA>GAA		beta-1,4-galactosyltransferase 6							83.0	81.0	82.0					18																	29206995		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29206995C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.866G>A	18.37:g.29206995C>T	ENSP00000306459:p.Gly289Glu					B4GALT6_uc010dma.2_Missense_Mutation_p.G250E|B4GALT6_uc010dmb.2_Missense_Mutation_p.G250E|B4GALT6_uc002kwy.3_5'Flank	p.G289E	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		7	1163	-			289			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.866G>A	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106390	0.94292	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	D;D;D	0.88277	-2.36;-2.36;-2.36	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97409	1.0001	10	0.87932	D	0	-8.8663	19.9238	0.97097	0.0:1.0:0.0:0.0	.	250;250;289	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	E	289;250;250	ENSP00000306459:G289E;ENSP00000237019:G250E;ENSP00000372613:G250E	ENSP00000237019:G250E	G	-	2	0	B4GALT6	27460993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	GGA		PASS	0.338	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		12	36	12	36	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29850233	29850233	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:29850233C>T	ENST00000269209.6	-	5	1683	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	GAREM_ENST00000399218.4_Silent_p.Q560Q			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	560	Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.Q560Q(1)									GAGAGCGAGTCTGTTGCCGCG	0.592																																						uc002kxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1678-1680)CAG>CAA		family with sequence similarity 59, member A							160.0	133.0	142.0					18																	29850233		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29850233C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1680G>A	18.37:g.29850233C>T						FAM59A_uc002kxk.1_Silent_p.Q560Q	p.Q560Q	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			5	1736	-			560			Pro-rich.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.1680G>A	CCDS56057.1																																																																																				PASS	0.592	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		5	15	5	15	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30275436	30275436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:30275436C>T	ENST00000359358.4	-	4	1587	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	383						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.W383*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CATTCGGATTCCACTGGTCCT	0.413																																						uc002kxm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1147-1149)TGG>TGA		kelch-like 14							123.0	95.0	104.0					18																	30275436		2203	4300	6503	SO:0001587	stop_gained	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30275436C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1149G>A	18.37:g.30275436C>T	ENSP00000352314:p.Trp383*					KLHL14_uc010dmd.1_5'UTR	p.W383*	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			4	1537	-			383			Kelch 2.		A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	c.1149G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	42	9.333520	0.99140	.	.	ENSG00000197705	ENST00000359358	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9019	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	X	383	.	ENSP00000352314:W383X	W	-	3	0	KLHL14	28529434	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.330000	0.79181	2.781000	0.95711	0.650000	0.86243	TGG		PASS	0.413	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			9	15	9	15	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30795606	30795606	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:30795606C>T	ENST00000383096.3	-	19	2168	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	CCDC178_ENST00000583930.1_Missense_Mutation_p.M662I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M662I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M662I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M662I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M662I|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.M624I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	662								p.M624I(1)|p.M662I(1)									CATAAAAAATCATTGTCTTAC	0.254																																						uc002kxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1984-1986)ATG>ATA		hypothetical protein LOC374864 isoform 1							32.0	36.0	35.0					18																	30795606		2172	4283	6455	SO:0001583	missense	374864							g.chr18:30795606C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1986G>A	18.37:g.30795606C>T	ENSP00000372576:p.Met662Ile					C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc010xbr.1_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.2_Missense_Mutation_p.M662I	p.M662I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			18	2128	-			662			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1986G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	4.742	0.138032	0.09083	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.13657	2.57;2.57;2.59;2.57;2.58	4.31	-5.67	0.02444	.	.	.	.	.	T	0.03871	0.0109	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.42599	-0.9442	9	0.30854	T	0.27	7.4933	6.2026	0.20585	0.2279:0.3966:0.0:0.3755	.	662;662;662;624;662	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	I	662;662;624;662;662	ENSP00000385591:M662I;ENSP00000372576:M662I;ENSP00000300227:M624I;ENSP00000385867:M662I;ENSP00000385234:M662I	ENSP00000300227:M624I	M	-	3	0	C18orf34	29049604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.596000	0.05720	-0.943000	0.03691	-1.665000	0.00749	ATG		PASS	0.254	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		8	25	8	25	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30873188	30873188	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:30873188C>T	ENST00000383096.3	-	12	1293	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	CCDC178_ENST00000583930.1_Missense_Mutation_p.E371K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E371K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E371K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E371K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E371K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.E371K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	371								p.E371K(2)									TCAGTCACTTCCTCTTCCTTC	0.289																																						uc002kxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1111-1113)GAA>AAA		hypothetical protein LOC374864 isoform 1							112.0	107.0	109.0					18																	30873188		2199	4296	6495	SO:0001583	missense	374864							g.chr18:30873188C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1111G>A	18.37:g.30873188C>T	ENSP00000372576:p.Glu371Lys					C18orf34_uc010xbr.1_Missense_Mutation_p.E371K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E371K|C18orf34_uc002kxp.2_Missense_Mutation_p.E371K	p.E371K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			11	1253	-			371			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1111G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.031370	0.02029	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	3.59	0.804	0.18697	.	.	.	.	.	T	0.32526	0.0832	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.32160	0.0;0.358;0.358;0.358	B;B;B;B	0.26770	0.001;0.073;0.073;0.073	T	0.20907	-1.0261	9	0.06757	T	0.87	2.1677	5.9351	0.19161	0.0:0.6662:0.0:0.3338	.	371;371;371;371	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	371	ENSP00000385591:E371K;ENSP00000372576:E371K;ENSP00000300227:E371K;ENSP00000385867:E371K;ENSP00000385234:E371K	ENSP00000300227:E371K	E	-	1	0	C18orf34	29127186	0.000000	0.05858	0.006000	0.13384	0.047000	0.14425	-1.390000	0.02528	0.146000	0.19002	0.491000	0.48974	GAA		PASS	0.289	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		10	24	10	24	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40850610	40850610	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:40850610G>A	ENST00000255224.3	-	4	1342	c.974C>T	c.(973-975)cCc>cTc	p.P325L	SYT4_ENST00000590752.1_Missense_Mutation_p.P307L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	325	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P325L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGACATAGGGATCTGCAGT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			2	Substitution - Missense(2)		lung(2)	skin(5)	5						c.(973-975)CCC>CTC		synaptotagmin IV							79.0	80.0	80.0					18																	40850610		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850610G>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.974C>T	18.37:g.40850610G>A	ENSP00000255224:p.Pro325Leu					SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.P307L|SYT4_uc010dnh.2_Intron	p.P325L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			4	1343	-			325			C2 2.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.974C>T	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567368	0.86439	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.76709	-1.04	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.049433	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95007	0.8148	10	0.87932	D	0	.	19.5717	0.95423	0.0:0.0:1.0:0.0	.	307;325	B4DEU3;Q9H2B2	.;SYT4_HUMAN	L	325;130	ENSP00000255224:P325L	ENSP00000255224:P325L	P	-	2	0	SYT4	39104608	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.644000	0.89710	0.655000	0.94253	CCC		PASS	0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		13	43	13	43	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40854007	40854008	+	Missense_Mutation	DNP	CC	CC	TT	rs374289524		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:40854007_40854008CC>TT	ENST00000255224.3	-	2	754_755	c.386_387GG>AA	c.(385-387)gGG>gAA	p.G129E	SYT4_ENST00000590752.1_Missense_Mutation_p.G111E|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	129					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G129E(4)|p.G129G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ACTCTTTTTCCCCTTCTAAAAA	0.436																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	skin(5)	5						c.(385-387)GGG>GGA|c.(385-387)GGG>GAG		synaptotagmin IV																																				SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854007C>T|g.chr18:40854008C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.386_387delinsTT	18.37:g.40854007_40854008delinsTT	ENSP00000255224:p.Gly129Glu					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.G111G|SYT4_uc010dnh.2_Intron|SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.G111E|SYT4_uc010dnh.2_Intron	p.G129G|p.G129E	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	756|755	-			129			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent|Missense_Mutation	SNP	ENST00000255224.3	37	c.387G>A|c.386G>A	CCDS11922.1																																																																																				PASS	0.436	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		15|16	45	15	45	---	---	---	---
RNF165	494470	broad.mit.edu	37	18	44027630	44027630	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:44027630C>T	ENST00000269439.7	+	4	641	c.590C>T	c.(589-591)cCc>cTc	p.P197L	RNF165_ENST00000543885.1_Missense_Mutation_p.P5L	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	197							zinc ion binding (GO:0008270)	p.P197L(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CACCACTTTCCCAGAAACTCC	0.572																																						uc002lcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)CCC>CTC		ring finger protein 165							222.0	191.0	202.0					18																	44027630		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44027630C>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.590C>T	18.37:g.44027630C>T	ENSP00000269439:p.Pro197Leu					RNF165_uc002lby.1_Missense_Mutation_p.P130L|RNF165_uc010dnn.1_5'UTR	p.P197L	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	4	641	+			197					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.590C>T	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021798	0.93462	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.23950	2.09;1.88	5.7	5.7	0.88788	.	0.118050	0.64402	D	0.000016	T	0.37679	0.1012	M	0.64997	1.995	0.80722	D	1	P	0.49358	0.923	P	0.48524	0.58	T	0.03095	-1.1073	10	0.21540	T	0.41	-0.6644	19.8993	0.96980	0.0:1.0:0.0:0.0	.	197	Q6ZSG1	RN165_HUMAN	L	197;5	ENSP00000269439:P197L;ENSP00000444285:P5L	ENSP00000269439:P197L	P	+	2	0	RNF165	42281628	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.999000	0.70665	2.707000	0.92482	0.555000	0.69702	CCC		PASS	0.572	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		37	80	37	80	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47404178	47404178	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:47404178G>A	ENST00000285039.7	-	25	3650	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	MYO5B_ENST00000587895.1_5'Flank|MYO5B_ENST00000324581.6_Silent_p.S258S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1117					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.S1117S(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTCAGATGTGGAGATGGAGG	0.502																																						uc002leb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(3349-3351)TCC>TCT		myosin VB							210.0	206.0	207.0					18																	47404178		1983	4161	6144	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404178G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3351C>T	18.37:g.47404178G>A						MYO5B_uc002lea.2_Silent_p.S258S	p.S1117S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3639	-			1117			Potential.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3351C>T	CCDS42436.1																																																																																				PASS	0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			17	34	17	34	---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48241502	48241502	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:48241502C>T	ENST00000400384.2	+	3	1636	c.600C>T	c.(598-600)ctC>ctT	p.L200L	MAPK4_ENST00000592595.1_Silent_p.L200L|MAPK4_ENST00000540640.1_5'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L200L(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CACGACTGCTCCTTTCCCCCA	0.502																																						uc002lev.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)	6						c.(598-600)CTC>CTT		mitogen-activated protein kinase 4							144.0	137.0	139.0					18																	48241502		1993	4169	6162	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48241502C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.600C>T	18.37:g.48241502C>T						MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Silent_p.L200L	p.L200L	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	3	1600	+		Colorectal(6;0.0297)	200			Protein kinase.		A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.600C>T	CCDS42437.1																																																																																				PASS	0.502	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		9	42	9	42	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50432545	50432545	+	Missense_Mutation	SNP	C	C	T	rs199679918		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:50432545C>T	ENST00000442544.2	+	3	1160	c.544C>T	c.(544-546)Cca>Tca	p.P182S	DCC_ENST00000412726.1_Missense_Mutation_p.P30S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	182	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P182S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGACCTGACTCCAATCCCAGG	0.547																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(544-546)CCA>TCA		netrin receptor DCC precursor							88.0	78.0	82.0					18																	50432545		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432545C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.544C>T	18.37:g.50432545C>T	ENSP00000389140:p.Pro182Ser					DCC_uc010xdr.1_Missense_Mutation_p.P30S	p.P182S	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1131	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	182			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.544C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	9.063	0.994890	0.19043	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.64085	-0.08;-0.08	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.177503	0.38959	N	0.001506	T	0.41789	0.1174	N	0.12637	0.245	0.40262	D	0.978182	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.36578	-0.9742	10	0.48119	T	0.1	.	8.3737	0.32430	0.0:0.761:0.1576:0.0813	.	30;182	E7EQM8;P43146	.;DCC_HUMAN	S	182;115;30	ENSP00000389140:P182S;ENSP00000397322:P30S	ENSP00000304146:P115S	P	+	1	0	DCC	48686543	0.001000	0.12720	0.151000	0.22473	0.650000	0.38633	0.381000	0.20619	2.688000	0.91661	0.655000	0.94253	CCA		PASS	0.547	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		21	47	21	47	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50432550	50432550	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:50432550C>T	ENST00000442544.2	+	3	1165	c.549C>T	c.(547-549)atC>atT	p.I183I	DCC_ENST00000412726.1_Silent_p.I31I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	183	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.I183I(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGACTCCAATCCCAGGTGACT	0.542																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(547-549)ATC>ATT		netrin receptor DCC precursor							87.0	77.0	80.0					18																	50432550		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432550C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.549C>T	18.37:g.50432550C>T						DCC_uc010xdr.1_Silent_p.I31I	p.I183I	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1136	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	183			Extracellular (Potential).|Ig-like C2-type 2.			Silent	SNP	ENST00000442544.2	37	c.549C>T	CCDS11952.1																																																																																				PASS	0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		28	39	28	39	---	---	---	---
RAB27B	5874	broad.mit.edu	37	18	52546600	52546600	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:52546600G>A	ENST00000262094.5	+	3	675	c.154G>A	c.(154-156)Gtt>Att	p.V52I	RP11-99A1.2_ENST00000590604.1_lincRNA|RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	52					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)	p.V52I(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TATCTTTCAGGTTTATAATGC	0.388																																						uc002lfr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GTT>ATT		RAB27B, member RAS oncogene family							148.0	130.0	136.0					18																	52546600		2203	4300	6503	SO:0001630	splice_region_variant	5874				protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	g.chr18:52546600G>A	U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.154-1G>A	18.37:g.52546600G>A							p.V52I	NM_004163	NP_004154	O00194	RB27B_HUMAN		Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)	3	265	+			52					B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	37	c.154G>A	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913471	0.33815	.	.	ENSG00000041353	ENST00000262094	T	0.76968	-1.06	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.249566	0.41396	D	0.000890	T	0.58278	0.2111	N	0.12422	0.21	0.58432	D	0.999993	B	0.02656	0.0	B	0.06405	0.002	T	0.54410	-0.8298	9	.	.	.	-3.4263	9.5838	0.39504	0.1478:0.0:0.8522:0.0	.	52	O00194	RB27B_HUMAN	I	52	ENSP00000262094:V52I	.	V	+	1	0	RAB27B	50697598	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.376000	0.52417	2.941000	0.99782	0.655000	0.94253	GTT		PASS	0.388	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	Missense_Mutation	23	40	23	40	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54424311	54424311	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:54424311C>T	ENST00000254442.3	+	15	2698	c.2487C>T	c.(2485-2487)ccC>ccT	p.P829P	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.P829P	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	829					hematopoietic progenitor cell differentiation (GO:0002244)			p.P829P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTGAAACCCCACTGCACCG	0.493																																						uc002lgk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2485-2487)CCC>CCT		rabconnectin-3 beta isoform 1							201.0	187.0	192.0					18																	54424311		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54424311C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2487C>T	18.37:g.54424311C>T						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.P829P	p.P829P	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2698	+			829					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.2487C>T	CCDS11962.1																																																																																				PASS	0.493	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			17	68	17	68	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	C	T	rs376754702		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:55024414C>T	ENST00000324000.3	+	3	2607	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	191					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F191F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTGCAATTTCGCCCCTACGG	0.403																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(571-573)TTC>TTT		ST8 alpha-N-acetyl-neuraminide		C		0,4406		0,0,2203	78.0	83.0	81.0		573	-7.1	0.8	18		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST8SIA3	NM_015879.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		191/381	55024414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024414C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.573C>T	18.37:g.55024414C>T							p.F191F	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	930	+			191			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.573C>T	CCDS32834.1																																																																																				PASS	0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		17	38	17	38	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55024568	55024568	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:55024568C>T	ENST00000324000.3	+	3	2761	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	243					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.L243F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGGGGCCATTCTTTGGATCCC	0.413																																						uc002lgn.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(727-729)CTT>TTT		ST8 alpha-N-acetyl-neuraminide							50.0	51.0	51.0					18																	55024568		2201	4297	6498	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024568C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.727C>T	18.37:g.55024568C>T	ENSP00000320431:p.Leu243Phe						p.L243F	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	1084	+			243			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.727C>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774614	0.49786	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.32753	1.44	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.45285	1.41	0.80722	D	1	P	0.51537	0.946	P	0.54210	0.745	T	0.06607	-1.0817	10	0.44086	T	0.13	-4.125	19.7585	0.96304	0.0:1.0:0.0:0.0	.	243	O43173	SIA8C_HUMAN	F	350;243	ENSP00000320431:L243F	ENSP00000320431:L243F	L	+	1	0	ST8SIA3	53175566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.723000	0.68492	2.773000	0.95371	0.655000	0.94253	CTT		PASS	0.413	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		11	29	11	29	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55398971	55398971	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:55398971G>T	ENST00000283684.4	-	1	68	c.69C>A	c.(67-69)ccC>ccA	p.P23P	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.P23P|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	23					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.P23P(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CATCACTGTAGGGAACCACTT	0.463																																						uc002lgw.2																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(67-69)CCC>CCA		ATPase, class I, type 8B, member 1							306.0	286.0	293.0					18																	55398971		2203	4300	6503	SO:0001819	synonymous_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55398971G>T	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.69C>A	18.37:g.55398971G>T						uc002lgv.1_RNA	p.P23P	NM_005603	NP_005594	O43520	AT8B1_HUMAN			1	69	-		Colorectal(73;0.229)	23			Cytoplasmic (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.69C>A	CCDS11965.1																																																																																				PASS	0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		5	126	5	126	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992303	55992303	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:55992303C>T	ENST00000400345.3	+	9	872	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	NEDD4L_ENST00000456173.2_Missense_Mutation_p.P76S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.P189S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.P76S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.P76S|NEDD4L_ENST00000586263.1_Missense_Mutation_p.P189S|NEDD4L_ENST00000256830.9_Missense_Mutation_p.P197S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.P76S|NEDD4L_ENST00000456986.1_Missense_Mutation_p.P76S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.P197S|NEDD4L_ENST00000356462.6_Missense_Mutation_p.P197S	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	197	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.P197S(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCCTCTGCCTCCCGGGTGGGA	0.507																																						uc002lgy.2																			2	Substitution - Missense(2)		lung(2)	lung(4)	4						c.(589-591)CCC>TCC		neural precursor cell expressed, developmentally							186.0	188.0	188.0					18																	55992303		2024	4173	6197	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992303C>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.589C>T	18.37:g.55992303C>T	ENSP00000383199:p.Pro197Ser					NEDD4L_uc002lgz.2_Missense_Mutation_p.P197S|NEDD4L_uc002lgx.2_Missense_Mutation_p.P197S|NEDD4L_uc010xee.1_Missense_Mutation_p.P76S|NEDD4L_uc002lhc.2_Missense_Mutation_p.P189S|NEDD4L_uc002lhd.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhb.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhe.2_Missense_Mutation_p.P189S|NEDD4L_uc002lhf.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhg.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhh.2_Missense_Mutation_p.P76S|NEDD4L_uc010dpm.1_Missense_Mutation_p.P48S	p.P197S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			9	863	+			197			WW 1.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.589C>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798332	0.70567	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	D;D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.51	5.51	0.81932	WW/Rsp5/WWP (5);	0.050222	0.85682	D	0.000000	D	0.86535	0.5956	L	0.33753	1.03	0.80722	D	1	D;B;B;P;P;B;B	0.58268	0.982;0.046;0.155;0.805;0.649;0.187;0.046	P;B;B;P;B;B;B	0.58077	0.832;0.089;0.119;0.575;0.273;0.304;0.089	T	0.83279	-0.0039	10	0.21540	T	0.41	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	197;189;189;76;197;197;197	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	S	197;197;197;197;76;76;189;76;76;76	ENSP00000383199:P197S;ENSP00000372301:P197S;ENSP00000348847:P197S;ENSP00000256830:P197S;ENSP00000256832:P76S;ENSP00000411947:P76S;ENSP00000350569:P189S;ENSP00000393395:P76S;ENSP00000405440:P76S;ENSP00000389406:P76S	ENSP00000256830:P197S	P	+	1	0	NEDD4L	54143283	1.000000	0.71417	0.952000	0.39060	0.982000	0.71751	5.714000	0.68422	2.600000	0.87896	0.655000	0.94253	CCC		PASS	0.507	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			41	129	41	129	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56203022	56203022	+	Missense_Mutation	SNP	C	C	T	rs386803722		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:56203022C>T	ENST00000361673.3	-	5	4610	c.4397G>A	c.(4396-4398)aGa>aAa	p.R1466K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1466						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R1466K(1)|p.R827K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTGCTGATTCTATTTTCACT	0.498																																						uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(4396-4398)AGA>AAA		heart alpha-kinase							54.0	56.0	55.0					18																	56203022		2202	4300	6502	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203022C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4397G>A	18.37:g.56203022C>T	ENSP00000354991:p.Arg1466Lys					ALPK2_uc002lhk.1_Missense_Mutation_p.R797K	p.R1466K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4611	-			1466					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.4397G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148498	0.21288	.	.	ENSG00000198796	ENST00000361673	T	0.42131	0.98	4.17	-1.85	0.07784	.	5.015600	0.00166	N	0.000004	T	0.26846	0.0657	L	0.36672	1.1	0.09310	N	1	B;B	0.30406	0.278;0.072	B;B	0.25291	0.059;0.011	T	0.03202	-1.1061	10	0.20046	T	0.44	0.5094	0.7419	0.00975	0.2317:0.2611:0.304:0.2033	.	1461;1466	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	K	1466	ENSP00000354991:R1466K	ENSP00000354991:R1466K	R	-	2	0	ALPK2	54354002	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.494000	0.06451	-0.288000	0.09051	0.467000	0.42956	AGA		PASS	0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		18	44	18	44	---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038584	58038584	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:58038584T>C	ENST00000299766.3	-	1	1417	c.999A>G	c.(997-999)taA>taG	p.*333*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.*333*(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CTGTCCCCATTTAATATCTGC	0.428																																						uc002lie.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(997-999)TAA>TAG		melanocortin 4 receptor							112.0	111.0	111.0					18																	58038584		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038584T>C	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.999A>G	18.37:g.58038584T>C							p.*333*	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1418	-		Colorectal(73;0.0946)	333					B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.999A>G	CCDS11976.1																																																																																				PASS	0.428	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		31	59	31	59	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59947641	59947641	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:59947641C>T	ENST00000398130.2	+	23	3248	c.3016C>T	c.(3016-3018)Ccg>Tcg	p.P1006S	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1006								p.P1006S(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCGGGTTGCTCCGGCCCTTGT	0.443																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(3016-3018)CCG>TCG		hypothetical protein LOC57614							123.0	112.0	115.0					18																	59947641		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59947641C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3016C>T	18.37:g.59947641C>T	ENSP00000381198:p.Pro1006Ser					KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron	p.P1006S	NM_020854	NP_065905	Q9P260	K1468_HUMAN			23	3231	+		Colorectal(73;0.186)	1006			HEAT 3.			Missense_Mutation	SNP	ENST00000398130.2	37	c.3016C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471614	0.84533	.	.	ENSG00000134444	ENST00000398130	T	0.71579	-0.58	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84011	0.0348	9	.	.	.	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	1006	Q9P260	K1468_HUMAN	S	1006	ENSP00000381198:P1006S	.	P	+	1	0	KIAA1468	58098621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	2.835000	0.97688	0.591000	0.81541	CCG		PASS	0.443	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		7	51	7	51	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61233932	61233932	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:61233932C>T	ENST00000269491.1	+	7	906	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SERPINB12_ENST00000382768.1_Silent_p.F322F	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	302					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F302F(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCCCCGGTTCACCCTGGAAG	0.448																																						uc010xen.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(904-906)TTC>TTT		serine (or cysteine) proteinase inhibitor, clade							183.0	179.0	181.0					18																	61233932		2203	4300	6503	SO:0001819	synonymous_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61233932C>T	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.906C>T	18.37:g.61233932C>T						SERPINB12_uc010xeo.1_Silent_p.F322F	p.F302F	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			7	906	+			302					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.906C>T	CCDS11984.1																																																																																				PASS	0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		73	110	73	110	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61387384	61387384	+	RNA	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:61387384A>G	ENST00000382749.5	+	0	858				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S205G(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TTTTCAGCTAAGTGAGGTAAG	0.318																																					Ovarian(27;496 784 5942 8975 23930)	uc002ljk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(613-615)AGT>GGT		serpin peptidase inhibitor, clade B, member 11							45.0	47.0	46.0					18																	61387384		1825	4080	5905			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61387384A>G			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387384A>G						SERPINB11_uc010xes.1_Missense_Mutation_p.S30G|SERPINB11_uc010dqd.2_Missense_Mutation_p.S91G|SERPINB11_uc002ljj.3_Missense_Mutation_p.S91G|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron	p.S205G	NM_080475	NP_536723	Q96P15	SPB11_HUMAN			7	675	+		Esophageal squamous(42;0.129)	205					A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37	c.613A>G		.	.	.	.	.	.	.	.	.	.	A	13.96	2.394344	0.42410	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.83419	-1.72;-1.72	5.62	0.239	0.15484	Serpin domain (3);	.	.	.	.	T	0.71693	0.3370	L	0.39147	1.195	0.09310	N	0.99999	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.10450	0.003;0.003;0.005	T	0.60342	-0.7282	9	0.66056	D	0.02	.	2.1978	0.03916	0.5642:0.1191:0.2019:0.1148	.	30;205;205	F5GWT8;F5GYW9;Q96P15	.;.;SPB11_HUMAN	G	205;30	ENSP00000441497:S205G;ENSP00000441708:S30G	ENSP00000421854:S205G	S	+	1	0	SERPINB11	59538364	0.003000	0.15002	0.634000	0.29324	0.827000	0.46813	1.860000	0.39428	-0.105000	0.12132	0.533000	0.62120	AGT		PASS	0.318	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		10	16	10	16	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61570516	61570516	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:61570516T>A	ENST00000299502.4	+	8	1305	c.1225T>A	c.(1225-1227)Ttc>Atc	p.F409I	SERPINB2_ENST00000457692.1_Missense_Mutation_p.F409I	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	409					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.F409I(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)	CATTTTATTTTTCGGCAGATT	0.393																																						uc010xeu.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1225-1227)TTC>ATC		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						61.0	69.0	66.0					18																	61570516		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.chr18:61570516T>A	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.1225T>A	18.37:g.61570516T>A	ENSP00000299502:p.Phe409Ile					SERPINB2_uc002ljo.2_Missense_Mutation_p.F409I|SERPINB2_uc010dqh.2_Missense_Mutation_p.F339I|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	p.F409I	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			9	1558	+		Esophageal squamous(42;0.131)	409					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.1225T>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	T	6.711	0.499955	0.12762	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.83419	-1.72;-1.72	5.51	1.49	0.22878	Serpin domain (3);	0.985697	0.08332	N	0.962082	T	0.67951	0.2948	N	0.13003	0.285	0.36804	D	0.885529	B	0.32653	0.379	B	0.28232	0.087	T	0.58092	-0.7697	10	0.46703	T	0.11	.	7.7893	0.29110	0.1271:0.0:0.2807:0.5922	.	409	P05120	PAI2_HUMAN	I	409	ENSP00000299502:F409I;ENSP00000401645:F409I	ENSP00000299502:F409I	F	+	1	0	SERPINB2	59721496	0.855000	0.29742	0.519000	0.27824	0.058000	0.15608	1.723000	0.38053	0.069000	0.16605	0.377000	0.23210	TTC		PASS	0.393	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		24	38	24	38	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63511245	63511245	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:63511245G>A	ENST00000397968.2	+	7	1605	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	CDH7_ENST00000323011.3_Silent_p.G393G|CDH7_ENST00000536984.2_Silent_p.G393G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G393G(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCCAGGTTGGGAATATCATTG	0.448																																						uc002ljz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1177-1179)GGG>GGA		cadherin 7, type 2 preproprotein							163.0	140.0	148.0					18																	63511245		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511245G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1179G>A	18.37:g.63511245G>A						CDH7_uc002lka.2_Silent_p.G393G|CDH7_uc002lkb.2_Silent_p.G393G	p.G393G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1504	+		Esophageal squamous(42;0.129)	393			Extracellular (Potential).|Cadherin 4.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1179G>A	CCDS11993.1																																																																																				PASS	0.448	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		25	65	25	65	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63547737	63547737	+	Silent	SNP	C	C	T	rs116347805		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:63547737C>T	ENST00000397968.2	+	12	2391	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDH7_ENST00000323011.3_Silent_p.D655D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	655					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.D655D(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATACGATGACGAGGGCGGGG	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18114	0.0		0.0	False		,,,				2504	0.0					uc002ljz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1963-1965)GAC>GAT		cadherin 7, type 2 preproprotein							69.0	71.0	70.0					18																	63547737		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547737C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1965C>T	18.37:g.63547737C>T						CDH7_uc002lkb.2_Silent_p.D655D	p.D655D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2290	+		Esophageal squamous(42;0.129)	655			Cytoplasmic (Potential).		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1965C>T	CCDS11993.1																																																																																				PASS	0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		14	23	14	23	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63548017	63548017	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:63548017G>A	ENST00000397968.2	+	12	2671	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	CDH7_ENST00000323011.3_Missense_Mutation_p.D749N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	749					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.D749N(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGCTCTTTAGATTCCATCAG	0.473																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2245-2247)GAT>AAT		cadherin 7, type 2 preproprotein							92.0	95.0	94.0					18																	63548017		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63548017G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2245G>A	18.37:g.63548017G>A	ENSP00000381058:p.Asp749Asn					CDH7_uc002lkb.2_Missense_Mutation_p.D749N	p.D749N	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2570	+		Esophageal squamous(42;0.129)	749			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2245G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506233	0.64410	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.75367	-0.93;-0.93	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.408437	0.26828	N	0.022293	T	0.65471	0.2694	N	0.25485	0.75	0.58432	D	0.999999	B	0.12630	0.006	B	0.12837	0.008	T	0.58797	-0.7573	10	0.31617	T	0.26	.	19.1123	0.93321	0.0:0.0:1.0:0.0	.	749	Q9ULB5	CADH7_HUMAN	N	749	ENSP00000319166:D749N;ENSP00000381058:D749N	ENSP00000319166:D749N	D	+	1	0	CDH7	61698997	1.000000	0.71417	0.628000	0.29241	0.964000	0.63967	6.576000	0.74023	2.515000	0.84797	0.655000	0.94253	GAT		PASS	0.473	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		31	42	31	42	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64211222	64211222	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:64211222C>T	ENST00000540086.1	-	7	1446	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	CDH19_ENST00000262150.2_Silent_p.R400R	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	504	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R400R(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TAGGAGATTTCCTATTGTCTG	0.333																																						uc002lkc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1198-1200)AGG>AGA		cadherin 19, type 2 preproprotein																																				SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211222C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1200G>A	18.37:g.64211222C>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.R400R|CDH19_uc002lkd.2_Silent_p.R400R	p.R400R	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			7	1338	-		Esophageal squamous(42;0.0132)	400			Cadherin 4.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000540086.1	37	c.1200G>A	CCDS59325.1																																																																																				PASS	0.333	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		9	35	9	35	---	---	---	---
CD226	10666	broad.mit.edu	37	18	67562970	67562970	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:67562970C>T	ENST00000280200.4	-	4	962	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CD226_ENST00000582621.1_Missense_Mutation_p.E232K|CD226_ENST00000577287.1_Missense_Mutation_p.E77K|CD226_ENST00000581982.1_Missense_Mutation_p.E77K	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	232	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.E232K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACGAAGGTTTCGTTTTCTCCT	0.562																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(694-696)GAA>AAA		CD226 molecule precursor							140.0	141.0	141.0					18																	67562970		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562970C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.694G>A	18.37:g.67562970C>T	ENSP00000280200:p.Glu232Lys					CD226_uc002lkm.3_Missense_Mutation_p.E232K	p.E232K	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	1141	-		Esophageal squamous(42;0.129)	232			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.694G>A	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041596	0.35989	.	.	ENSG00000150637	ENST00000280200	T	0.11712	2.75	4.82	3.0	0.34707	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.865498	0.10488	N	0.668752	T	0.09949	0.0244	L	0.42245	1.32	0.09310	N	1	P	0.38565	0.637	B	0.39339	0.297	T	0.29088	-1.0023	10	0.18276	T	0.48	.	6.5803	0.22589	0.0:0.7811:0.0:0.2189	.	232	Q15762	CD226_HUMAN	K	232	ENSP00000280200:E232K	ENSP00000280200:E232K	E	-	1	0	CD226	65713950	0.003000	0.15002	0.003000	0.11579	0.008000	0.06430	0.434000	0.21494	0.722000	0.32252	0.650000	0.86243	GAA		PASS	0.562	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		38	89	38	89	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417313	70417313	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:70417313C>T	ENST00000327305.6	-	9	2182	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	NETO1_ENST00000583169.1_Missense_Mutation_p.D509N|NETO1_ENST00000299430.2_Missense_Mutation_p.D508N|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	509					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.D509N(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ACGGCTTTATCGTGTCTGGAC	0.438																																						uc002lkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1525-1527)GAT>AAT		neuropilin- and tolloid-like protein 1 isoform 3							92.0	80.0	84.0					18																	70417313		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417313C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1525G>A	18.37:g.70417313C>T	ENSP00000313088:p.Asp509Asn					NETO1_uc002lkx.1_Missense_Mutation_p.D508N|NETO1_uc002lky.1_Missense_Mutation_p.D509N	p.D509N	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1809	-		Esophageal squamous(42;0.129)	509			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1525G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016065	0.75161	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.25912	1.77;1.77	5.76	5.76	0.90799	.	0.502361	0.18910	N	0.127797	T	0.19446	0.0467	N	0.19112	0.55	0.80722	D	1	B;P	0.35551	0.33;0.509	B;B	0.26969	0.039;0.075	T	0.07083	-1.0791	10	0.87932	D	0	-32.086	19.973	0.97292	0.0:1.0:0.0:0.0	.	508;509	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	N	509;508	ENSP00000313088:D509N;ENSP00000299430:D508N	ENSP00000299430:D508N	D	-	1	0	NETO1	68568293	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	GAT		PASS	0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		18	28	18	28	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70532042	70532042	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:70532042C>T	ENST00000327305.6	-	3	878		c.e3+1		NETO1_ENST00000580049.1_Splice_Site|NETO1_ENST00000397929.1_Splice_Site|NETO1_ENST00000583169.1_Splice_Site|NETO1_ENST00000299430.2_Splice_Site	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.?(2)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTCCCCTTACCTTCTATGAT	0.448																																						uc002lkw.2																			2	Unknown(2)		lung(2)	ovary(2)|skin(2)	4						c.e3+1		neuropilin- and tolloid-like protein 1 isoform 3							109.0	99.0	103.0					18																	70532042		2203	4300	6503	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532042C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.220+1G>A	18.37:g.70532042C>T						NETO1_uc002lkx.1_Splice_Site_p.A73_splice|NETO1_uc002lky.1_Splice_Site_p.A74_splice|NETO1_uc002lkz.2_Splice_Site_p.A73_splice	p.A74_splice	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	3	504	-		Esophageal squamous(42;0.129)						Q86W85|Q8ND78|Q8TDF4	Splice_Site	SNP	ENST00000327305.6	37	c.220_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280836	0.80692	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2216	0.98326	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO1	68683022	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	.		PASS	0.448	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Intron	12	33	12	33	---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74091512	74091512	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:74091512G>A	ENST00000443185.2	-	4	2875	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	853					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.P853L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACTCCCAGGGGAGAAGAGCC	0.627																																						uc010dqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2557-2559)CCC>CTC		zinc finger protein 516							64.0	77.0	73.0					18																	74091512		1922	4131	6053	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091512G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2558C>T	18.37:g.74091512G>A	ENSP00000394757:p.Pro853Leu					ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	p.P853L	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	2793	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	853						Missense_Mutation	SNP	ENST00000443185.2	37	c.2558C>T		.	.	.	.	.	.	.	.	.	.	G	11.78	1.741943	0.30865	.	.	ENSG00000101493	ENST00000443185	T	0.14391	2.51	4.31	4.31	0.51392	.	0.670897	0.14702	N	0.303461	T	0.20210	0.0486	.	.	.	0.24058	N	0.996026	D	0.60575	0.988	P	0.49140	0.601	T	0.05616	-1.0874	9	0.87932	D	0	-15.3025	12.3178	0.54966	0.0:0.17:0.83:0.0	.	853	Q92618	ZN516_HUMAN	L	853	ENSP00000394757:P853L	ENSP00000394757:P853L	P	-	2	0	ZNF516	72220500	0.926000	0.31397	0.065000	0.19835	0.086000	0.17979	3.088000	0.50175	2.387000	0.81309	0.561000	0.74099	CCC		PASS	0.627	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		19	34	19	34	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754623	76754623	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:76754623G>A	ENST00000537592.2	+	2	2632	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	SALL3_ENST00000536229.3_Missense_Mutation_p.D745N|SALL3_ENST00000575389.2_Missense_Mutation_p.D878N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	878					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.D878N(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGAGCAACGACTCCTCGTC	0.687																																						uc002lmt.2																			2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2632-2634)GAC>AAC		sal-like 3							27.0	29.0	28.0					18																	76754623		2198	4289	6487	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754623G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2632G>A	18.37:g.76754623G>A	ENSP00000441823:p.Asp878Asn					SALL3_uc010dra.2_Missense_Mutation_p.D485N	p.D878N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2632	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	878					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2632G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097453	0.37048	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11063	2.81	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000014	T	0.34221	0.0890	M	0.73962	2.25	0.80722	D	1	P;D	0.89917	0.938;1.0	P;D	0.64410	0.454;0.925	T	0.03077	-1.1075	10	0.59425	D	0.04	-64.4891	19.4094	0.94662	0.0:0.0:1.0:0.0	.	610;878	F5GXY4;Q9BXA9	.;SALL3_HUMAN	N	878;878;610	ENSP00000441823:D878N	ENSP00000299466:D878N	D	+	1	0	SALL3	74855611	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	9.787000	0.99055	2.583000	0.87209	0.561000	0.74099	GAC		PASS	0.687	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	21	14	21	---	---	---	---
ATP9B	374868	broad.mit.edu	37	18	76870492	76870492	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:76870492C>T	ENST00000426216.2	+	3	448	c.431C>T	c.(430-432)aCc>aTc	p.T144I	ATP9B_ENST00000307671.7_Missense_Mutation_p.T144I|ATP9B_ENST00000586722.1_Missense_Mutation_p.T144I|ATP9B_ENST00000458297.2_Missense_Mutation_p.T92I|ATP9B_ENST00000591464.1_Intron	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	144					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|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.T144I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AATGTGTTTACCTTTATACCT	0.408																																						uc002lmx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(430-432)ACC>ATC		ATPase, class II, type 9B							54.0	61.0	58.0					18																	76870492		2199	4300	6499	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76870492C>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.431C>T	18.37:g.76870492C>T	ENSP00000398076:p.Thr144Ile					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.T144I|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'Flank|ATP9B_uc002lmu.2_Missense_Mutation_p.T144I	p.T144I	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	3	445	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	144			Cytoplasmic (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.431C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594177	0.86953	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.76839	-1.05;-1.05;-1.05	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.80764	0.964;0.984;0.994	D	0.92548	0.6047	10	0.87932	D	0	.	19.4317	0.94772	0.0:1.0:0.0:0.0	.	144;144;144	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	I	67;144;144;92	ENSP00000398076:T144I;ENSP00000304500:T144I;ENSP00000442794:T92I	ENSP00000304500:T144I	T	+	2	0	ATP9B	74971480	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.332000	0.79203	2.599000	0.87857	0.561000	0.74099	ACC		PASS	0.408	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		18	21	18	21	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77211800	77211800	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:77211800C>T	ENST00000427363.2	+	6	1887	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	NFATC1_ENST00000591814.1_Silent_p.F629F|NFATC1_ENST00000253506.5_Silent_p.F629F|NFATC1_ENST00000397790.2_Silent_p.F157F|NFATC1_ENST00000587635.1_Missense_Mutation_p.S601L|NFATC1_ENST00000329101.4_Silent_p.F616F|NFATC1_ENST00000545796.1_Silent_p.F157F|NFATC1_ENST00000318065.5_Silent_p.F616F|NFATC1_ENST00000542384.1_Silent_p.F629F|NFATC1_ENST00000586434.1_Silent_p.F616F|NFATC1_ENST00000592223.1_Silent_p.F616F			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	629					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F616F(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AGGTCATTTTCGTGGAGAAAG	0.622																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1885-1887)TTC>TTT		nuclear factor of activated T-cells, cytosolic							97.0	95.0	95.0					18																	77211800		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77211800C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1887C>T	18.37:g.77211800C>T						NFATC1_uc002lnc.1_Silent_p.F629F|NFATC1_uc010xff.1_Missense_Mutation_p.S601L|NFATC1_uc002lnd.2_Silent_p.F629F|NFATC1_uc002lne.2_Silent_p.F157F|NFATC1_uc010xfh.1_Silent_p.F629F|NFATC1_uc010xfi.1_Silent_p.F616F|NFATC1_uc010xfj.1_Silent_p.F157F|NFATC1_uc002lnf.2_Silent_p.F616F|NFATC1_uc002lng.2_Silent_p.F616F|NFATC1_uc010xfk.1_Silent_p.F616F	p.F629F	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	6	2340	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	629					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1887C>T																																																																																					PASS	0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		22	48	22	48	---	---	---	---
RBFA	79863	broad.mit.edu	37	18	77805900	77805900	+	Silent	SNP	C	C	T	rs148332133		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr18:77805900C>T	ENST00000306735.5	+	7	915	c.777C>T	c.(775-777)ctC>ctT	p.L259L	RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.S231L	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	259					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.L259L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATAAAGGGCTCGGGGGCCTGG	0.582																																						uc002lns.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)CTC>CTT		hypothetical protein LOC79863 precursor		C	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	58.0	70.0	66.0		692,777	-9.0	0.0	18	dbSNP_134	66	0,8600		0,0,4300	no	missense,coding-synonymous	RBFA	NM_001171967.1,NM_024805.2	145,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	231/243,259/344	77805900	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77805900C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.777C>T	18.37:g.77805900C>T						C18orf22_uc010drh.2_Missense_Mutation_p.S231L|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Silent_p.L92L|uc002lnu.2_5'Flank	p.L259L	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	7	915	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	259					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.777C>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.945069	0.34283	2.27E-4	0.0	ENSG00000101546	ENST00000262197	T	0.54071	0.59	4.49	-8.97	0.00758	.	.	.	.	.	T	0.33030	0.0849	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31392	-0.9945	8	0.87932	D	0	-14.8906	3.7632	0.08611	0.0778:0.3194:0.233:0.3698	.	231	Q8N0V3-2	.	L	231	ENSP00000262197:S231L	ENSP00000262197:S231L	S	+	2	0	RBFA	75906888	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.182000	0.00568	-3.496000	0.00152	-2.918000	0.00090	TCG		PASS	0.582	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		21	42	21	42	---	---	---	---
HCN2	610	broad.mit.edu	37	19	608089	608089	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:608089G>A	ENST00000251287.2	+	4	1397	c.1344G>A	c.(1342-1344)atG>atA	p.M448I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	448					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M448I(1)		endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCAGCATGATTGTGGGTG	0.627																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1342-1344)ATG>ATA		hyperpolarization activated cyclic							102.0	85.0	91.0					19																	608089		2203	4300	6503	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:608089G>A	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1344G>A	19.37:g.608089G>A	ENSP00000251287:p.Met448Ile						p.M448I	NM_001194	NP_001185	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1397	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	448			Helical; Name=Segment S6; (Potential).		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.1344G>A	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	19.19	3.779162	0.70107	.	.	ENSG00000099822	ENST00000251287	D	0.98105	-4.72	3.13	3.13	0.36017	Ion transport (1);	.	.	.	.	D	0.97639	0.9226	M	0.75150	2.29	0.80722	D	1	P	0.38048	0.616	P	0.48334	0.574	D	0.98936	1.0789	9	0.87932	D	0	.	13.7103	0.62665	0.0:0.0:1.0:0.0	.	448	Q9UL51	HCN2_HUMAN	I	448	ENSP00000251287:M448I	ENSP00000251287:M448I	M	+	3	0	HCN2	559089	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.472000	0.97709	1.723000	0.51488	0.505000	0.49811	ATG		PASS	0.627	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		12	31	12	31	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1004824	1004824	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:1004824G>A	ENST00000234389.3	+	3	1343	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	442					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.G442R(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGCCCAGCGGGGCAGCTGTG	0.667																																						uc002lqo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)GGG>AGG		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						49.0	49.0	49.0					19																	1004824		2203	4297	6500	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004824G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1324G>A	19.37:g.1004824G>A	ENSP00000234389:p.Gly442Arg						p.G442R	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1324	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	442			Extracellular (Potential).		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1324G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924915	0.34002	.	.	ENSG00000116032	ENST00000234389	T	0.14391	2.51	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.17195	0.0413	M	0.79258	2.445	0.58432	D	0.999995	P	0.48503	0.911	B	0.33042	0.157	T	0.19582	-1.0301	10	0.62326	D	0.03	.	16.0539	0.80782	0.0:0.0:1.0:0.0	.	442	O60391	NMD3B_HUMAN	R	442	ENSP00000234389:G442R	ENSP00000234389:G442R	G	+	1	0	GRIN3B	955824	1.000000	0.71417	0.779000	0.31741	0.177000	0.22998	7.251000	0.78297	2.146000	0.66826	0.485000	0.47835	GGG		PASS	0.667	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			12	12	12	12	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2102253	2102253	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:2102253G>A	ENST00000345016.5	-	30	3612	c.3381C>T	c.(3379-3381)gtC>gtT	p.V1127V	AP3D1_ENST00000356926.4_Silent_p.V1086V|AP3D1_ENST00000350812.6_Silent_p.V958V|AP3D1_ENST00000355272.6_Silent_p.V1189V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.V1127V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCGACTGAGACAGAGTTCT	0.527																																						uc002luz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3379-3381)GTC>GTT		adaptor-related protein complex 3, delta 1							107.0	110.0	109.0					19																	2102253		1983	4159	6142	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2102253G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3381C>T	19.37:g.2102253G>A						AP3D1_uc010dsv.2_Silent_p.V217V|AP3D1_uc002luy.2_Silent_p.V1086V|AP3D1_uc002lva.2_Silent_p.V1189V	p.V1127V	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	30	3604	-		Hepatocellular(1079;0.137)	1127					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.3381C>T	CCDS42459.1																																																																																				PASS	0.527	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			28	45	28	45	---	---	---	---
AP3D1	8943	broad.mit.edu	37	19	2121814	2121814	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:2121814G>A	ENST00000345016.5	-	12	1251	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	AP3D1_ENST00000356926.4_Silent_p.S249S|AP3D1_ENST00000350812.6_Silent_p.S171S|AP3D1_ENST00000355272.6_Silent_p.S340S|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	340					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.S340S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCTTGTGGGACTGCACGG	0.637																																						uc002luz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1018-1020)TCC>TCT		adaptor-related protein complex 3, delta 1							128.0	146.0	140.0					19																	2121814		2137	4221	6358	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121814G>A	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1020C>T	19.37:g.2121814G>A						AP3D1_uc002luy.2_Silent_p.S249S|AP3D1_uc002lva.2_Silent_p.S340S	p.S340S	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1243	-		Hepatocellular(1079;0.137)	340			HEAT 7.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1020C>T	CCDS42459.1																																																																																				PASS	0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			21	53	21	53	---	---	---	---
SLC39A3	29985	broad.mit.edu	37	19	2733004	2733004	+	Silent	SNP	G	G	A	rs377564224		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:2733004G>A	ENST00000269740.4	-	3	1019	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SLC39A3_ENST00000545664.1_Silent_p.A230A|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	230					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A230A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CCGCCAGCTTGGCCGCGTCCC	0.721																																						uc002lwg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)GCC>GCT		solute carrier family 39 (zinc transporter),		G		0,4380		0,0,2190	19.0	23.0	21.0		690	4.7	1.0	19		21	1,8579		0,1,4289	no	coding-synonymous	SLC39A3	NM_144564.4		0,1,6479	AA,AG,GG		0.0117,0.0,0.0077		230/315	2733004	1,12959	2190	4290	6480	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733004G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.690C>T	19.37:g.2733004G>A						SLC39A3_uc010xgy.1_Silent_p.A230A	p.A230A	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	944	-		Hepatocellular(1079;0.137)	230			Helical; (Potential).		B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.690C>T	CCDS12093.1																																																																																				PASS	0.721	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			5	10	5	10	---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2799764	2799764	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:2799764C>T	ENST00000307741.6	+	5	767	c.564C>T	c.(562-564)ttC>ttT	p.F188F	THOP1_ENST00000586677.1_Silent_p.F67F	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	188					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.F188F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		ACACGACCTTCCTGCCCTTCA	0.617																																						uc002lwj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(562-564)TTC>TTT		thimet oligopeptidase 1							140.0	101.0	114.0					19																	2799764		2203	4300	6503	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2799764C>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.564C>T	19.37:g.2799764C>T						THOP1_uc010xgz.1_Silent_p.F67F	p.F188F	NM_003249	NP_003240	P52888	THOP1_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)	5	719	+			188					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.564C>T	CCDS12095.1																																																																																				PASS	0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			10	35	10	35	---	---	---	---
ZNF77	58492	broad.mit.edu	37	19	2934407	2934407	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:2934407G>A	ENST00000314531.4	-	4	810	c.718C>T	c.(718-720)Cat>Tat	p.H240Y		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H240Y(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACATGCATGGGTTTTCTGC	0.418																																						uc002lws.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(718-720)CAT>TAT		zinc finger protein 77							69.0	68.0	68.0					19																	2934407		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934407G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.718C>T	19.37:g.2934407G>A	ENSP00000319053:p.His240Tyr						p.H240Y	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	849	-			240			C2H2-type 2.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.718C>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.543114	0.00934	.	.	ENSG00000175691	ENST00000314531	T	0.24151	1.87	3.08	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08802	0.0218	N	0.11313	0.125	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.35895	-0.9770	9	0.02654	T	1	.	2.3016	0.04163	0.3809:0.0:0.3885:0.2306	.	240	Q15935	ZNF77_HUMAN	Y	240	ENSP00000319053:H240Y	ENSP00000319053:H240Y	H	-	1	0	ZNF77	2885407	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.371000	0.20450	0.106000	0.17784	0.491000	0.48974	CAT		PASS	0.418	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		12	16	12	16	---	---	---	---
TBXA2R	6915	broad.mit.edu	37	19	3600403	3600403	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:3600403C>T	ENST00000375190.4	-	2	623	c.230G>A	c.(229-231)gGg>gAg	p.G77E	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.G77E|TBXA2R_ENST00000411851.3_Missense_Mutation_p.G77E	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	77					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)	p.G77E(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CACCAGCAGCCCCAGGAAGTC	0.701																																						uc002lyg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)GGG>GAG		thromboxane A2 receptor isoform alpha	Ridogrel(DB01207)						34.0	51.0	45.0					19																	3600403		2166	4239	6405	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600403C>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.230G>A	19.37:g.3600403C>T	ENSP00000364336:p.Gly77Glu					TBXA2R_uc002lye.1_Missense_Mutation_p.G77E	p.G77E	NM_001060	NP_001051	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	444	-		Hepatocellular(1079;0.137)	77			Helical; Name=2; (Potential).		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.230G>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877835	0.91664	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.72282	-0.64;-0.64	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89410	0.3702	10	0.87932	D	0	-29.308	15.9021	0.79387	0.0:1.0:0.0:0.0	.	77;77	P21731;E2QRJ2	TA2R_HUMAN;.	E	77	ENSP00000393333:G77E;ENSP00000364336:G77E	ENSP00000364336:G77E	G	-	2	0	TBXA2R	3551403	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.619000	0.83057	2.144000	0.66660	0.313000	0.20887	GGG		PASS	0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			6	14	6	14	---	---	---	---
ATCAY	85300	broad.mit.edu	37	19	3905454	3905454	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:3905454C>T	ENST00000450849.2	+	4	626	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ATCAY_ENST00000398448.3_Silent_p.F59F|ATCAY_ENST00000600960.1_Silent_p.F53F|ATCAY_ENST00000301260.6_Silent_p.F53F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	53					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.F53F(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGCTAAATTTCAACGGAGCGC	0.488																																						uc002lyy.3																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(157-159)TTC>TTT		caytaxin							44.0	45.0	44.0					19																	3905454		1946	4129	6075	SO:0001819	synonymous_variant	85300				transport		protein binding	g.chr19:3905454C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.159C>T	19.37:g.3905454C>T						ATCAY_uc010xhz.1_Silent_p.F59F	p.F53F	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	4	589	+		Hepatocellular(1079;0.137)	53					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.159C>T	CCDS45923.1																																																																																				PASS	0.488	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			5	19	5	19	---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4219746	4219747	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:4219746_4219747GG>AA	ENST00000600132.1	+	19	3438_3439	c.3162_3163GG>AA	c.(3160-3165)aaGGac>aaAAac	p.D1055N	ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1145N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1055N	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1055								p.D1145N(2)|p.D1055N(2)|p.D620N(2)|p.K619K(1)|p.K1054K(1)|p.K1144K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAAGGAGAAGGACAAGAAGGT	0.644																																						uc010dtt.1																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)		0						c.(3160-3162)AAG>AAA|c.(3163-3165)GAC>AAC		ankyrin repeat domain 24																																				SO:0001583	missense	170961							g.chr19:4219746G>A|g.chr19:4219747G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		Exception_encountered	19.37:g.4219746_4219747delinsAA	ENSP00000471252:p.Asp1055Asn						p.K1054K|p.D1055N	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3438|3439	+			1054|1055			Potential.		O75268|O95781	Silent|Missense_Mutation	SNP	ENST00000600132.1	37	c.3162G>A|c.3163G>A	CCDS45925.1																																																																																				PASS	0.644	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		6	16|17	6	16	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4511781	4511781	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:4511781C>T	ENST00000301286.3	-	3	2148	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	717	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.D717N(1)|p.D645N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAGACGGTGTCCTTGGTACCA	0.577																																						uc002mar.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2149-2151)GAC>AAC		plasma membrane associated protein, S3-12							229.0	235.0	233.0					19																	4511781		2107	4224	6331	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511781C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2149G>A	19.37:g.4511781C>T	ENSP00000301286:p.Asp717Asn					PLIN4_uc010dub.1_5'Flank	p.D717N	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	2149	-			717			19.|27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2149G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136660	0.21123	.	.	ENSG00000167676	ENST00000301286	T	0.08282	3.11	4.59	2.45	0.29901	.	0.000000	0.44688	U	0.000428	T	0.11110	0.0271	M	0.84683	2.71	0.26429	N	0.975963	B	0.12013	0.005	B	0.16722	0.016	T	0.47674	-0.9099	10	0.06236	T	0.91	-20.7039	9.3006	0.37842	0.0:0.8201:0.0:0.1799	.	717	Q96Q06	PLIN4_HUMAN	N	717	ENSP00000301286:D717N	ENSP00000301286:D717N	D	-	1	0	PLIN4	4462781	0.006000	0.16342	0.513000	0.27749	0.026000	0.11368	0.412000	0.21131	0.381000	0.24851	0.205000	0.17691	GAC		PASS	0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		42	209	42	209	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5144825	5144825	+	Missense_Mutation	SNP	C	C	T	rs267605545		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:5144825C>T	ENST00000159111.4	+	21	3151	c.2933C>T	c.(2932-2934)tCc>tTc	p.S978F	KDM4B_ENST00000536461.1_Missense_Mutation_p.S1012F	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	978	Tudor 2.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.S978F(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGACCCCCTTCCGAGGGGGAG	0.622																																						uc002mbq.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(1)	1						c.(2932-2934)TCC>TTC		jumonji domain containing 2B							61.0	58.0	59.0					19																	5144825		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5144825C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2933C>T	19.37:g.5144825C>T	ENSP00000159111:p.Ser978Phe					KDM4B_uc010xim.1_Missense_Mutation_p.S1012F|KDM4B_uc002mbr.3_Missense_Mutation_p.S736F	p.S978F	NM_015015	NP_055830	O94953	KDM4B_HUMAN			21	3159	+			978			Tudor 2.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2933C>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	9.122	1.009226	0.19277	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.47177	0.85;0.85	4.53	3.45	0.39498	Tudor domain (1);	0.459239	0.23142	N	0.051445	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;B	0.32467	0.372;0.128	B;B	0.24269	0.052;0.021	T	0.27365	-1.0076	10	0.66056	D	0.02	-10.4725	9.5946	0.39567	0.0:0.7759:0.143:0.0811	.	1012;978	F5GX28;O94953	.;KDM4B_HUMAN	F	978;1012	ENSP00000159111:S978F;ENSP00000440495:S1012F	ENSP00000159111:S978F	S	+	2	0	KDM4B	5095825	0.007000	0.16637	0.320000	0.25306	0.361000	0.29550	2.325000	0.43840	0.843000	0.35070	0.491000	0.48974	TCC		PASS	0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		8	24	8	24	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5772893	5772893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:5772893C>T	ENST00000381624.3	+	20	1919	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	620					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.Q620*(1)									CCTGACGGCCCAGTCGGCCAT	0.552																																						uc002mda.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1858-1860)CAG>TAG		transmembrane protein 146 precursor							60.0	66.0	64.0					19																	5772893		2026	4176	6202	SO:0001587	stop_gained	257062					integral to membrane		g.chr19:5772893C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1858C>T	19.37:g.5772893C>T	ENSP00000371037:p.Gln620*						p.Q620*	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			20	1919	+			620			Extracellular (Potential).		Q6ZRP1	Nonsense_Mutation	SNP	ENST00000381624.3	37	c.1858C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325729	0.41197	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	.	.	.	3.22	-6.44	0.01920	.	20.643700	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.96	8.7931	0.34863	0.481:0.3939:0.1251:0.0	.	.	.	.	X	620;289	.	ENSP00000371026:Q289X	Q	+	1	0	TMEM146	5723893	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.058000	0.01394	-3.605000	0.00133	-1.218000	0.01608	CAG		PASS	0.552	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		9	23	9	23	---	---	---	---
RANBP3	8498	broad.mit.edu	37	19	5923310	5923310	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:5923310G>A	ENST00000340578.6	-	13	1161	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	RANBP3_ENST00000034275.8_Silent_p.S300S|RANBP3_ENST00000541471.1_Silent_p.S240S|RANBP3_ENST00000439268.2_Silent_p.S363S|RANBP3_ENST00000591092.1_Silent_p.S295S	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	368					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)	p.S368S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACTCAGCCAGGGACTCTGAAA	0.537																																						uc002mdw.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1102-1104)TCC>TCT		RAN binding protein 3 isoform RANBP3-d							69.0	74.0	73.0					19																	5923310		1977	4152	6129	SO:0001819	synonymous_variant	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923310G>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1104C>T	19.37:g.5923310G>A						RANBP3_uc002mdv.2_Silent_p.S87S|RANBP3_uc002mdx.2_Silent_p.S363S|RANBP3_uc002mdy.2_Silent_p.S300S|RANBP3_uc002mdz.2_Silent_p.S295S|RANBP3_uc010duq.2_Silent_p.S273S|RANBP3_uc002mea.2_Silent_p.S235S|RANBP3_uc010xix.1_Silent_p.S240S	p.S368S	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN			13	1331	-			368					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.1104C>T	CCDS42478.1																																																																																				PASS	0.537	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		5	9	5	9	---	---	---	---
SLC25A23	79085	broad.mit.edu	37	19	6454034	6454034	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:6454034G>A	ENST00000301454.4	-	7	967	c.861C>T	c.(859-861)tcC>tcT	p.S287S	SLC25A23_ENST00000334510.5_Silent_p.S287S|SLC25A23_ENST00000414491.2_Silent_p.S104S	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	287					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.S287S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CACCAGCCAGGGAGCCAGCCA	0.642																																						uc002mex.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(859-861)TCC>TCT		solute carrier family 25, member 23							44.0	43.0	43.0					19																	6454034		2203	4300	6503	SO:0001819	synonymous_variant	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454034G>A	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.861C>T	19.37:g.6454034G>A						SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Silent_p.S104S	p.S287S	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN			7	1003	-			287			Helical; Name=3; (Potential).|Solcar 2.		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	c.861C>T	CCDS32882.1																																																																																				PASS	0.642	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		6	5	6	5	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6495841	6495842	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:6495841_6495842CC>TT	ENST00000264071.2	-	4	1039_1040	c.668_669GG>AA	c.(667-669)gGG>gAA	p.G223E	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.G223E			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	223					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G223E(2)|p.G223G(1)									GGTTGAGGTCCCCGTAGGTGGG	0.629																																						uc002mfg.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)	2						c.(667-669)GGG>GGA|c.(667-669)GGG>GAG		tubulin, beta 4																																				SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495841C>T|g.chr19:6495842C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.668_669delinsTT	19.37:g.6495841_6495842delinsTT	ENSP00000264071:p.Gly223Glu					TUBB4_uc002mff.1_Silent_p.G151G|MIR220B_hsa-mir-220b|MI0005529_5'Flank|TUBB4_uc002mff.1_Missense_Mutation_p.G151E|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.G223G|p.G223E	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	776|775	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	223					B3KQP4|Q969E5	Silent|Missense_Mutation	SNP	ENST00000264071.2	37	c.669G>A|c.668G>A	CCDS12168.1																																																																																				PASS	0.629	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		19|20	51|52	19	51	---	---	---	---
C3	718	broad.mit.edu	37	19	6697786	6697786	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:6697786G>A	ENST00000245907.6	-	20	2552	c.2460C>T	c.(2458-2460)ccC>ccT	p.P820P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	820					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.P820P(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGACCTCGAAGGGGTCTGCCA	0.562																																						uc002mfm.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(2458-2460)CCC>CCT		complement component 3 precursor							38.0	34.0	35.0					19																	6697786		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697786G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2460C>T	19.37:g.6697786G>A							p.P820P	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	20	2522	-			820					A7E236	Silent	SNP	ENST00000245907.6	37	c.2460C>T	CCDS32883.1																																																																																				PASS	0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	10	7	10	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6760858	6760858	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:6760858C>T	ENST00000245908.6	-	3	479	c.210G>A	c.(208-210)cgG>cgA	p.R70R	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	70	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R70R(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTCGGCCTGGCCGGGGACGCA	0.647																																						uc002mft.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(208-210)CGG>CGA		SH2 domain containing 3A							52.0	52.0	52.0					19																	6760858		2203	4300	6503	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760858C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.210G>A	19.37:g.6760858C>T						SH2D3A_uc010xjg.1_Intron	p.R70R	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			3	404	-			70			SH2.		A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.210G>A	CCDS12173.1																																																																																				PASS	0.647	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		11	26	11	26	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7267435	7267435	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7267435C>T	ENST00000302850.5	-	2	715	c.573G>A	c.(571-573)aaG>aaA	p.K191K	INSR_ENST00000341500.5_Silent_p.K191K	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	191	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.K191K(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGGTCTTGCCCTTCGCGGTAC	0.542																																						uc002mgd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(571-573)AAG>AAA		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						138.0	102.0	114.0					19																	7267435		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267435C>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.573G>A	19.37:g.7267435C>T						INSR_uc002mge.1_Silent_p.K191K|INSR_uc002mgf.2_Silent_p.K191K	p.K191K	NM_000208	NP_000199	P06213	INSR_HUMAN			2	682	-			191			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.573G>A	CCDS12176.1																																																																																				PASS	0.542	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			16	21	16	21	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7267448	7267449	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7267448_7267449GG>AA	ENST00000302850.5	-	2	701_702	c.559_560CC>TT	c.(559-561)CCg>TTg	p.P187L	INSR_ENST00000341500.5_Missense_Mutation_p.P187L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.P187L(4)|p.P187S(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGCGGTACCCGGACAGATGTCT	0.535																																						uc002mgd.1																			6	Substitution - Missense(6)		lung(6)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(559-561)CCG>CTG|c.(559-561)CCG>TCG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267448G>A|g.chr19:7267449G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.559_560delinsAA	19.37:g.7267448_7267449delinsAA	ENSP00000303830:p.Pro187Leu					INSR_uc002mge.1_Missense_Mutation_p.P187L|INSR_uc002mgf.2_Missense_Mutation_p.P187L|INSR_uc002mge.1_Missense_Mutation_p.P187S|INSR_uc002mgf.2_Missense_Mutation_p.P187S	p.P187L|p.P187S	NM_000208	NP_000199	P06213	INSR_HUMAN			2	669|668	-			187			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.560C>T|c.559C>T	CCDS12176.1																																																																																				PASS	0.535	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			5	34|32	5	32	---	---	---	---
C19orf45	374877	broad.mit.edu	37	19	7573114	7573114	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7573114C>T	ENST00000361664.2	+	9	1457	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	CTD-2207O23.12_ENST00000599312.1_Intron	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	439								p.P425L(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CACATGGAGCCCCCTCTGGGT	0.592																																						uc002mgm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)CCC>CTC		hypothetical protein LOC374877							48.0	48.0	48.0					19																	7573114		2203	4300	6503	SO:0001583	missense	374877							g.chr19:7573114C>T	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.1316C>T	19.37:g.7573114C>T	ENSP00000355241:p.Pro439Leu						p.P439L	NM_198534	NP_940936	Q8NA69	CS045_HUMAN			9	1457	+			439					Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	c.1316C>T	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046759	0.07407	.	.	ENSG00000198723	ENST00000361664	T	0.14893	2.47	4.05	1.85	0.25348	.	0.172522	0.38381	N	0.001703	T	0.17152	0.0412	L	0.41710	1.295	0.41193	D	0.986319	D	0.59357	0.985	P	0.54026	0.74	T	0.19224	-1.0312	10	0.17369	T	0.5	-13.5746	4.8165	0.13369	0.2116:0.6756:0.0:0.1128	.	439	Q8NA69	CS045_HUMAN	L	439	ENSP00000355241:P439L	ENSP00000355241:P439L	P	+	2	0	C19orf45	7479114	1.000000	0.71417	0.920000	0.36463	0.401000	0.30781	1.560000	0.36331	0.463000	0.27118	0.462000	0.41574	CCC		PASS	0.592	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		5	15	5	15	---	---	---	---
TRAPPC5	126003	broad.mit.edu	37	19	7747619	7747619	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7747619C>T	ENST00000317378.5	+	2	667	c.480C>T	c.(478-480)gtC>gtT	p.V160V	TRAPPC5_ENST00000596148.1_Silent_p.V160V|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000595985.1_Silent_p.V93V|TRAPPC5_ENST00000426877.2_Silent_p.V160V	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	160					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)		p.V160V(1)		NS(1)|lung(2)	3						CTGCCAAGGTCACGGCGCACT	0.652																																						uc002mhi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)GTC>GTT		trafficking protein particle complex 5							25.0	30.0	28.0					19																	7747619		2181	4264	6445	SO:0001819	synonymous_variant	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747619C>T	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.480C>T	19.37:g.7747619C>T						TRAPPC5_uc002mhj.1_Silent_p.V160V|TRAPPC5_uc002mhk.1_Silent_p.V160V	p.V160V	NM_001042462	NP_001035927	Q8IUR0	TPPC5_HUMAN			2	550	+			160					A8K7I6	Silent	SNP	ENST00000317378.5	37	c.480C>T	CCDS42490.1																																																																																				PASS	0.652	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		4	4	4	4	---	---	---	---
CLEC4M	10332	broad.mit.edu	37	19	7831059	7831059	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7831059C>T	ENST00000327325.5	+	4	868	c.750C>T	c.(748-750)atC>atT	p.I250I	CLEC4M_ENST00000394122.2_Silent_p.I238I|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000248228.4_Silent_p.I228I|CLEC4M_ENST00000596363.1_Silent_p.I222I|CLEC4M_ENST00000357361.2_Silent_p.I250I|CLEC4M_ENST00000334806.5_Silent_p.I199I|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	250	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.I250I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAAATCTATCAAGAAC	0.507																																						uc002mih.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	pancreas(1)	1						c.(679-681)ATC>ATT		C-type lectin domain family 4, member M isoform							145.0	148.0	147.0					19																	7831059		2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831059C>T	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.750C>T	19.37:g.7831059C>T						CLEC4M_uc010xjv.1_Silent_p.I222I|CLEC4M_uc002mhy.2_Silent_p.I194I|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.I204I|CLEC4M_uc010dvs.2_Silent_p.I226I|CLEC4M_uc010xjx.1_Silent_p.I199I|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Silent_p.I222I|CLEC4M_uc002mia.2_Intron	p.I227I	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			5	799	+			250			Extracellular (Probable).|7.|7 X approximate tandem repeats.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.681C>T	CCDS12187.1																																																																																				PASS	0.507	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		17	38	17	38	---	---	---	---
LRRC8E	80131	broad.mit.edu	37	19	7963609	7963609	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:7963609C>T	ENST00000306708.6	+	3	303	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	68					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P68S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						ATCAGAGGCCCCGTGCCAGCA	0.522																																						uc002mir.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(202-204)CCG>TCG		leucine rich repeat containing 8 family, member							115.0	123.0	120.0					19																	7963609		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963609C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.202C>T	19.37:g.7963609C>T	ENSP00000306524:p.Pro68Ser						p.P68S	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	303	+			68					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.202C>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	C	3.707	-0.060313	0.07317	.	.	ENSG00000171017	ENST00000306708	T	0.25085	1.82	5.19	4.15	0.48705	.	0.284254	0.32655	N	0.005801	T	0.14787	0.0357	N	0.19112	0.55	0.40671	D	0.982216	B	0.09022	0.002	B	0.08055	0.003	T	0.07309	-1.0779	10	0.10636	T	0.68	.	11.7881	0.52053	0.0:0.9154:0.0:0.0846	.	68	Q6NSJ5	LRC8E_HUMAN	S	68	ENSP00000306524:P68S	ENSP00000306524:P68S	P	+	1	0	LRRC8E	7869609	0.006000	0.16342	0.869000	0.34112	0.268000	0.26511	1.508000	0.35769	1.432000	0.47375	0.655000	0.94253	CCG		PASS	0.522	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		30	96	30	96	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8151968	8151968	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8151968G>A	ENST00000600128.1	-	54	7161	c.6747C>T	c.(6745-6747)ggC>ggT	p.G2249G	FBN3_ENST00000270509.2_Silent_p.G2249G|FBN3_ENST00000601739.1_Silent_p.G2249G			Q75N90	FBN3_HUMAN	fibrillin 3	2249	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2249G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TACCTGTGCAGCCCTCCCCAG	0.632																																						uc002mjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6745-6747)GGC>GGT		fibrillin 3 precursor							46.0	45.0	45.0					19																	8151968		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8151968G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6747C>T	19.37:g.8151968G>A						FBN3_uc002mje.2_Silent_p.G88G	p.G2249G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			53	6768	-			2249			EGF-like 36; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.6747C>T	CCDS12196.1																																																																																				PASS	0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	25	7	25	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8201112	8201112	+	Missense_Mutation	SNP	G	G	T	rs200735232		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8201112G>T	ENST00000600128.1	-	12	1841	c.1427C>A	c.(1426-1428)cCg>cAg	p.P476Q	FBN3_ENST00000270509.2_Missense_Mutation_p.P476Q|FBN3_ENST00000601739.1_Missense_Mutation_p.P476Q			Q75N90	FBN3_HUMAN	fibrillin 3	476	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P476Q(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGAAGCCCGGGTAGCACCG	0.647																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(1426-1428)CCG>CAG		fibrillin 3 precursor							69.0	63.0	65.0					19																	8201112		2203	4299	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8201112G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1427C>A	19.37:g.8201112G>T	ENSP00000470498:p.Pro476Gln						p.P476Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			11	1448	-			476			EGF-like 4; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1427C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	1.130	-0.652702	0.03480	.	.	ENSG00000142449	ENST00000270509	D	0.91792	-2.91	4.2	2.06	0.26882	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.358632	0.27306	N	0.019972	D	0.83903	0.5355	L	0.31664	0.95	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.69168	-0.5216	10	0.29301	T	0.29	.	6.5998	0.22695	0.0:0.0854:0.1632:0.7514	.	476	Q75N90	FBN3_HUMAN	Q	476	ENSP00000270509:P476Q	ENSP00000270509:P476Q	P	-	2	0	FBN3	8107112	0.045000	0.20229	0.137000	0.22149	0.376000	0.30014	1.717000	0.37991	0.075000	0.16796	-0.397000	0.06425	CCG		PASS	0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	33	4	33	---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8564087	8564087	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8564087G>A	ENST00000423345.4	-	2	1125	c.605C>T	c.(604-606)cCg>cTg	p.P202L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P202L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	250	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.P202L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGGGACCTCGGGGTAGCCTC	0.647																																						uc002mkd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CCG>CTG		PML-RARA regulated adaptor molecule 1							27.0	29.0	28.0					19																	8564087		1966	4142	6108	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564087G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.605C>T	19.37:g.8564087G>A	ENSP00000408342:p.Pro202Leu					PRAM1_uc002mkc.2_Missense_Mutation_p.P202L	p.P202L	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	625	-			250			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.605C>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	0.458	-0.890314	0.02491	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.13538	2.58;2.58	3.76	-7.53	0.01336	.	2.332830	0.02017	N	0.047495	T	0.08891	0.0220	L	0.32530	0.975	0.09310	N	1	B;B	0.25772	0.108;0.134	B;B	0.19148	0.017;0.024	T	0.06954	-1.0798	10	0.32370	T	0.25	.	3.6933	0.08354	0.1142:0.0827:0.3943:0.4088	.	202;250	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	L	202	ENSP00000255612:P202L;ENSP00000408342:P202L	ENSP00000255612:P202L	P	-	2	0	PRAM1	8470087	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.158000	0.00283	-4.890000	0.00028	-0.373000	0.07131	CCG		PASS	0.647	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		5	12	5	12	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595157	8595157	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8595157C>T	ENST00000338257.8	-	21	2518	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	751	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E751K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGACGCAGCTCGGGCCGCTCC	0.632																																						uc002mkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2251-2253)GAG>AAG		myosin IF							130.0	141.0	138.0					19																	8595157		2100	4199	6299	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595157C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2251G>A	19.37:g.8595157C>T	ENSP00000344871:p.Glu751Lys						p.E751K	NM_012335	NP_036467	O00160	MYO1F_HUMAN			21	2365	-			751					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2251G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785768	0.90282	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.34072	1.38	5.45	5.45	0.79879	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.58510	1.815	0.80722	D	1	D	0.57899	0.981	P	0.51055	0.657	T	0.28902	-1.0029	10	0.07030	T	0.85	.	18.3254	0.90252	0.0:1.0:0.0:0.0	.	751	O00160	MYO1F_HUMAN	K	796;751	ENSP00000344871:E751K	ENSP00000304899:E796K	E	-	1	0	MYO1F	8501157	1.000000	0.71417	0.931000	0.37212	0.870000	0.49936	7.772000	0.85439	2.578000	0.87016	0.456000	0.33151	GAG		PASS	0.632	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			17	71	17	71	---	---	---	---
ACTL9	284382	broad.mit.edu	37	19	8808975	8808975	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8808975G>A	ENST00000324436.3	-	1	197	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	26						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P26L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CACCACGTTGGGACTGGGGTT	0.667																																						uc002mkl.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(76-78)CCC>CTC		actin-like 9							44.0	56.0	52.0					19																	8808975		2198	4290	6488	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808975G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.77C>T	19.37:g.8808975G>A	ENSP00000316674:p.Pro26Leu						p.P26L	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	198	-			26					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.77C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399707	0.25291	.	.	ENSG00000181786	ENST00000324436	D	0.94184	-3.37	2.91	1.86	0.25419	.	1.976990	0.03447	U	0.210072	D	0.86310	0.5902	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.76575	-0.2909	10	0.87932	D	0	.	8.0374	0.30502	0.0:0.2518:0.7482:0.0	.	26	Q8TC94	ACTL9_HUMAN	L	26	ENSP00000316674:P26L	ENSP00000316674:P26L	P	-	2	0	ACTL9	8669975	0.030000	0.19436	0.001000	0.08648	0.001000	0.01503	1.590000	0.36654	0.815000	0.34398	-0.361000	0.07541	CCC		PASS	0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		8	33	8	33	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8969305	8969305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8969305G>A	ENST00000397910.4	-	79	43242	c.43039C>T	c.(43039-43041)Cag>Tag	p.Q14347*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.Q988*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14443	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q14347*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTCCTCTGGTAATTGGTG	0.507																																						uc002mkp.2																			1	Substitution - Nonsense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43039-43041)CAG>TAG		mucin 16							215.0	206.0	209.0					19																	8969305		1995	4157	6152	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8969305G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43039C>T	19.37:g.8969305G>A	ENSP00000381008:p.Gln14347*					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Nonsense_Mutation_p.Q1147*|MUC16_uc010xki.1_RNA	p.Q14347*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			79	43243	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.43039C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114376	0.97296	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	.	.	.	4.3	4.3	0.51218	.	0.837651	0.09784	N	0.756271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.4545	0.55695	0.0:0.0:1.0:0.0	.	.	.	.	X	14347;988	.	ENSP00000370338:Q988X	Q	-	1	0	MUC16	8830305	0.152000	0.22762	0.017000	0.16124	0.016000	0.09150	2.471000	0.45127	2.393000	0.81446	0.655000	0.94253	CAG		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	63	17	63	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8997448	8997448	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:8997448C>T	ENST00000397910.4	-	59	41177	c.40974G>A	c.(40972-40974)agG>agA	p.R13658R	MUC16_ENST00000380951.5_Silent_p.R299R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13660	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R343R(1)|p.R13658R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGAACTTCCTGGAGCCAG	0.572																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40972-40974)AGG>AGA		mucin 16							176.0	141.0	152.0					19																	8997448		1977	4150	6127	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997448C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40974G>A	19.37:g.8997448C>T						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.R475R|MUC16_uc010xki.1_RNA	p.R13658R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			59	41178	-			13660	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).|SEA 11.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40974G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.500	-0.315426	0.05422	.	.	ENSG00000181143	ENST00000542240	.	.	.	2.86	0.634	0.17718	.	.	.	.	.	T	0.30135	0.0755	.	.	.	.	.	.	.	.	.	.	.	.	T	0.34625	-0.9821	3	.	.	.	7.3526	4.0787	0.09916	0.0:0.5824:0.2712:0.1463	.	.	.	.	E	498	.	.	G	-	2	0	MUC16	8858448	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.513000	0.00957	0.253000	0.21552	-0.266000	0.10368	GGA		PASS	0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	60	32	60	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9002624	9002624	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9002624G>A	ENST00000397910.4	-	51	40395	c.40192C>T	c.(40192-40194)Cgt>Tgt	p.R13398C	MUC16_ENST00000380951.5_Missense_Mutation_p.R39C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13400	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R13398C(1)|p.R83C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCAGGACGATGGGTGCAG	0.572																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40192-40194)CGT>TGT		mucin 16							77.0	72.0	74.0					19																	9002624		1996	4174	6170	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9002624G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40192C>T	19.37:g.9002624G>A	ENSP00000381008:p.Arg13398Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R215C|MUC16_uc010xki.1_RNA	p.R13398C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			51	40396	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40192C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.085447	0.36758	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35421	1.31;1.31	2.75	1.7	0.24286	SEA (1);	.	.	.	.	T	0.47192	0.1432	L	0.50333	1.59	.	.	.	D;D	0.89917	0.995;1.0	P;D	0.79108	0.684;0.992	T	0.54622	-0.8266	8	0.62326	D	0.03	-0.0594	5.25	0.15517	0.1648:0.0:0.8352:0.0	.	21043;13398	Q8WXI7;B5ME49	MUC16_HUMAN;.	C	13398;39	ENSP00000381008:R13398C;ENSP00000370338:R39C	ENSP00000370338:R39C	R	-	1	0	MUC16	8863624	0.025000	0.19082	0.005000	0.12908	0.000000	0.00434	2.332000	0.43903	0.723000	0.32274	0.313000	0.20887	CGT		PASS	0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	32	7	32	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9003653	9003653	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9003653A>G	ENST00000397910.4	-	49	40190	c.39987T>C	c.(39985-39987)ttT>ttC	p.F13329F	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13331	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F14F(1)|p.F13329F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGATGGTAAAATTGAGGG	0.488																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39985-39987)TTT>TTC		mucin 16							223.0	183.0	196.0					19																	9003653		2015	4183	6198	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003653A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39987T>C	19.37:g.9003653A>G						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F146F|MUC16_uc010xki.1_Intron	p.F13329F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			49	40191	-			13331			Extracellular (Potential).|SEA 9.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39987T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.264	-0.997383	0.02145	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.07	-2.37	0.06643	.	.	.	.	.	T	0.38506	0.1043	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45512	-0.9256	3	.	.	.	-14.9843	8.2214	0.31543	0.5554:0.0:0.4446:0.0	.	.	.	.	S	169	.	.	L	-	2	0	MUC16	8864653	0.914000	0.31030	0.362000	0.25862	0.000000	0.00434	-0.517000	0.06275	-0.982000	0.03515	-3.053000	0.00069	TTA		PASS	0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	67	37	67	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9013861	9013861	+	Silent	SNP	G	G	A	rs555217918		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9013861G>A	ENST00000397910.4	-	33	38732	c.38529C>T	c.(38527-38529)tcC>tcT	p.S12843S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12845				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12843S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGGGGAGGGAGGATGGAG	0.478													-|||	1	0.000199681	0.0	0.0	5008	,	,		21979	0.001		0.0	False		,,,				2504	0.0					uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38527-38529)TCC>TCT		mucin 16							71.0	64.0	67.0					19																	9013861		1929	4127	6056	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9013861G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38529C>T	19.37:g.9013861G>A						MUC16_uc010xki.1_5'Flank	p.S12843S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			33	38733	-			12845	Missing (in Ref. 3; AAK74120).		Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38529C>T	CCDS54212.1																																																																																				PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	22	5	22	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9019293	9019293	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9019293A>T	ENST00000397910.4	-	23	37797	c.37594T>A	c.(37594-37596)Tcc>Acc	p.S12532T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12534					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12532T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGGAGGGAGAATGGAGTC	0.458																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37594-37596)TCC>ACC		mucin 16							79.0	74.0	76.0					19																	9019293		1889	4116	6005	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9019293A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37594T>A	19.37:g.9019293A>T	ENSP00000381008:p.Ser12532Thr						p.S12532T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			23	37798	-			12534			Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37594T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.809	-0.247478	0.05867	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	1.42	-2.23	0.06930	.	.	.	.	.	T	0.03827	0.0108	M	0.76574	2.34	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.37244	-0.9714	8	0.87932	D	0	.	2.3782	0.04347	0.4086:0.2926:0.2988:0.0	.	12532	B5ME49	.	T	12532	ENSP00000381008:S12532T	ENSP00000381008:S12532T	S	-	1	0	MUC16	8880293	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.052000	0.14163	-0.694000	0.05113	-0.842000	0.03052	TCC		PASS	0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	28	6	28	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9033707	9033707	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9033707G>A	ENST00000397910.4	-	9	36433	c.36230C>T	c.(36229-36231)aCc>aTc	p.T12077I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12079	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T12077I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTTGAGGGTGAATGGCAC	0.532																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36229-36231)ACC>ATC		mucin 16							130.0	128.0	128.0					19																	9033707		2110	4236	6346	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033707G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36230C>T	19.37:g.9033707G>A	ENSP00000381008:p.Thr12077Ile						p.T12077I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			9	36434	-			12079			SEA 1.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36230C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914839	0.52546	.	.	ENSG00000181143	ENST00000397910	T	0.51071	0.72	4.26	4.26	0.50523	.	.	.	.	.	T	0.63379	0.2506	L	0.58428	1.81	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.72811	-0.4180	8	0.87932	D	0	.	12.3687	0.55242	0.0:0.0:1.0:0.0	.	12077	B5ME49	.	I	12077	ENSP00000381008:T12077I	ENSP00000381008:T12077I	T	-	2	0	MUC16	8894707	0.925000	0.31364	0.998000	0.56505	0.865000	0.49528	2.519000	0.45546	2.382000	0.81193	0.650000	0.86243	ACC		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	52	22	52	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057848	9057848	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9057848C>G	ENST00000397910.4	-	3	29801	c.29598G>C	c.(29596-29598)agG>agC	p.R9866S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9868	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R5499S(1)|p.R9866S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTCGGAATCCTCCTAGTCT	0.468																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29596-29598)AGG>AGC		mucin 16							127.0	120.0	122.0					19																	9057848		1981	4178	6159	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057848C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29598G>C	19.37:g.9057848C>G	ENSP00000381008:p.Arg9866Ser						p.R9866S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29802	-			9868			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29598G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.021	0.001355	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.42	-1.18	0.09617	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	.	.	.	B	0.26845	0.161	B	0.22386	0.039	T	0.21211	-1.0252	8	0.87932	D	0	.	2.8112	0.05442	0.0:0.4197:0.2482:0.3321	.	9866	B5ME49	.	S	9866	ENSP00000381008:R9866S	ENSP00000381008:R9866S	R	-	3	2	MUC16	8918848	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.430000	0.01024	-0.182000	0.10602	-1.109000	0.02080	AGG		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	73	18	73	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060341	9060341	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9060341G>A	ENST00000397910.4	-	3	27308	c.27105C>T	c.(27103-27105)tcC>tcT	p.S9035S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9037	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S9035S(1)|p.S4668S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTGTCATGGAGTCCTCAA	0.532																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27103-27105)TCC>TCT		mucin 16							152.0	143.0	146.0					19																	9060341		2074	4212	6286	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060341G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27105C>T	19.37:g.9060341G>A							p.S9035S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27309	-			9037			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.27105C>T	CCDS54212.1																																																																																				PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	57	13	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9061307	9061307	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9061307G>A	ENST00000397910.4	-	3	26342	c.26139C>T	c.(26137-26139)atC>atT	p.I8713I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8715	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I8713I(2)|p.I4346I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGGTACTGATCTCCCTTA	0.493																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26137-26139)ATC>ATT		mucin 16							100.0	94.0	96.0					19																	9061307		1959	4142	6101	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061307G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26139C>T	19.37:g.9061307G>A							p.I8713I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26343	-			8715			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.26139C>T	CCDS54212.1																																																																																				PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	34	14	34	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9062148	9062148	+	Missense_Mutation	SNP	C	C	T	rs199710816	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9062148C>T	ENST00000397910.4	-	3	25501	c.25298G>A	c.(25297-25299)gGa>gAa	p.G8433E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8435	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G8433E(2)|p.G4066E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGTGCTTCCCTCTGTGGC	0.522																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25297-25299)GGA>GAA		mucin 16							80.0	78.0	79.0					19																	9062148		2007	4187	6194	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062148C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25298G>A	19.37:g.9062148C>T	ENSP00000381008:p.Gly8433Glu						p.G8433E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25502	-			8435			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25298G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.854	0.158831	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	2.89	-2.76	0.05896	.	.	.	.	.	T	0.01730	0.0055	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.43048	-0.9415	8	0.87932	D	0	.	6.0693	0.19881	0.0:0.1579:0.254:0.5881	.	8433	B5ME49	.	E	8433	ENSP00000381008:G8433E	ENSP00000381008:G8433E	G	-	2	0	MUC16	8923148	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.653000	0.00402	-0.454000	0.07066	-0.742000	0.03525	GGA		PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	39	24	39	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063550	9063550	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9063550C>T	ENST00000397910.4	-	3	24099	c.23896G>A	c.(23896-23898)Gaa>Aaa	p.E7966K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7968	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E7966K(2)|p.E3599K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTTTTTCCAGAAGGGGA	0.468																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23896-23898)GAA>AAA		mucin 16							93.0	90.0	91.0					19																	9063550		1958	4140	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063550C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23896G>A	19.37:g.9063550C>T	ENSP00000381008:p.Glu7966Lys						p.E7966K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24100	-			7968			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23896G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.360	0.624603	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.47	-0.27	0.12926	.	.	.	.	.	T	0.24736	0.0600	L	0.55481	1.735	.	.	.	B	0.16603	0.018	B	0.06405	0.002	T	0.26950	-1.0088	8	0.87932	D	0	.	4.45	0.11616	0.0:0.5317:0.0:0.4683	.	7966	B5ME49	.	K	7966	ENSP00000381008:E7966K	ENSP00000381008:E7966K	E	-	1	0	MUC16	8924550	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.772000	0.01787	0.008000	0.14787	0.404000	0.27445	GAA		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	29	11	29	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063715	9063715	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9063715G>A	ENST00000397910.4	-	3	23934	c.23731C>T	c.(23731-23733)Cct>Tct	p.P7911S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7913	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P7911S(2)|p.P3544S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCTAAAGGACTTGTATGG	0.453																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23731-23733)CCT>TCT		mucin 16							238.0	220.0	226.0					19																	9063715		2036	4197	6233	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063715G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23731C>T	19.37:g.9063715G>A	ENSP00000381008:p.Pro7911Ser						p.P7911S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	23935	-			7913			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23731C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.152	0.213677	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	2.2	-4.41	0.03590	.	.	.	.	.	T	0.02418	0.0074	N	0.21448	0.665	.	.	.	B	0.16603	0.018	B	0.11329	0.006	T	0.43956	-0.9359	8	0.87932	D	0	.	3.7767	0.08663	0.5469:0.0:0.2702:0.1829	.	7911	B5ME49	.	S	7911	ENSP00000381008:P7911S	ENSP00000381008:P7911S	P	-	1	0	MUC16	8924715	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-2.993000	0.00656	-1.331000	0.02252	0.187000	0.17357	CCT		PASS	0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	71	23	71	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072915	9072915	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9072915G>A	ENST00000397910.4	-	3	14734	c.14531C>T	c.(14530-14532)tCa>tTa	p.S4844L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4846	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S4844L(2)|p.S477L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGAATGTGATTCAAATGC	0.453																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14530-14532)TCA>TTA		mucin 16							177.0	165.0	169.0					19																	9072915		2060	4186	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072915G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14531C>T	19.37:g.9072915G>A	ENSP00000381008:p.Ser4844Leu						p.S4844L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14735	-			4846			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.14531C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.098	0.016269	0.07959	.	.	ENSG00000181143	ENST00000397910	T	0.27720	1.65	2.09	-0.291	0.12843	.	.	.	.	.	T	0.12646	0.0307	N	0.04636	-0.2	.	.	.	B	0.11235	0.004	B	0.17098	0.017	T	0.20672	-1.0268	8	0.87932	D	0	.	3.354	0.07163	0.173:0.2723:0.5547:0.0	.	4844	B5ME49	.	L	4844	ENSP00000381008:S4844L	ENSP00000381008:S4844L	S	-	2	0	MUC16	8933915	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.047000	0.11963	0.021000	0.15133	-0.676000	0.03789	TCA		PASS	0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	48	13	48	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T	rs201713021	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R4603Q(3)|p.R236Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTCTTTTCGTCCAGCAGT	0.502													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20960	0.0		0.0	False		,,,				2504	0.0					uc002mkp.2																			5	Substitution - Missense(5)	p.R4603Q(1)|p.R236Q(1)	lung(3)|ovary(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13807-13809)CGA>CAA		mucin 16		C	GLN/ARG	19,3967		1,17,1975	93.0	88.0	90.0		13808	-0.8	0.0	19		90	1,8343		0,1,4171	yes	missense	MUC16	NM_024690.2	43	1,18,6146	TT,TC,CC		0.012,0.4767,0.1622	benign	4603/14508	9073638	20,12310	1993	4172	6165	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073638C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13808G>A	19.37:g.9073638C>T	ENSP00000381008:p.Arg4603Gln						p.R4603Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14012	-			4605			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13808G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.656	-0.280750	0.05642	0.004767	1.2E-4	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.63	-0.829	0.10796	.	.	.	.	.	T	0.01222	0.0040	N	0.02011	-0.69	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.44862	-0.9300	8	0.87932	D	0	.	3.5428	0.07818	0.3197:0.4572:0.0:0.2231	.	4603	B5ME49	.	Q	4603	ENSP00000381008:R4603Q	ENSP00000381008:R4603Q	R	-	2	0	MUC16	8934638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.445000	0.02401	-0.818000	0.04329	-1.786000	0.00637	CGA		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	29	8	29	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9073897	9073897	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9073897C>T	ENST00000397910.4	-	3	13752	c.13549G>A	c.(13549-13551)Gag>Aag	p.E4517K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4519	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4517K(2)|p.E150K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTATCTCATTTGATGGA	0.433																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13549-13551)GAG>AAG		mucin 16							113.0	108.0	109.0					19																	9073897		1937	4150	6087	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073897C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13549G>A	19.37:g.9073897C>T	ENSP00000381008:p.Glu4517Lys						p.E4517K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13753	-			4519			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13549G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.774	0.327167	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	1.86	-0.626	0.11544	.	.	.	.	.	T	0.19087	0.0458	L	0.50333	1.59	.	.	.	P	0.36354	0.549	B	0.25291	0.059	T	0.21314	-1.0249	8	0.87932	D	0	.	2.1782	0.03867	0.3053:0.4949:0.0:0.1998	.	4517	B5ME49	.	K	4517	ENSP00000381008:E4517K	ENSP00000381008:E4517K	E	-	1	0	MUC16	8934897	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.020000	0.13466	-0.085000	0.12573	0.313000	0.20887	GAG		PASS	0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	28	12	28	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074626	9074626	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9074626G>A	ENST00000397910.4	-	3	13023	c.12820C>T	c.(12820-12822)Cca>Tca	p.P4274S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4276	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P4274S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAACCAATGGAGATGTGGCT	0.478																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12820-12822)CCA>TCA		mucin 16							133.0	130.0	131.0					19																	9074626		2021	4184	6205	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074626G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12820C>T	19.37:g.9074626G>A	ENSP00000381008:p.Pro4274Ser						p.P4274S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13024	-			4276			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12820C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.540640	0.27563	.	.	ENSG00000181143	ENST00000397910	T	0.62498	0.02	1.98	-1.8	0.07907	.	.	.	.	.	T	0.43787	0.1263	L	0.27053	0.805	.	.	.	B	0.14805	0.011	B	0.21546	0.035	T	0.40079	-0.9582	8	0.87932	D	0	.	4.3852	0.11312	0.1561:0.4624:0.3815:0.0	.	4274	B5ME49	.	S	4274	ENSP00000381008:P4274S	ENSP00000381008:P4274S	P	-	1	0	MUC16	8935626	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.175000	0.09825	-0.349000	0.08274	-0.676000	0.03789	CCA		PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	45	15	45	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9077289	9077289	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9077289G>A	ENST00000397910.4	-	3	10360	c.10157C>T	c.(10156-10158)tCc>tTc	p.S3386F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3387	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S3386F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATGTTTGGATTTATCTGT	0.468																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10156-10158)TCC>TTC		mucin 16							265.0	248.0	253.0					19																	9077289		1963	4143	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9077289G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10157C>T	19.37:g.9077289G>A	ENSP00000381008:p.Ser3386Phe						p.S3386F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10361	-			3387			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10157C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.151	-0.174260	0.06421	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.97	-0.389	0.12455	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.18968	0.032	B	0.08055	0.003	T	0.44907	-0.9297	8	0.87932	D	0	.	2.5227	0.04683	0.1823:0.0:0.5018:0.3159	.	3386	B5ME49	.	F	3386	ENSP00000381008:S3386F	ENSP00000381008:S3386F	S	-	2	0	MUC16	8938289	0.001000	0.12720	0.001000	0.08648	0.124000	0.20399	0.174000	0.16743	-0.038000	0.13624	0.205000	0.17691	TCC		PASS	0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	107	28	107	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091240	9091240	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9091240G>A	ENST00000397910.4	-	1	778	c.575C>T	c.(574-576)cCa>cTa	p.P192L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	192	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P192L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTTTCATTGGAGATGTGAT	0.463																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(574-576)CCA>CTA		mucin 16							121.0	114.0	116.0					19																	9091240		1993	4169	6162	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091240G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.575C>T	19.37:g.9091240G>A	ENSP00000381008:p.Pro192Leu						p.P192L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	779	-			192			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.575C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.626	-0.076571	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.49	0.39	0.16275	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	.	.	.	P	0.36354	0.549	B	0.28232	0.087	T	0.42515	-0.9447	8	0.87932	D	0	.	5.6348	0.17530	0.0:0.3469:0.6531:0.0	.	192	B5ME49	.	L	192	ENSP00000381008:P192L	ENSP00000381008:P192L	P	-	2	0	MUC16	8952240	0.000000	0.05858	0.001000	0.08648	0.281000	0.26958	0.388000	0.20735	0.182000	0.20032	-0.802000	0.03209	CCA		PASS	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	43	18	43	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091756	9091756	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9091756C>T	ENST00000397910.4	-	1	262	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	20	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G20E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCTGCTCCCTGTCATCAA	0.517																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(58-60)GGG>GAG		mucin 16							89.0	88.0	88.0					19																	9091756		2026	4172	6198	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091756C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.59G>A	19.37:g.9091756C>T	ENSP00000381008:p.Gly20Glu						p.G20E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	263	-			20			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.59G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.871	-0.460288	0.04508	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	1.35	-2.7	0.06004	.	.	.	.	.	T	0.01765	0.0056	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.11329	0.006	T	0.44528	-0.9322	8	0.87932	D	0	.	2.6906	0.05120	0.0:0.349:0.2582:0.3928	.	20	B5ME49	.	E	20	ENSP00000381008:G20E	ENSP00000381008:G20E	G	-	2	0	MUC16	8952756	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.501000	0.02281	-0.799000	0.04439	0.313000	0.20887	GGG		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	15	4	15	---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9204664	9204664	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9204664T>C	ENST00000429566.3	+	1	810	c.744T>C	c.(742-744)gtT>gtC	p.V248V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGTCTGTGGTTGCTCTCTTCT	0.567																																						uc010xkj.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(742-744)GTT>GTC		olfactory receptor, family 1, subfamily M,							164.0	148.0	154.0					19																	9204664		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204664T>C		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.744T>C	19.37:g.9204664T>C							p.V248V	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	744	+			248			Helical; Name=6; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.744T>C	CCDS32896.1																																																																																				PASS	0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			18	68	18	68	---	---	---	---
ZNF317	57693	broad.mit.edu	37	19	9271287	9271287	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9271287C>T	ENST00000247956.6	+	7	1271	c.966C>T	c.(964-966)atC>atT	p.I322I	ZNF317_ENST00000360385.3_Silent_p.I290I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	322					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.I322I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCACCTCATCGCACACAAGA	0.587																																						uc002mku.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(964-966)ATC>ATT		zinc finger protein 317							63.0	64.0	63.0					19																	9271287		2203	4300	6503	SO:0001819	synonymous_variant	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271287C>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.966C>T	19.37:g.9271287C>T						ZNF317_uc002mkv.2_Silent_p.I181I|ZNF317_uc002mkw.2_Silent_p.I290I|ZNF317_uc002mkx.2_Silent_p.I237I|ZNF317_uc002mky.2_Silent_p.I205I	p.I322I	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	1241	+			322			C2H2-type 4.		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	c.966C>T	CCDS12210.1																																																																																				PASS	0.587	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		12	26	12	26	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9452969	9452969	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:9452969C>T	ENST00000393883.2	+	6	1490	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000538743.1_Missense_Mutation_p.S201F|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.S345F|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S281F|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	281					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.S281F(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTGCTTTTTCCCCAGATCTT	0.333																																						uc002mlg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)TCC>TTC		zinc finger protein 559							85.0	91.0	89.0					19																	9452969		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452969C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.842C>T	19.37:g.9452969C>T	ENSP00000377461:p.Ser281Phe					ZNF559_uc002mlf.2_Missense_Mutation_p.S50F|ZNF559_uc010dwl.1_Missense_Mutation_p.S50F|ZNF559_uc010xkn.1_Missense_Mutation_p.S273F|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.S345F|ZNF559_uc010dwk.1_Missense_Mutation_p.S50F|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.S281F	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1489	+			281					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.842C>T	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	4.190	0.033828	0.08101	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.16196	2.36;2.36	1.77	1.77	0.24775	.	.	.	.	.	T	0.29620	0.0739	M	0.74467	2.265	0.09310	N	1	B;B;D	0.89917	0.087;0.084;1.0	B;B;P	0.61800	0.011;0.02;0.894	T	0.19063	-1.0317	9	0.12430	T	0.62	.	6.157	0.20344	0.0:0.677:0.3229:0.0	.	281;281;201	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	F	281;201;281	ENSP00000442832:S201F;ENSP00000377461:S281F	ENSP00000325393:S281F	S	+	2	0	ZNF559	9313969	0.000000	0.05858	0.022000	0.16811	0.013000	0.08279	-0.471000	0.06631	1.311000	0.45024	0.455000	0.32223	TCC		PASS	0.333	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		9	31	9	31	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10084444	10084444	+	Silent	SNP	G	G	A	rs542528927		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10084444G>A	ENST00000264828.3	-	49	3685	c.3600C>T	c.(3598-3600)gcC>gcT	p.A1200A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1200	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.A1200A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCACCCACGGCGCCTGGCT	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18644	0.0		0.0	False		,,,				2504	0.0					uc002mmq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3598-3600)GCC>GCT		collagen, type V, alpha 3 preproprotein							82.0	90.0	87.0					19																	10084444		2202	4300	6502	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10084444G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3600C>T	19.37:g.10084444G>A							p.A1200A	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		49	3686	-			1200			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.3600C>T	CCDS12222.1																																																																																				PASS	0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	41	19	41	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10088084	10088084	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10088084C>T	ENST00000264828.3	-	43	3276	c.3191G>A	c.(3190-3192)gGa>gAa	p.G1064E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1064	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1064E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCAGGGGGTCCCAGAGGCCC	0.657																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3190-3192)GGA>GAA		collagen, type V, alpha 3 preproprotein							65.0	80.0	75.0					19																	10088084		2200	4291	6491	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088084C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3191G>A	19.37:g.10088084C>T	ENSP00000264828:p.Gly1064Glu						p.G1064E	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		43	3277	-			1064			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3191G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371086	0.82573	.	.	ENSG00000080573	ENST00000264828	D	0.99619	-6.28	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.99778	0.9908	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97038	0.9755	10	0.87932	D	0	.	16.5459	0.84445	0.0:1.0:0.0:0.0	.	1064	P25940	CO5A3_HUMAN	E	1064	ENSP00000264828:G1064E	ENSP00000264828:G1064E	G	-	2	0	COL5A3	9949084	1.000000	0.71417	0.113000	0.21522	0.792000	0.44763	7.302000	0.78861	2.504000	0.84457	0.563000	0.77884	GGA		PASS	0.657	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		10	33	10	33	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10106767	10106767	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10106767C>T	ENST00000264828.3	-	15	1593	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	503	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G503E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCTCCTCTCCTTTCAGACC	0.577																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1507-1509)GGA>GAA		collagen, type V, alpha 3 preproprotein							202.0	183.0	189.0					19																	10106767		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10106767C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1508G>A	19.37:g.10106767C>T	ENSP00000264828:p.Gly503Glu						p.G503E	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		15	1594	-			503			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1508G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360530	0.61403	.	.	ENSG00000080573	ENST00000264828	D	0.99353	-5.77	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000001	D	0.99677	0.9879	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97462	1.0035	10	0.87932	D	0	.	15.0352	0.71741	0.0:1.0:0.0:0.0	.	503	P25940	CO5A3_HUMAN	E	503	ENSP00000264828:G503E	ENSP00000264828:G503E	G	-	2	0	COL5A3	9967767	0.999000	0.42202	0.998000	0.56505	0.065000	0.16274	4.420000	0.59841	2.640000	0.89533	0.655000	0.94253	GGA		PASS	0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		33	55	33	55	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10132325	10132325	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10132325G>A	ENST00000171214.1	+	6	1085	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	RDH8_ENST00000591589.1_Missense_Mutation_p.R299Q	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	279					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.R279Q(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGTATGTGCGAACGACCCAC	0.627																																						uc002mmr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(835-837)CGA>CAA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						113.0	107.0	109.0					19																	10132325		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.chr19:10132325G>A	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.836G>A	19.37:g.10132325G>A	ENSP00000171214:p.Arg279Gln						p.R279Q	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	1085	+			279					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.836G>A		.	.	.	.	.	.	.	.	.	.	G	5.455	0.269058	0.10349	.	.	ENSG00000080511	ENST00000171214	D	0.82711	-1.64	4.41	-0.857	0.10693	.	0.837741	0.10423	N	0.676500	T	0.73830	0.3637	L	0.54323	1.7	0.09310	N	0.999996	B	0.20780	0.048	B	0.10450	0.005	T	0.55679	-0.8103	10	0.20519	T	0.43	.	6.0546	0.19804	0.2594:0.135:0.6056:0.0	.	279	Q9NYR8	RDH8_HUMAN	Q	279	ENSP00000171214:R279Q	ENSP00000171214:R279Q	R	+	2	0	RDH8	9993325	0.000000	0.05858	0.020000	0.16555	0.213000	0.24496	0.376000	0.20535	-0.025000	0.13918	0.297000	0.19635	CGA		PASS	0.627	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				11	18	11	18	---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10557008	10557008	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10557008C>T	ENST00000352831.6	+	2	545	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PDE4A_ENST00000440014.2_Silent_p.S84S|PDE4A_ENST00000592685.1_Silent_p.S123S|PDE4A_ENST00000380702.2_Silent_p.S123S|PDE4A_ENST00000293683.5_Silent_p.S119S	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	145					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)	p.S119S(1)|p.S84S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCCGGGAGTCCTTCCTGTACC	0.662																																						uc002moj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(433-435)TCC>TCT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						61.0	44.0	49.0					19																	10557008		1568	3582	5150	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10557008C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.435C>T	19.37:g.10557008C>T						PDE4A_uc002mok.2_Silent_p.S119S|PDE4A_uc002mol.2_Silent_p.S84S	p.S145S	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		2	543	+			145					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.435C>T	CCDS45961.1																																																																																				PASS	0.662	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			7	16	7	16	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602625	10602625	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10602625G>A	ENST00000171111.5	-	3	1500	c.953C>T	c.(952-954)cCc>cTc	p.P318L	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.P318L|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	318					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.P318L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGCCCGGCAGGGCATCACCTG	0.642																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(952-954)CCC>CTC		kelch-like ECH-associated protein 1							37.0	41.0	40.0					19																	10602625		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602625G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.953C>T	19.37:g.10602625G>A	ENSP00000171111:p.Pro318Leu					KEAP1_uc002mop.1_Missense_Mutation_p.P36L|KEAP1_uc002mor.1_Missense_Mutation_p.P318L	p.P318L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1109	-			318					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.953C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018144	0.93404	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72835	-0.69;-0.69	5.61	5.61	0.85477	.	0.164809	0.56097	D	0.000037	T	0.80025	0.4548	M	0.70275	2.135	0.80722	D	1	P	0.52577	0.954	P	0.54706	0.759	T	0.80598	-0.1311	10	0.51188	T	0.08	.	17.1459	0.86766	0.0:0.0:1.0:0.0	.	318	Q14145	KEAP1_HUMAN	L	318	ENSP00000171111:P318L;ENSP00000377245:P318L	ENSP00000171111:P318L	P	-	2	0	KEAP1	10463625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.001000	0.63946	2.656000	0.90262	0.561000	0.74099	CCC		PASS	0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	20	5	20	---	---	---	---
KRI1	65095	broad.mit.edu	37	19	10671754	10671754	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10671754G>A	ENST00000312962.6	-	8	625	c.606C>T	c.(604-606)gcC>gcT	p.A202A	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.A198A	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	196	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A202A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTCCTCCTGGGCCTGGGGGA	0.612																																						uc002moy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(604-606)GCC>GCT		KRI1 homolog							109.0	88.0	95.0					19																	10671754		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10671754G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.606C>T	19.37:g.10671754G>A						KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.A198A	p.A202A	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		8	615	-			202			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.606C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037683	0.19669	.	.	ENSG00000129347	ENST00000543682	.	.	.	4.56	-0.216	0.13153	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32052	-0.9921	4	.	.	.	-22.2135	2.3407	0.04259	0.1824:0.3999:0.2766:0.1411	.	.	.	.	L	140	.	.	P	-	2	0	KRI1	10532754	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	1.064000	0.30579	0.529000	0.28599	-0.502000	0.04539	CCC		PASS	0.612	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		16	27	16	27	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10893691	10893691	+	Silent	SNP	C	C	T	rs572493411		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10893691C>T	ENST00000355667.6	+	6	824	c.744C>T	c.(742-744)atC>atT	p.I248I	DNM2_ENST00000408974.4_Silent_p.I248I|DNM2_ENST00000359692.6_Silent_p.I248I|DNM2_ENST00000585892.1_Silent_p.I248I|DNM2_ENST00000314646.5_Silent_p.I248I|DNM2_ENST00000389253.4_Silent_p.I248I|MIR4748_ENST00000578076.1_RNA	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	248	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.I248I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGAAGGACATCCGTGCAGCAC	0.607			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(742-744)ATC>ATT		dynamin 2 isoform 2							94.0	65.0	75.0					19																	10893691		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893691C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.744C>T	19.37:g.10893691C>T						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.I248I|DNM2_uc002mpv.1_Silent_p.I248I|DNM2_uc002mpu.1_Silent_p.I248I|DNM2_uc010dxl.1_Silent_p.I248I|DNM2_uc002mpw.2_5'UTR	p.I248I	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	908	+			248					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.744C>T	CCDS45968.1																																																																																				PASS	0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		6	23	6	23	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11094861	11094862	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11094861_11094862CC>TT	ENST00000429416.3	+	3	315_316	c.34_35CC>TT	c.(34-36)CCt>TTt	p.P12F	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P12F|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P12F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P12F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P12F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P12F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P12F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P12F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P12F	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	12	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P12S(2)|p.P12F(2)|p.P12L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGCGGAACTCCTCGGCCAGGT	0.688			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		7	Substitution - Missense(6)|Unknown(1)	p.?(1)	lung(7)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(34-36)CCT>TCT|c.(34-36)CCT>CTT		SWI/SNF-related matrix-associated																																				SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11094861C>T|g.chr19:11094862C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	Exception_encountered	19.37:g.11094861_11094862delinsTT	ENSP00000395654:p.Pro12Phe					SMARCA4_uc010dxp.2_Missense_Mutation_p.P12S|SMARCA4_uc010dxo.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P12S|SMARCA4_uc010dxq.2_Missense_Mutation_p.P12S|SMARCA4_uc010dxr.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqj.3_Missense_Mutation_p.P12S|SMARCA4_uc010dxs.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P12S|SMARCA4_uc010dxp.2_Missense_Mutation_p.P12L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P12L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P12L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P12L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P12L	p.P12S|p.P12L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			2	318|319	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	12			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.34C>T|c.35C>T	CCDS12253.1																																																																																				PASS	0.688	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		4	15	4	15	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11313129	11313129	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11313129C>A	ENST00000294618.7	-	43	5403	c.5392G>T	c.(5392-5394)Gtc>Ttc	p.V1798F	DOCK6_ENST00000319867.7_Missense_Mutation_p.V1137F|CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1798	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1800F(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATCTCAACGACGTCGTCGCCA	0.552																																						uc002mqs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(5392-5394)GTC>TTC		dedicator of cytokinesis 6							62.0	64.0	63.0					19																	11313129		1931	4137	6068	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11313129C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5392G>T	19.37:g.11313129C>A	ENSP00000294618:p.Val1798Phe					DOCK6_uc002mqr.3_Missense_Mutation_p.V198F|DOCK6_uc010xlq.1_Missense_Mutation_p.V1137F	p.V1798F	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			43	5433	-			1798			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.5392G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	0.109	-1.141277	0.01728	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.23348	2.65;1.91	4.72	2.43	0.29744	.	0.309618	0.30930	N	0.008590	T	0.12178	0.0296	N	0.25647	0.755	0.34270	D	0.680901	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.002;0.006;0.002	T	0.16988	-1.0384	10	0.07990	T	0.79	-14.9025	3.7062	0.08401	0.0:0.522:0.1894:0.2886	.	1137;1798;1137	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	F	1798;1137	ENSP00000294618:V1798F;ENSP00000321556:V1137F	ENSP00000294618:V1798F	V	-	1	0	DOCK6	11174129	0.194000	0.23325	0.957000	0.39632	0.110000	0.19582	0.649000	0.24843	0.988000	0.38734	0.555000	0.69702	GTC		PASS	0.552	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	25	8	25	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11489065	11489065	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11489065C>T	ENST00000222139.6	-	8	1226	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	374					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)	p.W374*(1)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GGGGCAGCAACCATTTGTCCA	0.622											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mrj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1120-1122)TGG>TGA		erythropoietin receptor precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						65.0	62.0	63.0					19																	11489065		2203	4300	6503	SO:0001587	stop_gained	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489065C>T	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1122G>A	19.37:g.11489065C>T	ENSP00000222139:p.Trp374*		OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_uc002mrh.2_Nonsense_Mutation_p.W33*|EPOR_uc002mri.2_Nonsense_Mutation_p.W201*|EPOR_uc002mrk.1_Nonsense_Mutation_p.W201*|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Nonsense_Mutation_p.W201*	p.W374*	NM_000121	NP_000112	P19235	EPOR_HUMAN			8	1258	-			374			Cytoplasmic (Potential).		B2RCG4|Q15443|Q2M205	Nonsense_Mutation	SNP	ENST00000222139.6	37	c.1122G>A	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509199	0.64410	.	.	ENSG00000187266	ENST00000222139	.	.	.	5.13	2.84	0.33178	.	1.123250	0.06551	N	0.744955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.6758	12.4275	0.55556	0.0:0.5538:0.4462:0.0	.	.	.	.	X	374	.	ENSP00000222139:W374X	W	-	3	0	EPOR	11350065	0.349000	0.24870	0.971000	0.41717	0.206000	0.24218	1.626000	0.37039	1.141000	0.42275	0.650000	0.86243	TGG		PASS	0.622	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			6	17	6	17	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832689	11832689	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11832689G>A	ENST00000341191.6	-	4	1813	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF823_ENST00000545749.1_Missense_Mutation_p.P372S	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	554					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.P554S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CATTCATAGGGTTTCTCTCCA	0.428										HNSCC(68;0.2)																												uc002msm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1660-1662)CCC>TCC		ZFP-36 for a zinc finger protein							81.0	82.0	82.0					19																	11832689		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832689G>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1660C>T	19.37:g.11832689G>A	ENSP00000340683:p.Pro554Ser	HNSCC(68;0.2)				ZNF823_uc010xmd.1_Missense_Mutation_p.P372S|ZNF823_uc010dyi.1_Missense_Mutation_p.P510S	p.P554S	NM_001080493	NP_001073962	P16415	ZN823_HUMAN			4	1786	-			554					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1660C>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	13.88	2.370182	0.42003	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.28454	1.61;1.61	0.856	0.856	0.19019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.55481	1.735	0.35672	D	0.813417	B	0.24258	0.1	B	0.18263	0.021	T	0.33445	-0.9868	9	0.56958	D	0.05	.	9.2232	0.37390	0.0:0.0:1.0:0.0	.	554	P16415	ZN823_HUMAN	S	372;554	ENSP00000440162:P372S;ENSP00000340683:P554S	ENSP00000340683:P554S	P	-	1	0	ZNF823	11693689	0.999000	0.42202	0.091000	0.20842	0.419000	0.31324	3.484000	0.53201	0.753000	0.32945	0.305000	0.20034	CCC		PASS	0.428	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		25	38	25	38	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11891967	11891967	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11891967G>A	ENST00000357901.4	+	4	1430	c.1328G>A	c.(1327-1329)gGg>gAg	p.G443E	ZNF441_ENST00000454339.2_Missense_Mutation_p.G376E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	443					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.G443E(1)|p.G376E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCACACTGGGGAGAGACCC	0.388																																						uc010dyj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1327-1329)GGG>GAG		zinc finger protein 441							43.0	45.0	44.0					19																	11891967		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891967G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1328G>A	19.37:g.11891967G>A	ENSP00000350576:p.Gly443Glu					ZNF441_uc002msn.3_Missense_Mutation_p.G399E	p.G443E	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1522	+			443						Missense_Mutation	SNP	ENST00000357901.4	37	c.1328G>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	19.99	3.928154	0.73327	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.25749	1.78;1.78	1.22	1.22	0.21188	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44644	0.1303	M	0.65677	2.01	0.45502	D	0.998466	D	0.89917	1.0	D	0.97110	1.0	T	0.45469	-0.9259	9	0.72032	D	0.01	.	9.9894	0.41860	0.0:0.0:1.0:0.0	.	443	Q8N8Z8	ZN441_HUMAN	E	399;443;376	ENSP00000350576:G443E;ENSP00000403738:G376E	ENSP00000350576:G443E	G	+	2	0	ZNF441	11752967	0.977000	0.34250	0.016000	0.15963	0.732000	0.41865	2.682000	0.46934	0.968000	0.38212	0.305000	0.20034	GGG		PASS	0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		6	41	6	41	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11892026	11892026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11892026C>T	ENST00000357901.4	+	4	1489	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.R396*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	463					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.R463*(1)|p.R396*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATTACATTCGAGTACATGA	0.388																																						uc010dyj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1387-1389)CGA>TGA		zinc finger protein 441							54.0	57.0	56.0					19																	11892026		2203	4300	6503	SO:0001587	stop_gained	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892026C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1387C>T	19.37:g.11892026C>T	ENSP00000350576:p.Arg463*					ZNF441_uc002msn.3_Nonsense_Mutation_p.R419*	p.R463*	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1581	+			463			C2H2-type 11.			Nonsense_Mutation	SNP	ENST00000357901.4	37	c.1387C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	34	5.361652	0.95877	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.22	-2.27	0.06846	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	0.263	0.00221	0.3774:0.2236:0.1901:0.2089	.	.	.	.	X	419;463;396	.	ENSP00000350576:R463X	R	+	1	2	ZNF441	11753026	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	-0.832000	0.04400	-0.584000	0.05913	0.305000	0.20034	CGA		PASS	0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		11	39	11	39	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11892203	11892203	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11892203G>A	ENST00000357901.4	+	4	1666	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	ZNF441_ENST00000454339.2_Missense_Mutation_p.E455K	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	522					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.E522K(1)|p.E455K(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGAAGACATGAAAGAATTCA	0.413																																						uc010dyj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1564-1566)GAA>AAA		zinc finger protein 441							63.0	64.0	64.0					19																	11892203		2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892203G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1564G>A	19.37:g.11892203G>A	ENSP00000350576:p.Glu522Lys					ZNF441_uc002msn.3_Missense_Mutation_p.E478K	p.E522K	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	1758	+			522			C2H2-type 13.			Missense_Mutation	SNP	ENST00000357901.4	37	c.1564G>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	16.42	3.118390	0.56505	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.17370	2.28;2.28	1.22	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.12443	0.215	0.23449	N	0.997659	B	0.13145	0.007	B	0.16289	0.015	T	0.34675	-0.9819	9	0.35671	T	0.21	.	3.6572	0.08225	0.2986:0.3772:0.3242:0.0	.	522	Q8N8Z8	ZN441_HUMAN	K	478;522;455	ENSP00000350576:E522K;ENSP00000403738:E455K	ENSP00000350576:E522K	E	+	1	0	ZNF441	11753203	0.000000	0.05858	0.009000	0.14445	0.945000	0.59286	-3.406000	0.00482	-0.348000	0.08286	0.305000	0.20034	GAA		PASS	0.413	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		23	41	23	41	---	---	---	---
ZNF439	90594	broad.mit.edu	37	19	11979089	11979089	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:11979089G>A	ENST00000304030.2	+	3	1405	c.1205G>A	c.(1204-1206)aGg>aAg	p.R402K	ZNF439_ENST00000455282.1_Missense_Mutation_p.R266K|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	402					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.R402K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TATCATGAAAGGACTCACACT	0.438																																						uc002mss.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1204-1206)AGG>AAG		zinc finger protein 439							63.0	61.0	62.0					19																	11979089		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11979089G>A	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1205G>A	19.37:g.11979089G>A	ENSP00000305077:p.Arg402Lys					ZNF439_uc002msr.2_Missense_Mutation_p.R266K	p.R402K	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	1333	+			402			C2H2-type 8.		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.1205G>A	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.237122	0.39498	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.18338	2.22;2.22	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11922	0.0290	N	0.16368	0.405	0.09310	N	1	P	0.35745	0.518	B	0.39805	0.31	T	0.30504	-0.9976	9	0.54805	T	0.06	.	8.6675	0.34130	0.0:0.0:1.0:0.0	.	402	Q8NDP4	ZN439_HUMAN	K	266;402	ENSP00000395632:R266K;ENSP00000305077:R402K	ENSP00000305077:R402K	R	+	2	0	ZNF439	11840089	0.000000	0.05858	0.067000	0.19924	0.076000	0.17211	-0.071000	0.11505	0.577000	0.29470	0.194000	0.17425	AGG		PASS	0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			11	31	11	31	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060004	12060004	+	Missense_Mutation	SNP	C	C	T	rs376117710		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:12060004C>T	ENST00000254321.5	+	4	1308	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.R371C|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	389					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.R389C(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGGAGAGAAACGCTATAAATG	0.383																																						uc002msu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1165-1167)CGC>TGC		zinc finger protein 700		C	CYS/ARG	0,4406		0,0,2203	53.0	56.0	55.0		1165	0.7	0.3	19		55	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF700	NM_144566.1	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	389/743	12060004	2,13004	2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060004C>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1165C>T	19.37:g.12060004C>T	ENSP00000254321:p.Arg389Cys					ZNF700_uc010xme.1_Missense_Mutation_p.R407C|ZNF763_uc010xmf.1_Intron	p.R389C	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1291	+			389					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1165C>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816818	0.50633	0.0	2.33E-4	ENSG00000196757	ENST00000254321	T	0.07688	3.17	0.672	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11836	0.0288	N	0.21097	0.63	0.30562	N	0.764426	D	0.76494	0.999	P	0.59703	0.862	T	0.17961	-1.0352	9	0.87932	D	0	.	8.8188	0.35011	0.0:1.0:0.0:0.0	.	389	Q9H0M5	ZN700_HUMAN	C	389	ENSP00000254321:R389C	ENSP00000254321:R389C	R	+	1	0	ZNF700	11921004	0.032000	0.19561	0.350000	0.25708	0.204000	0.24138	2.934000	0.48956	0.623000	0.30267	0.305000	0.20034	CGC		PASS	0.383	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		14	38	14	38	---	---	---	---
ZNF700	90592	broad.mit.edu	37	19	12060728	12060728	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:12060728G>A	ENST00000254321.5	+	4	2032	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.R612K|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	630					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.R630K(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AAAGCCTTCAGATCTGCCTCA	0.438																																						uc002msu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1888-1890)AGA>AAA		zinc finger protein 700							84.0	83.0	83.0					19																	12060728		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060728G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1889G>A	19.37:g.12060728G>A	ENSP00000254321:p.Arg630Lys					ZNF700_uc010xme.1_Missense_Mutation_p.R648K|ZNF763_uc010xmf.1_Intron	p.R630K	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	2015	+			630			C2H2-type 15.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1889G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	5.878	0.346059	0.11126	.	.	ENSG00000196757	ENST00000254321	T	0.07114	3.22	0.563	-0.585	0.11698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02420	-0.555	0.09310	N	1	P	0.43578	0.811	P	0.46796	0.527	T	0.25916	-1.0118	9	0.30854	T	0.27	.	1.8343	0.03136	0.4584:0.0:0.2649:0.2766	.	630	Q9H0M5	ZN700_HUMAN	K	630	ENSP00000254321:R630K	ENSP00000254321:R630K	R	+	2	0	ZNF700	11921728	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.676000	0.00840	-0.280000	0.09154	0.313000	0.20887	AGA		PASS	0.438	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		14	50	14	50	---	---	---	---
ZNF709	163051	broad.mit.edu	37	19	12575525	12575525	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:12575525G>A	ENST00000397732.3	-	4	1382	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.S404F	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	404					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.S404F(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AAAGGAACTGGAACAACTGAA	0.403																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)TCC>TTC		zinc finger protein 709 isoform a							103.0	108.0	106.0					19																	12575525		2202	4300	6502	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575525G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1211C>T	19.37:g.12575525G>A	ENSP00000380840:p.Ser404Phe					ZNF709_uc002mtw.3_Missense_Mutation_p.S372F|ZNF709_uc002mtx.3_Missense_Mutation_p.S404F	p.S404F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			4	1372	-			404			C2H2-type 11.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1211C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	7.861	0.726121	0.15439	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.37584	1.19;1.19	2.89	0.707	0.18139	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.523692	0.14461	N	0.318211	T	0.19366	0.0465	L	0.44542	1.39	0.09310	N	1	P	0.41546	0.754	B	0.32090	0.14	T	0.12915	-1.0529	10	0.16896	T	0.51	.	3.866	0.09016	0.2287:0.0:0.5819:0.1894	.	404	Q8N972	ZN709_HUMAN	F	404	ENSP00000380840:S404F;ENSP00000404127:S404F	ENSP00000404127:S404F	S	-	2	0	ZNF709;CTD-2192J16.17	12436525	0.000000	0.05858	0.025000	0.17156	0.908000	0.53690	-0.609000	0.05635	0.282000	0.22254	0.467000	0.42956	TCC		PASS	0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	67	8	67	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12739979	12739979	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:12739979C>T	ENST00000343325.4	+	4	1798	c.1636C>T	c.(1636-1638)Cac>Tac	p.H546Y	ZNF791_ENST00000540038.1_Missense_Mutation_p.H437Y|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.H514Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	546					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.H546Y(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TACAAGAATTCACAATTATGA	0.368																																						uc002mua.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1636-1638)CAC>TAC		zinc finger protein 791							80.0	85.0	83.0					19																	12739979		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739979C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1636C>T	19.37:g.12739979C>T	ENSP00000342974:p.His546Tyr					ZNF791_uc010xml.1_Missense_Mutation_p.H514Y|ZNF791_uc010dyu.1_Missense_Mutation_p.H437Y|ZNF791_uc010xmm.1_Missense_Mutation_p.H437Y	p.H546Y	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1798	+			546			C2H2-type 16.		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1636C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861789	0.32884	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.67523	-0.27;-0.27;-0.27	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84479	0.5481	M	0.94142	3.5	0.26730	N	0.970601	D	0.89917	1.0	D	0.91635	0.999	T	0.73104	-0.4088	9	0.87932	D	0	.	9.2247	0.37398	0.0:1.0:0.0:0.0	.	546	Q3KP31	ZN791_HUMAN	Y	546;514;437	ENSP00000342974:H546Y;ENSP00000441761:H514Y;ENSP00000441038:H437Y	ENSP00000342974:H546Y	H	+	1	0	ZNF791	12600979	1.000000	0.71417	0.873000	0.34254	0.345000	0.29048	6.417000	0.73337	1.007000	0.39238	0.491000	0.48974	CAC		PASS	0.368	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		14	42	14	42	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13566011	13566011	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:13566011C>T	ENST00000360228.5	-	2	308	c.309G>A	c.(307-309)atG>atA	p.M103I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M103I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	103					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.M103I(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCTAAAATCATATATTCAA	0.483																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(307-309)ATG>ATA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						155.0	155.0	155.0					19																	13566011		2009	4199	6208	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13566011C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.309G>A	19.37:g.13566011C>T	ENSP00000353362:p.Met103Ile					CACNA1A_uc002mwy.3_Missense_Mutation_p.M103I	p.M103I	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		2	545	-			103			Helical; Name=S1 of repeat I; (Potential).|I.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.309G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028853	0.54790	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.53857	0.6	5.01	5.01	0.66863	.	0.054641	0.64402	D	0.000001	T	0.65291	0.2677	L	0.46614	1.455	0.58432	D	0.999994	P;D	0.54964	0.936;0.969	P;D	0.63381	0.885;0.914	T	0.66622	-0.5877	10	0.56958	D	0.05	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	103;103	O00555;Q9NS88	CAC1A_HUMAN;.	I	103	ENSP00000353362:M103I	ENSP00000317661:M103I	M	-	3	0	CACNA1A	13427011	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.684000	0.84104	2.489000	0.83994	0.655000	0.94253	ATG		PASS	0.483	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		22	83	22	83	---	---	---	---
ASF1B	55723	broad.mit.edu	37	19	14236970	14236970	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:14236970G>A	ENST00000263382.3	-	2	688	c.189C>T	c.(187-189)ggC>ggT	p.G63G	ASF1B_ENST00000474890.1_Silent_p.G63G|ASF1B_ENST00000592798.1_Silent_p.G63G	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	63	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.G63G(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CTGGCACAGGGCCCACCAGCA	0.478																																						uc002mye.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)GGC>GGT		anti-silencing function 1B							116.0	108.0	111.0					19																	14236970		2203	4300	6503	SO:0001819	synonymous_variant	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14236970G>A	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.189C>T	19.37:g.14236970G>A							p.G63G	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			2	361	-			63			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Silent	SNP	ENST00000263382.3	37	c.189C>T	CCDS12306.1																																																																																				PASS	0.478	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		9	27	9	27	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14266334	14266334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:14266334C>T	ENST00000340736.6	-	19	3443	c.3146G>A	c.(3145-3147)tGg>tAg	p.W1049*	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Nonsense_Mutation_p.W1044*|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1049					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.W1049*(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCAGCGCCCAGGATCTGGG	0.667																																						uc010xnn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3145-3147)TGG>TAG		latrophilin 1 isoform 1 precursor							37.0	41.0	40.0					19																	14266334		2203	4300	6503	SO:0001587	stop_gained	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266334C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3146G>A	19.37:g.14266334C>T	ENSP00000340688:p.Trp1049*					LPHN1_uc010xno.1_Nonsense_Mutation_p.W1044*|uc002myf.2_Intron	p.W1049*	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			19	3442	-			1049			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Nonsense_Mutation	SNP	ENST00000340736.6	37	c.3146G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	43	9.890606	0.99289	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8874	0.79261	0.0:1.0:0.0:0.0	.	.	.	.	X	1049;1044	.	ENSP00000340688:W1049X	W	-	2	0	LPHN1	14127334	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.425000	0.80255	2.334000	0.79466	0.561000	0.74099	TGG		PASS	0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		7	21	7	21	---	---	---	---
DNAJB1	3337	broad.mit.edu	37	19	14629122	14629122	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:14629122C>A	ENST00000254322.2	-	1	110	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	14	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.G14C(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TCCGACGCGCCGCGGGCCAGG	0.706																																						uc002myz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GGC>TGC		DnaJ (Hsp40) homolog, subfamily B, member 1							32.0	29.0	30.0					19																	14629122		2200	4298	6498	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14629122C>A	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.40G>T	19.37:g.14629122C>A	ENSP00000254322:p.Gly14Cys					DNAJB1_uc010xnr.1_Intron	p.G14C	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	1	80	-			14			J.		B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.40G>T	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	N	25.6	4.652186	0.88056	.	.	ENSG00000132002	ENST00000254322	T	0.74315	-0.83	5.15	2.98	0.34508	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	L	0.41961	1.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77046	-0.2733	10	0.87932	D	0	.	8.072	0.30695	0.1584:0.7564:0.0:0.0852	.	14	P25685	DNJB1_HUMAN	C	14	ENSP00000254322:G14C	ENSP00000254322:G14C	G	-	1	0	DNAJB1	14490122	0.982000	0.34865	1.000000	0.80357	0.963000	0.63663	4.631000	0.61304	0.561000	0.29186	0.478000	0.44815	GGC		PASS	0.706	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		3	10	3	10	---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14806396	14806396	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:14806396C>T	ENST00000292530.6	+	4	237	c.146C>T	c.(145-147)cCc>cTc	p.P49L	ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Missense_Mutation_p.P49L	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	49	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.P49L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCATGCAAACCCAGTTGTGTC	0.527																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(145-147)CCC>CTC		zinc finger protein 333							112.0	92.0	99.0					19																	14806396		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14806396C>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.146C>T	19.37:g.14806396C>T	ENSP00000292530:p.Pro49Leu					ZNF333_uc010dzq.2_Missense_Mutation_p.P49L|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.P49L|ZNF333_uc002mzm.2_Intron|ZNF333_uc010dzr.1_RNA	p.P49L	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			4	280	+			49			KRAB 1.		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.146C>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462683	0.43736	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	T;T	0.01025	5.43;5.43	2.62	1.53	0.23141	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.52823	1.66	0.09310	N	0.999996	B;P	0.39480	0.11;0.675	B;B	0.23275	0.039;0.045	T	0.50440	-0.8828	9	0.54805	T	0.06	.	7.2234	0.26002	0.0:0.6867:0.3133:0.0	.	49;49	Q96JL9;Q6P2E6	ZN333_HUMAN;.	L	49	ENSP00000438130:P49L;ENSP00000292530:P49L	ENSP00000292530:P49L	P	+	2	0	ZNF333	14667396	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	0.026000	0.13599	0.426000	0.26116	0.511000	0.50034	CCC		PASS	0.527	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		4	17	4	17	---	---	---	---
OR7C2	26658	broad.mit.edu	37	19	15053203	15053203	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15053203G>A	ENST00000248072.3	+	1	903	c.903G>A	c.(901-903)ggG>ggA	p.G301G		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G301G(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGTCACTGGGGAGACTCCTCC	0.542																																						uc010xoc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(901-903)GGG>GGA		olfactory receptor, family 7, subfamily C,							65.0	62.0	63.0					19																	15053203		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15053203G>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.903G>A	19.37:g.15053203G>A							p.G301G	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	903	+	Ovarian(108;0.203)		301			Cytoplasmic (Potential).		O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.903G>A	CCDS12320.1																																																																																				PASS	0.542	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			12	20	12	20	---	---	---	---
OR7C2	26658	broad.mit.edu	37	19	15053234	15053234	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15053234G>A	ENST00000248072.3	+	1	934	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E312K(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTCTCTCAAAGAGGGGACCAT	0.493																																						uc010xoc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(934-936)GAG>AAG		olfactory receptor, family 7, subfamily C,							51.0	50.0	50.0					19																	15053234		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15053234G>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.934G>A	19.37:g.15053234G>A	ENSP00000248072:p.Glu312Lys						p.E312K	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	934	+	Ovarian(108;0.203)		312			Cytoplasmic (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.934G>A	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	g	1.601	-0.526645	0.04141	.	.	ENSG00000127529	ENST00000248072	T	0.06142	3.34	3.32	-0.149	0.13420	.	2.729430	0.01901	U	0.039229	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33675	-0.9859	10	0.06236	T	0.91	.	3.6587	0.08230	0.2428:0.2077:0.5495:0.0	.	312	O60412	OR7C2_HUMAN	K	312	ENSP00000248072:E312K	ENSP00000248072:E312K	E	+	1	0	OR7C2	14914234	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.495000	0.06443	0.079000	0.16929	0.492000	0.49549	GAG		PASS	0.493	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			7	22	7	22	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15132449	15132450	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15132449_15132450GG>AA	ENST00000292574.3	+	5	1145_1146	c.1063_1064GG>AA	c.(1063-1065)GGa>AAa	p.G355K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	355						extracellular vesicular exosome (GO:0070062)		p.G355E(1)|p.G355K(1)|p.G355R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TATGACGTTAGGACTGATGAGG	0.589																																						uc002nae.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1063-1065)GGA>AGA|c.(1063-1065)GGA>GAA		coiled-coil domain containing 105																																				SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132449G>A|g.chr19:15132450G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		Exception_encountered	19.37:g.15132449_15132450delinsAA	ENSP00000292574:p.Gly355Lys						p.G355R|p.G355E	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			5	1162|1163	+			355					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1063G>A|c.1064G>A	CCDS12322.1																																																																																				PASS	0.589	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		8	34	8	34	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15296349	15296349	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15296349G>A	ENST00000263388.2	-	13	2168	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	698	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.P698L(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGGGCACAGGGATGGCTCGG	0.672																																						uc002nan.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(2092-2094)CCC>CTC		Notch homolog 3 precursor							50.0	43.0	45.0					19																	15296349		2203	4299	6502	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296349G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2093C>T	19.37:g.15296349G>A	ENSP00000263388:p.Pro698Leu					NOTCH3_uc002nao.1_Missense_Mutation_p.P698L	p.P698L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		13	2169	-			698			Extracellular (Potential).|EGF-like 18.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2093C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184956	0.57909	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87729	-2.29	5.11	2.78	0.32641	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32015	N	0.006706	D	0.82467	0.5043	L	0.42581	1.335	0.46458	D	0.999058	B;B	0.31040	0.049;0.305	B;B	0.32583	0.054;0.148	T	0.82458	-0.0447	10	0.87932	D	0	.	12.4097	0.55459	0.0:0.0:0.6958:0.3042	.	701;698	Q59FL3;Q9UM47	.;NOTC3_HUMAN	L	698;700	ENSP00000263388:P698L	ENSP00000263388:P698L	P	-	2	0	NOTCH3	15157349	1.000000	0.71417	0.990000	0.47175	0.917000	0.54804	2.714000	0.47202	1.116000	0.41820	0.655000	0.94253	CCC		PASS	0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		7	12	7	12	---	---	---	---
EPHX3	79852	broad.mit.edu	37	19	15338338	15338338	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15338338G>A	ENST00000221730.3	-	7	1213	c.993C>T	c.(991-993)atC>atT	p.I331I	EPHX3_ENST00000435261.1_Silent_p.I331I|EPHX3_ENST00000602233.1_Silent_p.I331I	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	331						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.I331I(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TGCCTGGCAGGATGTGGGCCT	0.612																																						uc002nap.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(991-993)ATC>ATT		abhydrolase domain containing 9 precursor							70.0	65.0	66.0					19																	15338338		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15338338G>A	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.993C>T	19.37:g.15338338G>A						EPHX3_uc002naq.2_Silent_p.I331I	p.I331I	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN			7	1202	-			331					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.993C>T	CCDS12327.1																																																																																				PASS	0.612	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		9	17	9	17	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15769356	15769356	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15769356G>A	ENST00000221307.8	+	11	1352	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	CYP4F3_ENST00000586182.2_Silent_p.P435P|CYP4F3_ENST00000585846.1_Silent_p.P435P|CYP4F3_ENST00000591058.1_Silent_p.P435P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	435					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.P435P(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCGTGTGGCCGGACCCTGAGG	0.577																																						uc002nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1303-1305)CCG>CCA		cytochrome P450, family 4, subfamily F,							117.0	131.0	126.0					19																	15769356		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769356G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1305G>A	19.37:g.15769356G>A						CYP4F3_uc010xok.1_Silent_p.P435P|CYP4F3_uc010xol.1_Silent_p.P435P|CYP4F3_uc010xom.1_Silent_p.P286P|CYP4F3_uc002nbk.2_Silent_p.P435P|CYP4F3_uc010xon.1_Silent_p.P145P	p.P435P	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			11	1355	+			435					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1305G>A	CCDS12332.1																																																																																				PASS	0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		18	44	18	44	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15770159	15770159	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15770159G>A	ENST00000221307.8	+	13	1574	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	CYP4F3_ENST00000586182.2_Silent_p.E509E|CYP4F3_ENST00000585846.1_Silent_p.E509E|CYP4F3_ENST00000591058.1_Silent_p.E509E	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	509					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.E509E(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCGCGCAGAGGGCGGACTTT	0.637																																						uc002nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1525-1527)GAG>GAA		cytochrome P450, family 4, subfamily F,							11.0	13.0	12.0					19																	15770159		2195	4260	6455	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770159G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1527G>A	19.37:g.15770159G>A						CYP4F3_uc010xok.1_Silent_p.E509E|CYP4F3_uc010xol.1_Silent_p.E509E|CYP4F3_uc010xom.1_Silent_p.E360E|CYP4F3_uc002nbk.2_Silent_p.E509E|CYP4F3_uc010xon.1_Silent_p.E219E	p.E509E	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			13	1577	+			509					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1527G>A	CCDS12332.1																																																																																				PASS	0.637	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		4	14	4	14	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839433	15839433	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15839433C>T	ENST00000305899.3	+	1	600	c.580C>T	c.(580-582)Cca>Tca	p.P194S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P194S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					AAATAATGTACCAGCTGTGGC	0.507																																						uc002nbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(580-582)CCA>TCA		olfactory receptor, family 10, subfamily H,							185.0	158.0	167.0					19																	15839433		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839433C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.580C>T	19.37:g.15839433C>T	ENSP00000306095:p.Pro194Ser						p.P194S	NM_013939	NP_039227	O60403	O10H2_HUMAN			1	600	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		194			Extracellular (Potential).		Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.580C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.940102	0.00479	.	.	ENSG00000171942	ENST00000305899	T	0.00044	8.83	3.4	0.833	0.18875	GPCR, rhodopsin-like superfamily (1);	0.664593	0.13226	N	0.403992	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.02053	-1.1222	10	0.10636	T	0.68	.	4.4154	0.11454	0.0:0.4298:0.0:0.5702	.	194	O60403	O10H2_HUMAN	S	194	ENSP00000306095:P194S	ENSP00000306095:P194S	P	+	1	0	OR10H2	15700433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.698000	0.01908	0.409000	0.25649	0.537000	0.68136	CCA		PASS	0.507	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			22	35	22	35	---	---	---	---
OR10H3	26532	broad.mit.edu	37	19	15852774	15852774	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:15852774G>A	ENST00000305892.1	+	1	572	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G191E(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGGCCTGTGGGAGCAAGACA	0.463																																						uc010xoq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GGG>GAG		olfactory receptor, family 10, subfamily H,							283.0	246.0	259.0					19																	15852774		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852774G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.572G>A	19.37:g.15852774G>A	ENSP00000307130:p.Gly191Glu						p.G191E	NM_013938	NP_039226	O60404	O10H3_HUMAN			1	572	+			191			Extracellular (Potential).		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.572G>A	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	7.454	0.643344	0.14451	.	.	ENSG00000171936	ENST00000305892	T	0.00084	8.75	1.77	-0.486	0.12064	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000899	T	0.00144	0.0004	L	0.31207	0.915	0.09310	N	0.999995	B	0.33120	0.398	B	0.43867	0.434	T	0.17379	-1.0371	10	0.16896	T	0.51	.	5.924	0.19099	0.315:0.0:0.685:0.0	.	191	O60404	O10H3_HUMAN	E	191	ENSP00000307130:G191E	ENSP00000307130:G191E	G	+	2	0	OR10H3	15713774	0.000000	0.05858	0.062000	0.19696	0.023000	0.10783	-0.010000	0.12743	-0.037000	0.13646	-1.111000	0.02071	GGG		PASS	0.463	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			32	65	32	65	---	---	---	---
OR10H4	126541	broad.mit.edu	37	19	16060372	16060372	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:16060372C>T	ENST00000322107.1	+	1	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L185L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGCTTTCCCTCTTGAAGTTGG	0.463																																						uc010xov.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(553-555)CTC>CTT		olfactory receptor, family 10, subfamily H,							277.0	246.0	256.0					19																	16060372		2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060372C>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.555C>T	19.37:g.16060372C>T							p.L185L	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	555	+			185			Extracellular (Potential).		Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.555C>T	CCDS32941.1																																																																																				PASS	0.463	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			15	62	15	62	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16279007	16279007	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:16279007G>A	ENST00000269878.4	-	4	336	c.287C>T	c.(286-288)tCc>tTc	p.S96F	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Missense_Mutation_p.S47F	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	96	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.S96F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACTCATCACGGAAAACATGTC	0.542																																						uc002nds.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)TCC>TTC		DNA-dependent protein kinase catalytic							73.0	61.0	65.0					19																	16279007		2203	4300	6503	SO:0001583	missense	117286						calcium ion binding	g.chr19:16279007G>A	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.287C>T	19.37:g.16279007G>A	ENSP00000269878:p.Ser96Phe					CIB3_uc010eae.2_Missense_Mutation_p.S35F|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Missense_Mutation_p.S47F	p.S96F	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN			4	287	-			96			EF-hand 1.		E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	c.287C>T	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019797	0.54576	.	.	ENSG00000141977	ENST00000269878;ENST00000379859	T;T	0.70045	-0.45;2.8	4.55	4.55	0.56014	EF-hand-like domain (1);	0.061474	0.64402	D	0.000002	D	0.85137	0.5628	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.98	D	0.89196	0.3554	10	0.87932	D	0	-21.2461	16.3225	0.82956	0.0:0.0:1.0:0.0	.	47;96	E7EUX1;Q96Q77	.;CIB3_HUMAN	F	96;47	ENSP00000269878:S96F;ENSP00000369188:S47F	ENSP00000269878:S96F	S	-	2	0	CIB3	16140007	1.000000	0.71417	0.939000	0.37840	0.067000	0.16453	9.604000	0.98317	2.096000	0.63516	0.448000	0.29417	TCC		PASS	0.542	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		9	13	9	13	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16613879	16613879	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:16613879C>T	ENST00000221671.3	+	3	919	c.763C>T	c.(763-765)Cca>Tca	p.P255S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.P255S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	255								p.P255S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATATCAGGTCCCATCTCAACT	0.408																																						uc002neh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)CCA>TCA		hypothetical protein LOC84167							64.0	64.0	64.0					19																	16613879		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16613879C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.763C>T	19.37:g.16613879C>T	ENSP00000221671:p.Pro255Ser					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.P255S|C19orf44_uc002neg.2_Missense_Mutation_p.P255S|C19orf44_uc010eai.1_RNA	p.P255S	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			3	836	+			255					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.763C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065175	0.20067	.	.	ENSG00000105072	ENST00000221671	.	.	.	3.67	-3.4	0.04853	.	0.771895	0.11476	N	0.560251	T	0.33294	0.0858	M	0.64997	1.995	0.09310	N	1	B;P	0.36199	0.452;0.543	B;B	0.37267	0.245;0.126	T	0.32161	-0.9917	9	0.56958	D	0.05	-8.4302	3.6675	0.08261	0.1601:0.263:0.4715:0.1055	.	255;255	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	S	255	.	ENSP00000221671:P255S	P	+	1	0	C19orf44	16474879	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.467000	0.22035	-0.261000	0.09405	-0.150000	0.13652	CCA		PASS	0.408	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		13	26	13	26	---	---	---	---
TMEM38A	79041	broad.mit.edu	37	19	16797209	16797209	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:16797209C>T	ENST00000187762.2	+	5	756	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	222						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S222F(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TTCATGGTGTCCTGTAAGGTA	0.557																																						uc002nes.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(664-666)TCC>TTC		transmembrane protein 38A							171.0	127.0	142.0					19																	16797209		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16797209C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.665C>T	19.37:g.16797209C>T	ENSP00000187762:p.Ser222Phe						p.S222F	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			5	756	+			222			Helical; (Potential).		A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.665C>T	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	17.91	3.504421	0.64410	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.93	4.93	0.64822	.	0.328249	0.32970	N	0.005427	T	0.37461	0.1004	L	0.29908	0.895	0.44402	D	0.997317	P	0.50369	0.934	P	0.49637	0.617	T	0.17289	-1.0374	9	0.09843	T	0.71	-36.827	7.2045	0.25899	0.0:0.8085:0.0:0.1915	.	222	Q9H6F2	TM38A_HUMAN	F	222	.	ENSP00000187762:S222F	S	+	2	0	TMEM38A	16658209	0.431000	0.25546	0.997000	0.53966	0.982000	0.71751	2.793000	0.47845	2.280000	0.76307	0.591000	0.81541	TCC		PASS	0.557	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		16	23	16	23	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16908679	16908679	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:16908679C>T	ENST00000552788.1	+	14	3441	c.3441C>T	c.(3439-3441)tcC>tcT	p.S1147S	NWD1_ENST00000339803.6_Silent_p.S1012S|NWD1_ENST00000549814.1_Silent_p.S1147S|NWD1_ENST00000523826.1_Silent_p.S941S|NWD1_ENST00000379808.3_Silent_p.S1147S|NWD1_ENST00000524140.2_Silent_p.S1147S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1147							ATP binding (GO:0005524)	p.S1012S(1)|p.S1147S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACGGGGTCCCTTGATGCGC	0.522																																						uc002neu.3																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(3439-3441)TCC>TCT		RecName: Full=NACHT and WD repeat domain-containing protein 1;							255.0	234.0	241.0					19																	16908679		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16908679C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3441C>T	19.37:g.16908679C>T						NWD1_uc002net.3_Silent_p.S1012S|NWD1_uc002nev.3_Silent_p.S941S	p.S1147S			Q149M9	NWD1_HUMAN			16	3863	+			1147			WD 8.		C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3441C>T																																																																																					PASS	0.522	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		74	96	74	96	---	---	---	---
F2RL3	9002	broad.mit.edu	37	19	17000411	17000411	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:17000411C>T	ENST00000248076.3	+	2	467	c.137C>T	c.(136-138)cCc>cTc	p.P46L	F2RL3_ENST00000599210.1_Missense_Mutation_p.P45S	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	46					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.P46L(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGCCTGCCCCCCGCGGCTAC	0.672																																						uc002nfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CCC>CTC		coagulation factor II (thrombin) receptor-like 3							58.0	60.0	59.0					19																	17000411		2203	4299	6502	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000411C>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.137C>T	19.37:g.17000411C>T	ENSP00000248076:p.Pro46Leu						p.P46L	NM_003950	NP_003941	Q96RI0	PAR4_HUMAN			2	312	+			46					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.137C>T	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883906	0.33255	.	.	ENSG00000127533	ENST00000248076	T	0.57273	0.41	3.46	1.26	0.21427	.	8.410570	0.00654	U	0.000564	T	0.43545	0.1252	L	0.27053	0.805	0.20764	N	0.999851	B	0.20368	0.044	B	0.17722	0.019	T	0.36744	-0.9735	10	0.59425	D	0.04	.	8.3235	0.32142	0.0:0.7988:0.0:0.2012	.	46	Q96RI0	PAR4_HUMAN	L	46	ENSP00000248076:P46L	ENSP00000248076:P46L	P	+	2	0	F2RL3	16861411	0.177000	0.23109	0.001000	0.08648	0.015000	0.08874	1.011000	0.29911	0.122000	0.18314	0.491000	0.48974	CCC		PASS	0.672	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			12	31	12	31	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476593	17476593	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:17476593G>A	ENST00000252590.4	-	3	742	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	227					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.P227P(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						CCTTGTCCAGGGGCAGGCAGA	0.572																																						uc002ngk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(679-681)CCC>CCT		plasmalemma vesicle associated protein							90.0	77.0	82.0					19																	17476593		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476593G>A	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.681C>T	19.37:g.17476593G>A							p.P227P	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	731	-			227			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.681C>T	CCDS32952.1																																																																																				PASS	0.572	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		15	27	15	27	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17945968	17945969	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:17945968_17945969CC>TT	ENST00000527670.1	-	14	1999_2000	c.1970_1971GG>AA	c.(1969-1971)cGG>cAA	p.R657Q	JAK3_ENST00000458235.1_Missense_Mutation_p.R657Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R657Q			P52333	JAK3_HUMAN	Janus kinase 3	657	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.R657Q(12)|p.R657R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGCCCCCTCCCGAGCCAGGAG	0.619		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		14	Substitution - Missense(12)|Substitution - coding silent(2)	p.R657Q(4)	haematopoietic_and_lymphoid_tissue(8)|lung(6)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1969-1971)CGG>CGA|c.(1969-1971)CGG>CAG		Janus kinase 3																																				SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945968C>T|g.chr19:17945969C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1970_1971delinsTT	19.37:g.17945968_17945969delinsTT	ENSP00000432511:p.Arg657Gln					JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.R657R|JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R657Q	p.R657R|p.R657Q	NM_000215	NP_000206	P52333	JAK3_HUMAN			15	2071|2070	-			657			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent|Missense_Mutation	SNP	ENST00000527670.1	37	c.1971G>A|c.1970G>A	CCDS12366.1																																																																																				PASS	0.619	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		6	17|16	6	16	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17950469	17950469	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:17950469G>A	ENST00000527670.1	-	9	1287	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	JAK3_ENST00000458235.1_Missense_Mutation_p.P420S|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.P420S			P52333	JAK3_HUMAN	Janus kinase 3	420	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.P420S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGACCAAGGGGGTTCTGCAAA	0.512		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1258-1260)CCC>TCC		Janus kinase 3							18.0	20.0	19.0					19																	17950469		2203	4299	6502	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950469G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1258C>T	19.37:g.17950469G>A	ENSP00000432511:p.Pro420Ser					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.P420S|JAK3_uc010xpx.1_Missense_Mutation_p.P420S	p.P420S	NM_000215	NP_000206	P52333	JAK3_HUMAN			10	1358	-			420			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1258C>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823439	0.02755	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.74315	-0.82;-0.82;-0.83	3.84	3.84	0.44239	SH2 motif (2);	0.291197	0.32819	N	0.005604	T	0.57844	0.2081	L	0.32530	0.975	0.34252	D	0.678906	P;B;P	0.37731	0.607;0.371;0.572	B;B;B	0.34652	0.187;0.142;0.052	T	0.63269	-0.6675	10	0.10636	T	0.68	-25.4493	11.1308	0.48345	0.0:0.0:1.0:0.0	.	420;420;420	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	S	420	ENSP00000391676:P420S;ENSP00000432511:P420S;ENSP00000436421:P420S	ENSP00000413248:P420S	P	-	1	0	JAK3	17811469	0.758000	0.28405	0.812000	0.32479	0.032000	0.12392	2.532000	0.45659	2.002000	0.58637	0.455000	0.32223	CCC		PASS	0.512	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	2	5	2	---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17985516	17985516	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:17985516T>C	ENST00000222248.3	+	4	866	c.519T>C	c.(517-519)atT>atC	p.I173I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	173					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.I173I(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCACCGGAATTATCTGCACCT	0.607																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(517-519)ATT>ATC		solute carrier family 5 (sodium iodide							89.0	79.0	82.0					19																	17985516		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17985516T>C		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.519T>C	19.37:g.17985516T>C							p.I173I	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			4	866	+			173			Helical; (Potential).		O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.519T>C	CCDS12368.1																																																																																				PASS	0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			10	14	10	14	---	---	---	---
ARRDC2	27106	broad.mit.edu	37	19	18121061	18121061	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:18121061C>T	ENST00000222250.4	+	6	1049	c.906C>T	c.(904-906)atC>atT	p.I302I	ARRDC2_ENST00000379656.3_Silent_p.I297I	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	302					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.I297I(1)|p.I302I(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CACTGGTGATCGGCACCATTC	0.652																																						uc002nhv.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(904-906)ATC>ATT		arrestin domain containing 2 isoform 1							68.0	67.0	67.0					19																	18121061		2203	4300	6503	SO:0001819	synonymous_variant	27106							g.chr19:18121061C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.906C>T	19.37:g.18121061C>T						ARRDC2_uc002nhu.2_Silent_p.I297I	p.I302I	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN			6	1049	+			302					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.906C>T	CCDS12370.1																																																																																				PASS	0.652	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		5	16	5	16	---	---	---	---
LSM4	25804	broad.mit.edu	37	19	18426871	18426871	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:18426871G>A	ENST00000593829.1	-	2	261	c.8C>T	c.(7-9)cCc>cTc	p.P3L	LSM4_ENST00000252816.6_Intron	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	3					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.P3L(1)		endometrium(1)|large_intestine(2)|lung(3)	6						CAGTGACAAGGGAAGCTGAAA	0.557																																						uc002niq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(7-9)CCC>CTC		U6 snRNA-associated Sm-like protein 4							98.0	83.0	88.0					19																	18426871		2203	4300	6503	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18426871G>A	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.8C>T	19.37:g.18426871G>A	ENSP00000469468:p.Pro3Leu						p.P3L	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN			2	179	-			3						Missense_Mutation	SNP	ENST00000593829.1	37	c.8C>T	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107716	0.77096	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.62	3.57	0.40892	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84451	0.0588	9	0.87932	D	0	-0.2805	13.6054	0.62044	0.0:0.0:0.843:0.157	.	3	Q9Y4Z0	LSM4_HUMAN	L	3	.	ENSP00000252816:P3L	P	-	2	0	LSM4	18287871	1.000000	0.71417	0.954000	0.39281	0.855000	0.48748	8.269000	0.89878	1.257000	0.44085	0.491000	0.48974	CCC		PASS	0.557	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			15	27	15	27	---	---	---	---
COMP	1311	broad.mit.edu	37	19	18895874	18895874	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:18895874G>A	ENST00000222271.2	-	16	1790	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	COMP_ENST00000542601.2_Silent_p.F549F|COMP_ENST00000425807.1_Silent_p.F529F	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	582	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.F582F(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACGTGCCCTCGAAGTCCACGC	0.587																																						uc002nke.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1744-1746)TTC>TTT		cartilage oligomeric matrix protein precursor							137.0	115.0	122.0					19																	18895874		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18895874G>A	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1746C>T	19.37:g.18895874G>A						COMP_uc002nkd.2_Silent_p.F549F|COMP_uc010xqj.1_Silent_p.F529F	p.F582F	NM_000095	NP_000086	P49747	COMP_HUMAN			16	1782	-			582			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.1746C>T	CCDS12385.1																																																																																				PASS	0.587	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		22	45	22	45	---	---	---	---
COMP	1311	broad.mit.edu	37	19	18899070	18899071	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:18899070_18899071CC>TT	ENST00000222271.2	-	9	969_970	c.925_926GG>AA	c.(925-927)GGa>AAa	p.G309K	COMP_ENST00000542601.2_Missense_Mutation_p.G276K|COMP_ENST00000425807.1_Missense_Mutation_p.G256K	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	309					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.G309R(1)|p.G309K(1)|p.G309E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCAGGCGTCTCCGATGCCATCG	0.624																																						uc002nke.2																			3	Substitution - Missense(3)		lung(3)		0	GRCh37	CM034028|CM984024	COMP	M		c.(925-927)GGA>GAA|c.(925-927)GGA>AGA		cartilage oligomeric matrix protein precursor																																				SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18899070C>T|g.chr19:18899071C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.925_926delinsTT	19.37:g.18899070_18899071delinsTT	ENSP00000222271:p.Gly309Lys					COMP_uc002nkd.2_Missense_Mutation_p.G276E|COMP_uc010xqj.1_Missense_Mutation_p.G256E|COMP_uc002nkd.2_Missense_Mutation_p.G276R|COMP_uc010xqj.1_Missense_Mutation_p.G256R	p.G309E|p.G309R	NM_000095	NP_000086	P49747	COMP_HUMAN			9	962|961	-			309			TSP type-3 2.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.926G>A|c.925G>A	CCDS12385.1																																																																																				PASS	0.624	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		5	12|11	5	11	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19627014	19627014	+	5'UTR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:19627014C>T	ENST00000507754.4	+	0	451				NDUFA13_ENST00000252576.5_Silent_p.F72F|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000585580.3_5'Flank|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.F72F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAAGTCACTTCCGCCCGGGAC	0.607																																						uc010xqy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(214-216)TTC>TTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						42.0	44.0	43.0					19																	19627014		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19627014C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.-34C>T	19.37:g.19627014C>T						TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Silent_p.F72F|NDUFA13_uc010xqx.1_Silent_p.F72F	p.F72F	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			1	475	+			Error:Variant_position_missing_in_Q9P0J0_after_alignment					B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37	c.216C>T	CCDS12404.2																																																																																				PASS	0.607	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		7	14	7	14	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654548	19654548	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:19654548G>A	ENST00000291495.5	+	8	1279	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	CILP2_ENST00000586018.1_Silent_p.E404E	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	398						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E398E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGCTCCCTGAGGACTGTGGTC	0.687																																						uc002nmv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1192-1194)GAG>GAA		cartilage intermediate layer protein 2							104.0	121.0	115.0					19																	19654548		2203	4300	6503	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654548G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1194G>A	19.37:g.19654548G>A						CILP2_uc002nmw.3_Silent_p.E404E	p.E398E	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1279	+			398					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.1194G>A	CCDS12405.1																																																																																				PASS	0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		26	49	26	49	---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19762519	19762519	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:19762519G>A	ENST00000357324.6	-	17	2340	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Silent_p.L654L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	772						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L772L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGGCTGCAGGATCAGCGTG	0.607																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(2314-2316)CTG>TTG		ATPase type 13A1							119.0	95.0	103.0					19																	19762519		2203	4300	6503	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19762519G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2314C>T	19.37:g.19762519G>A						ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Silent_p.L140L|ATP13A1_uc002nng.2_Silent_p.L654L	p.L772L	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			17	2342	-			772			Cytoplasmic (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.2314C>T	CCDS32970.2																																																																																				PASS	0.607	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		5	19	5	19	---	---	---	---
ZNF14	7561	broad.mit.edu	37	19	19823542	19823542	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:19823542G>A	ENST00000344099.3	-	4	686	c.548C>T	c.(547-549)cCa>cTa	p.P183L		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	183					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.P183L(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCTTTGAAATGGCTGGTAATA	0.378																																						uc002nnk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(547-549)CCA>CTA		zinc finger protein 14							90.0	91.0	91.0					19																	19823542		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823542G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.548C>T	19.37:g.19823542G>A	ENSP00000340514:p.Pro183Leu						p.P183L	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	702	-		Renal(1328;0.0474)	183			C2H2-type 3.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.548C>T	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	5.686	0.311046	0.10733	.	.	ENSG00000105708	ENST00000344099	T	0.59224	0.28	1.68	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19327	0.0464	N	0.00885	-1.115	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.15809	-1.0424	9	0.27785	T	0.31	.	3.9686	0.09443	0.0:0.2251:0.3225:0.4524	.	183	P17017	ZNF14_HUMAN	L	183	ENSP00000340514:P183L	ENSP00000340514:P183L	P	-	2	0	ZNF14	19684542	0.057000	0.20700	0.000000	0.03702	0.167000	0.22549	0.566000	0.23593	-0.606000	0.05746	0.467000	0.42956	CCA		PASS	0.378	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		8	30	8	30	---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117427	20117427	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:20117427T>G	ENST00000397165.2	-	4	1044	c.884A>C	c.(883-885)aAc>aCc	p.N295T	ZNF682_ENST00000397162.1_Missense_Mutation_p.N263T|ZNF682_ENST00000595736.1_Missense_Mutation_p.N219T|ZNF682_ENST00000597972.1_Missense_Mutation_p.N301T|ZNF682_ENST00000358523.5_Missense_Mutation_p.N263T|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	295					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.N295T(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGAGTGCCGGTTAAACGCTCT	0.408																																						uc002noq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(883-885)AAC>ACC		zinc finger protein 682 isoform 1							120.0	121.0	120.0					19																	20117427		2115	4254	6369	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117427T>G	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.884A>C	19.37:g.20117427T>G	ENSP00000380351:p.Asn295Thr					ZNF682_uc002noo.2_Missense_Mutation_p.N263T|ZNF682_uc002nop.2_Missense_Mutation_p.N263T|ZNF682_uc010eck.2_Missense_Mutation_p.N219T	p.N295T	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	1007	-			295			C2H2-type 5.		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.884A>C	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	T	1.966	-0.437754	0.04636	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.38722	3.19;1.12;1.12	1.09	-0.729	0.11158	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18341	0.0440	N	0.05487	-0.04	0.09310	N	1	B	0.24092	0.097	B	0.29353	0.101	T	0.26052	-1.0114	9	0.25751	T	0.34	.	1.695	0.02860	0.3079:0.0:0.3086:0.3835	.	295	O95780	ZN682_HUMAN	T	295;263;263	ENSP00000380351:N295T;ENSP00000380348:N263T;ENSP00000351324:N263T	ENSP00000351324:N263T	N	-	2	0	ZNF682	19978427	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-4.425000	0.00236	0.413000	0.25759	0.402000	0.26972	AAC		PASS	0.408	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		13	37	13	37	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807957	20807957	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:20807957G>A	ENST00000601440.1	-	4	872	c.726C>T	c.(724-726)tcC>tcT	p.S242S	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	242					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.S242S(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAGTAAGAGTGGAGGAGTGCT	0.393																																						uc002npb.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(724-726)TCC>TCT		zinc finger protein 626 isoform 1							55.0	59.0	58.0					19																	20807957		2195	4295	6490	SO:0001819	synonymous_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807957G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.726C>T	19.37:g.20807957G>A						ZNF626_uc002npc.1_Silent_p.S166S	p.S242S	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	876	-			242			C2H2-type 3.		Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	c.726C>T	CCDS42535.1																																																																																				PASS	0.393	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		10	54	10	54	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154265	22154265	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:22154265G>A	ENST00000397126.4	-	4	3719	c.3571C>T	c.(3571-3573)Cat>Tat	p.H1191Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H1063Y(2)|p.H1191Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(3187-3189)CAT>TAT		zinc finger protein 208							31.0	34.0	33.0					19																	22154265		2094	4236	6330	SO:0001583	missense	7757							g.chr19:22154265G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3571C>T	19.37:g.22154265G>A	ENSP00000380315:p.His1191Tyr					ZNF208_uc002nqo.1_Intron	p.H1063Y	NM_007153	NP_009084					6	3336	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3187C>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493814	0.26774	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67523	-0.27	3.24	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60676	0.2287	.	.	.	0.09310	N	0.999995	P	0.45011	0.848	B	0.43331	0.416	T	0.52373	-0.8584	8	0.87932	D	0	.	7.9286	0.29889	0.1931:0.0:0.8069:0.0	.	1063	O43345	ZN208_HUMAN	Y	1191;1063	ENSP00000380315:H1191Y	ENSP00000380315:H1191Y	H	-	1	0	ZNF208	21946105	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	6.828000	0.75308	0.128000	0.18479	0.196000	0.17591	CAT		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		12	31	12	31	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22170068	22170068	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:22170068C>T	ENST00000397126.4	-	3	324	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF208_ENST00000601773.1_Missense_Mutation_p.G59E|ZNF208_ENST00000599916.1_Missense_Mutation_p.G59E|ZNF208_ENST00000597040.1_Missense_Mutation_p.G27E	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G59E(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACTCTTTTCCTTCCTCCAG	0.413																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(175-177)GGA>GAA		zinc finger protein 208							80.0	82.0	81.0					19																	22170068		2195	4299	6494	SO:0001583	missense	7757							g.chr19:22170068C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.176G>A	19.37:g.22170068C>T	ENSP00000380315:p.Gly59Glu					ZNF208_uc002nqo.1_Missense_Mutation_p.G59E|ZNF208_uc002nqq.2_RNA	p.G59E	NM_007153	NP_009084					3	325	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.176G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.074	-1.196237	0.01594	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00892	5.57	0.207	-0.414	0.12359	Krueppel-associated box (3);	.	.	.	.	T	0.00552	0.0018	.	.	.	0.09310	N	1	P;B	0.37330	0.59;0.087	B;B	0.30251	0.113;0.062	T	0.46303	-0.9201	7	0.20519	T	0.43	.	.	.	.	.	59;59	O43345;F8WEA0	ZN208_HUMAN;.	E	59	ENSP00000380315:G59E	ENSP00000380315:G59E	G	-	2	0	ZNF208	21961908	0.083000	0.21467	0.009000	0.14445	0.009000	0.06853	0.646000	0.24797	-0.747000	0.04759	-0.734000	0.03567	GGA		PASS	0.413	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		22	33	22	33	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271130	22271130	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:22271130G>A	ENST00000594947.1	+	4	722	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R193K(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGACATAAGAGAATTCATATT	0.363																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)AGA>AAA		zinc finger protein 257							40.0	42.0	41.0					19																	22271130		2200	4296	6496	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271130G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.578G>A	19.37:g.22271130G>A	ENSP00000470209:p.Arg193Lys					ZNF257_uc010ecy.2_Missense_Mutation_p.R161K	p.R193K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	747	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	193			C2H2-type 1.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.578G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407180	0.11754	.	.	ENSG00000197134	ENST00000435820	.	.	.	1.11	-0.489	0.12052	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27697	0.0681	N	0.17278	0.47	0.22001	N	0.999423	B	0.17667	0.023	B	0.37239	0.244	T	0.43893	-0.9363	8	0.27785	T	0.31	.	3.9705	0.09451	0.1929:0.2445:0.5626:0.0	.	193	Q9Y2Q1	ZN257_HUMAN	K	193	.	ENSP00000406147:R193K	R	+	2	0	ZNF257	22062970	0.000000	0.05858	0.063000	0.19743	0.231000	0.25187	-2.897000	0.00706	-0.307000	0.08804	0.313000	0.20887	AGA		PASS	0.363	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			8	19	8	19	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31025885	31025885	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:31025885G>A	ENST00000355537.3	+	3	2449	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	768					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.V768M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCACCTTAAGGTGCACCTGAG	0.602																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2302-2304)GTG>ATG		zinc finger protein 536							89.0	86.0	87.0					19																	31025885		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025885G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2302G>A	19.37:g.31025885G>A	ENSP00000347730:p.Val768Met					ZNF536_uc010edd.1_Missense_Mutation_p.V768M	p.V768M	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	2440	+	Esophageal squamous(110;0.0834)		768			C2H2-type 8.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2302G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918588	0.73098	.	.	ENSG00000198597	ENST00000355537	T	0.07688	3.17	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125047	0.53938	D	0.000055	T	0.23926	0.0579	L	0.41906	1.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00102	-1.2062	10	0.51188	T	0.08	-41.2445	20.0912	0.97820	0.0:0.0:1.0:0.0	.	768;768	A7E228;O15090	.;ZN536_HUMAN	M	768	ENSP00000347730:V768M	ENSP00000347730:V768M	V	+	1	0	ZNF536	35717725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.746000	0.94184	0.591000	0.81541	GTG		PASS	0.602	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	45	11	45	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768608	31768608	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:31768608G>A	ENST00000240587.4	-	2	2418	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	697					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P697P(1)|p.P514P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGCTAGGGGCTTCACCA	0.627																																						uc002nsy.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2089-2091)CCC>CCT		zinc finger protein 537							49.0	49.0	49.0					19																	31768608		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768608G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2091C>T	19.37:g.31768608G>A							p.P697P	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2156	-	Esophageal squamous(110;0.226)		697					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2091C>T	CCDS12421.2																																																																																				PASS	0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	18	4	18	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768865	31768866	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:31768865_31768866CC>TT	ENST00000240587.4	-	2	2160_2161	c.1833_1834GG>AA	c.(1831-1836)gaGGag>gaAAag	p.E612K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	612					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E429K(2)|p.E612K(2)|p.E611E(1)|p.E428E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTCACCAGCTCCTCCATGGCAT	0.574																																						uc002nsy.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1834-1836)GAG>AAG|c.(1831-1833)GAG>GAA		zinc finger protein 537																																				SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768865C>T|g.chr19:31768866C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1833_1834delinsTT	19.37:g.31768865_31768866delinsTT	ENSP00000240587:p.Glu612Lys						p.E612K|p.E611E	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1899|1898	-	Esophageal squamous(110;0.226)		612|611			Potential.		Q9H0G6|Q9P254	Missense_Mutation|Silent	SNP	ENST00000240587.4	37	c.1834G>A|c.1833G>A	CCDS12421.2																																																																																				PASS	0.574	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		14	41	14	41	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31770097	31770097	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:31770097C>T	ENST00000240587.4	-	2	929	c.602G>A	c.(601-603)aGc>aAc	p.S201N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	201					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S201N(1)|p.S18N(1)|p.S18I(1)|p.S201I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATAGAGCTTGCTGCTCTGCCG	0.622																																						uc002nsy.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(601-603)AGC>AAC		zinc finger protein 537							65.0	61.0	62.0					19																	31770097		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770097C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.602G>A	19.37:g.31770097C>T	ENSP00000240587:p.Ser201Asn						p.S201N	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	667	-	Esophageal squamous(110;0.226)		201					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.602G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914251	0.33815	.	.	ENSG00000121297	ENST00000240587	T	0.12774	2.65	5.42	5.42	0.78866	.	0.162845	0.56097	D	0.000039	T	0.10937	0.0267	N	0.11201	0.11	0.48762	D	0.999705	P	0.42078	0.77	B	0.43508	0.422	T	0.33343	-0.9872	10	0.18710	T	0.47	-24.2671	19.2151	0.93774	0.0:1.0:0.0:0.0	.	201	Q63HK5	TSH3_HUMAN	N	201	ENSP00000240587:S201N	ENSP00000240587:S201N	S	-	2	0	TSHZ3	36461937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.885000	0.63142	2.509000	0.84616	0.655000	0.94253	AGC		PASS	0.622	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	30	6	30	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32899171	32899171	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:32899171C>T	ENST00000342179.5	+	2	227	c.12C>T	c.(10-12)atC>atT	p.I4I	DPY19L3_ENST00000586987.1_Silent_p.I4I|AC007773.2_ENST00000595727.1_RNA|AC007773.2_ENST00000592680.2_RNA|DPY19L3_ENST00000392250.2_Silent_p.I4I|DPY19L3_ENST00000587077.2_Silent_p.I4I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	4						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I4I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGATGTCCATCCGGCAAAGAA	0.428																																						uc002ntg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(10-12)ATC>ATT		dpy-19-like 3							78.0	77.0	78.0					19																	32899171		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32899171C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.12C>T	19.37:g.32899171C>T						DPY19L3_uc002ntf.2_Silent_p.I4I|DPY19L3_uc002nth.1_Silent_p.I4I	p.I4I	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			2	188	+	Esophageal squamous(110;0.162)		4					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.12C>T	CCDS12422.1																																																																																				PASS	0.428	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		20	42	20	42	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32949041	32949041	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:32949041T>C	ENST00000342179.5	+	11	1340	c.1125T>C	c.(1123-1125)ttT>ttC	p.F375F	DPY19L3_ENST00000586987.1_Silent_p.F375F|DPY19L3_ENST00000392250.2_Silent_p.F375F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	375						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F375F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACACATATTTAAATTTCTGA	0.348																																						uc002ntg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1123-1125)TTT>TTC		dpy-19-like 3							56.0	61.0	59.0					19																	32949041		2202	4300	6502	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32949041T>C		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1125T>C	19.37:g.32949041T>C						DPY19L3_uc002nth.1_Silent_p.F375F|DPY19L3_uc002nti.1_RNA	p.F375F	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			11	1301	+	Esophageal squamous(110;0.162)		375					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1125T>C	CCDS12422.1																																																																																				PASS	0.348	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		7	17	7	17	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34818434	34818434	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:34818434G>A	ENST00000299505.6	+	4	1687	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	272								p.E272K(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGCTAAAAGAACTGAACAT	0.408																																						uc002nvd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)GAA>AAA		hypothetical protein LOC9710							102.0	114.0	110.0					19																	34818434		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818434G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.814G>A	19.37:g.34818434G>A	ENSP00000299505:p.Glu272Lys						p.E272K	NM_014686	NP_055501	O15063	K0355_HUMAN			4	1673	+	Esophageal squamous(110;0.162)		272					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.814G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619419	0.96649	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.70644	-0.4815	9	0.87932	D	0	-9.4578	19.3067	0.94165	0.0:0.0:1.0:0.0	.	272	O15063	K0355_HUMAN	K	272	.	ENSP00000299505:E272K	E	+	1	0	KIAA0355	39510274	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.400000	0.97290	2.580000	0.87095	0.544000	0.68410	GAA		PASS	0.408	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		10	49	10	49	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34890524	34890524	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:34890524G>A	ENST00000356487.5	+	16	1703	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R	RP11-618P17.4_ENST00000606020.1_5'Flank|GPI_ENST00000415930.3_Missense_Mutation_p.G499R|GPI_ENST00000586425.1_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	488					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.G488R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ATTCATGCTTGGAGCCTTGGT	0.527																																						uc002nvg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1462-1464)GGA>AGA		glucose phosphate isomerase							155.0	155.0	155.0					19																	34890524		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34890524G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1462G>A	19.37:g.34890524G>A	ENSP00000348877:p.Gly488Arg					GPI_uc002nvf.2_Missense_Mutation_p.G527R|GPI_uc010xrv.1_Missense_Mutation_p.G499R|GPI_uc010xrw.1_Missense_Mutation_p.G460R|GPI_uc010edl.1_Intron|GPI_uc002nvi.1_Missense_Mutation_p.G151R	p.G488R	NM_000175	NP_000166	P06744	G6PI_HUMAN			16	1565	+	Esophageal squamous(110;0.162)		488					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1462G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248915	0.80024	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.99711	-6.49;-6.49	5.88	3.75	0.43078	.	0.047457	0.85682	N	0.000000	D	0.99764	0.9904	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97735	1.0205	10	0.87932	D	0	4.5597	11.613	0.51072	0.0668:0.1253:0.8079:0.0	.	460;499;488	B4DE36;B4DG39;P06744	.;.;G6PI_HUMAN	R	499;488	ENSP00000405573:G499R;ENSP00000348877:G488R	ENSP00000348877:G488R	G	+	1	0	GPI	39582364	1.000000	0.71417	0.911000	0.35937	0.832000	0.47134	9.826000	0.99387	0.822000	0.34565	-0.176000	0.13171	GGA		PASS	0.527	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			15	60	15	60	---	---	---	---
ZNF599	148103	broad.mit.edu	37	19	35251045	35251045	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:35251045G>A	ENST00000329285.8	-	4	1034	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	221					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.H221Y(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ACTCCAGCATGAATCTGTTGA	0.473																																						uc010edn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(661-663)CAT>TAT		zinc finger protein 599							191.0	186.0	188.0					19																	35251045		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251045G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.661C>T	19.37:g.35251045G>A	ENSP00000333802:p.His221Tyr					ZNF599_uc010edm.1_Missense_Mutation_p.H184Y	p.H221Y	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1049	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		221			C2H2-type 1.		Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.661C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.299016	0.60195	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.67523	-0.27	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82935	0.5145	M	0.92649	3.33	0.80722	D	1	D	0.61080	0.989	D	0.69479	0.964	D	0.85864	0.1412	9	0.87932	D	0	.	10.6	0.45360	0.0:0.0:1.0:0.0	.	221	Q96NL3	ZN599_HUMAN	Y	220;221;23	ENSP00000333802:H221Y	ENSP00000333802:H221Y	H	-	1	0	ZNF599	39942885	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.124000	0.57924	1.584000	0.49913	0.313000	0.20887	CAT		PASS	0.473	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		53	92	53	92	---	---	---	---
ZNF792	126375	broad.mit.edu	37	19	35449187	35449187	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:35449187G>A	ENST00000404801.1	-	4	1958	c.1572C>T	c.(1570-1572)caC>caT	p.H524H	ZNF792_ENST00000605484.1_Silent_p.H457H	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	524					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.H524H(1)|p.H445H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAGTCTCCGGTGGTTATTGA	0.522																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1570-1572)CAC>CAT		zinc finger protein 792							52.0	48.0	50.0					19																	35449187		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449187G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1572C>T	19.37:g.35449187G>A							p.H524H	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1959	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		524			C2H2-type 11.		B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1572C>T	CCDS12440.2																																																																																				PASS	0.522	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		5	23	5	23	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35804284	35804284	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:35804284G>A	ENST00000392213.3	+	11	1967	c.1808G>A	c.(1807-1809)gGg>gAg	p.G603E	MAG_ENST00000537831.2_Missense_Mutation_p.G578E|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	603					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.G603E(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCGGACCTGGGGAAACGGCCC	0.632																																						uc002nyy.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1807-1809)GGG>GAG		myelin associated glycoprotein isoform a							87.0	76.0	80.0					19																	35804284		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804284G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1808G>A	19.37:g.35804284G>A	ENSP00000376048:p.Gly603Glu					MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Missense_Mutation_p.G578E|MAG_uc002nyz.1_Missense_Mutation_p.G603E	p.G603E	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1957	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	603			Cytoplasmic (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1808G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548098	0.45383	.	.	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	T;T	0.64803	-0.12;-0.04	4.7	3.65	0.41850	.	0.294187	0.32608	N	0.005875	T	0.56934	0.2019	N	0.14661	0.345	0.30336	N	0.786153	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.994	T	0.52056	-0.8626	10	0.07482	T	0.82	.	10.2475	0.43350	0.0:0.0:0.8033:0.1967	.	640;603	Q59GD9;P20916	.;MAG_HUMAN	E	640;603;578	ENSP00000376048:G603E;ENSP00000440695:G578E	ENSP00000262624:G640E	G	+	2	0	MAG	40496124	0.997000	0.39634	0.936000	0.37596	0.911000	0.54048	3.201000	0.51059	1.185000	0.42971	0.561000	0.74099	GGG		PASS	0.632	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		17	27	17	27	---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35850282	35850282	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:35850282G>A	ENST00000327809.4	+	2	691	c.490G>A	c.(490-492)Ggc>Agc	p.G164S	FFAR3_ENST00000594310.1_Missense_Mutation_p.G164S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	164					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.G164S(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCACAGCCAGGGCACCAATGG	0.617																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GGC>AGC		free fatty acid receptor 3							60.0	47.0	51.0					19																	35850282		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850282G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.490G>A	19.37:g.35850282G>A	ENSP00000328230:p.Gly164Ser					FFAR3_uc010xsu.1_Intron	p.G164S	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	565	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		164			Extracellular (Potential).		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.490G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.086080	0.00371	.	.	ENSG00000185897	ENST00000327809	T	0.71103	-0.54	4.51	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	1.281710	0.05197	N	0.504216	T	0.49457	0.1558	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22871	-1.0204	10	0.07482	T	0.82	-0.6182	1.1179	0.01718	0.3079:0.1163:0.3673:0.2085	.	164	O14843	FFAR3_HUMAN	S	164	ENSP00000328230:G164S	ENSP00000328230:G164S	G	+	1	0	FFAR3	40542122	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.084000	0.14891	-0.150000	0.11195	-1.644000	0.00765	GGC		PASS	0.617	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		9	29	9	29	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35941492	35941492	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:35941492G>A	ENST00000599180.2	+	2	956	c.876G>A	c.(874-876)cgG>cgA	p.R292R	FFAR2_ENST00000246549.2_Silent_p.R292R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	292					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R292R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			AGGTGCTGCGGAATCAGGGCT	0.577																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(874-876)CGG>CGA		free fatty acid receptor 2							89.0	88.0	89.0					19																	35941492		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941492G>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.876G>A	19.37:g.35941492G>A						FFAR2_uc010eea.2_Silent_p.R292R	p.R292R	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	956	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		292			Cytoplasmic (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.876G>A	CCDS12461.1																																																																																				PASS	0.577	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		15	45	15	45	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36051371	36051372	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:36051371_36051372GG>AA	ENST00000262623.3	-	6	708_709	c.680_681CC>TT	c.(679-681)tCC>tTT	p.S227F		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	227					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.S227F(2)|p.S227S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CTGTCAGCGAGGAGTTGTCCAC	0.649																																						uc002oal.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(679-681)TCC>TCT|c.(679-681)TCC>TTC		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051371G>A|g.chr19:36051372G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.680_681delinsAA	19.37:g.36051371_36051372delinsAA	ENSP00000262623:p.Ser227Phe					ATP4A_uc010eee.1_5'Flank	p.S227S|p.S227F	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	710|709	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		227			Cytoplasmic (Potential).		O00738	Silent|Missense_Mutation	SNP	ENST00000262623.3	37	c.681C>T|c.680C>T	CCDS12467.1																																																																																				PASS	0.649	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		15	21	15	21	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36278103	36278103	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:36278103C>T	ENST00000007510.4	+	21	2780	c.2636C>T	c.(2635-2637)cCc>cTc	p.P879L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P718L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P743L|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	879	Poly-Pro.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)	p.P718L(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCACCCCCTCCCCTGTCTCTC	0.667																																						uc002obs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(2152-2154)CCC>CTC		sorting nexin 26							25.0	33.0	30.0					19																	36278103		2118	4172	6290	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278103C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2636C>T	19.37:g.36278103C>T	ENSP00000007510:p.Pro879Leu					ARHGAP33_uc002obt.1_Missense_Mutation_p.P743L|ARHGAP33_uc010eel.2_Missense_Mutation_p.P467L|ARHGAP33_uc002obv.1_Missense_Mutation_p.P467L	p.P718L	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	2238	+			766					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.2153C>T		.	.	.	.	.	.	.	.	.	.	C	11.17	1.560850	0.27827	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12569	3.06;2.67;3.12	4.79	4.79	0.61399	.	0.438745	0.19636	N	0.109559	T	0.15219	0.0367	L	0.55481	1.735	0.28477	N	0.915129	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.06075	-1.0847	10	0.72032	D	0.01	.	10.9869	0.47526	0.0:0.907:0.0:0.093	.	879;743;718	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	L	879;718;743	ENSP00000007510:P879L;ENSP00000320038:P718L;ENSP00000368227:P743L	ENSP00000007510:P879L	P	+	2	0	ARHGAP33	40969943	0.000000	0.05858	0.962000	0.40283	0.165000	0.22458	0.611000	0.24268	2.184000	0.69523	0.563000	0.77884	CCC		PASS	0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		14	16	14	16	---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36302948	36302948	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:36302948C>T	ENST00000301175.3	-	5	758	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	247					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.K247K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGCTAGCTCCTTCTGAAATG	0.642																																						uc002obx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(739-741)AAG>AAA		kidney and liver proline oxidase 1							48.0	48.0	48.0					19																	36302948		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36302948C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.741G>A	19.37:g.36302948C>T							p.K247K	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	759	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		247						Silent	SNP	ENST00000301175.3	37	c.741G>A	CCDS12478.1																																																																																				PASS	0.642	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		4	16	4	16	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351482	36351482	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:36351482G>A	ENST00000360202.5	+	7	1039	c.841G>A	c.(841-843)Gac>Aac	p.D281N	KIRREL2_ENST00000262625.7_Missense_Mutation_p.D281N|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.D231N|KIRREL2_ENST00000592409.1_Missense_Mutation_p.D281N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	281	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.D281N(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTCGTGGCAGACGCCTCGTT	0.657																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(841-843)GAC>AAC		kin of IRRE-like 2 isoform c							58.0	63.0	61.0					19																	36351482		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351482G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.841G>A	19.37:g.36351482G>A	ENSP00000353331:p.Asp281Asn					KIRREL2_uc002obz.3_Missense_Mutation_p.D281N|KIRREL2_uc002oca.3_Missense_Mutation_p.D231N|KIRREL2_uc002occ.3_Missense_Mutation_p.D228N|KIRREL2_uc002ocd.3_Missense_Mutation_p.D278N	p.D281N	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1053	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		281			Ig-like C2-type 3.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.841G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	34	5.370696	0.95900	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.15017	2.46;2.46;2.46	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000558	T	0.34716	0.0907	L	0.56340	1.77	0.43133	D	0.99487	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;0.998	D;D;D;D;D	0.85130	0.995;0.992;0.997;0.995;0.995	T	0.08027	-1.0742	10	0.72032	D	0.01	-20.1154	11.8642	0.52484	0.0:0.0:1.0:0.0	.	281;261;281;231;281	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	N	281;231;281;261	ENSP00000262625:D281N;ENSP00000345067:D231N;ENSP00000353331:D281N	ENSP00000262625:D281N	D	+	1	0	KIRREL2	41043322	1.000000	0.71417	0.984000	0.44739	0.975000	0.68041	8.532000	0.90613	2.257000	0.74773	0.444000	0.29173	GAC		PASS	0.657	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		9	29	9	29	---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36884093	36884093	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:36884093G>A	ENST00000392161.3	-	5	1391	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	ZFP82_ENST00000392171.1_Silent_p.L383L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	383					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.L383L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTGTGATGGAGAATAAGAT	0.383																																						uc002ody.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1147-1149)CTC>CTT		zinc finger protein 82 homolog							114.0	113.0	113.0					19																	36884093		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884093G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1149C>T	19.37:g.36884093G>A							p.L383L	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1384	-			383			C2H2-type 8.		Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.1149C>T	CCDS12493.1																																																																																				PASS	0.383	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		18	56	18	56	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210388	37210388	+	Silent	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:37210388A>T	ENST00000536254.2	+	6	984	c.762A>T	c.(760-762)acA>acT	p.T254T	ZNF567_ENST00000585696.1_Silent_p.T223T|ZNF567_ENST00000360729.4_Silent_p.T223T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.T223T|ZNF567_ENST00000392163.2_Silent_p.T223T			Q8N184	ZN567_HUMAN	zinc finger protein 567	254					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.T223T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAAACATACATGCAATGAAT	0.353																																						uc010xtl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(760-762)ACA>ACT		zinc finger protein 567							29.0	31.0	30.0					19																	37210388		2200	4292	6492	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210388A>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.762A>T	19.37:g.37210388A>T						ZNF567_uc002oeo.1_Silent_p.T254T|ZNF567_uc010xtk.1_Silent_p.T254T|ZNF567_uc002oep.3_Silent_p.T223T|ZNF567_uc002oeq.1_Silent_p.T223T	p.T254T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	984	+	Esophageal squamous(110;0.198)		254			C2H2-type 2.		B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.762A>T																																																																																					PASS	0.353	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		12	16	12	16	---	---	---	---
ZNF829	374899	broad.mit.edu	37	19	37399311	37399311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:37399311C>T	ENST00000391711.3	-	4	511	c.147G>A	c.(145-147)tgG>tgA	p.W49*	ZNF829_ENST00000520965.1_Nonsense_Mutation_p.W130*|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.W49*(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGGCATTCCCATTCCTCTT	0.413																																						uc002ofa.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(145-147)TGG>TGA		zinc finger protein 829							116.0	115.0	115.0					19																	37399311		2149	4281	6430	SO:0001587	stop_gained	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37399311C>T	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.147G>A	19.37:g.37399311C>T	ENSP00000429266:p.Trp49*					ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Nonsense_Mutation_p.W49*	p.W49*	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	509	-	Esophageal squamous(110;0.183)		49			KRAB.		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	ENST00000391711.3	37	c.147G>A	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	37	6.374898	0.97515	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8102	0.57635	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000429266:W49X	W	-	3	0	ZNF829	42091151	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.387000	0.44389	2.474000	0.83562	0.591000	0.81541	TGG		PASS	0.413	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		17	64	17	64	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160681	38160681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:38160681C>T	ENST00000590008.1	-	5	1221	c.369G>A	c.(367-369)tgG>tgA	p.W123*	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Nonsense_Mutation_p.W123*			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	123					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.W123*(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CAAAGGCCTTCCAACATTGCT	0.378																																						uc002ogy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(367-369)TGG>TGA		zinc finger protein 781							128.0	127.0	128.0					19																	38160681		2203	4300	6503	SO:0001587	stop_gained	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160681C>T	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.369G>A	19.37:g.38160681C>T	ENSP00000466370:p.Trp123*					ZNF781_uc002ogz.2_Nonsense_Mutation_p.W118*	p.W123*	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1111	-			123			C2H2-type 4; degenerate.		Q2VPJ8	Nonsense_Mutation	SNP	ENST00000590008.1	37	c.369G>A	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	38	6.755476	0.97813	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	.	.	.	2.23	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.4195	0.38541	0.0:0.7777:0.2222:0.0	.	.	.	.	X	123	.	ENSP00000351391:W123X	W	-	3	0	ZNF781	42852521	0.593000	0.26840	0.125000	0.21846	0.030000	0.12068	-0.254000	0.08781	0.220000	0.20860	-0.385000	0.06624	TGG		PASS	0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		19	30	19	30	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38896178	38896178	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:38896178C>T	ENST00000252530.5	+	6	672	c.653C>T	c.(652-654)tCc>tTc	p.S218F	FAM98C_ENST00000343358.7_Missense_Mutation_p.S192F|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	218								p.S218F(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGTCTCTGTCCCAAAGCCTC	0.577																																						uc002oin.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)TCC>TTC		hypothetical protein LOC147965							76.0	82.0	80.0					19																	38896178		2187	4287	6474	SO:0001583	missense	147965							g.chr19:38896178C>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.653C>T	19.37:g.38896178C>T	ENSP00000252530:p.Ser218Phe					FAM98C_uc002oio.1_Missense_Mutation_p.S192F|FAM98C_uc010xtz.1_Intron	p.S218F	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	672	+	all_cancers(60;3.95e-06)		218					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.653C>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351671	0.61183	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.44083	0.93;0.93	4.84	-3.87	0.04218	.	0.382752	0.19068	N	0.123566	T	0.44074	0.1276	M	0.65975	2.015	0.09310	N	1	D;P	0.54601	0.967;0.939	P;P	0.55455	0.62;0.776	T	0.36792	-0.9733	10	0.72032	D	0.01	-5.9588	3.4287	0.07420	0.2348:0.4226:0.2567:0.0859	.	192;218	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	F	218;192	ENSP00000252530:S218F;ENSP00000340348:S192F	ENSP00000252530:S218F	S	+	2	0	FAM98C	43588018	0.003000	0.15002	0.482000	0.27366	0.990000	0.78478	0.203000	0.17315	-0.461000	0.06993	0.558000	0.71614	TCC		PASS	0.577	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		8	51	8	51	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38937382	38937382	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:38937382C>T	ENST00000359596.3	+	9	774	c.774C>T	c.(772-774)ctC>ctT	p.L258L	RYR1_ENST00000360985.3_Silent_p.L258L|RYR1_ENST00000355481.4_Silent_p.L258L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	258	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L258L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGCTCCCTCTGGAGGCTGG	0.602																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(772-774)CTC>CTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						41.0	42.0	41.0					19																	38937382		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937382C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.774C>T	19.37:g.38937382C>T						RYR1_uc002oiu.2_Silent_p.L258L	p.L258L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	904	+	all_cancers(60;7.91e-06)		258			MIR 3.|Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.774C>T	CCDS33011.1																																																																																				PASS	0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	15	5	15	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38990384	38990384	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:38990384C>T	ENST00000359596.3	+	44	7137	c.7137C>T	c.(7135-7137)gcC>gcT	p.A2379A	RYR1_ENST00000360985.3_Silent_p.A2379A|RYR1_ENST00000355481.4_Silent_p.A2379A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2379	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.A2379A(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCTGGCTGCCATCGAAGAGG	0.697																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7135-7137)GCC>GCT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						30.0	27.0	28.0					19																	38990384		2202	4298	6500	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990384C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7137C>T	19.37:g.38990384C>T						RYR1_uc002oiu.2_Silent_p.A2379A|RYR1_uc002oiv.1_5'UTR	p.A2379A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7267	+	all_cancers(60;7.91e-06)		2379			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7137C>T	CCDS33011.1																																																																																				PASS	0.697	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			3	4	3	4	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39076791	39076791	+	Missense_Mutation	SNP	G	G	A	rs200777598		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39076791G>A	ENST00000359596.3	+	104	14929	c.14929G>A	c.(14929-14931)Gag>Aag	p.E4977K	RYR1_ENST00000360985.3_Missense_Mutation_p.E4972K|RYR1_ENST00000355481.4_Missense_Mutation_p.E4972K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4977					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E4977K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCATGGCTTCGAGACTCACAC	0.557																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14929-14931)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						95.0	72.0	80.0					19																	39076791		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39076791G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14929G>A	19.37:g.39076791G>A	ENSP00000352608:p.Glu4977Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E4972K	p.E4977K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		104	15059	+	all_cancers(60;7.91e-06)		4977					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14929G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161487	0.38119	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97138	-4.26;-4.26;-4.26	4.21	4.21	0.49690	.	0.000000	0.64402	U	0.000002	D	0.98216	0.9410	M	0.77103	2.36	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	D	0.99376	1.0921	10	0.87932	D	0	.	16.4036	0.83650	0.0:0.0:1.0:0.0	.	4972;4977	P21817-2;P21817	.;RYR1_HUMAN	K	4977;4972;4972	ENSP00000352608:E4977K;ENSP00000347667:E4972K;ENSP00000354254:E4972K	ENSP00000347667:E4972K	E	+	1	0	RYR1	43768631	1.000000	0.71417	0.969000	0.41365	0.224000	0.24922	9.453000	0.97619	2.187000	0.69744	0.650000	0.86243	GAG		PASS	0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	17	7	17	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39196706	39196707	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39196706_39196707CC>TT	ENST00000252699.2	+	5	583_584	c.507_508CC>TT	c.(505-510)ctCCtt>ctTTtt	p.L170F	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	170	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L170F(2)|p.L169L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGAAGGGCTCCTTCTCTGGTG	0.51																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(505-507)CTC>CTT|c.(508-510)CTT>TTT		actinin, alpha 4																																				SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39196706C>T|g.chr19:39196707C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	Exception_encountered	19.37:g.39196706_39196707delinsTT	ENSP00000252699:p.Leu170Phe					ACTN4_uc010egc.1_Silent_p.L169L|ACTN4_uc010egc.1_Missense_Mutation_p.L170F	p.L169L|p.L170F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		5	566|567	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		169|170			Actin-binding.|CH 2.		A4K467|D6PXK4|O76048	Silent|Missense_Mutation	SNP	ENST00000252699.2	37	c.507C>T|c.508C>T	CCDS12518.1																																																																																				PASS	0.510	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			4	23|24	4	23	---	---	---	---
LGALS4	3960	broad.mit.edu	37	19	39292471	39292471	+	Missense_Mutation	SNP	G	G	A	rs199814280		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39292471G>A	ENST00000307751.4	-	10	1382	c.905C>T	c.(904-906)tCg>tTg	p.S302L		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	302	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S302L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGGAAGGCCGAGAGGCGATG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20315	0.001		0.0	False		,,,				2504	0.0					uc002ojg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(904-906)TCG>TTG		galectin-4							88.0	75.0	80.0					19																	39292471		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292471G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.905C>T	19.37:g.39292471G>A	ENSP00000302100:p.Ser302Leu						p.S302L	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1119	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		302			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.905C>T	CCDS12521.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.702	-0.061284	0.07317	.	.	ENSG00000171747	ENST00000307751	T	0.12465	2.68	5.14	-1.23	0.09465	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	2.135830	0.02087	N	0.052815	T	0.13670	0.0331	L	0.45228	1.405	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.32851	-0.9891	10	0.41790	T	0.15	2.7426	7.1088	0.25378	0.1445:0.0:0.5149:0.3406	.	302	P56470	LEG4_HUMAN	L	302	ENSP00000302100:S302L	ENSP00000302100:S302L	S	-	2	0	LGALS4	43984311	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.532000	0.06164	-0.364000	0.08088	-1.247000	0.01520	TCG		PASS	0.532	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		19	54	19	54	---	---	---	---
LGALS4	3960	broad.mit.edu	37	19	39292733	39292733	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39292733C>T	ENST00000307751.4	-	9	1201	c.724G>A	c.(724-726)Ggc>Agc	p.G242S		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	242	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G242S(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GTACCGTTGCCCATGCGGGGA	0.557																																						uc002ojg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(724-726)GGC>AGC		galectin-4							67.0	60.0	63.0					19																	39292733		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292733C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.724G>A	19.37:g.39292733C>T	ENSP00000302100:p.Gly242Ser						p.G242S	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	938	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		242			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.724G>A	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	4.855	0.158862	0.09236	.	.	ENSG00000171747	ENST00000307751	T	0.12039	2.72	4.89	-9.78	0.00496	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	2.785380	0.00977	N	0.003332	T	0.04907	0.0132	N	0.05414	-0.055	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.29971	-0.9994	10	0.35671	T	0.21	6.8314	1.4785	0.02431	0.1658:0.3351:0.2122:0.2868	.	242	P56470	LEG4_HUMAN	S	242	ENSP00000302100:G242S	ENSP00000302100:G242S	G	-	1	0	LGALS4	43984573	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-2.590000	0.00899	-1.150000	0.02840	-0.194000	0.12790	GGC		PASS	0.557	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		8	27	8	27	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330769	39330769	+	Silent	SNP	G	G	A	rs267605470		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39330769G>A	ENST00000221419.5	-	8	1566	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	AC104534.3_ENST00000594769.1_Missense_Mutation_p.S17L|HNRNPL_ENST00000600873.1_Silent_p.F267F	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	400	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.F267F(1)|p.F400F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGAAGACATTGAAGACTCGGT	0.577																																						uc010xul.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1198-1200)TTC>TTT		heterogeneous nuclear ribonucleoprotein L							48.0	52.0	51.0					19																	39330769		2185	4269	6454	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330769G>A	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1200C>T	19.37:g.39330769G>A						HNRNPL_uc010ege.1_Silent_p.F56F|HNRNPL_uc002ojj.1_Silent_p.F56F|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.F56F|HNRNPL_uc002ojl.2_Silent_p.F56F|HNRNPL_uc010xum.1_Silent_p.F267F|HNRNPL_uc002ojp.1_Silent_p.F56F|HNRNPL_uc010xun.1_3'UTR	p.F400F	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1211	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		400			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1200C>T	CCDS33015.1																																																																																				PASS	0.577	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			11	34	11	34	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330771	39330771	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:39330771A>G	ENST00000221419.5	-	8	1564	c.1198T>C	c.(1198-1200)Ttc>Ctc	p.F400L	AC104534.3_ENST00000594769.1_Silent_p.S16S|HNRNPL_ENST00000600873.1_Missense_Mutation_p.F267L	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	400	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.F267L(1)|p.F400L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AAGACATTGAAGACTCGGTCA	0.582																																						uc010xul.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1198-1200)TTC>CTC		heterogeneous nuclear ribonucleoprotein L							47.0	51.0	50.0					19																	39330771		2185	4271	6456	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330771A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1198T>C	19.37:g.39330771A>G	ENSP00000221419:p.Phe400Leu					HNRNPL_uc010ege.1_Missense_Mutation_p.F56L|HNRNPL_uc002ojj.1_Missense_Mutation_p.F56L|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Missense_Mutation_p.F56L|HNRNPL_uc002ojl.2_Missense_Mutation_p.F56L|HNRNPL_uc010xum.1_Missense_Mutation_p.F267L|HNRNPL_uc002ojp.1_Missense_Mutation_p.F56L|HNRNPL_uc010xun.1_3'UTR	p.F400L	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1209	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		400			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1198T>C	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057917	0.93846	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.39787	1.06	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.92122	3.275	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.964	D;D;P	0.78314	0.986;0.991;0.527	T	0.79960	-0.1583	10	0.87932	D	0	.	14.9915	0.71393	1.0:0.0:0.0:0.0	.	400;267;383	P14866;A6NIT8;Q6NTA2	HNRPL_HUMAN;.;.	L	400;267;267	ENSP00000221419:F400L	ENSP00000221419:F400L	F	-	1	0	HNRNPL	44022611	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.918000	0.92759	2.188000	0.69820	0.454000	0.30748	TTC		PASS	0.582	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			11	30	11	30	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40362803	40362803	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:40362803G>A	ENST00000221347.6	-	32	15274	c.15267C>T	c.(15265-15267)ttC>ttT	p.F5089F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5089						extracellular vesicular exosome (GO:0070062)		p.F5089F(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCGGCACAGGAAGGCTTTGT	0.657																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15265-15267)TTC>TTT		Fc fragment of IgG binding protein precursor							85.0	86.0	86.0					19																	40362803		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362803G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15267C>T	19.37:g.40362803G>A							p.F5089F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15275	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5089					O95784	Silent	SNP	ENST00000221347.6	37	c.15267C>T	CCDS12546.1																																																																																				PASS	0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		15	68	15	68	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433636	40433636	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:40433636C>T	ENST00000221347.6	-	2	640	c.633G>A	c.(631-633)ggG>ggA	p.G211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	211	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.G211G(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGACCTTTGACCCCGAGAGAT	0.547																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(631-633)GGG>GGA		Fc fragment of IgG binding protein precursor							73.0	72.0	73.0					19																	40433636		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433636C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.633G>A	19.37:g.40433636C>T							p.G211G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	641	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		211			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.633G>A	CCDS12546.1																																																																																				PASS	0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	24	13	24	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581066	40581066	+	Missense_Mutation	SNP	C	C	T	rs144919039	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:40581066C>T	ENST00000595687.2	-	6	1492	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.R429H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R429H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R394H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R428H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	428					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.R394H(1)|p.R429H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGTGCACCACGATTAAAGCC	0.383													c|||	5	0.000998403	0.0	0.0	5008	,	,		23757	0.0		0.005	False		,,,				2504	0.0					uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1282-1284)CGT>CAT		zinc finger protein 780A isoform b		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	195.0	192.0	193.0		1283,1286,1283,	-3.9	0.0	19	dbSNP_134	193	6,8590	5.0+/-18.6	0,6,4292	no	missense,missense,missense,intron	ZNF780A	NM_001010880.2,NM_001142577.1,NM_001142578.1,NM_001142579.1	29,29,29,	0,6,6495	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging,probably-damaging,	428/642,429/643,428/642,	40581066	6,12996	2203	4298	6501	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581066C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1283G>A	19.37:g.40581066C>T	ENSP00000472189:p.Arg428His					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.R428H|ZNF780A_uc010xvh.1_Missense_Mutation_p.R429H	p.R428H	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1508	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		428			C2H2-type 10.		E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1283G>A	CCDS33026.2	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	c	6.497	0.459872	0.12342	0.0	6.98E-4	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.22539	1.95;1.95	1.93	-3.86	0.04230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	L	0.33485	1.01	0.09310	N	1	D;D	0.89917	1.0;0.965	D;B	0.72625	0.978;0.252	T	0.15321	-1.0441	9	0.13853	T	0.58	.	2.8017	0.05416	0.4157:0.1875:0.0:0.3969	.	429;428	E9PB48;O75290	.;Z780A_HUMAN	H	428;429;428	ENSP00000400997:R429H;ENSP00000341507:R428H	ENSP00000341507:R428H	R	-	2	0	ZNF780A	45272906	0.002000	0.14202	0.001000	0.08648	0.396000	0.30629	-0.022000	0.12480	-0.735000	0.04837	0.313000	0.20887	CGT		PASS	0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		32	128	32	128	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40828027	40828028	+	Missense_Mutation	DNP	GG	GG	AA	rs377039602		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:40828027_40828028GG>AA	ENST00000582783.1	-	9	1042_1043	c.1030_1031CC>TT	c.(1030-1032)CCg>TTg	p.P344L	C19orf47_ENST00000392035.2_Missense_Mutation_p.P277L|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	344						nucleus (GO:0005634)		p.P277L(2)|p.P344L(2)|p.P344S(1)|p.P277S(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CAAGGACTCCGGCTTCCTCTCA	0.614																																						uc002oni.3																			6	Substitution - Missense(6)		lung(6)	ovary(1)|skin(1)	2						c.(1030-1032)CCG>CTG|c.(1030-1032)CCG>TCG		hypothetical protein LOC126526																																				SO:0001583	missense	126526							g.chr19:40828027G>A|g.chr19:40828028G>A	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1030_1031delinsAA	19.37:g.40828027_40828028delinsAA	ENSP00000463159:p.Pro344Leu					C19orf47_uc002ong.2_Missense_Mutation_p.P203L|C19orf47_uc002onh.2_Missense_Mutation_p.P277L|C19orf47_uc002ong.2_Missense_Mutation_p.P203S|C19orf47_uc002onh.2_Missense_Mutation_p.P277S	p.P344L|p.P344S	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		9	1032|1031	-			344					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.1031C>T|c.1030C>T	CCDS58662.1																																																																																				PASS	0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		5	26	5	26	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41510013	41510013	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:41510013G>C	ENST00000324071.4	+	2	286	c.279G>C	c.(277-279)gaG>gaC	p.E93D	CYP2B6_ENST00000330446.5_Missense_Mutation_p.E53D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E17D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	93					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.E93D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACAAGGCTGAGGCCTTCTCTG	0.617																																						uc002opr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(277-279)GAG>GAC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						86.0	86.0	86.0					19																	41510013		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41510013G>C	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.279G>C	19.37:g.41510013G>C	ENSP00000324648:p.Glu93Asp					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E53D	p.E93D	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	286	+			93					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.279G>C	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	12.65	2.000270	0.35320	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.70282	-0.47;-0.47	4.15	-2.92	0.05615	.	0.246079	0.39687	N	0.001281	T	0.50120	0.1597	L	0.37850	1.14	0.09310	N	0.999998	B;B	0.28208	0.0;0.203	B;B	0.31290	0.006;0.127	T	0.33803	-0.9854	10	0.25106	T	0.35	.	3.4	0.07320	0.2722:0.0:0.286:0.4419	.	53;93	B4DWP3;P20813	.;CP2B6_HUMAN	D	93;53	ENSP00000324648:E93D;ENSP00000330650:E53D	ENSP00000324648:E93D	E	+	3	2	CYP2B6	46201853	0.002000	0.14202	0.009000	0.14445	0.285000	0.27093	-0.625000	0.05534	-0.584000	0.05913	0.472000	0.43445	GAG		PASS	0.617	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		9	47	9	47	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41515196	41515196	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:41515196G>A	ENST00000324071.4	+	5	725	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	240					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.E240K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AAACCTGCAGGAAATCAATGC	0.517																																						uc002opr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(718-720)GAA>AAA		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						102.0	101.0	102.0					19																	41515196		2202	4300	6502	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515196G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.718G>A	19.37:g.41515196G>A	ENSP00000324648:p.Glu240Lys					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.E240K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	725	+			240					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.718G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	9.165	1.019775	0.19355	.	.	ENSG00000197408	ENST00000324071	T	0.01304	5.03	4.51	3.41	0.39046	.	1.063310	0.07280	N	0.870610	T	0.01254	0.0041	N	0.25789	0.76	0.18873	N	0.999986	B	0.31485	0.325	B	0.28305	0.088	T	0.43956	-0.9359	10	0.15952	T	0.53	.	5.6636	0.17682	0.1107:0.2174:0.6718:0.0	.	240	P20813	CP2B6_HUMAN	K	240	ENSP00000324648:E240K	ENSP00000324648:E240K	E	+	1	0	CYP2B6	46207036	0.000000	0.05858	0.015000	0.15790	0.025000	0.11179	0.122000	0.15687	2.338000	0.79540	0.313000	0.20887	GAA		PASS	0.517	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		16	73	16	73	---	---	---	---
CEACAM7	1087	broad.mit.edu	37	19	42187819	42187819	+	Silent	SNP	G	G	A	rs199809426		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42187819G>A	ENST00000006724.3	-	3	804	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CEACAM7_ENST00000401731.1_Silent_p.L201L|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	201	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L201L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGAGTAGAACGAGGGTCCTGT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18863	0.0		0.0	False		,,,				2504	0.0					uc002ori.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(601-603)CTC>CTT		carcinoembryonic antigen-related cell adhesion							173.0	163.0	166.0					19																	42187819		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187819G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.603C>T	19.37:g.42187819G>A						CEACAM7_uc010ehx.2_Silent_p.L201L|CEACAM7_uc010ehy.1_Intron	p.L201L	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	605	-			201			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.603C>T	CCDS12583.1																																																																																				PASS	0.537	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		31	85	31	85	---	---	---	---
CEACAM7	1087	broad.mit.edu	37	19	42191133	42191133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42191133C>T	ENST00000006724.3	-	2	285	c.84G>A	c.(82-84)tgG>tgA	p.W28*	CEACAM7_ENST00000401731.1_Nonsense_Mutation_p.W28*|CEACAM7_ENST00000602225.1_Nonsense_Mutation_p.W28*|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Nonsense_Mutation_p.W28*	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	28						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W28*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTGGCAGGTTCCAGAAGGTTA	0.507																																						uc002ori.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(82-84)TGG>TGA		carcinoembryonic antigen-related cell adhesion							87.0	86.0	87.0					19																	42191133		2203	4300	6503	SO:0001587	stop_gained	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42191133C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.84G>A	19.37:g.42191133C>T	ENSP00000006724:p.Trp28*					CEACAM7_uc010ehx.2_Nonsense_Mutation_p.W28*|CEACAM7_uc010ehy.1_Nonsense_Mutation_p.W28*	p.W28*	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	86	-			28					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Nonsense_Mutation	SNP	ENST00000006724.3	37	c.84G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	c	15.26	2.780795	0.49891	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	.	.	.	1.68	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8117	0.23809	0.0:1.0:0.0:0.0	.	.	.	.	X	28	.	ENSP00000006724:W28X	W	-	3	0	CEACAM7	46882973	0.842000	0.29525	0.053000	0.19242	0.021000	0.10359	1.177000	0.31969	1.235000	0.43724	0.313000	0.20887	TGG		PASS	0.507	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		39	38	39	38	---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42301575	42301575	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42301575C>T	ENST00000357396.3	+	2	360	c.119C>T	c.(118-120)tCc>tTc	p.S40F	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.S40F|CEACAM3_ENST00000221999.4_Missense_Mutation_p.S40F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	40	Ig-like V-type.					integral component of membrane (GO:0016021)		p.S40F(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ACTATTGAATCCATGCCGCTC	0.517																																						uc002orn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)TCC>TTC		carcinoembryonic antigen-related cell adhesion							147.0	139.0	142.0					19																	42301575		2203	4300	6503	SO:0001583	missense	1084					integral to membrane		g.chr19:42301575C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.119C>T	19.37:g.42301575C>T	ENSP00000349971:p.Ser40Phe					CEACAM3_uc010eia.1_Missense_Mutation_p.S40F|CEACAM3_uc002oro.1_RNA	p.S40F	NM_001815	NP_001806	P40198	CEAM3_HUMAN			2	195	+			40			Ig-like V-type.|Extracellular (Potential).		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.119C>T	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492092	0.44352	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.67698	-0.28;-0.28;-0.28	3.44	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82300	0.5007	M	0.87547	2.89	0.09310	N	1	D;D	0.76494	0.999;0.994	D;D	0.79784	0.993;0.984	T	0.71234	-0.4653	9	0.87932	D	0	.	10.7502	0.46205	0.0:1.0:0.0:0.0	.	40;40	G5E978;P40198	.;CEAM3_HUMAN	F	40	ENSP00000349971:S40F;ENSP00000221999:S40F;ENSP00000341725:S40F	ENSP00000221999:S40F	S	+	2	0	CEACAM3	46993415	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.627000	0.24506	1.644000	0.50603	0.514000	0.50259	TCC		PASS	0.517	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		40	60	40	60	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42355712	42355712	+	Missense_Mutation	SNP	C	C	T	rs200255208		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42355712C>T	ENST00000269945.3	+	9	1103	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	DMRTC2_ENST00000596827.1_Missense_Mutation_p.P402L	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	351	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P351L(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCCCAGCCCCCTCTGTTGCT	0.597																																						uc002ors.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)CCC>CTC		DMRT-like family C2							87.0	71.0	76.0					19																	42355712		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42355712C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.1052C>T	19.37:g.42355712C>T	ENSP00000269945:p.Pro351Leu					DMRTC2_uc002orr.1_3'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.P402L	p.P351L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			9	1135	+			351			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.1052C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931148	0.52866	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.4	5.4	0.78164	.	0.319059	0.27084	N	0.021018	T	0.55924	0.1951	L	0.57536	1.79	0.36391	D	0.86249	P;P	0.40602	0.608;0.723	B;B	0.38562	0.154;0.276	T	0.68868	-0.5295	9	0.72032	D	0.01	-3.7949	15.029	0.71691	0.0:1.0:0.0:0.0	.	402;351	B4DX56;Q8IXT2	.;DMRTD_HUMAN	L	351	.	ENSP00000269945:P351L	P	+	2	0	DMRTC2	47047552	0.593000	0.26840	0.697000	0.30258	0.709000	0.40893	3.707000	0.54838	2.706000	0.92434	0.655000	0.94253	CCC		PASS	0.597	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		5	31	5	31	---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42563519	42563519	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42563519G>A	ENST00000262895.3	-	5	668	c.669C>T	c.(667-669)tcC>tcT	p.S223S	GRIK5_ENST00000593562.1_Silent_p.S223S|GRIK5_ENST00000301218.4_Silent_p.S223S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	223					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S223S(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGATGAGGTGGGAGATGGAGG	0.587																																						uc002osj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(667-669)TCC>TCT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						188.0	154.0	166.0					19																	42563519		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42563519G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.669C>T	19.37:g.42563519G>A						GRIK5_uc010eib.1_Silent_p.S142S	p.S223S	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			5	704	-		Prostate(69;0.059)	223			Extracellular (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.669C>T	CCDS12595.1																																																																																				PASS	0.587	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			16	36	16	36	---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42729860	42729861	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42729860_42729861CC>TT	ENST00000301215.3	+	3	1530_1531	c.1305_1306CC>TT	c.(1303-1308)ccCCct>ccTTct	p.P436S		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	436	Pro-rich.				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.P436S(2)|p.P435P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CACCACCACCCCCTGCCCCACC	0.703																																						uc002osz.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1303-1305)CCC>CCT|c.(1306-1308)CCT>TCT		zinc finger protein 526																																				SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729860C>T|g.chr19:42729861C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		Exception_encountered	19.37:g.42729860_42729861delinsTT	ENSP00000301215:p.Pro436Ser						p.P435P|p.P436S	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	1461|1462	+		Prostate(69;0.0704)	435|436			Pro-rich.		B3KV29|Q69YI2|Q96E24	Silent|Missense_Mutation	SNP	ENST00000301215.3	37	c.1305C>T|c.1306C>T	CCDS12598.1																																																																																				PASS	0.703	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		3	5	3	5	---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42824508	42824508	+	Silent	SNP	C	C	T	rs375428180		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:42824508C>T	ENST00000301204.3	+	13	1154	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	TMEM145_ENST00000598766.1_Silent_p.F395F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	371					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.F371F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TTGCCAATTTCGGCATCCCCA	0.562																																						uc002otk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1111-1113)TTC>TTT		transmembrane protein 145		C		1,4405	2.1+/-5.4	0,1,2202	131.0	121.0	124.0		1113	-2.6	1.0	19		124	0,8600		0,0,4300	no	coding-synonymous	TMEM145	NM_173633.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		371/494	42824508	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42824508C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1113C>T	19.37:g.42824508C>T							p.F371F	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			13	1165	+		Prostate(69;0.00682)	371						Silent	SNP	ENST00000301204.3	37	c.1113C>T	CCDS12603.1																																																																																				PASS	0.562	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		10	42	10	42	---	---	---	---
IRGC	56269	broad.mit.edu	37	19	44222962	44222962	+	Silent	SNP	G	G	A	rs571682513		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:44222962G>A	ENST00000244314.5	+	2	451	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	84	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)	p.A84A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14655	0.0		0.001	False		,,,				2504	0.0				Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(250-252)GCG>GCA		immunity-related GTPase family, cinema							39.0	40.0	39.0					19																	44222962		2203	4298	6501	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222962G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.252G>A	19.37:g.44222962G>A							p.A84A	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	399	+		Prostate(69;0.0435)	84					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.252G>A	CCDS12629.1																																																																																				PASS	0.682	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		4	20	4	20	---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44271811	44271811	+	Missense_Mutation	SNP	G	G	A	rs200755307		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:44271811G>A	ENST00000262888.3	-	8	1563	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	390					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.R390W(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	TCCAGGGCCCGGTGTGAGCTG	0.622																																						uc002oxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1168-1170)CGG>TGG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	96.0	97.0		1168	1.6	0.1	19		97	0,8600		0,0,4300	no	missense	KCNN4	NM_002250.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	390/428	44271811	1,13005	2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44271811G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1168C>T	19.37:g.44271811G>A	ENSP00000262888:p.Arg390Trp					KCNN4_uc010eiz.2_Missense_Mutation_p.R314W	p.R390W	NM_002250	NP_002241	O15554	KCNN4_HUMAN			8	1564	-		Prostate(69;0.0352)	390					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.1168C>T	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597786	0.46318	2.27E-4	0.0	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99860	-7.25	3.87	1.57	0.23409	.	0.964301	0.08547	N	0.929502	D	0.99115	0.9695	L	0.40543	1.245	0.09310	N	1	D;D	0.67145	0.99;0.996	P;B	0.44477	0.451;0.425	D	0.99985	1.3138	10	0.87932	D	0	-2.973	2.7905	0.05387	0.1036:0.1806:0.5303:0.1855	.	284;390	D1MQ10;O15554	.;KCNN4_HUMAN	W	390;258	ENSP00000262888:R390W	ENSP00000262888:R390W	R	-	1	2	KCNN4	48963651	0.001000	0.12720	0.090000	0.20809	0.988000	0.76386	0.840000	0.27600	0.541000	0.28827	0.650000	0.86243	CGG		PASS	0.622	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		7	36	7	36	---	---	---	---
ZNF404	342908	broad.mit.edu	37	19	44378083	44378083	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:44378083C>T	ENST00000587539.1	-	3	282	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E93K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	95					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.E93K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTCCCAAATTCAATTGTGTAC	0.338																																						uc002oxs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GAA>AAA		zinc finger protein 404							129.0	135.0	134.0					19																	44378083		1841	4081	5922	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44378083C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.283G>A	19.37:g.44378083C>T	ENSP00000466051:p.Glu95Lys						p.E92K	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	283	-		Prostate(69;0.0352)	95					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.274G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.034878	0.00406	.	.	ENSG00000176222	ENST00000324394	T	0.06449	3.3	3.11	-5.33	0.02713	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44574	-0.9319	9	0.05525	T	0.97	.	2.095	0.03666	0.1267:0.1465:0.2514:0.4754	.	95	Q494X3	ZN404_HUMAN	K	93	ENSP00000319479:E93K	ENSP00000319479:E93K	E	-	1	0	ZNF404	49069923	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.561000	0.02158	-0.966000	0.03587	-0.714000	0.03626	GAA		PASS	0.338	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		44	66	44	66	---	---	---	---
ZNF221	7638	broad.mit.edu	37	19	44470564	44470564	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:44470564C>T	ENST00000251269.5	+	6	1238	c.910C>T	c.(910-912)Cat>Tat	p.H304Y	ZNF221_ENST00000592350.1_Missense_Mutation_p.H304Y|ZNF221_ENST00000587682.1_Missense_Mutation_p.H304Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	304					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.H304Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TCAGAGAATCCATACTGGGGA	0.403																																						uc002oxx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(910-912)CAT>TAT		zinc finger protein 221							134.0	136.0	135.0					19																	44470564		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470564C>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.910C>T	19.37:g.44470564C>T	ENSP00000251269:p.His304Tyr					ZNF221_uc010ejb.1_Missense_Mutation_p.H304Y|ZNF221_uc010xws.1_Missense_Mutation_p.H304Y	p.H304Y	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1238	+		Prostate(69;0.0352)	304			C2H2-type 5.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.910C>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.460349	0.84317	.	.	ENSG00000159905	ENST00000251269	T	0.67523	-0.27	2.44	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83926	0.5360	M	0.93375	3.41	0.26242	N	0.978853	D	0.89917	1.0	D	0.97110	1.0	T	0.72711	-0.4211	9	0.87932	D	0	.	9.1861	0.37172	0.2192:0.7808:0.0:0.0	.	304	Q9UK13	ZN221_HUMAN	Y	304	ENSP00000251269:H304Y	ENSP00000251269:H304Y	H	+	1	0	ZNF221	49162404	0.682000	0.27624	0.242000	0.24170	0.992000	0.81027	2.231000	0.43009	0.314000	0.23086	0.462000	0.41574	CAT		PASS	0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			22	95	22	95	---	---	---	---
ZNF221	7638	broad.mit.edu	37	19	44471222	44471222	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:44471222C>T	ENST00000251269.5	+	6	1896	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	ZNF221_ENST00000592350.1_Missense_Mutation_p.S523F|ZNF221_ENST00000587682.1_Missense_Mutation_p.S523F	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	523					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.S523F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAACTTCATTCCCATCAGACA	0.428																																						uc002oxx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1567-1569)TCC>TTC		zinc finger protein 221							96.0	90.0	92.0					19																	44471222		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471222C>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1568C>T	19.37:g.44471222C>T	ENSP00000251269:p.Ser523Phe					ZNF221_uc010ejb.1_Missense_Mutation_p.S523F|ZNF221_uc010xws.1_Missense_Mutation_p.S523F	p.S523F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1896	+		Prostate(69;0.0352)	523			C2H2-type 13.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1568C>T	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	c	9.309	1.055007	0.19907	.	.	ENSG00000159905	ENST00000251269	T	0.15372	2.43	2.63	-4.36	0.03645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	L	0.39397	1.21	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.36187	-0.9758	9	0.31617	T	0.26	.	2.0896	0.03654	0.1472:0.1764:0.1457:0.5306	.	523	Q9UK13	ZN221_HUMAN	F	523	ENSP00000251269:S523F	ENSP00000251269:S523F	S	+	2	0	ZNF221	49163062	0.000000	0.05858	0.000000	0.03702	0.773000	0.43773	-9.374000	0.00012	-0.756000	0.04703	0.313000	0.20887	TCC		PASS	0.428	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			9	50	9	50	---	---	---	---
PVR	5817	broad.mit.edu	37	19	45153245	45153245	+	Missense_Mutation	SNP	G	G	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:45153245G>C	ENST00000425690.3	+	3	891	c.592G>C	c.(592-594)Ggc>Cgc	p.G198R	PVR_ENST00000344956.4_Missense_Mutation_p.G198R|PVR_ENST00000406449.4_Missense_Mutation_p.G198R|PVR_ENST00000403059.4_Missense_Mutation_p.G198R|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	198	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)	p.G198R(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GTTCCTGTCTGGCACAGTCAC	0.622																																						uc002ozm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GGC>CGC		poliovirus receptor isoform alpha							69.0	61.0	64.0					19																	45153245		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45153245G>C	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.592G>C	19.37:g.45153245G>C	ENSP00000402060:p.Gly198Arg					PVR_uc010ejs.2_Missense_Mutation_p.G198R|PVR_uc010xxb.1_Missense_Mutation_p.G198R|PVR_uc010xxc.1_Missense_Mutation_p.G198R|PVR_uc002ozn.2_Missense_Mutation_p.G143R	p.G198R	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	3	891	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	198			Extracellular (Potential).|Ig-like C2-type 1.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.592G>C	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637710	0.67130	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.54	4.54	0.55810	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.409870	0.20606	N	0.089075	T	0.46014	0.1371	M	0.80616	2.505	0.40528	D	0.980902	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.42172	-0.9467	10	0.27785	T	0.31	.	12.7584	0.57350	0.0:0.0:1.0:0.0	.	198;198;198;198	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	R	198	ENSP00000340870:G198R;ENSP00000402060:G198R;ENSP00000383907:G198R;ENSP00000385344:G198R	ENSP00000340870:G198R	G	+	1	0	PVR	49845085	1.000000	0.71417	0.979000	0.43373	0.555000	0.35460	4.627000	0.61276	2.051000	0.60960	0.491000	0.48974	GGC		PASS	0.622	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		10	14	10	14	---	---	---	---
EXOC3L2	90332	broad.mit.edu	37	19	45716584	45716584	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:45716584G>A	ENST00000252482.3	-	9	1000	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Missense_Mutation_p.R325C			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	325					exocytosis (GO:0006887)	exocyst (GO:0000145)		p.R325C(1)		endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGCAGGCCACGGATGTCGAGG	0.672																																						uc002pay.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)CGT>TGT		exocyst complex component 3-like 2							39.0	41.0	40.0					19																	45716584		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45716584G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.973C>T	19.37:g.45716584G>A	ENSP00000252482:p.Arg325Cys						p.R325C	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1014	-		all_neural(266;0.224)|Ovarian(192;0.231)	325					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.973C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400220	0.62177	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.29397	1.57;1.57	4.39	3.32	0.38043	.	0.136296	0.48286	D	0.000196	T	0.51686	0.1689	M	0.75777	2.31	0.47009	D	0.999288	D	0.89917	1.0	D	0.97110	1.0	T	0.52328	-0.8590	10	0.87932	D	0	.	9.2254	0.37402	0.0:0.0:0.7732:0.2268	.	325	Q2M3D2	EX3L2_HUMAN	C	325	ENSP00000252482:R325C;ENSP00000400713:R325C	ENSP00000252482:R325C	R	-	1	0	EXOC3L2	50408424	1.000000	0.71417	0.886000	0.34754	0.634000	0.38068	3.869000	0.56062	0.765000	0.33221	0.455000	0.32223	CGT		PASS	0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		8	9	8	9	---	---	---	---
VASP	7408	broad.mit.edu	37	19	46021010	46021011	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46021010_46021011CC>TT	ENST00000245932.6	+	2	451_452	c.95_96CC>TT	c.(94-96)gCC>gTT	p.A32V	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	32	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.A32V(2)|p.A32A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GGTCCCCAGGCCTTCAGCCGCG	0.649																																						uc002pcg.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(94-96)GCC>GTC|c.(94-96)GCC>GCT		vasodilator-stimulated phosphoprotein																																				SO:0001583	missense	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46021010C>T|g.chr19:46021011C>T		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		Exception_encountered	19.37:g.46021010_46021011delinsTT	ENSP00000245932:p.Ala32Val					VASP_uc010eki.2_Missense_Mutation_p.P16S|VASP_uc002pci.2_Missense_Mutation_p.A19V|VASP_uc010eki.2_Missense_Mutation_p.P16L|VASP_uc002pci.2_Silent_p.A19A	p.A32V|p.A32A	NM_003370	NP_003361	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	2	437|438	+		Ovarian(192;0.051)|all_neural(266;0.112)	32			WH1.		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation|Silent	SNP	ENST00000245932.6	37	c.95C>T|c.96C>T	CCDS33051.1																																																																																				PASS	0.649	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			14|13	23|22	13	22	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46307946	46307946	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46307946G>A	ENST00000221538.3	-	3	1359	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	RSPH6A_ENST00000600188.1_Missense_Mutation_p.S142F|RSPH6A_ENST00000597055.1_Missense_Mutation_p.S406F	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	406						intracellular (GO:0005622)		p.S406F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTTCCATACGGACTTAGGGAC	0.647																																						uc002pdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1216-1218)TCC>TTC		radial spokehead-like 1							71.0	63.0	66.0					19																	46307946		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46307946G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1217C>T	19.37:g.46307946G>A	ENSP00000221538:p.Ser406Phe					RSPH6A_uc002pdl.2_Missense_Mutation_p.S142F	p.S406F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1360	-			406					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1217C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643659	0.29246	.	.	ENSG00000104941	ENST00000221538	T	0.15952	2.38	3.81	3.81	0.43845	.	0.191173	0.46145	D	0.000312	T	0.32255	0.0823	M	0.69358	2.11	0.27451	N	0.953437	P	0.51791	0.948	P	0.55455	0.776	T	0.05451	-1.0884	10	0.49607	T	0.09	-3.2305	14.0281	0.64597	0.0:0.0:1.0:0.0	.	406	Q9H0K4	RSH6A_HUMAN	F	406	ENSP00000221538:S406F	ENSP00000221538:S406F	S	-	2	0	RSPH6A	50999786	1.000000	0.71417	0.892000	0.35008	0.030000	0.12068	7.140000	0.77322	2.426000	0.82243	0.456000	0.33151	TCC		PASS	0.647	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			4	14	4	14	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46355740	46355740	+	Splice_Site	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46355740A>T	ENST00000245934.7	-	4	469	c.225T>A	c.(223-225)gaT>gaA	p.D75E		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	75	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D75E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGTCACTCACATCCAGGAAGT	0.507																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)GAT>GAA		symplekin							178.0	167.0	171.0					19																	46355740		1953	4151	6104	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46355740A>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.225+1T>A	19.37:g.46355740A>T						SYMPK_uc002pdo.1_Missense_Mutation_p.D75E|SYMPK_uc002pdp.1_Missense_Mutation_p.D75E|SYMPK_uc002pdq.1_Missense_Mutation_p.D75E	p.D75E	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	4	470	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	75			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.225T>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116814	0.37339	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.30714	1.52	5.23	-4.48	0.03515	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.25332	0.735	0.47659	D	0.999485	B;P	0.38827	0.15;0.649	B;B	0.32928	0.02;0.155	T	0.03166	-1.1065	9	.	.	.	.	12.9022	0.58130	0.5427:0.0:0.4573:0.0	.	90;75	Q4LE61;Q92797	.;SYMPK_HUMAN	E	75;79	ENSP00000245934:D75E	.	D	-	3	2	SYMPK	51047580	0.993000	0.37304	0.899000	0.35326	0.727000	0.41649	0.522000	0.22909	-1.240000	0.02529	-1.277000	0.01392	GAT		PASS	0.507	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Missense_Mutation	24	31	24	31	---	---	---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388122	46388122	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46388122G>A	ENST00000302165.3	-	1	1254	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.P304L(1)		cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGCCTTGCCCGGCTCCCGCAG	0.617																																						uc002pds.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)CCG>CTG		interferon regulatory factor 2 binding protein							33.0	39.0	37.0					19																	46388122		2202	4300	6502	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388122G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.911C>T	19.37:g.46388122G>A	ENSP00000307265:p.Pro304Leu						p.P304L	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1255	-		all_neural(266;0.113)|Ovarian(192;0.127)	304					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.911C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254994	0.22965	.	.	ENSG00000170604	ENST00000302165	T	0.16324	2.35	4.66	4.66	0.58398	.	0.177507	0.37906	N	0.001899	T	0.10852	0.0265	L	0.44542	1.39	0.41558	D	0.988619	P	0.39737	0.685	B	0.25140	0.058	T	0.13469	-1.0508	10	0.10902	T	0.67	.	12.9233	0.58245	0.0:0.0:1.0:0.0	.	304	Q8IU81	I2BP1_HUMAN	L	304	ENSP00000307265:P304L	ENSP00000307265:P304L	P	-	2	0	IRF2BP1	51079962	0.563000	0.26594	0.952000	0.39060	0.993000	0.82548	1.900000	0.39828	2.406000	0.81754	0.555000	0.69702	CCG		PASS	0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		5	14	5	14	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46443310	46443310	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46443310C>T	ENST00000263257.5	-	4	1484	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V430V(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCTGGTACTCCACCAACGTCT	0.662																																						uc002pdv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1288-1290)GTG>GTA		neuro-oncological ventral antigen 2							113.0	116.0	115.0					19																	46443310		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443310C>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1290G>A	19.37:g.46443310C>T							p.V430V	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1338	-		all_neural(266;0.113)|Ovarian(192;0.127)	430			KH 3.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1290G>A	CCDS12679.1																																																																																				PASS	0.662	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		35	53	35	53	---	---	---	---
IGFL2	147920	broad.mit.edu	37	19	46664061	46664061	+	Missense_Mutation	SNP	C	C	A	rs372017377		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46664061C>A	ENST00000377693.4	+	3	300	c.264C>A	c.(262-264)aaC>aaA	p.N88K	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000434646.2_Missense_Mutation_p.N99K	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	88						extracellular region (GO:0005576)		p.N99K(1)		cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCTCACAAACGATTTTGTTG	0.557																																						uc010xxv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)AAC>AAA		IGF-like family member 2 isoform b							148.0	154.0	152.0					19																	46664061		2197	4295	6492	SO:0001583	missense	147920					extracellular region	protein binding	g.chr19:46664061C>A	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.264C>A	19.37:g.46664061C>A	ENSP00000366922:p.Asn88Lys					IGFL2_uc002peb.2_Missense_Mutation_p.N99K	p.N88K	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	3	300	+		Ovarian(192;0.0908)|all_neural(266;0.113)	88					E9PAV1|Q6B9Z3	Missense_Mutation	SNP	ENST00000377693.4	37	c.264C>A	CCDS46121.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.631604	0.00813	.	.	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.21191	2.02;2.02	2.74	-0.82	0.10826	.	.	.	.	.	T	0.05364	0.0142	N	0.02539	-0.55	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.10450	0.002;0.005	T	0.39210	-0.9625	9	0.02654	T	1	-2.433	3.2157	0.06697	0.2797:0.2299:0.4904:0.0	.	88;99	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	K	99;88	ENSP00000395219:N99K;ENSP00000366922:N88K	ENSP00000366922:N88K	N	+	3	2	IGFL2	51355901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.542000	0.06091	-0.046000	0.13446	-0.603000	0.04100	AAC		PASS	0.557	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		5	143	5	143	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46914555	46914555	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46914555G>A	ENST00000307522.3	-	1	2286	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	505					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L505L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTCTTGGGCAGGGTTGGCAAC	0.622																																						uc002pep.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1513-1515)CTG>TTG		coiled-coil domain containing 8							57.0	56.0	56.0					19																	46914555		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914555G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1513C>T	19.37:g.46914555G>A							p.L505L	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2365	-			505					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1513C>T	CCDS12685.1																																																																																				PASS	0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	34	8	34	---	---	---	---
CCDC8	83987	broad.mit.edu	37	19	46915085	46915085	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:46915085C>T	ENST00000307522.3	-	1	1756	c.983G>A	c.(982-984)gGg>gAg	p.G328E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	328					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G328E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCCTCTGCCCCCTGGTCAGC	0.622																																						uc002pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(982-984)GGG>GAG		coiled-coil domain containing 8							91.0	97.0	95.0					19																	46915085		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915085C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.983G>A	19.37:g.46915085C>T	ENSP00000303158:p.Gly328Glu						p.G328E	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1835	-			328					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.983G>A	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.184730|2.184730	0.38609|0.38609	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.12879|.	2.64|.	4.21|4.21	3.16|3.16	0.36331|0.36331	.|.	1.332960|1.332960	0.05262|0.05262	N|N	0.515992|0.515992	T|T	0.33030|0.33030	0.0849|0.0849	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.08055|.	0.003|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|7	0.11794|0.44086	T|T	0.64|0.13	-3.7296|-3.7296	10.3717|10.3717	0.44058|0.44058	0.0:0.8983:0.0:0.1017|0.0:0.8983:0.0:0.1017	.|.	328|.	Q9H0W5|.	CCDC8_HUMAN|.	E|R	328|175	ENSP00000303158:G328E|.	ENSP00000303158:G328E|ENSP00000441180:G175R	G|G	-|-	2|1	0|0	CCDC8|CCDC8	51606925|51606925	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.020000|0.020000	0.10135|0.10135	-0.001000|-0.001000	0.12947|0.12947	1.065000|1.065000	0.40693|0.40693	-0.339000|-0.339000	0.08088|0.08088	GGG|GGG		PASS	0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		39	37	39	37	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47424480	47424480	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:47424480C>T	ENST00000404338.3	+	1	2548	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	850					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R850W(2)									CAGAAAGAGCCGGTTGGTTCA	0.418																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2548-2550)CGG>TGG		glucocorticoid receptor DNA binding factor 1							165.0	160.0	162.0					19																	47424480		1891	4113	6004	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424480C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2548C>T	19.37:g.47424480C>T	ENSP00000385720:p.Arg850Trp						p.R850W	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	2548	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	850					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2548C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750477	0.30955	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.46819	0.86	5.49	5.49	0.81192	.	0.104218	0.64402	D	0.000005	T	0.42539	0.1207	L	0.46157	1.445	0.48135	D	0.999592	B	0.12630	0.006	B	0.10450	0.005	T	0.33007	-0.9885	10	0.66056	D	0.02	-20.8499	12.6275	0.56638	0.0:0.9195:0.0:0.0805	.	850	Q9NRY4-2	.	W	850	ENSP00000385720:R850W	ENSP00000324820:R850W	R	+	1	2	ARHGAP35	52116320	0.115000	0.22152	1.000000	0.80357	0.982000	0.71751	0.977000	0.29475	2.743000	0.94032	0.655000	0.94253	CGG		PASS	0.418	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		12	59	12	59	---	---	---	---
MEIS3	56917	broad.mit.edu	37	19	47912413	47912413	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:47912413C>T	ENST00000558555.1	-	8	988	c.801G>A	c.(799-801)ggG>ggA	p.G267G	MEIS3_ENST00000561096.1_Silent_p.G355G|MEIS3_ENST00000561293.1_Silent_p.G267G|MEIS3_ENST00000559524.1_Silent_p.G267G|MEIS3_ENST00000441740.2_Silent_p.G250G|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000331559.5_Silent_p.G250G			Q99687	MEIS3_HUMAN	Meis homeobox 3	267					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.G267G(2)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGGGGAAGATCCCCCTCTTCT	0.612																																						uc002pgu.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)GGG>GGA		Meis1, myeloid ecotropic viral integration site							110.0	86.0	94.0					19																	47912413		2203	4300	6503	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47912413C>T	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.801G>A	19.37:g.47912413C>T						MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Silent_p.G66G|MEIS3_uc002pgp.2_Silent_p.G99G|MEIS3_uc002pgq.2_Silent_p.G348G|MEIS3_uc002pgr.2_Silent_p.G135G|MEIS3_uc002pgt.2_Silent_p.G250G|MEIS3_uc002pgv.2_Silent_p.G250G|MEIS3_uc002pgs.2_Silent_p.G267G|MEIS3_uc010eld.2_Silent_p.G267G	p.G267G	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	8	1248	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	267			Homeobox; TALE-type.		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.801G>A																																																																																					PASS	0.612	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		17	25	17	25	---	---	---	---
NAPA	8775	broad.mit.edu	37	19	47991584	47991584	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:47991584G>A	ENST00000263354.3	-	11	1148	c.849C>T	c.(847-849)atC>atT	p.I283I	NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.I244I	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	283					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.I283I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TGGTCTTCTTGATGCGCAGCA	0.637																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(847-849)ATC>ATT		N-ethylmaleimide-sensitive factor attachment							135.0	106.0	116.0					19																	47991584		2203	4300	6503	SO:0001819	synonymous_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47991584G>A	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.849C>T	19.37:g.47991584G>A						uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.I244I|NAPA_uc002phc.1_Silent_p.I170I|NAPA_uc002phd.1_Silent_p.I283I	p.I283I	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	11	1149	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	283					A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	c.849C>T	CCDS12702.1																																																																																				PASS	0.637	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		12	22	12	22	---	---	---	---
PLA2G4C	8605	broad.mit.edu	37	19	48601396	48601396	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:48601396C>T	ENST00000599921.1	-	6	925	c.568G>A	c.(568-570)Gag>Aag	p.E190K	PLA2G4C_ENST00000413144.2_Splice_Site_p.E190K|PLA2G4C_ENST00000354276.3_Splice_Site_p.E190K|PLA2G4C_ENST00000599111.1_Splice_Site_p.E200K			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	190	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.E190K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GTTTGCTTACCTGGTGCTCTT	0.527																																						uc002phx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)GAG>AAG		phospholipase A2, group IVC isoform 1 precursor							159.0	130.0	140.0					19																	48601396		2203	4300	6503	SO:0001630	splice_region_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48601396C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.568+1G>A	19.37:g.48601396C>T						PLA2G4C_uc002phw.2_Missense_Mutation_p.E125K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E190K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E200K|PLA2G4C_uc002phy.3_Missense_Mutation_p.G190S	p.E190K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	6	966	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	190			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.568G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	4.740	0.137551	0.09032	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.11169	2.8;2.8	2.35	-1.25	0.09405	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	1.239230	0.05809	N	0.613603	T	0.04092	0.0114	N	0.02985	-0.445	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.43845	-0.9366	9	.	.	.	-0.8762	5.8645	0.18767	0.0:0.503:0.0:0.497	.	200;190	B4DI40;Q9UP65	.;PA24C_HUMAN	K	190	ENSP00000346228:E190K;ENSP00000400036:E190K	.	E	-	1	0	PLA2G4C	53293208	0.148000	0.22702	0.027000	0.17364	0.014000	0.08584	-0.065000	0.11617	-0.375000	0.07955	-0.490000	0.04691	GAG		PASS	0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		Missense_Mutation	17	41	17	41	---	---	---	---
PLA2G4C	8605	broad.mit.edu	37	19	48603039	48603039	+	Silent	SNP	C	C	T	rs371011691		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:48603039C>T	ENST00000599921.1	-	5	693	c.336G>A	c.(334-336)caG>caA	p.Q112Q	PLA2G4C_ENST00000413144.2_Silent_p.Q112Q|PLA2G4C_ENST00000354276.3_Silent_p.Q112Q|PLA2G4C_ENST00000599111.1_Silent_p.Q122Q			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	112	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.Q112Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGTCCCACTCCTGTCGGGTAA	0.498																																						uc002phx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)CAG>CAA		phospholipase A2, group IVC isoform 1 precursor		C	,,	0,4406		0,0,2203	208.0	190.0	196.0		366,336,336	-1.5	0.1	19		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	122/552,112/528,112/542	48603039	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48603039C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.336G>A	19.37:g.48603039C>T						PLA2G4C_uc002phw.2_Silent_p.Q47Q|PLA2G4C_uc010elr.2_Silent_p.Q112Q|PLA2G4C_uc010xzd.1_Silent_p.Q122Q|PLA2G4C_uc002phy.3_Silent_p.Q112Q	p.Q112Q	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	5	734	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	112			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.336G>A	CCDS12710.1																																																																																				PASS	0.498	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			52	94	52	94	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48636269	48636269	+	Missense_Mutation	SNP	G	G	C	rs189517194		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:48636269G>C	ENST00000263274.7	-	18	2114	c.1695C>G	c.(1693-1695)tgC>tgG	p.C565W	LIG1_ENST00000427526.2_Missense_Mutation_p.C534W|LIG1_ENST00000536218.1_Missense_Mutation_p.C497W	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	565					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.C565W(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ATTTGTATTCGCAGGTGAAAG	0.567								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(1693-1695)TGC>TGG	NER	DNA ligase I	Bleomycin(DB00290)						181.0	167.0	172.0					19																	48636269		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48636269G>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1695C>G	19.37:g.48636269G>C	ENSP00000263274:p.Cys565Trp					LIG1_uc010xze.1_Missense_Mutation_p.C258W|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.C497W|LIG1_uc010xzg.1_Missense_Mutation_p.C534W	p.C565W	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	18	1815	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	565					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1695C>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261028	0.59431	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.81415	-1.49;-1.49;-1.49	5.47	2.07	0.26955	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.90645	0.7066	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90068	0.4161	10	0.87932	D	0	-26.6684	8.4576	0.32908	0.3224:0.0:0.6776:0.0	.	534;497;565	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	W	565;596;534;497	ENSP00000263274:C565W;ENSP00000442841:C534W;ENSP00000441531:C497W	ENSP00000263274:C565W	C	-	3	2	LIG1	53328081	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.509000	0.45459	0.784000	0.33661	-0.133000	0.14855	TGC		PASS	0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		71	88	71	88	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48646813	48646813	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:48646813C>T	ENST00000263274.7	-	11	1320	c.901G>A	c.(901-903)Gag>Aag	p.E301K	CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.E270K|LIG1_ENST00000536218.1_Missense_Mutation_p.E233K	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	301					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.E301K(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCAGACACCTCCTCGATCTTC	0.597								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(901-903)GAG>AAG	NER	DNA ligase I	Bleomycin(DB00290)						116.0	118.0	117.0					19																	48646813		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48646813C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.901G>A	19.37:g.48646813C>T	ENSP00000263274:p.Glu301Lys					LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.E233K|LIG1_uc010xzg.1_Missense_Mutation_p.E270K|LIG1_uc010xzh.1_RNA	p.E301K	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	11	1021	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	301					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.901G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403631	0.62288	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.25	3.17	0.36434	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.35249	1.045	0.58432	D	0.999998	B;B;B	0.26602	0.08;0.149;0.154	B;B;B	0.34038	0.112;0.109;0.174	T	0.04360	-1.0957	10	0.09338	T	0.73	-32.8489	12.2011	0.54326	0.0:0.8253:0.1747:0.0	.	270;233;301	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	K	301;332;270;233;269	ENSP00000263274:E301K;ENSP00000442841:E270K;ENSP00000441531:E233K;ENSP00000445928:E269K	ENSP00000263274:E301K	E	-	1	0	LIG1	53338625	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.406000	0.59748	1.029000	0.39812	0.655000	0.94253	GAG		PASS	0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		23	34	23	34	---	---	---	---
CYTH2	9266	broad.mit.edu	37	19	48975678	48975678	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:48975678A>C	ENST00000595676.1	+	4	433	c.283A>C	c.(283-285)Atc>Ctc	p.I95L	CTC-273B12.5_ENST00000593476.1_RNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.I111L|CTC-273B12.5_ENST00000600650.1_RNA|CYTH2_ENST00000452733.2_Missense_Mutation_p.I111L														p.I111L(1)									CAAGACAGCCATCGGGGACTA	0.637																																						uc002pjj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)ATC>CTC		cytohesin 2 isoform 1							53.0	48.0	50.0					19																	48975678		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48975678A>C																												ENST00000595676.1:c.283A>C	19.37:g.48975678A>C	ENSP00000470383:p.Ile95Leu					uc002pjg.2_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.I111L|CYTH2_uc002pji.2_RNA	p.I111L	NM_017457	NP_059431	Q99418	CYH2_HUMAN			4	631	+			111			SEC7.			Missense_Mutation	SNP	ENST00000595676.1	37	c.331A>C		.	.	.	.	.	.	.	.	.	.	a	24.8	4.567816	0.86439	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.51574	0.7;0.7;0.7	4.51	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.74258	2.255	0.58432	D	0.999993	D;P	0.56287	0.975;0.469	D;P	0.65323	0.934;0.846	T	0.62077	-0.6930	10	0.56958	D	0.05	.	8.4329	0.32769	0.9036:0.0:0.0964:0.0	.	111;111	B4DS60;Q99418-2	.;.	L	111;111;133	ENSP00000408236:I111L;ENSP00000391648:I111L;ENSP00000314566:I133L	ENSP00000314566:I133L	I	+	1	0	CYTH2	53667490	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.276000	0.95745	0.701000	0.31803	0.255000	0.18592	ATC		PASS	0.637	CTC-273B12.7-001	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000466132.1			7	13	7	13	---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49167065	49167065	+	Missense_Mutation	SNP	G	G	A	rs149409502		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49167065G>A	ENST00000270235.4	-	5	1072	c.977C>T	c.(976-978)cCa>cTa	p.P326L	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	326						extracellular region (GO:0005576)		p.P326L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGTTGCCTCTGGAATTCCTGT	0.547																																						uc002pkb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(976-978)CCA>CTA		netrin 5 precursor							112.0	104.0	107.0					19																	49167065		2203	4300	6503	SO:0001583	missense	126147					extracellular region		g.chr19:49167065G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.977C>T	19.37:g.49167065G>A	ENSP00000270235:p.Pro326Leu					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Missense_Mutation_p.P326L	p.P326L	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN			5	1073	-			326					Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.977C>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379995	0.24944	.	.	ENSG00000142233	ENST00000270235	T	0.28895	1.59	5.35	4.32	0.51571	.	0.110143	0.40640	N	0.001048	T	0.20170	0.0485	L	0.27053	0.805	0.58432	D	0.99999	P;B	0.40107	0.703;0.002	B;B	0.35470	0.203;0.006	T	0.04090	-1.0978	10	0.59425	D	0.04	.	10.3555	0.43960	0.091:0.0:0.9089:0.0	.	326;326	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	L	326	ENSP00000270235:P326L	ENSP00000270235:P326L	P	-	2	0	NTN5	53858877	1.000000	0.71417	0.996000	0.52242	0.149000	0.21700	1.082000	0.30803	1.426000	0.47256	0.650000	0.86243	CCA		PASS	0.547	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		5	19	5	19	---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49391367	49391367	+	Missense_Mutation	SNP	G	G	A	rs377277020		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49391367G>A	ENST00000221399.3	-	8	932	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	263					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.S263F(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGGCAGGGGGAGCGGATTGC	0.637																																						uc002pkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(787-789)TCC>TTC		tubby like protein 2		G	PHE/SER	0,4406		0,0,2203	74.0	52.0	60.0		788	-5.4	0.0	19		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	TULP2	NM_003323.2	155	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	263/521	49391367	1,13005	2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49391367G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.788C>T	19.37:g.49391367G>A	ENSP00000221399:p.Ser263Phe						p.S263F	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	8	939	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	263					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.788C>T	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023315	0.54683	0.0	1.16E-4	ENSG00000104804	ENST00000221399;ENST00000518572	D;T	0.83419	-1.72;2.23	4.76	-5.43	0.02632	Tubby, C-terminal (1);	3.303890	0.00604	N	0.000384	T	0.67859	0.2938	N	0.14661	0.345	0.09310	N	1	P	0.43826	0.818	B	0.43194	0.411	T	0.62291	-0.6885	10	0.72032	D	0.01	0.6907	0.9039	0.01280	0.2943:0.1147:0.3566:0.2344	.	263	O00295	TULP2_HUMAN	F	263;217	ENSP00000221399:S263F;ENSP00000428420:S217F	ENSP00000221399:S263F	S	-	2	0	TULP2	54083179	0.031000	0.19500	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	-0.856000	0.04120	-0.145000	0.13849	TCC		PASS	0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		9	24	9	24	---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49391432	49391432	+	Silent	SNP	G	G	A	rs142980256		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49391432G>A	ENST00000221399.3	-	8	867	c.723C>T	c.(721-723)gcC>gcT	p.A241A		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	241					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.A241A(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CGCCTTTCAGGGCCTTGGACA	0.592																																						uc002pkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(721-723)GCC>GCT		tubby like protein 2							97.0	66.0	77.0					19																	49391432		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49391432G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.723C>T	19.37:g.49391432G>A							p.A241A	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	8	874	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	241					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.723C>T	CCDS12739.1																																																																																				PASS	0.592	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		10	29	10	29	---	---	---	---
FTL	2512	broad.mit.edu	37	19	49469080	49469080	+	Silent	SNP	C	C	T	rs143106340		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49469080C>T	ENST00000331825.6	+	2	363	c.156C>T	c.(154-156)ttC>ttT	p.F52F	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	52	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.F52F(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GCCACTTCTTCCGCGAATTGG	0.587																																						uc002plo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)TTC>TTT		ferritin, light polypeptide	Iron Dextran(DB00893)	C		1,4405	2.1+/-5.4	0,1,2202	58.0	62.0	61.0		156	2.0	1.0	19	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	FTL	NM_000146.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		52/176	49469080	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49469080C>T	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.156C>T	19.37:g.49469080C>T						FTL_uc002pln.1_Silent_p.F52F	p.F52F	NM_000146	NP_000137	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	2	355	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	52			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	c.156C>T	CCDS33070.1																																																																																				PASS	0.587	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		11	33	11	33	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49631724	49631725	+	Splice_Site	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49631724_49631725GG>AA	ENST00000334186.4	+	3	690_691	c.341_342GG>AA	c.(340-342)cGG>cAA	p.R114Q	PPFIA3_ENST00000602351.1_Splice_Site_p.R114Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	114					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.R114Q(2)|p.R114R(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)		AACAACACGCGGGTGAGGGGTG	0.604																																						uc002pmr.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(1)	1						c.(340-342)CGG>CAG|c.(340-342)CGG>CGA		PTPRF interacting protein alpha 3																																				SO:0001630	splice_region_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49631724G>A|g.chr19:49631725G>A	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	Exception_encountered	19.37:g.49631724_49631725delinsAA						PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.R38Q|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'Flank|PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.R38R|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'Flank	p.R114Q|p.R114R	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)	3	673|674	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	114			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation|Silent	SNP	ENST00000334186.4	37	c.341G>A|c.342G>A	CCDS12758.1																																																																																				PASS	0.604	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	Missense_Mutation	12	16|15	12	15	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49913125	49913126	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49913125_49913126GG>AA	ENST00000447857.3	+	15	1467_1468	c.1262_1263GG>AA	c.(1261-1263)gGG>gAA	p.G421E		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	421						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G421E(2)|p.G421G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCCCCAGCTGGGGGACAGGTGA	0.579																																						uc002pnm.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(1261-1263)GGG>GAG|c.(1261-1263)GGG>GGA		coiled-coil domain containing 155																																				SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49913125G>A|g.chr19:49913126G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	Exception_encountered	19.37:g.49913125_49913126delinsAA	ENSP00000404220:p.Gly421Glu					CCDC155_uc010emx.1_Missense_Mutation_p.G392E|CCDC155_uc010emx.1_Silent_p.G392G	p.G421E|p.G421G	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			15	1436|1437	+			421					Q96MC3	Missense_Mutation|Silent	SNP	ENST00000447857.3	37	c.1262G>A|c.1263G>A	CCDS46140.1																																																																																				PASS	0.579	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		18	20	18	20	---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50208544	50208544	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:50208544G>A	ENST00000392518.4	+	10	1325	c.953G>A	c.(952-954)gGg>gAg	p.G318E	CPT1C_ENST00000354199.5_Missense_Mutation_p.G318E|CPT1C_ENST00000405931.2_Missense_Mutation_p.G307E|CPT1C_ENST00000323446.5_Missense_Mutation_p.G318E|CPT1C_ENST00000598293.1_Missense_Mutation_p.G318E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	318					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.G318E(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGGATTCCAGGGGTCCAAAAA	0.547																																						uc002ppj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(952-954)GGG>GAG		carnitine palmitoyltransferase 1C isoform 2							141.0	127.0	132.0					19																	50208544		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208544G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.953G>A	19.37:g.50208544G>A	ENSP00000376303:p.Gly318Glu					CPT1C_uc002ppl.3_Missense_Mutation_p.G284E|CPT1C_uc002ppi.2_Missense_Mutation_p.G235E|CPT1C_uc002ppk.2_Missense_Mutation_p.G307E|CPT1C_uc010eng.2_Missense_Mutation_p.G318E|CPT1C_uc010enh.2_Missense_Mutation_p.G318E|CPT1C_uc010ybc.1_Missense_Mutation_p.G189E|CPT1C_uc010eni.1_5'Flank	p.G318E	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	9	1158	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	318			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.953G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797293	0.96952	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	4.34	4.34	0.51931	.	0.000000	0.51477	D	0.000086	D	0.94414	0.8203	L	0.52364	1.645	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.99	D;D;D;D	0.97110	0.987;1.0;0.933;0.98	D	0.94589	0.7786	10	0.54805	T	0.06	-27.8089	15.7686	0.78146	0.0:0.0:1.0:0.0	.	189;318;307;318	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	E	318;318;307;318;189	ENSP00000376303:G318E;ENSP00000346138:G318E;ENSP00000384465:G307E;ENSP00000319343:G318E	ENSP00000295404:G189E	G	+	2	0	CPT1C	54900356	1.000000	0.71417	0.655000	0.29622	0.995000	0.86356	8.566000	0.90734	2.260000	0.74910	0.561000	0.74099	GGG		PASS	0.547	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		12	43	12	43	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50247621	50247621	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:50247621C>T	ENST00000246801.3	-	8	1310	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	TSKS_ENST00000358830.3_Missense_Mutation_p.E210K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	410					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.E410K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCTCCAGTTCGCTCCTCAGT	0.582																																						uc002ppm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1228-1230)GAA>AAA		testis-specific kinase substrate							70.0	63.0	66.0					19																	50247621		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50247621C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1228G>A	19.37:g.50247621C>T	ENSP00000246801:p.Glu410Lys						p.E410K	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1239	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	410					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1228G>A	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397678	0.62177	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.34275	1.37;1.37	4.99	4.99	0.66335	.	0.341652	0.25267	N	0.031905	T	0.25269	0.0614	N	0.24115	0.695	0.34816	D	0.73824	P	0.47106	0.89	B	0.39027	0.288	T	0.37842	-0.9688	10	0.49607	T	0.09	-4.7909	13.6499	0.62304	0.0:1.0:0.0:0.0	.	410	Q9UJT2	TSKS_HUMAN	K	410;210	ENSP00000246801:E410K;ENSP00000351691:E210K	ENSP00000246801:E410K	E	-	1	0	TSKS	54939433	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.425000	0.52771	2.592000	0.87571	0.555000	0.69702	GAA		PASS	0.582	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		14	23	14	23	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50864256	50864256	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:50864256C>T	ENST00000253719.2	-	5	818	c.610G>A	c.(610-612)Gat>Aat	p.D204N	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	204					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.D204N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCAGTACATCCATCGGGGGC	0.527																																						uc002prx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(610-612)GAT>AAT		napsin A preproprotein							75.0	71.0	73.0					19																	50864256		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864256C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.610G>A	19.37:g.50864256C>T	ENSP00000253719:p.Asp204Asn					NR1H2_uc002prv.3_Intron	p.D204N	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	663	-		all_neural(266;0.057)	204					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.610G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706192	0.68615	.	.	ENSG00000131400	ENST00000253719	T	0.32988	1.43	3.88	3.88	0.44766	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.63169	1.94	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.42699	-0.9436	10	0.27082	T	0.32	.	13.6764	0.62456	0.0:1.0:0.0:0.0	.	204	O96009	NAPSA_HUMAN	N	204	ENSP00000253719:D204N	ENSP00000253719:D204N	D	-	1	0	NAPSA	55556068	1.000000	0.71417	0.681000	0.30009	0.639000	0.38242	7.227000	0.78070	1.872000	0.54250	0.491000	0.48974	GAT		PASS	0.527	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		16	30	16	30	---	---	---	---
SPIB	6689	broad.mit.edu	37	19	50926872	50926872	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:50926872C>T	ENST00000595883.1	+	5	375	c.350C>T	c.(349-351)cCc>cTc	p.P117L	CTD-2545M3.6_ENST00000599632.1_Silent_p.S251S|SPIB_ENST00000596074.1_Silent_p.S45S|SPIB_ENST00000270632.7_Missense_Mutation_p.P117L|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Missense_Mutation_p.P26L	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	117					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P117L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCCTGGTTCCCCCGGCATAT	0.642																																						uc002psd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(349-351)CCC>CTC		Spi-B transcription factor (Spi-1/PU.1 related)							60.0	50.0	53.0					19																	50926872		2203	4300	6503	SO:0001583	missense	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926872C>T		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.350C>T	19.37:g.50926872C>T	ENSP00000471921:p.Pro117Leu					SPIB_uc002pse.2_Missense_Mutation_p.P117L|SPIB_uc010ycc.1_Missense_Mutation_p.P26L	p.P117L	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	375	+		all_neural(266;0.131)	117					A8K9C9|B4DUG6|Q15359	Missense_Mutation	SNP	ENST00000595883.1	37	c.350C>T	CCDS33080.1	.	.	.	.	.	.	.	.	.	.	.	0.089	-1.169558	0.01660	.	.	ENSG00000142539	ENST00000270632;ENST00000439922	T;T	0.52983	0.64;1.84	4.13	1.91	0.25777	.	0.832264	0.10315	N	0.689413	T	0.33294	0.0858	L	0.44542	1.39	0.09310	N	1	B;B;B	0.11235	0.0;0.004;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.29427	-1.0012	10	0.12103	T	0.63	-0.0473	4.9407	0.13963	0.2086:0.6801:0.0:0.1113	.	26;117;117	B4DUG6;Q01892-2;Q01892	.;.;SPIB_HUMAN	L	117;26	ENSP00000270632:P117L;ENSP00000391877:P26L	ENSP00000270632:P117L	P	+	2	0	SPIB	55618684	0.166000	0.22962	0.021000	0.16686	0.075000	0.17131	2.685000	0.46959	0.475000	0.27415	0.462000	0.41574	CCC		PASS	0.642	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1	NM_003121		5	17	5	17	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51128808	51128808	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:51128808C>T	ENST00000338916.4	-	6	2049	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	SYT3_ENST00000593901.1_Silent_p.K472K|SYT3_ENST00000544769.1_Silent_p.K472K|SYT3_ENST00000600079.1_Silent_p.K472K	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	472	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.K472K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGGGAGGCCTTCACGTAGG	0.597																																						uc002pst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1414-1416)AAG>AAA		synaptotagmin III							46.0	43.0	44.0					19																	51128808		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51128808C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1416G>A	19.37:g.51128808C>T						SYT3_uc002psv.2_Silent_p.K472K|SYT3_uc010ycd.1_Silent_p.K472K	p.K472K	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	6	2050	-		all_neural(266;0.131)	472			C2 2.|Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1416G>A	CCDS12798.1																																																																																				PASS	0.597	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		4	10	4	10	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51630380	51630380	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:51630380C>T	ENST00000250360.3	+	4	909	c.842C>T	c.(841-843)cCc>cTc	p.P281L	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.P281L	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	281	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P281L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GACAGCAATCCCCCTGCCAGG	0.607																																						uc002pvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(841-843)CCC>CTC		sialic acid binding Ig-like lectin 9 precursor							101.0	97.0	98.0					19																	51630380		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630380C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.842C>T	19.37:g.51630380C>T	ENSP00000250360:p.Pro281Leu					SIGLEC9_uc010yct.1_Missense_Mutation_p.P281L	p.P281L	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	909	+		all_neural(266;0.0529)	281			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.842C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265180	0.40095	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.28069	1.63;1.63	2.3	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37906	N	0.001898	T	0.60470	0.2271	H	0.94620	3.56	0.19300	N	0.999975	D	0.89917	1.0	D	0.80764	0.994	T	0.52881	-0.8516	10	0.87932	D	0	.	7.7535	0.28911	0.0:1.0:0.0:0.0	.	281	Q9Y336	SIGL9_HUMAN	L	281	ENSP00000413861:P281L;ENSP00000250360:P281L	ENSP00000250360:P281L	P	+	2	0	SIGLEC9	56322192	0.183000	0.23186	0.098000	0.21074	0.005000	0.04900	0.934000	0.28910	1.127000	0.42034	0.407000	0.27541	CCC		PASS	0.607	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	64	9	64	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51645695	51645695	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:51645695G>A	ENST00000317643.6	+	1	138	c.69G>A	c.(67-69)cgG>cgA	p.R23R	SIGLEC7_ENST00000305628.7_Silent_p.R23R|SIGLEC7_ENST00000600577.1_Silent_p.R23R	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	23					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R23R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGAGTAACCGGAAGGATTACT	0.617																																						uc002pvv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(67-69)CGG>CGA		sialic acid binding Ig-like lectin 7 isoform 1							112.0	75.0	87.0					19																	51645695		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51645695G>A	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.69G>A	19.37:g.51645695G>A						SIGLEC7_uc002pvw.1_Silent_p.R23R|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Silent_p.R23R	p.R23R	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	1	138	+		all_neural(266;0.0199)	23			Extracellular (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.69G>A	CCDS12826.1																																																																																				PASS	0.617	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		10	13	10	13	---	---	---	---
NKG7	4818	broad.mit.edu	37	19	51875759	51875759	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:51875759C>T	ENST00000221978.5	-	1	210	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	NKG7_ENST00000595217.1_Missense_Mutation_p.G11R|NKG7_ENST00000600427.1_Missense_Mutation_p.G11R	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	11						integral component of plasma membrane (GO:0005887)		p.G11R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGGAGCCCCCCAGCAGGGCC	0.612																																						uc002pwj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(31-33)GGG>AGG		natural killer cell group 7 sequence							41.0	46.0	44.0					19																	51875759		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875759C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.31G>A	19.37:g.51875759C>T	ENSP00000221978:p.Gly11Arg					NKG7_uc002pwk.2_Missense_Mutation_p.G11R	p.G11R	NM_005601	NP_005592	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	202	-		all_neural(266;0.0199)	11			Helical; (Potential).			Missense_Mutation	SNP	ENST00000221978.5	37	c.31G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021427	0.35701	.	.	ENSG00000105374	ENST00000221978	.	.	.	4.98	-9.95	0.00446	.	1.314860	0.05254	N	0.514495	T	0.13415	0.0325	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	9	0.25751	T	0.34	0.2964	5.1914	0.15212	0.336:0.1736:0.0:0.4904	.	11	Q16617	NKG7_HUMAN	R	11	.	ENSP00000221978:G11R	G	-	1	0	NKG7	56567571	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.092000	0.01354	-1.414000	0.02025	-1.036000	0.02392	GGG		PASS	0.612	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		9	17	9	17	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	52003495	52003496	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52003495_52003496CC>TT	ENST00000291707.3	-	2	541_542	c.486_487GG>AA	c.(484-489)caGGag>caAAag	p.E163K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E45K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	163	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E163K(2)|p.Q162Q(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGACCCTCCTGCACAGTCA	0.584																																						uc002pwx.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(2)	5						c.(487-489)GAG>AAG|c.(484-486)CAG>CAA		sialic acid binding immunoglobulin-like																																				SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52003495C>T|g.chr19:52003496C>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.486_487delinsTT	19.37:g.52003495_52003496delinsTT	ENSP00000291707:p.Glu163Lys					SIGLEC12_uc002pww.1_Missense_Mutation_p.E45K|SIGLEC12_uc010eoy.1_Intron|SIGLEC12_uc002pww.1_Silent_p.Q44Q|SIGLEC12_uc010eoy.1_Intron	p.E163K|p.Q162Q	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	543|542	-		all_neural(266;0.0199)	163|162			Ig-like V-type 2.|Extracellular (Potential).		Q8IYH7	Missense_Mutation|Silent	SNP	ENST00000291707.3	37	c.487G>A|c.486G>A	CCDS12833.1																																																																																				PASS	0.584	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		21	38|39	21	38	---	---	---	---
FPR1	2357	broad.mit.edu	37	19	52249567	52249567	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52249567C>T	ENST00000595042.1	-	3	822	c.681G>A	c.(679-681)aaG>aaA	p.K227K	FPR1_ENST00000304748.4_Silent_p.K227K	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	227					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.K227K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCTTGTGGATCTTGGTGGCAA	0.532																																						uc002pxq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(679-681)AAG>AAA		formyl peptide receptor 1	Nedocromil(DB00716)						118.0	106.0	110.0					19																	52249567		2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249567C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.681G>A	19.37:g.52249567C>T							p.K227K	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	776	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	227			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.681G>A	CCDS12839.1																																																																																				PASS	0.532	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		23	26	23	26	---	---	---	---
ZNF615	284370	broad.mit.edu	37	19	52496630	52496630	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52496630G>A	ENST00000602063.1	-	6	2048	c.1699C>T	c.(1699-1701)Ccc>Tcc	p.P567S	ZNF615_ENST00000391795.3_Missense_Mutation_p.P572S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P567S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P578S|ZNF615_ENST00000598071.1_Missense_Mutation_p.P578S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	567					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.P578S(1)|p.P567S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATACATAGGGTTTCTCTCCT	0.428																																						uc002pye.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1699-1701)CCC>TCC		zinc finger protein 615							117.0	101.0	107.0					19																	52496630		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496630G>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1699C>T	19.37:g.52496630G>A	ENSP00000473089:p.Pro567Ser					ZNF615_uc002pyf.1_Missense_Mutation_p.P578S|ZNF615_uc002pyg.1_Missense_Mutation_p.P459S|ZNF615_uc002pyh.1_Missense_Mutation_p.P578S|ZNF615_uc010epi.1_Missense_Mutation_p.P574S|ZNF615_uc010ydg.1_Missense_Mutation_p.P572S	p.P567S	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1991	-		all_neural(266;0.117)	567					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1699C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075686	0.55646	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795	T;T	0.55930	0.49;0.49	3.09	3.09	0.35607	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64216	0.2578	L	0.48877	1.53	0.43503	D	0.995752	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.66312	-0.5955	9	0.52906	T	0.07	.	13.4094	0.60933	0.0:0.0:1.0:0.0	.	572;574;578;567	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	S	567;577;572	ENSP00000365906:P567S;ENSP00000375672:P572S	ENSP00000347019:P577S	P	-	1	0	ZNF615	57188442	0.880000	0.30214	0.970000	0.41538	0.986000	0.74619	2.700000	0.47085	1.706000	0.51276	0.655000	0.94253	CCC		PASS	0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		30	29	30	29	---	---	---	---
ZNF614	80110	broad.mit.edu	37	19	52521720	52521720	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52521720C>G	ENST00000270649.6	-	3	587	c.43G>C	c.(43-45)Gtg>Ctg	p.V15L	ZNF614_ENST00000356322.6_Missense_Mutation_p.V15L	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.V15L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGAATTCCACAGCCACATCC	0.418																																						uc002pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(43-45)GTG>CTG		zinc finger protein 614							88.0	85.0	86.0					19																	52521720		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52521720C>G	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.43G>C	19.37:g.52521720C>G	ENSP00000270649:p.Val15Leu					ZNF614_uc002pyi.3_Missense_Mutation_p.V15L|ZNF614_uc010epj.2_5'UTR	p.V15L	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	445	-		all_neural(266;0.0505)	15			KRAB.		Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.43G>C	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915160	0.73098	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.04156	3.69;3.69	3.23	3.23	0.37069	Krueppel-associated box (4);	.	.	.	.	T	0.26048	0.0635	M	0.89658	3.05	0.24759	N	0.992936	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.03630	-1.1018	9	0.87932	D	0	.	12.2994	0.54866	0.0:1.0:0.0:0.0	.	15;15	Q8N883;Q9BSN8	ZN614_HUMAN;.	L	15	ENSP00000348674:V15L;ENSP00000270649:V15L	ENSP00000270649:V15L	V	-	1	0	ZNF614	57213532	0.977000	0.34250	0.987000	0.45799	0.972000	0.66771	1.318000	0.33643	1.798000	0.52647	0.591000	0.81541	GTG		PASS	0.418	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		12	20	12	20	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52724338	52724338	+	Silent	SNP	C	C	T	rs187141962		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52724338C>T	ENST00000322088.6	+	12	1528	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Silent_p.S435S|PPP2R1A_ENST00000462990.1_Silent_p.S311S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	490	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S490S(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCCATGTCCGGAGACCCCA	0.592			Mis		clear cell ovarian carcinoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		19563	0.0		0.001	False		,,,				2504	0.0					uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - coding silent(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1468-1470)TCC>TCT		alpha isoform of regulatory subunit A, protein							168.0	139.0	149.0					19																	52724338		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724338C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1470C>T	19.37:g.52724338C>T						PPP2R1A_uc010ydk.1_Silent_p.S435S|PPP2R1A_uc002pyq.2_Silent_p.S311S	p.S490S	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1629	+			490			PP2A subunit C binding.|HEAT 13.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1470C>T	CCDS12849.1																																																																																				PASS	0.592	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		17	57	17	57	---	---	---	---
ZNF610	162963	broad.mit.edu	37	19	52857607	52857607	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52857607G>A	ENST00000403906.3	+	5	750	c.294G>A	c.(292-294)agG>agA	p.R98R	ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000327920.8_Silent_p.R98R|ZNF610_ENST00000321287.8_Silent_p.R98R	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	98					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.R98R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAGATGGAAGGGAATGTGTCA	0.403																																						uc002pyx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(292-294)AGG>AGA		zinc finger protein 610 isoform a							72.0	76.0	74.0					19																	52857607		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52857607G>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.294G>A	19.37:g.52857607G>A						ZNF610_uc002pyy.3_Silent_p.R98R|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Silent_p.R98R	p.R98R	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	700	+			98					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.294G>A	CCDS12851.1																																																																																				PASS	0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		19	9	19	9	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919338	52919338	+	Silent	SNP	C	C	T	rs569201648		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:52919338C>T	ENST00000360465.3	+	7	1659	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	411					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.C411C(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTTATGGATGCAGTCAGTGTG	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21550	0.0		0.0	False		,,,				2504	0.0					uc002pzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1231-1233)TGC>TGT		zinc finger protein 528							77.0	78.0	78.0					19																	52919338		2203	4300	6503	SO:0001819	synonymous_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919338C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1233C>T	19.37:g.52919338C>T						ZNF528_uc002pzi.2_Silent_p.C178C	p.C411C	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1659	+			411			C2H2-type 8.		B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	c.1233C>T	CCDS33091.1																																																																																				PASS	0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		12	31	12	31	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53014301	53014301	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53014301G>A	ENST00000421239.2	+	6	911	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	223					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.E223K(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAAAAACAGGAAGTACACAT	0.338																																						uc002pzp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GAA>AAA		zinc finger protein 578							69.0	71.0	70.0					19																	53014301		2202	4300	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014301G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.667G>A	19.37:g.53014301G>A	ENSP00000459216:p.Glu223Lys						p.E223K	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	911	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.667G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.432	-0.902722	0.02453	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-1.97	0.07503	.	.	.	.	.	T	0.23410	0.0566	N	0.03154	-0.405	0.09310	N	1	D	0.67145	0.996	D	0.73708	0.981	T	0.18147	-1.0346	7	.	.	.	.	5.5962	0.17329	0.6934:0.0:0.3066:0.0	.	223	G3V4F6	.	K	223	.	.	E	+	1	0	ZNF578	57706113	0.000000	0.05858	0.000000	0.03702	0.364000	0.29643	-0.444000	0.06854	-0.728000	0.04882	0.134000	0.15878	GAA		PASS	0.338	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		13	60	13	60	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53014382	53014382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53014382C>T	ENST00000421239.2	+	6	992	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	250					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.Q250*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGGAAACATCAGATAATCCA	0.353																																						uc002pzp.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(748-750)CAG>TAG		zinc finger protein 578							74.0	79.0	77.0					19																	53014382		2201	4297	6498	SO:0001587	stop_gained	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014382C>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.748C>T	19.37:g.53014382C>T	ENSP00000459216:p.Gln250*						p.Q250*	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	992	+			25			C2H2-type 1; degenerate.		B4DR51|I3L1Y6	Nonsense_Mutation	SNP	ENST00000421239.2	37	c.748C>T	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	16.38	3.108158	0.56291	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0853	0.25254	0.0:0.7148:0.2852:0.0	.	.	.	.	X	250	.	.	Q	+	1	0	ZNF578	57706194	0.000000	0.05858	0.016000	0.15963	0.143000	0.21401	-0.950000	0.03889	0.835000	0.34877	0.297000	0.19635	CAG		PASS	0.353	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		9	76	9	76	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53014608	53014608	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53014608G>A	ENST00000421239.2	+	6	1218	c.974G>A	c.(973-975)aGt>aAt	p.S325N	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	325					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.S325N(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGTCCTTCAGTTACAAGTCA	0.423																																						uc002pzp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)AGT>AAT		zinc finger protein 578							104.0	108.0	106.0					19																	53014608		2202	4300	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014608G>A	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.974G>A	19.37:g.53014608G>A	ENSP00000459216:p.Ser325Asn						p.S325N	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1218	+			100			C2H2-type 4.		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.974G>A	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	1.726	-0.495409	0.04291	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.24851	0.0603	L	0.33137	0.985	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.09662	-1.0664	7	.	.	.	.	4.3723	0.11253	0.1174:0.474:0.2859:0.1228	.	325	G3V4F6	.	N	325	.	.	S	+	2	0	ZNF578	57706420	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-5.525000	0.00116	-3.061000	0.00256	-1.011000	0.02470	AGT		PASS	0.423	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		38	54	38	54	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53015300	53015300	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53015300A>C	ENST00000421239.2	+	6	1910	c.1666A>C	c.(1666-1668)Aac>Cac	p.N556H	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	556					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.N556H(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTATCTGGCAAACCATACTAG	0.403																																						uc002pzp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1666-1668)AAC>CAC		zinc finger protein 578							63.0	68.0	66.0					19																	53015300		2199	4298	6497	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015300A>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1666A>C	19.37:g.53015300A>C	ENSP00000459216:p.Asn556His						p.N556H	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1910	+			331			C2H2-type 12.		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.1666A>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	0.021	-1.423215	0.01126	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	-2.75	0.05914	.	.	.	.	.	T	0.16896	0.0406	N	0.21545	0.675	0.09310	N	1	B	0.21225	0.053	B	0.12156	0.007	T	0.21314	-1.0249	7	.	.	.	.	1.0285	0.01533	0.2204:0.3108:0.3033:0.1655	.	556	G3V4F6	.	H	556	.	.	N	+	1	0	ZNF578	57707112	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.037000	0.00157	-1.218000	0.02601	-0.779000	0.03376	AAC		PASS	0.403	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		24	35	24	35	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269658	53269658	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53269658A>G	ENST00000338230.3	-	3	1618	c.1351T>C	c.(1351-1353)Ttc>Ctc	p.F451L		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	451					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.F451L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		CCACAACTGAAAACCTTTTCA	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)TTC>CTC		zinc finger protein 600							97.0	98.0	98.0					19																	53269658		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269658A>G	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1351T>C	19.37:g.53269658A>G	ENSP00000344791:p.Phe451Leu						p.F451L	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1637	-			451			C2H2-type 11; degenerate.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1351T>C	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.966200	0.53507	.	.	ENSG00000189190	ENST00000338230	T	0.46063	0.88	1.57	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59797	0.2220	M	0.75085	2.285	0.09310	N	0.999999	D	0.76494	0.999	D	0.77004	0.989	T	0.44345	-0.9334	9	0.87932	D	0	.	8.0089	0.30342	1.0:0.0:0.0:0.0	.	451	Q6ZNG1	ZN600_HUMAN	L	451	ENSP00000344791:F451L	ENSP00000344791:F451L	F	-	1	0	ZNF600	57961470	0.998000	0.40836	0.001000	0.08648	0.011000	0.07611	6.930000	0.75858	0.730000	0.32425	0.248000	0.18094	TTC		PASS	0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		20	64	20	64	---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53741139	53741139	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53741139G>A	ENST00000598513.1	-	5	991	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ZNF677_ENST00000333952.4_Missense_Mutation_p.H281Y|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	281					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.H281Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATTCTCTGATGATTAGTGAGG	0.398																																						uc002qbf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)CAT>TAT		zinc finger protein 677							90.0	83.0	85.0					19																	53741139		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741139G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.841C>T	19.37:g.53741139G>A	ENSP00000469391:p.His281Tyr					ZNF677_uc002qbg.1_Missense_Mutation_p.H281Y	p.H281Y	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1026	-			281			C2H2-type 1.			Missense_Mutation	SNP	ENST00000598513.1	37	c.841C>T	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386273	0.42308	.	.	ENSG00000197928	ENST00000333952	D	0.86769	-2.17	2.1	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36303	N	0.002673	D	0.89795	0.6818	M	0.93507	3.425	0.09310	N	1	D	0.64830	0.994	P	0.45037	0.467	D	0.84399	0.0559	10	0.87932	D	0	.	10.2857	0.43566	0.0:0.0:1.0:0.0	.	281	Q86XU0	ZN677_HUMAN	Y	281	ENSP00000334394:H281Y	ENSP00000334394:H281Y	H	-	1	0	ZNF677	58432951	1.000000	0.71417	0.058000	0.19502	0.992000	0.81027	4.985000	0.63845	1.504000	0.48704	0.650000	0.86243	CAT		PASS	0.398	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		9	33	9	33	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762721	53762721	+	Missense_Mutation	SNP	T	T	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53762721T>G	ENST00000341702.3	+	1	1177	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	365					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.F365V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TATTAGCCCTTTTGTTCTCAT	0.433																																						uc002qbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)TTT>GTT		vomeronasal 1 receptor 2							193.0	180.0	185.0					19																	53762721		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762721T>G	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1093T>G	19.37:g.53762721T>G	ENSP00000351244:p.Phe365Val						p.F365V	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1177	+			365			Helical; Name=7; (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1093T>G	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295067	0.40594	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60196	0.2250	M	0.88241	2.94	0.09310	N	1	D	0.67145	0.996	D	0.70227	0.968	T	0.48801	-0.9003	9	0.72032	D	0.01	.	6.3674	0.21463	0.0:0.0:0.2547:0.7452	.	365	Q8NFZ6	VN1R2_HUMAN	V	365	ENSP00000351244:F365V	ENSP00000351244:F365V	F	+	1	0	VN1R2	58454533	0.008000	0.16893	0.016000	0.15963	0.051000	0.14879	1.032000	0.30178	1.619000	0.50296	0.486000	0.48141	TTT		PASS	0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		46	45	46	45	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53770583C>T	ENST00000311170.4	-	1	389	c.336G>A	c.(334-336)agG>agA	p.R112R	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	112					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.R112R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498										HNSCC(26;0.072)																												uc010ydu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(334-336)AGG>AGA		vomeronasal 1 receptor 4							49.0	38.0	42.0					19																	53770583		2203	4300	6503	SO:0001819	synonymous_variant	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770583C>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.336G>A	19.37:g.53770583C>T		HNSCC(26;0.072)					p.R112R	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	336	-			112			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	c.336G>A	CCDS33099.1																																																																																				PASS	0.498	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		5	9	5	9	---	---	---	---
ZNF761	388561	broad.mit.edu	37	19	53959500	53959500	+	RNA	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:53959500G>T	ENST00000454407.1	+	0	2192							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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.C526F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCTTACAAATGTGAAGATAGT	0.388																																						uc010eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1738-1740)TGT>TTT		zinc finger protein 761							94.0	96.0	95.0					19																	53959500		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959500G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959500G>T						ZNF761_uc010ydy.1_Missense_Mutation_p.C526F|ZNF761_uc002qbt.1_Missense_Mutation_p.C526F	p.C580F	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2197	+			580			C2H2-type 14; degenerate.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1739G>T																																																																																					PASS	0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		33	48	33	48	---	---	---	---
MIR518C	574477	broad.mit.edu	37	19	54214278	54214278	+	RNA	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54214278G>A	ENST00000384822.1	+	0	101				MIR519D_ENST00000385246.1_RNA|MIR517A_ENST00000385001.1_RNA|MIR524_ENST00000385242.1_RNA	NR_030199.1				microRNA 518c																		ACCCTACAAAGGGAAGCACTT	0.433																																						hsa-mir-524|MI0003160																			0					0															127.0	117.0	120.0					19																	54214278		1568	3582	5150			574478							g.chr19:54214278G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207553	ENSG00000207553		"""ncRNAs / Micro RNAs"""	32109	non-coding RNA	RNA, micro				MIRN518C			Standard	NR_030199		Approved	hsa-mir-518c	uc021vac.1				19.37:g.54214278G>A						MIR517A_hsa-mir-517a|MI0003161_5'Flank|MIR519D_hsa-mir-519d|MI0003162_5'Flank										+									RNA	SNP	ENST00000384822.1	37	c.23G>A																																																																																					PASS	0.433	MIR518C-201	KNOWN	basic	miRNA	miRNA		NR_030199		23	112	23	112	---	---	---	---
MIR521-2	574481	broad.mit.edu	37	19	54219882	54219882	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54219882C>T	ENST00000384818.1	+	0	35				RNU6-803P_ENST00000516034.1_RNA	NR_030203.1				microRNA 521-2																		GAAGAATTTTCTCTTGTCTAA	0.423																																						hsa-mir-521-2|MI0003163																			0					0															163.0	161.0	162.0					19																	54219882		1568	3582	5150			574481							g.chr19:54219882C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207549	ENSG00000207549		"""ncRNAs / Micro RNAs"""	32113	non-coding RNA	RNA, micro				MIRN521-2			Standard	NR_030203		Approved	hsa-mir-521-2	uc021vag.1				19.37:g.54219882C>T																+									RNA	SNP	ENST00000384818.1	37	c.35C>T																																																																																					PASS	0.423	MIR521-2-201	KNOWN	basic	miRNA	miRNA		NR_030203		53	96	53	96	---	---	---	---
MIR520D	574482	broad.mit.edu	37	19	54224374	54224374	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54224374C>T	ENST00000385002.1	+	0	87				RNU6-803P_ENST00000516034.1_RNA|MIR517B_ENST00000385102.1_RNA|MIR520G_ENST00000385064.1_RNA	NR_030204.1				microRNA 520d																		AAGAAAAGATCGTGCATCCCT	0.408																																						hsa-mir-517b|MI0003165																			0					0															230.0	202.0	211.0					19																	54224374		1568	3582	5150			574483							g.chr19:54224374C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54224374C>T						MIR520G_hsa-mir-520g|MI0003166_5'Flank										+									RNA	SNP	ENST00000385002.1	37	c.45C>T																																																																																					PASS	0.408	MIR520D-201	KNOWN	basic	miRNA	miRNA		NR_030204		17	81	17	81	---	---	---	---
MIR518A2	574491	broad.mit.edu	37	19	54240181	54240181	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54240181C>T	ENST00000384966.1	+	0	0				MIR516B1_ENST00000385211.1_RNA|MIR518D_ENST00000385014.1_RNA	NR_030213.1				microRNA 518a-2																		GAGGGTTACTCTTTGAGAAAA	0.413																																						hsa-mir-516b-1|MI0003172																			0					0															105.0	89.0	94.0					19																	54240181		1568	3582	5150			574490							g.chr19:54240181C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54240181C>T						MIR518A2_hsa-mir-518a-2|MI0003173_5'Flank										+									RNA	SNP	ENST00000384966.1	37	c.83C>T																																																																																					PASS	0.413	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		15	47	15	47	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54304506	54304506	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54304506G>A	ENST00000324134.6	-	7	2899	c.2731C>T	c.(2731-2733)Ccc>Tcc	p.P911S	NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.P912S|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.P911S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P912S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P911S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	911					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P911S(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGCACGTGGGATGCCTGAGG	0.622																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2731-2733)CCC>TCC		NLR family, pyrin domain containing 12 isoform							68.0	64.0	65.0					19																	54304506		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304506G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2731C>T	19.37:g.54304506G>A	ENSP00000319377:p.Pro911Ser					NLRP12_uc010eqw.2_Missense_Mutation_p.P194S|NLRP12_uc002qci.3_Missense_Mutation_p.P911S|NLRP12_uc002qcj.3_Missense_Mutation_p.P912S|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	p.P911S	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	7	2951	-	Ovarian(34;0.19)		911					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2731C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962299	0.34659	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.45	3.28	0.37604	.	0.386982	0.19002	N	0.125305	T	0.50120	0.1597	L	0.60904	1.88	0.30069	N	0.810202	B;B;B;B	0.30709	0.291;0.004;0.028;0.01	B;B;B;B	0.35413	0.202;0.016;0.02;0.048	T	0.57774	-0.7753	10	0.72032	D	0.01	.	10.2048	0.43107	0.0796:0.1412:0.7792:0.0	.	194;911;911;911	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	S	911;911;194;911;912;912	ENSP00000319377:P911S;ENSP00000438030:P911S;ENSP00000375655:P911S;ENSP00000375653:P912S	ENSP00000319377:P911S	P	-	1	0	NLRP12	58996318	0.848000	0.29623	0.053000	0.19242	0.001000	0.01503	2.151000	0.42263	1.460000	0.47911	-0.292000	0.09595	CCC		PASS	0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		4	15	4	15	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675741	54675741	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54675741C>T	ENST00000376591.4	-	2	340	c.209G>A	c.(208-210)gGa>gAa	p.G70E	TMC4_ENST00000301187.4_Missense_Mutation_p.G64E|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	70					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G64E(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTGCTCCTTCCTCCATCCTC	0.647																																						uc010erf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(208-210)GGA>GAA		transmembrane channel-like 4 isoform 1							114.0	109.0	110.0					19																	54675741		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54675741C>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.209G>A	19.37:g.54675741C>T	ENSP00000365776:p.Gly70Glu					TMC4_uc002qdo.2_Missense_Mutation_p.G64E	p.G70E	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			2	341	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		70			Extracellular (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.209G>A	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.276076	0.40294	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.70399	-0.48;-0.48	3.89	-5.68	0.02436	.	3.398450	0.00691	N	0.000731	T	0.50667	0.1629	N	0.20986	0.625	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.16289	0.005;0.015	T	0.29212	-1.0019	10	0.19147	T	0.46	0.1193	5.1374	0.14941	0.1408:0.3977:0.0:0.4615	.	70;64	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	E	64;70	ENSP00000301187:G64E;ENSP00000365776:G70E	ENSP00000301187:G64E	G	-	2	0	TMC4	59367553	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-2.601000	0.00892	-0.565000	0.06061	0.430000	0.28490	GGA		PASS	0.647	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	39	8	39	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744735	54744735	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54744735G>A	ENST00000396365.2	-	5	966	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.P309P|LILRA6_ENST00000440558.2_Silent_p.P309P|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Silent_p.P309P|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	309	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.P309P(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTCGCTGGGGGCCGACC	0.677																																						uc002qeu.1																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	skin(2)	2						c.(925-927)CCC>CCT		leukocyte immunoglobulin-like receptor,							31.0	42.0	38.0					19																	54744735		2201	4298	6499	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54744735G>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.927C>T	19.37:g.54744735G>A						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.P309P|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.P309P|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.P309P|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.P309P|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.P309P|LILRA6_uc010yeq.1_Silent_p.P309P|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.P170P	p.P309P	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1051	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		309			Extracellular (Potential).|Ig-like C2-type 1.			Silent	SNP	ENST00000396365.2	37	c.927C>T	CCDS42610.1																																																																																				PASS	0.677	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		15	66	15	66	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760033	54760033	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54760033G>A	ENST00000316219.5	-	4	635	c.528C>T	c.(526-528)tcC>tcT	p.S176S	LILRB5_ENST00000450632.1_Silent_p.S167S|LILRB5_ENST00000449561.2_Silent_p.S176S|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	176	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.S167S(1)|p.S176S(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGGCCTGGGATGGCCCTT	0.547																																						uc002qex.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(526-528)TCC>TCT		leukocyte immunoglobulin-like receptor,							56.0	67.0	63.0					19																	54760033		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760033G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.528C>T	19.37:g.54760033G>A						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S167S|LILRB5_uc002qey.2_Silent_p.S176S|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron	p.S176S	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	639	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		176			Extracellular (Potential).|Ig-like C2-type 2.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.528C>T	CCDS12885.1																																																																																				PASS	0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			11	36	11	36	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760446	54760447	+	Missense_Mutation	DNP	GG	GG	AA	rs376951090		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54760446_54760447GG>AA	ENST00000316219.5	-	3	367_368	c.260_261CC>TT	c.(259-261)tCC>tTT	p.S87F	LILRB5_ENST00000450632.1_Missense_Mutation_p.S87F|LILRB5_ENST00000449561.2_Missense_Mutation_p.S87F|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87F	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	87	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.S87F(4)|p.S87S(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATACACCGTGGATGGAATGTG	0.604																																						uc002qex.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|pancreas(1)	2						c.(259-261)TCC>TCT|c.(259-261)TCC>TTC		leukocyte immunoglobulin-like receptor,																																				SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760446G>A|g.chr19:54760447G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.260_261delinsAA	19.37:g.54760446_54760447delinsAA	ENSP00000320390:p.Ser87Phe					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S87S|LILRB5_uc002qey.2_Silent_p.S87S|LILRB5_uc002qez.2_Silent_p.S87S|LILRB5_uc002qfa.1_Silent_p.S77S|LILRB5_uc010yes.1_RNA|LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S87F|LILRB5_uc002qey.2_Missense_Mutation_p.S87F|LILRB5_uc002qez.2_Missense_Mutation_p.S87F|LILRB5_uc002qfa.1_Missense_Mutation_p.S77F|LILRB5_uc010yes.1_RNA	p.S87S|p.S87F	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	372|371	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		87			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Silent|Missense_Mutation	SNP	ENST00000316219.5	37	c.261C>T|c.260C>T	CCDS12885.1																																																																																				PASS	0.604	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			18|19	125|126	18	125	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54802093	54802093	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54802093G>A	ENST00000251390.3	-	6	1186	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	LILRA3_ENST00000391745.1_Silent_p.S382S|LILRA3_ENST00000391744.3_Silent_p.S301S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	365	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S365S(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACGCAGCGGGGAATCAGCTG	0.587																																						uc002qfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1093-1095)TCC>TCT		leukocyte immunoglobulin-like receptor,							111.0	99.0	103.0					19																	54802093		2194	4160	6354	SO:0001819	synonymous_variant	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802093G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1095C>T	19.37:g.54802093G>A						LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.S301S	p.S365S	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1160	-	Ovarian(34;0.19)		365			Ig-like C2-type 4.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.1095C>T	CCDS12887.1																																																																																				PASS	0.587	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			22	61	22	61	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54802698	54802698	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54802698G>A	ENST00000251390.3	-	5	834	c.743C>T	c.(742-744)tCt>tTt	p.S248F	LILRA3_ENST00000391745.1_Missense_Mutation_p.S265F|LILRA3_ENST00000391744.3_Missense_Mutation_p.S184F	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	248	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S248F(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCGGCATCAGAGCCACACTG	0.612																																						uc002qfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)TCT>TTT		leukocyte immunoglobulin-like receptor,							66.0	60.0	62.0					19																	54802698		2193	4159	6352	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802698G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.743C>T	19.37:g.54802698G>A	ENSP00000251390:p.Ser248Phe					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.S184F	p.S248F	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	808	-	Ovarian(34;0.19)		248			Ig-like C2-type 3.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.743C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306499	0.40795	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.12984	2.63;2.63;2.63	2.03	2.03	0.26663	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.841694	0.09988	N	0.730145	T	0.54319	0.1851	H	0.99425	4.56	0.09310	N	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.982	T	0.43621	-0.9380	10	0.87932	D	0	.	7.6331	0.28251	0.0:0.0:1.0:0.0	.	248;248	E7EU74;Q8N6C8	.;LIRA3_HUMAN	F	248;184;265	ENSP00000251390:S248F;ENSP00000375624:S184F;ENSP00000375625:S265F	ENSP00000251390:S248F	S	-	2	0	LILRA3	59494510	0.002000	0.14202	0.043000	0.18650	0.032000	0.12392	0.718000	0.25866	1.479000	0.48272	0.586000	0.80456	TCT		PASS	0.612	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			7	26	7	26	---	---	---	---
LENG9	94059	broad.mit.edu	37	19	54973752	54973752	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:54973752C>T	ENST00000333834.4	-	1	1142	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	342							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.E320K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		ACCAGGTATTCCTGGGCCTTG	0.632																																						uc010yez.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)GAA>AAA		leukocyte receptor cluster (LRC) member 9							69.0	62.0	64.0					19																	54973752		2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973752C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1024G>A	19.37:g.54973752C>T	ENSP00000331647:p.Glu342Lys						p.E342K	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1143	-	Ovarian(34;0.19)		342					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.1024G>A	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664213	0.47572	.	.	ENSG00000182909	ENST00000333834	T	0.41758	0.99	4.52	-0.161	0.13371	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.732848	0.13091	N	0.414498	T	0.30823	0.0777	M	0.62723	1.935	0.09310	N	1	B	0.30634	0.288	B	0.28784	0.094	T	0.19976	-1.0289	10	0.27082	T	0.32	-3.9553	1.7612	0.02992	0.164:0.4911:0.1593:0.1855	.	342	Q96B70	LENG9_HUMAN	K	342	ENSP00000331647:E342K	ENSP00000331647:E342K	E	-	1	0	LENG9	59665564	0.076000	0.21285	0.002000	0.10522	0.002000	0.02628	0.413000	0.21148	-0.104000	0.12154	-1.083000	0.02208	GAA		PASS	0.632	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		8	28	8	28	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55098690	55098690	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55098690G>A	ENST00000251377.3	+	9	1462	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	LILRA2_ENST00000391737.1_Silent_p.Q414Q|LILRA2_ENST00000391738.3_Silent_p.Q443Q|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.Q426Q|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|CTB-83J4.2_ENST00000596330.1_lincRNA			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	443					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Q426Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AACACCCCCAGGATTACACAG	0.592																																						uc002qgg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1327-1329)CAG>CAA		leukocyte immunoglobulin-like receptor,							130.0	111.0	118.0					19																	55098690		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55098690G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1329G>A	19.37:g.55098690G>A						LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Silent_p.Q426Q|LILRA2_uc010ero.2_Silent_p.Q414Q|LILRA2_uc010yfg.1_Intron	p.Q443Q	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	8	1418	+			443			Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.1329G>A	CCDS46179.1																																																																																				PASS	0.592	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			9	73	9	73	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143641	55143641	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55143641C>T	ENST00000396331.1	+	6	971	c.614C>T	c.(613-615)cCc>cTc	p.P205L	LILRB1_ENST00000448689.1_Missense_Mutation_p.P205L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205L|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P205L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCGAACTCTCCCTATGAGTGG	0.607										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(613-615)CCC>CTC		leukocyte immunoglobulin-like receptor,							158.0	155.0	156.0					19																	55143641		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143641C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.614C>T	19.37:g.55143641C>T	ENSP00000379622:p.Pro205Leu	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P205L|LILRB1_uc002qgk.2_Missense_Mutation_p.P205L|LILRB1_uc002qgm.2_Missense_Mutation_p.P205L|LILRB1_uc010erq.2_Missense_Mutation_p.P205L|LILRB1_uc010err.2_RNA	p.P205L	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	954	+			205			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.614C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.662	0.900803	0.17686	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	1.57	1.57	0.23409	Immunoglobulin-like fold (1);	0.431079	0.19689	N	0.108302	T	0.41190	0.1148	M	0.85041	2.73	0.09310	N	1	D;P;D;P;D	0.59357	0.975;0.875;0.972;0.863;0.985	P;B;P;B;P	0.54460	0.753;0.303;0.467;0.25;0.615	T	0.20240	-1.0281	10	0.87932	D	0	.	6.6481	0.22947	0.0:1.0:0.0:0.0	.	205;205;205;205;205	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	L	205;205;205;205;205;205;205;205;241;205;205	ENSP00000379614:P205L;ENSP00000391514:P205L;ENSP00000409968:P205L;ENSP00000379622:P205L;ENSP00000379618:P205L;ENSP00000315997:P205L;ENSP00000405243:P205L;ENSP00000379623:P205L;ENSP00000395004:P241L;ENSP00000379610:P205L;ENSP00000379608:P205L	ENSP00000315997:P205L	P	+	2	0	LILRB1	59835453	0.002000	0.14202	0.003000	0.11579	0.015000	0.08874	1.424000	0.34848	1.193000	0.43086	0.184000	0.17185	CCC		PASS	0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			23	43	23	43	---	---	---	---
KIR3DL3	115653	broad.mit.edu	37	19	55247337	55247337	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55247337G>A	ENST00000291860.1	+	7	1123	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	KIR2DL3_ENST00000434419.2_5'Flank|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000342376.3_5'Flank	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	369						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E369K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGTGAACAGGGAGGTAGGTGC	0.552																																						uc002qgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1105-1107)GAG>AAG		killer cell immunoglobulin-like receptor, three							98.0	110.0	106.0					19																	55247337		1926	3921	5847	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247337G>A	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1105G>A	19.37:g.55247337G>A	ENSP00000291860:p.Glu369Lys					KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_5'Flank|KIR2DL3_uc002qgy.2_5'Flank|KIR2DL3_uc010erw.1_5'Flank	p.E369K	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1123	+			369			Cytoplasmic (Potential).		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.1105G>A	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	g	9.815	1.184342	0.21870	.	.	ENSG00000242019	ENST00000291860	T	0.00475	7.16	0.929	-0.625	0.11548	.	13.544100	0.00817	U	0.001543	T	0.00906	0.0030	M	0.91972	3.26	0.09310	N	1	P	0.37663	0.604	B	0.40038	0.317	T	0.47459	-0.9116	10	0.87932	D	0	.	4.3733	0.11258	0.0:0.4315:0.5684:0.0	.	369	Q8N743	KI3L3_HUMAN	K	369	ENSP00000291860:E369K	ENSP00000291860:E369K	E	+	1	0	KIR3DL3	59939149	0.003000	0.15002	0.006000	0.13384	0.020000	0.10135	0.011000	0.13264	-0.121000	0.11787	0.184000	0.17185	GAG		PASS	0.552	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		34	55	34	55	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55255278	55255278	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55255278G>A	ENST00000342376.3	+	4	437	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	KIR2DL3_ENST00000434419.2_Missense_Mutation_p.G136S|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	136					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G136S(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGCCCAGCCGGGCCCCACGGT	0.572																																						uc002qgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(406-408)GGC>AGC		killer cell immunoglobulin-like receptor, two							51.0	61.0	58.0					19																	55255278		1225	2399	3624	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55255278G>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.406G>A	19.37:g.55255278G>A	ENSP00000342215:p.Gly136Ser					KIR2DL3_uc002qgx.2_Missense_Mutation_p.G136S|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Missense_Mutation_p.G136S|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G46S|KIR2DL3_uc002qha.1_Intron	p.G136S	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	424	+			136			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.406G>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134283	0.37630	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00675	5.88;5.88	1.28	0.11	0.14611	Immunoglobulin subtype (2);Immunoglobulin-like fold (2);	.	.	.	.	T	0.01156	0.0038	L	0.38838	1.175	0.09310	N	1	B;P;P;P	0.44380	0.227;0.834;0.655;0.655	B;P;P;P	0.49361	0.268;0.608;0.605;0.605	T	0.51834	-0.8655	9	0.72032	D	0.01	.	5.2678	0.15609	0.0:0.3682:0.6318:0.0	.	136;136;136;136	E3NZD7;P43627;P43628;E3NZD8	.;KI2L2_HUMAN;KI2L3_HUMAN;.	S	136	ENSP00000342215:G136S;ENSP00000415758:G136S	ENSP00000342215:G136S	G	+	1	0	KIR2DL3	59947090	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	0.044000	0.13992	0.095000	0.17434	0.184000	0.17185	GGC		PASS	0.572	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			25	29	25	29	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55329785	55329785	+	Missense_Mutation	SNP	C	C	T	rs199903142		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55329785C>T	ENST00000391728.4	+	3	119	c.86C>T	c.(85-87)cCc>cTc	p.P29L	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P29L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P29L|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P29L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P29L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	29					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P29L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGGACAAACCCTTCCTGTCT	0.557																																						uc002qhk.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(85-87)CCC>CTC		killer cell immunoglobulin-like receptor, three							41.0	65.0	57.0					19																	55329785		2061	4027	6088	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55329785C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.86C>T	19.37:g.55329785C>T	ENSP00000375608:p.Pro29Leu					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.P29L	p.P29L	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	149	+			29			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.86C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660456	0.29515	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	1.41	1.41	0.22369	Immunoglobulin-like fold (1);	0.479441	0.15206	U	0.274744	T	0.44477	0.1295	M	0.86028	2.79	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10730	-1.0617	10	0.87932	D	0	.	6.2675	0.20936	0.0:1.0:0.0:0.0	.	29;29	F6QF33;P43629	.;KI3L1_HUMAN	L	29;29;29;7;29;29	ENSP00000384528:P29L;ENSP00000443350:P29L;ENSP00000442355:P29L;ENSP00000375608:P29L;ENSP00000326868:P29L	ENSP00000326868:P29L	P	+	2	0	KIR3DL1	60021597	0.006000	0.16342	0.005000	0.12908	0.025000	0.11179	1.023000	0.30065	1.111000	0.41721	0.184000	0.17185	CCC		PASS	0.557	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		33	20	33	20	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55329913	55329913	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55329913C>T	ENST00000391728.4	+	3	247	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.H72Y|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.H72Y|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.H72Y|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.H72Y	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	72	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.H72Y(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCCATCTTCCATGGCAGAAT	0.502																																						uc002qhk.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(214-216)CAT>TAT		killer cell immunoglobulin-like receptor, three							80.0	99.0	92.0					19																	55329913		2171	4116	6287	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55329913C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.214C>T	19.37:g.55329913C>T	ENSP00000375608:p.His72Tyr					KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.H14Y|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Missense_Mutation_p.H14Y|KIR3DL1_uc002qhl.3_Missense_Mutation_p.H72Y	p.H72Y	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	277	+			72			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.214C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.030	-1.341994	0.01277	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.00691	5.84;5.84;5.84;5.84;5.84	1.06	-0.143	0.13444	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	52.731100	0.00892	U	0.002242	T	0.00815	0.0027	N	0.24115	0.695	0.09310	N	1	B;B;B	0.31435	0.0;0.323;0.0	B;B;B	0.34991	0.001;0.193;0.001	T	0.46205	-0.9208	10	0.23302	T	0.38	.	4.4893	0.11806	0.0:0.752:0.0:0.248	.	72;72;72	Q15702;F6QF33;P43629	.;.;KI3L1_HUMAN	Y	72;72;72;50;72;72	ENSP00000384528:H72Y;ENSP00000443350:H72Y;ENSP00000442355:H72Y;ENSP00000375608:H72Y;ENSP00000326868:H72Y	ENSP00000326868:H72Y	H	+	1	0	KIR3DL1	60021725	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.431000	0.21444	-0.064000	0.13043	-1.176000	0.01726	CAT		PASS	0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		11	46	11	46	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55349152	55349152	+	Intron	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55349152G>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.G64G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACAGAGAGGGGAAGTTTAACA	0.512																																						uc002qhm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)GGG>GGA		killer cell immunoglobulin-like receptor, two							301.0	247.0	266.0					19																	55349152		2171	4161	6332	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55349152G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12619G>A	19.37:g.55349152G>A						KIR2DS4_uc010yfj.1_Silent_p.G57G|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.G64G|KIR2DS4_uc002qhn.1_Silent_p.G11G	p.G64G	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	238	+			64			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000402254.2	37	c.192G>A																																																																																					PASS	0.512	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		35	174	35	174	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55396865	55396865	+	Missense_Mutation	SNP	C	C	G	rs372465584		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55396865C>G	ENST00000355524.3	+	3	299	c.289C>G	c.(289-291)Cgc>Ggc	p.R97G	FCAR_ENST00000345937.4_Missense_Mutation_p.R97G|FCAR_ENST00000391724.3_Missense_Mutation_p.R85G|FCAR_ENST00000391725.3_Missense_Mutation_p.R97G|FCAR_ENST00000469767.1_Missense_Mutation_p.R97G|FCAR_ENST00000391723.3_Missense_Mutation_p.R85G|FCAR_ENST00000359272.4_Missense_Mutation_p.R85G|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391726.3_Missense_Mutation_p.R85G|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	97	Ig-like C2-type 1.				immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R97G(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAAGGCAGGGCGCTATCAGTG	0.502																																						uc002qhr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(289-291)CGC>GGC		Fc alpha receptor isoform a precursor							96.0	83.0	87.0					19																	55396865		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55396865C>G	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.289C>G	19.37:g.55396865C>G	ENSP00000347714:p.Arg97Gly					FCAR_uc002qhq.2_Missense_Mutation_p.R97G|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.R70G|FCAR_uc010esi.1_Missense_Mutation_p.R70G|FCAR_uc002qhu.1_Missense_Mutation_p.R97G|FCAR_uc002qhv.1_Missense_Mutation_p.R97G|FCAR_uc002qhw.1_Missense_Mutation_p.R85G|FCAR_uc002qhx.1_Missense_Mutation_p.R85G|FCAR_uc002qhy.1_Missense_Mutation_p.R85G|FCAR_uc002qhz.1_Missense_Mutation_p.R85G|FCAR_uc002qia.1_Intron	p.R97G	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	3	486	+			97			Extracellular (Potential).|Ig-like C2-type 1.		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.289C>G	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304403	0.40795	.	.	ENSG00000186431	ENST00000433231;ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000359272;ENST00000391723;ENST00000391724	T;T;T;T;T;T;T	0.13538	2.72;2.58;2.58;2.72;2.58;2.58;2.58	3.19	-4.39	0.03611	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.547465	0.14105	N	0.341119	T	0.27900	0.0687	M	0.80982	2.52	0.09310	N	1	D;D;D;D;D;D;P;D	0.76494	0.991;0.999;0.99;0.982;0.991;0.979;0.916;0.999	P;D;D;P;P;P;P;P	0.65323	0.904;0.934;0.911;0.896;0.873;0.796;0.668;0.885	T	0.04203	-1.0969	10	0.72032	D	0.01	.	6.3099	0.21159	0.6567:0.2353:0.0:0.108	.	85;85;85;85;97;97;97;97	Q92588;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071;P24071-4	.;.;.;.;.;.;FCAR_HUMAN;.	G	97;85;97;97;97;85;85;85	ENSP00000375606:R85G;ENSP00000347714:R97G;ENSP00000375605:R97G;ENSP00000338257:R97G;ENSP00000352218:R85G;ENSP00000375603:R85G;ENSP00000375604:R85G	ENSP00000338257:R97G	R	+	1	0	FCAR	60088677	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.276000	0.02815	-0.733000	0.04850	0.563000	0.77884	CGC		PASS	0.502	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		15	38	15	38	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55417961	55417961	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55417961G>A	ENST00000291890.4	+	3	189	c.151G>A	c.(151-153)Gga>Aga	p.G51R	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.G51R|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.G39R|NCR1_ENST00000338835.5_Missense_Mutation_p.G51R|NCR1_ENST00000447255.1_Missense_Mutation_p.G51R	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	51	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.G51R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGTTGCCAGGGAAATTATGG	0.488																																						uc002qib.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(151-153)GGA>AGA		natural cytotoxicity triggering receptor 1							67.0	69.0	68.0					19																	55417961		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55417961G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.151G>A	19.37:g.55417961G>A	ENSP00000291890:p.Gly51Arg					NCR1_uc002qic.2_Missense_Mutation_p.G51R|NCR1_uc002qie.2_Missense_Mutation_p.G51R|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	p.G51R	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	189	+			51			Ig-like 1.|Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.151G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438640	0.43326	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.12672	2.66;2.66;2.66	3.87	3.87	0.44632	Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000122	T	0.42245	0.1194	M	0.90705	3.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.49418	-0.8942	10	0.87932	D	0	.	11.6453	0.51257	0.0:0.0:1.0:0.0	.	51;51;51	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	R	51	ENSP00000291890:G51R;ENSP00000404434:G51R;ENSP00000339515:G51R	ENSP00000291890:G51R	G	+	1	0	NCR1	60109773	0.998000	0.40836	0.894000	0.35097	0.031000	0.12232	3.290000	0.51755	2.463000	0.83235	0.650000	0.86243	GGA		PASS	0.488	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			7	60	7	60	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451163	55451164	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55451163_55451164GG>AA	ENST00000590030.1	-	3	1063_1064	c.1023_1024CC>TT	c.(1021-1026)gaCCaa>gaTTaa	p.Q342*	NLRP7_ENST00000592784.1_Nonsense_Mutation_p.Q342*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.Q370*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.Q342*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.Q342*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.Q342*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.Q342*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	342	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.Q342*(4)|p.D341D(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGCATGGCTTGGTCCTCGTCTC	0.614																																						uc002qih.3																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1024-1026)CAA>TAA|c.(1021-1023)GAC>GAT		NACHT, leucine rich repeat and PYD containing 7																																				SO:0001587	stop_gained	199713						ATP binding	g.chr19:55451163G>A|g.chr19:55451164G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1023_1024delinsAA	19.37:g.55451163_55451164delinsAA	ENSP00000465520:p.Gln342*					NLRP7_uc002qig.3_Nonsense_Mutation_p.Q342*|NLRP7_uc002qii.3_Nonsense_Mutation_p.Q342*|NLRP7_uc010esk.2_Nonsense_Mutation_p.Q342*|NLRP7_uc010esl.2_Nonsense_Mutation_p.Q370*|NLRP7_uc002qig.3_Silent_p.D341D|NLRP7_uc002qii.3_Silent_p.D341D|NLRP7_uc010esk.2_Silent_p.D341D|NLRP7_uc010esl.2_Silent_p.D369D	p.Q342*|p.D341D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1100|1099	-			342|341			NACHT.		E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation|Silent	SNP	ENST00000590030.1	37	c.1024C>T|c.1023C>T	CCDS33109.1																																																																																				PASS	0.614	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6|7	14|13	6	13	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55493720	55493720	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55493720G>A	ENST00000543010.1	+	6	797	c.654G>A	c.(652-654)ggG>ggA	p.G218G	NLRP2_ENST00000391721.4_Silent_p.G194G|NLRP2_ENST00000538819.1_Silent_p.G194G|NLRP2_ENST00000537859.1_Silent_p.G196G|NLRP2_ENST00000448584.2_Silent_p.G218G|NLRP2_ENST00000427260.2_Silent_p.G195G|NLRP2_ENST00000263437.6_Silent_p.G215G|NLRP2_ENST00000339757.7_Silent_p.G196G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	218	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.G218G(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGGCCTTGGGAAAACCACGC	0.547																																						uc002qij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(652-654)GGG>GGA		NLR family, pyrin domain containing 2							65.0	65.0	65.0					19																	55493720		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493720G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.654G>A	19.37:g.55493720G>A						NLRP2_uc010yfp.1_Silent_p.G195G|NLRP2_uc010esn.2_Silent_p.G194G|NLRP2_uc010eso.2_Silent_p.G215G|NLRP2_uc010esp.2_Silent_p.G196G	p.G218G	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	740	+			218			NACHT.|ATP (Potential).		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.654G>A	CCDS12913.1																																																																																				PASS	0.547	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		21	31	21	31	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55686339	55686339	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:55686339G>A	ENST00000354308.3	-	7	1106	c.737C>T	c.(736-738)tCc>tTc	p.S246F	SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.S246F|SYT5_ENST00000590851.1_Missense_Mutation_p.S242F	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	246					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S246F(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATAGCGGAGGGAGAAGCAGAT	0.597																																						uc002qjm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)TCC>TTC		synaptotagmin V							85.0	83.0	83.0					19																	55686339		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686339G>A	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.737C>T	19.37:g.55686339G>A	ENSP00000346265:p.Ser246Phe					SYT5_uc002qjp.2_Missense_Mutation_p.S242F|SYT5_uc002qjn.1_Missense_Mutation_p.S246F|SYT5_uc002qjo.1_Missense_Mutation_p.S245F	p.S246F	NM_003180	NP_003171	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1797	-			246			Cytoplasmic (Potential).		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.737C>T	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.304866	0.81247	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.74106	-0.81;-0.81	3.87	2.71	0.32032	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	H	0.96365	3.81	0.54753	D	0.999981	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.945;0.998;0.981	D	0.91757	0.5417	10	0.87932	D	0	.	12.3805	0.55303	0.0:0.1723:0.8277:0.0	.	242;245;246	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	F	246;246;242	ENSP00000442896:S246F;ENSP00000346265:S246F	ENSP00000346265:S246F	S	-	2	0	SYT5	60378151	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.706000	0.84615	2.116000	0.64780	0.305000	0.20034	TCC		PASS	0.597	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		7	20	7	20	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56220399	56220399	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56220399G>A	ENST00000332836.2	-	9	2882	c.2855C>T	c.(2854-2856)tCt>tTt	p.S952F	CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	952						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S952F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCAAAGCCAGATTTGTGCAG	0.383																																						uc002qly.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(2854-2856)TCT>TTT		NLR family, pyrin domain containing 9							76.0	77.0	77.0					19																	56220399		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56220399G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2855C>T	19.37:g.56220399G>A	ENSP00000331857:p.Ser952Phe						p.S952F	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	9	2883	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	952					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2855C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493840	0.26774	.	.	ENSG00000185792	ENST00000332836	T	0.53640	0.61	2.65	-3.06	0.05379	.	.	.	.	.	T	0.48059	0.1479	L	0.47716	1.5	0.09310	N	1	D	0.55172	0.97	P	0.56916	0.809	T	0.43376	-0.9395	9	0.51188	T	0.08	.	5.5047	0.16848	0.0:0.1991:0.2739:0.527	.	952	Q7RTR0	NALP9_HUMAN	F	952	ENSP00000331857:S952F	ENSP00000331857:S952F	S	-	2	0	NLRP9	60912211	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.001000	0.13038	-0.503000	0.06586	0.655000	0.94253	TCT		PASS	0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		8	32	8	32	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56297027	56297027	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56297027C>T	ENST00000589093.1	-	10	3159	c.3066G>A	c.(3064-3066)atG>atA	p.M1022I	NLRP11_ENST00000589824.2_Missense_Mutation_p.M968I|NLRP11_ENST00000592953.1_Missense_Mutation_p.M923I|NLRP11_ENST00000360133.3_Missense_Mutation_p.M968I|NLRP11_ENST00000443188.1_Missense_Mutation_p.M1022I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1022							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.M1022I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTGACGTTCTCATGGCTGCAG	0.378																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3064-3066)ATG>ATA		NLR family, pyrin domain containing 11							94.0	92.0	92.0					19																	56297027		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56297027C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.3066G>A	19.37:g.56297027C>T	ENSP00000466285:p.Met1022Ile					NLRP11_uc002qlz.2_Missense_Mutation_p.M869I|NLRP11_uc002qmb.2_Missense_Mutation_p.M923I|NLRP11_uc002qmc.2_RNA	p.M1022I	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	12	3777	-		Colorectal(82;0.0002)	1022					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.3066G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	4.726	0.134912	0.09032	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.73363	-0.74;-0.69	1.27	0.206	0.15208	.	.	.	.	.	T	0.48874	0.1524	N	0.08118	0	0.09310	N	1	B;B	0.18461	0.016;0.028	B;B	0.06405	0.001;0.002	T	0.35176	-0.9799	9	0.49607	T	0.09	.	3.5615	0.07884	0.0:0.7361:0.0:0.2639	.	1022;968	P59045;P59045-2	NAL11_HUMAN;.	I	1022;968	ENSP00000409898:M1022I;ENSP00000353251:M968I	ENSP00000353251:M968I	M	-	3	0	NLRP11	60988839	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.262000	0.18460	0.119000	0.18210	-0.253000	0.11424	ATG		PASS	0.378	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		14	18	14	18	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56329493	56329493	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56329493C>T	ENST00000589093.1	-	2	141	c.48G>A	c.(46-48)gaG>gaA	p.E16E	NLRP11_ENST00000589824.2_Silent_p.E16E|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000360133.3_Silent_p.E16E|NLRP11_ENST00000443188.1_Silent_p.E16E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	16	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.E16E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACTGAGATTCTCTAGATACC	0.428																																						uc010ygf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(46-48)GAG>GAA		NLR family, pyrin domain containing 11							84.0	77.0	80.0					19																	56329493		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56329493C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.48G>A	19.37:g.56329493C>T						NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA	p.E16E	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	759	-		Colorectal(82;0.0002)	16			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.48G>A	CCDS12935.1																																																																																				PASS	0.428	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		12	21	12	21	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56363641	56363641	+	Silent	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56363641A>G	ENST00000301295.6	+	2	617	c.195A>G	c.(193-195)gaA>gaG	p.E65E	NLRP4_ENST00000346986.5_Silent_p.E65E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	65	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E65E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTATGAAGAACAACAAGCTT	0.438																																						uc002qmd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(193-195)GAA>GAG		NLR family, pyrin domain containing 4							82.0	82.0	82.0					19																	56363641		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56363641A>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.195A>G	19.37:g.56363641A>G							p.E65E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	617	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	65			DAPIN.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.195A>G	CCDS12936.1																																																																																				PASS	0.438	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		15	45	15	45	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369181	56369181	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56369181C>T	ENST00000301295.6	+	3	844	c.422C>T	c.(421-423)cCc>cTc	p.P141L	NLRP4_ENST00000587891.1_Missense_Mutation_p.P66L|NLRP4_ENST00000346986.5_Missense_Mutation_p.P141L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	141					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P141L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTTTTTGCTCCCAAGGAAGCT	0.488																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(421-423)CCC>CTC		NLR family, pyrin domain containing 4							137.0	126.0	130.0					19																	56369181		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369181C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.422C>T	19.37:g.56369181C>T	ENSP00000301295:p.Pro141Leu					NLRP4_uc002qmf.2_Missense_Mutation_p.P66L|NLRP4_uc010etf.2_5'UTR	p.P141L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	844	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	141					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.422C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557728	0.45590	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.76448	-1.02;-0.97	3.45	1.18	0.20946	.	.	.	.	.	T	0.74824	0.3767	N	0.24115	0.695	0.09310	N	1	D;D	0.63880	0.993;0.974	P;P	0.59643	0.861;0.66	T	0.63506	-0.6622	9	0.62326	D	0.03	.	8.0561	0.30606	0.4422:0.5578:0.0:0.0	.	66;141	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	L	141	ENSP00000301295:P141L;ENSP00000344787:P141L	ENSP00000301295:P141L	P	+	2	0	NLRP4	61060993	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	1.185000	0.32065	0.402000	0.25451	0.655000	0.94253	CCC		PASS	0.488	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		20	78	20	78	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56369416C>T	ENST00000301295.6	+	3	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_ENST00000587891.1_Silent_p.I144I|NLRP4_ENST00000346986.5_Silent_p.I219I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	219	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537																																						uc002qmd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(655-657)ATC>ATT		NLR family, pyrin domain containing 4							82.0	82.0	82.0					19																	56369416		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369416C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.657C>T	19.37:g.56369416C>T						NLRP4_uc002qmf.2_Silent_p.I144I|NLRP4_uc010etf.2_Silent_p.I50I	p.I219I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1079	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	219			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.657C>T	CCDS12936.1																																																																																				PASS	0.537	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		30	68	30	68	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370083	56370083	+	Missense_Mutation	SNP	G	G	A	rs374627097		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56370083G>A	ENST00000301295.6	+	3	1746	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	NLRP4_ENST00000587891.1_Missense_Mutation_p.G367R|NLRP4_ENST00000346986.5_Missense_Mutation_p.G442R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	442	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G442R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGTACGGGGAGCGTGA	0.532																																						uc002qmd.3																			2	Substitution - Missense(2)	p.G442R(1)	lung(1)|pancreas(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1324-1326)GGG>AGG		NLR family, pyrin domain containing 4		G	ARG/GLY	0,4406		0,0,2203	133.0	128.0	130.0		1324	-4.0	0.0	19		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP4	NM_134444.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	442/995	56370083	1,13005	2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370083G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1324G>A	19.37:g.56370083G>A	ENSP00000301295:p.Gly442Arg					NLRP4_uc002qmf.2_Missense_Mutation_p.G367R|NLRP4_uc010etf.2_Missense_Mutation_p.G273R	p.G442R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1746	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	442			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1324G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	0.367	-0.936217	0.02340	0.0	1.16E-4	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.82711	-1.64;-1.64	4.1	-3.97	0.04094	.	.	.	.	.	T	0.54078	0.1836	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.32101	0.356;0.028;0.007	B;B;B	0.25987	0.065;0.007;0.001	T	0.50783	-0.8787	9	0.12103	T	0.63	.	6.8269	0.23889	0.2649:0.2815:0.4536:0.0	.	442;367;442	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	R	442	ENSP00000301295:G442R;ENSP00000344787:G442R	ENSP00000301295:G442R	G	+	1	0	NLRP4	61061895	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.640000	0.05440	-1.148000	0.02847	-0.302000	0.09304	GGG		PASS	0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		7	58	7	58	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56422029	56422029	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56422029G>T	ENST00000342929.3	-	6	2181	c.2182C>A	c.(2182-2184)Ctg>Atg	p.L728M	NLRP13_ENST00000588751.1_Missense_Mutation_p.L728M	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	728							ATP binding (GO:0005524)	p.L728M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTCATGCAGATTCTCATTT	0.453																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2182-2184)CTG>ATG		NACHT, leucine rich repeat and PYD containing							197.0	171.0	180.0					19																	56422029		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56422029G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2182C>A	19.37:g.56422029G>T	ENSP00000343891:p.Leu728Met						p.L728M	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2207	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	728			LRR 1.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2182C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638177	0.14386	.	.	ENSG00000173572	ENST00000342929	T	0.75704	-0.96	2.96	-5.91	0.02269	.	.	.	.	.	T	0.65091	0.2658	M	0.72894	2.215	0.09310	N	1	P	0.42649	0.786	B	0.40228	0.323	T	0.55198	-0.8178	9	0.54805	T	0.06	.	2.509	0.04652	0.1716:0.1236:0.4228:0.282	.	728	Q86W25	NAL13_HUMAN	M	728	ENSP00000343891:L728M	ENSP00000343891:L728M	L	-	1	2	NLRP13	61113841	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.874000	0.01636	-3.481000	0.00155	-1.262000	0.01453	CTG		PASS	0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		14	59	14	59	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423076	56423076	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56423076G>A	ENST00000342929.3	-	5	2106	c.2107C>T	c.(2107-2109)Ctg>Ttg	p.L703L	NLRP13_ENST00000588751.1_Silent_p.L703L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	703							ATP binding (GO:0005524)	p.L703L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACTCACTCCAGAATTTCCAAG	0.393																																						uc010ygg.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2107-2109)CTG>TTG		NACHT, leucine rich repeat and PYD containing							78.0	88.0	84.0					19																	56423076		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423076G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2107C>T	19.37:g.56423076G>A							p.L703L	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	2132	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	703					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.2107C>T	CCDS33119.1																																																																																				PASS	0.393	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		18	58	18	58	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423566	56423566	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56423566G>A	ENST00000342929.3	-	5	1616	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	NLRP13_ENST00000588751.1_Silent_p.F539F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	539	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.F539F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAAACTCCTGGAAACTTAGGT	0.453																																						uc010ygg.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1615-1617)TTC>TTT		NACHT, leucine rich repeat and PYD containing							99.0	105.0	103.0					19																	56423566		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423566G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1617C>T	19.37:g.56423566G>A							p.F539F	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1642	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	539			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1617C>T	CCDS33119.1																																																																																				PASS	0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		41	43	41	43	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56423896	56423896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56423896C>T	ENST00000342929.3	-	5	1286	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*	NLRP13_ENST00000588751.1_Nonsense_Mutation_p.W429*	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.W429*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACATACGGTCCAACACACCA	0.453																																						uc010ygg.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1285-1287)TGG>TGA		NACHT, leucine rich repeat and PYD containing							94.0	96.0	96.0					19																	56423896		2203	4300	6503	SO:0001587	stop_gained	126204						ATP binding	g.chr19:56423896C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1287G>A	19.37:g.56423896C>T	ENSP00000343891:p.Trp429*						p.W429*	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1312	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	429			NACHT.		Q7RTR5	Nonsense_Mutation	SNP	ENST00000342929.3	37	c.1287G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849772	0.97023	.	.	ENSG00000173572	ENST00000342929	.	.	.	2.87	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8437	0.41015	0.0:1.0:0.0:0.0	.	.	.	.	X	429	.	ENSP00000343891:W429X	W	-	3	0	NLRP13	61115708	0.981000	0.34729	0.197000	0.23402	0.573000	0.36030	4.150000	0.58098	1.585000	0.49928	0.591000	0.81541	TGG		PASS	0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		10	63	10	63	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56515202	56515202	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56515202C>T	ENST00000390649.3	+	2	183	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	61	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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.S61S(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)		TCACCTTTTCCAGCTACGGGC	0.428																																						uc002qmj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(181-183)TCC>TCT		NACHT, LRR and PYD containing protein 5							116.0	108.0	111.0					19																	56515202		1863	4107	5970	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515202C>T	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.183C>T	19.37:g.56515202C>T						NLRP5_uc002qmi.2_Silent_p.S61S	p.S61S	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	183	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	61			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.183C>T	CCDS12938.1																																																																																				PASS	0.428	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		20	73	20	73	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56569657	56569657	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56569657C>T	ENST00000390649.3	+	14	3351	c.3351C>T	c.(3349-3351)gcC>gcT	p.A1117A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1117					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.A1117A(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)		TCTCCTTGGCCCTTTCCTGCA	0.517																																						uc002qmj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(3349-3351)GCC>GCT		NACHT, LRR and PYD containing protein 5							168.0	164.0	165.0					19																	56569657		2046	4199	6245	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56569657C>T	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.3351C>T	19.37:g.56569657C>T						NLRP5_uc002qmi.2_Silent_p.A1098A	p.A1117A	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	14	3351	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1117					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.3351C>T	CCDS12938.1																																																																																				PASS	0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		31	37	31	37	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701471	56701472	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56701471_56701472GG>AA	ENST00000586855.2	-	5	1525_1526	c.1212_1213CC>TT	c.(1210-1215)gtCCac>gtTTac	p.H405Y	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H405Y			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	405					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H405Y(4)|p.V404V(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCGCCAGTGTGGACTCGCTGGT	0.594																																						uc010ygh.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|skin(1)	2						c.(1213-1215)CAC>TAC|c.(1210-1212)GTC>GTT		zinc finger and SCAN domain containing 5B																																				SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701471G>A|g.chr19:56701472G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1212_1213delinsAA	19.37:g.56701471_56701472delinsAA	ENSP00000466072:p.His405Tyr						p.H405Y|p.V404V	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1213|1212	-			405|404			C2H2-type 2.			Missense_Mutation|Silent	SNP	ENST00000586855.2	37	c.1213C>T|c.1212C>T	CCDS46203.1																																																																																				PASS	0.594	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		13	31|32	13	31	---	---	---	---
ZNF583	147949	broad.mit.edu	37	19	56935574	56935574	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56935574G>A	ENST00000333201.9	+	5	1757	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	ZNF583_ENST00000291598.7_Missense_Mutation_p.G516E|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	516					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.G516E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATTCATACTGGAGAAAGACCC	0.383																																						uc010ygl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1546-1548)GGA>GAA		zinc finger protein 583							105.0	109.0	108.0					19																	56935574		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935574G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1547G>A	19.37:g.56935574G>A	ENSP00000388502:p.Gly516Glu					ZNF583_uc002qnc.2_Missense_Mutation_p.G516E|ZNF583_uc010ygm.1_Missense_Mutation_p.G516E	p.G516E	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1712	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	516					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1547G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774702	0.70107	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.25749	1.78;1.78	4.65	3.61	0.41365	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000570	T	0.41143	0.1146	L	0.52206	1.635	0.40975	D	0.984735	D	0.89917	1.0	D	0.97110	1.0	T	0.19745	-1.0296	9	.	.	.	.	10.3956	0.44198	0.0933:0.0:0.9067:0.0	.	516	Q96ND8	ZN583_HUMAN	E	516	ENSP00000291598:G516E;ENSP00000388502:G516E	.	G	+	2	0	ZNF583	61627386	0.011000	0.17503	0.012000	0.15200	0.996000	0.88848	1.451000	0.35145	1.326000	0.45319	0.655000	0.94253	GGA		PASS	0.383	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		33	49	33	49	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56969570	56969570	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56969570C>T	ENST00000504904.3	-	6	926	c.207G>A	c.(205-207)ggG>ggA	p.G69G	ZNF667_ENST00000292069.6_Silent_p.G69G|ZNF667_ENST00000591790.1_Silent_p.G69G|ZNF667_ENST00000342634.3_Silent_p.G162G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.G69G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGGGTGCTTTCCCTTTCTCCA	0.493																																						uc002qnd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(205-207)GGG>GGA		zinc finger protein 667							119.0	99.0	106.0					19																	56969570		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56969570C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.207G>A	19.37:g.56969570C>T						ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.G69G|ZNF667_uc010etm.2_5'UTR	p.G69G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	4	369	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	69			KRAB.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.207G>A	CCDS12944.1																																																																																				PASS	0.493	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		12	40	12	40	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56973716	56973716	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:56973716G>A	ENST00000504904.3	-	4	743	c.24C>T	c.(22-24)tcC>tcT	p.S8S	ZNF667_ENST00000292069.6_Silent_p.S8S|ZNF667_ENST00000591790.1_Silent_p.S8S|ZNF667_ENST00000342634.3_Silent_p.S101S			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	8					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.S8S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCTTGGATTTGGATTTCCCCC	0.537																																						uc002qnd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(22-24)TCC>TCT		zinc finger protein 667							250.0	203.0	219.0					19																	56973716		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56973716G>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.24C>T	19.37:g.56973716G>A						ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.S8S|ZNF667_uc010etm.2_5'UTR	p.S8S	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	2	186	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	8					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.24C>T	CCDS12944.1																																																																																				PASS	0.537	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		46	77	46	77	---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57035792	57035792	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57035792C>T	ENST00000308031.5	+	5	489	c.356C>T	c.(355-357)tCc>tTc	p.S119F	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	119					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.S119F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CTTGAGTGTTCCACTTTTGAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(355-357)TCC>TTC		zinc finger protein 471							86.0	82.0	83.0					19																	57035792		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035792C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.356C>T	19.37:g.57035792C>T	ENSP00000309161:p.Ser119Phe						p.S119F	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	489	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	119					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.356C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173794	0.21704	.	.	ENSG00000196263	ENST00000308031	T	0.06528	3.29	3.95	1.61	0.23674	.	.	.	.	.	T	0.05456	0.0144	L	0.46157	1.445	0.09310	N	1	P	0.42409	0.779	B	0.39185	0.293	T	0.26467	-1.0102	9	0.08837	T	0.75	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	F	119	ENSP00000309161:S119F	ENSP00000309161:S119F	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC		PASS	0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		15	27	15	27	---	---	---	---
ZNF471	57573	broad.mit.edu	37	19	57035940	57035940	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57035940C>T	ENST00000308031.5	+	5	637	c.504C>T	c.(502-504)atC>atT	p.I168I	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	168					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.I168I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAAATGTATCCATCTGGAAA	0.299																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(502-504)ATC>ATT		zinc finger protein 471							41.0	41.0	41.0					19																	57035940		2203	4299	6502	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035940C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.504C>T	19.37:g.57035940C>T							p.I168I	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	637	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	168					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Silent	SNP	ENST00000308031.5	37	c.504C>T	CCDS12945.1																																																																																				PASS	0.299	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		10	17	10	17	---	---	---	---
ZFP28	140612	broad.mit.edu	37	19	57060384	57060384	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57060384G>A	ENST00000301318.3	+	5	652	c.581G>A	c.(580-582)gGa>gAa	p.G194E	ZFP28_ENST00000591844.1_Missense_Mutation_p.G194E|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	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.G194E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTCTGCGAAGGAAAGCTATCC	0.418																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)GGA>GAA		zinc finger protein 28							76.0	71.0	73.0					19																	57060384		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57060384G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.581G>A	19.37:g.57060384G>A	ENSP00000301318:p.Gly194Glu					ZFP28_uc002qni.2_Missense_Mutation_p.G194E|uc002qnk.1_Intron	p.G194E	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	5	652	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	194					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.581G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.497254	0.01001	.	.	ENSG00000196867	ENST00000301318	T	0.04454	3.62	4.34	2.18	0.27775	.	0.397102	0.18362	N	0.143523	T	0.01092	0.0036	N	0.00583	-1.355	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.0;0.002	T	0.46034	-0.9220	10	0.02654	T	1	.	4.3409	0.11110	0.6837:0.2029:0.1134:0.0	.	194;194	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	E	194	ENSP00000301318:G194E	ENSP00000301318:G194E	G	+	2	0	ZFP28	61752196	0.002000	0.14202	0.000000	0.03702	0.050000	0.14768	0.889000	0.28282	0.269000	0.21961	-0.302000	0.09304	GGA		PASS	0.418	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		7	21	7	21	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57085888	57085888	+	Splice_Site	SNP	G	G	T	rs369170382		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57085888G>T	ENST00000330619.8	+	4	872	c.186G>T	c.(184-186)gtG>gtT	p.V62V	ZNF470_ENST00000391709.3_Splice_Site_p.V62V|ZNF470_ENST00000601902.1_Splice_Site_p.V62V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.V62V(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TAGTTTCAGTGGGTAAGAGTA	0.408																																						uc002qnl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(184-186)GTG>GTT		zinc finger protein 470							193.0	173.0	179.0					19																	57085888		2203	4300	6503	SO:0001630	splice_region_variant	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57085888G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.187+1G>T	19.37:g.57085888G>T						ZNF470_uc010etn.2_RNA	p.V62V	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	4	862	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	62			KRAB.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	ENST00000330619.8	37	c.186G>T	CCDS33122.1																																																																																				PASS	0.408	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	Silent	5	86	5	86	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133813	57133813	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57133813C>T	ENST00000328070.6	+	3	1392	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	386					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.I386I(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGTGCTACATCTGCAAGAAGC	0.632																																						uc002qnm.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1156-1158)ATC>ATT		zinc finger protein 71							94.0	76.0	82.0					19																	57133813		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133813C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1158C>T	19.37:g.57133813C>T							p.I386I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1396	+			386			C2H2-type 10.		Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1158C>T	CCDS12947.1																																																																																				PASS	0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		18	47	18	47	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176237	57176237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57176237C>T	ENST00000537055.2	-	2	561	c.330G>A	c.(328-330)tgG>tgA	p.W110*		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	110					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.W132*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCCGCATTTCCACGGCTTCT	0.637																																						uc010ygo.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(394-396)TGG>TGA		zinc finger protein 835							59.0	71.0	67.0					19																	57176237		2179	4295	6474	SO:0001587	stop_gained	90485							g.chr19:57176237C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.330G>A	19.37:g.57176237C>T	ENSP00000444747:p.Trp110*					ZNF835_uc010ygn.1_Nonsense_Mutation_p.W110*	p.W132*	NM_001005850	NP_001005850					2	396	-								B7Z5Y0|G3V1S0	Nonsense_Mutation	SNP	ENST00000537055.2	37	c.396G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538353	0.65085	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	.	.	.	2.76	-1.17	0.09648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	1.3552	0.02181	0.3751:0.3164:0.1848:0.1237	.	.	.	.	X	132;110	.	ENSP00000341756:W132X	W	-	3	0	ZNF835	61868049	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.119000	0.03276	-0.263000	0.09378	-0.258000	0.10820	TGG		PASS	0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		7	50	7	50	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57176473	57176473	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57176473C>T	ENST00000537055.2	-	2	325	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	32					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.E54K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGACAGCTTTCCTGGTTTTCC	0.587																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(160-162)GAA>AAA		zinc finger protein 835							75.0	80.0	79.0					19																	57176473		1984	4157	6141	SO:0001583	missense	90485							g.chr19:57176473C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.94G>A	19.37:g.57176473C>T	ENSP00000444747:p.Glu32Lys					ZNF835_uc010ygn.1_Missense_Mutation_p.E32K	p.E54K	NM_001005850	NP_001005850					2	160	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.160G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632839	0.47049	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06142	3.34	2.49	1.41	0.22369	.	.	.	.	.	T	0.08313	0.0207	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.75020	0.985	T	0.38090	-0.9677	9	0.19147	T	0.46	.	5.4048	0.16316	0.0:0.83:0.0:0.17	.	54	Q9Y2P0	ZN835_HUMAN	K	54;32	ENSP00000444747:E32K	ENSP00000341756:E54K	E	-	1	0	ZNF835	61868285	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	0.749000	0.26320	0.394000	0.25230	0.561000	0.74099	GAA		PASS	0.587	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		13	28	13	28	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328601	57328601	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57328601C>T	ENST00000326441.9	-	10	1572	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.S403S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.S279S|PEG3_ENST00000593695.1_Silent_p.S277S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	403					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S403S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GATCGTGAATCGAGCCCTTCC	0.478																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1207-1209)TCG>TCA		paternally expressed 3 isoform 1							123.0	126.0	125.0					19																	57328601		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328601C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1209G>A	19.37:g.57328601C>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.S374S|PEG3_uc002qnv.2_Silent_p.S403S|PEG3_uc002qnw.2_Silent_p.S279S|PEG3_uc002qnx.2_Silent_p.S277S|PEG3_uc010etr.2_Silent_p.S403S	p.S403S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1560	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	403					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1209G>A	CCDS12948.1																																																																																				PASS	0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			16	76	16	76	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57642683	57642683	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57642683C>T	ENST00000254181.4	+	4	3094	c.2640C>T	c.(2638-2640)ttC>ttT	p.F880F	U3_ENST00000516874.1_RNA|USP29_ENST00000598197.1_Silent_p.F880F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	880	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.F880F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTATATCTTCTTTTACATGC	0.473																																						uc002qny.2																			1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2638-2640)TTC>TTT		ubiquitin specific peptidase 29							53.0	55.0	55.0					19																	57642683		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642683C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2640C>T	19.37:g.57642683C>T							p.F880F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2996	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	880						Silent	SNP	ENST00000254181.4	37	c.2640C>T	CCDS33124.1																																																																																				PASS	0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			18	32	18	32	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57649966	57649966	+	Splice_Site	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57649966C>T	ENST00000269834.1	-	3	401	c.16G>A	c.(16-18)Gga>Aga	p.G6R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	6					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.G6R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCACTCTTCCCTGTAACAAC	0.478																																						uc002qnz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(16-18)GGA>AGA		zinc finger, imprinted 3							90.0	82.0	85.0					19																	57649966		2203	4300	6503	SO:0001630	splice_region_variant	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57649966C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.16-1G>A	19.37:g.57649966C>T							p.G6R	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	402	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	6					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.16G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225826	0.58668	.	.	ENSG00000141946	ENST00000269834	T	0.00892	5.57	2.87	2.87	0.33458	Krueppel-associated box (1);	.	.	.	.	T	0.01661	0.0053	M	0.72624	2.21	0.23780	N	0.996864	P	0.52061	0.95	B	0.40825	0.341	T	0.50988	-0.8762	9	0.37606	T	0.19	.	11.1147	0.48254	0.0:1.0:0.0:0.0	.	6	Q96PE6	ZIM3_HUMAN	R	6	ENSP00000269834:G6R	ENSP00000269834:G6R	G	-	1	0	ZIM3	62341778	0.612000	0.27000	0.253000	0.24343	0.307000	0.27823	0.847000	0.27696	1.438000	0.47492	0.205000	0.17691	GGA		PASS	0.478	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		Missense_Mutation	13	47	13	47	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57869017	57869017	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57869017A>G	ENST00000282286.5	+	3	1953	c.1780A>G	c.(1780-1782)Aaa>Gaa	p.K594E	ZNF304_ENST00000598744.1_Missense_Mutation_p.K552E|ZNF304_ENST00000391705.3_Missense_Mutation_p.K594E|ZNF304_ENST00000443917.2_Missense_Mutation_p.K641E			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	594					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.K594E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGAATGTGGGAAATTCTTTAG	0.478																																						uc010ygw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1780-1782)AAA>GAA		zinc finger protein 304							77.0	69.0	71.0					19																	57869017		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57869017A>G	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1780A>G	19.37:g.57869017A>G	ENSP00000282286:p.Lys594Glu					ZNF304_uc010etw.2_Missense_Mutation_p.K641E|ZNF304_uc010etx.2_Missense_Mutation_p.K552E	p.K594E	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	2168	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	594			C2H2-type 15.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1780A>G	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819613	0.71028	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.89	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41627	0.1167	L	0.51422	1.61	0.25828	N	0.984206	D;D	0.60160	0.987;0.985	P;D	0.69142	0.9;0.962	T	0.14615	-1.0466	9	0.87932	D	0	.	9.9226	0.41472	0.8281:0.1719:0.0:0.0	.	594;641	Q9HCX3;E7EQD3	ZN304_HUMAN;.	E	594;594;641	ENSP00000282286:K594E;ENSP00000375586:K594E;ENSP00000401642:K641E	ENSP00000282286:K594E	K	+	1	0	ZNF304	62560829	0.822000	0.29219	0.961000	0.40146	0.955000	0.61496	3.094000	0.50227	0.792000	0.33850	0.528000	0.53228	AAA		PASS	0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			13	50	13	50	---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967657	57967657	+	Silent	SNP	G	G	A	rs376448405		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:57967657G>A	ENST00000321039.3	-	1	197	c.198C>T	c.(196-198)ctC>ctT	p.L66L	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	66					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L66L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AAAAACAAAGGAGAAAGGAAT	0.418																																						uc002qos.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(196-198)CTC>CTT		vomeronasal 1 receptor 1		G		1,4405	2.1+/-5.4	0,1,2202	46.0	46.0	46.0		198	-3.8	0.0	19		46	0,8600		0,0,4300	no	coding-synonymous	VN1R1	NM_020633.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		66/354	57967657	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967657G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.198C>T	19.37:g.57967657G>A						ZNF547_uc002qpm.3_Intron	p.L66L	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	198	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	66			Helical; Name=1; (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.198C>T	CCDS12951.1																																																																																				PASS	0.418	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		9	35	9	35	---	---	---	---
ZNF550	162972	broad.mit.edu	37	19	58059242	58059242	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58059242C>A	ENST00000457177.1	-	4	550	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF550_ENST00000601415.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.G83W|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000325134.5_Missense_Mutation_p.G92W|ZNF549_ENST00000594943.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	124					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.G83W(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTAGCTCTCCCCAACCTCGAA	0.532																																						uc002qpe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GGG>TGG		zinc finger protein 550							189.0	200.0	196.0					19																	58059242		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58059242C>A	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.370G>T	19.37:g.58059242C>A	ENSP00000469679:p.Gly124Trp					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.G83W	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	247	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	124					B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.247G>T		.	.	.	.	.	.	.	.	.	.	C	13.37	2.216601	0.39201	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.32515	1.45;1.45	3.72	1.55	0.23275	.	.	.	.	.	T	0.36524	0.0970	L	0.29908	0.895	0.09310	N	1	D	0.65815	0.995	D	0.66847	0.947	T	0.11792	-1.0573	9	0.59425	D	0.04	.	6.2471	0.20825	0.0:0.7645:0.0:0.2355	.	92	Q7Z398-2	.	W	124;92;83	ENSP00000446224:G92W;ENSP00000422344:G83W	ENSP00000446224:G92W	G	-	1	0	AC003682.1	62751054	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.039000	0.12124	0.373000	0.24621	-0.140000	0.14226	GGG		PASS	0.532	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		6	146	6	146	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58083606	58083606	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58083606C>A	ENST00000196489.3	-	4	1888	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	556					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.G556W(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AAGGACTTCCCACATTTGCCA	0.498																																						uc002qpf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1666-1668)GGG>TGG		zinc finger protein 416							173.0	162.0	166.0					19																	58083606		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083606C>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1666G>T	19.37:g.58083606C>A	ENSP00000196489:p.Gly556Trp					ZNF547_uc002qpm.3_Intron	p.G556W	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1837	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	556			C2H2-type 12.		Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1666G>T	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001500	0.54254	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.23754	1.89	3.45	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32466	0.0830	M	0.84326	2.69	0.35244	D	0.778122	P	0.40376	0.715	B	0.42319	0.383	T	0.44421	-0.9329	9	0.72032	D	0.01	.	6.6982	0.23211	0.1765:0.7229:0.0:0.1006	.	556	Q9BWM5	ZN416_HUMAN	W	556;459;454	ENSP00000196489:G556W	ENSP00000196489:G556W	G	-	1	0	ZNF416	62775418	0.779000	0.28652	0.017000	0.16124	0.323000	0.28346	1.869000	0.39519	0.266000	0.21894	0.561000	0.74099	GGG		PASS	0.498	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		5	92	5	92	---	---	---	---
ZNF671	79891	broad.mit.edu	37	19	58232072	58232072	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58232072C>T	ENST00000317398.6	-	4	1477	c.1382G>A	c.(1381-1383)aGc>aAc	p.S461N	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.S363N	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S461N(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGATGCAGCTGAAAGCTTT	0.468																																						uc002qpz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1381-1383)AGC>AAC		zinc finger protein 671							117.0	109.0	112.0					19																	58232072		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232072C>T		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1382G>A	19.37:g.58232072C>T	ENSP00000321848:p.Ser461Asn					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.S384N|ZNF671_uc010yhf.1_Missense_Mutation_p.S363N	p.S461N	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1481	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	461			C2H2-type 8.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1382G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227043	0.39399	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.16324	2.35;2.35	1.73	-0.928	0.10448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	L	0.38531	1.155	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.39881	-0.9592	9	0.18276	T	0.48	.	7.1643	0.25681	0.0:0.4776:0.5224:0.0	.	461	Q8TAW3	ZN671_HUMAN	N	461;363	ENSP00000321848:S461N;ENSP00000338670:S363N	ENSP00000321848:S461N	S	-	2	0	ZNF671	62923884	.	.	0.000000	0.03702	0.953000	0.61014	.	.	-0.138000	0.11434	0.467000	0.42956	AGC		PASS	0.468	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		27	45	27	45	---	---	---	---
ZNF776	284309	broad.mit.edu	37	19	58265935	58265935	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58265935G>A	ENST00000317178.5	+	3	1700	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	479					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.Q479Q(1)|p.Q437Q(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TTCGACATCAGCAGATTCACT	0.453																																						uc002qpx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1435-1437)CAG>CAA		zinc finger protein 776							122.0	106.0	112.0					19																	58265935		2203	4300	6503	SO:0001819	synonymous_variant	284309				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58265935G>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1437G>A	19.37:g.58265935G>A						ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.Q479Q	p.Q479Q	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	3	1660	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	479			C2H2-type 10; degenerate.		Q6ZS36|Q8N968	Silent	SNP	ENST00000317178.5	37	c.1437G>A	CCDS12962.2																																																																																				PASS	0.453	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		36	44	36	44	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601296	58601296	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58601296G>A	ENST00000240727.6	-	2	738	c.339C>T	c.(337-339)taC>taT	p.Y113Y	ZSCAN18_ENST00000600404.1_Silent_p.Y169Y|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Silent_p.Y113Y	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	113	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y113Y(1)|p.Y169Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCTCTCAGGGTACTGTGCCA	0.632																																						uc002qri.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(337-339)TAC>TAT		zinc finger and SCAN domain containing 18							69.0	71.0	70.0					19																	58601296		2203	4300	6503	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601296G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.339C>T	19.37:g.58601296G>A						ZSCAN18_uc002qrj.3_Silent_p.Y113Y|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Silent_p.Y113Y|ZSCAN18_uc010yht.1_Silent_p.Y169Y|ZSCAN18_uc002qrk.1_Silent_p.Y113Y|ZSCAN18_uc002qrl.2_Silent_p.Y113Y	p.Y113Y	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	648	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	113			SCAN box.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.339C>T	CCDS12971.1																																																																																				PASS	0.632	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		9	51	9	51	---	---	---	---
ZSCAN18	65982	broad.mit.edu	37	19	58601475	58601475	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:58601475C>T	ENST00000240727.6	-	2	559	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E110K|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E54K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	54	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E54*(1)|p.E54K(1)|p.E110*(1)|p.E110K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TAGACAAATTCCCGGAAACGC	0.677																																						uc002qri.2																			4	Substitution - Missense(2)|Substitution - Nonsense(2)		lung(4)		0						c.(160-162)GAA>AAA		zinc finger and SCAN domain containing 18							29.0	32.0	31.0					19																	58601475		2202	4297	6499	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601475C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.160G>A	19.37:g.58601475C>T	ENSP00000240727:p.Glu54Lys					ZSCAN18_uc002qrj.3_Missense_Mutation_p.E54K|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E54K|ZSCAN18_uc010yht.1_Missense_Mutation_p.E110K|ZSCAN18_uc002qrk.1_Missense_Mutation_p.E54K|ZSCAN18_uc002qrl.2_Missense_Mutation_p.E54K	p.E54K	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	469	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	54			SCAN box.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.160G>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855463	0.51376	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.04049	3.72	3.53	1.37	0.22104	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.04182	0.0116	N	0.04880	-0.145	0.09310	N	1	B;P;D;B	0.63046	0.414;0.884;0.992;0.287	P;P;D;B	0.63877	0.506;0.504;0.919;0.298	T	0.21449	-1.0245	9	0.02654	T	1	-6.6981	4.5644	0.12175	0.0:0.6513:0.0:0.3487	.	110;124;54;54	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	K	110;54	ENSP00000240727:E54K	ENSP00000240727:E54K	E	-	1	0	ZSCAN18	63293287	0.000000	0.05858	0.318000	0.25279	0.936000	0.57629	-0.519000	0.06260	0.669000	0.31146	0.561000	0.74099	GAA		PASS	0.677	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		11	14	11	14	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1115883	1115884	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:1115883_1115884CC>TT	ENST00000335877.6	+	4	661_662	c.485_486CC>TT	c.(484-486)aCC>aTT	p.T162I	PSMF1_ENST00000381898.4_Missense_Mutation_p.T74I|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.T162I|PSMF1_ENST00000246015.4_Missense_Mutation_p.T162I|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	162	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.T162I(2)|p.T162T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCCCCTGCTACCGCCAGAGAGG	0.584																																						uc002wel.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(484-486)ACC>ATC|c.(484-486)ACC>ACT		proteasome inhibitor subunit 1																																				SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1115883C>T|g.chr20:1115884C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	Exception_encountered	20.37:g.1115883_1115884delinsTT	ENSP00000338039:p.Thr162Ile					PSMF1_uc010zpo.1_Missense_Mutation_p.T74I|PSMF1_uc002wem.3_Missense_Mutation_p.T162I|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Missense_Mutation_p.T162I|PSMF1_uc002wep.3_Missense_Mutation_p.T113I|PSMF1_uc010zpo.1_Silent_p.T74T|PSMF1_uc002wem.3_Silent_p.T162T|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Silent_p.T162T|PSMF1_uc002wep.3_Silent_p.T113T	p.T162I|p.T162T	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			5	653|654	+			162			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation|Silent	SNP	ENST00000335877.6	37	c.485C>T|c.486C>T	CCDS13010.1																																																																																				PASS	0.584	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		20	16	20	16	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145091	1145091	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:1145091C>T	ENST00000335877.6	+	6	911	c.735C>T	c.(733-735)ccC>ccT	p.P245P	PSMF1_ENST00000381898.4_Silent_p.P157P|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Silent_p.P245P|PSMF1_ENST00000246015.4_Silent_p.P245P|PSMF1_ENST00000438768.2_Silent_p.P183P	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	245	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.P245P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GCTTTGACCCCTTTGGACCCA	0.587																																						uc002wel.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CCC>CCT		proteasome inhibitor subunit 1							110.0	119.0	116.0					20																	1145091		2203	4300	6503	SO:0001819	synonymous_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145091C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.735C>T	20.37:g.1145091C>T						PSMF1_uc010zpo.1_Silent_p.P157P|PSMF1_uc002wem.3_Silent_p.P245P|PSMF1_uc010zpp.1_Silent_p.P183P|PSMF1_uc002wen.3_Silent_p.P245P|PSMF1_uc002wep.3_Silent_p.P196P	p.P245P	NM_178578	NP_848693	Q92530	PSMF1_HUMAN			7	903	+			245			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Silent	SNP	ENST00000335877.6	37	c.735C>T	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564994	0.27915	.	.	ENSG00000125818	ENST00000435720	.	.	.	6.07	0.286	0.15710	.	.	.	.	.	T	0.52581	0.1743	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44267	-0.9339	4	.	.	.	-9.0677	6.9931	0.24765	0.0:0.584:0.1203:0.2957	.	.	.	.	F	87	.	.	L	+	1	0	PSMF1	1093091	0.940000	0.31905	1.000000	0.80357	0.988000	0.76386	-0.023000	0.12456	0.448000	0.26722	0.655000	0.94253	CTT		PASS	0.587	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		39	80	39	80	---	---	---	---
SNPH	9751	broad.mit.edu	37	20	1277021	1277021	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:1277021C>T	ENST00000381873.3	+	3	242	c.6C>T	c.(4-6)gcC>gcT	p.A2A	RAD21L1_ENST00000381882.2_Missense_Mutation_p.H516Y|SNPH_ENST00000381867.1_Silent_p.A46A|RAD21L1_ENST00000402452.1_Missense_Mutation_p.H516Y	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	2					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.A46A(1)|p.H516Y(1)|p.A2A(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCCTCATGGCCATGTCCCTGC	0.692																																						uc002wes.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)	ovary(2)	2						c.(4-6)GCC>GCT		syntaphilin							73.0	60.0	65.0					20																	1277021		2203	4300	6503	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1277021C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.6C>T	20.37:g.1277021C>T						SNPH_uc002wet.2_Silent_p.A46A	p.A2A	NM_014723	NP_055538	O15079	SNPH_HUMAN			3	242	+			2					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.6C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515047	0.44763	.	.	ENSG00000244588	ENST00000402452;ENST00000381882	T;T	0.45668	0.89;0.89	4.29	4.29	0.51040	.	.	.	.	.	T	0.53174	0.1780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	6	0.87932	D	0	-22.0565	10.1394	0.42725	0.0:0.9066:0.0:0.0934	.	.	.	.	Y	516	ENSP00000385925:H516Y;ENSP00000371306:H516Y	ENSP00000371306:H516Y	H	+	1	0	RAD21L1	1225021	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.853000	0.27777	2.363000	0.80096	0.561000	0.74099	CAT		PASS	0.692	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		14	18	14	18	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2776894	2776894	+	Splice_Site	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:2776894C>A	ENST00000380605.2	-	9	1305	c.1241G>T	c.(1240-1242)cGg>cTg	p.R414L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	414					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R414L(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGGCCTACCCGGTGGTAGGC	0.622																																						uc002wgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1240-1242)CGG>CTG		carboxypeptidase X, member 1 precursor							59.0	55.0	57.0					20																	2776894		2203	4300	6503	SO:0001630	splice_region_variant	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776894C>A	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1242+1G>T	20.37:g.2776894C>A						CPXM1_uc010gas.2_Missense_Mutation_p.R414L	p.R414L	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			9	1305	-			414					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1241G>T	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522760	0.27211	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.03242	4.0	5.43	1.37	0.22104	Peptidase M14, carboxypeptidase A (1);	0.441463	0.25253	N	0.032001	T	0.01592	0.0051	N	0.04063	-0.285	0.41837	D	0.990107	B;B	0.12630	0.006;0.001	B;B	0.14023	0.01;0.004	T	0.54255	-0.8321	10	0.26408	T	0.33	-12.5886	4.1074	0.10043	0.1534:0.5222:0.0:0.3245	.	414;414	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	L	414;110	ENSP00000369979:R414L	ENSP00000369979:R414L	R	-	2	0	CPXM1	2724894	0.027000	0.19231	0.996000	0.52242	0.958000	0.62258	0.205000	0.17356	0.128000	0.18479	0.655000	0.94253	CGG		PASS	0.622	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	Missense_Mutation	4	44	4	44	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2843558	2843558	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:2843558G>T	ENST00000380445.3	+	13	1381	c.1309G>T	c.(1309-1311)Ggg>Tgg	p.G437W	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.G123W|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	437					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.G437W(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTATCACATCGGGATCCCGCT	0.582																																						uc002whe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1309-1311)GGG>TGG		vacuolar protein sorting 16 isoform 1							114.0	111.0	112.0					20																	2843558		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843558G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1309G>T	20.37:g.2843558G>T	ENSP00000369810:p.Gly437Trp					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.G123W|VPS16_uc002whi.2_5'Flank	p.G437W	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			13	1357	+			437					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1309G>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338964	0.81911	.	.	ENSG00000215305	ENST00000380445;ENST00000380443	T;T	0.59364	0.29;0.27	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.81964	0.4934	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86547	0.1832	10	0.87932	D	0	-30.5205	16.0109	0.80402	0.0:0.0:1.0:0.0	.	123;437	Q5JUA8;Q9H269	.;VPS16_HUMAN	W	437;123	ENSP00000369810:G437W;ENSP00000369808:G123W	ENSP00000369808:G123W	G	+	1	0	VPS16	2791558	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	8.975000	0.93437	2.646000	0.89796	0.561000	0.74099	GGG		PASS	0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		5	130	5	130	---	---	---	---
VPS16	64601	broad.mit.edu	37	20	2847114	2847114	+	Missense_Mutation	SNP	G	G	T	rs544579110		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:2847114G>T	ENST00000380445.3	+	24	2486	c.2414G>T	c.(2413-2415)cGg>cTg	p.R805L	VPS16_ENST00000380469.3_Missense_Mutation_p.R661L|VPS16_ENST00000380443.3_Missense_Mutation_p.R491L|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	805					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.R805L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATCGAACACCGGAATGAGGCT	0.597																																						uc002whe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2413-2415)CGG>CTG		vacuolar protein sorting 16 isoform 1							122.0	111.0	115.0					20																	2847114		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2847114G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2414G>T	20.37:g.2847114G>T	ENSP00000369810:p.Arg805Leu					VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.R661L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R491L|VPS16_uc002whi.2_Missense_Mutation_p.R289L	p.R805L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			24	2462	+			805					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2414G>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237772	0.79800	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.56275	0.47;0.47;0.47	5.22	5.22	0.72569	Vps16, C-terminal (1);	0.169035	0.49916	D	0.000136	T	0.56062	0.1960	M	0.62723	1.935	0.80722	D	1	P;P;D;P	0.53312	0.8;0.8;0.959;0.8	B;P;B;B	0.45071	0.3;0.468;0.43;0.392	T	0.62987	-0.6737	10	0.72032	D	0.01	-25.6811	16.3271	0.82987	0.0:0.0:1.0:0.0	.	281;491;661;805	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	L	805;661;491	ENSP00000369810:R805L;ENSP00000369836:R661L;ENSP00000369808:R491L	ENSP00000369808:R491L	R	+	2	0	VPS16	2795114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.770000	0.47662	2.706000	0.92434	0.561000	0.74099	CGG		PASS	0.597	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		5	75	5	75	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3543878	3543878	+	Missense_Mutation	SNP	T	T	A	rs35623762		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:3543878T>A	ENST00000262919.5	+	10	1722	c.1654T>A	c.(1654-1656)Ttt>Att	p.F552I	ATRN_ENST00000446916.2_Missense_Mutation_p.F552I	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	552					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F552I(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GGACAGCCGATTTTTCCGTTA	0.378																																						uc002wim.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1654-1656)TTT>ATT		attractin isoform 1							166.0	140.0	149.0					20																	3543878		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3543878T>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1654T>A	20.37:g.3543878T>A	ENSP00000262919:p.Phe552Ile					ATRN_uc002wil.2_Missense_Mutation_p.F552I	p.F552I	NM_139321	NP_647537	O75882	ATRN_HUMAN			10	1744	+			552			Extracellular (Potential).|Kelch 4.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.1654T>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244132	0.59103	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.73258	-0.73;-0.14	5.32	4.23	0.50019	Kelch-type beta propeller (1);	0.196210	0.56097	D	0.000030	T	0.57184	0.2036	L	0.35414	1.06	0.53005	D	0.999965	B;P	0.42296	0.399;0.775	B;B	0.39660	0.096;0.306	T	0.51826	-0.8656	10	0.22706	T	0.39	-10.2808	10.6433	0.45604	0.0:0.0755:0.0:0.9245	.	552;552	O75882;O75882-2	ATRN_HUMAN;.	I	552;552;478	ENSP00000262919:F552I;ENSP00000416587:F552I	ENSP00000262919:F552I	F	+	1	0	ATRN	3491878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.083000	0.71326	1.053000	0.40415	0.482000	0.46254	TTT		PASS	0.378	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		40	60	40	60	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3655426	3655426	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:3655426C>T	ENST00000356518.2	-	5	645	c.404G>A	c.(403-405)gGg>gAg	p.G135E	ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Missense_Mutation_p.G135E|ADAM33_ENST00000379861.4_Missense_Mutation_p.G135E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	135					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G135E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TCACCTCATCCCAGAGCAGGT	0.627																																						uc002wit.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(403-405)GGG>GAG		ADAM metallopeptidase domain 33 isoform alpha							42.0	45.0	44.0					20																	3655426		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655426C>T	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.404G>A	20.37:g.3655426C>T	ENSP00000348912:p.Gly135Glu					ADAM33_uc002wir.1_Missense_Mutation_p.G135E|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.G135E|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G147E|ADAM33_uc010zqh.1_Missense_Mutation_p.G135E	p.G135E	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			5	491	-			135			Extracellular (Potential).|Cysteine switch (By similarity).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.404G>A	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353882	0.82243	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000444535;ENST00000439201	T;T;T	0.11604	2.76;2.76;2.76	4.74	3.77	0.43336	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.42086	0.1187	M	0.93241	3.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.988;0.993;0.993	T	0.56992	-0.7887	9	0.72032	D	0.01	.	13.2443	0.60014	0.1604:0.8396:0.0:0.0	.	135;147;135;135;135	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	E	135;135;135;148;135	ENSP00000348912:G135E;ENSP00000369190:G135E;ENSP00000322550:G135E	ENSP00000322550:G135E	G	-	2	0	ADAM33	3603426	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	4.761000	0.62243	1.333000	0.45449	0.655000	0.94253	GGG		PASS	0.627	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		16	22	16	22	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3675063	3675063	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:3675063C>T	ENST00000344754.4	-	12	3060	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D1021N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1021	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D1021N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACAAGGCGATCCCCGTGGAGC	0.662																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3061-3063)GAT>AAT		sialoadhesin precursor							34.0	38.0	37.0					20																	3675063		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675063C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3061G>A	20.37:g.3675063C>T	ENSP00000341141:p.Asp1021Asn					SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.D1021N	p.D1021N	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			12	3061	-			1021			Ig-like C2-type 10.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3061G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	6.456	0.452230	0.12283	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.29397	1.57;1.57	5.15	0.879	0.19155	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.516690	0.16328	N	0.219252	T	0.13670	0.0331	N	0.20574	0.59	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.005	T	0.32745	-0.9895	10	0.06757	T	0.87	.	5.1119	0.14813	0.0:0.4532:0.2847:0.262	.	1021;1021	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	N	1021	ENSP00000341141:D1021N;ENSP00000202578:D1021N	ENSP00000202578:D1021N	D	-	1	0	SIGLEC1	3623063	0.000000	0.05858	0.101000	0.21167	0.255000	0.26057	-0.125000	0.10579	0.260000	0.21731	0.561000	0.74099	GAT		PASS	0.662	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		4	11	4	11	---	---	---	---
CDC25B	994	broad.mit.edu	37	20	3781422	3781422	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:3781422G>A	ENST00000245960.5	+	6	1189	c.492G>A	c.(490-492)cgG>cgA	p.R164R	CDC25B_ENST00000340833.4_Intron|CDC25B_ENST00000439880.2_Silent_p.R150R|CDC25B_ENST00000344256.6_Silent_p.R100R|CDC25B_ENST00000379598.5_Silent_p.R100R|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	164					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R150R(1)|p.R164R(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCGTGCTTCGGAACATCACCA	0.667																																						uc002wjn.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)	5						c.(490-492)CGG>CGA		cell division cycle 25B isoform 1							33.0	38.0	37.0					20																	3781422		2202	4292	6494	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3781422G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.492G>A	20.37:g.3781422G>A						CDC25B_uc010zqk.1_Silent_p.R100R|CDC25B_uc010zql.1_Silent_p.R86R|CDC25B_uc010zqm.1_Silent_p.R100R|CDC25B_uc002wjl.2_Silent_p.R52R|CDC25B_uc002wjm.2_Silent_p.R52R|CDC25B_uc002wjo.2_Silent_p.R150R|CDC25B_uc002wjp.2_Intron|CDC25B_uc002wjq.2_Intron|CDC25B_uc010gbc.2_5'Flank	p.R164R	NM_021873	NP_068659	P30305	MPIP2_HUMAN			6	1270	+			164					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.492G>A	CCDS13067.1																																																																																				PASS	0.667	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		19	19	19	19	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903242	5903242	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:5903242A>G	ENST00000378961.4	+	4	656	c.452A>G	c.(451-453)gAa>gGa	p.E151G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	151						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.E151G(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTCTCTGAAGAAGTGAAGACA	0.572																																						uc002wmg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(451-453)GAA>GGA		chromogranin B precursor							38.0	40.0	40.0					20																	5903242		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903242A>G		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.452A>G	20.37:g.5903242A>G	ENSP00000368244:p.Glu151Gly					CHGB_uc010zqz.1_5'UTR	p.E151G	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	758	+			151					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.452A>G	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732075	0.48939	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02345	4.33;4.33	5.45	4.35	0.52113	.	0.805635	0.11347	N	0.573396	T	0.07279	0.0184	M	0.71581	2.175	0.42346	D	0.992353	B	0.33345	0.409	B	0.38500	0.275	T	0.05007	-1.0912	10	0.87932	D	0	-18.4555	11.0213	0.47720	0.9254:0.0:0.0746:0.0	.	151	P05060	SCG1_HUMAN	G	151;131	ENSP00000368244:E151G;ENSP00000416643:E131G	ENSP00000368244:E151G	E	+	2	0	CHGB	5851242	0.995000	0.38212	0.812000	0.32479	0.035000	0.12851	2.710000	0.47169	0.889000	0.36185	0.460000	0.39030	GAA		PASS	0.572	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		24	22	24	22	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903364	5903364	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:5903364G>A	ENST00000378961.4	+	4	778	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	192						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.G192R(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGAAGAGCCAGGAGAGACACA	0.488																																						uc002wmg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(574-576)GGA>AGA		chromogranin B precursor							97.0	99.0	98.0					20																	5903364		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903364G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.574G>A	20.37:g.5903364G>A	ENSP00000368244:p.Gly192Arg					CHGB_uc010zqz.1_5'UTR	p.G192R	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	880	+			192					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.574G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.293961	0.60086	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02032	4.49;4.49	5.57	5.57	0.84162	.	0.486312	0.19811	N	0.105525	T	0.10252	0.0251	M	0.69823	2.125	0.09310	N	0.999994	D	0.58268	0.982	P	0.60473	0.875	T	0.02391	-1.1166	10	0.59425	D	0.04	-10.949	14.7188	0.69289	0.0:0.1448:0.8552:0.0	.	192	P05060	SCG1_HUMAN	R	192;172	ENSP00000368244:G192R;ENSP00000416643:G172R	ENSP00000368244:G192R	G	+	1	0	CHGB	5851364	0.342000	0.24809	0.006000	0.13384	0.082000	0.17680	3.844000	0.55873	2.606000	0.88127	0.563000	0.77884	GGA		PASS	0.488	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		30	92	30	92	---	---	---	---
CRLS1	54675	broad.mit.edu	37	20	5990442	5990443	+	Missense_Mutation	DNP	CC	CC	TT	rs371425827		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:5990442_5990443CC>TT	ENST00000378863.4	+	2	485_486	c.328_329CC>TT	c.(328-330)CCg>TTg	p.P110L	CRLS1_ENST00000452938.1_Missense_Mutation_p.P110L|CRLS1_ENST00000378868.4_Missense_Mutation_p.P11L	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	110					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.P110L(2)|p.P110S(1)		lung(3)|ovary(1)	4						ATGGACAATCCCGAATATGTTG	0.317																																						uc002wmn.3																			3	Substitution - Missense(3)		lung(3)		0						c.(328-330)CCG>TCG|c.(328-330)CCG>CTG		cardiolipin synthase 1 isoform 1																																				SO:0001583	missense	54675				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr20:5990442C>T|g.chr20:5990443C>T	AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	Exception_encountered	20.37:g.5990442_5990443delinsTT	ENSP00000368140:p.Pro110Leu					CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.P11S|CRLS1_uc010gbs.1_5'UTR|CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.P11L|CRLS1_uc010gbs.1_5'UTR	p.P110S|p.P110L	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN			2	482|483	+			110			Helical; (Potential).		D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	c.328C>T|c.329C>T	CCDS13096.1																																																																																				PASS	0.317	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095		13	36	13	36	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6022121	6022121	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:6022121C>A	ENST00000378858.4	-	5	1994	c.1770G>T	c.(1768-1770)gaG>gaT	p.E590D		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	590	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.E590D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGTCCGTGGTCTCCGTCACCC	0.711																																						uc002wmo.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1768-1770)GAG>GAT		leucine rich repeat neuronal 4 precursor							57.0	57.0	57.0					20																	6022121		2203	4298	6501	SO:0001583	missense	164312					integral to membrane		g.chr20:6022121C>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1770G>T	20.37:g.6022121C>A	ENSP00000368135:p.Glu590Asp						p.E590D	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	1994	-			590			Extracellular (Potential).|Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1770G>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733678	0.69189	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	5.13	5.13	0.70059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.270105	0.32987	N	0.005416	T	0.64735	0.2625	L	0.52905	1.665	0.36653	D	0.877528	D	0.89917	1.0	D	0.75020	0.985	T	0.71745	-0.4500	10	0.66056	D	0.02	-29.2888	9.8769	0.41209	0.0:0.8735:0.0:0.1265	.	590	Q8WUT4	LRRN4_HUMAN	D	590	ENSP00000368135:E590D	ENSP00000368135:E590D	E	-	3	2	LRRN4	5970121	0.831000	0.29352	0.396000	0.26296	0.876000	0.50452	1.489000	0.35562	2.385000	0.81259	0.561000	0.74099	GAG		PASS	0.711	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		19	32	19	32	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8862318	8862319	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:8862318_8862319CC>TT	ENST00000338037.6	+	32	3500_3501	c.3473_3474CC>TT	c.(3472-3474)cCC>cTT	p.P1158L	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1158					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.P1158L(2)|p.P1158H(1)|p.P1158P(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGACTGCCCCTCGAGATTT	0.475																																						uc002wnb.2																			4	Substitution - Missense(3)|Substitution - coding silent(1)		lung(4)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3472-3474)CCC>CTC|c.(3472-3474)CCC>CCT		phosphoinositide-specific phospholipase C beta 1																																				SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862318C>T|g.chr20:8862319C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	Exception_encountered	20.37:g.8862318_8862319delinsTT	ENSP00000338185:p.Pro1158Leu					PLCB1_uc002wna.2_3'UTR	p.P1158L|p.P1158P	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			32	3476|3477	+			1158					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation|Silent	SNP	ENST00000338037.6	37	c.3473C>T|c.3474C>T	CCDS13102.1																																																																																				PASS	0.475	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			71|72	159|160	71	159	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9424652	9424652	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:9424652G>A	ENST00000378493.1	+	27	2768	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.R930K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R930K|PLCB4_ENST00000334005.3_Missense_Mutation_p.R918K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R918K|PLCB4_ENST00000378501.2_Missense_Mutation_p.R918K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	918					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R918K(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTCAAGTAAGGATAGAAGAC	0.299																																						uc002wnf.2																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2752-2754)AGG>AAG		phospholipase C beta 4 isoform b							105.0	105.0	105.0					20																	9424652		2203	4299	6502	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424652G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2753G>A	20.37:g.9424652G>A	ENSP00000367754:p.Arg918Lys					PLCB4_uc010gbw.1_Missense_Mutation_p.R918K|PLCB4_uc010gbx.2_Missense_Mutation_p.R930K|PLCB4_uc002wne.2_Missense_Mutation_p.R918K|PLCB4_uc002wnh.2_Missense_Mutation_p.R765K	p.R918K	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			29	2889	+			918					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2753G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690081	0.29962	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.71	4.76	0.60689	Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta, conserved site (1);	0.161726	0.64402	D	0.000009	T	0.14270	0.0345	N	0.01352	-0.895	0.37865	D	0.929847	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.12630	-1.0540	10	0.33940	T	0.23	.	5.4726	0.16678	0.2685:0.0:0.7315:0.0	.	930;765;918;918	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	918;930;918;918;918;766	ENSP00000334105:R918K;ENSP00000367734:R930K;ENSP00000278655:R918K;ENSP00000367754:R918K;ENSP00000367762:R918K;ENSP00000390616:R766K	ENSP00000278655:R918K	R	+	2	0	PLCB4	9372652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.967000	0.56802	2.696000	0.92011	0.650000	0.86243	AGG		PASS	0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			20	57	20	57	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13846116	13846116	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:13846116G>A	ENST00000284951.5	-	16	1523	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	483						integral component of membrane (GO:0016021)		p.F483F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGCTGTCAGGAATTTCTCAG	0.433																																						uc010gcf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1447-1449)TTC>TTT		sel-1 suppressor of lin-12-like 2 precursor							88.0	84.0	85.0					20																	13846116		1899	4114	6013	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13846116G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1449C>T	20.37:g.13846116G>A						SEL1L2_uc002woq.3_Silent_p.F344F|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron	p.F483F	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			16	1531	-			483			Extracellular (Potential).		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1449C>T																																																																																					PASS	0.433	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		30	49	30	49	---	---	---	---
CSRP2BP	57325	broad.mit.edu	37	20	18123429	18123430	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:18123429_18123430CC>TA	ENST00000435364.3	+	1	466_467	c.125_126CC>TA	c.(124-126)tCC>tTA	p.S42L	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.S42L|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	42					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.S42S(1)|p.S42F(1)|p.S42L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCGTCGAATCCGAGGATCAGG	0.545																																						uc002wqj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(3)|ovary(2)|skin(1)	6						c.(124-126)TCC>TTC|c.(124-126)TCC>TCA		CSRP2 binding protein																																				SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18123429C>T|g.chr20:18123430C>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	Exception_encountered	20.37:g.18123429_18123430delinsTA	ENSP00000392318:p.Ser42Leu					CSRP2BP_uc002wqk.2_5'Flank	p.S42F|p.S42S	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			2	747|748	+			42					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation|Silent	SNP	ENST00000435364.3	37	c.125C>T|c.126C>A	CCDS13133.1																																																																																				PASS	0.545	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		28	41|42	28	41	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18505185	18505185	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:18505185C>T	ENST00000336714.3	+	5	907	c.475C>T	c.(475-477)Cct>Tct	p.P159S	SEC23B_ENST00000377475.3_Missense_Mutation_p.P159S|SEC23B_ENST00000377465.1_Missense_Mutation_p.P159S|SEC23B_ENST00000262544.2_Missense_Mutation_p.P159S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	159					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.P159S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GAGTCTTCTTCCTCCAGATGC	0.493																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CCT>TCT		Sec23 homolog B							135.0	120.0	125.0					20																	18505185		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18505185C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.475C>T	20.37:g.18505185C>T	ENSP00000338844:p.Pro159Ser					SEC23B_uc002wra.1_Missense_Mutation_p.P159S|SEC23B_uc002wrb.1_Missense_Mutation_p.P159S|SEC23B_uc010zsb.1_Missense_Mutation_p.P141S|SEC23B_uc002wrc.1_Missense_Mutation_p.P159S	p.P159S	NM_006363	NP_006354	Q15437	SC23B_HUMAN			5	918	+			159					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.475C>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914379	0.92178	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	4.75	4.75	0.60458	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96214	0.9155	10	0.87932	D	0	-18.3439	16.9282	0.86182	0.0:1.0:0.0:0.0	.	141;159	B4DJW8;Q15437	.;SC23B_HUMAN	S	159	ENSP00000403971:P159S;ENSP00000338844:P159S;ENSP00000262544:P159S;ENSP00000366695:P159S;ENSP00000366685:P159S	ENSP00000262544:P159S	P	+	1	0	SEC23B	18453185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.593000	0.82686	2.474000	0.83562	0.585000	0.79938	CCT		PASS	0.493	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			37	56	37	56	---	---	---	---
SCP2D1	140856	broad.mit.edu	37	20	18794465	18794465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:18794465G>A	ENST00000377428.2	+	1	96	c.6G>A	c.(4-6)tgG>tgA	p.W2*	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	2								p.W2*(1)									GGAAGATGTGGAAGAGAAGTG	0.512																																						uc002wrk.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)	3						c.(4-6)TGG>TGA		hypothetical protein LOC140856							107.0	101.0	103.0					20																	18794465		2203	4300	6503	SO:0001587	stop_gained	140856						sterol binding	g.chr20:18794465G>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.6G>A	20.37:g.18794465G>A	ENSP00000366645:p.Trp2*					uc002wrj.1_Intron	p.W2*	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN			1	96	+			2					Q548A4	Nonsense_Mutation	SNP	ENST00000377428.2	37	c.6G>A	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135644	0.77662	.	.	ENSG00000132631	ENST00000377428	.	.	.	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0757	15.6701	0.77267	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000366645:W2X	W	+	3	0	C20orf79	18742465	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	5.058000	0.64300	2.775000	0.95449	0.467000	0.42956	TGG		PASS	0.512	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		27	51	27	51	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A	rs371793125		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(583-585)GAT>AAT		hypothetical protein LOC26074		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	199.0	183.0	189.0		583,583	3.6	0.8	20		189	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C20orf26	NM_015585.3,NM_001167816.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	195/1238,195/471	20071504	1,13005	2203	4300	6503	SO:0001583	missense	26074							g.chr20:20071504G>A																												ENST00000245957.5:c.583G>A	20.37:g.20071504G>A	ENSP00000245957:p.Asp195Asn					C20orf26_uc010gcw.1_Missense_Mutation_p.D149N|C20orf26_uc010zse.1_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	659	+			195					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.583G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530430	0.27387	0.0	1.16E-4	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.62	3.61	0.41365	Acyl-CoA N-acyltransferase (2);	0.170524	0.49916	N	0.000121	T	0.39655	0.1086	M	0.78456	2.415	0.80722	D	1	B;P;P;B	0.49961	0.056;0.93;0.852;0.032	B;B;B;B	0.41946	0.018;0.371;0.202;0.018	T	0.38845	-0.9642	10	0.62326	D	0.03	.	10.2391	0.43301	0.0774:0.1352:0.7874:0.0	.	195;195;149;195	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	N	149;195;195;195;195;195;91	ENSP00000345553:D149N;ENSP00000245957:D195N;ENSP00000366521:D195N;ENSP00000414537:D195N;ENSP00000420498:D91N	ENSP00000245957:D195N	D	+	1	0	C20orf26	20019504	1.000000	0.71417	0.766000	0.31476	0.075000	0.17131	3.034000	0.49751	0.663000	0.31027	-0.150000	0.13652	GAT		PASS	0.438	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			42	91	42	91	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20571878	20571878	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:20571878G>A	ENST00000202677.7	-	17	2291	c.2284C>T	c.(2284-2286)Ctt>Ttt	p.L762F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	762					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L762F(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTGCTCCGAAGGACCTGCTGC	0.507																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2284-2286)CTT>TTT		akt substrate AS250							73.0	80.0	78.0					20																	20571878		2051	4194	6245	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20571878G>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2284C>T	20.37:g.20571878G>A	ENSP00000202677:p.Leu762Phe					RALGAPA2_uc010gcx.2_Missense_Mutation_p.L466F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.L210F	p.L762F	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			17	2427	-			762					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.2284C>T	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863026	0.51482	.	.	ENSG00000188559	ENST00000202677	T	0.72282	-0.64	5.85	-2.48	0.06423	.	0.980679	0.08372	N	0.955861	T	0.42743	0.1216	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.25082	-1.0142	10	0.59425	D	0.04	.	0.6593	0.00840	0.2836:0.1078:0.2882:0.3205	.	600;762	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	F	762	ENSP00000202677:L762F	ENSP00000202677:L762F	L	-	1	0	RALGAPA2	20519878	0.010000	0.17322	0.000000	0.03702	0.667000	0.39255	0.981000	0.29526	-0.336000	0.08438	-0.136000	0.14681	CTT		PASS	0.507	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		13	27	13	27	---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21349207	21349207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:21349207C>T	ENST00000377191.3	+	27	2658	c.2563C>T	c.(2563-2565)Cag>Tag	p.Q855*	XRN2_ENST00000430571.2_Nonsense_Mutation_p.Q779*|XRN2_ENST00000539513.1_Nonsense_Mutation_p.Q801*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	855					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q855*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						AGGACAAGCCCAGATTCCAAA	0.398																																						uc002wsf.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2563-2565)CAG>TAG		5'-3' exoribonuclease 2							114.0	111.0	112.0					20																	21349207		2203	4300	6503	SO:0001587	stop_gained	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21349207C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2563C>T	20.37:g.21349207C>T	ENSP00000366396:p.Gln855*					XRN2_uc002wsg.1_Nonsense_Mutation_p.Q779*|XRN2_uc010zsk.1_Nonsense_Mutation_p.Q801*	p.Q855*	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			27	2658	+			855					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	c.2563C>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	C	40	8.240268	0.98722	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.6	5.6	0.85130	.	0.324982	0.31484	N	0.007577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-4.634	17.3954	0.87443	0.0:1.0:0.0:0.0	.	.	.	.	X	855;779;801	.	ENSP00000366396:Q855X	Q	+	1	0	XRN2	21297207	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.929000	0.63455	2.635000	0.89317	0.650000	0.86243	CAG		PASS	0.398	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		30	62	30	62	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472424	23472424	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:23472424C>T	ENST00000246012.1	+	2	477	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	40					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A40A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCGTCAATGCCTCAAATGCCA	0.502																																						uc002wth.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)GCC>GCT		cystatin 8 precursor							211.0	189.0	196.0					20																	23472424		2203	4300	6503	SO:0001819	synonymous_variant	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472424C>T	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.120C>T	20.37:g.23472424C>T							p.A40A	NM_005492	NP_005483	O60676	CST8_HUMAN			2	477	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		40					Q2M2X6	Silent	SNP	ENST00000246012.1	37	c.120C>T	CCDS13156.1																																																																																				PASS	0.502	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			45	119	45	119	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472433	23472433	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:23472433C>T	ENST00000246012.1	+	2	486	c.129C>T	c.(127-129)gcC>gcT	p.A43A		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	43					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A43A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCTCAAATGCCAACGTGAAGC	0.507																																						uc002wth.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(127-129)GCC>GCT		cystatin 8 precursor							214.0	190.0	198.0					20																	23472433		2203	4300	6503	SO:0001819	synonymous_variant	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472433C>T	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.129C>T	20.37:g.23472433C>T							p.A43A	NM_005492	NP_005483	O60676	CST8_HUMAN			2	486	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		43					Q2M2X6	Silent	SNP	ENST00000246012.1	37	c.129C>T	CCDS13156.1																																																																																				PASS	0.507	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			48	128	48	128	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23666597	23666597	+	Silent	SNP	G	G	A	rs182089948	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:23666597G>A	ENST00000217423.3	-	3	430	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	120					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.F120F(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)					CGTAGATCTCGAAAGAGCACA	0.537													g|||	19	0.00379393	0.0	0.0	5008	,	,		17801	0.0188		0.0	False		,,,				2504	0.0					uc002wto.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(358-360)TTC>TTT		cystatin S precursor							96.0	89.0	91.0					20																	23666597		2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23666597G>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.360C>T	20.37:g.23666597G>A							p.F120F	NM_001899	NP_001890	P01036	CYTS_HUMAN			3	416	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		120					Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.360C>T	CCDS13159.1																																																																																				PASS	0.537	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		15	24	15	24	---	---	---	---
CST5	1473	broad.mit.edu	37	20	23856875	23856875	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:23856875G>A	ENST00000304710.4	-	3	452	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	127					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.P127S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TCCTCCCAGGGAACTTCATTG	0.478																																						uc002wtr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)CCC>TCC		cystatin D precursor							79.0	86.0	83.0					20																	23856875		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23856875G>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.379C>T	20.37:g.23856875G>A	ENSP00000307132:p.Pro127Ser						p.P127S	NM_001900	NP_001891	P28325	CYTD_HUMAN			3	446	-			127					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.379C>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	G	4.057	0.008337	0.07912	.	.	ENSG00000170367	ENST00000304710	T	0.30981	1.51	2.01	-0.247	0.13019	Proteinase inhibitor I25, cystatin (2);	0.211919	0.40818	N	0.001009	T	0.29914	0.0748	M	0.76002	2.32	0.09310	N	1	B	0.30741	0.293	B	0.34242	0.178	T	0.24261	-1.0165	10	0.56958	D	0.05	.	5.2954	0.15749	0.1503:0.2073:0.6424:0.0	.	127	P28325	CYTD_HUMAN	S	127	ENSP00000307132:P127S	ENSP00000307132:P127S	P	-	1	0	CST5	23804875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.070000	0.11523	-0.365000	0.08076	-1.688000	0.00730	CCC		PASS	0.478	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		18	44	18	44	---	---	---	---
APMAP	57136	broad.mit.edu	37	20	24952185	24952185	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:24952185C>T	ENST00000217456.2	-	5	739	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Missense_Mutation_p.G150E	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	150					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.G150E(1)									CAGGGGTCTCCCACACACAGG	0.493																																						uc002wty.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)GGG>GAG		chromosome 20 open reading frame 3							100.0	100.0	100.0					20																	24952185		2203	4300	6503	SO:0001583	missense	57136				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity	g.chr20:24952185C>T	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.449G>A	20.37:g.24952185C>T	ENSP00000217456:p.Gly150Glu					C20orf3_uc002wtz.2_Missense_Mutation_p.G150E|C20orf3_uc010zsw.1_Missense_Mutation_p.G150E	p.G150E	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN			5	550	-			150			Extracellular (Potential).		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	c.449G>A	CCDS13166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.826583|4.826583	0.90955|0.90955	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456;ENST00000447138|ENST00000451442	T;T|T	0.33216|0.33865	1.42;1.42|1.39	5.47|5.47	5.47|5.47	0.80525|0.80525	Six-bladed beta-propeller, TolB-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72606|0.72606	0.3481|0.3481	H|H	0.96604|0.96604	3.85|3.85	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	T|T	0.82088|0.82088	-0.0630|-0.0630	10|8	0.87932|0.87932	D|D	0|0	-26.6608|-26.6608	14.8269|14.8269	0.70120|0.70120	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150;134;150|.	Q9HDC9-2;A2A2F9;Q9HDC9|.	.;.;APMAP_HUMAN|.	E|R	150|135	ENSP00000217456:G150E;ENSP00000415373:G150E|ENSP00000395874:G135R	ENSP00000217456:G150E|ENSP00000395874:G135R	G|G	-|-	2|1	0|0	C20orf3|C20orf3	24900185|24900185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.857000|6.857000	0.75455|0.75455	2.563000|2.563000	0.86464|0.86464	0.561000|0.561000	0.74099|0.74099	GGG|GGA		PASS	0.493	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		33	63	33	63	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25198193	25198194	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:25198193_25198194GG>AA	ENST00000376652.4	+	9	1017_1018	c.854_855GG>AA	c.(853-855)aGG>aAA	p.R285K	Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000354989.5_Missense_Mutation_p.R268K|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R285K|ENTPD6_ENST00000360031.2_Missense_Mutation_p.R284K			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	285					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.R285K(2)|p.R285R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ATGTTTAACAGGACCTACAAGC	0.599																																						uc002wuj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(853-855)AGG>AAG|c.(853-855)AGG>AGA		ectonucleoside triphosphate diphosphohydrolase 6																																				SO:0001583	missense	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25198193G>A|g.chr20:25198194G>A	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	Exception_encountered	20.37:g.25198193_25198194delinsAA	ENSP00000365840:p.Arg285Lys					ENTPD6_uc010zsy.1_Missense_Mutation_p.R285K|ENTPD6_uc010gdj.1_Missense_Mutation_p.R257K|ENTPD6_uc010zsz.1_Missense_Mutation_p.R67K|ENTPD6_uc002wum.2_Missense_Mutation_p.R268K|ENTPD6_uc010zta.1_Missense_Mutation_p.R285K|ENTPD6_uc002wun.2_Missense_Mutation_p.R285K|ENTPD6_uc002wuk.2_Missense_Mutation_p.R284K|ENTPD6_uc002wul.2_Missense_Mutation_p.R284K|ENTPD6_uc010ztb.1_Missense_Mutation_p.R257K|ENTPD6_uc010ztc.1_Missense_Mutation_p.R257K|ENTPD6_uc002wuo.2_Missense_Mutation_p.R37K|ENTPD6_uc010ztd.1_Missense_Mutation_p.R67K|ENTPD6_uc010zsy.1_Silent_p.R285R|ENTPD6_uc010gdj.1_Silent_p.R257R|ENTPD6_uc010zsz.1_Silent_p.R67R|ENTPD6_uc002wum.2_Silent_p.R268R|ENTPD6_uc010zta.1_Silent_p.R285R|ENTPD6_uc002wun.2_Silent_p.R285R|ENTPD6_uc002wuk.2_Silent_p.R284R|ENTPD6_uc002wul.2_Silent_p.R284R|ENTPD6_uc010ztb.1_Silent_p.R257R|ENTPD6_uc010ztc.1_Silent_p.R257R|ENTPD6_uc002wuo.2_Silent_p.R37R|ENTPD6_uc010ztd.1_Silent_p.R67R	p.R285K|p.R285R	NM_001247	NP_001238	O75354	ENTP6_HUMAN			9	1034|1035	+			285			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation|Silent	SNP	ENST00000376652.4	37	c.854G>A|c.855G>A	CCDS13170.1																																																																																				PASS	0.599	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			21|22	37|36	21	36	---	---	---	---
DEFB116	245930	broad.mit.edu	37	20	29891155	29891155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:29891155G>A	ENST00000400549.1	-	2	168	c.169C>T	c.(169-171)Caa>Taa	p.Q57*		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	57					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Q57*(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTAAGTATTGGATTTCATAT	0.438																																						uc010ztm.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(169-171)CAA>TAA		beta-defensin 116 precursor							356.0	315.0	328.0					20																	29891155		1863	4091	5954	SO:0001587	stop_gained	245930				defense response to bacterium	extracellular region		g.chr20:29891155G>A	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.169C>T	20.37:g.29891155G>A	ENSP00000383396:p.Gln57*						p.Q57*	NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	169	-	all_hematologic(12;0.158)		57						Nonsense_Mutation	SNP	ENST00000400549.1	37	c.169C>T	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602630	0.28534	.	.	ENSG00000215545	ENST00000400549	.	.	.	3.43	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.0054	8.7406	0.34556	0.0:0.2326:0.7674:0.0	.	.	.	.	X	57	.	ENSP00000383396:Q57X	Q	-	1	0	DEFB116	29354816	0.704000	0.27836	0.065000	0.19835	0.316000	0.28119	1.858000	0.39408	1.008000	0.39264	0.655000	0.94253	CAA		PASS	0.438	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		76	145	76	145	---	---	---	---
DEFB119	245932	broad.mit.edu	37	20	29965061	29965061	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:29965061T>A	ENST00000376321.3	-	2	362	c.243A>T	c.(241-243)ccA>ccT	p.P81P	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	81					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.P81P(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGTAGTCTTGGCCACTGCT	0.483																																						uc002wvt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CCA>CCT		defensin, beta 119 isoform a precursor							181.0	146.0	158.0					20																	29965061		2203	4300	6503	SO:0001819	synonymous_variant	245932				defense response to bacterium	extracellular region		g.chr20:29965061T>A	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.243A>T	20.37:g.29965061T>A						DEFB119_uc002wvs.2_3'UTR	p.P81P	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	363	-	all_hematologic(12;0.158)		81					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Silent	SNP	ENST00000376321.3	37	c.243A>T	CCDS13178.1																																																																																				PASS	0.483	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		36	59	36	59	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30070255	30070255	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:30070255G>A	ENST00000201979.2	+	4	882	c.589G>A	c.(589-591)Gca>Aca	p.A197T		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	197					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.A197T(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCAACAAGGCAGACTTGGC	0.632																																						uc002wwa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(589-591)GCA>ACA		RAS-like GTP-binding protein REM							79.0	71.0	74.0					20																	30070255		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070255G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.589G>A	20.37:g.30070255G>A	ENSP00000201979:p.Ala197Thr						p.A197T	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	873	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		197			GTP (By similarity).		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.589G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972288	0.53614	.	.	ENSG00000088320	ENST00000201979	T	0.80123	-1.34	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.202993	0.40064	N	0.001192	T	0.56352	0.1979	N	0.03967	-0.31	0.45662	D	0.998587	B	0.18310	0.027	B	0.23275	0.045	T	0.54662	-0.8260	10	0.34782	T	0.22	.	4.6483	0.12582	0.163:0.0:0.6522:0.1848	.	197	O75628	REM1_HUMAN	T	197	ENSP00000201979:A197T	ENSP00000201979:A197T	A	+	1	0	REM1	29533916	1.000000	0.71417	0.994000	0.49952	0.869000	0.49853	3.501000	0.53325	2.577000	0.86979	0.563000	0.77884	GCA		PASS	0.632	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		8	39	8	39	---	---	---	---
DUSP15	128853	broad.mit.edu	37	20	30450427	30450427	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:30450427T>C	ENST00000278979.3	-	6	449	c.373A>G	c.(373-375)Aac>Gac	p.N125D	DUSP15_ENST00000486996.1_Missense_Mutation_p.N25D|DUSP15_ENST00000398084.2_Missense_Mutation_p.N25D|DUSP15_ENST00000339738.5_Missense_Mutation_p.N128D|DUSP15_ENST00000375966.4_Missense_Mutation_p.N125D|DUSP15_ENST00000398083.1_Missense_Mutation_p.N25D|DUSP15_ENST00000493115.1_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	125	Tyrosine-protein phosphatase.				positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N125D(1)|p.N128D(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGCCTGGGTTGGGGTTGGCG	0.612																																						uc002wwu.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(373-375)AAC>GAC		RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;							121.0	103.0	109.0					20																	30450427		2203	4300	6503	SO:0001583	missense	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30450427T>C		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.373A>G	20.37:g.30450427T>C	ENSP00000278979:p.Asn125Asp					DUSP15_uc002wwv.1_Missense_Mutation_p.N25D|DUSP15_uc002www.1_Missense_Mutation_p.N25D|DUSP15_uc002wwx.1_Missense_Mutation_p.N128D	p.N125D			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		6	450	-			125			Tyrosine-protein phosphatase.		A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37	c.373A>G		.	.	.	.	.	.	.	.	.	.	T	24.8	4.568778	0.86439	.	.	ENSG00000149599	ENST00000278979;ENST00000398084;ENST00000339738;ENST00000486996;ENST00000375966;ENST00000398083	T;T;T;T;T;T	0.65732	-0.17;0.98;-0.17;0.98;-0.17;0.98	4.77	3.64	0.41730	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	H	0.99859	4.855	0.41430	D	0.98785	D;P;D	0.89917	0.998;0.93;1.0	D;P;D	0.87578	0.988;0.71;0.998	D	0.88244	0.2912	10	0.87932	D	0	.	9.1641	0.37041	0.0:0.0:0.1842:0.8158	.	128;25;125	Q9H1R2-3;A8MVC8;Q9H1R2	.;.;DUS15_HUMAN	D	125;25;128;25;125;25	ENSP00000278979:N125D;ENSP00000381158:N25D;ENSP00000341658:N128D;ENSP00000419818:N25D;ENSP00000365133:N125D;ENSP00000381157:N25D	ENSP00000278979:N125D	N	-	1	0	DUSP15	29914088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.936000	0.63506	0.651000	0.30788	0.459000	0.35465	AAC		PASS	0.612	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		20	60	20	60	---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584351	30584352	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:30584351_30584352GG>AA	ENST00000562532.2	+	3	1005_1006	c.831_832GG>AA	c.(829-834)ctGGcc>ctAAcc	p.A278T		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	278						integral component of membrane (GO:0016021)		p.A278T(2)|p.L277L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTGGACGCTGGCCTCCTACCA	0.698																																						uc002wxe.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)|skin(1)	3						c.(829-831)CTG>CTA|c.(832-834)GCC>ACC		XK, Kell blood group complex subunit-related																																				SO:0001583	missense	343702					integral to membrane		g.chr20:30584351G>A|g.chr20:30584352G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	Exception_encountered	20.37:g.30584351_30584352delinsAA	ENSP00000477059:p.Ala278Thr						p.L277L|p.A278T	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1005|1006	+			277|278			Helical; (Potential).		Q9NUG5	Silent|Missense_Mutation	SNP	ENST00000562532.2	37	c.831G>A|c.832G>A	CCDS33459.1																																																																																				PASS	0.698	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		9|10	10	9	10	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31021323	31021323	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:31021323C>T	ENST00000375687.4	+	12	1746	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	ASXL1_ENST00000306058.5_Missense_Mutation_p.S436F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	441	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S441F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GATGCAAAATCTGTGGCCTCA	0.537			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1321-1323)TCT>TTT		additional sex combs like 1 isoform 1							99.0	97.0	98.0					20																	31021323		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021323C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1322C>T	20.37:g.31021323C>T	ENSP00000364839:p.Ser441Phe					ASXL1_uc010geb.2_Missense_Mutation_p.S332F	p.S441F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	1748	+			441					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1322C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131527	0.56828	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17213	2.3;2.29	4.28	3.3	0.37823	.	0.454348	0.25848	N	0.027904	T	0.26955	0.0660	L	0.60455	1.87	0.44036	D	0.996761	D;P	0.54397	0.966;0.883	P;B	0.50440	0.641;0.26	T	0.08066	-1.0740	10	0.66056	D	0.02	-4.5277	14.2159	0.65792	0.0:0.8494:0.1506:0.0	.	436;441	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	441;441;441;380;436	ENSP00000364839:S441F;ENSP00000305119:S436F	ENSP00000305119:S436F	S	+	2	0	ASXL1	30484984	0.378000	0.25114	0.370000	0.25965	0.942000	0.58702	3.389000	0.52516	1.093000	0.41377	0.655000	0.94253	TCT		PASS	0.537	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		53	78	53	78	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31023865	31023866	+	Missense_Mutation	DNP	CC	CC	TT	rs373603259		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:31023865_31023866CC>TT	ENST00000375687.4	+	13	3774_3775	c.3350_3351CC>TT	c.(3349-3351)cCC>cTT	p.P1117L	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1112L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1117					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P1117L(2)|p.P1117P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGTAGCTTGCCCCTAGAGAAGG	0.554			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3349-3351)CCC>CTC|c.(3349-3351)CCC>CCT		additional sex combs like 1 isoform 1																																				SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023865C>T|g.chr20:31023866C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	Exception_encountered	20.37:g.31023865_31023866delinsTT	ENSP00000364839:p.Pro1117Leu					ASXL1_uc010geb.2_Missense_Mutation_p.P1008L|ASXL1_uc010geb.2_Silent_p.P1008P	p.P1117L|p.P1117P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3776|3777	+			1117					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation|Silent	SNP	ENST00000375687.4	37	c.3350C>T|c.3351C>T	CCDS13201.1																																																																																				PASS	0.554	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		18	36|38	18	36	---	---	---	---
BPIFB3	359710	broad.mit.edu	37	20	31659915	31659915	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:31659915G>A	ENST00000375494.3	+	13	1266	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	422					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.S422S(1)									TGCAGGGATCGCGTTTAGAAG	0.567																																						uc002wym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1264-1266)TCG>TCA		antimicrobial peptide RYA3 precursor							185.0	128.0	147.0					20																	31659915		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31659915G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1266G>A	20.37:g.31659915G>A							p.S422S	NM_182658	NP_872599	P59826	LPLC3_HUMAN			13	1266	+			422					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.1266G>A	CCDS13212.1																																																																																				PASS	0.567	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		19	24	19	24	---	---	---	---
BPIFA2	140683	broad.mit.edu	37	20	31757060	31757060	+	Missense_Mutation	SNP	G	G	A	rs267605885		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:31757060G>A	ENST00000253362.2	+	2	255	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	BPIFA2_ENST00000354932.5_Missense_Mutation_p.E37K			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	37						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)	p.E37K(1)									GGATAAGCTGGAACCTGTTCT	0.458																																						uc002wyo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(109-111)GAA>AAA		chromosome 20 open reading frame 70 precursor							162.0	133.0	143.0					20																	31757060		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31757060G>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.109G>A	20.37:g.31757060G>A	ENSP00000253362:p.Glu37Lys						p.E37K	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			2	180	+			37					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.109G>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805171	0.02819	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.11063	2.81;2.81	4.58	-1.5	0.08691	.	1.392110	0.04581	N	0.394926	T	0.02156	0.0067	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44174	-0.9345	10	0.02654	T	1	-2.0458	8.728	0.34480	0.5313:0.0:0.4687:0.0	.	37	Q96DR5	BPIA2_HUMAN	K	37	ENSP00000253362:E37K;ENSP00000347012:E37K	ENSP00000253362:E37K	E	+	1	0	BPIFA2	31220721	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.385000	0.07379	-0.285000	0.09089	-0.238000	0.12139	GAA		PASS	0.458	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		27	53	27	53	---	---	---	---
BPIFA2	140683	broad.mit.edu	37	20	31763316	31763316	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:31763316G>A	ENST00000253362.2	+	5	660	c.514G>A	c.(514-516)Gga>Aga	p.G172R	BPIFA2_ENST00000354932.5_Missense_Mutation_p.G172R			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	172				G -> R (in Ref. 1; AAL28113). {ECO:0000305}.		extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)	p.G172R(1)									TGCCGTCCTGGGAGAATGCGC	0.527																																						uc002wyo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(514-516)GGA>AGA		chromosome 20 open reading frame 70 precursor							191.0	167.0	175.0					20																	31763316		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31763316G>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.514G>A	20.37:g.31763316G>A	ENSP00000253362:p.Gly172Arg						p.G172R	NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN			5	585	+			172	G -> R (in Ref. 1; AAL28113).				Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.514G>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811521	0.50527	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.06294	3.32;3.32	4.08	-1.11	0.09840	.	0.816344	0.10856	N	0.626653	T	0.09468	0.0233	M	0.75264	2.295	0.09310	N	1	P	0.40266	0.71	B	0.42851	0.4	T	0.20174	-1.0283	10	0.72032	D	0.01	-4.7697	3.09	0.06290	0.4468:0.0:0.3586:0.1946	.	172	Q96DR5	BPIA2_HUMAN	R	172	ENSP00000253362:G172R;ENSP00000347012:G172R	ENSP00000253362:G172R	G	+	1	0	BPIFA2	31226977	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	0.263000	0.18478	-0.155000	0.11098	0.555000	0.69702	GGA		PASS	0.527	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		58	90	58	90	---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32340998	32340998	+	Silent	SNP	C	C	T	rs370639161		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:32340998C>T	ENST00000375200.1	+	5	875	c.510C>T	c.(508-510)tcC>tcT	p.S170S	ZNF341_ENST00000342427.2_Silent_p.S170S	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	170	Pro-rich.				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.S170S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ACATGCATTCCGTGCCCAGCT	0.537																																						uc002wzy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(508-510)TCC>TCT		zinc finger protein 341		C		0,4406		0,0,2203	81.0	86.0	84.0		510	-10.5	0.6	20		84	1,8599		0,1,4299	no	coding-synonymous	ZNF341	NM_032819.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		170/848	32340998	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32340998C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.510C>T	20.37:g.32340998C>T						ZNF341_uc002wzx.2_Silent_p.S170S|ZNF341_uc010geq.2_Silent_p.S80S|ZNF341_uc010ger.2_RNA	p.S170S	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			5	530	+			170			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.510C>T																																																																																					PASS	0.537	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				21	50	21	50	---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33067442	33067442	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:33067442T>A	ENST00000262650.6	+	19	1925	c.1789T>A	c.(1789-1791)Ttc>Atc	p.F597I	ITCH_ENST00000535650.1_Missense_Mutation_p.F446I|ITCH_ENST00000374864.4_Missense_Mutation_p.F556I|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	597	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.F556I(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAGAGAATGGTTCTTTCTTTT	0.368																																						uc010geu.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|lung(1)|central_nervous_system(1)	6						c.(1789-1791)TTC>ATC		itchy homolog E3 ubiquitin protein ligase							127.0	113.0	118.0					20																	33067442		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33067442T>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1789T>A	20.37:g.33067442T>A	ENSP00000262650:p.Phe597Ile					ITCH_uc002xak.2_Missense_Mutation_p.F556I|ITCH_uc010zuj.1_Missense_Mutation_p.F446I	p.F597I	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			19	1981	+			597			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1789T>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007769	0.93287	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.55413	0.52;0.52;0.52	4.64	4.64	0.57946	HECT (3);	0.095927	0.64402	D	0.000001	T	0.72827	0.3509	M	0.86343	2.81	0.80722	D	1	D;D;D	0.63046	0.971;0.992;0.988	P;P;P	0.61201	0.885;0.814;0.876	T	0.79257	-0.1878	10	0.87932	D	0	.	14.1579	0.65428	0.0:0.0:0.0:1.0	.	508;597;556	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	I	556;446;597	ENSP00000363998:F556I;ENSP00000445608:F446I;ENSP00000262650:F597I	ENSP00000262650:F597I	F	+	1	0	ITCH	32531103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.820000	0.86633	2.087000	0.62958	0.477000	0.44152	TTC		PASS	0.368	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			23	29	23	29	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33330887	33330887	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:33330887C>T	ENST00000374796.2	-	12	5743	c.3173G>A	c.(3172-3174)aGg>aAg	p.R1058K	NCOA6_ENST00000359003.2_Missense_Mutation_p.R1058K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1058	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R1058K(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CAGGGGGCCCCTTGGAGGATG	0.552																																						uc002xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(3172-3174)AGG>AAG		nuclear receptor coactivator 6							123.0	127.0	126.0					20																	33330887		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330887C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3173G>A	20.37:g.33330887C>T	ENSP00000363929:p.Arg1058Lys					NCOA6_uc002xaw.2_Missense_Mutation_p.R1058K	p.R1058K	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	5744	-			1058			NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.3173G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088908	0.55968	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.28069	1.63;1.63	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.18964	0.0455	N	0.12746	0.255	0.45791	D	0.998677	B	0.25772	0.134	B	0.20577	0.03	T	0.09335	-1.0679	10	0.12103	T	0.63	-8.5542	18.2891	0.90123	0.0:1.0:0.0:0.0	.	1058	Q14686	NCOA6_HUMAN	K	1058	ENSP00000363929:R1058K;ENSP00000351894:R1058K	ENSP00000351894:R1058K	R	-	2	0	NCOA6	32794548	0.619000	0.27059	0.105000	0.21289	0.686000	0.39977	5.452000	0.66638	2.756000	0.94617	0.563000	0.77884	AGG		PASS	0.552	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		48	55	48	55	---	---	---	---
GGT7	2686	broad.mit.edu	37	20	33449261	33449261	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:33449261G>A	ENST00000336431.5	-	4	706	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	221					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.S221F(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGTCTCCCAGGATCTTTGCAG	0.527																																						uc002xay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)TCC>TTC		gamma-glutamyltransferase 7							47.0	49.0	49.0					20																	33449261		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33449261G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.662C>T	20.37:g.33449261G>A	ENSP00000338964:p.Ser221Phe					GGT7_uc002xaz.1_Missense_Mutation_p.S238F|GGT7_uc002xba.1_Missense_Mutation_p.S221F	p.S221F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			4	705	-			221			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.662C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026047	0.35701	.	.	ENSG00000131067	ENST00000336431	T	0.06768	3.26	5.74	3.69	0.42338	.	0.302298	0.37012	N	0.002300	T	0.09598	0.0236	L	0.57536	1.79	0.31475	N	0.667911	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.02797	-1.1109	10	0.72032	D	0.01	-0.0437	7.9088	0.29778	0.0771:0.0:0.663:0.2599	.	221;221;221	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	F	221	ENSP00000338964:S221F	ENSP00000338964:S221F	S	-	2	0	GGT7	32912922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.535000	0.36061	1.425000	0.47237	0.655000	0.94253	TCC		PASS	0.527	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		13	35	13	35	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33575706	33575706	+	Missense_Mutation	SNP	G	G	A	rs202169408		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:33575706G>A	ENST00000262873.7	+	16	1623	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	469	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E511K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCTGGGTTTGAGATCTTTGA	0.602																																						uc002xbi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1531-1533)GAG>AAG		myosin, heavy polypeptide 7B, cardiac muscle,							53.0	61.0	58.0					20																	33575706		2156	4284	6440	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575706G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1531G>A	20.37:g.33575706G>A	ENSP00000262873:p.Glu511Lys					MIR499_hsa-mir-499|MI0003183_5'Flank	p.E511K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1623	+			469			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1531G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080592	0.94050	.	.	ENSG00000078814	ENST00000262873	T	0.80480	-1.38	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.36303	N	0.002674	D	0.95310	0.8478	H	0.99981	5.195	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97849	1.0273	10	0.87932	D	0	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	469	A7E2Y1	MYH7B_HUMAN	K	511	ENSP00000262873:E511K	ENSP00000262873:E511K	E	+	1	0	MYH7B	33039367	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GAG		PASS	0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		34	54	34	54	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875038	33875038	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:33875038G>A	ENST00000374408.3	-	4	1640	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	515								p.P515L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCGGGCTCTGGGGAAGGGGAC	0.632																																						uc010zux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1543-1545)CCC>CTC		hypothetical protein LOC128876							50.0	50.0	50.0					20																	33875038		2139	4199	6338	SO:0001583	missense	128876							g.chr20:33875038G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1544C>T	20.37:g.33875038G>A	ENSP00000363529:p.Pro515Leu					EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P170L	p.P515L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1662	-			515					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1544C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927015	0.34002	.	.	ENSG00000125998	ENST00000374408	T	0.08896	3.04	4.14	3.19	0.36642	.	0.875003	0.09961	N	0.733415	T	0.10208	0.0250	L	0.53249	1.67	0.38814	D	0.955496	B	0.02656	0.0	B	0.04013	0.001	T	0.06320	-1.0833	10	0.72032	D	0.01	0.9688	7.5338	0.27697	0.1181:0.0:0.8819:0.0	.	515	Q9BQN1	FA83C_HUMAN	L	515	ENSP00000363529:P515L	ENSP00000363529:P515L	P	-	2	0	FAM83C	33338452	1.000000	0.71417	0.943000	0.38184	0.888000	0.51559	3.060000	0.49955	1.096000	0.41439	0.561000	0.74099	CCC		PASS	0.632	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			18	30	18	30	---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34025560	34025560	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:34025560C>T	ENST00000374372.1	-	3	652	c.149G>A	c.(148-150)aGg>aAg	p.R50K	GDF5_ENST00000374369.3_Missense_Mutation_p.R50K			P43026	GDF5_HUMAN	growth differentiation factor 5	50					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.R50K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGGGGGGGCCTCTCCTTGGC	0.652																																						uc002xck.1																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)AGG>AAG		growth differentiation factor 5 preproprotein							14.0	15.0	15.0					20																	34025560		2203	4297	6500	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025560C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.149G>A	20.37:g.34025560C>T	ENSP00000363492:p.Arg50Lys					GDF5_uc010gfc.1_Missense_Mutation_p.R50K|GDF5_uc010zvc.1_Missense_Mutation_p.R50K	p.R50K	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		1	468	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		50					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.149G>A	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692197	0.68271	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.29655	1.56;1.56	4.59	3.65	0.41850	.	1.479880	0.03956	N	0.289253	T	0.29652	0.0740	L	0.29908	0.895	0.33199	D	0.551931	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.20940	-1.0260	10	0.62326	D	0.03	.	12.6304	0.56655	0.0:0.9189:0.0:0.0811	.	50;50	F1T0J1;P43026	.;GDF5_HUMAN	K	50	ENSP00000363489:R50K;ENSP00000363492:R50K	ENSP00000363489:R50K	R	-	2	0	GDF5	33488974	0.988000	0.35896	0.965000	0.40720	0.926000	0.56050	1.663000	0.37429	1.140000	0.42260	0.313000	0.20887	AGG		PASS	0.652	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			8	8	8	8	---	---	---	---
CPNE1	8904	broad.mit.edu	37	20	34219078	34219078	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:34219078G>A	ENST00000317619.3	-	12	1213	c.819C>T	c.(817-819)tcC>tcT	p.S273S	CPNE1_ENST00000397442.1_Silent_p.S273S|CPNE1_ENST00000317677.5_Silent_p.S278S|CPNE1_ENST00000397445.1_Silent_p.S273S|CPNE1_ENST00000352393.4_Silent_p.S273S|CPNE1_ENST00000397443.1_Silent_p.S273S|CPNE1_ENST00000397446.1_Silent_p.S273S			Q99829	CPNE1_HUMAN	copine I	273					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S273S(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGTCCAGAAAGGAGTACTCTG	0.502																																						uc002xdf.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(817-819)TCC>TCT		copine I isoform a							212.0	207.0	208.0					20																	34219078		2203	4300	6503	SO:0001819	synonymous_variant	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34219078G>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.819C>T	20.37:g.34219078G>A						CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Silent_p.S278S|CPNE1_uc002xde.2_Silent_p.S249S|CPNE1_uc002xdg.2_Silent_p.S273S|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.S273S|CPNE1_uc002xdi.2_Silent_p.S273S|CPNE1_uc002xdj.2_Silent_p.S273S|CPNE1_uc002xdk.2_Silent_p.S273S|CPNE1_uc002xdl.2_Silent_p.S273S|CPNE1_uc002xdm.2_Silent_p.S273S|CPNE1_uc010gfk.1_Silent_p.S273S	p.S273S	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		12	1182	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		273					E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	ENST00000317619.3	37	c.819C>T	CCDS13260.1																																																																																				PASS	0.502	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		85	132	85	132	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35060414	35060414	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:35060414C>T	ENST00000373907.2	+	2	493	c.294C>T	c.(292-294)aaC>aaT	p.N98N	DLGAP4_ENST00000339266.5_Silent_p.N98N|DLGAP4_ENST00000373913.3_Silent_p.N98N|DLGAP4_ENST00000401952.2_Silent_p.N98N			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	98					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.N98N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAGATCAACCGGCTGCCCG	0.642																																						uc002xff.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(292-294)AAC>AAT		disks large-associated protein 4 isoform a							74.0	77.0	76.0					20																	35060414		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060414C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.294C>T	20.37:g.35060414C>T						DLGAP4_uc010zvp.1_Silent_p.N98N	p.N98N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			3	729	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	98					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.294C>T																																																																																					PASS	0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		9	20	9	20	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35437024	35437024	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:35437024G>A	ENST00000357779.3	-	8	2318	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	SOGA1_ENST00000456801.2_Silent_p.S505S|SOGA1_ENST00000237536.4_Silent_p.S902S|SOGA1_ENST00000279034.6_Silent_p.S664S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	664					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S902S(3)|p.S664S(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGAATTGCTGGGACTCCTGCA	0.582											OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xgd.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1990-1992)TCC>TCT		hypothetical protein LOC140710 isoform 2							49.0	54.0	52.0					20																	35437024		1998	4169	6167	SO:0001819	synonymous_variant	140710							g.chr20:35437024G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1992C>T	20.37:g.35437024G>A			OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	855	C20orf117_uc002xge.1_RNA	p.S664S	NM_199181	NP_954650	O94964	K0889_HUMAN			8	2319	-		Myeloproliferative disorder(115;0.00874)	664					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1992C>T																																																																																					PASS	0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		7	12	7	12	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36856635	36856635	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:36856635C>G	ENST00000279024.4	-	6	2150	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	627								p.D627H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTGGCTTTATCTTCAGGCCTG	0.617																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1879-1881)GAT>CAT		hypothetical protein LOC85449							43.0	39.0	40.0					20																	36856635		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36856635C>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1879G>C	20.37:g.36856635C>G	ENSP00000279024:p.Asp627His					KIAA1755_uc002xhz.1_Missense_Mutation_p.D627H	p.D627H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			6	2151	-		Myeloproliferative disorder(115;0.00874)	627					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.1879G>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320350	0.60634	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.21734	1.99	4.8	3.86	0.44501	.	0.920065	0.09112	N	0.846949	T	0.34308	0.0893	M	0.65975	2.015	0.36507	D	0.869345	D	0.56746	0.977	P	0.54460	0.753	T	0.20840	-1.0263	10	0.15066	T	0.55	.	10.5931	0.45321	0.0:0.9072:0.0:0.0928	.	627	Q5JYT7	K1755_HUMAN	H	627;174	ENSP00000279024:D627H	ENSP00000279024:D627H	D	-	1	0	KIAA1755	36290049	0.622000	0.27085	0.978000	0.43139	0.743000	0.42351	1.127000	0.31357	1.249000	0.43950	0.655000	0.94253	GAT		PASS	0.617	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		8	6	8	6	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37121775	37121775	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:37121775G>A	ENST00000262879.6	+	3	673	c.389G>A	c.(388-390)aGa>aAa	p.R130K	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Splice_Site_p.R130K|RALGAPB_ENST00000397042.3_Splice_Site_p.R130K|RALGAPB_ENST00000537204.1_Splice_Site_p.R130K			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	130					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R130K(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTGTACCAAGGTAAGCTATA	0.338																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(388-390)AGA>AAA		Ral GTPase activating protein, beta subunit							75.0	74.0	74.0					20																	37121775		2203	4300	6503	SO:0001630	splice_region_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121775G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.389+1G>A	20.37:g.37121775G>A						RALGAPB_uc010zvz.1_Missense_Mutation_p.R130K|RALGAPB_uc002xix.2_Missense_Mutation_p.R130K|RALGAPB_uc002xiy.1_Missense_Mutation_p.R130K|RALGAPB_uc002xiz.2_5'UTR	p.R130K	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			3	646	+			130					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.389G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556854	0.86231	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	M	0.67953	2.075	0.80722	D	1	P;B;B;B	0.35656	0.514;0.143;0.229;0.229	B;B;B;B	0.35278	0.199;0.117;0.131;0.131	T	0.65776	-0.6086	9	0.49607	T	0.09	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	130;130;130;130	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	K	130	.	ENSP00000262879:R130K	R	+	2	0	RALGAPB	36555189	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	AGA		PASS	0.338	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Missense_Mutation	7	21	7	21	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40052232	40052232	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:40052232G>A	ENST00000373233.3	-	30	4632	c.4455C>T	c.(4453-4455)tcC>tcT	p.S1485S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1485	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.S1485S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTCCAAACGGGAAATGATGC	0.448																																						uc002xka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4453-4455)TCC>TCT		chromodomain helicase DNA binding protein 6							169.0	179.0	175.0					20																	40052232		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052232G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4455C>T	20.37:g.40052232G>A							p.S1485S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			30	4633	-		Myeloproliferative disorder(115;0.00425)	1485					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4455C>T	CCDS13317.1																																																																																				PASS	0.448	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			72	137	72	137	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41419926	41419926	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:41419926C>T	ENST00000373187.1	-	3	394	c.395G>A	c.(394-396)gGg>gAg	p.G132E	PTPRT_ENST00000373193.3_Missense_Mutation_p.G132E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G132E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G132E|PTPRT_ENST00000373198.4_Missense_Mutation_p.G132E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G132E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G132E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	132	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G132E(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACAGGGTTCCCTTGGGGGCC	0.572																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(394-396)GGG>GAG		protein tyrosine phosphatase, receptor type, T							79.0	83.0	82.0					20																	41419926		1976	4168	6144	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41419926C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.395G>A	20.37:g.41419926C>T	ENSP00000362283:p.Gly132Glu					PTPRT_uc010ggj.2_Missense_Mutation_p.G132E	p.G132E	NM_007050	NP_008981	O14522	PTPRT_HUMAN			3	579	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	132			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.395G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233714	0.79688	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51;4.51;4.51	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00268	-1.1862	10	0.87932	D	0	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	132;132	O14522-1;O14522	.;PTPRT_HUMAN	E	132	ENSP00000362286:G132E;ENSP00000362283:G132E;ENSP00000362289:G132E;ENSP00000348408:G132E;ENSP00000362294:G132E;ENSP00000362280:G132E;ENSP00000362297:G132E	ENSP00000348408:G132E	G	-	2	0	PTPRT	40853340	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.999000	0.70665	2.676000	0.91093	0.561000	0.74099	GGG		PASS	0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			39	92	39	92	---	---	---	---
GDAP1L1	78997	broad.mit.edu	37	20	42885898	42885898	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:42885898G>A	ENST00000342560.5	+	2	374	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	96	GST N-terminal.							p.E96K(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACCTGGGCGAGGAGGTGCC	0.612																																						uc002xlq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(286-288)GAG>AAG		ganglioside-induced differentiation-associated							122.0	75.0	91.0					20																	42885898		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42885898G>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.286G>A	20.37:g.42885898G>A	ENSP00000341782:p.Glu96Lys					GDAP1L1_uc002xlp.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwl.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwm.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwn.1_Intron	p.E96K	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	353	+		Myeloproliferative disorder(115;0.0122)	96			GST N-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.286G>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.032983|5.032983	0.93575|0.93575	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952|ENST00000445952	T;T;T|.	0.62498|.	0.02;0.02;1.84|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0|.	D;D;D;D|.	0.83275|.	0.993;0.941;0.913;0.996|.	T|T	0.42816|0.42816	-0.9429|-0.9429	10|5	0.59425|.	D|.	0.04|.	.|.	19.3061|19.3061	0.94163|0.94163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;96;96;42|.	B7Z1I3;B7Z621;Q96MZ0;Q5JY50|.	.;.;GD1L1_HUMAN;.|.	K|Q	96;94;96;65;96;96|42	ENSP00000341782:E96K;ENSP00000392881:E96K;ENSP00000362043:E96K|.	ENSP00000341782:E96K|.	E|R	+|+	1|2	0|0	GDAP1L1|GDAP1L1	42319312|42319312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.229000|9.229000	0.95273|0.95273	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		11	12	11	12	---	---	---	---
GDAP1L1	78997	broad.mit.edu	37	20	42907844	42907844	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:42907844G>A	ENST00000342560.5	+	6	1096	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	GDAP1L1_ENST00000537864.1_Silent_p.R144R	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	336	GST C-terminal.							p.R336R(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGTCAAGAGGAAACCCCCAT	0.577																																						uc002xlq.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1006-1008)AGG>AGA		ganglioside-induced differentiation-associated							133.0	119.0	124.0					20																	42907844		2203	4300	6503	SO:0001819	synonymous_variant	78997							g.chr20:42907844G>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1008G>A	20.37:g.42907844G>A						GDAP1L1_uc010zwl.1_Silent_p.R355R|GDAP1L1_uc010zwm.1_Silent_p.R278R|GDAP1L1_uc010zwn.1_Silent_p.R144R	p.R336R	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1075	+		Myeloproliferative disorder(115;0.0122)	336			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	ENST00000342560.5	37	c.1008G>A	CCDS13328.1																																																																																				PASS	0.577	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		31	66	31	66	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836056	43836056	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:43836056C>T	ENST00000372781.3	+	2	175	c.118C>T	c.(118-120)Cca>Tca	p.P40S	SEMG1_ENST00000244069.6_Missense_Mutation_p.P40S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	40					insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.P40S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCCCAATTTCCACACGGACA	0.393																																						uc002xni.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(118-120)CCA>TCA		semenogelin I preproprotein							112.0	116.0	115.0					20																	43836056		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836056C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.118C>T	20.37:g.43836056C>T	ENSP00000361867:p.Pro40Ser					SEMG1_uc002xnj.2_Missense_Mutation_p.P40S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.P40S	p.P40S	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	175	+		Myeloproliferative disorder(115;0.0122)	40					Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.118C>T	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516463	0.27123	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.14022	2.54;2.54	2.05	-4.11	0.03928	.	.	.	.	.	T	0.25494	0.0620	M	0.72479	2.2	0.09310	N	1	D;B;D	0.89917	1.0;0.048;1.0	D;B;D	0.91635	0.998;0.016;0.999	T	0.14587	-1.0467	9	0.66056	D	0.02	.	0.6261	0.00786	0.1746:0.2601:0.1733:0.3921	.	40;40;40	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	S	40	ENSP00000244069:P40S;ENSP00000361867:P40S	ENSP00000244069:P40S	P	+	1	0	SEMG1	43269470	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.855000	0.04295	-1.393000	0.02079	0.460000	0.39030	CCA		PASS	0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		34	85	34	85	---	---	---	---
WFDC11	259239	broad.mit.edu	37	20	44277967	44277967	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:44277967C>T	ENST00000356562.2	-	4	393	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	WFDC11_ENST00000324384.3_Missense_Mutation_p.A58T			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	58						extracellular region (GO:0005576)		p.A58T(1)		endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CATCTAAAGGCTTTAGAACAC	0.398																																						uc002xpa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GCC>ACC		WAP four-disulfide core domain 11 precursor							236.0	209.0	218.0					20																	44277967		2203	4300	6503	SO:0001583	missense	259239					extracellular region		g.chr20:44277967C>T	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.172G>A	20.37:g.44277967C>T	ENSP00000348968:p.Ala58Thr						p.A58T	NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN			4	367	-		Myeloproliferative disorder(115;0.0122)	58					E1P624|Q5TGZ6	Missense_Mutation	SNP	ENST00000356562.2	37	c.172G>A	CCDS13364.1	.	.	.	.	.	.	.	.	.	.	C	0.932	-0.712292	0.03206	.	.	ENSG00000180083	ENST00000356562;ENST00000324384	T;T	0.29397	1.57;1.57	3.91	0.365	0.16131	.	1.446920	0.04547	N	0.389207	T	0.15089	0.0364	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19484	-1.0304	9	0.13108	T	0.6	-0.0292	3.3136	0.07025	0.0:0.2332:0.2095:0.5573	.	58	Q8NEX6	WFD11_HUMAN	T	58	ENSP00000348968:A58T;ENSP00000318753:A58T	ENSP00000318753:A58T	A	-	1	0	WFDC11	43711381	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.146000	0.10250	0.029000	0.15352	-1.078000	0.02229	GCC		PASS	0.398	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			40	73	40	73	---	---	---	---
ACOT8	10005	broad.mit.edu	37	20	44472967	44472967	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:44472967G>A	ENST00000217455.4	-	4	671	c.581C>T	c.(580-582)cCc>cTc	p.P194L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	194					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.P194L(1)		kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTGGCTCAGGGGGGATGGGTT	0.547																																						uc002xqa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(580-582)CCC>CTC		peroxisomal acyl-CoA thioesterase 1 isoform a							83.0	75.0	78.0					20																	44472967		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472967G>A	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.581C>T	20.37:g.44472967G>A	ENSP00000217455:p.Pro194Leu					ACOT8_uc010zxe.1_Missense_Mutation_p.P194L|ACOT8_uc002xqc.1_Missense_Mutation_p.P141L|ACOT8_uc010zxf.1_Missense_Mutation_p.P74L	p.P194L	NM_005469	NP_005460	O14734	ACOT8_HUMAN			4	662	-		Myeloproliferative disorder(115;0.0122)	194					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.581C>T	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.937|8.937	0.964987|0.964987	0.18583|0.18583	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455|ENST00000487205	.|.	.|.	.|.	5.57|5.57	-0.159|-0.159	0.13379|0.13379	.|.	0.862757|0.862757	0.10685|0.10685	N|N	0.645873|0.645873	T|T	0.17534|0.17534	0.0421|0.0421	L|L	0.28458|0.28458	0.855|0.855	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.20550|.	0.004;0.046;0.024;0.001|.	B;B;B;B|.	0.20577|.	0.03;0.027;0.021;0.003|.	T|T	0.23119|0.23119	-1.0197|-1.0197	9|7	0.40728|0.10111	T|T	0.16|0.7	.|.	0.3318|0.3318	0.00320|0.00320	0.2451:0.2242:0.2944:0.2363|0.2451:0.2242:0.2944:0.2363	.|.	74;194;141;194|.	E9PRD4;B4DLF4;A8K8X9;O14734|.	.;.;.;ACOT8_HUMAN|.	L|S	194|149	.|.	ENSP00000217455:P194L|ENSP00000419403:P149S	P|P	-|-	2|1	0|0	ACOT8|ACOT8	43906374|43906374	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.144000|0.144000	0.21451|0.21451	0.456000|0.456000	0.21859|0.21859	0.300000|0.300000	0.22699|0.22699	0.561000|0.561000	0.74099|0.74099	CCC|CCC		PASS	0.547	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		9	30	9	30	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506190	44506190	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:44506190G>A	ENST00000255152.2	+	2	1202	c.993G>A	c.(991-993)atG>atA	p.M331I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.M325I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	331							zinc ion binding (GO:0008270)	p.M331I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAAGGCTCATGAAGGAAGCCC	0.512																																						uc002xqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(991-993)ATG>ATA		zinc finger, SWIM domain containing 3							87.0	88.0	88.0					20																	44506190		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506190G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.993G>A	20.37:g.44506190G>A	ENSP00000255152:p.Met331Ile					ZSWIM3_uc010zxg.1_Missense_Mutation_p.M325I	p.M331I	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	1196	+		Myeloproliferative disorder(115;0.0122)	331					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.993G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930588	0.52866	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23950	1.92;1.88	5.65	5.65	0.86999	.	0.059818	0.64402	D	0.000001	T	0.21145	0.0509	L	0.32530	0.975	0.43965	D	0.996647	P;P	0.44816	0.844;0.844	B;B	0.39904	0.313;0.313	T	0.02491	-1.1151	10	0.09338	T	0.73	-33.894	19.5069	0.95121	0.0:0.0:1.0:0.0	.	325;331	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	331;325	ENSP00000255152:M331I;ENSP00000406313:M325I	ENSP00000255152:M331I	M	+	3	0	ZSWIM3	43939597	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.055000	0.71103	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.512	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		16	45	16	45	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45133369	45133369	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:45133369G>A	ENST00000347606.4	-	3	214	c.32C>T	c.(31-33)tCa>tTa	p.S11L	ZNF334_ENST00000457685.2_5'UTR|ZNF334_ENST00000593880.1_Silent_p.F16F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	11	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.S11L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTCCTGGAATGAAACTGGTAT	0.443																																						uc002xsc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(31-33)TCA>TTA		zinc finger protein 334 isoform a							84.0	80.0	81.0					20																	45133369		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45133369G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.32C>T	20.37:g.45133369G>A	ENSP00000255129:p.Ser11Leu					ZNF334_uc002xsa.2_Silent_p.F16F|ZNF334_uc002xsb.2_5'UTR|ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_Missense_Mutation_p.S10L	p.S11L	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			3	216	-		Myeloproliferative disorder(115;0.0122)	11			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.32C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030843	0.54790	.	.	ENSG00000198185	ENST00000347606	T	0.01933	4.55	3.04	0.971	0.19698	Krueppel-associated box (4);	.	.	.	.	T	0.04634	0.0126	M	0.71920	2.185	0.21355	N	0.999719	P	0.37708	0.606	B	0.43575	0.424	T	0.30966	-0.9960	9	0.87932	D	0	.	4.9703	0.14111	0.127:0.0:0.6596:0.2134	.	11	Q9HCZ1	ZN334_HUMAN	L	11	ENSP00000255129:S11L	ENSP00000255129:S11L	S	-	2	0	ZNF334	44566776	0.553000	0.26513	0.675000	0.29917	0.912000	0.54170	1.701000	0.37825	0.582000	0.29556	0.591000	0.81541	TCA		PASS	0.443	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			29	45	29	45	---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45633653	45633653	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:45633653G>A	ENST00000327619.5	+	4	602	c.228G>A	c.(226-228)gcG>gcA	p.A76A	EYA2_ENST00000317304.6_Silent_p.A76A|EYA2_ENST00000357410.3_Silent_p.A76A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	76					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.A76A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGTACAGTGCGGGGATCCAGC	0.552																																					Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(226-228)GCG>GCA		eyes absent 2 isoform a							96.0	89.0	92.0					20																	45633653		2203	4300	6503	SO:0001819	synonymous_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633653G>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.228G>A	20.37:g.45633653G>A						EYA2_uc010ghp.2_Silent_p.A76A|EYA2_uc002xsn.2_Silent_p.A81A|EYA2_uc002xso.2_Silent_p.A76A|EYA2_uc002xsp.2_Silent_p.A76A|EYA2_uc002xsq.2_Silent_p.A76A	p.A76A	NM_005244	NP_005235	O00167	EYA2_HUMAN			4	602	+		Myeloproliferative disorder(115;0.0241)	76					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	c.228G>A	CCDS13403.1																																																																																				PASS	0.552	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		19	30	19	30	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47710733	47710733	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:47710733G>A	ENST00000262982.2	+	23	2627	c.2504G>A	c.(2503-2505)gGa>gAa	p.G835E	CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Missense_Mutation_p.G618E|CSE1L_ENST00000396192.3_Missense_Mutation_p.G779E	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	835					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.G835E(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AAGGTATCTGGAAATGTAGAG	0.318																																						uc002xty.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(2503-2505)GGA>GAA		CSE1 chromosome segregation 1-like protein							72.0	70.0	71.0					20																	47710733		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47710733G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2504G>A	20.37:g.47710733G>A	ENSP00000262982:p.Gly835Glu					CSE1L_uc010zyg.1_Missense_Mutation_p.G618E|CSE1L_uc010ghx.2_Missense_Mutation_p.G779E|CSE1L_uc010ghy.2_Missense_Mutation_p.G456E|CSE1L_uc010zyh.1_Missense_Mutation_p.G484E	p.G835E	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		23	2638	+			835					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2504G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970232	0.92855	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.68624	-0.34;-0.34;-0.34	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.998;0.985;0.991;0.998	D;D;D;P;D	0.68621	0.931;0.959;0.942;0.877;0.959	T	0.82741	-0.0307	10	0.35671	T	0.21	-18.0092	19.1636	0.93544	0.0:0.0:1.0:0.0	.	524;618;779;779;835	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	E	433;835;618;779	ENSP00000262982:G835E;ENSP00000446477:G618E;ENSP00000379495:G779E	ENSP00000262982:G835E	G	+	2	0	CSE1L	47144140	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.590000	0.87494	0.655000	0.94253	GGA		PASS	0.318	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		18	42	18	42	---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48497523	48497524	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:48497523_48497524CC>TT	ENST00000361573.2	+	13	1263_1264	c.1221_1222CC>TT	c.(1219-1224)ttCCgg>ttTTgg	p.R408W	SLC9A8_ENST00000541138.1_Missense_Mutation_p.R108W|SLC9A8_ENST00000417961.1_Missense_Mutation_p.R424W|SLC9A8_ENST00000539601.1_Missense_Mutation_p.R189W			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	408					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.R408W(2)|p.F407F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGAATTTCTTCCGGGATCATAA	0.411																																						uc002xuv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(1219-1221)TTC>TTT|c.(1222-1224)CGG>TGG		sodium/hydrogen exchanger 8																																				SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48497523C>T|g.chr20:48497524C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	Exception_encountered	20.37:g.48497523_48497524delinsTT	ENSP00000354966:p.Arg408Trp					SLC9A8_uc010zym.1_Silent_p.F107F|SLC9A8_uc010gic.2_Silent_p.F107F|SLC9A8_uc010gid.2_Silent_p.F31F|SLC9A8_uc010zym.1_Missense_Mutation_p.R108W|SLC9A8_uc010gic.2_Missense_Mutation_p.R108W|SLC9A8_uc010gid.2_Missense_Mutation_p.R32W	p.F407F|p.R408W	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		13	1431|1432	+			407|408					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent|Missense_Mutation	SNP	ENST00000361573.2	37	c.1221C>T|c.1222C>T	CCDS13421.1																																																																																				PASS	0.411	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		20|19	38	19	38	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49236648	49236648	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:49236648G>A	ENST00000327979.2	-	3	543	c.132C>T	c.(130-132)tcC>tcT	p.S44S	FAM65C_ENST00000535356.1_Silent_p.S48S|FAM65C_ENST00000045083.2_Silent_p.S44S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	44								p.S44S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGATCTCACGGAGTTCCTGT	0.567																																						uc002xvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(130-132)TCC>TCT		hypothetical protein LOC140876							89.0	80.0	83.0					20																	49236648		2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49236648G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.132C>T	20.37:g.49236648G>A						FAM65C_uc010zyt.1_Silent_p.S48S|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.S44S	p.S44S	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			3	450	-			44					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.132C>T	CCDS13431.2																																																																																				PASS	0.567	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			24	60	24	60	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49576168	49576168	+	5'Flank	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:49576168C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.I263I|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.I263I(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGCTGAAAATCGCTGCGGGTC	0.642																																						uc002xvy.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(787-789)ATC>ATT		molybdenum cofactor synthesis 3							51.0	58.0	56.0					20																	49576168		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576168C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576168C>T	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.I263I	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	806	+			263					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.789C>T	CCDS13434.1																																																																																				PASS	0.642	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		15	30	15	30	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406824	50406825	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:50406824_50406825GG>AA	ENST00000217086.4	-	2	2308_2309	c.2197_2198CC>TT	c.(2197-2199)CCa>TTa	p.P733L	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	733					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P733L(2)|p.P733S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACTTTCCCTGGGGCATCTAAG	0.609																																						uc002xwh.3																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2197-2199)CCA>CTA|c.(2197-2199)CCA>TCA		sal-like 4																																				SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406824G>A|g.chr20:50406825G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2197_2198delinsAA	20.37:g.50406824_50406825delinsAA	ENSP00000217086:p.Pro733Leu					SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	p.P733L|p.P733S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	2299|2298	-			733					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2198C>T|c.2197C>T	CCDS13438.1																																																																																				PASS	0.609	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			9	18|17	9	17	---	---	---	---
HMGB1P1	10357	broad.mit.edu	37	20	56063462	56063462	+	IGR	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:56063462C>T								RBM38 (79073 upstream) : CTCFL (7572 downstream)														p.D208N(1)									tcatcatcatcatcttcttca	0.373																																						uc010zzl.1																			1	Substitution - Missense(1)		lung(1)								c.(622-624)GAT>AAT		high-mobility group box 1-like 1							81.0	96.0	91.0					20																	56063462		2197	4290	6487	SO:0001628	intergenic_variant	0							g.chr20:56063462C>T																													20.37:g.56063462C>T							p.D208N	NM_001008735	NP_001008735					1	622	-									Missense_Mutation	SNP		37	c.622G>A																																																																																				0	PASS	0.373									16	22	16	22	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57767367	57767367	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:57767367G>A	ENST00000371030.2	+	1	1293	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	431							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K431K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCCCGGAAGACCGGGCTGT	0.647																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(1291-1293)AAG>AAA		zinc finger protein 831							23.0	29.0	27.0					20																	57767367		2057	4180	6237	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767367G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1293G>A	20.37:g.57767367G>A							p.K431K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1293	+	all_lung(29;0.0085)		431					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1293G>A	CCDS42894.1																																																																																				PASS	0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	6	7	6	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768720	57768720	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:57768720C>T	ENST00000371030.2	+	1	2646	c.2646C>T	c.(2644-2646)tcC>tcT	p.S882S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	882							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S882S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCTGGAGTCCTCTGGAGCCT	0.657																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(2644-2646)TCC>TCT		zinc finger protein 831							26.0	30.0	29.0					20																	57768720		1961	4158	6119	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768720C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2646C>T	20.37:g.57768720C>T							p.S882S	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2646	+	all_lung(29;0.0085)		882					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2646C>T	CCDS42894.1																																																																																				PASS	0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	10	5	10	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769121	57769121	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:57769121G>A	ENST00000371030.2	+	1	3047	c.3047G>A	c.(3046-3048)gGg>gAg	p.G1016E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1016							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G1016E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACAGGATGGGAGAAAAGGG	0.672																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(3046-3048)GGG>GAG		zinc finger protein 831							24.0	26.0	26.0					20																	57769121		1963	4157	6120	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769121G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3047G>A	20.37:g.57769121G>A	ENSP00000360069:p.Gly1016Glu						p.G1016E	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3047	+	all_lung(29;0.0085)		1016					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3047G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763433	0.15914	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.56	-4.86	0.03132	.	1.169050	0.06257	N	0.693085	T	0.02571	0.0078	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.47209	-0.9135	10	0.34782	T	0.22	0.0252	5.3315	0.15936	0.5136:0.0:0.3051:0.1813	.	1016	Q5JPB2	ZN831_HUMAN	E	1016	ENSP00000360069:G1016E	ENSP00000360069:G1016E	G	+	2	0	ZNF831	57202516	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.094000	0.03359	-0.737000	0.04824	-0.373000	0.07131	GGG		PASS	0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	10	10	10	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58475292	58475292	+	Silent	SNP	A	A	G	rs368540643		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:58475292A>G	ENST00000357552.3	-	18	1530	c.1305T>C	c.(1303-1305)gtT>gtC	p.V435V	SYCP2_ENST00000371001.2_Silent_p.V435V			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	435					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.V435V(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CCTTTAAACTAACGAGCTCTT	0.343																																						uc002yaz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)	5						c.(1303-1305)GTT>GTC		synaptonemal complex protein 2		A		0,4404		0,0,2202	93.0	88.0	89.0		1305	3.7	0.0	20		89	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SYCP2	NM_014258.2		0,1,6500	GG,GA,AA		0.0116,0.0,0.0077		435/1531	58475292	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58475292A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1305T>C	20.37:g.58475292A>G						SYCP2_uc010gju.1_Silent_p.V336V	p.V435V	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		17	1444	-	all_lung(29;0.00344)		435					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.1305T>C	CCDS13482.1																																																																																				PASS	0.343	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		15	29	15	29	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60470012	60470012	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:60470012G>A	ENST00000360469.5	+	8	1185	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	CDH4_ENST00000543233.1_Missense_Mutation_p.G292E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	366	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G366E(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GATATGGAAGGAAATCTCAAC	0.473																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(1096-1098)GGA>GAA		cadherin 4, type 1 preproprotein							220.0	184.0	196.0					20																	60470012		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60470012G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1097G>A	20.37:g.60470012G>A	ENSP00000353656:p.Gly366Glu					CDH4_uc002ybp.1_Missense_Mutation_p.G292E	p.G366E	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		8	1111	+			366			Extracellular (Potential).|Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1097G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784386	0.90282	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.62498	0.02;0.02	4.6	4.6	0.57074	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.77313	2.365	0.80722	D	1	P	0.46395	0.877	P	0.48524	0.58	T	0.74813	-0.3537	9	.	.	.	.	17.3945	0.87441	0.0:0.0:1.0:0.0	.	366	P55283	CADH4_HUMAN	E	366;274;292	ENSP00000353656:G366E;ENSP00000443301:G292E	.	G	+	2	0	CDH4	59903407	1.000000	0.71417	0.987000	0.45799	0.940000	0.58332	9.090000	0.94144	2.108000	0.64289	0.585000	0.79938	GGA		PASS	0.473	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		46	79	46	79	---	---	---	---
C20orf166	128826	broad.mit.edu	37	20	61167762	61167762	+	Missense_Mutation	SNP	C	C	T	rs375026064		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61167762C>T	ENST00000370527.3	+	4	1011	c.232C>T	c.(232-234)Cca>Tca	p.P78S	C20orf166_ENST00000370523.1_Missense_Mutation_p.P60S|C20orf166_ENST00000370524.2_Missense_Mutation_p.P60S	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166									p.P78S(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CCACAGTGCTCCAGTGTGTGA	0.522																																						uc011aaj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CCA>TCA		hypothetical protein LOC128826							54.0	57.0	56.0					20																	61167762		2045	4180	6225	SO:0001583	missense	128826							g.chr20:61167762C>T	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"""MIR133A2 host gene"""						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.232C>T	20.37:g.61167762C>T	ENSP00000359558:p.Pro78Ser						p.P78S	NM_178463	NP_848558	Q9H1L0	CT166_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		4	1011	+	Breast(26;1.04e-08)		78						Missense_Mutation	SNP	ENST00000370527.3	37	c.232C>T	CCDS46627.1	.	.	.	.	.	.	.	.	.	.	C	5.965	0.361996	0.11296	.	.	ENSG00000174407	ENST00000370527;ENST00000370524;ENST00000370523	T;T;T	0.35605	1.3;1.3;1.3	1.25	-2.5	0.06384	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17048	-1.0382	9	0.87932	D	0	.	0.076	0.00027	0.2479:0.2221:0.2488:0.2812	.	78	Q9H1L0	CT166_HUMAN	S	78;60;60	ENSP00000359558:P78S;ENSP00000359555:P60S;ENSP00000359554:P60S	ENSP00000359554:P60S	P	+	1	0	C20orf166	60578207	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.850000	0.00732	-1.385000	0.02101	0.313000	0.20887	CCA		PASS	0.522	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		11	32	11	32	---	---	---	---
MRGBP	55257	broad.mit.edu	37	20	61430920	61430921	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61430920_61430921CC>TT	ENST00000370487.3	+	5	611_612	c.540_541CC>TT	c.(538-543)agCCgg>agTTgg	p.R181W	OGFR-AS1_ENST00000431361.1_RNA	NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	181					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R181W(2)|p.S180S(1)									GGAAGCGCAGCCGGGTCACCGA	0.584																																						uc002ydi.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(538-540)AGC>AGT|c.(541-543)CGG>TGG		MRG-binding protein																																				SO:0001583	missense	55257				chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		g.chr20:61430920C>T|g.chr20:61430921C>T	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	Exception_encountered	20.37:g.61430920_61430921delinsTT	ENSP00000359518:p.Arg181Trp						p.S180S|p.R181W	NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN			5	611|612	+	Breast(26;3.65e-08)		180|181					A8C4L5	Silent|Missense_Mutation	SNP	ENST00000370487.3	37	c.540C>T|c.541C>T	CCDS13503.1																																																																																				PASS	0.584	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		27	68	27	68	---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61460130	61460130	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61460130G>A	ENST00000343916.3	+	18	918	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	305	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K305K(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGCCGGGCAAGGACGGCCAGA	0.697																																						uc002ydm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(913-915)AAG>AAA		alpha 3 type IX collagen precursor							53.0	48.0	50.0					20																	61460130		2201	4300	6501	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61460130G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.915G>A	20.37:g.61460130G>A							p.K305K	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			18	918	+	Breast(26;5.68e-08)		305			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.915G>A	CCDS13505.1																																																																																				PASS	0.697	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		4	12	4	12	---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61467684	61467684	+	Splice_Site	SNP	C	C	T	rs201337557		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61467684C>T	ENST00000343916.3	+	28	1550	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	516	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P516L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGAGTTCCGGTACGTCGC	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17241	0.0		0.0	False		,,,				2504	0.0					uc002ydm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1546-1548)CCG>CTG		alpha 3 type IX collagen precursor							36.0	44.0	41.0					20																	61467684		2203	4299	6502	SO:0001630	splice_region_variant	1299				axon guidance	collagen type IX		g.chr20:61467684C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1548+1C>T	20.37:g.61467684C>T						COL9A3_uc002ydn.2_5'Flank	p.P516L	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			28	1550	+	Breast(26;5.68e-08)		516			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1547C>T	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909641	0.72868	.	.	ENSG00000092758	ENST00000343916	D	0.96685	-4.09	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98227	1.0481	10	0.49607	T	0.09	.	17.4822	0.87675	0.0:1.0:0.0:0.0	.	516	Q14050	CO9A3_HUMAN	L	516	ENSP00000341640:P516L	ENSP00000341640:P516L	P	+	2	0	COL9A3	60938129	1.000000	0.71417	0.969000	0.41365	0.144000	0.21451	5.540000	0.67205	2.117000	0.64856	0.561000	0.74099	CCG		PASS	0.627	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853	Missense_Mutation	10	26	10	26	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61981026	61981026	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61981026C>T	ENST00000370263.4	-	5	1958	c.1737G>A	c.(1735-1737)aaG>aaA	p.K579K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	579					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.K579K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGTCTTCGGCCTTCAGGTGGT	0.657																																						uc002yes.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1735-1737)AAG>AAA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						53.0	61.0	58.0					20																	61981026		2201	4300	6501	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981026C>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1737G>A	20.37:g.61981026C>T						CHRNA4_uc002yet.1_Silent_p.K403K|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.K508K|CHRNA4_uc002yev.1_Silent_p.K403K|CHRNA4_uc010gkf.1_Silent_p.K403K	p.K579K	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	1915	-	all_cancers(38;1.71e-10)		579			Cytoplasmic (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1737G>A	CCDS13517.1																																																																																				PASS	0.657	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	26	14	26	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61982311	61982311	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:61982311C>A	ENST00000370263.4	-	5	673	c.452G>T	c.(451-453)tGg>tTg	p.W151L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	151					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.W151L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGGGGGAGTCCACTGCACCCG	0.612																																						uc002yes.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(451-453)TGG>TTG		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						68.0	65.0	66.0					20																	61982311		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982311C>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.452G>T	20.37:g.61982311C>A	ENSP00000359285:p.Trp151Leu					CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.W80L|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.W151L	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	630	-	all_cancers(38;1.71e-10)		151			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.452G>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977683	0.92982	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79247	-1.25	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93015	0.6435	10	0.87932	D	0	.	18.0032	0.89203	0.0:1.0:0.0:0.0	.	80;151	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	57;151;80	ENSP00000359285:W151L	ENSP00000359280:W57L	W	-	2	0	CHRNA4	61452755	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.653000	0.83643	2.227000	0.72691	0.561000	0.74099	TGG		PASS	0.612	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			14	31	14	31	---	---	---	---
HELZ2	85441	broad.mit.edu	37	20	62198494	62198494	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:62198494G>A	ENST00000467148.1	-	6	2286	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Silent_p.F170F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	739	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F739F(1)									AGTTCTCGTGGAAGACCAGGC	0.672																																						uc002yfm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(2215-2217)TTC>TTT		PPAR-alpha interacting complex protein 285							53.0	54.0	53.0					20																	62198494		2202	4297	6499	SO:0001819	synonymous_variant	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198494G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2217C>T	20.37:g.62198494G>A						PRIC285_uc002yfl.1_Silent_p.F170F	p.F739F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		7	3109	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		739					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2217C>T	CCDS33508.1																																																																																				PASS	0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		17	46	17	46	---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62319071	62319071	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:62319071C>T	ENST00000360203.5	+	17	1754	c.1429C>T	c.(1429-1431)Ctt>Ttt	p.L477F	RTEL1_ENST00000318100.4_Missense_Mutation_p.L477F|RTEL1_ENST00000508582.2_Missense_Mutation_p.L501F|RTEL1_ENST00000370018.3_Missense_Mutation_p.L477F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.L477F|RTEL1_ENST00000370003.1_5'Flank					regulator of telomere elongation helicase 1									p.L477F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTCCCTCATCCTTACCAGCGG	0.677																																						uc002yfu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1429-1431)CTT>TTT		regulator of telomere elongation helicase 1							30.0	25.0	27.0					20																	62319071		2187	4286	6473	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62319071C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1429C>T	20.37:g.62319071C>T	ENSP00000353332:p.Leu477Phe					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.L477F|RTEL1_uc011abd.1_Missense_Mutation_p.L501F|RTEL1_uc011abe.1_Missense_Mutation_p.L254F|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'Flank	p.L477F	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		17	1772	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		477						Missense_Mutation	SNP	ENST00000360203.5	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.902669	0.92035	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	M	0.90650	3.135	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.997;0.966	D	0.89561	0.3806	10	0.87932	D	0	-31.8706	12.0103	0.53282	0.0:0.9196:0.0:0.0804	.	501;477;477	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	F	477;477;501;477	ENSP00000359035:L477F;ENSP00000322287:L477F;ENSP00000424307:L501F;ENSP00000353332:L477F	ENSP00000353332:L477F	L	+	1	0	AL353715.1	61789515	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.987000	0.49378	2.505000	0.84491	0.561000	0.74099	CTT		PASS	0.677	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	5	4	5	---	---	---	---
TPD52L2	7165	broad.mit.edu	37	20	62520563	62520563	+	Missense_Mutation	SNP	C	C	T	rs150777439		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr20:62520563C>T	ENST00000346249.4	+	6	573	c.497C>T	c.(496-498)tCg>tTg	p.S166L	TPD52L2_ENST00000217121.5_Missense_Mutation_p.S189L|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S180L|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S146L|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S169L|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S160L|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S123L	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	166					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S189L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACCTTCAAGTCGTTTGAGGAC	0.483																																						uc002yhc.2																			2	Substitution - Missense(2)	p.S189L(1)	lung(1)|skin(1)	ovary(1)|skin(1)	2						c.(496-498)TCG>TTG		tumor protein D52-like 2 isoform e		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	138.0	113.0	121.0		497,437,566,506,539,479	5.3	0.9	20	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense,missense	TPD52L2	NM_003288.3,NM_199359.2,NM_199360.2,NM_199361.2,NM_199362.2,NM_199363.2	145,145,145,145,145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	166/207,146/187,189/230,169/210,180/221,160/201	62520563	2,13004	2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62520563C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.497C>T	20.37:g.62520563C>T	ENSP00000343547:p.Ser166Leu					TPD52L2_uc002ygy.2_Missense_Mutation_p.S189L|TPD52L2_uc002ygz.2_Missense_Mutation_p.S180L|TPD52L2_uc002yha.2_Missense_Mutation_p.S169L|TPD52L2_uc002yhb.2_Missense_Mutation_p.S160L|TPD52L2_uc002yhd.2_Missense_Mutation_p.S146L|TPD52L2_uc011abk.1_Missense_Mutation_p.S117L|TPD52L2_uc011abl.1_Missense_Mutation_p.S123L|TPD52L2_uc002yhe.2_Missense_Mutation_p.S65L	p.S166L	NM_003288	NP_003279	O43399	TPD54_HUMAN			6	626	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		166					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.497C>T	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966228	0.92855	0.0	2.33E-4	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.26	5.26	0.73747	.	0.073163	0.56097	D	0.000021	T	0.50411	0.1614	M	0.78637	2.42	0.54753	D	0.999988	P;P;P;P;P;B;B;P;P	0.51791	0.948;0.864;0.864;0.657;0.864;0.156;0.159;0.734;0.864	P;P;P;B;P;B;B;B;P	0.48982	0.597;0.458;0.458;0.365;0.458;0.053;0.029;0.258;0.458	T	0.58451	-0.7634	10	0.87932	D	0	-7.0799	15.5901	0.76521	0.0:1.0:0.0:0.0	.	123;117;166;146;166;160;169;180;189	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	L	123;166;146;180;169;189;160	ENSP00000358943:S123L;ENSP00000343547:S166L;ENSP00000343554:S146L;ENSP00000344647:S180L;ENSP00000340006:S169L;ENSP00000217121:S189L;ENSP00000351350:S160L	ENSP00000217121:S189L	S	+	2	0	TPD52L2	61991007	1.000000	0.71417	0.949000	0.38748	0.962000	0.63368	6.656000	0.74396	2.459000	0.83118	0.563000	0.77884	TCG		PASS	0.483	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			5	22	5	22	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10908843	10908843	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:10908843G>A	ENST00000361285.4	-	23	1831	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.S483F|TPTE_ENST00000342420.5_Missense_Mutation_p.S463F	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	501	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.S501F(1)|p.S483F(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)		TTCAATAAAAGATGTGTGCAA	0.299																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1501-1503)TCT>TTT		transmembrane phosphatase with tensin homology							133.0	125.0	128.0					21																	10908843		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908843G>A	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.1502C>T	21.37:g.10908843G>A	ENSP00000355208:p.Ser501Phe					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S483F|TPTE_uc002yir.1_Missense_Mutation_p.S463F|TPTE_uc010gkv.1_Missense_Mutation_p.S363F	p.S501F	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)	23	1870	-			501			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1502C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.153	0.787707	0.16258	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.18	1.22	0.21188	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.265310	0.38272	U	0.001760	D	0.86577	0.5966	L	0.46885	1.475	0.45580	D	0.998523	P;D;B	0.76494	0.767;0.999;0.041	P;D;B	0.76071	0.729;0.987;0.137	T	0.81982	-0.0683	10	0.30078	T	0.28	-8.3975	8.4803	0.33038	0.0:0.2436:0.7564:0.0	.	463;483;501	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	F	483;501;463	ENSP00000298232:S483F;ENSP00000355208:S501F;ENSP00000344441:S463F	ENSP00000298232:S483F	S	-	2	0	TPTE	9930714	1.000000	0.71417	0.007000	0.13788	0.019000	0.09904	3.513000	0.53414	0.427000	0.26145	0.184000	0.17185	TCT		PASS	0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			8	47	8	47	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	G	A	rs147105244		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:10914364G>A	ENST00000361285.4	-	21	1684	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000342420.5_Splice_Site_p.S414L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.S434L(1)|p.S452L(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)		TTCTCTTACCGAACATTTTCC	0.323																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1354-1356)TCG>TTG		transmembrane phosphatase with tensin homology							69.0	61.0	64.0					21																	10914364		2203	4297	6500	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914364G>A	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.1356+1C>T	21.37:g.10914364G>A						TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S434L|TPTE_uc002yir.1_Missense_Mutation_p.S414L|TPTE_uc010gkv.1_Missense_Mutation_p.S314L	p.S452L	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)	21	1723	-			452			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1355C>T	CCDS13560.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	TPTE	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG		PASS	0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	6	57	6	57	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10920086	10920086	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:10920086G>T	ENST00000361285.4	-	19	1497	c.1168C>A	c.(1168-1170)Cag>Aag	p.Q390K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.Q372K|TPTE_ENST00000342420.5_Missense_Mutation_p.Q352K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	390	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.Q390K(1)|p.Q372K(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)		AAACTTACCTGAGAAGGAGTT	0.378																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1168-1170)CAG>AAG		transmembrane phosphatase with tensin homology							70.0	70.0	70.0					21																	10920086		2202	4300	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920086G>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.1168C>A	21.37:g.10920086G>T	ENSP00000355208:p.Gln390Lys					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Q372K|TPTE_uc002yir.1_Missense_Mutation_p.Q352K|TPTE_uc010gkv.1_Missense_Mutation_p.Q252K	p.Q390K	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)	19	1536	-			390			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1168C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	12.26	1.885014	0.33255	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99488	-6.0;-6.0;-6.0	2.32	2.32	0.28847	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	H	0.97962	4.115	0.46798	D	0.999209	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.996;0.999	D	0.98186	1.0460	10	0.87932	D	0	-18.4997	8.1818	0.31315	0.0:0.0:1.0:0.0	.	352;372;390	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	372;390;352	ENSP00000298232:Q372K;ENSP00000355208:Q390K;ENSP00000344441:Q352K	ENSP00000298232:Q372K	Q	-	1	0	TPTE	9941957	1.000000	0.71417	0.997000	0.53966	0.311000	0.27955	5.387000	0.66243	1.313000	0.45069	0.184000	0.17185	CAG		PASS	0.378	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			11	61	11	61	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10941939	10941939	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:10941939C>T	ENST00000361285.4	-	14	1093	c.764G>A	c.(763-765)gGa>gAa	p.G255E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.G237E|TPTE_ENST00000342420.5_Missense_Mutation_p.G217E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	255	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.G255E(1)|p.G237E(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)		AGACTGCCTTCCAGAAGATGG	0.289																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(763-765)GGA>GAA		transmembrane phosphatase with tensin homology							214.0	207.0	210.0					21																	10941939		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.chr21:10941939C>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.764G>A	21.37:g.10941939C>T	ENSP00000355208:p.Gly255Glu					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G237E|TPTE_uc002yir.1_Missense_Mutation_p.G217E|TPTE_uc010gkv.1_Missense_Mutation_p.G117E	p.G255E	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)	14	1132	-			255			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.764G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.50	1.656143	0.29425	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98531	-4.98;-4.98;-4.98	1.8	1.8	0.24995	Phosphatase tensin type (1);	0.056856	0.64402	U	0.000001	D	0.98748	0.9579	M	0.89353	3.025	0.58432	D	0.999996	D;D;P	0.89917	1.0;1.0;0.944	D;D;P	0.83275	0.996;0.996;0.558	D	0.98501	1.0614	10	0.72032	D	0.01	-13.3457	9.6369	0.39814	0.0:1.0:0.0:0.0	.	217;237;255	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	237;255;217	ENSP00000298232:G237E;ENSP00000355208:G255E;ENSP00000344441:G217E	ENSP00000298232:G237E	G	-	2	0	TPTE	9963810	1.000000	0.71417	0.848000	0.33437	0.099000	0.18886	5.759000	0.68785	1.318000	0.45170	0.194000	0.17425	GGA		PASS	0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			14	182	14	182	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15538721	15538721	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:15538721C>T	ENST00000536861.1	-	5	694	c.695G>A	c.(694-696)gGa>gAa	p.G232E	LIPI_ENST00000344577.2_Missense_Mutation_p.G253E			Q6XZB0	LIPI_HUMAN	lipase, member I	232					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.G253E(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGTTTATTTCCTCCATTTGG	0.343																																						uc002yjm.2																			2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(2)	2						c.(757-759)GGA>GAA		lipase, member I							130.0	127.0	128.0					21																	15538721		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15538721C>T	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.695G>A	21.37:g.15538721C>T	ENSP00000440381:p.Gly232Glu					LIPI_uc010gkw.1_Intron	p.G253E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	5	768	-			232					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.758G>A		.	.	.	.	.	.	.	.	.	.	C	19.06	3.753898	0.69648	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.92858	-3.12;-3.12	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97306	0.9119	H	0.95437	3.67	0.47245	D	0.999367	D	0.89917	1.0	D	0.97110	1.0	D	0.98190	1.0462	10	0.87932	D	0	.	16.4355	0.83873	0.0:1.0:0.0:0.0	.	253	Q6XZB0-2	.	E	253;232	ENSP00000343331:G253E;ENSP00000440381:G232E	ENSP00000343331:G253E	G	-	2	0	LIPI	14460592	0.999000	0.42202	0.971000	0.41717	0.688000	0.40055	5.203000	0.65174	2.686000	0.91538	0.585000	0.79938	GGA		PASS	0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		18	47	18	47	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16337376	16337376	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:16337376G>A	ENST00000400202.1	-	3	3850	c.3138C>T	c.(3136-3138)atC>atT	p.I1046I	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Silent_p.I1046I|NRIP1_ENST00000318948.4_Silent_p.I1046I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1046	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.I1046I(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CCGCATCAGTGATAACCCACT	0.443																																						uc002yjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3136-3138)ATC>ATT		nuclear receptor interacting protein 1							105.0	101.0	102.0					21																	16337376		2203	4299	6502	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337376G>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3138C>T	21.37:g.16337376G>A							p.I1046I	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3736	-			1046					Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.3138C>T	CCDS13568.1																																																																																				PASS	0.443	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		9	34	9	34	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17163870	17163870	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:17163870C>T	ENST00000285679.6	+	5	811	c.442C>T	c.(442-444)Cct>Tct	p.P148S	USP25_ENST00000285681.2_Missense_Mutation_p.P148S|USP25_ENST00000351097.5_Missense_Mutation_p.P148S|USP25_ENST00000400183.2_Missense_Mutation_p.P148S|USP25_ENST00000547201.1_3'UTR	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	148					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.P148S(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGGACACCTACAGAAGT	0.388																																						uc002yjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(442-444)CCT>TCT		ubiquitin specific peptidase 25							144.0	144.0	144.0					21																	17163870		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17163870C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.442C>T	21.37:g.17163870C>T	ENSP00000285679:p.Pro148Ser					USP25_uc011aby.1_Missense_Mutation_p.P148S|USP25_uc002yjz.1_Missense_Mutation_p.P148S|USP25_uc010gla.1_Missense_Mutation_p.P148S	p.P148S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	5	659	+			148					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.442C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526954	0.64860	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.30714	1.94;1.93;1.52;1.94	5.16	5.16	0.70880	.	0.047317	0.85682	D	0.000000	T	0.18002	0.0432	N	0.08118	0	0.40242	D	0.977972	B;B;B;B	0.23316	0.004;0.083;0.013;0.0	B;B;B;B	0.18871	0.012;0.023;0.016;0.0	T	0.09015	-1.0694	10	0.15952	T	0.53	.	18.6404	0.91393	0.0:1.0:0.0:0.0	.	148;148;148;148	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	S	148	ENSP00000285681:P148S;ENSP00000285679:P148S;ENSP00000299574:P148S;ENSP00000383044:P148S	ENSP00000285679:P148S	P	+	1	0	USP25	16085741	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.433000	0.80362	2.410000	0.81850	0.585000	0.79938	CCT		PASS	0.388	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			25	57	25	57	---	---	---	---
CHODL	140578	broad.mit.edu	37	21	19629007	19629007	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:19629007G>T	ENST00000299295.2	+	2	652	c.261G>T	c.(259-261)ctG>ctT	p.L87L	CHODL_ENST00000543733.1_Silent_p.L68L|CHODL_ENST00000338326.3_Silent_p.L46L|CHODL_ENST00000400127.1_Silent_p.L46L|CHODL_ENST00000400128.1_Silent_p.L46L|CHODL_ENST00000400131.1_Silent_p.L46L|CHODL_ENST00000400135.1_Silent_p.L46L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	87	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L87L(1)|p.L46L(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TGCAAAACCTGACAAAACCCG	0.507																																						uc002ykv.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(259-261)CTG>CTT		chondrolectin precursor							102.0	110.0	108.0					21																	19629007		2203	4300	6503	SO:0001819	synonymous_variant	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19629007G>T	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.261G>T	21.37:g.19629007G>T						CHODL_uc002ykr.2_Silent_p.L46L|CHODL_uc002yks.2_Silent_p.L46L|CHODL_uc002ykt.2_Silent_p.L46L|CHODL_uc002yku.2_Silent_p.L46L	p.L87L	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	652	+		all_epithelial(11;0.21)	87			Extracellular (Potential).|C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	ENST00000299295.2	37	c.261G>T	CCDS13570.1																																																																																				PASS	0.507	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		26	62	26	62	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19775824	19775824	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:19775824G>A	ENST00000284885.3	-	1	149	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	39						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.S39F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTCAGGCAGGATACTGCAAT	0.448																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(115-117)TCC>TTC		enterokinase precursor							148.0	134.0	139.0					21																	19775824		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19775824G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.116C>T	21.37:g.19775824G>A	ENSP00000284885:p.Ser39Phe						p.S39F	NM_002772	NP_002763	P98073	ENTK_HUMAN			1	147	-			39			Helical; Signal-anchor for type II membrane protein; (Potential).		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.116C>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408912	0.62399	.	.	ENSG00000154646	ENST00000284885	D	0.87029	-2.2	5.16	4.26	0.50523	.	0.224672	0.38605	N	0.001639	D	0.90324	0.6973	M	0.66939	2.045	0.31386	N	0.678357	D	0.64830	0.994	P	0.59703	0.862	D	0.89672	0.3884	9	.	.	.	.	11.4687	0.50254	0.0:0.1808:0.8192:0.0	.	39	P98073	ENTK_HUMAN	F	39	ENSP00000284885:S39F	.	S	-	2	0	TMPRSS15	18697695	0.996000	0.38824	0.988000	0.46212	0.623000	0.37688	2.542000	0.45744	1.378000	0.46305	0.563000	0.77884	TCC		PASS	0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		16	38	16	38	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22658606	22658606	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:22658606G>A	ENST00000400546.1	+	4	604	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Missense_Mutation_p.E144K|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	119	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E119K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACTTTCAGAGAAGTGGTATC	0.378																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(355-357)GAA>AAA		neural cell adhesion molecule 2 precursor							93.0	85.0	87.0					21																	22658606		1905	4133	6038	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658606G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.355G>A	21.37:g.22658606G>A	ENSP00000383392:p.Glu119Lys					NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.E144K	p.E119K	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	604	+		Lung NSC(9;0.195)	119			Ig-like C2-type 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.355G>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650949	0.67472	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.66099	-0.19;-0.19	5.49	5.49	0.81192	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.044035	0.85682	D	0.000000	T	0.52025	0.1709	N	0.20807	0.61	0.44890	D	0.997902	P;P	0.42871	0.792;0.671	B;B	0.40782	0.34;0.13	T	0.58601	-0.7608	10	0.59425	D	0.04	-26.0803	17.9355	0.89011	0.0:0.0:1.0:0.0	.	144;119	B7Z841;O15394	.;NCAM2_HUMAN	K	119;144	ENSP00000383392:E119K;ENSP00000441887:E144K	ENSP00000383392:E119K	E	+	1	0	NCAM2	21580477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.976000	0.63785	2.577000	0.86979	0.561000	0.74099	GAA		PASS	0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		7	9	7	9	---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802915	31802915	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:31802915G>A	ENST00000334068.2	+	1	344	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	108						intermediate filament (GO:0005882)		p.G108R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GCTGGGAAATGGATCCAGTGG	0.532																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GGA>AGA		keratin associated protein 13-4							100.0	82.0	88.0					21																	31802915		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802915G>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.322G>A	21.37:g.31802915G>A	ENSP00000334834:p.Gly108Arg						p.G108R	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	322	+			108					A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.322G>A	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	12.01	1.809394	0.31961	.	.	ENSG00000186971	ENST00000334068	T	0.03663	3.85	4.85	-0.241	0.13043	.	0.317985	0.22228	N	0.062857	T	0.05273	0.0140	L	0.59436	1.845	0.09310	N	1	P	0.39157	0.662	B	0.42112	0.376	T	0.29243	-1.0018	10	0.33940	T	0.23	.	8.4762	0.33014	0.4184:0.0:0.5816:0.0	.	108	Q3LI77	KR134_HUMAN	R	108	ENSP00000334834:G108R	ENSP00000334834:G108R	G	+	1	0	KRTAP13-4	30724786	0.012000	0.17670	0.003000	0.11579	0.043000	0.13939	0.136000	0.15974	-0.168000	0.10853	0.650000	0.86243	GGA		PASS	0.532	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			8	15	8	15	---	---	---	---
KRTAP19-3	337970	broad.mit.edu	37	21	31864251	31864251	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:31864251C>T	ENST00000334063.4	-	1	24	c.25G>A	c.(25-27)Gga>Aga	p.G9R		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	9						intermediate filament (GO:0005882)		p.G9R(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCCAGGCCTCCATAGTAGCTG	0.562																																						uc002yog.1																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GGA>AGA		keratin associated protein 19-3							144.0	137.0	139.0					21																	31864251		2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864251C>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.25G>A	21.37:g.31864251C>T	ENSP00000386376:p.Gly9Arg						p.G9R	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			1	25	-			9						Missense_Mutation	SNP	ENST00000334063.4	37	c.25G>A	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	3.930	-0.016288	0.07681	.	.	ENSG00000244025	ENST00000334063	T	0.13901	2.55	5.49	-2.24	0.06909	.	0.000000	0.38548	U	0.001649	T	0.08846	0.0219	.	.	.	0.09310	N	1	B	0.18610	0.029	B	0.19391	0.025	T	0.17258	-1.0375	9	0.87932	D	0	.	5.4216	0.16403	0.0:0.3736:0.2499:0.3765	.	9	Q7Z4W3	KR193_HUMAN	R	9	ENSP00000386376:G9R	ENSP00000386376:G9R	G	-	1	0	KRTAP19-3	30786122	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.536000	0.06135	-0.687000	0.05162	-0.119000	0.15052	GGA		PASS	0.562	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			22	60	22	60	---	---	---	---
KRTAP6-3	337968	broad.mit.edu	37	21	31964882	31964882	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:31964882G>A	ENST00000391624.1	+	1	124	c.97G>A	c.(97-99)Ggg>Agg	p.G33R	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	33						intermediate filament (GO:0005882)		p.G33R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ctgtggctatgggtgctgtgg	0.602																																						uc002yom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GGG>AGG		keratin associated protein 6-3							91.0	102.0	98.0					21																	31964882		2203	4300	6503	SO:0001583	missense	337968							g.chr21:31964882G>A	AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.97G>A	21.37:g.31964882G>A	ENSP00000375482:p.Gly33Arg						p.G40R	NM_181605	NP_853636					1	124	+								A4IF26	Missense_Mutation	SNP	ENST00000391624.1	37	c.118G>A		.	.	.	.	.	.	.	.	.	.	-	7.430	0.638515	0.14386	.	.	ENSG00000212938	ENST00000391624	T	0.36157	1.27	0.801	0.801	0.18679	.	.	.	.	.	T	0.37812	0.1017	N	0.22421	0.69	0.24569	N	0.993939	D	0.71674	0.998	D	0.66602	0.945	T	0.14896	-1.0456	9	0.87932	D	0	.	5.2745	0.15641	0.0:0.0:1.0:0.0	.	33	Q3LI67	KRA63_HUMAN	R	33	ENSP00000375482:G33R	ENSP00000375482:G33R	G	+	1	0	KRTAP6-3	30886753	0.121000	0.22262	0.837000	0.33122	0.677000	0.39632	-0.020000	0.12525	0.811000	0.34303	0.366000	0.22137	GGG		PASS	0.602	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128243.2	NM_181605		17	21	17	21	---	---	---	---
KRTAP20-2	337976	broad.mit.edu	37	21	32007668	32007668	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:32007668G>A	ENST00000330798.2	+	1	114	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	29						intermediate filament (GO:0005882)		p.G29D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGTGGTTATGGCCATGGCTAT	0.552																																						uc011adg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(85-87)GGC>GAC		keratin associated protein 20-2							205.0	161.0	176.0					21																	32007668		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007668G>A	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.86G>A	21.37:g.32007668G>A	ENSP00000330746:p.Gly29Asp						p.G29D	NM_181616	NP_853647	Q3LI61	KR202_HUMAN			1	86	+			29						Missense_Mutation	SNP	ENST00000330798.2	37	c.86G>A	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302369	0.23736	.	.	ENSG00000184032	ENST00000330798	T	0.43294	0.95	4.37	4.37	0.52481	.	0.368251	0.18783	U	0.131286	T	0.55768	0.1941	.	.	.	0.09310	N	1	D	0.58620	0.983	P	0.58266	0.836	T	0.49707	-0.8911	9	0.87932	D	0	.	12.6224	0.56610	0.0:0.0:1.0:0.0	.	29	Q3LI61	KR202_HUMAN	D	29	ENSP00000330746:G29D	ENSP00000330746:G29D	G	+	2	0	KRTAP20-2	30929539	0.065000	0.20965	0.006000	0.13384	0.004000	0.04260	1.637000	0.37155	2.452000	0.82932	0.460000	0.39030	GGC		PASS	0.552	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			5	24	5	24	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32638620	32638620	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:32638620G>A	ENST00000286827.3	-	5	1140	c.669C>T	c.(667-669)ctC>ctT	p.L223L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.L223L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	223					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L223L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GACAGGTGCTGAGCTGCCGCG	0.552																																						uc002yow.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(667-669)CTC>CTT		T-cell lymphoma invasion and metastasis 1							62.0	66.0	65.0					21																	32638620		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638620G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.669C>T	21.37:g.32638620G>A						TIAM1_uc011adk.1_Silent_p.L223L|TIAM1_uc011adl.1_Silent_p.L223L|TIAM1_uc002yox.1_Intron	p.L223L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	1141	-			223					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.669C>T	CCDS13609.1																																																																																				PASS	0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		18	26	18	26	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33074193	33074193	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:33074193G>A	ENST00000286835.7	-	6	878	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	SCAF4_ENST00000434667.3_Missense_Mutation_p.P151S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P166S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	166						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P166S(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTTGTGTGGGAGGTTCAGAA	0.453																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CCC>TCC		splicing factor, arginine/serine-rich 15 isoform							81.0	80.0	80.0					21																	33074193		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074193G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.496C>T	21.37:g.33074193G>A	ENSP00000286835:p.Pro166Ser					SFRS15_uc002ype.2_Missense_Mutation_p.P166S|SFRS15_uc010glu.2_Missense_Mutation_p.P151S|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Missense_Mutation_p.P166S	p.P166S	NM_020706	NP_065757	O95104	SFR15_HUMAN			6	922	-			166					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.496C>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	G	9.199	1.027999	0.19512	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48836	0.8;0.9;0.92	6.06	3.22	0.36961	.	.	.	.	.	T	0.46092	0.1375	L	0.35723	1.085	0.34578	D	0.714209	P;P;P;P	0.51449	0.909;0.909;0.945;0.909	P;P;P;P	0.56648	0.641;0.641;0.803;0.641	T	0.51568	-0.8689	9	0.22109	T	0.4	-0.5808	6.2423	0.20797	0.1218:0.108:0.6584:0.1118	.	151;166;166;166	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	151;166;166	ENSP00000402377:P151S;ENSP00000286835:P166S;ENSP00000382703:P166S	ENSP00000286835:P166S	P	-	1	0	SCAF4	31996064	0.918000	0.31147	0.175000	0.22980	0.322000	0.28314	1.483000	0.35497	0.406000	0.25560	0.650000	0.86243	CCC		PASS	0.453	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		9	50	9	50	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33371063	33371063	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:33371063G>A	ENST00000270112.2	+	11	2071	c.1711G>A	c.(1711-1713)Gta>Ata	p.V571I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	571					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V571I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CGACGACCACGTAGAAGTGCT	0.612																																						uc002yph.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(1711-1713)GTA>ATA		hormonally upregulated Neu-associated kinase							84.0	62.0	70.0					21																	33371063		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371063G>A	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.1711G>A	21.37:g.33371063G>A	ENSP00000270112:p.Val571Ile						p.V571I	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	2071	+			571						Missense_Mutation	SNP	ENST00000270112.2	37	c.1711G>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.065944	0.00382	.	.	ENSG00000142149	ENST00000270112	T	0.63580	-0.05	4.39	-1.15	0.09709	.	0.670870	0.14390	N	0.322541	T	0.22085	0.0532	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23476	-1.0187	10	0.02654	T	1	2.0008	3.228	0.06739	0.6349:0.1124:0.1442:0.1086	.	571	P57058	HUNK_HUMAN	I	571	ENSP00000270112:V571I	ENSP00000270112:V571I	V	+	1	0	HUNK	32292934	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.235000	0.09016	-0.771000	0.04608	-1.859000	0.00561	GTA		PASS	0.612	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		14	23	14	23	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34053869	34053869	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:34053869G>A	ENST00000322229.7	-	10	1289	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SYNJ1_ENST00000382499.2_Silent_p.S469S|SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000357345.3_Silent_p.S430S|SYNJ1_ENST00000382491.3_Silent_p.S430S			O43426	SYNJ1_HUMAN	synaptojanin 1	430	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S430S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACCATTCACGGACCACATTG	0.398																																						uc002yqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(1405-1407)TCC>TCT		synaptojanin 1 isoform a							148.0	143.0	145.0					21																	34053869		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34053869G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1290C>T	21.37:g.34053869G>A						SYNJ1_uc011ads.1_Silent_p.S430S|SYNJ1_uc002yqf.2_Silent_p.S430S|SYNJ1_uc002yqg.2_Silent_p.S430S|SYNJ1_uc002yqi.2_Silent_p.S469S	p.S469S	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			11	1407	-			430			SAC.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1407C>T	CCDS54484.1																																																																																				PASS	0.398	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				18	59	18	59	---	---	---	---
SON	6651	broad.mit.edu	37	21	34924260	34924260	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:34924260C>T	ENST00000356577.4	+	3	3198	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S908L|SON_ENST00000290239.6_Missense_Mutation_p.S908L|SON_ENST00000381679.4_Missense_Mutation_p.S908L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	908					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S908L(4)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGTTGGGTTCAAAATCTCCT	0.473																																						uc002yse.1																			4	Substitution - Missense(4)		lung(4)	ovary(4)|skin(2)	6						c.(2722-2724)TCA>TTA		SON DNA-binding protein isoform F							63.0	60.0	61.0					21																	34924260		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924260C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2723C>T	21.37:g.34924260C>T	ENSP00000348984:p.Ser908Leu					SON_uc002ysb.1_Missense_Mutation_p.S908L|SON_uc002ysc.2_Missense_Mutation_p.S908L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.S908L	NM_138927	NP_620305	P18583	SON_HUMAN			3	2772	+			908					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2723C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248466	0.59103	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.13420	2.78;2.78;2.77;2.59	6.01	6.01	0.97437	.	0.155853	0.30519	N	0.009456	T	0.20210	0.0486	L	0.44542	1.39	0.33056	D	0.533364	D;D;B	0.63880	0.988;0.993;0.216	P;P;B	0.53102	0.714;0.718;0.254	T	0.03587	-1.1022	10	0.10902	T	0.67	.	16.0817	0.81010	0.0:1.0:0.0:0.0	.	908;908;908	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	L	908	ENSP00000348984:S908L;ENSP00000290239:S908L;ENSP00000300278:S908L;ENSP00000371095:S908L	ENSP00000290239:S908L	S	+	2	0	SON	33846130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.114000	0.50383	2.873000	0.98535	0.644000	0.83932	TCA		PASS	0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		8	24	8	24	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35208892	35208892	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:35208892C>T	ENST00000381318.3	+	29	3905	c.3617C>T	c.(3616-3618)tCc>tTc	p.S1206F	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.S1201F|ITSN1_ENST00000399355.2_Missense_Mutation_p.S1135F|ITSN1_ENST00000381285.4_Missense_Mutation_p.S1206F|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399352.1_Missense_Mutation_p.S1201F|ITSN1_ENST00000399353.1_Missense_Mutation_p.S1164F|ITSN1_ENST00000399349.1_Missense_Mutation_p.S1130F|ITSN1_ENST00000399367.3_Missense_Mutation_p.S1201F|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.S1206F	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1206	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1206F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCTTCCCATCCAATTATGTG	0.532																																						uc002yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3616-3618)TCC>TTC		intersectin 1 isoform ITSN-l							114.0	103.0	107.0					21																	35208892		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208892C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3617C>T	21.37:g.35208892C>T	ENSP00000370719:p.Ser1206Phe					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.S1130F|ITSN1_uc010gmg.2_Missense_Mutation_p.S1093F|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.S1206F|ITSN1_uc010gmi.2_Missense_Mutation_p.S1169F|ITSN1_uc010gmj.2_Missense_Mutation_p.S1085F|ITSN1_uc002ysy.2_Missense_Mutation_p.S1201F|ITSN1_uc002ysx.2_Missense_Mutation_p.S1164F|ITSN1_uc002ytb.1_Missense_Mutation_p.S1201F|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.S1098F|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.S1201F|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.S1069F|ITSN1_uc002yti.1_RNA	p.S1206F	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			29	3885	+			1206			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3617C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012079	0.54468	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	4.37	4.37	0.52481	Src homology-3 domain (5);	0.123456	0.53938	D	0.000045	T	0.77485	0.4137	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.995;1.0;0.994;1.0;0.998;1.0;1.0;0.997;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.979;1.0;0.974;1.0;0.997;1.0;1.0;0.984;1.0	D	0.85555	0.1224	10	0.87932	D	0	.	16.9317	0.86191	0.0:1.0:0.0:0.0	.	1098;1169;1093;1201;1135;1201;1206;1130;1164	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	F	1164;1206;1206;1206;1135;1201;1201;1135;1130;1201	ENSP00000382290:S1164F;ENSP00000370719:S1206F;ENSP00000370691:S1206F;ENSP00000370685:S1206F;ENSP00000382301:S1201F;ENSP00000382289:S1201F;ENSP00000382292:S1135F;ENSP00000382286:S1130F;ENSP00000387377:S1201F	ENSP00000370685:S1206F	S	+	2	0	ITSN1	34130762	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.875000	0.63072	1.969000	0.57287	0.637000	0.83480	TCC		PASS	0.532	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		28	52	28	52	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468224	35468225	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:35468224_35468225CC>TT	ENST00000381151.3	+	2	1239_1240	c.727_728CC>TT	c.(727-729)CCt>TTt	p.P243F	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.P243F|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	243					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)	p.P243F(1)|p.P243L(1)|p.P243S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TAATGTCTCCCCTAAGAAAGAA	0.45																																						uc002yto.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(727-729)CCT>TCT|c.(727-729)CCT>CTT		solute carrier family 5 (inositol transporters),																																				SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468224C>T|g.chr21:35468225C>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	Exception_encountered	21.37:g.35468224_35468225delinsTT	ENSP00000370543:p.Pro243Phe					MRPS6_uc002ytp.2_Intron	p.P243S|p.P243L	NM_006933	NP_008864	P53794	SC5A3_HUMAN			2	1239|1240	+			243			Cytoplasmic (Potential).		O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.727C>T|c.728C>T	CCDS33549.1																																																																																				PASS	0.450	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			17	67	17	67	---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37788602	37788602	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:37788602C>T	ENST00000314103.5	+	14	1769	c.1618C>T	c.(1618-1620)Cca>Tca	p.P540S		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	540					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.P540S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGGCAGTCCCCCAGAGCTAAA	0.527																																						uc002yvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1618-1620)CCA>TCA		chromatin assembly factor 1 subunit B							54.0	55.0	55.0					21																	37788602		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37788602C>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1618C>T	21.37:g.37788602C>T	ENSP00000315700:p.Pro540Ser						p.P540S	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			14	1756	+			540					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1618C>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954644	0.53293	.	.	ENSG00000159259	ENST00000314103	T	0.59364	0.27	5.29	5.29	0.74685	.	0.215470	0.48767	D	0.000161	T	0.43233	0.1238	L	0.32530	0.975	0.50171	D	0.999852	P	0.39665	0.682	B	0.36534	0.227	T	0.33854	-0.9852	10	0.09338	T	0.73	-3.2604	14.4428	0.67330	0.0:1.0:0.0:0.0	.	540	Q13112	CAF1B_HUMAN	S	540	ENSP00000315700:P540S	ENSP00000315700:P540S	P	+	1	0	CHAF1B	36710472	0.023000	0.18921	0.014000	0.15608	0.106000	0.19336	2.538000	0.45710	2.471000	0.83476	0.563000	0.77884	CCA		PASS	0.527	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		8	15	8	15	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38858793	38858793	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:38858793G>A	ENST00000398960.2	+	5	616	c.541G>A	c.(541-543)Gag>Aag	p.E181K	DYRK1A_ENST00000455387.2_5'Flank|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E172K|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E181K|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E181K|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E181K|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E181K	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E181K(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGATCGTGTGGAGCAAGAATG	0.313																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(541-543)GAG>AAG		dual-specificity tyrosine-(Y)-phosphorylation							85.0	86.0	85.0					21																	38858793		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38858793G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.541G>A	21.37:g.38858793G>A	ENSP00000381932:p.Glu181Lys					DYRK1A_uc002ywh.1_Missense_Mutation_p.E143K|DYRK1A_uc002ywi.2_Missense_Mutation_p.E181K|DYRK1A_uc002ywj.2_Missense_Mutation_p.E172K|DYRK1A_uc002ywl.2_Missense_Mutation_p.E181K|DYRK1A_uc002ywm.2_Missense_Mutation_p.E181K|DYRK1A_uc011aei.1_5'Flank	p.E181K	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			5	616	+			181			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.541G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425794	0.62733	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	N	0.05441	-0.05	0.80722	D	1	B;B;P;P;B	0.46142	0.011;0.011;0.873;0.846;0.011	B;B;B;B;B	0.43123	0.032;0.032;0.409;0.286;0.032	T	0.10497	-1.0627	9	.	.	.	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	181;181;181;172;181	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	K	181;172;181;181;181;181	ENSP00000342690:E181K;ENSP00000340373:E172K;ENSP00000319032:E181K;ENSP00000416089:E181K;ENSP00000381932:E181K;ENSP00000381929:E181K	.	E	+	1	0	DYRK1A	37780663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.751000	0.94390	0.591000	0.81541	GAG		PASS	0.313	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		16	35	16	35	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	39086760	39086760	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:39086760C>T	ENST00000609713.1	-	3	1289	c.700G>A	c.(700-702)Gag>Aag	p.E234K	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.E234K	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	234					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.E234K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATGGAAGCCTCCACAATGTGG	0.527																																					Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(700-702)GAG>AAG		potassium inwardly-rectifying channel J6	Halothane(DB01159)						82.0	82.0	82.0					21																	39086760		1921	4144	6065	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39086760C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.700G>A	21.37:g.39086760C>T	ENSP00000477437:p.Glu234Lys					KCNJ6_uc002ywo.2_Missense_Mutation_p.E234K	p.E234K	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	753	-			234			Cytoplasmic (By similarity).		Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.700G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678070	0.88542	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.92911	-3.13;-3.13	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.87682	2.9	0.58432	D	0.999997	D	0.62365	0.991	D	0.65874	0.939	D	0.96246	0.9179	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	234	P48051	IRK6_HUMAN	K	234	ENSP00000383330:E234K;ENSP00000288309:E234K	ENSP00000288309:E234K	E	-	1	0	KCNJ6	38008630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.527	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		14	35	14	35	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41450784	41450784	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:41450784C>T	ENST00000400454.1	-	26	5018	c.4541G>A	c.(4540-4542)aGg>aAg	p.R1514K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1514	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1514K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCAAAGGGCCTGTACTCTAG	0.562																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4540-4542)AGG>AAG		Down syndrome cell adhesion molecule isoform							48.0	53.0	52.0					21																	41450784		2077	4215	6292	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41450784C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4541G>A	21.37:g.41450784C>T	ENSP00000383303:p.Arg1514Lys					DSCAM_uc002yyr.1_RNA	p.R1514K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			26	4993	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1514			Extracellular (Potential).|Fibronectin type-III 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4541G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673983	0.47781	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57107	0.42;0.42	4.33	4.33	0.51752	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053759	0.85682	D	0.000000	T	0.48447	0.1500	L	0.50847	1.595	0.40346	D	0.979082	B	0.10296	0.003	B	0.13407	0.009	T	0.45411	-0.9263	10	0.27082	T	0.32	.	17.3858	0.87415	0.0:1.0:0.0:0.0	.	1514	O60469	DSCAM_HUMAN	K	1514;1266	ENSP00000383303:R1514K;ENSP00000385342:R1266K	ENSP00000383303:R1514K	R	-	2	0	DSCAM	40372654	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.806000	0.69150	2.397000	0.81536	0.563000	0.77884	AGG		PASS	0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	17	9	17	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41710112	41710113	+	Missense_Mutation	DNP	CC	CC	TT	rs370012852		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:41710112_41710113CC>TT	ENST00000400454.1	-	8	2175_2176	c.1698_1699GG>AA	c.(1696-1701)aaGGaa>aaAAaa	p.E567K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	567	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E567K(2)|p.K566K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCCACTTCCTTTTGCACAT	0.49																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1699-1701)GAA>AAA|c.(1696-1698)AAG>AAA		Down syndrome cell adhesion molecule isoform																																				SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710112C>T|g.chr21:41710113C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1698_1699delinsTT	21.37:g.41710112_41710113delinsTT	ENSP00000383303:p.Glu567Lys					DSCAM_uc002yyr.1_RNA	p.E567K|p.K566K	NM_001389	NP_001380	O60469	DSCAM_HUMAN			8	2151|2150	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	567|566			Extracellular (Potential).|Ig-like C2-type 6.		O60468	Missense_Mutation|Silent	SNP	ENST00000400454.1	37	c.1699G>A|c.1698G>A	CCDS42929.1																																																																																				PASS	0.490	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		19|18	45|47	18	45	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42843869	42843869	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:42843869C>T	ENST00000332149.5	-	10	1073	c.939G>A	c.(937-939)ggG>ggA	p.G313G	TMPRSS2_ENST00000398585.3_Silent_p.G350G|TMPRSS2_ENST00000458356.1_Silent_p.G313G	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	313	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G313G(2)|p.G350G(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTCTCAAAATCCCCGCAAATG	0.428			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	3	Substitution - coding silent(3)		lung(3)	prostate(2523)|central_nervous_system(1)	2524						c.(937-939)GGG>GGA		transmembrane protease, serine 2 isoform 2							116.0	115.0	115.0					21																	42843869		2202	4299	6501	SO:0001819	synonymous_variant	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843869C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.939G>A	21.37:g.42843869C>T						TMPRSS2_uc010gor.2_Silent_p.G350G|TMPRSS2_uc010gos.1_Silent_p.G313G	p.G313G	NM_005656	NP_005647	O15393	TMPS2_HUMAN			10	1073	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	313			Peptidase S1.|Extracellular (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.939G>A	CCDS33564.1																																																																																				PASS	0.428	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			17	33	17	33	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43496237	43496238	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:43496237_43496238GG>AA	ENST00000408910.2	+	2	200_201	c.200_201GG>AA	c.(199-201)tGG>tAA	p.W67*	UMODL1_ENST00000408989.2_Nonsense_Mutation_p.W67*|UMODL1_ENST00000400427.1_5'UTR|UMODL1_ENST00000400424.2_5'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	67	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.W67*(3)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGATCCCCTGGAGGCGGTGCC	0.599																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)|skin(1)	3						c.(199-201)TGG>TAG|c.(199-201)TGG>TGA		uromodulin-like 1 isoform 1 precursor																																				SO:0001587	stop_gained	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43496237G>A|g.chr21:43496238G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	Exception_encountered	21.37:g.43496237_43496238delinsAA	ENSP00000386147:p.Trp67*					UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Nonsense_Mutation_p.W67*|uc002zah.1_RNA	p.W67*	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			2	200|201	+			67			Extracellular (Potential).|EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	c.200G>A|c.201G>A	CCDS42936.1																																																																																				PASS	0.599	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			10	29	10	29	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43547287	43547287	+	Silent	SNP	G	G	T	rs199613251		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:43547287G>T	ENST00000408910.2	+	19	3465	c.3465G>T	c.(3463-3465)acG>acT	p.T1155T	UMODL1_ENST00000408989.2_Silent_p.T1283T|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.T1211T|UMODL1_ENST00000400424.2_Silent_p.T1083T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1155	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.T1083T(1)|p.T1283T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGTCCTGACGGAGTGCTGGG	0.567																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(3463-3465)ACG>ACT		uromodulin-like 1 isoform 1 precursor							76.0	78.0	77.0					21																	43547287		1982	4154	6136	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547287G>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3465G>T	21.37:g.43547287G>T						UMODL1_uc002zad.1_Silent_p.T1083T|UMODL1_uc002zae.1_Silent_p.T1211T|UMODL1_uc002zag.1_Silent_p.T1283T|UMODL1_uc002zal.1_Silent_p.T105T|UMODL1_uc010gpa.1_5'Flank	p.T1155T	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			19	3465	+			1155			Extracellular (Potential).|ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3465G>T	CCDS42936.1																																																																																				PASS	0.567	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			14	38	14	38	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44108093	44108093	+	Silent	SNP	G	G	A	rs377439221		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:44108093G>A	ENST00000291539.6	+	3	267	c.207G>A	c.(205-207)gcG>gcA	p.A69A	PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.E46K|PDE9A_ENST00000335512.4_Silent_p.A69A|PDE9A_ENST00000380328.2_Silent_p.A69A|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398234.3_Silent_p.A28A|PDE9A_ENST00000539837.1_Silent_p.A34A|PDE9A_ENST00000398225.3_Silent_p.A28A|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398229.3_Silent_p.A28A|PDE9A_ENST00000398236.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	69					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.A69A(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CCATGCCCGCGAATTCAGAAC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18677	0.001		0.0	False		,,,				2504	0.0					uc002zbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(205-207)GCG>GCA		phosphodiesterase 9A isoform a							80.0	67.0	72.0					21																	44108093		2203	4300	6503	SO:0001819	synonymous_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44108093G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.207G>A	21.37:g.44108093G>A						PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Silent_p.A69A|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Missense_Mutation_p.E46K|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Silent_p.A28A|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Silent_p.A69A|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_5'UTR|PDE9A_uc002zca.2_Silent_p.A28A|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Silent_p.A28A|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron	p.A69A	NM_002606	NP_002597	O76083	PDE9A_HUMAN			3	270	+			69					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	ENST00000291539.6	37	c.207G>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	g	0.945	-0.708211	0.03230	.	.	ENSG00000160191	ENST00000335440	T	0.69435	-0.4	4.98	-9.96	0.00443	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.39592	D	0.969596	B	0.06786	0.001	B	0.04013	0.001	T	0.29458	-1.0011	8	0.06099	T	0.92	.	12.0337	0.53412	0.1565:0.5858:0.2577:0.0	.	46	O76083-12	.	K	46	ENSP00000335365:E46K	ENSP00000335365:E46K	E	+	1	0	PDE9A	42981162	0.781000	0.28676	0.003000	0.11579	0.094000	0.18550	-0.427000	0.06999	-3.231000	0.00209	-1.261000	0.01458	GAA		PASS	0.582	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			13	34	13	34	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44190846	44190846	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:44190846C>A	ENST00000291539.6	+	18	1684	c.1624C>A	c.(1624-1626)Cca>Aca	p.P542T	PDE9A_ENST00000328862.6_Missense_Mutation_p.P516T|PDE9A_ENST00000398224.3_Missense_Mutation_p.P415T|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.P440T|PDE9A_ENST00000335512.4_Missense_Mutation_p.P482T|PDE9A_ENST00000380328.2_Missense_Mutation_p.P489T|PDE9A_ENST00000398232.3_Missense_Mutation_p.P475T|PDE9A_ENST00000349112.3_Missense_Mutation_p.P414T|PDE9A_ENST00000398234.3_Missense_Mutation_p.P441T|PDE9A_ENST00000539837.1_Missense_Mutation_p.P414T|PDE9A_ENST00000398225.3_Missense_Mutation_p.P501T|PDE9A_ENST00000398227.3_Missense_Mutation_p.P382T|PDE9A_ENST00000398229.3_Missense_Mutation_p.P408T|PDE9A_ENST00000398236.3_Missense_Mutation_p.P456T	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	542	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.P542T(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CATGCTGCAGCCACTTTGGGA	0.517																																						uc002zbm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1624-1626)CCA>ACA		phosphodiesterase 9A isoform a							140.0	113.0	122.0					21																	44190846		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44190846C>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1624C>A	21.37:g.44190846C>A	ENSP00000291539:p.Pro542Thr					PDE9A_uc002zbn.2_Missense_Mutation_p.P415T|PDE9A_uc002zbo.2_Missense_Mutation_p.P489T|PDE9A_uc002zbp.2_Missense_Mutation_p.P335T|PDE9A_uc002zbq.2_Missense_Mutation_p.P440T|PDE9A_uc002zbs.2_Missense_Mutation_p.P335T|PDE9A_uc002zbr.2_Missense_Mutation_p.P335T|PDE9A_uc002zbt.2_Missense_Mutation_p.P414T|PDE9A_uc002zbu.2_Missense_Mutation_p.P408T|PDE9A_uc002zbv.2_Missense_Mutation_p.P382T|PDE9A_uc002zbw.2_Missense_Mutation_p.P325T|PDE9A_uc002zbx.2_Missense_Mutation_p.P482T|PDE9A_uc002zby.2_Missense_Mutation_p.P325T|PDE9A_uc002zbz.2_Missense_Mutation_p.P434T|PDE9A_uc002zca.2_Missense_Mutation_p.P501T|PDE9A_uc002zcb.2_Missense_Mutation_p.P516T|PDE9A_uc002zcc.2_Missense_Mutation_p.P441T|PDE9A_uc002zcd.2_Missense_Mutation_p.P456T|PDE9A_uc002zce.2_Missense_Mutation_p.P475T|PDE9A_uc002zcf.2_Missense_Mutation_p.P335T|PDE9A_uc002zcg.2_Missense_Mutation_p.P335T|PDE9A_uc002zch.2_Missense_Mutation_p.P325T	p.P542T	NM_002606	NP_002597	O76083	PDE9A_HUMAN			18	1687	+			542			Catalytic (By similarity).		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1624C>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857869	0.51376	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.6	4.6	0.57074	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.053789	0.85682	N	0.000000	D	0.85839	0.5790	M	0.86178	2.8	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.69078	0.983;0.997;0.997;0.983;0.995;0.99;0.997;0.981;0.996;0.967;0.99;0.995;0.991;0.967;0.987	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.72982	0.965;0.979;0.979;0.952;0.977;0.954;0.966;0.952;0.979;0.979;0.976;0.977;0.965;0.979;0.966	D	0.83781	0.0225	10	0.11182	T	0.66	.	17.8394	0.88711	0.0:1.0:0.0:0.0	.	475;456;441;516;501;434;482;325;382;408;414;440;489;415;542	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	T	482;414;542;489;475;441;456;516;440;501;408;382;414;415	ENSP00000335242:P482T;ENSP00000441899:P414T;ENSP00000291539:P542T;ENSP00000369685:P489T;ENSP00000381287:P475T;ENSP00000381289:P441T;ENSP00000381291:P456T;ENSP00000328699:P516T;ENSP00000335365:P440T;ENSP00000381281:P501T;ENSP00000381285:P408T;ENSP00000381283:P382T;ENSP00000344730:P414T;ENSP00000381280:P415T	ENSP00000291539:P542T	P	+	1	0	PDE9A	43063915	1.000000	0.71417	0.991000	0.47740	0.021000	0.10359	7.340000	0.79292	2.297000	0.77311	0.551000	0.68910	CCA		PASS	0.517	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			9	17	9	17	---	---	---	---
CBS	875	broad.mit.edu	37	21	44492175	44492175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:44492175C>T	ENST00000398165.3	-	3	388	c.129G>A	c.(127-129)tgG>tgA	p.W43*	CBS_ENST00000544202.1_5'Flank|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Nonsense_Mutation_p.W43*|CBS_ENST00000398168.1_Nonsense_Mutation_p.W43*|CBS_ENST00000398158.1_Nonsense_Mutation_p.W43*|CBS_ENST00000352178.5_Nonsense_Mutation_p.W43*	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	43					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)	p.W43*(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CGGGCCGGATCCACAGGGGCT	0.672																																						uc002zcu.2																			2	Substitution - Nonsense(2)		lung(2)		0	GRCh37	CM062494	CBS	M		c.(127-129)TGG>TGA		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						54.0	58.0	56.0					21																	44492175		2203	4300	6503	SO:0001587	stop_gained	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44492175C>T	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.129G>A	21.37:g.44492175C>T	ENSP00000381231:p.Trp43*					CBS_uc002zct.2_Nonsense_Mutation_p.W43*|CBS_uc002zcw.3_Nonsense_Mutation_p.W43*|CBS_uc002zcv.2_Nonsense_Mutation_p.W43*	p.W43*	NM_000071	NP_000062	P35520	CBS_HUMAN			3	374	-			43					B2R993|D3DSK4|Q99425|Q9BWC5	Nonsense_Mutation	SNP	ENST00000398165.3	37	c.129G>A	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447980	0.98289	.	.	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000441030	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7324	17.4969	0.87720	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000344460:W43X	W	-	3	0	CBS	43365244	1.000000	0.71417	0.989000	0.46669	0.757000	0.42996	6.246000	0.72405	2.646000	0.89796	0.655000	0.94253	TGG		PASS	0.672	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		13	25	13	25	---	---	---	---
PDXK	8566	broad.mit.edu	37	21	45173564	45173564	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:45173564C>T	ENST00000291565.4	+	9	906	c.723C>T	c.(721-723)ctC>ctT	p.L241L	PDXK_ENST00000467908.1_Silent_p.L201L|PDXK_ENST00000468090.1_Silent_p.L213L	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	241					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)	p.L241L(2)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CTGCCATGCTCCTGGCGTGGA	0.617																																						uc002zdm.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(721-723)CTC>CTT		pyridoxal kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						202.0	160.0	174.0					21																	45173564		2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45173564C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.723C>T	21.37:g.45173564C>T						PDXK_uc010gpj.2_Silent_p.L241L|PDXK_uc002zdn.3_Silent_p.L213L|PDXK_uc002zdq.3_Silent_p.L168L	p.L241L	NM_003681	NP_003672	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	9	921	+			241					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.723C>T	CCDS13699.1																																																																																				PASS	0.617	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		17	36	17	36	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45950965	45950965	+	Silent	SNP	G	G	A	rs150521283		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:45950965G>A	ENST00000323084.4	-	4	659	c.594C>T	c.(592-594)ttC>ttT	p.F198F	TSPEAR_ENST00000397916.1_Silent_p.F130F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	198	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.F198F(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGCCGACGAAGAATCGAGCTC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21177	0.0		0.0	False		,,,				2504	0.0					uc002zfe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)TTC>TTT		chromosome 21 open reading frame 29 precursor		G		4,4402	8.1+/-20.4	0,4,2199	80.0	66.0	71.0		594	3.4	1.0	21	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	TSPEAR	NM_144991.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		198/670	45950965	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45950965G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.594C>T	21.37:g.45950965G>A						C21orf29_uc010gpv.1_Silent_p.F130F	p.F198F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			4	660	-			198			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.594C>T	CCDS13712.1																																																																																				PASS	0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		5	17	5	17	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45953714	45953714	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:45953714G>A	ENST00000323084.4	-	3	461	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TSPEAR_ENST00000397916.1_Silent_p.F64F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	132	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.F132F(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGCGAAGGAACAGGAAGT	0.677																																						uc002zfe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)TTC>TTT		chromosome 21 open reading frame 29 precursor							37.0	37.0	37.0					21																	45953714		2200	4297	6497	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953714G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.396C>T	21.37:g.45953714G>A						C21orf29_uc010gpv.1_Silent_p.F64F	p.F132F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			3	462	-			132			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.396C>T	CCDS13712.1																																																																																				PASS	0.677	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		4	11	4	11	---	---	---	---
KRTAP10-12	386685	broad.mit.edu	37	21	46117566	46117566	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:46117566C>T	ENST00000400365.3	+	1	480	c.450C>T	c.(448-450)tcC>tcT	p.S150S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	150	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S150S(1)		large_intestine(1)|lung(8)	9						GTCAACAGTCCTGCTGTGTGC	0.612																																						uc002zfw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)TCC>TCT		keratin associated protein 10-12							171.0	176.0	174.0					21																	46117566		2203	4300	6503	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117566C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.450C>T	21.37:g.46117566C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S150S	NM_198699	NP_941972	P60413	KR10C_HUMAN			1	480	+			150			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.450C>T	CCDS42967.1																																																																																				PASS	0.612	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		71	122	71	122	---	---	---	---
COL6A2	1292	broad.mit.edu	37	21	47546007	47546007	+	Missense_Mutation	SNP	G	G	A	rs199913294	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:47546007G>A	ENST00000300527.4	+	26	2382	c.2278G>A	c.(2278-2280)Ggg>Agg	p.G760R	COL6A2_ENST00000357838.4_Missense_Mutation_p.G760R|COL6A2_ENST00000409416.1_Missense_Mutation_p.G760R|COL6A2_ENST00000310645.5_Missense_Mutation_p.G760R|COL6A2_ENST00000397763.1_Missense_Mutation_p.G760R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	760	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.G760R(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATCGGCATCGGGGACATGTT	0.627													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17684	0.0		0.0	False		,,,				2504	0.0					uc002zia.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(7)|ovary(1)	8						c.(2278-2280)GGG>AGG		alpha 2 type VI collagen isoform 2C2 precursor							165.0	157.0	160.0					21																	47546007		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546007G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2278G>A	21.37:g.47546007G>A	ENSP00000300527:p.Gly760Arg					COL6A2_uc002zhy.1_Missense_Mutation_p.G760R|COL6A2_uc002zhz.1_Missense_Mutation_p.G760R|COL6A2_uc002zib.1_Missense_Mutation_p.G166R|COL6A2_uc002zic.1_5'Flank	p.G760R	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2360	+	Breast(49;0.245)		760			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2278G>A	CCDS13728.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	15.13	2.742268	0.49151	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	3.84	2.95	0.34219	von Willebrand factor, type A (3);	0.053362	0.85682	D	0.000000	D	0.93429	0.7904	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.973;0.953	D	0.92393	0.5923	10	0.54805	T	0.06	-11.1223	11.0343	0.47791	0.0931:0.0:0.9069:0.0	.	760;760;760	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	R	760	ENSP00000300527:G760R;ENSP00000350497:G760R;ENSP00000312529:G760R;ENSP00000387115:G760R;ENSP00000380870:G760R	ENSP00000300527:G760R	G	+	1	0	COL6A2	46370435	1.000000	0.71417	0.514000	0.27761	0.677000	0.39632	9.526000	0.98042	0.604000	0.29930	0.491000	0.48974	GGG		PASS	0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			57	99	57	99	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47663398	47663398	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:47663398G>A	ENST00000397708.1	-	25	5531	c.5277C>T	c.(5275-5277)ccC>ccT	p.P1759P	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.P1759P			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1759	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.P1759P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGGAAGCCGGGGGGGCGTCC	0.532																																						uc002zir.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(5275-5277)CCC>CCT		minichromosome maintenance complex component 3							86.0	94.0	91.0					21																	47663398		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47663398G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5277C>T	21.37:g.47663398G>A						MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.P254P|MCM3AP_uc002zip.1_Silent_p.P500P|MCM3AP_uc002ziq.1_Silent_p.P686P|MCM3APAS_uc002zis.1_Intron	p.P1759P	NM_003906	NP_003897	O60318	MCM3A_HUMAN			24	5313	-	Breast(49;0.112)		1759					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.5277C>T	CCDS13734.1																																																																																				PASS	0.532	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		31	60	31	60	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47769664	47769664	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr21:47769664C>T	ENST00000359568.5	+	8	1381	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	425	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.S425F(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GACCTGCAGTCCGAGCACGGC	0.468																																						uc002zji.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(1273-1275)TCC>TTC		pericentrin							111.0	109.0	110.0					21																	47769664		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769664C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1274C>T	21.37:g.47769664C>T	ENSP00000352572:p.Ser425Phe					PCNT_uc002zjj.2_Missense_Mutation_p.S307F|PCNT_uc010gqk.1_RNA	p.S425F	NM_006031	NP_006022	O95613	PCNT_HUMAN			8	1381	+	Breast(49;0.112)		425			Glu-rich.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1274C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721574	0.30503	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27557	1.66	3.98	1.09	0.20402	.	1.142500	0.06986	N	0.820738	T	0.38321	0.1036	L	0.43923	1.385	0.09310	N	1	D;P	0.54047	0.964;0.94	P;P	0.54889	0.763;0.584	T	0.28106	-1.0054	10	0.59425	D	0.04	.	7.2093	0.25925	0.0:0.6977:0.0:0.3023	.	307;425	O95613-2;O95613	.;PCNT_HUMAN	F	425;412	ENSP00000352572:S425F	ENSP00000338675:S412F	S	+	2	0	PCNT	46594092	0.000000	0.05858	0.002000	0.10522	0.150000	0.21749	0.006000	0.13152	0.251000	0.21505	0.551000	0.68910	TCC		PASS	0.468	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		22	56	22	56	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17071927	17071927	+	Missense_Mutation	SNP	C	C	T	rs539760208	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17071927C>T	ENST00000359963.3	-	1	1773	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	505					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.R505Q(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCCACTGCTCGAAATCCTTG	0.507																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1513-1515)CGA>CAA		T-complex protein 1							102.0	97.0	99.0					22																	17071927		2203	4296	6499	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071927C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1514G>A	22.37:g.17071927C>T	ENSP00000353048:p.Arg505Gln						p.R505Q	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1774	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	505					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1514G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	4.973	0.180811	0.09443	.	.	ENSG00000198445	ENST00000359963	T	0.77489	-1.1	1.98	0.831	0.18860	.	0.242758	0.21388	N	0.075346	T	0.61110	0.2321	L	0.38175	1.15	0.21527	N	0.999656	B	0.24721	0.11	B	0.18561	0.022	T	0.45086	-0.9285	10	0.31617	T	0.26	-5.5564	4.8473	0.13519	0.0:0.797:0.0:0.203	.	505	Q96SF2	TCPQM_HUMAN	Q	505	ENSP00000353048:R505Q	ENSP00000353048:R505Q	R	-	2	0	CCT8L2	15451927	0.000000	0.05858	0.437000	0.26809	0.287000	0.27160	-1.201000	0.03026	0.148000	0.19059	0.379000	0.24179	CGA		PASS	0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			68	56	68	56	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17073174	17073174	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17073174G>A	ENST00000359963.3	-	1	526	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	89					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.L89L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTCCCGGAGGAGCCATGCTG	0.612																																						uc002zlp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(265-267)CTC>CTT		T-complex protein 1							71.0	58.0	62.0					22																	17073174		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073174G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.267C>T	22.37:g.17073174G>A							p.L89L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	527	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	89					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.267C>T	CCDS13738.1																																																																																				PASS	0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			11	40	11	40	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17073361	17073361	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17073361T>C	ENST00000359963.3	-	1	339	c.80A>G	c.(79-81)gAa>gGa	p.E27G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	27					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.E27G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCCTCCTCTTCTGGACTCCT	0.662																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)GAA>GGA		T-complex protein 1							50.0	56.0	54.0					22																	17073361		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073361T>C	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.80A>G	22.37:g.17073361T>C	ENSP00000353048:p.Glu27Gly						p.E27G	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	340	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	27					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.80A>G	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	0.636	-0.815471	0.02776	.	.	ENSG00000198445	ENST00000359963	T	0.58210	0.35	1.81	0.712	0.18167	.	1.364160	0.05332	N	0.528468	T	0.29321	0.0730	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15435	-1.0437	10	0.23891	T	0.37	0.1462	4.1245	0.10121	0.0:0.7636:0.0:0.2364	.	27	Q96SF2	TCPQM_HUMAN	G	27	ENSP00000353048:E27G	ENSP00000353048:E27G	E	-	2	0	CCT8L2	15453361	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.318000	0.19504	0.109000	0.17891	-0.562000	0.04174	GAA		PASS	0.662	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			28	13	28	13	---	---	---	---
XKR3	150165	broad.mit.edu	37	22	17288864	17288864	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17288864G>A	ENST00000331428.5	-	2	202	c.100C>T	c.(100-102)Cct>Tct	p.P34S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P34S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATGCTAAAAGGAAAGCTTAGA	0.388																																						uc002zlv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(100-102)CCT>TCT		X Kell blood group precursor-related family,							117.0	113.0	114.0					22																	17288864		1885	4108	5993	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288864G>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.100C>T	22.37:g.17288864G>A	ENSP00000331704:p.Pro34Ser					XKR3_uc011agf.1_Missense_Mutation_p.P34S	p.P34S	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	198	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	34					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.100C>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	12.27	1.888539	0.33348	.	.	ENSG00000172967	ENST00000331428	T	0.73047	-0.71	0.539	0.539	0.17156	.	0.000000	0.64402	U	0.000001	T	0.76026	0.3930	L	0.57536	1.79	0.27831	N	0.941454	D	0.76494	0.999	D	0.77004	0.989	T	0.65319	-0.6197	10	0.54805	T	0.06	.	7.0016	0.24813	1.0E-4:0.0:0.9999:0.0	.	34	Q5GH77	XKR3_HUMAN	S	34	ENSP00000331704:P34S	ENSP00000331704:P34S	P	-	1	0	XKR3	15668864	0.971000	0.33674	0.047000	0.18901	0.045000	0.14185	1.429000	0.34903	0.580000	0.29522	0.297000	0.19635	CCT		PASS	0.388	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		32	55	32	55	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17578719	17578719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17578719C>T	ENST00000319363.6	+	3	329	c.196C>T	c.(196-198)Cga>Tga	p.R66*	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	66					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.R66*(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GATTCACCCTCGAAACCTGAC	0.577																																						uc002zly.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(196-198)CGA>TGA		interleukin 17A receptor precursor							112.0	85.0	94.0					22																	17578719		2203	4300	6503	SO:0001587	stop_gained	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17578719C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.196C>T	22.37:g.17578719C>T	ENSP00000320936:p.Arg66*					IL17RA_uc010gqt.2_Nonsense_Mutation_p.R66*	p.R66*	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	3	329	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	66			Extracellular (Potential).		O43844|Q20WK1	Nonsense_Mutation	SNP	ENST00000319363.6	37	c.196C>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208835	0.95069	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	.	.	.	5.07	2.86	0.33363	.	1.605590	0.03662	N	0.242671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5066	9.4083	0.38475	0.1621:0.6816:0.1563:0.0	.	.	.	.	X	66	.	ENSP00000320936:R66X	R	+	1	2	IL17RA	15958719	0.000000	0.05858	0.415000	0.26534	0.981000	0.71138	0.101000	0.15251	0.584000	0.29591	0.561000	0.74099	CGA		PASS	0.577	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		5	35	5	35	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17584437	17584437	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17584437C>T	ENST00000319363.6	+	8	949	c.816C>T	c.(814-816)aaC>aaT	p.N272N		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	272					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.N272N(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTCTACGCAACCTTAAAGGGT	0.557																																						uc002zly.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(814-816)AAC>AAT		interleukin 17A receptor precursor							115.0	69.0	85.0					22																	17584437		2203	4300	6503	SO:0001819	synonymous_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17584437C>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.816C>T	22.37:g.17584437C>T						IL17RA_uc010gqt.2_Silent_p.N272N	p.N272N	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	8	949	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	272			Extracellular (Potential).		O43844|Q20WK1	Silent	SNP	ENST00000319363.6	37	c.816C>T	CCDS13739.1																																																																																				PASS	0.557	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		14	10	14	10	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619484	17619484	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:17619484C>A	ENST00000336737.4	-	7	916	c.891G>T	c.(889-891)gaG>gaT	p.E297D	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.E267D	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	297				E -> G (in Ref. 2; BAA91475). {ECO:0000305}.		mitochondrion (GO:0005739)		p.E297D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AGCCCCGCCTCTCCGCCTGTC	0.602																																						uc002zmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GAG>GAT		cat eye syndrome chromosome region, candidate 5							125.0	132.0	129.0					22																	17619484		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619484C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.891G>T	22.37:g.17619484C>A	ENSP00000337358:p.Glu297Asp					CECR5_uc002zmd.2_Missense_Mutation_p.E108D|CECR5_uc002zme.2_Missense_Mutation_p.E89D|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.E267D	p.E297D	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			7	919	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	297	E -> G (in Ref. 2; BAA91475).				B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.891G>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287804	0.23478	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.23754	1.89;1.89	4.43	4.43	0.53597	HAD-like domain (2);	0.260218	0.44285	D	0.000469	T	0.29389	0.0732	L	0.45470	1.425	0.80722	D	1	B;P;P	0.39940	0.046;0.57;0.696	B;B;B	0.43838	0.067;0.196;0.433	T	0.02781	-1.1111	10	0.21014	T	0.42	-8.5788	17.5919	0.87999	0.0:1.0:0.0:0.0	.	267;297;161	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	D	267;297	ENSP00000155674:E267D;ENSP00000337358:E297D	ENSP00000155674:E267D	E	-	3	2	CECR5	15999484	0.957000	0.32711	0.505000	0.27651	0.010000	0.07245	2.203000	0.42752	2.451000	0.82905	0.549000	0.68633	GAG		PASS	0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		25	87	25	87	---	---	---	---
BCL2L13	23786	broad.mit.edu	37	22	18178929	18178929	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:18178929C>T	ENST00000317582.5	+	5	756	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.R137W|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Missense_Mutation_p.R137W|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000418951.2_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	137					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R137W(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TCAGGCATTTCGGGAATGTAC	0.368																																						uc002zmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(409-411)CGG>TGG		BCL2-like 13 (apoptosis facilitator)							94.0	94.0	94.0					22																	18178929		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18178929C>T	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.409C>T	22.37:g.18178929C>T	ENSP00000318883:p.Arg137Trp					BCL2L13_uc002zmu.2_Missense_Mutation_p.R137W|BCL2L13_uc002zmv.2_Missense_Mutation_p.R137W|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron	p.R137W	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	5	627	+		all_epithelial(15;0.123)	137					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.409C>T	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981406	0.74474	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680	T;T;T	0.04502	3.61;3.61;3.61	5.64	3.56	0.40772	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	M	0.69823	2.125	0.80722	D	1	B;D	0.89917	0.435;1.0	B;D	0.91635	0.111;0.999	T	0.00266	-1.1864	10	0.87932	D	0	-13.9445	6.6786	0.23108	0.1426:0.7093:0.0:0.1481	.	137;137	Q9BXK5;Q9BXK5-2	B2L13_HUMAN;.	W	137	ENSP00000382682:R137W;ENSP00000318883:R137W;ENSP00000434764:R137W	ENSP00000318883:R137W	R	+	1	2	BCL2L13	16558929	0.997000	0.39634	0.986000	0.45419	0.981000	0.71138	2.197000	0.42696	0.742000	0.32697	-0.140000	0.14226	CGG		PASS	0.368	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		28	22	28	22	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18387540	18387540	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:18387540G>A	ENST00000441493.2	-	3	682	c.330C>T	c.(328-330)gcC>gcT	p.A110A	MICAL3_ENST00000444520.1_Silent_p.A110A|MICAL3_ENST00000400561.2_Silent_p.A110A|MICAL3_ENST00000585038.1_Silent_p.A110A|MICAL3_ENST00000414725.2_Silent_p.A110A|MICAL3_ENST00000429452.1_Silent_p.A110A|MICAL3_ENST00000207726.7_Silent_p.A110A|MICAL3_ENST00000383094.3_Silent_p.A110A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	110	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A110A(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAACCACCTTGGCCCCCAGTA	0.537																																						uc002zng.3																			3	Substitution - coding silent(3)		lung(3)		0						c.(328-330)GCC>GCT		microtubule associated monoxygenase, calponin							109.0	99.0	102.0					22																	18387540		1568	3582	5150	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387540G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.330C>T	22.37:g.18387540G>A						MICAL3_uc011agl.1_Silent_p.A110A|MICAL3_uc002znh.2_Silent_p.A110A|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.A110A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.A110A|MICAL3_uc011agm.1_Silent_p.A110A	p.A110A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	683	-		all_epithelial(15;0.198)	110			FAD (Potential).		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.330C>T	CCDS46659.1																																																																																				PASS	0.537	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			49	48	49	48	---	---	---	---
TXNRD2	10587	broad.mit.edu	37	22	19903294	19903294	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:19903294C>T	ENST00000400521.1	-	6	528	c.522G>A	c.(520-522)ggG>ggA	p.G174G	TXNRD2_ENST00000334363.9_Silent_p.G174G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.G144G|TXNRD2_ENST00000535882.1_Silent_p.G173G|TXNRD2_ENST00000400519.1_Silent_p.G173G|TXNRD2_ENST00000400518.1_Silent_p.G144G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	174					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G174G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCTCTTTCCCACCTTTGG	0.483																																						uc011ahc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(520-522)GGG>GGA		thioredoxin reductase 2 precursor							88.0	94.0	92.0					22																	19903294		2015	4171	6186	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19903294C>T	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.522G>A	22.37:g.19903294C>T						TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.G173G|TXNRD2_uc010grv.1_Silent_p.G174G|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.G142G	p.G174G	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN			6	555	-	Colorectal(54;0.0993)		174					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.522G>A	CCDS42981.1																																																																																				PASS	0.483	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		18	18	18	18	---	---	---	---
ZNF74	7625	broad.mit.edu	37	22	20761087	20761087	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:20761087C>T	ENST00000400451.2	+	5	2278	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.F556F|ZNF74_ENST00000356671.5_Silent_p.F588F	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	588					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F588F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			Ccatccagttcaacaaacacc	0.587																																						uc010gsm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1762-1764)TTC>TTT		zinc finger protein 74							46.0	52.0	50.0					22																	20761087		2149	4258	6407	SO:0001819	synonymous_variant	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761087C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1764C>T	22.37:g.20761087C>T						ZNF74_uc002zsg.2_Silent_p.F517F|ZNF74_uc002zsh.2_Silent_p.F588F|ZNF74_uc002zsi.2_Silent_p.F517F|ZNF74_uc010gsn.2_Silent_p.F517F	p.F588F	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1976	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	588					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Silent	SNP	ENST00000400451.2	37	c.1764C>T	CCDS42982.1																																																																																				PASS	0.587	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		22	20	22	20	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21133804	21133804	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:21133804C>A	ENST00000215727.5	+	2	487	c.204C>A	c.(202-204)gaC>gaA	p.D68E	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.D68E|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	68	Chemotactic activity.				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D68E(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TCACCAACGACTGGATTCCAG	0.512																																						uc002ztb.1																			2	Substitution - Missense(2)		lung(2)		0						c.(202-204)GAC>GAA		heparin cofactor II precursor	Ardeparin(DB00407)						67.0	59.0	61.0					22																	21133804		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133804C>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.204C>A	22.37:g.21133804C>A	ENSP00000215727:p.Asp68Glu					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.D96E	p.D68E	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	271	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	68			Chemotactic activity.		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.204C>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273096	0.40194	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84370	-1.84;-1.84	5.75	2.5	0.30297	.	0.240862	0.47852	N	0.000208	T	0.76219	0.3957	L	0.41236	1.265	0.44168	D	0.996974	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.66384	-0.5937	10	0.40728	T	0.16	.	7.5697	0.27900	0.1234:0.6838:0.127:0.0659	.	68;68	Q8IVC0;P05546	.;HEP2_HUMAN	E	68	ENSP00000215727:D68E;ENSP00000384050:D68E	ENSP00000215727:D68E	D	+	3	2	SERPIND1	19463804	0.991000	0.36638	0.998000	0.56505	0.990000	0.78478	0.482000	0.22276	0.358000	0.24211	-0.136000	0.14681	GAC		PASS	0.512	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		7	36	7	36	---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21385699	21385700	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:21385699_21385700GG>AA	ENST00000382932.2	-	2	469_470	c.402_403CC>TT	c.(400-405)gcCCgt>gcTTgt	p.R135C	MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.R135C|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	135					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.R135C(2)|p.A134A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTCCAGGCACGGGCCACGGCGG	0.604																																						uc002zud.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|lung(1)	2						c.(403-405)CGT>TGT|c.(400-402)GCC>GCT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)																																			SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385699G>A|g.chr22:21385700G>A	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.402_403delinsAA	22.37:g.21385699_21385700delinsAA	ENSP00000372390:p.Arg135Cys					SLC7A4_uc002zue.2_Missense_Mutation_p.R135C|SLC7A4_uc002zue.2_Silent_p.A134A	p.R135C|p.A134A	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	471|470	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	135|134					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation|Silent	SNP	ENST00000382932.2	37	c.403C>T|c.402C>T	CCDS33608.1																																																																																				PASS	0.604	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		5	12|13	5	12	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21991155	21991155	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:21991155C>T	ENST00000292779.3	+	5	1799	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0								p.L546L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCCGCTCCCTCTACACCAACT	0.647																																						uc002zve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1636-1638)CTC>CTT		coiled-coil domain containing 116							64.0	71.0	69.0					22																	21991155		2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21991155C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1638C>T	22.37:g.21991155C>T							p.L546L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1731	+	Colorectal(54;0.105)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.1638C>T	CCDS13791.1																																																																																				PASS	0.647	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		15	24	15	24	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22316834	22316834	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:22316834C>T	ENST00000398793.2	-	13	1926	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E498K|TOP3B_ENST00000413067.2_Missense_Mutation_p.E227K	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	498					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.E498K(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTGATGAGCTCGGCCTCCGTC	0.642																																						uc002zvs.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(1492-1494)GAG>AAG		topoisomerase (DNA) III beta							94.0	83.0	87.0					22																	22316834		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22316834C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1492G>A	22.37:g.22316834C>T	ENSP00000381773:p.Glu498Lys					TOP3B_uc010gtm.1_Missense_Mutation_p.E43K|TOP3B_uc002zvr.2_Missense_Mutation_p.E223K|TOP3B_uc010gtl.2_Missense_Mutation_p.E498K|TOP3B_uc002zvt.3_Missense_Mutation_p.E498K	p.E498K	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	13	1927	-	Colorectal(54;0.105)		498					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1492G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162545	0.94727	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.22539	1.95;1.95;1.95	5.12	5.12	0.69794	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.80422	2.495	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.68039	0.939;0.955;0.924	T	0.56062	-0.8041	10	0.72032	D	0.01	.	18.5601	0.91097	0.0:1.0:0.0:0.0	.	43;498;498	B3KU89;O95985;O95985-2	.;TOP3B_HUMAN;.	K	498;498;227	ENSP00000349705:E498K;ENSP00000381773:E498K;ENSP00000393118:E227K	ENSP00000349705:E498K	E	-	1	0	TOP3B	20646834	1.000000	0.71417	0.956000	0.39512	0.651000	0.38670	7.446000	0.80609	2.368000	0.80403	0.563000	0.77884	GAG		PASS	0.642	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		13	40	13	40	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22322062	22322062	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:22322062G>A	ENST00000398793.2	-	8	1199	c.765C>T	c.(763-765)ctC>ctT	p.L255L	TOP3B_ENST00000357179.5_Silent_p.L255L|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	255					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.L255L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGTCCAAAAGGAGAGATCTGT	0.498																																						uc002zvs.2																			2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(763-765)CTC>CTT		topoisomerase (DNA) III beta							135.0	119.0	125.0					22																	22322062		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322062G>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.765C>T	22.37:g.22322062G>A						TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.L255L|TOP3B_uc002zvt.3_Silent_p.L255L	p.L255L	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1200	-	Colorectal(54;0.105)		255					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.765C>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418023	0.25552	.	.	ENSG00000100038	ENST00000457270	.	.	.	4.71	1.19	0.21007	.	.	.	.	.	T	0.58409	0.2120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51942	-0.8641	4	.	.	.	-2.8787	10.314	0.43725	0.0811:0.5259:0.3931:0.0	.	.	.	.	F	50	.	.	S	-	2	0	TOP3B	20652062	0.994000	0.37717	0.855000	0.33649	0.993000	0.82548	0.285000	0.18883	0.137000	0.18759	0.655000	0.94253	TCC		PASS	0.498	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		38	42	38	42	---	---	---	---
IGLV6-57	28778	broad.mit.edu	37	22	22550592	22550592	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:22550592C>T	ENST00000390285.3	+	0	355									immunoglobulin lambda variable 6-57																		GACAGCTCCTCCAACTCTGCC	0.562																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							66.0	71.0	70.0					22																	22550592		2051	4208	6259			96610							g.chr22:22550592C>T	Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550592C>T														11		+									RNA	SNP	ENST00000390285.3	37	c.1086C>T																																																																																					PASS	0.562	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320861.3	NG_000002		22	34	22	34	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869822	22869822	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:22869822C>T	ENST00000302097.3	-	2	385	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	45					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.E45K(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAGAGAACTTCAGCATCTCTA	0.413																																						uc002zwe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)GAA>AAA		zinc finger protein 280A							158.0	132.0	141.0					22																	22869822		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869822C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.133G>A	22.37:g.22869822C>T	ENSP00000302855:p.Glu45Lys					LOC96610_uc011aim.1_Intron	p.E45K	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	386	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	45						Missense_Mutation	SNP	ENST00000302097.3	37	c.133G>A	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945956	0.34377	.	.	ENSG00000169548	ENST00000302097	T	0.03717	3.83	3.8	2.78	0.32641	.	.	.	.	.	T	0.06050	0.0157	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.53760	0.734	T	0.35475	-0.9787	9	0.87932	D	0	-8.7336	7.3311	0.26584	0.0:0.8804:0.0:0.1196	.	45	P59817	Z280A_HUMAN	K	45	ENSP00000302855:E45K	ENSP00000302855:E45K	E	-	1	0	ZNF280A	21199822	0.022000	0.18835	0.006000	0.13384	0.038000	0.13279	1.365000	0.34182	1.169000	0.42739	0.650000	0.86243	GAA		PASS	0.413	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		45	51	45	51	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22890618	22890618	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:22890618G>A	ENST00000398741.1	-	6	1707	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	PRAME_ENST00000539862.1_Silent_p.L451L|PRAME_ENST00000424204.2_Silent_p.L451L|PRAME_ENST00000402697.1_Silent_p.L467L|PRAME_ENST00000398743.2_Silent_p.L467L|PRAME_ENST00000543184.1_Silent_p.L467L|PRAME_ENST00000405655.3_Silent_p.L467L|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	467	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.L467L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GCAACTCCCTGAGCCTGGCAT	0.592																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1399-1401)CTC>CTT		preferentially expressed antigen in melanoma							86.0	78.0	81.0					22																	22890618		2203	4300	6503	SO:0001819	synonymous_variant	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22890618G>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1401C>T	22.37:g.22890618G>A						LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.L451L|PRAME_uc010gtr.2_Silent_p.L467L|PRAME_uc002zwg.2_Silent_p.L467L|PRAME_uc002zwh.2_Silent_p.L467L|PRAME_uc002zwi.2_Silent_p.L467L|PRAME_uc002zwj.2_Silent_p.L467L|PRAME_uc002zwk.2_Silent_p.L467L	p.L467L	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1557	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	467			Mediates interaction with RARA.		B2R6Y7|O43481|Q8IXN8	Silent	SNP	ENST00000398741.1	37	c.1401C>T	CCDS13801.1																																																																																				PASS	0.592	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		17	43	17	43	---	---	---	---
IGLV2-23	28813	broad.mit.edu	37	22	23040635	23040635	+	RNA	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:23040635C>T	ENST00000390306.2	+	0	245				D86994.1_ENST00000385095.1_RNA					immunoglobulin lambda variable 2-23																		CAGCCTGCCTCCGTGTCTGGG	0.592																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							111.0	133.0	126.0					22																	23040635		2021	4202	6223			96610							g.chr22:23040635C>T	X14616		22q11.2	2012-02-08			ENSG00000211660	ENSG00000211660		"""Immunoglobulins / IGL locus"""	5890	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151234		22.37:g.23040635C>T														137		+									RNA	SNP	ENST00000390306.2	37	c.8542C>T																																																																																					PASS	0.592	IGLV2-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321839.2	NG_000002		51	142	51	142	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438057	23438057	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:23438057G>T	ENST00000248996.4	+	2	841	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	59					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)	p.G59C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CATCCACAGCGGCGGCTTCAA	0.602																																						uc002zwu.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(175-177)GGC>TGC		guanine nucleotide binding protein, alpha z							137.0	141.0	140.0					22																	23438057		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438057G>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.175G>T	22.37:g.23438057G>T	ENSP00000248996:p.Gly59Cys					RTDR1_uc002zwt.2_Intron	p.G59C	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	712	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		59					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.175G>T	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176615	0.38413	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.89196	-2.48	4.95	2.87	0.33458	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	L	0.56280	1.765	0.58432	D	0.999995	P	0.48834	0.916	B	0.40602	0.334	D	0.83462	0.0054	10	0.72032	D	0.01	.	10.4464	0.44497	0.1583:0.0:0.8417:0.0	.	59	P19086	GNAZ_HUMAN	C	59;7	ENSP00000248996:G59C	ENSP00000248996:G59C	G	+	1	0	GNAZ	21768057	1.000000	0.71417	0.068000	0.19968	0.098000	0.18820	9.570000	0.98174	0.618000	0.30179	-0.136000	0.14681	GGC		PASS	0.602	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		5	86	5	86	---	---	---	---
BCR	613	broad.mit.edu	37	22	23656897	23656897	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:23656897C>T	ENST00000305877.8	+	22	4473	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	BCR_ENST00000359540.3_Missense_Mutation_p.S1197F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1241	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1241F(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GAGGTCATGTCCCAGGTATGG	0.627			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(3721-3723)TCC>TTC		breakpoint cluster region isoform 1							44.0	33.0	37.0					22																	23656897		2203	4300	6503	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23656897C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3722C>T	22.37:g.23656897C>T	ENSP00000303507:p.Ser1241Phe					BCR_uc002zwx.2_Missense_Mutation_p.S1197F|BCR_uc011aiy.1_Missense_Mutation_p.S830F	p.S1241F	NM_004327	NP_004318	P11274	BCR_HUMAN			22	4318	+			1241			Rho-GAP.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.3722C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.711017	0.89112	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.27720	1.65;1.7	4.64	4.64	0.57946	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.063063	0.64402	D	0.000004	T	0.35828	0.0945	N	0.24115	0.695	0.80722	D	1	P;D;P	0.57571	0.738;0.98;0.823	B;P;P	0.55713	0.379;0.782;0.459	T	0.17806	-1.0357	10	0.49607	T	0.09	.	16.8662	0.86029	0.0:1.0:0.0:0.0	.	830;1197;1241	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	F	1241;1197;906	ENSP00000303507:S1241F;ENSP00000352535:S1197F	ENSP00000303507:S1241F	S	+	2	0	BCR	21986897	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.507000	0.81676	2.298000	0.77334	0.305000	0.20034	TCC		PASS	0.627	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		10	12	10	12	---	---	---	---
RGL4	266747	broad.mit.edu	37	22	24034555	24034555	+	Silent	SNP	C	C	A	rs569466824	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:24034555C>A	ENST00000290691.5	+	2	1383	c.213C>A	c.(211-213)ccC>ccA	p.P71P	KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	71					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P71P(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ACTGGCCCCCCGAAAACACTT	0.577																																						uc002zxn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)CCC>CCA		ral guanine nucleotide dissociation							219.0	211.0	214.0					22																	24034555		2203	4300	6503	SO:0001819	synonymous_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034555C>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.213C>A	22.37:g.24034555C>A						LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Silent_p.P71P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR	p.P71P	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			2	1383	+			71					Q495L8	Silent	SNP	ENST00000290691.5	37	c.213C>A	CCDS13811.1																																																																																				PASS	0.577	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		5	155	5	155	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24580109	24580109	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:24580109C>T	ENST00000358321.3	+	4	706	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	149					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P149S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCAGTGCACCCCAACAAAGT	0.632																																						uc002zzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(445-447)CCC>TCC		sushi domain containing 2 precursor							116.0	88.0	98.0					22																	24580109		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580109C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.445C>T	22.37:g.24580109C>T	ENSP00000351075:p.Pro149Ser						p.P149S	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			4	489	+			149			Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.445C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973837	0.34848	.	.	ENSG00000099994	ENST00000358321	T	0.09723	2.95	3.66	3.66	0.41972	.	0.374553	0.27759	N	0.017961	T	0.25901	0.0631	L	0.58669	1.825	0.34668	D	0.72343	D	0.76494	0.999	D	0.66716	0.946	T	0.28522	-1.0041	10	0.44086	T	0.13	-23.344	13.43	0.61049	0.0:1.0:0.0:0.0	.	149	Q9UGT4	SUSD2_HUMAN	S	149	ENSP00000351075:P149S	ENSP00000351075:P149S	P	+	1	0	SUSD2	22910109	0.977000	0.34250	1.000000	0.80357	0.896000	0.52359	2.169000	0.42434	2.098000	0.63641	0.444000	0.29173	CCC		PASS	0.632	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		39	41	39	41	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24829655	24829655	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:24829655C>T	ENST00000337539.7	+	2	742	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	95					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.L95F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CATCTTCAGTCTCCTGGCCAT	0.612																																						uc002zzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CTC>TTC		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						109.0	86.0	94.0					22																	24829655		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829655C>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.283C>T	22.37:g.24829655C>T	ENSP00000336630:p.Leu95Phe					ADORA2A_uc002zzy.3_Missense_Mutation_p.L95F|ADORA2A_uc011ajs.1_Intron|C22orf45_uc003aaa.1_5'Flank|ADORA2A_uc010guo.1_Missense_Mutation_p.S114F|ADORA2A_uc010gup.2_Missense_Mutation_p.L95F|ADORA2A_uc010guq.2_Missense_Mutation_p.L95F|ADORA2A_uc003aab.2_Missense_Mutation_p.L95F|ADORA2A_uc003aac.2_5'UTR	p.L95F	NM_000675	NP_000666	P29274	AA2AR_HUMAN			4	1046	+	Colorectal(2;0.196)		95			Helical; Name=3.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.283C>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175053	0.94807	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.81415	-1.49;-1.49	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95157	0.8278	10	0.87932	D	0	-36.2368	16.4299	0.83839	0.0:1.0:0.0:0.0	.	95	P29274	AA2AR_HUMAN	F	95	ENSP00000414802:L95F;ENSP00000336630:L95F	ENSP00000336630:L95F	L	+	1	0	ADORA2A	23159655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.765000	0.68834	2.350000	0.79820	0.561000	0.74099	CTC		PASS	0.612	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		15	15	15	15	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24837072	24837072	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:24837072C>T	ENST00000337539.7	+	3	1313	c.854C>T	c.(853-855)cCc>cTc	p.P285L	ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	285					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.P285L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GTTGTGAATCCCTTCATCTAC	0.572																																						uc002zzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)CCC>CTC		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						91.0	84.0	86.0					22																	24837072		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837072C>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.854C>T	22.37:g.24837072C>T	ENSP00000336630:p.Pro285Leu					ADORA2A_uc002zzy.3_Missense_Mutation_p.P285L|ADORA2A_uc011ajs.1_Missense_Mutation_p.P146L|ADORA2A_uc010gup.2_Missense_Mutation_p.P285L|ADORA2A_uc010guq.2_Missense_Mutation_p.P285L|ADORA2A_uc003aab.2_Missense_Mutation_p.P285L|ADORA2A_uc003aac.2_Missense_Mutation_p.P146L|C22orf45_uc003aad.1_Intron	p.P285L	NM_000675	NP_000666	P29274	AA2AR_HUMAN			5	1617	+	Colorectal(2;0.196)		285			Helical; Name=7.		B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.854C>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079599	0.94050	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	D;D	0.98807	-5.15;-5.15	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97835	1.0265	10	0.87932	D	0	-43.8606	17.8809	0.88840	0.0:1.0:0.0:0.0	.	285	P29274	AA2AR_HUMAN	L	285	ENSP00000414802:P285L;ENSP00000336630:P285L	ENSP00000336630:P285L	P	+	2	0	ADORA2A	23167072	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	7.590000	0.82653	2.473000	0.83533	0.462000	0.41574	CCC		PASS	0.572	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		9	31	9	31	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25264494	25264494	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:25264494C>T	ENST00000400359.4	+	11	1153	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	SGSM1_ENST00000400358.4_Silent_p.S382S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	382						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.S382S(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CACTGTGGTCCCAGAGGGGTA	0.627																																						uc003abg.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1144-1146)TCC>TCT		RUN and TBC1 domain containing 2 isoform 1							48.0	51.0	50.0					22																	25264494		2006	4157	6163	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25264494C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1146C>T	22.37:g.25264494C>T						SGSM1_uc003abh.2_Silent_p.S382S|SGSM1_uc010guu.1_Silent_p.S382S|SGSM1_uc003abj.2_Silent_p.S382S|SGSM1_uc003abi.1_Silent_p.S357S	p.S382S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			11	1303	+			382					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.1146C>T	CCDS46674.1																																																																																				PASS	0.627	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		7	31	7	31	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164576	26164576	+	Silent	SNP	G	G	A	rs371846989		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:26164576G>A	ENST00000407587.2	+	4	862	c.693G>A	c.(691-693)ctG>ctA	p.L231L	MYO18B_ENST00000335473.7_Silent_p.L231L|MYO18B_ENST00000536101.1_Silent_p.L231L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	231						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L231L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGGCACTGAAAAAAGGCG	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		14416	0.0		0.001	False		,,,				2504	0.0					uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(691-693)CTG>CTA		myosin XVIIIB				0,3754		0,0,1877	30.0	35.0	33.0		693	-1.2	0.0	22		33	1,8183		0,1,4091	no	coding-synonymous	MYO18B	NM_032608.5		0,1,5968	AA,AG,GG		0.0122,0.0,0.0084		231/2568	26164576	1,11937	1877	4092	5969	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164576G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.693G>A	22.37:g.26164576G>A						MYO18B_uc003aca.1_Silent_p.L112L|MYO18B_uc010guy.1_Silent_p.L112L|MYO18B_uc010guz.1_Silent_p.L112L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.L231L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	943	+			231					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.693G>A																																																																																					PASS	0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	13	4	13	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26166090	26166090	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:26166090G>A	ENST00000407587.2	+	5	1695	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	MYO18B_ENST00000335473.7_Missense_Mutation_p.R509K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R509K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	509						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R509K(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGAGGACAGATGGTATGAG	0.502																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(1525-1527)AGA>AAA		myosin XVIIIB							171.0	170.0	170.0					22																	26166090		1982	4169	6151	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26166090G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1526G>A	22.37:g.26166090G>A	ENSP00000386096:p.Arg509Lys					MYO18B_uc003aca.1_Missense_Mutation_p.R390K|MYO18B_uc010guy.1_Missense_Mutation_p.R390K|MYO18B_uc010guz.1_Missense_Mutation_p.R390K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.R22K	p.R509K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			5	1776	+			509					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1526G>A		.	.	.	.	.	.	.	.	.	.	G	16.58	3.162178	0.57368	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86865	-2.16;-2.16;-2.18	4.52	4.52	0.55395	.	0.191863	0.35870	N	0.002936	D	0.89501	0.6733	M	0.64997	1.995	0.25623	N	0.986371	D;D;D;D	0.69078	0.996;0.995;0.996;0.997	P;P;P;P	0.58454	0.789;0.695;0.789;0.839	T	0.82426	-0.0463	10	0.44086	T	0.13	.	10.4432	0.44477	0.0:0.0:0.6823:0.3177	.	22;509;509;509	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	509	ENSP00000441229:R509K;ENSP00000334563:R509K;ENSP00000386096:R509K	ENSP00000334563:R509K	R	+	2	0	MYO18B	24496090	0.991000	0.36638	0.999000	0.59377	0.627000	0.37826	2.101000	0.41787	2.062000	0.61559	0.313000	0.20887	AGA		PASS	0.502	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		32	41	32	41	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422503	26422503	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:26422503G>A	ENST00000407587.2	+	43	6735	c.6566G>A	c.(6565-6567)gGa>gAa	p.G2189E	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2188E|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2188E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2188						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G2189E(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGACCTCAGGAGACAAGCCT	0.557																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6562-6564)GGA>GAA		myosin XVIIIB							60.0	69.0	66.0					22																	26422503		1977	4156	6133	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422503G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6566G>A	22.37:g.26422503G>A	ENSP00000386096:p.Gly2189Glu					MYO18B_uc003aca.1_Missense_Mutation_p.G2069E|MYO18B_uc010guy.1_Missense_Mutation_p.G2070E|MYO18B_uc010guz.1_Missense_Mutation_p.G2068E|MYO18B_uc011aka.1_Missense_Mutation_p.G1342E|MYO18B_uc011akb.1_Missense_Mutation_p.G1701E|MYO18B_uc010gva.1_Missense_Mutation_p.G171E|MYO18B_uc010gvb.1_RNA	p.G2188E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	6813	+			2188					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6563G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.78|11.78	1.739508|1.739508	0.30774|0.30774	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86627	.|-2.13;-2.13;-2.15	5.01|5.01	2.78|2.78	0.32641|0.32641	.|.	.|0.470397	.|0.16243	.|N	.|0.223047	D|D	0.83202|0.83202	0.5203|0.5203	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|B;B;B;P;B	.|0.36909	.|0.16;0.028;0.028;0.573;0.047	.|B;B;B;B;B	.|0.39217	.|0.128;0.01;0.01;0.294;0.023	T|T	0.70215|0.70215	-0.4933|-0.4933	5|10	.|0.20519	.|T	.|0.43	.|.	7.9872|7.9872	0.30218|0.30218	0.0956:0.2256:0.6788:0.0|0.0956:0.2256:0.6788:0.0	.|.	.|1701;2190;2188;2189;2188	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	K|E	138|2188;2188;2189	.|ENSP00000441229:G2188E;ENSP00000334563:G2188E;ENSP00000386096:G2189E	.|ENSP00000334563:G2188E	E|G	+|+	1|2	0|0	MYO18B|MYO18B	24752503|24752503	0.008000|0.008000	0.16893|0.16893	0.002000|0.002000	0.10522|0.10522	0.024000|0.024000	0.10985|0.10985	1.007000|1.007000	0.29860|0.29860	1.235000|1.235000	0.43724|0.43724	0.591000|0.591000	0.81541|0.81541	GAG|GGA		PASS	0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		29	33	29	33	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26761418	26761418	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:26761418G>A	ENST00000248933.6	+	13	2775	c.2680G>A	c.(2680-2682)Gga>Aga	p.G894R	SEZ6L_ENST00000529632.2_Missense_Mutation_p.G894R|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G667R|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G91R|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G830R|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G894R			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	894	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G894R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTACCTGCCAGGAGAGTCCCT	0.567																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2680-2682)GGA>AGA		seizure related 6 homolog (mouse)-like							113.0	97.0	103.0					22																	26761418		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761418G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2680G>A	22.37:g.26761418G>A	ENSP00000248933:p.Gly894Arg					SEZ6L_uc003acc.2_Missense_Mutation_p.G894R|SEZ6L_uc011akc.1_Missense_Mutation_p.G894R|SEZ6L_uc003acd.2_Missense_Mutation_p.G830R|SEZ6L_uc011akd.1_Missense_Mutation_p.G894R|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.G667R|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	p.G894R	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			13	2836	+			894			Sushi 5.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2680G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898034	0.91962	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000402979;ENST00000411842	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.53938	D	0.000041	D	0.87350	0.6155	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89541	0.3792	10	0.87932	D	0	.	18.0747	0.89423	0.0:0.0:1.0:0.0	.	894;894;830;894;894	B7ZLJ8;B7ZLJ6;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;SE6L1_HUMAN	R	894;894;830;894;667;91	ENSP00000384772:G894R;ENSP00000437037:G894R;ENSP00000354185:G830R;ENSP00000248933:G894R;ENSP00000384733:G667R;ENSP00000397274:G91R	ENSP00000248933:G894R	G	+	1	0	SEZ6L	25091418	1.000000	0.71417	0.556000	0.28293	0.994000	0.84299	9.086000	0.94088	2.735000	0.93741	0.655000	0.94253	GGA		PASS	0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			9	52	9	52	---	---	---	---
CHEK2	11200	broad.mit.edu	37	22	29092948	29092948	+	Missense_Mutation	SNP	G	G	C	rs201206424		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:29092948G>C	ENST00000405598.1	-	11	1227	c.1036C>G	c.(1036-1038)Cgt>Ggt	p.R346G	CHEK2_ENST00000544772.1_Missense_Mutation_p.R125G|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.R389G|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.R255G|CHEK2_ENST00000404276.1_Missense_Mutation_p.R346G|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.R255G|CHEK2_ENST00000328354.6_Missense_Mutation_p.R346G			O96017	CHK2_HUMAN	checkpoint kinase 2	346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R346G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTAAGTCACGGTGTATAATA	0.383			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Substitution - Missense(1)	p.R346H(1)	lung(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1036-1038)CGT>GGT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							132.0	112.0	119.0					22																	29092948		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092948G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1036C>G	22.37:g.29092948G>C	ENSP00000386087:p.Arg346Gly					CHEK2_uc003ads.1_Missense_Mutation_p.R125G|CHEK2_uc010gvh.1_Missense_Mutation_p.R255G|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R389G|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Missense_Mutation_p.R346G|CHEK2_uc003adx.1_Missense_Mutation_p.R125G|CHEK2_uc003ady.1_Missense_Mutation_p.R346G|CHEK2_uc003adz.1_Missense_Mutation_p.R150G	p.R346G	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1108	-			346			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1036C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884186	0.72410	.	.	ENSG00000183765	ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.65	3.5	0.40072	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.82472	-0.0440	10	0.87932	D	0	-1.4542	10.0972	0.42482	0.0715:0.0:0.7921:0.1363	.	255;125;346;346;389	O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	G	255;125;346;346;346;389;255;279	ENSP00000372021:R255G;ENSP00000442458:R125G;ENSP00000329178:R346G;ENSP00000385747:R346G;ENSP00000386087:R346G;ENSP00000372023:R389G;ENSP00000384919:R255G;ENSP00000397478:R279G	ENSP00000329178:R346G	R	-	1	0	CHEK2	27422948	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	2.736000	0.47385	1.385000	0.46445	-0.145000	0.13849	CGT		PASS	0.383	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	27	5	27	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29445418	29445418	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:29445418C>T	ENST00000544604.2	+	8	1424	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	ZNRF3_ENST00000406323.3_Missense_Mutation_p.R317C|ZNRF3_ENST00000402174.1_Missense_Mutation_p.R317C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.R317C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	417					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R317C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGCCTACATCCGCAGCTACCC	0.692																																						uc003aeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CGC>TGC		zinc and ring finger 3							32.0	39.0	37.0					22																	29445418		2109	4212	6321	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445418C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1249C>T	22.37:g.29445418C>T	ENSP00000443824:p.Arg417Cys					ZNRF3_uc003aeh.1_Missense_Mutation_p.R317C	p.R317C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	1114	+			417			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.949C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011275	0.54361	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.11495	2.89;2.77;2.77;2.77	5.53	3.37	0.38596	.	0.339711	0.35378	N	0.003242	T	0.16854	0.0405	L	0.56769	1.78	0.45621	D	0.998559	D	0.89917	1.0	P	0.53360	0.724	T	0.01084	-1.1457	10	0.72032	D	0.01	-17.0377	5.6838	0.17790	0.1419:0.6462:0.1372:0.0747	.	417	Q9ULT6	ZNRF3_HUMAN	C	417;317;124;317;317	ENSP00000443824:R417C;ENSP00000328614:R317C;ENSP00000384456:R317C;ENSP00000384553:R317C	ENSP00000328614:R317C	R	+	1	0	ZNRF3	27775418	1.000000	0.71417	0.989000	0.46669	0.764000	0.43329	3.584000	0.53936	1.287000	0.44583	0.655000	0.94253	CGC		PASS	0.692	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		6	3	6	3	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885616	29885616	+	Missense_Mutation	SNP	C	C	T	rs267607534|rs267607535		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:29885616C>T	ENST00000310624.6	+	4	2020	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	669	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P663S(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGCCAAGTCCCCTGAGAAGGC	0.572																																						uc003afo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)CCT>TCT		neurofilament, heavy polypeptide 200kDa							102.0	108.0	106.0					22																	29885616		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885616C>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1987C>T	22.37:g.29885616C>T	ENSP00000311997:p.Pro663Ser					NEFH_uc003afp.2_5'UTR	p.P663S	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2058	+			669			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|15.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1987C>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221111	0.22457	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.85339	-1.97	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000066	D	0.91205	0.7229	M	0.68593	2.085	0.23101	N	0.998298	D	0.69078	0.997	D	0.79784	0.993	D	0.85154	0.0988	10	0.87932	D	0	.	15.862	0.79032	0.0:1.0:0.0:0.0	.	669	P12036	NFH_HUMAN	S	663	ENSP00000311997:P663S	ENSP00000311997:P663S	P	+	1	0	NEFH	28215616	0.833000	0.29383	0.672000	0.29872	0.054000	0.15201	2.111000	0.41883	2.570000	0.86706	0.655000	0.94253	CCT		PASS	0.572	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		93	88	93	88	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415629	30415629	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:30415629C>T	ENST00000401950.2	+	17	2323	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	MTMR3_ENST00000351488.3_Missense_Mutation_p.L661F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.L525F|MTMR3_ENST00000406629.1_Missense_Mutation_p.L661F|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.L661F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	661					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.L661F(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGAGGATCCCCTTTCTGCCGA	0.657																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1981-1983)CTT>TTT		myotubularin-related protein 3 isoform c							52.0	61.0	58.0					22																	30415629		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415629C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1981C>T	22.37:g.30415629C>T	ENSP00000384651:p.Leu661Phe					MTMR3_uc003agu.3_Missense_Mutation_p.L661F|MTMR3_uc003agw.3_Missense_Mutation_p.L661F	p.L661F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2309	+			661					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1981C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	3.273	-0.148661	0.06627	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93307	-3.01;-2.98;-3.2;-3.03;-2.98	5.91	-1.97	0.07503	.	1.338670	0.04470	N	0.375826	T	0.80747	0.4682	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.71417	-0.4599	10	0.09843	T	0.71	.	1.3447	0.02161	0.1565:0.2232:0.155:0.4653	.	661;661;661	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	661;661;525;661;661	ENSP00000384651:L661F;ENSP00000331649:L661F;ENSP00000318070:L525F;ENSP00000307271:L661F;ENSP00000384077:L661F	ENSP00000318070:L525F	L	+	1	0	MTMR3	28745629	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	0.094000	0.15107	-0.096000	0.12329	0.655000	0.94253	CTT		PASS	0.657	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		19	38	19	38	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30688370	30688370	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:30688370G>A	ENST00000215790.7	-	9	1685	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.Y514Y|GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403362.1_Silent_p.Y419Y|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	507	Binding to the PDZ domain of EBP50.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.Y507Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGGTTACAAGTAGGTGTCCT	0.597																																						uc011akt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1519-1521)TAC>TAT		TBC1 domain family, member 10A							114.0	125.0	121.0					22																	30688370		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688370G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1521C>T	22.37:g.30688370G>A						GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Silent_p.Y419Y|TBC1D10A_uc010gvu.2_Silent_p.Y514Y|TBC1D10A_uc003ahk.3_Silent_p.Y507Y	p.Y507Y	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1545	-			507			Binding to the PDZ domain of EBP50.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.1521C>T	CCDS13874.1																																																																																				PASS	0.597	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		55	76	55	76	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30688692	30688692	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:30688692G>A	ENST00000215790.7	-	9	1363	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.P407L|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.P312L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	400					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.P400L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGCAGGCCGGGGACCAGGTTC	0.662																																						uc011akt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1198-1200)CCC>CTC		TBC1 domain family, member 10A							42.0	48.0	46.0					22																	30688692		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688692G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1199C>T	22.37:g.30688692G>A	ENSP00000215790:p.Pro400Leu					GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|TBC1D10A_uc003ahj.3_Missense_Mutation_p.P312L|TBC1D10A_uc010gvu.2_Missense_Mutation_p.P407L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.P400L	p.P400L	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1223	-			400					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1199C>T	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432865	0.25813	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.04758	3.57;3.56;3.58	5.51	4.5	0.54988	.	0.205840	0.48286	D	0.000198	T	0.05273	0.0140	L	0.43152	1.355	0.38240	D	0.941283	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24621	-1.0155	10	0.46703	T	0.11	.	8.2931	0.31969	0.0793:0.0:0.7659:0.1548	.	400;407;400	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	L	400;407;312	ENSP00000215790:P400L;ENSP00000384996:P407L;ENSP00000385050:P312L	ENSP00000215790:P400L	P	-	2	0	TBC1D10A	29018692	1.000000	0.71417	0.948000	0.38648	0.309000	0.27889	2.317000	0.43770	1.483000	0.48342	0.561000	0.74099	CCC		PASS	0.662	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		17	23	17	23	---	---	---	---
CCDC157	550631	broad.mit.edu	37	22	30762204	30762204	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:30762204C>T	ENST00000405659.1	+	3	924	c.215C>T	c.(214-216)tCc>tTc	p.S72F	CCDC157_ENST00000338306.3_Missense_Mutation_p.S72F|CCDC157_ENST00000399824.2_Missense_Mutation_p.S72F			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	72								p.S72F(1)|p.S21F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACGCAGCTGTCCCATGCCGTG	0.617																																						uc011aku.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(214-216)TCC>TTC		coiled-coil domain containing 157							139.0	115.0	123.0					22																	30762204		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30762204C>T	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.215C>T	22.37:g.30762204C>T	ENSP00000385357:p.Ser72Phe					CCDC157_uc011akv.1_Missense_Mutation_p.S72F	p.S72F	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			3	875	+			72					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.215C>T	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329698	0.81690	.	.	ENSG00000187860	ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T;T	0.54866	0.55;1.47;1.47;1.14;1.14	5.25	5.25	0.73442	.	0.151345	0.44483	D	0.000457	T	0.67776	0.2929	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.70241	-0.4926	10	0.87932	D	0	-22.0406	17.3819	0.87407	0.0:1.0:0.0:0.0	.	72	Q569K6	CC157_HUMAN	F	72	ENSP00000382720:S72F;ENSP00000385357:S72F;ENSP00000343087:S72F;ENSP00000387491:S72F;ENSP00000401837:S72F	ENSP00000343087:S72F	S	+	2	0	CCDC157	29092204	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.504000	0.66968	2.613000	0.88420	0.455000	0.32223	TCC		PASS	0.617	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		22	70	22	70	---	---	---	---
SEC14L2	23541	broad.mit.edu	37	22	30795663	30795665	+	Missense_Mutation	TNP	CCC	CCC	TTT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:30795663_30795665CCC>TTT	ENST00000312932.9	+	2	346_348	c.86_88CCC>TTT	c.(85-90)gCCCtg>gTTTtg	p.A29V	SEC14L2_ENST00000405717.3_Missense_Mutation_p.A29V|SEC14L2_ENST00000403484.1_Intron|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000402592.3_Missense_Mutation_p.A29V	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	29					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.A29V(1)|p.L30L(1)|p.A29A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GTGCTGCCGGCCCTGCCGAATCC	0.621																																						uc003ahr.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)		0						c.(85-87)GCC>GTC|c.(85-87)GCC>GCT|c.(88-90)CTG>TTG		SEC14-like 2 isoform 1	Vitamin E(DB00163)																																			SO:0001583	missense	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30795663C>T|g.chr22:30795664C>T|g.chr22:30795665C>T	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.86_88CCC>TTT	22.37:g.30795663CCC>TTT	ENSP00000316203:p.Ala29Val					SEC14L2_uc003ahq.2_Missense_Mutation_p.A29V|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Missense_Mutation_p.A29V|SEC14L2_uc003ahq.2_Silent_p.A29A|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Silent_p.A29A|SEC14L2_uc003ahq.2_Silent_p.L30L|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Silent_p.L30L	p.A29V|p.A29A|p.L30L	NM_012429	NP_036561	O76054	S14L2_HUMAN			2	259|260|261	+			29|29|30					B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation|Silent|Silent	SNP	ENST00000312932.9	37	c.86C>T|c.87C>T|c.88C>T	CCDS13876.1																																																																																				PASS	0.621	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		10|10|11	12	10	12	---	---	---	---
SLC35E4	339665	broad.mit.edu	37	22	31043001	31043001	+	Missense_Mutation	SNP	C	C	T	rs148051825		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:31043001C>T	ENST00000343605.4	+	2	1835	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	346						integral component of membrane (GO:0016021)		p.P346S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GAGGGACCAGCCCAGCAAGGG	0.617																																						uc003ais.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)CCC>TCC		solute carrier family 35, member E4							30.0	28.0	29.0					22																	31043001		2203	4300	6503	SO:0001583	missense	339665					integral to membrane		g.chr22:31043001C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.1036C>T	22.37:g.31043001C>T	ENSP00000339626:p.Pro346Ser					SLC35E4_uc003ait.2_Intron	p.P346S	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			2	1681	+			346					Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.1036C>T	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911540	0.33721	.	.	ENSG00000100036	ENST00000343605	.	.	.	3.61	0.169	0.15017	.	0.497517	0.20451	N	0.092083	T	0.27419	0.0673	N	0.14661	0.345	0.53688	D	0.999978	B	0.13594	0.008	B	0.12156	0.007	T	0.06041	-1.0849	9	0.12766	T	0.61	-11.4093	7.0934	0.25297	0.5228:0.3213:0.1559:0.0	.	346	Q6ICL7	S35E4_HUMAN	S	346	.	ENSP00000339626:P346S	P	+	1	0	SLC35E4	29373001	0.001000	0.12720	0.883000	0.34634	0.937000	0.57800	-0.044000	0.12023	0.116000	0.18110	-0.304000	0.09214	CCC		PASS	0.617	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		3	17	3	17	---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31324124	31324124	+	Missense_Mutation	SNP	G	G	A	rs142559213		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:31324124G>A	ENST00000397641.3	-	25	3320	c.2912C>T	c.(2911-2913)tCc>tTc	p.S971F	MORC2_ENST00000215862.4_Missense_Mutation_p.S909F|MORC2-AS1_ENST00000441558.1_RNA|MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000609557.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	971						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S909F(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTGGCCCGGGAGTCAGCACG	0.577																																						uc003aje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2725-2727)TCC>TTC		MORC family CW-type zinc finger 2							79.0	72.0	74.0					22																	31324124		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31324124G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2912C>T	22.37:g.31324124G>A	ENSP00000380763:p.Ser971Phe						p.S909F	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			26	4090	-			971			Potential.		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.344302	0.82022	.	.	ENSG00000133422	ENST00000397641;ENST00000429468;ENST00000215862	T;T	0.12672	2.66;2.66	5.13	5.13	0.70059	.	0.253190	0.39341	N	0.001396	T	0.13200	0.0320	N	0.24115	0.695	0.80722	D	1	P	0.45348	0.856	P	0.44477	0.451	T	0.02087	-1.1216	10	0.72032	D	0.01	.	14.2191	0.65812	0.0:0.1494:0.8506:0.0	.	971	Q9Y6X9	MORC2_HUMAN	F	971;31;909	ENSP00000380763:S971F;ENSP00000215862:S909F	ENSP00000215862:S909F	S	-	2	0	MORC2	29654124	1.000000	0.71417	0.935000	0.37517	0.822000	0.46500	6.286000	0.72665	2.382000	0.81193	0.561000	0.74099	TCC		PASS	0.577	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		4	22	4	22	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31722996	31722996	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:31722996G>A	ENST00000266269.5	-	5	2574	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.P603S	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	649					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P649S(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTCTGCTGAGGAGAGAAAGGT	0.552																																						uc003akq.2																		EWSR1/PATZ1(2)	1	Substitution - Missense(1)		lung(1)	soft_tissue(2)	2						c.(1945-1947)CCT>TCT		POZ (BTB) and AT hook containing zinc finger 1							67.0	71.0	70.0					22																	31722996		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31722996G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1945C>T	22.37:g.31722996G>A	ENSP00000266269:p.Pro649Ser					PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.P603S	p.P649S	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			5	2606	-			649					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1945C>T	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317002	0.81469	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.12879	2.76;2.64	5.49	5.49	0.81192	.	0.346325	0.30269	N	0.010005	T	0.25791	0.0628	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.917;0.997	T	0.04796	-1.0926	10	0.62326	D	0.03	-12.4302	18.3476	0.90327	0.0:0.0:1.0:0.0	.	603;649	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	S	649;603	ENSP00000266269:P649S;ENSP00000337520:P603S	ENSP00000266269:P649S	P	-	1	0	PATZ1	30052996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.330000	0.79181	2.569000	0.86673	0.585000	0.79938	CCT		PASS	0.552	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		12	49	12	49	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31864273	31864273	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:31864273G>A	ENST00000397525.1	-	4	409	c.186C>T	c.(184-186)gaC>gaT	p.D62D	EIF4ENIF1_ENST00000397523.1_Silent_p.D62D|EIF4ENIF1_ENST00000330125.5_Silent_p.D62D|EIF4ENIF1_ENST00000344710.5_Silent_p.D62D	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	62						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.D62D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACTTCTCAGGGTCCCAGACAC	0.498																																						uc003akz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(184-186)GAC>GAT		eukaryotic translation initiation factor 4E							99.0	84.0	89.0					22																	31864273		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31864273G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.186C>T	22.37:g.31864273G>A						EIF4ENIF1_uc003ala.1_Silent_p.D62D|EIF4ENIF1_uc003alb.1_Silent_p.D62D|EIF4ENIF1_uc003alc.1_Silent_p.D62D	p.D62D	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			4	350	-			62					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.186C>T	CCDS13898.1																																																																																				PASS	0.498	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		20	31	20	31	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32586779	32586779	+	Missense_Mutation	SNP	G	G	A	rs369090961		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:32586779G>A	ENST00000400237.1	-	5	2052	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	RFPL2_ENST00000248980.4_Missense_Mutation_p.R312C|RFPL2_ENST00000400236.3_Missense_Mutation_p.R283C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.R283C			O75678	RFPL2_HUMAN	ret finger protein-like 2	373							zinc ion binding (GO:0008270)	p.R312C(1)|p.R373C(1)|p.R283C(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCCCAGGACGGACTGGAGCA	0.458																																						uc003amg.3																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1117-1119)CGT>TGT		ret finger protein-like 2 isoform 2		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	4,4368		0,4,2182	76.0	85.0	82.0		1117,847,847,934	-0.6	0.0	22		82	0,8560		0,0,4280	no	missense,missense,missense,missense	RFPL2	NM_001098527.2,NM_001159545.1,NM_001159546.1,NM_006605.3	180,180,180,180	0,4,6462	AA,AG,GG		0.0,0.0915,0.0309	probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/379,283/289,283/289,312/318	32586779	4,12928	2186	4280	6466	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586779G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1117C>T	22.37:g.32586779G>A	ENSP00000383096:p.Arg373Cys					RFPL2_uc003ame.3_Missense_Mutation_p.R312C|RFPL2_uc003amf.3_Missense_Mutation_p.R283C|RFPL2_uc003amh.3_Missense_Mutation_p.R283C	p.R373C	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	2053	-			373						Missense_Mutation	SNP	ENST00000400237.1	37	c.1117C>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	G	8.447	0.852099	0.17034	9.15E-4	0.0	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.56103	0.58;0.59;0.59;0.48	0.582	-0.587	0.11690	.	.	.	.	.	T	0.29256	0.0728	N	0.08118	0	0.09310	N	1	D;P	0.61080	0.989;0.903	B;B	0.44163	0.443;0.398	T	0.17048	-1.0382	8	0.52906	T	0.07	.	.	.	.	.	373;312	O75678;O75678-3	RFPL2_HUMAN;.	C	312;283;283;373	ENSP00000248980:R312C;ENSP00000248983:R283C;ENSP00000383095:R283C;ENSP00000383096:R373C	ENSP00000248980:R312C	R	-	1	0	RFPL2	30916779	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.003000	0.13083	-0.282000	0.09128	0.404000	0.27445	CGT		PASS	0.458	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		41	65	41	65	---	---	---	---
FBXO7	25793	broad.mit.edu	37	22	32894464	32894464	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:32894464C>T	ENST00000266087.7	+	9	1843	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	FBXO7_ENST00000382058.3_Missense_Mutation_p.P427S|FBXO7_ENST00000397426.1_Missense_Mutation_p.P392S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	506	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.P506S(2)|p.P427S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGACAGATTTCCCTTTAGACC	0.512																																						uc003amq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1516-1518)CCC>TCC		F-box only protein 7 isoform 1							40.0	41.0	41.0					22																	32894464		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894464C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1516C>T	22.37:g.32894464C>T	ENSP00000266087:p.Pro506Ser					FBXO7_uc003amr.2_Missense_Mutation_p.P392S|FBXO7_uc003ams.2_Missense_Mutation_p.P350S|FBXO7_uc003amt.2_Missense_Mutation_p.P427S|FBXO7_uc003amu.2_Missense_Mutation_p.P392S|FBXO7_uc003amv.2_Missense_Mutation_p.P205S	p.P506S	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			9	1799	+			506					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1516C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802379	0.70682	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.72835	-0.69;-0.21;-0.16	5.93	5.93	0.95920	.	0.272385	0.37095	N	0.002242	T	0.82075	0.4958	M	0.62723	1.935	0.47341	D	0.999398	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.957;0.993;0.957	T	0.78927	-0.2011	10	0.33940	T	0.23	-10.4384	17.4968	0.87719	0.0:1.0:0.0:0.0	.	506;427;506	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	S	506;427;392	ENSP00000266087:P506S;ENSP00000371490:P427S;ENSP00000380571:P392S	ENSP00000266087:P506S	P	+	1	0	FBXO7	31224464	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.550000	0.53691	2.814000	0.96858	0.655000	0.94253	CCC		PASS	0.512	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			14	36	14	36	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33700276	33700276	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:33700276G>A	ENST00000354992.2	-	13	2240	c.1669C>T	c.(1669-1671)Ccc>Tcc	p.P557S	LARGE_ENST00000402320.1_Missense_Mutation_p.P505S|LARGE_ENST00000452586.2_Missense_Mutation_p.P356S|LARGE_ENST00000397394.2_Missense_Mutation_p.P557S|LARGE_ENST00000337431.2_Missense_Mutation_p.P505S|LARGE_ENST00000437602.2_Missense_Mutation_p.P557S	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	557					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.P557S(1)		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)				AACATGTAGGGAGTGCTGATG	0.572																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1669-1671)CCC>TCC		like-glycosyltransferase							173.0	134.0	147.0					22																	33700276		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.chr22:33700276G>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.1669C>T	22.37:g.33700276G>A	ENSP00000347088:p.Pro557Ser					LARGE_uc011amd.1_Missense_Mutation_p.P356S|LARGE_uc003ane.3_Missense_Mutation_p.P557S|LARGE_uc010gwp.2_Missense_Mutation_p.P505S|LARGE_uc011ame.1_Missense_Mutation_p.P489S|LARGE_uc011amf.1_Missense_Mutation_p.P557S	p.P557S	NM_004737	NP_004728	O95461	LARGE_HUMAN			13	2248	-		Lung NSC(1;0.219)	557			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1669C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423889	0.62733	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.34275	2.04;1.37;2.04;1.37;2.04;1.37	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.46670	1.46	0.80722	D	1	P;B;B;B	0.44195	0.828;0.065;0.128;0.432	P;B;B;B	0.50934	0.654;0.02;0.098;0.26	T	0.25257	-1.0137	10	0.38643	T	0.18	-15.452	19.0114	0.92874	0.0:0.0:1.0:0.0	.	557;356;505;557	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	S	234;234;557;505;557;505;356;557	ENSP00000347088:P557S;ENSP00000336636:P505S;ENSP00000380549:P557S;ENSP00000385223:P505S;ENSP00000407917:P356S;ENSP00000388544:P557S	ENSP00000336636:P505S	P	-	1	0	LARGE	32030276	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.178000	0.94855	2.494000	0.84150	0.557000	0.71058	CCC		PASS	0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		13	62	13	62	---	---	---	---
ISX	91464	broad.mit.edu	37	22	35478585	35478585	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:35478585C>T	ENST00000308700.6	+	2	1256	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	ISX_ENST00000404699.2_Missense_Mutation_p.H102Y	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	102					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.H102Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GAAGATCTTCCACTTTACCCA	0.577																																						uc003anj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(304-306)CAC>TAC		intestine-specific homeobox							141.0	113.0	123.0					22																	35478585		2203	4300	6503	SO:0001583	missense	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478585C>T	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.304C>T	22.37:g.35478585C>T	ENSP00000311492:p.His102Tyr					ISX_uc011amg.1_Missense_Mutation_p.H90Y	p.H102Y	NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN			2	1255	+			102			Homeobox.		Q68DJ5	Missense_Mutation	SNP	ENST00000308700.6	37	c.304C>T	CCDS33640.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968511	0.53614	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.96041	-3.89;-3.89	4.94	4.94	0.65067	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.228617	0.31370	N	0.007780	D	0.96078	0.8722	L	0.60067	1.865	0.39397	D	0.966521	D	0.61080	0.989	P	0.60415	0.874	D	0.96295	0.9217	10	0.87932	D	0	.	11.3749	0.49722	0.0:0.8171:0.1829:0.0	.	102	Q2M1V0	ISX_HUMAN	Y	102	ENSP00000311492:H102Y;ENSP00000386037:H102Y	ENSP00000311492:H102Y	H	+	1	0	ISX	33808585	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	1.615000	0.36922	2.545000	0.85829	0.650000	0.86243	CAC		PASS	0.577	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		25	35	25	35	---	---	---	---
HMOX1	3162	broad.mit.edu	37	22	35783130	35783130	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:35783130G>A	ENST00000216117.8	+	3	936	c.597G>A	c.(595-597)gtG>gtA	p.V199V		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	199					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.V199V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GGCAGAGGGTGATAGAAGAGG	0.607																																						uc003ant.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(595-597)GTG>GTA		heme oxygenase (decyclizing) 1	NADH(DB00157)						53.0	50.0	51.0					22																	35783130		2201	4300	6501	SO:0001819	synonymous_variant	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35783130G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.597G>A	22.37:g.35783130G>A							p.V199V	NM_002133	NP_002124	P09601	HMOX1_HUMAN			3	677	+			199						Silent	SNP	ENST00000216117.8	37	c.597G>A	CCDS13914.1																																																																																				PASS	0.607	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			18	72	18	72	---	---	---	---
RASD2	23551	broad.mit.edu	37	22	35948035	35948035	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:35948035C>T	ENST00000216127.4	+	3	1399	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	253					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R253W(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAAGGTCCTTCGGGAAGGCCA	0.657																																						uc003anx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(757-759)CGG>TGG		RASD family, member 2 precursor							52.0	50.0	51.0					22																	35948035		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35948035C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.757C>T	22.37:g.35948035C>T	ENSP00000216127:p.Arg253Trp					RASD2_uc003any.2_Missense_Mutation_p.R253W	p.R253W	NM_014310	NP_055125	Q96D21	RHES_HUMAN			3	962	+			253					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.757C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319727	0.81469	.	.	ENSG00000100302	ENST00000216127	T	0.71698	-0.59	5.68	3.4	0.38934	.	0.056138	0.85682	D	0.000000	T	0.48607	0.1509	N	0.08118	0	0.45580	D	0.998529	D	0.58620	0.983	B	0.42653	0.394	T	0.56390	-0.7987	10	0.66056	D	0.02	.	9.5448	0.39273	0.2517:0.6415:0.1068:0.0	.	253	Q96D21	RHES_HUMAN	W	253	ENSP00000216127:R253W	ENSP00000216127:R253W	R	+	1	2	RASD2	34277981	0.995000	0.38212	0.967000	0.41034	0.971000	0.66376	2.869000	0.48444	2.705000	0.92388	0.556000	0.70494	CGG		PASS	0.657	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		18	14	18	14	---	---	---	---
APOL5	80831	broad.mit.edu	37	22	36124924	36124924	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:36124924C>T	ENST00000249044.2	+	4	1281	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.A427A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGAGACAGGCCCCGGGAAGAC	0.612																																						uc003aof.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1279-1281)GCC>GCT		apolipoprotein L5							68.0	62.0	64.0					22																	36124924		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124924C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1281C>T	22.37:g.36124924C>T							p.A427A	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			4	1281	+			427					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.1281C>T	CCDS13920.1																																																																																				PASS	0.612	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		15	16	15	16	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37322029	37322029	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:37322029G>A	ENST00000403662.3	+	4	423	c.201G>A	c.(199-201)gaG>gaA	p.E67E	CSF2RB_ENST00000536485.1_Splice_Site_p.R8R|CSF2RB_ENST00000262825.5_Splice_Site_p.E67E|CSF2RB_ENST00000406230.1_Splice_Site_p.E67E			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	67					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E67E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CTCCCAACAGGGACCTCCTGG	0.597																																						uc003aqa.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|pancreas(1)	3						c.(199-201)GAG>GAA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						99.0	76.0	84.0					22																	37322029		2203	4300	6503	SO:0001630	splice_region_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37322029G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.201-1G>A	22.37:g.37322029G>A						CSF2RB_uc003aqc.3_Silent_p.E67E	p.E67E	NM_000395	NP_000386	P32927	IL3RB_HUMAN			4	418	+			67			Extracellular (Potential).		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.201G>A	CCDS13936.1																																																																																				PASS	0.597	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	Silent	6	22	6	22	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37328925	37328925	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:37328925G>A	ENST00000403662.3	+	9	1353	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	CSF2RB_ENST00000536485.1_Silent_p.R324R|CSF2RB_ENST00000262825.5_Silent_p.R383R|CSF2RB_ENST00000406230.1_Silent_p.R383R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	377	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R377R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCAGTACAGGAAAGACACGG	0.557																																						uc003aqa.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1129-1131)AGG>AGA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						113.0	84.0	94.0					22																	37328925		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37328925G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1131G>A	22.37:g.37328925G>A						CSF2RB_uc003aqc.3_Silent_p.R383R	p.R377R	NM_000395	NP_000386	P32927	IL3RB_HUMAN			9	1348	+			377			Extracellular (Potential).|Fibronectin type-III 2.		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1131G>A	CCDS13936.1																																																																																				PASS	0.557	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		18	20	18	20	---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37692055	37692055	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:37692055G>A	ENST00000248901.6	+	4	370	c.183G>A	c.(181-183)aaG>aaA	p.K61K	CYTH4_ENST00000402997.1_Silent_p.K61K|CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Silent_p.K61K	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	61	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.K61K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGGCCCAGAAGGAGAAGGAGC	0.632																																						uc003arf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(181-183)AAG>AAA		cytohesin 4							119.0	86.0	97.0					22																	37692055		2203	4300	6503	SO:0001819	synonymous_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37692055G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.183G>A	22.37:g.37692055G>A						CYTH4_uc003ard.3_Silent_p.K61K|CYTH4_uc003are.2_Silent_p.K61K|CYTH4_uc011amw.1_Silent_p.K4K|CYTH4_uc010gxe.2_Intron	p.K61K	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN			4	299	+			61			Potential.|SEC7.		Q5R3F9|Q9UGT6	Silent	SNP	ENST00000248901.6	37	c.183G>A	CCDS13946.1																																																																																				PASS	0.632	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			4	11	4	11	---	---	---	---
PDXP	57026	broad.mit.edu	37	22	38055295	38055295	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38055295C>T	ENST00000215904.6	+	1	562	c.506C>T	c.(505-507)cCc>cTc	p.P169L	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	169					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.P169L(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CTGCGCGACCCCGAGTGCCTA	0.721																																						uc003atm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(505-507)CCC>CTC		pyridoxal phosphatase	Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						14.0	15.0	15.0					22																	38055295		2077	4127	6204	SO:0001583	missense	57026				actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis	cytosol	heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity	g.chr22:38055295C>T	BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.506C>T	22.37:g.38055295C>T	ENSP00000215904:p.Pro169Leu					SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank	p.P169L	NM_020315	NP_064711	Q96GD0	PLPP_HUMAN			1	559	+	Melanoma(58;0.0574)		169					Q9UGY2	Missense_Mutation	SNP	ENST00000215904.6	37	c.506C>T	CCDS13953.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.477900	0.44044	.	.	ENSG00000241360	ENST00000215904	T	0.30714	1.52	4.69	3.68	0.42216	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.39332	0.1074	M	0.89414	3.03	0.80722	D	1	P	0.45044	0.849	B	0.38921	0.285	T	0.51426	-0.8707	9	0.44086	T	0.13	-11.5554	12.8728	0.57975	0.0:0.9213:0.0:0.0787	.	169	Q96GD0	PLPP_HUMAN	L	169	ENSP00000215904:P169L	ENSP00000215904:P169L	P	+	2	0	PDXP	36385241	0.985000	0.35326	0.986000	0.45419	0.002000	0.02628	2.847000	0.48270	1.206000	0.43276	-0.251000	0.11542	CCC		PASS	0.721	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315		6	3	6	3	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120911	38120911	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38120911C>A	ENST00000406386.3	+	7	2603	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	783					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.P783H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCTCCTCTCCCAATAGAGCC	0.567																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2347-2349)CCC>CAC		TRIO and F-actin binding protein isoform 6							134.0	145.0	141.0					22																	38120911		1981	4157	6138	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120911C>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2348C>A	22.37:g.38120911C>A	ENSP00000384312:p.Pro783His					TRIOBP_uc003atu.2_Missense_Mutation_p.P611H|TRIOBP_uc003atq.1_Missense_Mutation_p.P783H|TRIOBP_uc003ats.1_Missense_Mutation_p.P611H	p.P783H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2619	+	Melanoma(58;0.0574)		783					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2348C>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874985	0.51695	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19806	2.12	3.65	2.62	0.31277	.	.	.	.	.	T	0.31327	0.0793	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.03673	-1.1014	9	0.72032	D	0.01	.	7.0298	0.24960	0.0:0.87:0.0:0.13	.	783	Q9H2D6	TARA_HUMAN	H	783	ENSP00000384312:P783H	ENSP00000384312:P783H	P	+	2	0	TRIOBP	36450857	0.983000	0.35010	0.173000	0.22940	0.046000	0.14306	4.093000	0.57714	0.866000	0.35629	0.460000	0.39030	CCC		PASS	0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	106	5	106	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38122137	38122137	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38122137C>T	ENST00000406386.3	+	7	3829	c.3574C>T	c.(3574-3576)Cct>Tct	p.P1192S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1192					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.P1192S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAGGATCCCCCTGGAACTAG	0.642																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3574-3576)CCT>TCT		TRIO and F-actin binding protein isoform 6							62.0	70.0	67.0					22																	38122137		1961	4147	6108	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38122137C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3574C>T	22.37:g.38122137C>T	ENSP00000384312:p.Pro1192Ser					TRIOBP_uc003atu.2_Missense_Mutation_p.P1020S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1192S|TRIOBP_uc003ats.1_Missense_Mutation_p.P1020S	p.P1192S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3845	+	Melanoma(58;0.0574)		1192					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.3574C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743267	0.69418	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.53206	0.63	5.38	4.35	0.52113	.	.	.	.	.	T	0.40297	0.1111	L	0.29908	0.895	0.80722	D	1	P	0.50066	0.931	P	0.45310	0.476	T	0.34925	-0.9809	9	0.62326	D	0.03	.	11.7022	0.51577	0.1762:0.8237:0.0:0.0	.	1192	Q9H2D6	TARA_HUMAN	S	1192	ENSP00000384312:P1192S	ENSP00000384312:P1192S	P	+	1	0	TRIOBP	36452083	0.331000	0.24713	0.925000	0.36789	0.986000	0.74619	3.016000	0.49607	1.266000	0.44231	0.449000	0.29647	CCT		PASS	0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	48	8	48	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38273863	38273863	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38273863C>T	ENST00000412331.2	+	11	1842	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	EIF3L_ENST00000381683.6_Silent_p.F372F|EIF3L_ENST00000406934.1_Silent_p.F322F	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.F420F(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCAAGTTCCTGTCGCCTG	0.502																																						uc003auf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1258-1260)TTC>TTT		eukaryotic translation initiation factor 3							78.0	67.0	70.0					22																	38273863		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273863C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1260C>T	22.37:g.38273863C>T						EIF3L_uc003aue.1_Silent_p.F420F|EIF3L_uc011ann.1_Silent_p.F372F|EIF3L_uc003aug.2_Silent_p.F312F|EIF3L_uc003auh.2_Silent_p.F153F	p.F420F	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			11	1347	+			420						Silent	SNP	ENST00000412331.2	37	c.1260C>T	CCDS13960.1																																																																																				PASS	0.502	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		22	19	22	19	---	---	---	---
PLA2G6	8398	broad.mit.edu	37	22	38536119	38536119	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38536119G>A	ENST00000332509.3	-	5	850	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.P223S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.P223S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	223					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.P223S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGGTGCAGCGGGGTCAGCCCT	0.587																																						uc003auy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)CCG>TCG		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						52.0	47.0	49.0					22																	38536119		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38536119G>A	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.667C>T	22.37:g.38536119G>A	ENSP00000333142:p.Pro223Ser					PLA2G6_uc003auz.1_Missense_Mutation_p.P223S|PLA2G6_uc003ava.1_Missense_Mutation_p.P223S|PLA2G6_uc003avb.2_Missense_Mutation_p.P223S|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron	p.P223S	NM_003560	NP_003551	O60733	PA2G6_HUMAN			5	803	-	Melanoma(58;0.045)		223			ANK 3.		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.667C>T	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579378	0.65878	.	.	ENSG00000184381	ENST00000332509;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000430886	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.73	5.73	0.89815	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.79343	2.45	0.80722	D	1	P;D	0.76494	0.759;0.999	B;D	0.77004	0.187;0.989	D	0.83896	0.0287	10	0.66056	D	0.02	-45.4216	11.1579	0.48499	0.0701:0.1298:0.8001:0.0	.	223;223	O60733-2;O60733	.;PA2G6_HUMAN	S	223;223;223;151;223;151	ENSP00000333142:P223S;ENSP00000335149:P223S;ENSP00000386100:P223S;ENSP00000395464:P151S	ENSP00000333142:P223S	P	-	1	0	PLA2G6	36866065	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.921000	0.70028	2.716000	0.92895	0.561000	0.74099	CCG		PASS	0.587	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		14	10	14	10	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	39966849	39966850	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:39966849_39966850CC>TT	ENST00000402142.3	+	1	92_93	c.92_93CC>TT	c.(91-93)cCC>cTT	p.P31L	CACNA1I_ENST00000407673.1_Missense_Mutation_p.P31L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P31L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P31L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P31L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P31L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	31					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.P31L(4)|p.P31P(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)	CCCCGGAGCCCCCCATCCTCCC	0.673																																						uc003ayc.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	breast(1)|central_nervous_system(1)	2						c.(91-93)CCC>CTC|c.(91-93)CCC>CCT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)																																			SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966849C>T|g.chr22:39966850C>T	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	Exception_encountered	22.37:g.39966849_39966850delinsTT	ENSP00000385019:p.Pro31Leu					CACNA1I_uc003ayd.2_Missense_Mutation_p.P31L|CACNA1I_uc003ayd.2_Silent_p.P31P	p.P31L|p.P31P	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			1	92|93	+	Melanoma(58;0.0749)		31			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation|Silent	SNP	ENST00000402142.3	37	c.92C>T|c.93C>T	CCDS46710.1																																																																																				PASS	0.673	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		13|14	12|13	13	12	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40819620	40819620	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:40819620G>A	ENST00000355630.3	-	9	1137	c.547C>T	c.(547-549)Cct>Tct	p.P183S	MKL1_ENST00000396617.3_Missense_Mutation_p.P183S|MKL1_ENST00000407029.1_Missense_Mutation_p.P183S|MKL1_ENST00000402042.1_Intron	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	183	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P183S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGTGGGGGAGGCAGAGGAGGC	0.552			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(547-549)CCT>TCT		megakaryoblastic leukemia 1 protein							68.0	62.0	64.0					22																	40819620		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40819620G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.547C>T	22.37:g.40819620G>A	ENSP00000347847:p.Pro183Ser					MKL1_uc003ayw.1_Missense_Mutation_p.P183S|MKL1_uc010gye.1_Missense_Mutation_p.P183S|MKL1_uc010gyf.1_Intron	p.P183S	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			6	754	-			183			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.547C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349489	0.61183	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000407029	T;T;T	0.43294	0.97;0.95;0.97	5.62	5.62	0.85841	.	0.468579	0.21672	N	0.070842	T	0.44498	0.1296	N	0.13235	0.315	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.69307	0.946;0.963	T	0.16335	-1.0406	10	0.07813	T	0.8	-11.6086	17.8352	0.88694	0.0:0.0:1.0:0.0	.	183;183	E7ER32;Q969V6	.;MKL1_HUMAN	S	183	ENSP00000347847:P183S;ENSP00000379861:P183S;ENSP00000385835:P183S	ENSP00000347847:P183S	P	-	1	0	MKL1	39149566	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.894000	0.56250	2.645000	0.89757	0.561000	0.74099	CCT		PASS	0.552	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		5	33	5	33	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40820341	40820341	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:40820341C>T	ENST00000355630.3	-	8	936	c.346G>A	c.(346-348)Gat>Aat	p.D116N	MKL1_ENST00000396617.3_Missense_Mutation_p.D116N|MKL1_ENST00000407029.1_Missense_Mutation_p.D116N|MKL1_ENST00000402042.1_Missense_Mutation_p.D116N	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	116	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D116N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGTCCTCATCGAAGGAAGAG	0.587			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(346-348)GAT>AAT		megakaryoblastic leukemia 1 protein							87.0	71.0	77.0					22																	40820341		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40820341C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.346G>A	22.37:g.40820341C>T	ENSP00000347847:p.Asp116Asn					MKL1_uc003ayw.1_Missense_Mutation_p.D116N|MKL1_uc010gye.1_Missense_Mutation_p.D116N|MKL1_uc010gyf.1_Missense_Mutation_p.D116N	p.D116N	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			5	553	-			116			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.346G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	36	5.636472	0.96693	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.99	D	0.97927	1.0318	10	0.38643	T	0.18	-22.4035	20.0246	0.97519	0.0:1.0:0.0:0.0	.	116;116;116	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	N	116	ENSP00000347847:D116N;ENSP00000379861:D116N;ENSP00000385584:D116N;ENSP00000385835:D116N	ENSP00000347847:D116N	D	-	1	0	MKL1	39150287	1.000000	0.71417	0.888000	0.34837	0.989000	0.77384	7.813000	0.86123	2.750000	0.94351	0.561000	0.74099	GAT		PASS	0.587	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		25	20	25	20	---	---	---	---
MCHR1	2847	broad.mit.edu	37	22	41077494	41077494	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:41077494C>T	ENST00000249016.4	+	2	1527	c.831C>T	c.(829-831)ttC>ttT	p.F277F	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	277					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.F277F(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TCTACTGGTTCACCCTGTACC	0.602																																						uc003ayz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(829-831)TTC>TTT		G protein-coupled receptor 24							114.0	73.0	87.0					22																	41077494		2203	4300	6503	SO:0001819	synonymous_variant	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077494C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.831C>T	22.37:g.41077494C>T						MCHR1_uc003aza.2_Silent_p.F166F	p.F277F	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			2	1099	+			277			Extracellular (Potential).		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.831C>T	CCDS14004.1																																																																																				PASS	0.602	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		34	29	34	29	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41572364	41572364	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:41572364C>T	ENST00000263253.7	+	30	6112	c.4893C>T	c.(4891-4893)ctC>ctT	p.L1631L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1631	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.L1631L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATGCGTTTCTCACGCTGGCAA	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4891-4893)CTC>CTT		E1A binding protein p300							115.0	96.0	103.0					22																	41572364		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572364C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4893C>T	22.37:g.41572364C>T							p.L1631L	NM_001429	NP_001420	Q09472	EP300_HUMAN			30	5288	+			1631			Binding region for E1A adenovirus.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.4893C>T	CCDS14010.1																																																																																				PASS	0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		38	46	38	46	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574204	41574204	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:41574204C>T	ENST00000263253.7	+	31	7708	c.6489C>T	c.(6487-6489)ccC>ccT	p.P2163P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2163	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P2163P(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATGAGCCCCCAGGCTCAGC	0.567			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6487-6489)CCC>CCT		E1A binding protein p300							89.0	71.0	77.0					22																	41574204		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574204C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6489C>T	22.37:g.41574204C>T							p.P2163P	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6884	+			2163			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.6489C>T	CCDS14010.1																																																																																				PASS	0.567	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		30	31	30	31	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42166870	42166870	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:42166870G>A	ENST00000300398.4	+	0	2474				MEI1_ENST00000400107.1_Missense_Mutation_p.D185N|MEI1_ENST00000540880.1_Missense_Mutation_p.D135N|MEI1_ENST00000401548.3_Missense_Mutation_p.D817N					meiosis inhibitor 1									p.D823N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGAACTGGATGATGTCACCTC	0.537																																						uc003baz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2449-2451)GAT>AAT		meiosis defective 1							132.0	128.0	130.0					22																	42166870		2029	4176	6205			150365						binding	g.chr22:42166870G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000300398.4:c.-528G>A	22.37:g.42166870G>A						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D203N|MEI1_uc003bbc.1_Missense_Mutation_p.D185N|MEI1_uc010gym.1_Missense_Mutation_p.D185N|MEI1_uc003bbd.1_Missense_Mutation_p.D60N	p.D817N	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			20	2474	+			817						Missense_Mutation	SNP	ENST00000300398.4	37	c.2449G>A		.	.	.	.	.	.	.	.	.	.	G	5.618	0.298815	0.10622	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000540880	T;T;T	0.45668	1.95;1.93;0.89	5.22	3.04	0.35103	.	0.759661	0.12963	N	0.424826	T	0.29223	0.0727	L	0.31664	0.95	0.22378	N	0.999159	B;B;B;B	0.20671	0.005;0.01;0.047;0.006	B;B;B;B	0.16289	0.004;0.01;0.015;0.01	T	0.18116	-1.0347	10	0.40728	T	0.16	-8.6105	7.798	0.29158	0.0847:0.0:0.7558:0.1595	.	185;60;185;817	Q5TIA1-3;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;MEI1_HUMAN	N	817;185;135	ENSP00000384115:D817N;ENSP00000382978:D185N;ENSP00000437436:D135N	ENSP00000382978:D185N	D	+	1	0	MEI1	40496816	0.009000	0.17119	0.086000	0.20670	0.917000	0.54804	0.441000	0.21611	0.541000	0.28827	0.655000	0.94253	GAT		PASS	0.537	MEI1-201	KNOWN	basic	protein_coding	protein_coding		NM_152513		23	74	23	74	---	---	---	---
SEPT3	55964	broad.mit.edu	37	22	42388703	42388703	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:42388703C>T	ENST00000396426.3	+	8	1056	c.801C>T	c.(799-801)gaC>gaT	p.D267D	SEPT3_ENST00000406029.1_Silent_p.D203D|SEPT3_ENST00000291236.11_Silent_p.D203D|SEPT3_ENST00000396425.3_Silent_p.D267D|SEPT3_ENST00000328414.8_3'UTR	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	267	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.D267D(2)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TGGGAAGTGACAAGGAGTACC	0.522																																						uc003bbr.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(799-801)GAC>GAT		septin 3 isoform A							172.0	129.0	143.0					22																	42388703		2203	4300	6503	SO:0001819	synonymous_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42388703C>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.801C>T	22.37:g.42388703C>T						WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.D267D|SEPT3_uc010gyr.2_Silent_p.D203D|SEPT3_uc011apj.1_Silent_p.D203D|SEPT3_uc010gys.2_Silent_p.D47D	p.D267D	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			8	939	+			267					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	c.801C>T	CCDS14026.2																																																																																				PASS	0.522	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		13	9	13	9	---	---	---	---
FAM109B	150368	broad.mit.edu	37	22	42473757	42473757	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:42473757G>T	ENST00000321753.3	+	3	647	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	154					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)	p.A154S(1)		endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GAAGTCTGTTGCCAGCCGCTG	0.622																																						uc003bbz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)GCC>TCC		hypothetical protein LOC150368							53.0	52.0	52.0					22																	42473757		2203	4300	6503	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473757G>T	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.460G>T	22.37:g.42473757G>T	ENSP00000312753:p.Ala154Ser					C22orf32_uc003bca.2_5'Flank	p.A154S	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN			3	647	+			154					Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.460G>T	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	G	0.407	-0.915098	0.02415	.	.	ENSG00000177096	ENST00000321753	T	0.42131	0.98	4.69	-6.74	0.01743	.	1.445450	0.04296	N	0.346389	T	0.17619	0.0423	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22243	-1.0222	10	0.07030	T	0.85	-0.5483	0.6627	0.00845	0.2613:0.3298:0.1597:0.2493	.	154	Q6ICB4	SESQ2_HUMAN	S	154	ENSP00000312753:A154S	ENSP00000312753:A154S	A	+	1	0	FAM109B	40803703	0.000000	0.05858	0.004000	0.12327	0.099000	0.18886	-0.252000	0.08806	-0.690000	0.05142	0.591000	0.81541	GCC		PASS	0.622	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		5	35	5	35	---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43024195	43024195	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:43024195G>A	ENST00000352397.5	-	5	678	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CYB5R3_ENST00000396303.3_Silent_p.F119F|CYB5R3_ENST00000361740.4_Silent_p.F175F|CYB5R3_ENST00000407623.3_Silent_p.F119F|CYB5R3_ENST00000407332.1_Silent_p.F119F|CYB5R3_ENST00000402438.1_Silent_p.F119F	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	142	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.F119F(1)|p.F175F(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TGGGGCCCCGGAACTCAATGG	0.562																																						uc003bcz.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(424-426)TTC>TTT		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						126.0	127.0	126.0					22																	43024195		2203	4300	6503	SO:0001819	synonymous_variant	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43024195G>A	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.426C>T	22.37:g.43024195G>A						CYB5R3_uc010gzc.1_Silent_p.F16F|CYB5R3_uc003bcw.2_Silent_p.F132F|CYB5R3_uc011aps.1_Silent_p.F175F|CYB5R3_uc003bcy.2_Silent_p.F119F|CYB5R3_uc003bcx.2_Silent_p.F119F	p.F142F	NM_000398	NP_000389	P00387	NB5R3_HUMAN			5	510	-			142			FAD (By similarity).|FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP	ENST00000352397.5	37	c.426C>T	CCDS33658.1																																																																																				PASS	0.562	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			87	70	87	70	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45789578	45789578	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:45789578C>T	ENST00000357450.4	-	9	1480	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	SMC1B_ENST00000404354.3_Missense_Mutation_p.G494E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	494	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.G494E(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGACGTTTTCCCTCATGGGT	0.328																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1480-1482)GGA>GAA		SMC1 structural maintenance of chromosomes							134.0	120.0	124.0					22																	45789578		1848	4100	5948	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45789578C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1481G>A	22.37:g.45789578C>T	ENSP00000350036:p.Gly494Glu					SMC1B_uc003bgd.2_Missense_Mutation_p.G494E|SMC1B_uc003bge.1_Missense_Mutation_p.G277E	p.G494E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1533	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	494			Flexible hinge.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1481G>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176210	0.38413	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85484	-1.99;-1.99	6.16	5.15	0.70609	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.100000	0.44097	D	0.000483	T	0.80742	0.4681	L	0.38531	1.155	0.58432	D	0.999997	B;B;B	0.20459	0.012;0.045;0.016	B;B;B	0.30646	0.03;0.118;0.042	T	0.73849	-0.3853	10	0.28530	T	0.3	.	14.9931	0.71406	0.0:0.9326:0.0:0.0674	.	494;494;494	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	E	494	ENSP00000350036:G494E;ENSP00000385902:G494E	ENSP00000350036:G494E	G	-	2	0	SMC1B	44168242	1.000000	0.71417	0.979000	0.43373	0.870000	0.49936	4.343000	0.59348	2.937000	0.99478	0.650000	0.86243	GGA		PASS	0.328	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		16	26	16	26	---	---	---	---
ATXN10	25814	broad.mit.edu	37	22	46136353	46136353	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:46136353T>C	ENST00000252934.5	+	9	1373	c.1108T>C	c.(1108-1110)Ttt>Ctt	p.F370L	ATXN10_ENST00000381061.4_Missense_Mutation_p.F306L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	370					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.F370L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GGCCAATGGGTTTAAGTCTCA	0.383																																						uc003bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1108-1110)TTT>CTT		ataxin 10							174.0	152.0	159.0					22																	46136353		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46136353T>C	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1108T>C	22.37:g.46136353T>C	ENSP00000252934:p.Phe370Leu					ATXN10_uc011aqt.1_Missense_Mutation_p.F306L|ATXN10_uc003bgn.1_Missense_Mutation_p.F181L	p.F370L	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	9	1365	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	370					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.1108T>C	CCDS14070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.953079|3.953079	0.73902|0.73902	.|.	.|.	ENSG00000130638|ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026|ENST00000451241	T;T;T|.	0.42900|.	0.96;0.96;1.06|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-like helical (1);Armadillo-type fold (1);Ataxin-10 domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60366|0.60366	0.2263|0.2263	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;D|.	0.69078|.	0.941;0.997|.	P;D|.	0.71656|.	0.77;0.974|.	T|T	0.56768|0.56768	-0.7924|-0.7924	10|5	0.21014|.	T|.	0.42|.	1.9495|1.9495	15.5474|15.5474	0.76118|0.76118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	306;370|.	A6NLC4;Q9UBB4|.	.;ATX10_HUMAN|.	L|A	306;370;373;122|69	ENSP00000370449:F306L;ENSP00000252934:F370L;ENSP00000391117:F122L|.	ENSP00000252934:F370L|.	F|V	+|+	1|2	0|0	ATXN10|ATXN10	44515017|44515017	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.409000|0.409000	0.31022|0.31022	4.144000|4.144000	0.58057|0.58057	2.274000|2.274000	0.75844|0.75844	0.533000|0.533000	0.62120|0.62120	TTT|GTT		PASS	0.383	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		15	52	15	52	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46656603	46656603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:46656603G>A	ENST00000253255.5	-	1	2616	c.2617C>T	c.(2617-2619)Cag>Tag	p.Q873*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	873	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.Q873*(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGAAGAGCTGGTTGATACCC	0.408																																						uc003bhh.2																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(2)	5						c.(2617-2619)CAG>TAG		receptor for egg jelly-like protein precursor							72.0	72.0	72.0					22																	46656603		2203	4300	6503	SO:0001587	stop_gained	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656603G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2617C>T	22.37:g.46656603G>A	ENSP00000253255:p.Gln873*						p.Q873*	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2617	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	873			Extracellular (Potential).|REJ.		B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	c.2617C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281240	0.95489	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.16	-4.79	0.03200	.	1.373440	0.04605	N	0.399202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5556	9.6731	0.40023	0.0:0.4195:0.1328:0.4477	.	.	.	.	X	873	.	ENSP00000253255:Q873X	Q	-	1	0	PKDREJ	45035267	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.754000	0.04787	-0.657000	0.05373	-0.182000	0.12963	CAG		PASS	0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		22	36	22	36	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46708110	46708110	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:46708110C>T	ENST00000454366.1	+	5	1047	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	260					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.L279F(1)|p.L260F(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCGGGATGTTCTCCCTGACAA	0.537																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(835-837)CTC>TTC		G-2 and S-phase expressed 1							50.0	54.0	53.0					22																	46708110		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46708110C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.835C>T	22.37:g.46708110C>T	ENSP00000415430:p.Leu279Phe					GTSE1_uc011aqz.1_Missense_Mutation_p.L126F	p.L279F	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	5	1047	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	260					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.835C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.898097	0.33535	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10288	2.89	5.03	2.94	0.34122	.	0.645684	0.16541	N	0.209935	T	0.13841	0.0335	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.58331	0.837	T	0.16482	-1.0401	10	0.22109	T	0.4	-0.2169	9.492	0.38965	0.0:0.8398:0.0:0.1602	.	260	Q9NYZ3	GTSE1_HUMAN	F	279;239	ENSP00000415430:L279F	ENSP00000354634:L239F	L	+	1	0	GTSE1	45086774	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.210000	0.17455	0.776000	0.33473	0.650000	0.86243	CTC		PASS	0.537	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		13	29	13	29	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46725379	46725379	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:46725379C>T	ENST00000454366.1	+	11	2263	c.2051C>T	c.(2050-2052)tCt>tTt	p.S684F		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	665					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.S684F(1)|p.S665F(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCTGTAGGATCTGAAAGCAGG	0.542																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2050-2052)TCT>TTT		G-2 and S-phase expressed 1							146.0	132.0	137.0					22																	46725379		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725379C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2051C>T	22.37:g.46725379C>T	ENSP00000415430:p.Ser684Phe					GTSE1_uc011aqz.1_Missense_Mutation_p.S531F|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	p.S684F	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2263	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	665					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.2051C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836514	0.50951	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08896	3.04	4.91	3.89	0.44902	.	0.768230	0.12559	N	0.458378	T	0.23249	0.0562	M	0.66939	2.045	0.09310	N	1	D	0.64830	0.994	D	0.64321	0.924	T	0.04635	-1.0937	10	0.72032	D	0.01	-2.7103	9.3731	0.38266	0.0:0.8998:0.0:0.1002	.	665	Q9NYZ3	GTSE1_HUMAN	F	684;644	ENSP00000415430:S684F	ENSP00000354634:S644F	S	+	2	0	GTSE1	45104043	0.024000	0.19004	0.035000	0.18076	0.046000	0.14306	1.224000	0.32539	1.181000	0.42912	0.655000	0.94253	TCT		PASS	0.542	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		72	62	72	62	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46930004	46930004	+	Missense_Mutation	SNP	G	G	A	rs372128480		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:46930004G>A	ENST00000262738.3	-	1	3063	c.3064C>T	c.(3064-3066)Cgt>Tgt	p.R1022C	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1022C|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1022	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.R1022C(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGTTAGCACGAATCTTTGCC	0.517																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(3064-3066)CGT>TGT		cadherin EGF LAG seven-pass G-type receptor 1		G	CYS/ARG	0,4406		0,0,2203	93.0	92.0	92.0		3064	2.9	0.0	22		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR1	NM_014246.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1022/3015	46930004	1,13005	2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930004G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3064C>T	22.37:g.46930004G>A	ENSP00000262738:p.Arg1022Cys						p.R1022C	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3064	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1022			Extracellular (Potential).|Cadherin 8.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3064C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	9.875	1.200124	0.22121	0.0	1.16E-4	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.53423	0.62;0.62	3.99	2.94	0.34122	Cadherin (4);Cadherin-like (1);	0.341475	0.18906	U	0.127891	T	0.54663	0.1872	L	0.51914	1.62	0.37283	D	0.907902	D	0.63046	0.992	P	0.59595	0.86	T	0.57118	-0.7866	10	0.39692	T	0.17	.	10.1886	0.43013	0.0:0.0:0.4246:0.5754	.	1022	Q9NYQ6	CELR1_HUMAN	C	1022	ENSP00000262738:R1022C;ENSP00000379293:R1022C	ENSP00000262738:R1022C	R	-	1	0	CELSR1	45308668	0.851000	0.29673	0.006000	0.13384	0.075000	0.17131	1.849000	0.39318	0.832000	0.34804	0.462000	0.41574	CGT		PASS	0.517	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		19	33	19	33	---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47033853	47033853	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:47033853C>T	ENST00000406902.1	+	3	492	c.279C>T	c.(277-279)ttC>ttT	p.F93F	GRAMD4_ENST00000490378.1_3'UTR|GRAMD4_ENST00000361034.3_Silent_p.F93F			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	93					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.F93F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAAAACATTTCTTACGTGAGT	0.517																																						uc003bhx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(277-279)TTC>TTT		death-inducing-protein							110.0	110.0	110.0					22																	47033853		2203	4300	6503	SO:0001819	synonymous_variant	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47033853C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.279C>T	22.37:g.47033853C>T						GRAMD4_uc010had.2_Silent_p.F32F	p.F93F	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	2	318	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	93			Potential.		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	c.279C>T	CCDS33672.1																																																																																				PASS	0.517	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		16	66	16	66	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50278157	50278157	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:50278157G>A	ENST00000216268.5	+	2	1324	c.847G>A	c.(847-849)Ggg>Agg	p.G283R		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	283						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G283R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCACCTCTGGGTCCAGGAG	0.572																																						uc003bix.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(847-849)GGG>AGG		zinc finger, BED-type containing 4							89.0	93.0	92.0					22																	50278157		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278157G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.847G>A	22.37:g.50278157G>A	ENSP00000216268:p.Gly283Arg						p.G283R	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1317	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	283					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.847G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586386	0.46110	.	.	ENSG00000100426	ENST00000216268	T	0.47528	0.84	5.41	5.41	0.78517	.	0.240902	0.33610	N	0.004725	T	0.58779	0.2146	L	0.29908	0.895	0.53688	D	0.999979	D	0.76494	0.999	D	0.66716	0.946	T	0.61342	-0.7082	10	0.87932	D	0	-28.8631	19.3865	0.94557	0.0:0.0:1.0:0.0	.	283	O75132	ZBED4_HUMAN	R	283	ENSP00000216268:G283R	ENSP00000216268:G283R	G	+	1	0	ZBED4	48664161	1.000000	0.71417	0.196000	0.23383	0.013000	0.08279	6.718000	0.74713	2.818000	0.97014	0.650000	0.86243	GGG		PASS	0.572	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		58	53	58	53	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50893807	50893807	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:50893807G>A	ENST00000390679.3	-	32	4506	c.4322C>T	c.(4321-4323)cCc>cTc	p.P1441L	SBF1_ENST00000348911.6_Missense_Mutation_p.P1442L|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.P1467L			O95248	MTMR5_HUMAN	SET binding factor 1	1441	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P1441L(1)|p.P1467L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGTAGAAGGGGTCTGAGAG	0.687																																						uc003blh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4399-4401)CCC>CTC		SET binding factor 1							37.0	47.0	43.0					22																	50893807		2196	4286	6482	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893807G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4322C>T	22.37:g.50893807G>A	ENSP00000375097:p.Pro1441Leu					SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.P1105L	p.P1467L	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4595	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1441			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4400C>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.653772	0.88056	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.95272	-3.66;-3.66;-3.66	4.12	4.12	0.48240	Myotubularin phosphatase domain (1);	0.121281	0.56097	D	0.000025	D	0.98353	0.9453	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99701	1.1004	10	0.87932	D	0	.	16.5077	0.84277	0.0:0.0:1.0:0.0	.	1441;1467	O95248;O95248-4	MTMR5_HUMAN;.	L	1467;1442;1477;1441	ENSP00000370196:P1467L;ENSP00000252027:P1442L;ENSP00000375097:P1441L	ENSP00000336522:P1477L	P	-	2	0	SBF1	49240673	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.370000	0.97159	2.294000	0.77228	0.563000	0.77884	CCC		PASS	0.687	SBF1-201	KNOWN	basic	protein_coding	protein_coding				25	26	25	26	---	---	---	---
NCAPH2	29781	broad.mit.edu	37	22	50956661	50956662	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:50956661_50956662CC>TT	ENST00000420993.2	+	7	722_723	c.600_601CC>TT	c.(598-603)tcCCcc>tcTTcc	p.P201S	NCAPH2_ENST00000299821.11_Missense_Mutation_p.P201S|NCAPH2_ENST00000395701.3_Missense_Mutation_p.P201S|NCAPH2_ENST00000395698.3_Missense_Mutation_p.P201S	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	201					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.P201S(4)|p.S200S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGGGCATGTCCCCCATGGAACC	0.644																																						uc003blr.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|skin(1)	2						c.(598-600)TCC>TCT|c.(601-603)CCC>TCC		kleisin beta isoform 2																																				SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956661C>T|g.chr22:50956662C>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	Exception_encountered	22.37:g.50956661_50956662delinsTT	ENSP00000410088:p.Pro201Ser					NCAPH2_uc003blq.3_Silent_p.S200S|NCAPH2_uc003blv.2_Silent_p.S200S|NCAPH2_uc010hbb.2_Silent_p.S51S|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Silent_p.S200S|NCAPH2_uc003bly.3_RNA|NCAPH2_uc003blq.3_Missense_Mutation_p.P201S|NCAPH2_uc003blv.2_Missense_Mutation_p.P201S|NCAPH2_uc010hbb.2_Missense_Mutation_p.P52S|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P201S|NCAPH2_uc003bly.3_RNA	p.S200S|p.P201S	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	722|723	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	200|201					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Silent|Missense_Mutation	SNP	ENST00000420993.2	37	c.600C>T|c.601C>T	CCDS14094.2																																																																																				PASS	0.644	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		24|35	24|13	24	13	---	---	---	---
ARSA	410	broad.mit.edu	37	22	51065164	51065164	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:51065164C>T	ENST00000547307.1	-	4	1108	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	ARSA_ENST00000216124.5_Missense_Mutation_p.G237R|ARSA_ENST00000356098.5_Missense_Mutation_p.G237R|ARSA_ENST00000453344.2_Missense_Mutation_p.G151R|ARSA_ENST00000395619.3_Missense_Mutation_p.G237R|ARSA_ENST00000395621.3_Missense_Mutation_p.G237R|ARSA_ENST00000547805.1_Missense_Mutation_p.G235R			P15289	ARSA_HUMAN	arylsulfatase A	235					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)	p.G235R(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	AAGCTCTGCCCACTGAACTGA	0.617																																						uc003bnb.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(703-705)GGG>AGG		arylsulfatase A isoform a precursor	Micafungin(DB01141)						57.0	64.0	62.0					22																	51065164		2203	4300	6503	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065164C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.703G>A	22.37:g.51065164C>T	ENSP00000448440:p.Gly235Arg					ARSA_uc003bna.3_Missense_Mutation_p.G151R|ARSA_uc003bnc.3_Missense_Mutation_p.G235R|ARSA_uc003bnd.3_Missense_Mutation_p.G235R|ARSA_uc003bmz.3_Missense_Mutation_p.G235R|ARSA_uc010hbf.2_3'UTR	p.G235R	NM_001085426	NP_001078895	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	956	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	235					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.703G>A		.	.	.	.	.	.	.	.	.	.	C	19.34	3.809027	0.70797	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.38	5.38	0.77491	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.241563	0.49305	D	0.000142	D	0.93963	0.8067	N	0.25060	0.705	0.49389	D	0.999787	D	0.76494	0.999	D	0.76575	0.988	D	0.93498	0.6842	10	0.56958	D	0.05	.	10.1268	0.42654	0.0:0.909:0.0:0.091	.	235	P15289	ARSA_HUMAN	R	237;237;235;235;237;151;237	ENSP00000348406:G237R;ENSP00000216124:G237R;ENSP00000448440:G235R;ENSP00000448932:G235R;ENSP00000378983:G237R;ENSP00000412542:G151R;ENSP00000378981:G237R	ENSP00000216124:G237R	G	-	1	0	ARSA	49412030	0.969000	0.33509	0.806000	0.32338	0.923000	0.55619	2.407000	0.44565	2.538000	0.85594	0.511000	0.50034	GGG		PASS	0.617	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		16	51	16	51	---	---	---	---
PLCXD1	55344	broad.mit.edu	37	X	215781	215782	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:215781_215782GG>AA	ENST00000381657.2	+	7	1265_1266	c.751_752GG>AA	c.(751-753)GGc>AAc	p.G251N	PLCXD1_ENST00000381663.3_Missense_Mutation_p.G251N|PLCXD1_ENST00000399012.1_Missense_Mutation_p.G251N	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	251					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)	p.G251S(1)|p.G251N(1)|p.G251D(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTTCGTGGCCGGCATCAACCTC	0.619																																						uc004cpc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(751-753)GGC>AGC|c.(751-753)GGC>GAC		phosphatidylinositol-specific phospholipase C, X																																				SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215781G>A|g.chrX:215782G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	Exception_encountered	X.37:g.215781_215782delinsAA	ENSP00000371073:p.Gly251Asn					PLCXD1_uc011mgx.1_RNA	p.G251S|p.G251D	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			7	1063|1064	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	251					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.751G>A|c.752G>A	CCDS14103.1																																																																																				PASS	0.619	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		14|15	13|12	14	12	---	---	---	---
CRLF2	64109	broad.mit.edu	37	X	1321372	1321372	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:1321372G>A	ENST00000381567.3	-	4	382	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CRLF2_ENST00000381566.1_Missense_Mutation_p.S128L|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	128	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S128L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGATGCCACGAAAATCTCAC	0.547			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	uc004cpm.1				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	Mis|T	cytokine receptor-like factor 2			L	P2RY8|IGH@		B-ALL|Downs associated ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(7)	7								Homo sapiens mRNA for IL-XR, complete cds.							255.0	271.0	266.0					X																	1321372		2081	4205	6286	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1321372G>A	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.383C>T	X.37:g.1321372G>A	ENSP00000370979:p.Ser128Leu									Q9HC73	CRLF2_HUMAN			4		-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)						Q9H5R3	RNA	SNP	ENST00000381567.3	37	c.383C>T		.	.	.	.	.	.	.	.	.	.	g	0.018	-1.474367	0.01044	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	T;T;T	0.70164	-0.46;-0.46;-0.46	2.11	-4.23	0.03789	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.411290	0.04631	N	0.403679	T	0.38214	0.1032	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.17715	-1.0360	9	0.10636	T	0.68	-0.0031	1.3575	0.02185	0.1753:0.168:0.4253:0.2313	.	128	Q9HC73	CRLF2_HUMAN	L	128	ENSP00000370979:S128L;ENSP00000383641:S128L;ENSP00000370978:S128L	ENSP00000370978:S128L	S	-	2	0	CRLF2	1281372	0.054000	0.20591	0.001000	0.08648	0.004000	0.04260	-0.533000	0.06157	-1.951000	0.01029	-0.967000	0.02615	TCG		PASS	0.547	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		59	122	59	122	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1531735	1531735	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:1531735C>A	ENST00000381317.3	-	12	1567	c.1535G>T	c.(1534-1536)aGg>aTg	p.R512M	ASMTL_ENST00000534940.1_Missense_Mutation_p.R454M|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.R496M|ASMTL_ENST00000416733.2_Missense_Mutation_p.R436M	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	512	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.L119M(1)|p.R512M(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGGGGTCCCTGAAAAAGTC	0.582																																						uc004cpx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1534-1536)AGG>ATG		acetylserotonin O-methyltransferase-like							115.0	128.0	124.0					X																	1531735		1976	4143	6119	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1531735C>A	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1535G>T	X.37:g.1531735C>A	ENSP00000370718:p.Arg512Met					NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Missense_Mutation_p.R436M|ASMTL_uc004cpy.1_Missense_Mutation_p.R496M|ASMTL_uc011mhf.1_Missense_Mutation_p.R454M	p.R512M	NM_004192	NP_004183	O95671	ASML_HUMAN			12	1646	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	512			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.1535G>T	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	N	7.902	0.734529	0.15574	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	1.43	1.43	0.22495	O-methyltransferase, family 2 (1);	0.788155	0.10862	U	0.625962	T	0.16041	0.0386	N	0.20685	0.6	0.09310	N	1	D;P;P	0.54601	0.967;0.624;0.879	P;B;P	0.48571	0.559;0.328;0.582	T	0.14643	-1.0465	10	0.66056	D	0.02	.	3.8673	0.09021	0.0:0.1475:0.2087:0.6438	.	436;496;512	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	M	436;454;496;512	ENSP00000410578:R436M;ENSP00000446410:R454M;ENSP00000370734:R496M;ENSP00000370718:R512M	ENSP00000370718:R512M	R	-	2	0	ASMTL	1491735	0.926000	0.31397	0.200000	0.23457	0.000000	0.00434	0.345000	0.19979	-0.439000	0.07222	-0.000000	0.15137	AGG		PASS	0.582	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		5	94	5	94	---	---	---	---
ASMTL	8623	broad.mit.edu	37	X	1536906	1536906	+	Silent	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:1536906T>C	ENST00000381317.3	-	11	1514	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	ASMTL_ENST00000534940.1_Silent_p.Q436Q|ASMTL_ENST00000381333.4_Silent_p.Q478Q|ASMTL_ENST00000416733.2_Silent_p.Q418Q	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	494	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.Q494Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCGGGGGGTTGGAAGTGGG	0.602																																						uc004cpx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1480-1482)CAA>CAG		acetylserotonin O-methyltransferase-like							117.0	147.0	137.0					X																	1536906		2118	4201	6319	SO:0001819	synonymous_variant	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1536906T>C	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1482A>G	X.37:g.1536906T>C						ASMTL_uc011mhe.1_Silent_p.Q418Q|ASMTL_uc004cpy.1_Silent_p.Q478Q|ASMTL_uc011mhf.1_Silent_p.Q436Q	p.Q494Q	NM_004192	NP_004183	O95671	ASML_HUMAN			11	1593	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	494			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.1482A>G	CCDS43917.1																																																																																				PASS	0.602	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		10	27	10	27	---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408485	2408485	+	Silent	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:2408485G>T	ENST00000381223.4	-	2	479	c.276C>A	c.(274-276)acC>acA	p.T92T	ZBED1_ENST00000381218.3_Silent_p.T92T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.T92T|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	92					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.T92T(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAGAAGGCGGTGGCGAAGG	0.632																																						uc004cqg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)ACC>ACA		zinc finger, BED-type containing 1							145.0	133.0	137.0					X																	2408485		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408485G>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.276C>A	X.37:g.2408485G>T						DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T92T	p.T92T	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	477	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	92					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.276C>A	CCDS14118.1																																																																																				PASS	0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		4	55	4	55	---	---	---	---
ZBED1	9189	broad.mit.edu	37	X	2408626	2408626	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:2408626G>A	ENST00000381223.4	-	2	338	c.135C>T	c.(133-135)atC>atT	p.I45I	ZBED1_ENST00000381218.3_Silent_p.I45I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I45I|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	45					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.I45I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCGGCAGTAGATTTTCTTCC	0.582																																						uc004cqg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)ATC>ATT		zinc finger, BED-type containing 1							214.0	193.0	200.0					X																	2408626		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408626G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.135C>T	X.37:g.2408626G>A						DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.I45I	p.I45I	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	336	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	45			BED-type.		Q96BY4	Silent	SNP	ENST00000381223.4	37	c.135C>T	CCDS14118.1																																																																																				PASS	0.582	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		28	44	28	44	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3021844	3021844	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:3021844C>T	ENST00000381127.1	+	9	1365	c.1144C>T	c.(1144-1146)Cca>Tca	p.P382S	ARSF_ENST00000537104.1_Missense_Mutation_p.P382S|ARSF_ENST00000359361.2_Missense_Mutation_p.P382S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	382					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P382S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AATCCGCGTCCCAGGAATTGT	0.448																																						uc004cre.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1144-1146)CCA>TCA		arylsulfatase F precursor							96.0	85.0	89.0					X																	3021844		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3021844C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1144C>T	X.37:g.3021844C>T	ENSP00000370519:p.Pro382Ser					ARSF_uc004crf.1_Missense_Mutation_p.P382S	p.P382S	NM_004042	NP_004033	P54793	ARSF_HUMAN			9	1365	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	382					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.1144C>T	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636625	0.47049	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.99701	-6.45;-6.45;-6.45	3.53	3.53	0.40419	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99819	0.9920	H	0.97465	4.01	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.96758	0.9559	10	0.87932	D	0	.	14.4629	0.67465	0.0:1.0:0.0:0.0	.	382	P54793	ARSF_HUMAN	S	382	ENSP00000370519:P382S;ENSP00000445594:P382S;ENSP00000352319:P382S	ENSP00000352319:P382S	P	+	1	0	ARSF	3031844	1.000000	0.71417	0.024000	0.17045	0.085000	0.17905	6.265000	0.72534	1.374000	0.46228	0.411000	0.27672	CCA		PASS	0.448	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			15	4	15	4	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811208	5811208	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:5811208C>T	ENST00000381095.3	-	6	2728	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D701N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D721N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D701N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D701N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	701					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.D701N(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGCCTCTTGTCCTTTTTGTAG	0.507																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2101-2103)GAC>AAC		X-linked neuroligin 4 precursor							106.0	94.0	98.0					X																	5811208		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811208C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2101G>A	X.37:g.5811208C>T	ENSP00000370485:p.Asp701Asn					NLGN4X_uc004crp.2_Missense_Mutation_p.D721N|NLGN4X_uc004crq.2_Missense_Mutation_p.D701N|NLGN4X_uc010ndi.2_Missense_Mutation_p.D738N|NLGN4X_uc004crr.2_Missense_Mutation_p.D701N|NLGN4X_uc010ndj.2_Missense_Mutation_p.D701N	p.D701N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2602	-			701			Cytoplasmic (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2101G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782434	0.70222	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	3.81	3.81	0.43845	.	0.000000	0.36854	N	0.002368	D	0.89438	0.6715	M	0.69358	2.11	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.994;0.997	D	0.90720	0.4634	10	0.87932	D	0	.	14.2039	0.65721	0.0:1.0:0.0:0.0	.	758;701;721	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	701;721;701;701;701	ENSP00000370485:D701N;ENSP00000370483:D721N;ENSP00000275857:D701N;ENSP00000370482:D701N;ENSP00000439203:D701N	ENSP00000275857:D701N	D	-	1	0	NLGN4X	5821208	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	6.722000	0.74735	1.503000	0.48686	0.506000	0.49869	GAC		PASS	0.507	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		19	13	19	13	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14625263	14625263	+	Silent	SNP	G	G	A	rs113271440		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:14625263G>A	ENST00000218075.4	+	6	1118	c.588G>A	c.(586-588)acG>acA	p.T196T	GLRA2_ENST00000355020.4_Silent_p.T196T|GLRA2_ENST00000443437.2_Silent_p.T107T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	196					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.T196T(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TTGGGTACACGATGAATGACC	0.388													G|||	2	0.000529801	0.0015	0.0	3775	,	,		13916	0.0		0.0	False		,,,				2504	0.0					uc010nep.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(586-588)ACG>ACA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						148.0	134.0	139.0					X																	14625263		2203	4300	6503	SO:0001819	synonymous_variant	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14625263G>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.588G>A	X.37:g.14625263G>A						GLRA2_uc010neq.2_Silent_p.T196T|GLRA2_uc004cwe.3_Silent_p.T196T|GLRA2_uc011mio.1_Silent_p.T107T|GLRA2_uc011mip.1_Silent_p.T174T	p.T196T	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			7	920	+	Hepatocellular(33;0.128)		196			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	c.588G>A	CCDS14160.1																																																																																				PASS	0.388	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			35	15	35	15	---	---	---	---
MOSPD2	158747	broad.mit.edu	37	X	14933878	14933878	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:14933878C>T	ENST00000380492.3	+	12	1266	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	MOSPD2_ENST00000482354.1_Missense_Mutation_p.P393L|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	393	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.P393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GTTGTGTCTCCCCATGGGGGT	0.517																																						uc004cwi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1177-1179)CCC>CTC		motile sperm domain containing 2							87.0	87.0	87.0					X																	14933878		2203	4300	6503	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14933878C>T	AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1178C>T	X.37:g.14933878C>T	ENSP00000369860:p.Pro393Leu					MOSPD2_uc004cwj.2_Missense_Mutation_p.P330L	p.P393L	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN			12	1266	+	Hepatocellular(33;0.183)		393			MSP.		Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.1178C>T	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601587	0.13939	.	.	ENSG00000130150	ENST00000380492	T	0.69175	-0.38	6.03	4.02	0.46733	PapD-like (2);	0.115725	0.56097	D	0.000023	T	0.13200	0.0320	N	0.00010	-3.025	0.44234	D	0.99707	B	0.15930	0.015	B	0.20384	0.029	T	0.40534	-0.9558	10	0.02654	T	1	.	1.7985	0.03066	0.3078:0.4023:0.0:0.2899	.	393	Q8NHP6	MSPD2_HUMAN	L	393	ENSP00000369860:P393L	ENSP00000369860:P393L	P	+	2	0	MOSPD2	14843799	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.782000	0.68973	1.282000	0.44496	0.600000	0.82982	CCC		PASS	0.517	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		52	20	52	20	---	---	---	---
FIGF	2277	broad.mit.edu	37	X	15364280	15364280	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:15364280C>T	ENST00000297904.3	-	7	1469	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	347					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.G347E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GCTGTGGGGCCCCTGGGCAGC	0.498																																						uc004cwt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1039-1041)GGG>GAG		vascular endothelial growth factor D							97.0	92.0	94.0					X																	15364280		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15364280C>T	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.1040G>A	X.37:g.15364280C>T	ENSP00000297904:p.Gly347Glu						p.G347E	NM_004469	NP_004460	O43915	VEGFD_HUMAN			7	1549	-	Hepatocellular(33;0.183)		347					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.1040G>A	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333172	0.41297	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.54	4.68	0.58851	.	0.671285	0.14392	N	0.322455	T	0.42720	0.1215	L	0.44542	1.39	0.09310	N	0.999997	B	0.22541	0.071	B	0.20184	0.028	T	0.40251	-0.9573	9	0.72032	D	0.01	-10.6045	12.7667	0.57396	0.0:0.9191:0.0:0.0809	.	347	O43915	VEGFD_HUMAN	E	347	.	ENSP00000297904:G347E	G	-	2	0	FIGF	15274201	0.955000	0.32602	0.083000	0.20561	0.311000	0.27955	2.660000	0.46749	1.214000	0.43395	0.600000	0.82982	GGG		PASS	0.498	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		37	19	37	19	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21549974	21549974	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:21549974G>A	ENST00000379510.3	+	11	1128	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	CNKSR2_ENST00000543067.1_Splice_Site_p.R315R|CNKSR2_ENST00000425654.2_Splice_Site_p.R364R|CNKSR2_ENST00000279451.4_Splice_Site_p.R364R|CNKSR2_ENST00000485012.1_3'UTR	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	364	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.R364R(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTTTCTTTAGGGATGAAAAAG	0.393																																						uc004czx.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1090-1092)AGG>AGA		connector enhancer of kinase suppressor of Ras							61.0	59.0	60.0					X																	21549974		2201	4295	6496	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21549974G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1092-1G>A	X.37:g.21549974G>A						CNKSR2_uc004czw.2_Silent_p.R364R|CNKSR2_uc011mjn.1_Silent_p.R315R|CNKSR2_uc011mjo.1_Silent_p.R364R|CNKSR2_uc004czy.2_5'UTR	p.R364R	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			11	1128	+			364			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.1092G>A	CCDS14198.1																																																																																				PASS	0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Silent	7	9	7	9	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23398342	23398342	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:23398342T>C	ENST00000379361.4	+	2	1846	c.986T>C	c.(985-987)tTc>tCc	p.F329S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	329	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.F224S(1)|p.F329S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AATTCCACCTTCCTGGGAGTC	0.502																																						uc004dal.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(985-987)TTC>TCC		patched domain containing 1							105.0	100.0	102.0					X																	23398342		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398342T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.986T>C	X.37:g.23398342T>C	ENSP00000368666:p.Phe329Ser					PTCHD1_uc010nfu.1_Missense_Mutation_p.F329S	p.F329S	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	994	+			329			Helical; (Potential).|SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.986T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480142	0.44044	.	.	ENSG00000165186	ENST00000379361	D	0.90324	-2.65	5.16	5.16	0.70880	Sterol-sensing domain (1);	0.053190	0.85682	D	0.000000	D	0.88396	0.6425	N	0.19112	0.55	0.40191	D	0.977408	P;B	0.50443	0.935;0.0	P;B	0.53313	0.723;0.002	D	0.88832	0.3306	10	0.39692	T	0.17	.	14.3117	0.66419	0.0:0.0:0.0:1.0	.	224;329	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	S	329	ENSP00000368666:F329S	ENSP00000368666:F329S	F	+	2	0	PTCHD1	23308263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	2.025000	0.59659	0.486000	0.48141	TTC		PASS	0.502	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		32	23	32	23	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24741283	24741283	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:24741283C>T	ENST00000379059.3	+	11	1096	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	POLA1_ENST00000379068.3_Silent_p.L367L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	361					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.L361L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGTGGTATTTCTGTTTGGGAA	0.393																																						uc004dbl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1081-1083)CTG>TTG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						205.0	188.0	194.0					X																	24741283		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24741283C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1081C>T	X.37:g.24741283C>T						POLA1_uc004dbm.2_Silent_p.L367L|POLA1_uc004dbn.2_Silent_p.L225L	p.L361L	NM_016937	NP_058633	P09884	DPOLA_HUMAN			11	1104	+			361					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1081C>T	CCDS14214.1																																																																																				PASS	0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		28	23	28	23	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157987	26157987	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:26157987C>T	ENST00000325250.1	+	2	1072	c.885C>T	c.(883-885)gtC>gtT	p.V295V		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	295	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.V295V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATGATACCGTCCCTAGTGCCT	0.522																																						uc004dbq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(883-885)GTC>GTT		melanoma antigen family B, 18							80.0	52.0	61.0					X																	26157987		2202	4300	6502	SO:0001819	synonymous_variant	286514						protein binding	g.chrX:26157987C>T	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.885C>T	X.37:g.26157987C>T							p.V295V	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	1072	+			295			MAGE.			Silent	SNP	ENST00000325250.1	37	c.885C>T	CCDS14216.1																																																																																				PASS	0.522	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		15	8	15	8	---	---	---	---
CXorf21	80231	broad.mit.edu	37	X	30578032	30578032	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:30578032C>T	ENST00000378962.3	-	3	763	c.441G>A	c.(439-441)gaG>gaA	p.E147E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	147								p.E147E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAAAACTGCTCTCAGAGGGAA	0.423																																						uc004dcg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)GAG>GAA		hypothetical protein LOC80231							56.0	56.0	56.0					X																	30578032		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30578032C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.441G>A	X.37:g.30578032C>T							p.E147E	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	717	-			147						Silent	SNP	ENST00000378962.3	37	c.441G>A	CCDS14224.1																																																																																				PASS	0.423	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		16	10	16	10	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31893359	31893360	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:31893359_31893360CC>TT	ENST00000357033.4	-	48	7249_7250	c.7043_7044GG>AA	c.(7042-7044)aGG>aAA	p.R2348K	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.R2344K|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2348			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R2348K(2)|p.R1007K(2)|p.R2343K(2)|p.R2344K(2)|p.R2343R(1)|p.R1007R(1)|p.R2348R(1)|p.R2344R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAACTGATTCCTAATAGGAGA	0.342																																						uc004dda.1																			12	Substitution - Missense(8)|Substitution - coding silent(4)		lung(12)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7042-7044)AGG>AGA|c.(7042-7044)AGG>AAG		dystrophin Dp427m isoform																																				SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31893359C>T|g.chrX:31893360C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7043_7044delinsTT	X.37:g.31893359_31893360delinsTT	ENSP00000354923:p.Arg2348Lys					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.R1004R|DMD_uc004dcx.2_Silent_p.R1007R|DMD_uc004dcz.2_Silent_p.R2225R|DMD_uc004dcy.1_Silent_p.R2344R|DMD_uc004ddb.1_Silent_p.R2340R|DMD_uc010ngn.1_RNA|DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R1004K|DMD_uc004dcx.2_Missense_Mutation_p.R1007K|DMD_uc004dcz.2_Missense_Mutation_p.R2225K|DMD_uc004dcy.1_Missense_Mutation_p.R2344K|DMD_uc004ddb.1_Missense_Mutation_p.R2340K|DMD_uc010ngn.1_RNA	p.R2348R|p.R2348K	NM_004006	NP_003997	P11532	DMD_HUMAN			48	7288|7287	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2348		Missing (in DMD).			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent|Missense_Mutation	SNP	ENST00000357033.4	37	c.7044G>A|c.7043G>A	CCDS14233.1																																																																																				PASS	0.342	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		4	2|3	4	2	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31893406	31893406	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:31893406G>A	ENST00000357033.4	-	48	7203	c.6997C>T	c.(6997-6999)Ctt>Ttt	p.L2333F	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.L2329F|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2333			Missing (in DMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L2333F(1)|p.L2328F(1)|p.L2329F(1)|p.L992F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCTCTTCAAGGTCTTCAAGC	0.378																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6997-6999)CTT>TTT		dystrophin Dp427m isoform							81.0	64.0	70.0					X																	31893406		2201	4299	6500	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31893406G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6997C>T	X.37:g.31893406G>A	ENSP00000354923:p.Leu2333Phe					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.L989F|DMD_uc004dcx.2_Missense_Mutation_p.L992F|DMD_uc004dcz.2_Missense_Mutation_p.L2210F|DMD_uc004dcy.1_Missense_Mutation_p.L2329F|DMD_uc004ddb.1_Missense_Mutation_p.L2325F|DMD_uc010ngn.1_RNA	p.L2333F	NM_004006	NP_003997	P11532	DMD_HUMAN			48	7241	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2333		Missing (in DMD).			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6997C>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-1.995467|-1.995467	0.00435|0.00435	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.42131|.	2.02;0.98;0.98|.	0.694|0.694	-0.214|-0.214	0.13161|0.13161	.|.	0.243608|.	0.20488|.	N|.	0.091346|.	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.04508|0.04508	-0.205|-0.205	0.22066|0.22066	N|N	0.99938|0.99938	B;B;B;B;B|.	0.26876|.	0.01;0.162;0.04;0.0;0.0|.	B;B;B;B;B|.	0.17098|.	0.006;0.017;0.015;0.001;0.0|.	T|T	0.27400|0.27400	-1.0075|-1.0075	9|4	0.30854|.	T|.	0.27|.	.|.	.|.	.|.	.|.	.|.	2325;2333;2329;992;989|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	F|L	2325;992;989;29;2329;2333;2333;2210|61	ENSP00000350765:L29F;ENSP00000367948:L2329F;ENSP00000354923:L2333F|.	ENSP00000354923:L2333F|.	L|P	-|-	1|2	0|0	DMD|DMD	31803327|31803327	0.928000|0.928000	0.31464|0.31464	0.151000|0.151000	0.22473|0.22473	0.450000|0.450000	0.32258|0.32258	-0.371000|-0.371000	0.07513|0.07513	-0.193000|-0.193000	0.10415|0.10415	-0.190000|-0.190000	0.12839|0.12839	CTT|CCT		PASS	0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	3	6	3	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32404508	32404508	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:32404508C>T	ENST00000357033.4	-	33	4799	c.4593G>A	c.(4591-4593)caG>caA	p.Q1531Q	DMD_ENST00000378677.2_Silent_p.Q1527Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1531	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q1527Q(1)|p.Q1526Q(1)|p.Q1531Q(1)|p.Q190Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGCTTTTTCTGTACAATCT	0.373																																						uc004dda.1																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4591-4593)CAG>CAA		dystrophin Dp427m isoform							210.0	177.0	188.0					X																	32404508		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404508C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4593G>A	X.37:g.32404508C>T						DMD_uc004dcw.2_Silent_p.Q187Q|DMD_uc004dcx.2_Silent_p.Q190Q|DMD_uc004dcz.2_Silent_p.Q1408Q|DMD_uc004dcy.1_Silent_p.Q1527Q|DMD_uc004ddb.1_Silent_p.Q1523Q|DMD_uc010ngo.1_Intron	p.Q1531Q	NM_004006	NP_003997	P11532	DMD_HUMAN			33	4837	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1531			Spectrin 10.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.4593G>A	CCDS14233.1																																																																																				PASS	0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		37	16	37	16	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32429976	32429976	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:32429976C>T	ENST00000357033.4	-	30	4332	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	DMD_ENST00000378677.2_Missense_Mutation_p.E1372K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1376					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E35K(1)|p.E1376K(1)|p.E1371K(1)|p.E1372K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGGATTTTTCAGTCTCCTGG	0.433																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4126-4128)GAA>AAA		dystrophin Dp427m isoform							110.0	88.0	95.0					X																	32429976		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429976C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4126G>A	X.37:g.32429976C>T	ENSP00000354923:p.Glu1376Lys					DMD_uc004dcw.2_Missense_Mutation_p.E32K|DMD_uc004dcx.2_Missense_Mutation_p.E35K|DMD_uc004dcz.2_Missense_Mutation_p.E1253K|DMD_uc004dcy.1_Missense_Mutation_p.E1372K|DMD_uc004ddb.1_Missense_Mutation_p.E1368K|DMD_uc010ngo.1_Intron	p.E1376K	NM_004006	NP_003997	P11532	DMD_HUMAN			30	4370	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1376					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4126G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279803	0.59758	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.18502	2.21;2.21	5.68	5.68	0.88126	.	0.204155	0.23139	U	0.051488	T	0.15869	0.0382	L	0.32530	0.975	0.80722	D	1	B;P;B;B;B	0.44429	0.275;0.835;0.18;0.319;0.319	B;B;B;B;B	0.38500	0.088;0.275;0.04;0.055;0.034	T	0.03296	-1.1051	10	0.28530	T	0.3	.	18.7838	0.91946	0.0:1.0:0.0:0.0	.	1368;1376;1372;35;32	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1368;35;32;1372;1376;1376;1253	ENSP00000367948:E1372K;ENSP00000354923:E1376K	ENSP00000354923:E1376K	E	-	1	0	DMD	32339897	1.000000	0.71417	0.942000	0.38095	0.812000	0.45895	6.345000	0.72995	2.381000	0.81170	0.506000	0.49869	GAA		PASS	0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		11	9	11	9	---	---	---	---
MAGEB16	139604	broad.mit.edu	37	X	35820350	35820350	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:35820350G>A	ENST00000399989.1	+	2	316	c.37G>A	c.(37-39)Gat>Aat	p.D13N	MAGEB16_ENST00000399985.1_Missense_Mutation_p.D13N|MAGEB16_ENST00000399987.1_Missense_Mutation_p.D13N|MAGEB16_ENST00000399988.1_Missense_Mutation_p.D13N|MAGEB16_ENST00000399992.1_Missense_Mutation_p.D45N	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	13								p.D180N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGCACACATGATCAGCACCT	0.557																																						uc010ngt.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(37-39)GAT>AAT		melanoma antigen family B, 16							51.0	53.0	52.0					X																	35820350		2118	4213	6331	SO:0001583	missense	139604							g.chrX:35820350G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.37G>A	X.37:g.35820350G>A	ENSP00000382871:p.Asp13Asn						p.D13N	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	316	+			13					A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.37G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306483	0.23736	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	3.02	1.09	0.20402	Melanoma associated antigen, MAGE, N-terminal (1);	1.596260	0.03353	N	0.196453	T	0.04227	0.0117	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.21360	0.034	T	0.42430	-0.9452	10	0.72032	D	0.01	.	3.296	0.06966	0.1493:0.0:0.5977:0.253	.	13	A2A368	MAGBG_HUMAN	N	13;45;13;13;13	ENSP00000382870:D13N;ENSP00000382874:D45N;ENSP00000382869:D13N;ENSP00000382871:D13N;ENSP00000382867:D13N	ENSP00000382867:D13N	D	+	1	0	MAGEB16	35730271	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.333000	0.19768	0.166000	0.19597	0.521000	0.50471	GAT		PASS	0.557	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			16	14	16	14	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37029130	37029130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:37029130C>T	ENST00000358047.3	+	1	2699	c.2647C>T	c.(2647-2649)Caa>Taa	p.Q883*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	883								p.Q883*(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCAACCTATCAAGACCAAAA	0.453																																						uc004ddl.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(2647-2649)CAA>TAA		hypothetical protein LOC442444							118.0	112.0	114.0					X																	37029130		2202	4300	6502	SO:0001587	stop_gained	442444							g.chrX:37029130C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2647C>T	X.37:g.37029130C>T	ENSP00000367913:p.Gln883*						p.Q883*	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2661	+			883					Q6ZU46	Nonsense_Mutation	SNP	ENST00000358047.3	37	c.2647C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462553	0.63513	.	.	ENSG00000198173	ENST00000358047	.	.	.	0.829	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	.	.	.	.	.	.	.	X	883	.	ENSP00000367913:Q883X	Q	+	1	0	FAM47C	36939051	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-1.828000	0.01702	-1.151000	0.02836	-0.769000	0.03391	CAA		PASS	0.453	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		49	19	49	19	---	---	---	---
EFHC2	80258	broad.mit.edu	37	X	44091790	44091790	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:44091790G>A	ENST00000420999.1	-	10	1640	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	519	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.Y519Y(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						AACGAAATAGGTAACCATTCA	0.388																																						uc004dgb.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)	6						c.(1555-1557)TAC>TAT		EF-hand domain (C-terminal) containing 2							98.0	89.0	92.0					X																	44091790		2014	4170	6184	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44091790G>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1557C>T	X.37:g.44091790G>A							p.Y519Y	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			11	1647	-			519			DM10 3.		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.1557C>T	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	3.933	-0.015731	0.07681	.	.	ENSG00000183690	ENST00000441230	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	T	0.76033	0.3931	.	.	.	0.44985	D	0.998004	.	.	.	.	.	.	T	0.74429	-0.3668	4	.	.	.	-6.0426	19.1454	0.93463	0.0:0.0:1.0:0.0	.	.	.	.	S	500	.	.	P	-	1	0	EFHC2	43976734	0.993000	0.37304	0.893000	0.35052	0.780000	0.44128	2.337000	0.43947	2.472000	0.83506	0.600000	0.82982	CCT		PASS	0.388	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		4	1	4	1	---	---	---	---
DUSP21	63904	broad.mit.edu	37	X	44703484	44703484	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:44703484G>T	ENST00000339042.4	+	1	236	c.106G>T	c.(106-108)Gcc>Tcc	p.A36S		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	36	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A36S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CAATGGTGTGGCCGCCAACGA	0.517																																						uc004dgd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(106-108)GCC>TCC		dual specificity phosphatase 21							125.0	95.0	105.0					X																	44703484		2203	4300	6503	SO:0001583	missense	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703484G>T	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.106G>T	X.37:g.44703484G>T	ENSP00000343244:p.Ala36Ser						p.A36S	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	236	+			36			Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	ENST00000339042.4	37	c.106G>T	CCDS14264.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.005436	0.74932	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.85258	-1.96	3.82	3.82	0.43975	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.158900	0.56097	D	0.000030	D	0.87892	0.6292	L	0.52206	1.635	0.32644	N	0.52027	D	0.71674	0.998	D	0.76071	0.987	D	0.85667	0.1292	10	0.14656	T	0.56	.	12.7418	0.57257	0.0:0.0:1.0:0.0	.	36	Q9H596	DUS21_HUMAN	S	36	ENSP00000343244:A36S	ENSP00000343244:A36S	A	+	1	0	DUSP21	44588428	0.939000	0.31865	0.004000	0.12327	0.022000	0.10575	5.064000	0.64338	2.163000	0.67991	0.597000	0.82753	GCC		PASS	0.517	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		4	29	4	29	---	---	---	---
ZNF630	57232	broad.mit.edu	37	X	47918009	47918009	+	Missense_Mutation	SNP	A	A	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:47918009A>T	ENST00000409324.3	-	5	2048	c.1822T>A	c.(1822-1824)Ttt>Att	p.F608I	ZNF630_ENST00000276054.4_Missense_Mutation_p.F484I|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.F594I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	608					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.F608I(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTCCAGAAAAAAGTCATTCCA	0.443																																						uc004div.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1822-1824)TTT>ATT		zinc finger protein 630							90.0	76.0	81.0					X																	47918009		2193	4289	6482	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918009A>T	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1822T>A	X.37:g.47918009A>T	ENSP00000386393:p.Phe608Ile					ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.F484I	p.F608I	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			5	2074	-			608			C2H2-type 13; degenerate.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.1822T>A	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561436	0.27915	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.39787	1.06;1.06;1.06	2.48	2.48	0.30137	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71400	0.3335	H	0.96430	3.82	0.21719	N	0.999574	D	0.76494	0.999	D	0.77004	0.989	T	0.60141	-0.7321	9	0.87932	D	0	.	7.9553	0.30038	1.0:0.0:0.0:0.0	.	608	Q2M218	ZN630_HUMAN	I	594;484;608	ENSP00000393163:F594I;ENSP00000354683:F484I;ENSP00000386393:F608I	ENSP00000354683:F484I	F	-	1	0	ZNF630	47802953	0.989000	0.36119	0.006000	0.13384	0.010000	0.07245	3.531000	0.53546	1.031000	0.39867	0.441000	0.28932	TTT		PASS	0.443	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		14	14	14	14	---	---	---	---
XAGE5	170627	broad.mit.edu	37	X	52841655	52841655	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:52841655C>T	ENST00000375501.1	+	1	65	c.65C>T	c.(64-66)cCt>cTt	p.P22L	XAGE5_ENST00000425386.1_Missense_Mutation_p.P22L|XAGE5_ENST00000351072.1_Missense_Mutation_p.P22L|XAGE5_ENST00000375503.3_Missense_Mutation_p.P22L			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	22								p.P22L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						CTGGTTGGGCCTATGCTTGTG	0.393																																						uc004drd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)CCT>CTT		X antigen family, member 5							206.0	164.0	178.0					X																	52841655		2203	4300	6503	SO:0001583	missense	170627							g.chrX:52841655C>T	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.65C>T	X.37:g.52841655C>T	ENSP00000364651:p.Pro22Leu						p.P22L	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			2	130	+			22					Q5JS81	Missense_Mutation	SNP	ENST00000375501.1	37	c.65C>T	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	c	9.780	1.174945	0.21704	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375503;ENST00000375501	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	0.809	-0.296	0.12824	.	.	.	.	.	T	0.14570	0.0352	M	0.72353	2.195	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.28681	-1.0036	8	0.51188	T	0.08	.	.	.	.	.	22	Q8WWM1	GAGD5_HUMAN	L	22	ENSP00000342240:P22L;ENSP00000392864:P22L;ENSP00000364653:P22L;ENSP00000364651:P22L	ENSP00000342240:P22L	P	+	2	0	XAGE5	52858380	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-0.027000	0.12371	-0.172000	0.10779	0.468000	0.43344	CCT		PASS	0.393	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		25	10	25	10	---	---	---	---
SMC1A	8243	broad.mit.edu	37	X	53439105	53439105	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:53439105G>A	ENST00000322213.4	-	6	1080	c.953C>T	c.(952-954)tCt>tTt	p.S318F	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	318					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.S318F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTCTGCAGAGACTTCTTGGC	0.498																																						uc004dsg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(952-954)TCT>TTT		structural maintenance of chromosomes 1A							119.0	91.0	101.0					X																	53439105		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439105G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.953C>T	X.37:g.53439105G>A	ENSP00000323421:p.Ser318Phe					SMC1A_uc011moe.1_Missense_Mutation_p.S296F|SMC1A_uc011mof.1_Intron	p.S318F	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			6	1022	-			318			Potential.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.953C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537528	0.65085	.	.	ENSG00000072501	ENST00000322213	T	0.78595	-1.19	4.65	4.65	0.58169	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.66939	2.045	0.80722	D	1	P;D	0.71674	0.613;0.998	B;D	0.68621	0.358;0.959	D	0.87937	0.2714	10	0.72032	D	0.01	.	15.7658	0.78126	0.0:0.0:1.0:0.0	.	296;318	Q6MZR8;Q14683	.;SMC1A_HUMAN	F	318	ENSP00000323421:S318F	ENSP00000323421:S318F	S	-	2	0	SMC1A	53455830	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.734000	0.84928	2.053000	0.61076	0.600000	0.82982	TCT		PASS	0.498	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		7	12	7	12	---	---	---	---
PFKFB1	5207	broad.mit.edu	37	X	54971969	54971969	+	Missense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:54971969C>A	ENST00000375006.3	-	10	1071	c.1001G>T	c.(1000-1002)tGt>tTt	p.C334F	PFKFB1_ENST00000545676.1_Missense_Mutation_p.C269F|PFKFB1_ENST00000374992.2_Missense_Mutation_p.C134F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	334	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.C334F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CATCTCCTCACAGACACCCTG	0.428																																						uc004dty.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1000-1002)TGT>TTT		6-phosphofructo-2-kinase/fructose-2,							110.0	86.0	94.0					X																	54971969		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54971969C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1001G>T	X.37:g.54971969C>A	ENSP00000364145:p.Cys334Phe					PFKFB1_uc010nkd.1_Missense_Mutation_p.C142F|PFKFB1_uc011mol.1_Missense_Mutation_p.C269F	p.C334F	NM_002625	NP_002616	P16118	F261_HUMAN			10	1072	-			334			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1001G>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174999	0.78564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T;T;T	0.70986	-0.53;-0.53;-0.53	4.93	4.93	0.64822	Histidine phosphatase superfamily, clade-1 (2);	0.091253	0.85682	D	0.000000	T	0.80193	0.4578	L	0.56124	1.755	0.80722	D	1	D;D;D	0.76494	0.999;0.973;0.993	D;P;D	0.70487	0.969;0.817;0.915	T	0.79205	-0.1899	10	0.37606	T	0.19	-13.3953	16.3472	0.83146	0.0:1.0:0.0:0.0	.	269;134;334	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	F	334;269;134	ENSP00000364145:C334F;ENSP00000444074:C269F;ENSP00000364131:C134F	ENSP00000364131:C134F	C	-	2	0	PFKFB1	54988694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.712000	0.84684	2.201000	0.70794	0.556000	0.70494	TGT		PASS	0.428	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			8	3	8	3	---	---	---	---
ASB12	142689	broad.mit.edu	37	X	63444242	63444242	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:63444242C>T	ENST00000396130.2	-	2	902	c.903G>A	c.(901-903)ttG>ttA	p.L301L	MTMR8_ENST00000453546.1_Silent_p.L685L|ASB12_ENST00000362002.2_Silent_p.L310L			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	301	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.L685L(1)|p.L310L(1)|p.L301L(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GGTAGCTAATCAACATGGGAG	0.522																																						uc011mou.1																			5	Substitution - coding silent(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(2053-2055)TTG>TTA		myotubularin related protein 8							153.0	114.0	127.0					X																	63444242		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444242C>T	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.903G>A	X.37:g.63444242C>T						ASB12_uc004dvp.1_Silent_p.L301L|ASB12_uc004dvq.1_Silent_p.L310L|ASB12_uc004dvr.1_Silent_p.L310L	p.L685L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			11	2123	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.2055G>A																																																																																					PASS	0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				24	10	24	10	---	---	---	---
P2RY4	5030	broad.mit.edu	37	X	69478397	69478397	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:69478397G>A	ENST00000374519.2	-	1	1257	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	360					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.P360S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						TCTGCCCTAGGAGTAGAGCAG	0.602																																						uc004dxz.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1078-1080)CCT>TCT		pyrimidinergic receptor P2Y4							50.0	51.0	51.0					X																	69478397		2199	4296	6495	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478397G>A	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.1078C>T	X.37:g.69478397G>A	ENSP00000363643:p.Pro360Ser						p.P360S	NM_002565	NP_002556	P51582	P2RY4_HUMAN			1	1258	-			360	Missing: Abolishes agonist-induced phosphorylation. Prevents agonist-induced desensitization and loss of cell surface receptors.|Missing: No functional effect.|Missing: No effect on agonist-induced phosphorylation, no functional effect.		Cytoplasmic (Potential).		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.1078C>T	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.774957	0.02951	.	.	ENSG00000186912	ENST00000374519	T	0.70749	-0.51	4.37	0.483	0.16820	.	1.747070	0.03799	N	0.264198	T	0.47544	0.1451	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	10	0.08179	T	0.78	.	7.166	0.25691	0.4209:0.0:0.5791:0.0	.	360	P51582	P2RY4_HUMAN	S	360	ENSP00000363643:P360S	ENSP00000363643:P360S	P	-	1	0	P2RY4	69395122	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.002000	0.13061	-0.144000	0.11314	0.589000	0.80489	CCT		PASS	0.602	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565		14	5	14	5	---	---	---	---
CDX4	1046	broad.mit.edu	37	X	72667453	72667453	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:72667453G>A	ENST00000373514.2	+	1	364	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	122					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G122R(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGTGGGCGGTGGAACTAGCGG	0.677																																						uc011mqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GGA>AGA		caudal type homeobox 4							20.0	20.0	20.0					X																	72667453		2202	4298	6500	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667453G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.364G>A	X.37:g.72667453G>A	ENSP00000362613:p.Gly122Arg						p.G122R	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	364	+	Renal(35;0.156)		122					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.364G>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	6.128	0.391806	0.11581	.	.	ENSG00000131264	ENST00000373514	D	0.93953	-3.32	2.32	2.32	0.28847	Caudal-like activation domain (1);	0.206152	0.24120	N	0.041369	D	0.92737	0.7691	L	0.58810	1.83	0.18873	N	0.999986	P	0.45634	0.863	P	0.54210	0.745	D	0.84350	0.0532	10	0.15499	T	0.54	-3.8492	10.0073	0.41964	0.0:0.0:1.0:0.0	.	122	O14627	CDX4_HUMAN	R	122	ENSP00000362613:G122R	ENSP00000362613:G122R	G	+	1	0	CDX4	72584178	1.000000	0.71417	0.013000	0.15412	0.004000	0.04260	0.938000	0.28965	1.458000	0.47871	0.432000	0.28606	GGA		PASS	0.677	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		4	3	4	3	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73961213	73961213	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:73961213G>A	ENST00000055682.6	-	3	3790	c.3179C>T	c.(3178-3180)cCt>cTt	p.P1060L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1060					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P1060L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAATTTGTCAGGGGTGAAGTT	0.502																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3178-3180)CCT>CTT		hypothetical protein LOC340533							81.0	77.0	78.0					X																	73961213		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961213G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3179C>T	X.37:g.73961213G>A	ENSP00000055682:p.Pro1060Leu						p.P1060L	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3796	-			1060					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3179C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173706	0.78452	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.61274	0.12;0.12	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72541	-0.4262	10	0.87932	D	0	-8.854	18.0301	0.89281	0.0:0.0:1.0:0.0	.	1060	Q5QGS0	K2022_HUMAN	L	1060	ENSP00000362567:P1060L;ENSP00000055682:P1060L	ENSP00000055682:P1060L	P	-	2	0	KIAA2022	73877938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.192000	0.70111	0.600000	0.82982	CCT		PASS	0.502	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		23	13	23	13	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73962755	73962755	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:73962755T>A	ENST00000055682.6	-	3	2248	c.1637A>T	c.(1636-1638)aAt>aTt	p.N546I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	546					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.N546I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAAAGCGATTAATGATGAT	0.408																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(1636-1638)AAT>ATT		hypothetical protein LOC340533							102.0	89.0	94.0					X																	73962755		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962755T>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1637A>T	X.37:g.73962755T>A	ENSP00000055682:p.Asn546Ile						p.N546I	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2254	-			546					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1637A>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300334	0.60195	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.62364	0.03;0.03	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80271	-0.1452	10	0.87932	D	0	-19.3456	15.1785	0.72934	0.0:0.0:0.0:1.0	.	546	Q5QGS0	K2022_HUMAN	I	546	ENSP00000362567:N546I;ENSP00000055682:N546I	ENSP00000055682:N546I	N	-	2	0	KIAA2022	73879480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.968000	0.57251	0.486000	0.48141	AAT		PASS	0.408	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	15	18	15	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74644526	74644526	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:74644526A>C	ENST00000373367.3	-	8	927	c.697T>G	c.(697-699)Tac>Gac	p.Y233D	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.Y224D	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	233					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Y233D(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CAACAATGGTAACCAAAGAGA	0.393																																						uc004ecg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(697-699)TAC>GAC		zinc finger, DHHC-type containing 15 isoform 1							88.0	69.0	75.0					X																	74644526		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644526A>C	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.697T>G	X.37:g.74644526A>C	ENSP00000362465:p.Tyr233Asp					ZDHHC15_uc004ech.2_Missense_Mutation_p.Y224D|ZDHHC15_uc011mqo.1_RNA	p.Y233D	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			8	1175	-			233					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.697T>G	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398701	0.83120	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.24350	1.86;1.86	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64956	-0.6285	10	0.87932	D	0	-18.5395	14.2924	0.66289	1.0:0.0:0.0:0.0	.	224;233	B3KVG7;Q96MV8	.;ZDH15_HUMAN	D	233;224	ENSP00000362465:Y233D;ENSP00000445420:Y224D	ENSP00000362465:Y233D	Y	-	1	0	ZDHHC15	74561251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.669000	0.91163	1.973000	0.57446	0.486000	0.48141	TAC		PASS	0.393	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		13	6	13	6	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77271290	77271290	+	Missense_Mutation	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:77271290T>A	ENST00000341514.6	+	12	2693	c.2538T>A	c.(2536-2538)gaT>gaA	p.D846E	ATP7A_ENST00000343533.5_Missense_Mutation_p.D768E|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	846					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.D846E(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AACGTGGAGATATCATTAAAG	0.403																																						uc004ecx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2536-2538)GAT>GAA		ATPase, Cu++ transporting, alpha polypeptide							205.0	188.0	193.0					X																	77271290		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77271290T>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2538T>A	X.37:g.77271290T>A	ENSP00000345728:p.Asp846Glu						p.D846E	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			12	2698	+			846			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2538T>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750263	0.69533	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.97430	-4.38;-4.38	5.32	2.25	0.28309	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.96133	0.9094	10	0.87932	D	0	-4.8551	7.4098	0.27011	0.0:0.6055:0.0:0.3945	.	846	Q04656	ATP7A_HUMAN	E	768;846	ENSP00000343026:D768E;ENSP00000345728:D846E	ENSP00000345728:D846E	D	+	3	2	ATP7A	77157946	0.965000	0.33210	0.999000	0.59377	0.879000	0.50718	0.136000	0.15974	0.111000	0.17947	-0.684000	0.03749	GAT		PASS	0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		36	24	36	24	---	---	---	---
LPAR4	2846	broad.mit.edu	37	X	78011400	78011400	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:78011400C>T	ENST00000435339.3	+	2	1420	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	345					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.S345F(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACAAAGCCTTCCCTTCCAGCT	0.408																																						uc010nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1033-1035)TCC>TTC		lysophosphatidic acid receptor 4							126.0	114.0	118.0					X																	78011400		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011400C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.1034C>T	X.37:g.78011400C>T	ENSP00000408205:p.Ser345Phe						p.S345F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1439	+			345			Cytoplasmic (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.1034C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303004	0.23736	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.72282	-0.64;-0.64	4.47	3.6	0.41247	.	0.323197	0.24769	N	0.035745	T	0.47948	0.1473	N	0.08118	0	0.31726	N	0.637613	B	0.09022	0.002	B	0.04013	0.001	T	0.48559	-0.9025	10	0.29301	T	0.29	.	10.3708	0.44053	0.0:0.9001:0.0:0.0999	.	345	Q99677	LPAR4_HUMAN	F	345	ENSP00000408205:S345F;ENSP00000362398:S345F	ENSP00000362398:S345F	S	+	2	0	LPAR4	77898056	0.834000	0.29399	1.000000	0.80357	0.921000	0.55340	1.674000	0.37544	0.888000	0.36160	0.422000	0.28245	TCC		PASS	0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		35	19	35	19	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79279581	79279581	+	Missense_Mutation	SNP	C	C	T	rs145161769		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:79279581C>T	ENST00000373294.5	+	3	404	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TBX22_ENST00000373291.1_Missense_Mutation_p.R6W|TBX22_ENST00000373296.3_Missense_Mutation_p.R126W|TBX22_ENST00000442340.1_Missense_Mutation_p.R6W	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	126					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R126W(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCCCTCTGTTCGGGTCAAGGT	0.488																																						uc010nmg.1																			2	Substitution - Missense(2)	p.R126W(1)	lung(1)|skin(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(376-378)CGG>TGG		T-box 22 isoform 1							140.0	113.0	122.0					X																	79279581		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279581C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.376C>T	X.37:g.79279581C>T	ENSP00000362390:p.Arg126Trp					TBX22_uc004edi.1_Missense_Mutation_p.R6W|TBX22_uc004edj.1_Missense_Mutation_p.R126W	p.R126W	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			4	510	+			126			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.376C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138372	0.77775	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.71	3.84	0.44239	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.95592	0.8567	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95626	0.8685	10	0.87932	D	0	.	12.1855	0.54236	0.1722:0.8278:0.0:0.0	.	126	Q9Y458	TBX22_HUMAN	W	126;6;126;6	ENSP00000362393:R126W;ENSP00000396394:R6W;ENSP00000362390:R126W;ENSP00000362388:R6W	ENSP00000362388:R6W	R	+	1	2	TBX22	79166237	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.124000	0.31320	0.772000	0.33382	0.594000	0.82650	CGG		PASS	0.488	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		26	12	26	12	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79286288	79286288	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:79286288C>T	ENST00000373294.5	+	8	1269	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TBX22_ENST00000373291.1_Missense_Mutation_p.S294F|TBX22_ENST00000373296.3_Missense_Mutation_p.S414F|TBX22_ENST00000442340.1_Missense_Mutation_p.S294F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	414					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S414F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTATGTTATCTTCCCTGGGG	0.438																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1240-1242)TCT>TTT		T-box 22 isoform 1							143.0	139.0	141.0					X																	79286288		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286288C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1241C>T	X.37:g.79286288C>T	ENSP00000362390:p.Ser414Phe					TBX22_uc004edi.1_Missense_Mutation_p.S294F|TBX22_uc004edj.1_Missense_Mutation_p.S414F	p.S414F	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1375	+			414					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1241C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416010	0.25552	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	3.83	2.95	0.34219	.	5.302060	0.00166	N	0.000014	D	0.90841	0.7123	M	0.64997	1.995	0.39488	D	0.967997	D	0.76494	0.999	D	0.85130	0.997	T	0.75645	-0.3246	10	0.87932	D	0	.	11.2008	0.48741	0.0:0.8165:0.1835:0.0	.	414	Q9Y458	TBX22_HUMAN	F	414;294;414;294	ENSP00000362393:S414F;ENSP00000396394:S294F;ENSP00000362390:S414F;ENSP00000362388:S294F	ENSP00000362388:S294F	S	+	2	0	TBX22	79172944	1.000000	0.71417	0.251000	0.24312	0.062000	0.15995	3.060000	0.49955	0.622000	0.30249	0.513000	0.50165	TCT		PASS	0.438	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		40	25	40	25	---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99945580	99945580	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:99945580G>A	ENST00000372989.1	-	9	1028	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	SYTL4_ENST00000263033.5_Missense_Mutation_p.P233S|SYTL4_ENST00000454200.2_Missense_Mutation_p.P234S|SYTL4_ENST00000455616.1_Missense_Mutation_p.P233S|SYTL4_ENST00000372981.1_Missense_Mutation_p.P233S|SYTL4_ENST00000276141.6_Missense_Mutation_p.P233S	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	233					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P233S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAGATTTGGGAGCAGACATC	0.463																																						uc004egd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(697-699)CCC>TCC		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141.0	120.0	127.0					X																	99945580		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99945580G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.697C>T	X.37:g.99945580G>A	ENSP00000362080:p.Pro233Ser					SYTL4_uc010nnb.2_5'UTR|SYTL4_uc010nnc.2_Missense_Mutation_p.P233S|SYTL4_uc004ege.3_Missense_Mutation_p.P233S|SYTL4_uc004egf.3_Missense_Mutation_p.P233S|SYTL4_uc004egg.3_Missense_Mutation_p.P233S	p.P233S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			9	1053	-			233					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.697C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.199836	0.38905	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.67345	1.94;1.94;1.94;1.94;1.94;-0.26	5.0	5.0	0.66597	.	0.452396	0.25994	N	0.026983	T	0.66187	0.2764	L	0.53249	1.67	0.33885	D	0.636642	P;B	0.44627	0.839;0.04	P;B	0.45913	0.497;0.015	T	0.75326	-0.3357	9	.	.	.	-6.767	13.2279	0.59924	0.0:0.0:1.0:0.0	.	233;233	Q96C24-2;Q96C24	.;SYTL4_HUMAN	S	233;233;234;233;233;233	ENSP00000362080:P233S;ENSP00000390252:P233S;ENSP00000403556:P234S;ENSP00000276141:P233S;ENSP00000263033:P233S;ENSP00000362072:P233S	.	P	-	1	0	SYTL4	99832236	1.000000	0.71417	0.852000	0.33557	0.942000	0.58702	4.795000	0.62489	2.428000	0.82296	0.464000	0.42555	CCC		PASS	0.463	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		8	2	8	2	---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100170053	100170053	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:100170053G>A	ENST00000372956.2	-	3	1228	c.624C>T	c.(622-624)tcC>tcT	p.S208S	XKRX_ENST00000468904.1_Missense_Mutation_p.P119S|XKRX_ENST00000328526.5_Silent_p.S221S			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S221S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CAGATACCAGGGAAAATACCA	0.423																																						uc004egn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(622-624)TCC>TCT		XK, Kell blood group complex subunit-related,							54.0	52.0	53.0					X																	100170053		2203	4300	6503	SO:0001819	synonymous_variant	402415					integral to membrane|plasma membrane		g.chrX:100170053G>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.624C>T	X.37:g.100170053G>A						XKRX_uc011mre.1_Silent_p.S4S	p.S208S	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1229	-			208			Helical; (Potential).		B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	c.624C>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912363	0.17907	.	.	ENSG00000182489	ENST00000468904	T	0.62639	0.01	5.36	2.65	0.31530	.	.	.	.	.	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53107	-0.8485	5	.	.	.	-13.2584	8.1724	0.31262	0.3979:0.0:0.6021:0.0	.	.	.	.	S	119	ENSP00000419884:P119S	.	P	-	1	0	XKRX	100056709	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	1.382000	0.34374	0.123000	0.18342	-0.444000	0.05651	CCT		PASS	0.423	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		28	12	28	12	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911283	100911283	+	Missense_Mutation	SNP	G	G	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:100911283G>T	ENST00000328766.5	-	5	1745	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ARMCX2_ENST00000356824.4_Missense_Mutation_p.P431Q|ARMCX2_ENST00000330154.2_Missense_Mutation_p.P431Q|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	431						integral component of membrane (GO:0016021)		p.P431Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGCAATAATTGGGAGGCCTCC	0.413																																						uc004eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1291-1293)CCA>CAA		ALEX2 protein							133.0	120.0	125.0					X																	100911283		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911283G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1292C>A	X.37:g.100911283G>T	ENSP00000331662:p.Pro431Gln					ARMCX2_uc004eie.3_Missense_Mutation_p.P431Q|ARMCX2_uc004eif.3_Missense_Mutation_p.P431Q|ARMCX2_uc004eig.3_Missense_Mutation_p.P431Q|ARMCX2_uc010nnt.2_Missense_Mutation_p.P431Q	p.P431Q	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1647	-			431			ARM 2.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1292C>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570564	0.45798	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.56103	0.48;0.48;0.48	4.09	4.09	0.47781	Armadillo-like helical (1);Armadillo-type fold (1);	0.380247	0.29515	N	0.011925	T	0.61527	0.2354	L	0.45137	1.4	0.34683	D	0.724904	D	0.69078	0.997	D	0.72625	0.978	T	0.70464	-0.4864	10	0.54805	T	0.06	-8.1308	10.6804	0.45811	0.0:0.0:1.0:0.0	.	431	Q7L311	ARMX2_HUMAN	Q	431	ENSP00000331662:P431Q;ENSP00000328631:P431Q;ENSP00000349281:P431Q	ENSP00000331662:P431Q	P	-	2	0	ARMCX2	100797939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.603000	0.61105	2.283000	0.76528	0.422000	0.28245	CCA		PASS	0.413	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		4	44	4	44	---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105450669	105450669	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:105450669G>A	ENST00000357175.2	+	4	1893	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	MUM1L1_ENST00000372552.1_Missense_Mutation_p.R415Q|MUM1L1_ENST00000337685.2_Missense_Mutation_p.R415Q	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	415	PWWP.					extracellular vesicular exosome (GO:0070062)		p.R415Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTATCAGACGAAAAGAGAGG	0.323																																						uc004emf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1243-1245)CGA>CAA		melanoma associated antigen (mutated) 1-like 1							39.0	34.0	35.0					X																	105450669		1832	4073	5905	SO:0001583	missense	139221							g.chrX:105450669G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1244G>A	X.37:g.105450669G>A	ENSP00000349699:p.Arg415Gln					MUM1L1_uc004emg.1_Missense_Mutation_p.R415Q	p.R415Q	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1893	+			415			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1244G>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804396	0.31869	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.46451	0.87;0.87;0.87	4.31	3.45	0.39498	.	0.000000	0.42172	D	0.000758	T	0.25975	0.0633	L	0.36672	1.1	0.31965	N	0.607967	P	0.52061	0.95	B	0.38954	0.286	T	0.25117	-1.0141	10	0.21014	T	0.42	-48.0889	6.9252	0.24412	0.1247:0.0:0.8753:0.0	.	415	Q5H9M0	MUML1_HUMAN	Q	415	ENSP00000349699:R415Q;ENSP00000338641:R415Q;ENSP00000361632:R415Q	ENSP00000338641:R415Q	R	+	2	0	MUM1L1	105337325	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	1.591000	0.36665	1.163000	0.42636	0.529000	0.55759	CGA		PASS	0.323	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		19	10	19	10	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	105970510	105970510	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:105970510G>A	ENST00000255499.2	+	1	617	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	123	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G123S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CATCCAACGCGGCGGGGGCTG	0.607																																						uc004eml.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(367-369)GGC>AGC		ring finger protein 128 isoform 1							39.0	38.0	39.0					X																	105970510		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105970510G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.367G>A	X.37:g.105970510G>A	ENSP00000255499:p.Gly123Ser					RNF128_uc004emk.2_Intron	p.G123S	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN			1	617	+			123			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.367G>A	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920120	0.92249	.	.	ENSG00000133135	ENST00000255499	T	0.26223	1.75	4.31	4.31	0.51392	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.92122	3.275	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.67162	-0.5740	10	0.46703	T	0.11	.	13.1327	0.59391	0.0:0.0:1.0:0.0	.	123	Q8TEB7	RN128_HUMAN	S	123	ENSP00000255499:G123S	ENSP00000255499:G123S	G	+	1	0	RNF128	105857166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.017000	0.76399	1.907000	0.55213	0.513000	0.50165	GGC		PASS	0.607	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		18	7	18	7	---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107408618	107408618	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:107408618C>T	ENST00000372216.4	-	38	3893	c.3793G>A	c.(3793-3795)Ggc>Agc	p.G1265S	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1240S|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1264S|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1265S|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1240S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1265	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1264S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCATCTAGGCCTGGTCGCCCG	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3793-3795)GGC>AGC		type IV alpha 6 collagen isoform A precursor							123.0	109.0	114.0					X																	107408618		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408618C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3793G>A	X.37:g.107408618C>T	ENSP00000361290:p.Gly1265Ser					COL4A6_uc004env.3_Missense_Mutation_p.G1264S|COL4A6_uc011msn.1_Missense_Mutation_p.G1240S|COL4A6_uc010npk.2_Missense_Mutation_p.G1240S|COL4A6_uc010npj.2_5'Flank	p.G1265S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			38	3896	-			1265			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3793G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635666	0.67130	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75;-5.75	4.32	4.32	0.51571	.	0.000000	0.40064	N	0.001200	D	0.99648	0.9870	H	0.97587	4.035	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.97311	0.9937	10	0.87932	D	0	.	16.8852	0.86074	0.0:1.0:0.0:0.0	.	1240;1240;1265;1264	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	1265;1264;1265;1264;1240;1240	ENSP00000361290:G1265S;ENSP00000334733:G1264S;ENSP00000378340:G1265S;ENSP00000443707:G1240S;ENSP00000445236:G1240S	ENSP00000334733:G1264S	G	-	1	0	COL4A6	107295274	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.107000	0.77047	2.100000	0.63781	0.529000	0.55759	GGC		PASS	0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			5	54	5	54	---	---	---	---
TMEM164	84187	broad.mit.edu	37	X	109414719	109414719	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:109414719C>T	ENST00000372073.1	+	6	994	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.H181Y|TMEM164_ENST00000372068.2_Missense_Mutation_p.H220Y|TMEM164_ENST00000372072.3_Missense_Mutation_p.H71Y			Q5U3C3	TM164_HUMAN	transmembrane protein 164	220						integral component of membrane (GO:0016021)		p.H220Y(1)|p.H181Y(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GTTCTTTTATCACTTCAGCGT	0.507																																						uc004eom.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|skin(1)	3						c.(658-660)CAC>TAC		transmembrane protein 164 isoform b							340.0	292.0	308.0					X																	109414719		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109414719C>T	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.658C>T	X.37:g.109414719C>T	ENSP00000361143:p.His220Tyr					TMEM164_uc004eol.2_Missense_Mutation_p.H71Y|TMEM164_uc010npq.2_Missense_Mutation_p.H181Y	p.H220Y	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			6	977	+			220			Helical; (Potential).		B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.658C>T	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853743	0.91355	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.961;0.984	T	0.75271	-0.3376	10	0.87932	D	0	-9.0689	18.0934	0.89481	0.0:1.0:0.0:0.0	.	181;220	Q9H617;Q5U3C3	.;TM164_HUMAN	Y	71;220;220;181;181	ENSP00000384075:H71Y;ENSP00000361143:H220Y;ENSP00000361138:H220Y;ENSP00000288381:H181Y	ENSP00000288381:H181Y	H	+	1	0	TMEM164	109301375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.072000	0.76777	2.207000	0.71202	0.523000	0.50628	CAC		PASS	0.507	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		85	31	85	31	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694723	109694723	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:109694723G>A	ENST00000465301.2	+	3	1124	c.878G>A	c.(877-879)gGa>gAa	p.G293E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G293E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	293								p.G293E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AACTCTGGGGGAATACCTACC	0.483																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(877-879)GGA>GAA		retrotransposon gag domain containing 1							166.0	142.0	150.0					X																	109694723		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694723G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.878G>A	X.37:g.109694723G>A	ENSP00000419786:p.Gly293Glu					RGAG1_uc011msr.1_Missense_Mutation_p.G293E	p.G293E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1124	+			293					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.878G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.487962	0.00161	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.41065	1.01;1.01	3.91	0.761	0.18448	.	0.305411	0.18473	N	0.140155	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.19148	0.024	T	0.13710	-1.0499	9	.	.	.	-2.7034	2.046	0.03561	0.3691:0.0:0.3729:0.2579	.	293	Q8NET4	RGAG1_HUMAN	E	293	ENSP00000419786:G293E;ENSP00000441452:G293E	.	G	+	2	0	RGAG1	109581379	0.986000	0.35501	0.014000	0.15608	0.141000	0.21300	0.938000	0.28965	0.020000	0.15106	0.600000	0.82982	GGA		PASS	0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		62	31	62	31	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109697128	109697128	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:109697128C>T	ENST00000465301.2	+	3	3529	c.3283C>T	c.(3283-3285)Ccg>Tcg	p.P1095S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P1095S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1095								p.P1095S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGTCCACTCCGGAAATCAA	0.537																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3283-3285)CCG>TCG		retrotransposon gag domain containing 1							112.0	99.0	103.0					X																	109697128		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697128C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3283C>T	X.37:g.109697128C>T	ENSP00000419786:p.Pro1095Ser					RGAG1_uc011msr.1_Missense_Mutation_p.P1095S	p.P1095S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	3529	+			1095					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3283C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.765603	0.00651	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.41065	1.01;1.01	4.52	-0.476	0.12100	.	1.909800	0.03199	N	0.174447	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08493	-1.0719	9	.	.	.	10.6857	2.5985	0.04860	0.1401:0.2773:0.4067:0.1759	.	1095	Q8NET4	RGAG1_HUMAN	S	1095;1095;656	ENSP00000419786:P1095S;ENSP00000441452:P1095S	.	P	+	1	0	RGAG1	109583784	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.905000	0.04075	-0.246000	0.09611	0.600000	0.82982	CCG		PASS	0.537	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		54	23	54	23	---	---	---	---
CHRDL1	91851	broad.mit.edu	37	X	109931896	109931896	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:109931896T>C	ENST00000372045.1	-	9	1024	c.893A>G	c.(892-894)aAt>aGt	p.N298S	CHRDL1_ENST00000444321.2_Missense_Mutation_p.N304S|CHRDL1_ENST00000394797.4_Missense_Mutation_p.N304S|CHRDL1_ENST00000218054.4_Missense_Mutation_p.N304S|CHRDL1_ENST00000482160.1_Missense_Mutation_p.N225S|CHRDL1_ENST00000372042.1_Missense_Mutation_p.N305S|CHRDL1_ENST00000434224.1_Missense_Mutation_p.N225S			Q9BU40	CRDL1_HUMAN	chordin-like 1	298	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.N304S(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGGGTATCGATTGGGGCAGTG	0.478																																						uc004eou.3																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)AAT>AGT		chordin-like 1 isoform 1 precursor							189.0	173.0	178.0					X																	109931896		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109931896T>C	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.893A>G	X.37:g.109931896T>C	ENSP00000361115:p.Asn298Ser					CHRDL1_uc004eov.2_Missense_Mutation_p.N299S|CHRDL1_uc004eow.2_Missense_Mutation_p.N304S|CHRDL1_uc010nps.2_Missense_Mutation_p.N304S|CHRDL1_uc004eot.2_Missense_Mutation_p.N225S|CHRDL1_uc011mss.1_Missense_Mutation_p.N219S	p.N305S	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			9	1263	-			298			VWFC 3.		B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.914A>G		.	.	.	.	.	.	.	.	.	.	t	7.251	0.603197	0.13939	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.02	-1.64	0.08318	von Willebrand factor, type C (4);	0.538496	0.21557	N	0.072625	T	0.40743	0.1129	N	0.03084	-0.415	0.22081	N	0.999373	B;B;B;B;B;B	0.31655	0.016;0.334;0.164;0.164;0.334;0.001	B;B;B;B;B;B	0.31946	0.038;0.138;0.098;0.098;0.138;0.003	T	0.39418	-0.9615	9	.	.	.	-4.9541	10.0228	0.42053	0.0:0.3478:0.0:0.6522	.	225;304;284;298;305;225	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	S	298;225;304;304;305;225;304	ENSP00000361115:N298S;ENSP00000389627:N225S;ENSP00000218054:N304S;ENSP00000378276:N304S;ENSP00000361112:N305S;ENSP00000418443:N225S;ENSP00000399739:N304S	.	N	-	2	0	CHRDL1	109818552	0.853000	0.29707	0.804000	0.32291	0.962000	0.63368	0.203000	0.17315	-0.529000	0.06358	0.483000	0.47432	AAT		PASS	0.478	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		49	39	49	39	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111155915	111155915	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:111155915G>A	ENST00000262839.2	-	3	1422	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	168					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I168I(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGGCCGTGGGATAGTGACCC	0.522																																						uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(502-504)ATC>ATT		transient receptor potential cation channel,							115.0	99.0	105.0					X																	111155915		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155915G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.504C>T	X.37:g.111155915G>A						TRPC5_uc004epm.1_Silent_p.I168I	p.I168I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			3	1423	-			168			Cytoplasmic (Potential).|ANK 4.		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.504C>T	CCDS14561.1																																																																																				PASS	0.522	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		29	14	29	14	---	---	---	---
HTR2C	3358	broad.mit.edu	37	X	114141439	114141439	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:114141439C>T	ENST00000276198.1	+	6	1566	c.838C>T	c.(838-840)Cct>Tct	p.P280S	HTR2C_ENST00000371951.1_Missense_Mutation_p.P280S|HTR2C_ENST00000371950.3_Missense_Mutation_p.P248L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	280					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P280S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTCTGCAAACCCTAACCAAGA	0.517																																						uc004epu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(838-840)CCT>TCT		5-hydroxytryptamine (serotonin) receptor 2C	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						134.0	128.0	130.0					X																	114141439		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141439C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.838C>T	X.37:g.114141439C>T	ENSP00000276198:p.Pro280Ser					HTR2C_uc010nqc.1_Missense_Mutation_p.P280S|HTR2C_uc004epv.1_Missense_Mutation_p.P248L	p.P280S	NM_000868	NP_000859	P28335	5HT2C_HUMAN			6	1566	+			280			Cytoplasmic (By similarity).		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.838C>T	CCDS14564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.348|9.348	1.064768|1.064768	0.20067|0.20067	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.58940|0.59502	0.3|0.26;0.26	4.3|4.3	3.4|3.4	0.38934|0.38934	.|GPCR, rhodopsin-like superfamily (1);	0.647057|0.647057	0.15104|0.15104	N|N	0.280352|0.280352	T|T	0.32102|0.32102	0.0818|0.0818	N|N	0.11131|0.11131	0.1|0.1	0.09310|0.09310	N|N	1|1	B|B	0.33694|0.28584	0.421|0.216	B|B	0.29785|0.28465	0.107|0.09	T|T	0.20240|0.20240	-1.0281|-1.0281	10|10	0.87932|0.02654	D|T	0|1	.|.	10.4646|10.4646	0.44600|0.44600	0.1958:0.8042:0.0:0.0|0.1958:0.8042:0.0:0.0	.|.	248|280	B1AMW4|P28335	.|5HT2C_HUMAN	L|S	248|280	ENSP00000361018:P248L|ENSP00000276198:P280S;ENSP00000361019:P280S	ENSP00000361018:P248L|ENSP00000276198:P280S	P|P	+|+	2|1	0|0	HTR2C|HTR2C	114047695|114047695	1.000000|1.000000	0.71417|0.71417	0.291000|0.291000	0.24904|0.24904	0.466000|0.466000	0.32739|0.32739	3.035000|3.035000	0.49759|0.49759	0.929000|0.929000	0.37192|0.37192	0.468000|0.468000	0.43344|0.43344	CCC|CCT		PASS	0.517	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		56	20	56	20	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122747266	122747266	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:122747266G>A	ENST00000245838.8	-	36	4692	c.4661C>T	c.(4660-4662)tCc>tTc	p.S1554F	THOC2_ENST00000491737.1_Missense_Mutation_p.S1439F|THOC2_ENST00000355725.4_Missense_Mutation_p.S1554F|THOC2_ENST00000497887.1_5'UTR	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1554	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.S1475F(1)|p.S1554F(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCCACCGGAGGAGATTTTATC	0.289																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4660-4662)TCC>TTC		THO complex 2							83.0	70.0	74.0					X																	122747266		1791	4054	5845	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122747266G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4661C>T	X.37:g.122747266G>A	ENSP00000245838:p.Ser1554Phe					THOC2_uc004etv.3_5'Flank|THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.S375F	p.S1554F	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			36	4693	-			1554			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.4661C>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.04|13.04	2.118947|2.118947	0.37436|0.37436	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000448128;ENST00000441692|ENST00000245838;ENST00000455053;ENST00000355725;ENST00000416618;ENST00000491737	.|.	.|.	.|.	5.82|5.82	4.96|4.96	0.65561|0.65561	.|.	.|0.418793	.|0.22940	.|N	.|0.053796	T|T	0.45155|0.45155	0.1328|0.1328	L|L	0.34521|0.34521	1.04|1.04	0.44439|0.44439	D|D	0.997364|0.997364	.|B	.|0.25719	.|0.132	.|B	.|0.21360	.|0.034	T|T	0.40905|0.40905	-0.9538|-0.9538	5|9	.|0.62326	.|D	.|0.03	-3.9948|-3.9948	9.5838|9.5838	0.39504|0.39504	0.0758:0.1381:0.7862:0.0|0.0758:0.1381:0.7862:0.0	.|.	.|1554	.|Q8NI27	.|THOC2_HUMAN	S|F	150;349|1554;47;1554;143;1439	.|.	.|ENSP00000245838:S1554F	P|S	-|-	1|2	0|0	THOC2|THOC2	122574947|122574947	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.997000|0.997000	0.91878|0.91878	5.774000|5.774000	0.68906|0.68906	1.219000|1.219000	0.43474|0.43474	0.600000|0.600000	0.82982|0.82982	CCT|TCC		PASS	0.289	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			11	8	11	8	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123518520	123518520	+	Silent	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:123518520G>A	ENST00000371130.3	-	29	6303	c.6240C>T	c.(6238-6240)ttC>ttT	p.F2080F	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.F2087F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2080					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F2082F(1)									TAATTACACTGAATTTTCCAA	0.378																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6238-6240)TTC>TTT		odz, odd Oz/ten-m homolog 1 isoform 3							147.0	131.0	136.0					X																	123518520		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518520G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6240C>T	X.37:g.123518520G>A						ODZ1_uc011muj.1_Silent_p.F2086F|ODZ1_uc010nqy.2_Silent_p.F2087F	p.F2080F	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6304	-			2080			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.6240C>T	CCDS14609.1																																																																																				PASS	0.378	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		32	14	32	14	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123805542	123805542	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:123805542C>T	ENST00000371130.3	-	6	1222	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TENM1_ENST00000422452.2_Missense_Mutation_p.E387K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	387					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E389K(1)									CCTTTTTTCTCTGATTTATCA	0.383																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1159-1161)GAG>AAG		odz, odd Oz/ten-m homolog 1 isoform 3							124.0	110.0	115.0					X																	123805542		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123805542C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1159G>A	X.37:g.123805542C>T	ENSP00000360171:p.Glu387Lys					ODZ1_uc011muj.1_Missense_Mutation_p.E386K|ODZ1_uc010nqy.2_Missense_Mutation_p.E387K	p.E387K	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			6	1223	-			387			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1159G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319802	0.41096	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27557	1.66;1.66	5.97	5.97	0.96955	.	0.475904	0.20743	N	0.086516	T	0.19685	0.0473	N	0.14661	0.345	0.58432	D	0.999997	B;B;B	0.22604	0.013;0.013;0.072	B;B;B	0.18871	0.002;0.003;0.023	T	0.09250	-1.0683	10	0.06494	T	0.89	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	386;387;387	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	387	ENSP00000360171:E387K;ENSP00000403954:E387K	ENSP00000360171:E387K	E	-	1	0	ODZ1	123633223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.677000	0.68142	2.504000	0.84457	0.594000	0.82650	GAG		PASS	0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		37	22	37	22	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128710350	128710350	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:128710350C>T	ENST00000371113.4	+	18	2101	c.1936C>T	c.(1936-1938)Ctg>Ttg	p.L646L	OCRL_ENST00000357121.5_Silent_p.L646L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	646	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.L646L(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGTAACCATCCTGAACTCGGG	0.408																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(1936-1938)CTG>TTG		phosphatidylinositol polyphosphate 5-phosphatase							150.0	125.0	134.0					X																	128710350		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710350C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1936C>T	X.37:g.128710350C>T						OCRL_uc004eur.2_Silent_p.L646L	p.L646L	NM_000276	NP_000267	Q01968	OCRL_HUMAN			18	2101	+			646					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.1936C>T	CCDS35393.1																																																																																				PASS	0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		23	20	23	20	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129053249	129053249	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:129053249C>T	ENST00000394422.3	+	7	664	c.636C>T	c.(634-636)ctC>ctT	p.L212L	UTP14A_ENST00000371042.3_Silent_p.L44L|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Silent_p.L160L|UTP14A_ENST00000371051.5_Silent_p.L158L	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	212					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L212L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGGCCTCTCTCCGAGCCATGA	0.542																																						uc004euz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(634-636)CTC>CTT		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	97.0	100.0					X																	129053249		2203	4300	6503	SO:0001819	synonymous_variant	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053249C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.636C>T	X.37:g.129053249C>T						UTP14A_uc011mup.1_Silent_p.L160L|UTP14A_uc011muq.1_Silent_p.L158L|UTP14A_uc004eva.1_5'Flank	p.L212L	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			7	664	+			212					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	ENST00000394422.3	37	c.636C>T	CCDS14615.1																																																																																				PASS	0.542	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		48	17	48	17	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130220569	130220569	+	Silent	SNP	T	T	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:130220569T>A	ENST00000276211.5	+	11	1761	c.1416T>A	c.(1414-1416)ctT>ctA	p.L472L	ARHGAP36_ENST00000370922.1_Silent_p.L460L|ARHGAP36_ENST00000370921.1_Silent_p.L336L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	472					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L472L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGCACTACTTTCTGATCCAG	0.473																																						uc004evz.2																			1	Substitution - coding silent(1)	p.L472I(1)	lung(1)	ovary(3)	3						c.(1414-1416)CTT>CTA		hypothetical protein LOC158763 precursor							114.0	99.0	104.0					X																	130220569		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220569T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1416T>A	X.37:g.130220569T>A						ARHGAP36_uc004ewa.2_Silent_p.L460L|ARHGAP36_uc004ewb.2_Silent_p.L441L|ARHGAP36_uc004ewc.2_Silent_p.L336L	p.L472L	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			11	1761	+			472					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.1416T>A	CCDS14628.1																																																																																				PASS	0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		41	18	41	18	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130416678	130416678	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:130416678G>A	ENST00000361420.3	-	7	1065	c.986C>T	c.(985-987)cCc>cTc	p.P329L	IGSF1_ENST00000370904.1_Missense_Mutation_p.P320L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P329L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P320L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	329	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.P329L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACAGCACTGGGCCGAGCAAG	0.493																																						uc004ewd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(985-987)CCC>CTC		immunoglobulin superfamily, member 1 isoform 1							91.0	82.0	85.0					X																	130416678		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416678G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.986C>T	X.37:g.130416678G>A	ENSP00000355010:p.Pro329Leu					IGSF1_uc004ewe.3_Missense_Mutation_p.P318L|IGSF1_uc004ewf.2_Missense_Mutation_p.P309L	p.P329L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			7	1224	-			329			Ig-like C2-type 4.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.986C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157429	0.38119	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01228	5.14;5.14;5.14;5.14	4.78	2.06	0.26882	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000116	T	0.08044	0.0201	M	0.90425	3.115	0.40281	D	0.978399	D;D	0.76494	0.991;0.999	D;D	0.85130	0.964;0.997	T	0.01156	-1.1434	10	0.56958	D	0.05	.	5.7454	0.18118	0.343:0.0:0.657:0.0	.	320;329	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	L	320;329;320;329	ENSP00000359947:P320L;ENSP00000355010:P329L;ENSP00000359941:P320L;ENSP00000359940:P329L	ENSP00000355010:P329L	P	-	2	0	IGSF1	130244359	1.000000	0.71417	0.911000	0.35937	0.171000	0.22731	2.771000	0.47670	0.562000	0.29204	0.594000	0.82650	CCC		PASS	0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			24	11	24	11	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132159856	132159856	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:132159856C>T	ENST00000511190.1	-	6	2862	c.2393G>A	c.(2392-2394)aGa>aAa	p.R798K	USP26_ENST00000370832.1_Missense_Mutation_p.R798K|USP26_ENST00000406273.1_Missense_Mutation_p.R798K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	798	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R798K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCTTTGTTTCTTGGATTCTT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(2392-2394)AGA>AAA		ubiquitin-specific protease 26							120.0	117.0	118.0					X																	132159856		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132159856C>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.2393G>A	X.37:g.132159856C>T	ENSP00000423390:p.Arg798Lys					USP26_uc011mvf.1_Missense_Mutation_p.R798K	p.R798K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	2863	-	Acute lymphoblastic leukemia(192;0.000127)		798					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.2393G>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666101	0.47677	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.73897	-0.79;-0.79;-0.79	4.03	1.2	0.21068	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.699959	0.11801	N	0.528134	T	0.71567	0.3355	L	0.40543	1.245	0.09310	N	1	P	0.42649	0.786	P	0.51701	0.677	T	0.60772	-0.7197	10	0.66056	D	0.02	-1.2989	4.8699	0.13627	0.0:0.6041:0.1766:0.2193	.	798	Q9BXU7	UBP26_HUMAN	K	798	ENSP00000359869:R798K;ENSP00000423390:R798K;ENSP00000384360:R798K	ENSP00000359869:R798K	R	-	2	0	USP26	131987522	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.191000	0.17076	0.113000	0.18004	0.600000	0.82982	AGA		PASS	0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		37	25	37	25	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135741238	135741238	+	Missense_Mutation	SNP	C	C	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:135741238C>G	ENST00000370629.2	+	5	506	c.450C>G	c.(448-450)aaC>aaG	p.N150K	CD40LG_ENST00000370628.2_Missense_Mutation_p.N129K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	150					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.N150K(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					CCATGAGCAACAACTTGGTAA	0.433									Immune Deficiency with Hyper-IgM																													uc004faa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(448-450)AAC>AAG		CD40 ligand	Atorvastatin(DB01076)						235.0	236.0	235.0					X																	135741238		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741238C>G	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.450C>G	X.37:g.135741238C>G	ENSP00000359663:p.Asn150Lys					CD40LG_uc010nsd.2_Missense_Mutation_p.N129K	p.N150K	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	522	+	Acute lymphoblastic leukemia(192;0.000127)		150			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.450C>G	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472612	0.26423	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.97831	-4.56;-4.56	5.42	3.6	0.41247	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.571886	0.18744	N	0.132369	D	0.94525	0.8237	L	0.39898	1.24	0.09310	N	1	B;B	0.30973	0.302;0.037	B;B	0.28139	0.086;0.027	D	0.88309	0.2955	10	0.49607	T	0.09	-1.4593	9.1799	0.37134	0.1463:0.7748:0.0:0.0789	.	129;150	Q3L8U2;P29965	.;CD40L_HUMAN	K	150;129	ENSP00000359663:N150K;ENSP00000359662:N129K	ENSP00000359662:N129K	N	+	3	2	CD40LG	135568904	0.009000	0.17119	0.766000	0.31476	0.994000	0.84299	1.089000	0.30890	0.446000	0.26666	0.600000	0.82982	AAC		PASS	0.433	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		121	88	121	88	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135741253	135741254	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:135741253_135741254GG>AA	ENST00000370629.2	+	5	521_522	c.465_466GG>AA	c.(463-468)ctGGaa>ctAAaa	p.E156K	CD40LG_ENST00000370628.2_Missense_Mutation_p.E135K	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	156					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.E156K(2)|p.L155L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TGGTAACCCTGGAAAATGGGAA	0.441									Immune Deficiency with Hyper-IgM																													uc004faa.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(463-465)CTG>CTA|c.(466-468)GAA>AAA		CD40 ligand	Atorvastatin(DB01076)																																			SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741253G>A|g.chrX:135741254G>A	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	Exception_encountered	X.37:g.135741253_135741254delinsAA	ENSP00000359663:p.Glu156Lys					CD40LG_uc010nsd.2_Silent_p.L134L|CD40LG_uc010nsd.2_Missense_Mutation_p.E135K	p.L155L|p.E156K	NM_000074	NP_000065	P29965	CD40L_HUMAN			5	537|538	+	Acute lymphoblastic leukemia(192;0.000127)		155|156		L -> P (in HIGM1).|	Extracellular (Potential).			Silent|Missense_Mutation	SNP	ENST00000370629.2	37	c.465G>A|c.466G>A	CCDS14659.1																																																																																				PASS	0.441	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		132|131	88	131	88	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138699718	138699718	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:138699718C>T	ENST00000370576.4	-	8	1162	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	MCF2_ENST00000370578.4_Missense_Mutation_p.R463Q|MCF2_ENST00000536274.1_Missense_Mutation_p.R279Q|MCF2_ENST00000338585.6_Missense_Mutation_p.R318Q|MCF2_ENST00000520602.1_Missense_Mutation_p.R378Q|MCF2_ENST00000414978.1_Missense_Mutation_p.R378Q|MCF2_ENST00000519895.1_Missense_Mutation_p.R378Q|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370573.4_Missense_Mutation_p.R318Q	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	318					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R318Q(2)|p.R378Q(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAGTTGTATCCGTTTTGCTTT	0.383																																						uc004fau.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|pleura(1)	2						c.(952-954)CGG>CAG		MCF.2 cell line derived transforming sequence							219.0	178.0	192.0					X																	138699718		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138699718C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.953G>A	X.37:g.138699718C>T	ENSP00000359608:p.Arg318Gln					MCF2_uc004fav.2_Missense_Mutation_p.R318Q|MCF2_uc011mwl.1_Missense_Mutation_p.R279Q|MCF2_uc010nsh.1_Missense_Mutation_p.R318Q|MCF2_uc011mwm.1_Missense_Mutation_p.R279Q|MCF2_uc011mwn.1_Missense_Mutation_p.R463Q|MCF2_uc004faw.2_Missense_Mutation_p.R378Q|MCF2_uc011mwo.1_Missense_Mutation_p.R378Q	p.R318Q	NM_005369	NP_005360	P10911	MCF2_HUMAN			8	1247	-	Acute lymphoblastic leukemia(192;0.000127)		318			Spectrin.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.953G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807144	0.31961	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.98	1.93	0.25924	.	0.643240	0.17622	N	0.167685	T	0.31670	0.0804	L	0.49513	1.565	0.09310	N	1	B;B;B;B;B;B;B;B	0.21688	0.004;0.051;0.014;0.002;0.001;0.008;0.059;0.014	B;B;B;B;B;B;B;B	0.16722	0.006;0.005;0.009;0.006;0.002;0.006;0.016;0.006	T	0.19257	-1.0311	10	0.24483	T	0.36	.	6.7685	0.23581	0.0:0.3432:0.0:0.6568	.	378;463;279;318;318;463;318;318	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	Q	378;318;279;463;378;378;318;318	ENSP00000427745:R378Q;ENSP00000359608:R318Q;ENSP00000438155:R279Q;ENSP00000359610:R463Q;ENSP00000397055:R378Q;ENSP00000430276:R378Q;ENSP00000359605:R318Q;ENSP00000342204:R318Q	ENSP00000342204:R318Q	R	-	2	0	MCF2	138527384	0.001000	0.12720	0.086000	0.20670	0.898000	0.52572	-0.052000	0.11865	0.275000	0.22094	0.544000	0.68410	CGG		PASS	0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		57	16	57	16	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985241	140985241	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:140985241A>C	ENST00000298296.1	+	7	1697	c.1697A>C	c.(1696-1698)gAg>gCg	p.E566A	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E268A|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E268A|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E268A|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E188A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	566	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E566A(1)|p.E268A(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCCGAGGAGGTCATCTGG	0.498																																						uc011mwp.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1696-1698)GAG>GCG		melanoma antigen family C, 3 isoform 1							110.0	103.0	105.0					X																	140985241		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985241A>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1697A>C	X.37:g.140985241A>C	ENSP00000298296:p.Glu566Ala					MAGEC3_uc004fbs.2_Missense_Mutation_p.E268A|MAGEC3_uc010nsj.2_Missense_Mutation_p.E268A	p.E566A	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1697	+	Acute lymphoblastic leukemia(192;6.56e-05)		566			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1697A>C	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	a	10.27	1.304961	0.23736	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	1.25	1.25	0.21368	.	.	.	.	.	T	0.15478	0.0373	L	0.58510	1.815	0.09310	N	1	P;D	0.58620	0.776;0.983	P;D	0.69142	0.613;0.962	T	0.10567	-1.0624	9	0.62326	D	0.03	.	4.2608	0.10740	1.0:0.0:0.0:0.0	.	566;268	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	A	566;268;188;268;268	ENSP00000298296:E566A;ENSP00000441107:E268A;ENSP00000438254:E188A;ENSP00000440444:E268A;ENSP00000386566:E268A	ENSP00000298296:E566A	E	+	2	0	MAGEC3	140812907	0.003000	0.15002	0.005000	0.12908	0.010000	0.07245	0.669000	0.25142	0.737000	0.32582	0.235000	0.17854	GAG		PASS	0.498	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		40	22	40	22	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995733	140995733	+	Missense_Mutation	SNP	A	A	G			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:140995733A>G	ENST00000285879.4	+	4	2829	c.2543A>G	c.(2542-2544)gAg>gGg	p.E848G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	848								p.E848G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCCCCTGAGAGTCCTCTC	0.522										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2542-2544)GAG>GGG		melanoma antigen family C, 1							121.0	127.0	125.0					X																	140995733		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995733A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2543A>G	X.37:g.140995733A>G	ENSP00000285879:p.Glu848Gly	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.E848G	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2829	+	Acute lymphoblastic leukemia(192;6.56e-05)		848					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2543A>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	6.034	0.374690	0.11409	.	.	ENSG00000155495	ENST00000285879	T	0.02258	4.37	0.548	-0.753	0.11068	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.26512	0.151	B	0.17979	0.02	T	0.46843	-0.9162	8	0.56958	D	0.05	.	.	.	.	.	848	O60732	MAGC1_HUMAN	G	848	ENSP00000285879:E848G	ENSP00000285879:E848G	E	+	2	0	MAGEC1	140823399	0.008000	0.16893	0.007000	0.13788	0.136000	0.21042	0.527000	0.22987	-0.364000	0.08088	0.143000	0.16000	GAG		PASS	0.522	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		61	19	61	19	---	---	---	---
SPANXN3	139067	broad.mit.edu	37	X	142596772	142596772	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:142596772C>T	ENST00000370503.2	-	2	381	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	100								p.E100K(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAGGTCTTCATCCTCATTT	0.463																																						uc004fbw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(298-300)GAA>AAA		SPANX-N3 protein							212.0	168.0	183.0					X																	142596772		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142596772C>T		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.298G>A	X.37:g.142596772C>T	ENSP00000359534:p.Glu100Lys						p.E100K	NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN			2	386	-	Acute lymphoblastic leukemia(192;6.56e-05)		100					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.298G>A	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	c	12.25	1.881222	0.33255	.	.	ENSG00000189252	ENST00000370503	T	0.11277	2.79	0.768	-0.671	0.11381	.	.	.	.	.	T	0.14227	0.0344	L	0.43152	1.355	0.09310	N	1	D	0.56968	0.978	P	0.53649	0.731	T	0.16217	-1.0410	8	0.87932	D	0	.	.	.	.	.	100	Q5MJ09	SPXN3_HUMAN	K	100	ENSP00000359534:E100K	ENSP00000359534:E100K	E	-	1	0	SPANXN3	142424438	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-0.199000	0.09491	-0.284000	0.09102	0.406000	0.27484	GAA		PASS	0.463	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		35	14	35	14	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:144337190G>A	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443																																						uc004fcb.2																			2	Unknown(2)		lung(2)		0						c.e2-1		SPANX-N1 protein							85.0	82.0	83.0					X																	144337190		2203	4297	6500	SO:0001630	splice_region_variant	494118							g.chrX:144337190G>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.76-1G>A	X.37:g.144337190G>A							p.M26_splice	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			2	76	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370493.3	37	c.76_splice	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.135	-1.109476	0.01813	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.64	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5569	0.00672	0.1823:0.2389:0.3353:0.2435	.	.	.	.	.	-1	.	.	.	+	.	.	SPANXN1	144144882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.699000	0.05087	-0.716000	0.04962	-2.006000	0.00442	.		PASS	0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Intron	22	14	22	14	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904756	144904756	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:144904756C>T	ENST00000370490.1	+	1	5068	c.813C>T	c.(811-813)tcC>tcT	p.S271S	SLITRK2_ENST00000447897.2_Silent_p.S271S|SLITRK2_ENST00000434188.2_Silent_p.S271S|SLITRK2_ENST00000428560.2_Silent_p.S271S|SLITRK2_ENST00000413937.2_Silent_p.S271S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	271					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S271S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTGATTCCAGTCAGAGGG	0.567																																						uc004fcd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(811-813)TCC>TCT		SLIT and NTRK-like family, member 2 precursor							85.0	80.0	81.0					X																	144904756		2202	4300	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904756C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.813C>T	X.37:g.144904756C>T						SLITRK2_uc010nsp.2_Silent_p.S271S|SLITRK2_uc010nso.2_Silent_p.S271S|SLITRK2_uc011mwq.1_Silent_p.S271S|SLITRK2_uc011mwr.1_Silent_p.S271S|SLITRK2_uc011mws.1_Silent_p.S271S|SLITRK2_uc004fcg.2_Silent_p.S271S|SLITRK2_uc011mwt.1_Silent_p.S271S	p.S271S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1803	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.813C>T	CCDS14680.1																																																																																				PASS	0.567	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		29	26	29	26	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150349046	150349046	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:150349046G>A	ENST00000218316.3	+	2	1060	c.991G>A	c.(991-993)Gag>Aag	p.E331K	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	331	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.E331K(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGATGCAGGAGGCCCGTAC	0.557																																						uc010ntg.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(991-993)GAG>AAG		G protein-coupled receptor 50							98.0	100.0	99.0					X																	150349046		2089	4196	6285	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349046G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.991G>A	X.37:g.150349046G>A	ENSP00000218316:p.Glu331Lys					uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR	p.E331K	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1126	+	Acute lymphoblastic leukemia(192;6.56e-05)		331			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.991G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589322	0.46214	.	.	ENSG00000102195	ENST00000218316	T	0.58060	0.36	3.8	3.8	0.43715	.	0.000000	0.39407	N	0.001378	T	0.36635	0.0974	N	0.24115	0.695	0.29590	N	0.848483	B	0.26081	0.141	B	0.28638	0.092	T	0.22800	-1.0206	10	0.16420	T	0.52	-13.4241	12.5652	0.56306	0.0:0.0:1.0:0.0	.	331	Q13585	MTR1L_HUMAN	K	331	ENSP00000218316:E331K	ENSP00000218316:E331K	E	+	1	0	GPR50	150099704	0.998000	0.40836	0.170000	0.22879	0.023000	0.10783	2.830000	0.48136	1.903000	0.55091	0.529000	0.55759	GAG		PASS	0.557	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		39	16	39	16	---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152612881	152612881	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:152612881C>T	ENST00000421401.3	+	4	915	c.738C>T	c.(736-738)ttC>ttT	p.F246F	ZNF275_ENST00000370251.3_Silent_p.F246F|ZNF275_ENST00000440091.1_Silent_p.F276F|ZNF275_ENST00000370249.2_Silent_p.F193F			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	246					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.F193F(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGATTTCCTGGATCGCC	0.592																																						uc004fhg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(736-738)TTC>TTT		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							56.0	59.0	58.0					X																	152612881		2181	4272	6453	SO:0001819	synonymous_variant	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612881C>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.738C>T	X.37:g.152612881C>T						ZNF275_uc011mym.1_Silent_p.F246F|ZNF275_uc011myn.1_Silent_p.F183F	p.F246F			A6NFS0	A6NFS0_HUMAN			4	915	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		246					A6NE92	Silent	SNP	ENST00000421401.3	37	c.738C>T																																																																																					PASS	0.592	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		27	13	27	13	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153577261	153577261	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:153577261C>T	ENST00000369850.3	-	48	8136	c.7900G>A	c.(7900-7902)Gac>Aac	p.D2634N	FLNA_ENST00000360319.4_Missense_Mutation_p.D2626N|FLNA_ENST00000422373.1_Missense_Mutation_p.D2626N|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.D2594N|FLNA_ENST00000369856.3_Missense_Mutation_p.D767N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2634	Self-association site, tail.			D -> H (in Ref. 2; CAA37495). {ECO:0000305}.	actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.D2634N(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTGCTCGTCCCCCCATTTG	0.667																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(7900-7902)GAC>AAC		filamin A, alpha isoform 2							85.0	91.0	89.0					X																	153577261		2120	4197	6317	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577261C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7900G>A	X.37:g.153577261C>T	ENSP00000358866:p.Asp2634Asn					FLNA_uc004fki.2_Missense_Mutation_p.D674N|FLNA_uc011mzn.1_Missense_Mutation_p.D767N|FLNA_uc010nuu.1_Missense_Mutation_p.D2626N	p.D2634N	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			48	8149	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2634	D -> H (in Ref. 2; CAA37495).		Self-association site, tail.|Filamin 24.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7900G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013701	0.93404	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.74	5.74	0.90152	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.125962	0.49916	D	0.000128	T	0.80994	0.4731	M	0.67700	2.07	0.80722	D	1	B;B;P;P	0.47762	0.321;0.02;0.9;0.9	B;B;P;P	0.55577	0.101;0.053;0.779;0.779	T	0.81816	-0.0759	10	0.59425	D	0.04	.	18.9675	0.92702	0.0:1.0:0.0:0.0	.	767;2626;2634;2634	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2626;2302;2626;2634;767;2594	ENSP00000353467:D2626N;ENSP00000416926:D2626N;ENSP00000358866:D2634N;ENSP00000358872:D767N;ENSP00000358863:D2594N	ENSP00000358863:D2594N	D	-	1	0	FLNA	153230455	1.000000	0.71417	0.336000	0.25522	0.474000	0.32979	7.805000	0.86005	2.428000	0.82296	0.529000	0.55759	GAC		PASS	0.667	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			17	7	17	7	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153587670	153587670	+	Missense_Mutation	SNP	G	G	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:153587670G>A	ENST00000369850.3	-	25	4483	c.4247C>T	c.(4246-4248)cCt>cTt	p.P1416L	FLNA_ENST00000360319.4_Missense_Mutation_p.P1416L|FLNA_ENST00000422373.1_Missense_Mutation_p.P1416L|FLNA_ENST00000344736.4_Missense_Mutation_p.P1416L|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1416					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.P1416L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCTCATAAGGGATGTACTC	0.642																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(4246-4248)CCT>CTT		filamin A, alpha isoform 2							57.0	63.0	61.0					X																	153587670		2128	4204	6332	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587670G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4247C>T	X.37:g.153587670G>A	ENSP00000358866:p.Pro1416Leu					FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.P1416L	p.P1416L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			25	4496	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1416			Filamin 12.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4247C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941335	0.53079	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.951	D	0.99349	1.0914	10	0.87932	D	0	.	18.502	0.90886	0.0:0.0:1.0:0.0	.	1416;1416	P21333-2;P21333	.;FLNA_HUMAN	L	1416;1389;1416;1416;1416	ENSP00000353467:P1416L;ENSP00000416926:P1416L;ENSP00000358866:P1416L;ENSP00000358863:P1416L	ENSP00000358863:P1416L	P	-	2	0	FLNA	153240864	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	7.978000	0.88095	2.311000	0.77944	0.600000	0.82982	CCT		PASS	0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			19	10	19	10	---	---	---	---
TAZ	6901	broad.mit.edu	37	X	153648062	153648062	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:153648062C>T	ENST00000350743.4	+	6	759	c.470C>T	c.(469-471)tCc>tTc	p.S157F	TAZ_ENST00000299328.5_Missense_Mutation_p.S187F|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000475699.1_Missense_Mutation_p.S160F|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369776.4_Intron	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S187F(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACATGAGTTCCGAATTCCTG	0.652																																						uc004fkx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)TCC>TTC		tafazzin isoform 1							83.0	70.0	74.0					X																	153648062		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648062C>T	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.470C>T	X.37:g.153648062C>T	ENSP00000338891:p.Ser157Phe					TAZ_uc004fky.2_Intron|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S157F|TAZ_uc004flb.2_Intron|TAZ_uc010nuy.2_Intron|TAZ_uc004flc.3_Intron	p.S187F	NM_000116	NP_000107	Q16635	TAZ_HUMAN			7	864	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		187			Hydrophilic.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.560C>T	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276409	0.40294	.	.	ENSG00000102125	ENST00000299328;ENST00000350743;ENST00000454722;ENST00000439735;ENST00000475699	D;D;D;D;D	0.93659	-3.24;-3.24;-3.24;-3.24;-3.26	5.04	4.08	0.47627	Phospholipid/glycerol acyltransferase (2);	0.458801	0.22498	N	0.059273	D	0.92583	0.7644	L	0.42245	1.32	0.28520	N	0.913125	B;P	0.52577	0.415;0.954	B;P	0.55222	0.115;0.771	D	0.87701	0.2560	10	0.72032	D	0.01	.	8.5932	0.33699	0.409:0.591:0.0:0.0	.	157;187	Q16635-3;Q16635	.;TAZ_HUMAN	F	187;157;175;156;160	ENSP00000299328:S187F;ENSP00000338891:S157F;ENSP00000397388:S175F;ENSP00000398193:S156F;ENSP00000419854:S160F	ENSP00000299328:S187F	S	+	2	0	TAZ	153301256	0.863000	0.29885	0.796000	0.32109	0.575000	0.36095	3.365000	0.52335	2.093000	0.63338	0.525000	0.51046	TCC		PASS	0.652	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			16	9	16	9	---	---	---	---
GDI1	2664	broad.mit.edu	37	X	153668416	153668416	+	Silent	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:153668416C>A	ENST00000447750.2	+	5	852	c.517C>A	c.(517-519)Cgg>Agg	p.R173R		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.R173R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577																																						uc004fli.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)CGG>AGG		GDP dissociation inhibitor 1							303.0	275.0	284.0					X																	153668416		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668416C>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.517C>A	X.37:g.153668416C>A						GDI1_uc011mzo.1_Silent_p.R173R|GDI1_uc004flj.2_5'Flank	p.R173R	NM_001493	NP_001484	P31150	GDIA_HUMAN			5	859	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		173					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.517C>A	CCDS35452.1																																																																																				PASS	0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		5	180	5	180	---	---	---	---
GDI1	2664	broad.mit.edu	37	X	153668445	153668445	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:153668445C>T	ENST00000447750.2	+	5	881	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	182					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.I182I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGATGTCATCGATTTCACTG	0.617																																						uc004fli.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)ATC>ATT		GDP dissociation inhibitor 1							252.0	225.0	234.0					X																	153668445		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668445C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.546C>T	X.37:g.153668445C>T						GDI1_uc011mzo.1_Silent_p.I182I|GDI1_uc004flj.2_5'Flank	p.I182I	NM_001493	NP_001484	P31150	GDIA_HUMAN			5	888	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		182					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.546C>T	CCDS35452.1																																																																																				PASS	0.617	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		95	53	95	53	---	---	---	---
RAB39B	116442	broad.mit.edu	37	X	154490470	154490470	+	Missense_Mutation	SNP	A	A	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:154490470A>C	ENST00000369454.3	-	2	560	c.260T>G	c.(259-261)cTc>cGc	p.L87R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	87					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.L87R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCAAATAAGAGAAGACCACC	0.438																																						uc004fne.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)CTC>CGC		RAB39B, member RAS oncogene family							167.0	166.0	166.0					X																	154490470		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490470A>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.260T>G	X.37:g.154490470A>C	ENSP00000358466:p.Leu87Arg						p.L87R	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			2	539	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		87					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.260T>G	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918253	0.73098	.	.	ENSG00000155961	ENST00000369454	D	0.81996	-1.56	4.77	4.77	0.60923	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000002	D	0.94198	0.8138	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95451	0.8534	10	0.87932	D	0	.	11.6344	0.51196	1.0:0.0:0.0:0.0	.	87	Q96DA2	RB39B_HUMAN	R	87	ENSP00000358466:L87R	ENSP00000358466:L87R	L	-	2	0	RAB39B	154143664	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.243000	0.95416	1.824000	0.53156	0.417000	0.27973	CTC		PASS	0.438	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		90	50	90	50	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155004226	155004226	+	Silent	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:155004226C>T	ENST00000302805.2	+	2	1124	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	231	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.F231F(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTCCCTCTTCCTACCCTGCC	0.597																																						uc004fnq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(691-693)TTC>TTT		sprouty homolog 3							223.0	203.0	210.0					X																	155004226		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004226C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.693C>T	X.37:g.155004226C>T						SPRY3_uc010nvl.1_Silent_p.F132F	p.F231F	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	1147	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		231			SPR.|Cys-rich.		A8K0H8	Silent	SNP	ENST00000302805.2	37	c.693C>T	CCDS14769.4																																																																																				PASS	0.597	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		31	97	31	97	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155233218	155233218	+	Missense_Mutation	SNP	T	T	C			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrX:155233218T>C	ENST00000244174.5	+	3	426	c.247T>C	c.(247-249)Ttc>Ctc	p.F83L	IL9R_ENST00000540897.1_Missense_Mutation_p.F120L|IL9R_ENST00000369423.2_Missense_Mutation_p.F130L|IL9R_ENST00000424344.3_Missense_Mutation_p.F62L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	83					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.F83L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGCTCCTCTTCACCAGGTG	0.597																																						uc004fnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TTC>CTC		interleukin 9 receptor precursor							65.0	69.0	68.0					X																	155233218		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233218T>C	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.247T>C	X.37:g.155233218T>C	ENSP00000244174:p.Phe83Leu					IL9R_uc010nvn.2_Missense_Mutation_p.F62L|IL9R_uc004fnu.1_Missense_Mutation_p.F130L	p.F83L	NM_002186	NP_002177	Q01113	IL9R_HUMAN			3	426	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		83			Extracellular (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.247T>C	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	17.75	3.465557	0.63513	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	1.29	1.29	0.21616	.	0.412539	0.21772	N	0.069342	T	0.48519	0.1504	.	.	.	0.09310	N	1	B;B;D	0.56035	0.412;0.412;0.974	B;B;D	0.67725	0.192;0.148;0.953	T	0.21827	-1.0234	9	0.31617	T	0.26	-19.7928	4.3588	0.11192	0.0:0.0:0.0:1.0	.	62;83;130	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	L	83;62;62;130;120	ENSP00000244174:F83L;ENSP00000388918:F62L;ENSP00000358431:F130L;ENSP00000438112:F120L	ENSP00000244174:F83L	F	+	1	0	IL9R	154886412	1.000000	0.71417	0.975000	0.42487	0.582000	0.36321	0.921000	0.28718	0.766000	0.33244	0.238000	0.17879	TTC		PASS	0.597	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		9	19	9	19	---	---	---	---
TBL1Y	90665	broad.mit.edu	37	Y	6893165	6893165	+	Missense_Mutation	SNP	C	C	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrY:6893165C>T	ENST00000383032.1	+	6	687	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	TBL1Y_ENST00000355162.2_Missense_Mutation_p.R14W|TBL1Y_ENST00000346432.3_Missense_Mutation_p.R14W	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	14	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R14W(1)		kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTGGTTTATCGGTATCTCCA	0.448																																						uc004frb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)CGG>TGG		transducin beta-like 1Y																																				SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6893165C>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.40C>T	Y.37:g.6893165C>T	ENSP00000372499:p.Arg14Trp					TBL1Y_uc004frc.2_Missense_Mutation_p.R14W|TBL1Y_uc004frd.2_Missense_Mutation_p.R14W|TBL1Y_uc011nap.1_Intron	p.R14W	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			6	687	+			14			LisH.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.40C>T	CCDS14779.1																																																																																				PASS	0.448	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		23	14	23	14	---	---	---	---
KDM5D	8284	broad.mit.edu	37	Y	21868707	21868707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chrY:21868707C>A	ENST00000317961.4	-	25	4313	c.4042G>T	c.(4042-4044)Gag>Tag	p.E1348*	KDM5D_ENST00000382806.2_Nonsense_Mutation_p.E1291*|KDM5D_ENST00000541639.1_Nonsense_Mutation_p.E1379*	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1348					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E1348*(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCCATGTTCTCAGGACTGGTC	0.468																																						uc004fug.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(4042-4044)GAG>TAG		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						86.0	86.0	86.0					Y																	21868707		608	1959	2567	SO:0001587	stop_gained	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21868707C>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4042G>T	Y.37:g.21868707C>A	ENSP00000322408:p.Glu1348*					KDM5D_uc011naz.1_Nonsense_Mutation_p.E1379*|KDM5D_uc010nwy.2_Nonsense_Mutation_p.E1291*|KDM5D_uc004fuf.2_Nonsense_Mutation_p.E523*	p.E1348*	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			25	4330	-			1348					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Nonsense_Mutation	SNP	ENST00000317961.4	37	c.4042G>T	CCDS14794.1																																																																																				PASS	0.468	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		21	6	21	6	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249					uc010ocf.1																			0					0								Homo sapiens mRNA for FLJ00313 protein.																																						84809							g.chr1:16945182_16945184delAAT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945185_16945187delAAT						CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA								4		-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37	c.973_975delATT																																																																																						0.325	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	3	3	3	---	---	---	---
CTPS1	1503	broad.mit.edu	37	1	41466737	41466737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:41466737delC	ENST00000372621.4	+	10	1550	c.1042delC	c.(1042-1044)caafs	p.Q348fs	CTPS1_ENST00000372616.1_Frame_Shift_Del_p.Q348fs|CTPS1_ENST00000541520.1_Frame_Shift_Del_p.Q117fs	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CATCACCTCGCAAGAAGAGCC	0.512																																						uc001cgk.3																			0					0						c.(1042-1044)CAAfs		CTP synthase	L-Glutamine(DB00130)						69.0	65.0	66.0					1																	41466737		2203	4300	6503	SO:0001589	frameshift_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41466737delC	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1042delC	1.37:g.41466737delC	ENSP00000361704:p.Gln348fs					CTPS_uc010ojo.1_Frame_Shift_Del_p.Q117fs|CTPS_uc001cgl.3_Frame_Shift_Del_p.Q348fs|CTPS_uc010ojq.1_Frame_Shift_Del_p.Q192fs|CTPS_uc009vwe.2_Frame_Shift_Del_p.Q68fs	p.Q348fs	NM_001905	NP_001896	P17812	PYRG1_HUMAN			10	1550	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	348			Glutamine amidotransferase type-1.			Frame_Shift_Del	DEL	ENST00000372621.4	37	c.1042delC	CCDS459.1																																																																																					0.512	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		17	12	17	12	---	---	---	---
CCDC18-AS1	100131564	broad.mit.edu	37	1	93791381	93791381	+	RNA	DEL	C	C	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:93791381delC	ENST00000451302.2	-	0	637				RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA																							ctagccTTTTCTAAGTGAAAG	0.428																																						uc001dps.2																			0													Homo sapiens cDNA FLJ42965 fis, clone BRSTN2014751.																																						0							g.chr1:93791381delC																													1.37:g.93791381delC						uc001dpt.1_RNA								5		-									RNA	DEL	ENST00000451302.2	37	c.430delG																																																																																						0.428	RP4-717I23.3-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000029559.2			3	3	3	3	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222801364	222801364	+	Frame_Shift_Del	DEL	A	A	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr1:222801364delA	ENST00000344922.5	+	4	827	c.802delA	c.(802-804)aaafs	p.K269fs	MIA3_ENST00000344507.1_Frame_Shift_Del_p.K269fs|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Frame_Shift_Del_p.K269fs	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	269					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAAACTTTTGAAAAAAGAAAT	0.358																																						uc001hnl.2																			0				ovary(4)|central_nervous_system(1)	5						c.(802-804)AAAfs		melanoma inhibitory activity family, member 3							61.0	59.0	60.0					1																	222801364		1841	4081	5922	SO:0001589	frameshift_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801364delA		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.802delA	1.37:g.222801364delA	ENSP00000340900:p.Lys269fs					MIA3_uc009xea.1_Frame_Shift_Del_p.K104fs	p.K268fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	811	+			268			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Del	DEL	ENST00000344922.5	37	c.802delA	CCDS41470.1																																																																																					0.358	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		34	15	34	15	---	---	---	---
DNAJC27-AS1	729723	broad.mit.edu	37	2	25261272	25261272	+	RNA	DEL	T	T	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr2:25261272delT	ENST00000434897.1	+	0	3369				DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000428614.1_RNA	NR_034113.1				DNAJC27 antisense RNA 1																		tgtatttttatttttttgaga	0.433																																						uc002rfv.2																			0													Homo sapiens cDNA FLJ45127 fis, clone BRAWH3036951.																																						0							g.chr2:25261272delT			2p23.3	2012-10-12	2012-08-15		ENSG00000224165	ENSG00000224165		"""Long non-coding RNAs"""	42943	non-coding RNA	RNA, long non-coding			"""DNAJC27 antisense RNA 1 (non-protein coding)"""				Standard	NR_034113		Approved		uc002rfv.4		OTTHUMG00000151981		2.37:g.25261272delT														3		+									RNA	DEL	ENST00000434897.1	37	c.3368delT																																																																																						0.433	DNAJC27-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000324695.1	NR_034113		4	2	4	2	---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128761166	128761166	+	3'UTR	DEL	G	G	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr4:128761166delG	ENST00000296464.4	+	0	10068				RP11-50D9.3_ENST00000565254.1_RNA	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						gaggtcaggagtttgagacca	0.458																																						uc003ifn.2																			0													Homo sapiens cDNA FLJ33585 fis, clone BRAMY2012163.																																				SO:0001624	3_prime_UTR_variant	0							g.chr4:128761166delG	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.*7137G>-	4.37:g.128761166delG														1		+								A2ICT2|Q4W5M5|Q8IWA2	RNA	DEL	ENST00000296464.4	37	c.2245delG	CCDS3734.1																																																																																					0.458	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		4	2	4	2	---	---	---	---
MIR4477B	100616194	broad.mit.edu	37	9	68413196	68413197	+	RNA	INS	-	-	C	rs377421859		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr9:68413196_68413197insC	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		tagttagaagactaggctgctg	0.634																																						uc004aew.1																			0													Homo sapiens cDNA, FLJ98602.																																						0							g.chr9:68413196_68413197insC			9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413197_68413197dupC						uc004aex.2_5'Flank								2		+									RNA	INS	ENST00000581659.1	37	c.1358_1359insC																																																																																						0.634	MIR4477B-201	KNOWN	basic	miRNA	miRNA		NR_039689		4	3	4	3	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742562	56742563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr12:56742562_56742563insT	ENST00000314128.4	-	18	1625_1626	c.1602_1603insA	c.(1600-1605)ccattafs	p.L535fs	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.L531fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	535					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGACAATAATGGATCCTCAG	0.53																																						uc001slc.2																			0				ovary(1)|lung(1)|kidney(1)	3						c.(1600-1605)CCATTAfs		signal transducer and activator of transcription																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742562_56742563insT	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1603dupA	12.37:g.56742563_56742563dupT	ENSP00000315768:p.Leu535fs					STAT2_uc001slb.2_Frame_Shift_Ins_p.P76fs|STAT2_uc001sld.2_Frame_Shift_Ins_p.P530fs	p.P534fs	NM_005419	NP_005410	P52630	STAT2_HUMAN			18	1680_1681	-			534_535					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1602_1603insA	CCDS8917.1																																																																																					0.530	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		24	16	24	16	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578200	7578221	+	Frame_Shift_Del	DEL	CCACACTATGTCGAAAAGTGTT	CCACACTATGTCGAAAAGTGTT	-	rs587778720|rs35163653|rs1800372|rs397516436|rs587781386|rs199693249|rs587782177	byFrequency	TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr17:7578200_7578221delCCACACTATGTCGAAAAGTGTT	ENST00000269305.4	-	6	817_838	c.628_649delAACACTTTTCGACATAGTGTGG	c.(628-651)aacacttttcgacatagtgtggtgfs	p.NTFRHSVV210fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.NTFRHSVV210fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.NTFRHSVV210fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.NTFRHSVV210fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.NTFRHSVV210fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.NTFRHSVV210fs	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	210	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in a familial cancer not matching LFS; germline 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.R213*(250)|p.V216M(61)|p.H214R(61)|p.R213L(38)|p.R213Q(29)|p.R120*(21)|p.R81*(21)|p.S215R(19)|p.S215I(18)|p.F212fs*3(12)|p.?(11)|p.R213fs*34(10)|p.S215N(9)|p.T211T(9)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.V216E(7)|p.T211I(7)|p.V216G(6)|p.S215G(6)|p.H214fs*33(6)|p.S215C(5)|p.H214Y(5)|p.R213P(5)|p.R213G(5)|p.S215fs*32(4)|p.H82R(4)|p.R120L(4)|p.T211N(4)|p.H214Q(4)|p.H121R(4)|p.N210fs*37(4)|p.R81L(4)|p.R213R(4)|p.R213fs*35(3)|p.V216A(3)|p.V84M(3)|p.V123M(3)|p.H214D(3)|p.S215T(3)|p.T211fs*4(3)|p.F212L(3)|p.T211fs*36(2)|p.S215S(2)|p.N210S(2)|p.H214fs*5(2)|p.R209fs*35(2)|p.V216fs*6(2)|p.R120Q(2)|p.T211A(2)|p.T211fs*5(2)|p.V216fs*31(2)|p.V217L(2)|p.R81Q(2)|p.F212S(2)|p.F212I(2)|p.V217fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.S83I(1)|p.S83N(1)|p.V217fs*5(1)|p.S83R(1)|p.R81fs*>11(1)|p.N210D(1)|p.N210N(1)|p.S215fs*31(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.D207_V216del10(1)|p.T211fs*28(1)|p.S122N(1)|p.S122I(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.S122R(1)|p.?fs(1)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.H121fs*33(1)|p.V216fs*5(1)|p.F80fs*3(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.V84G(1)|p.V84E(1)|p.V217del(1)|p.R120fs*35(1)|p.V123G(1)|p.V123E(1)|p.R213fs*2(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.T211P(1)|p.T211S(1)|p.H214H(1)|p.V216fs*28(1)|p.F212fs*4(1)|p.F119fs*3(1)|p.R209_R213delRNTFR(1)|p.S215_V216insX(1)|p.R213_S215>X(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_F212insX(1)|p.H82fs*>9(1)|p.T211_S215delTFRHS(1)|p.E204_N210delEYLDDRN(1)|p.N210fs*7(1)|p.R213>L(1)|p.F212Y(1)|p.R81G(1)|p.S215_V218>R(1)|p.R213W(1)|p.S215_V218>M(1)|p.R209fs*6(1)|p.R209fs*5(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)	TAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCC	0.545		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		796	Substitution - Missense(364)|Substitution - Nonsense(292)|Deletion - Frameshift(63)|Deletion - In frame(17)|Substitution - coding silent(17)|Insertion - Frameshift(16)|Unknown(11)|Whole gene deletion(8)|Insertion - In frame(3)|Complex - deletion inframe(3)|Complex - frameshift(1)|Complex - compound substitution(1)	p.R213*(186)|p.V216M(49)|p.H214R(45)|p.R213L(25)|p.R213Q(22)|p.S215R(16)|p.S215I(15)|p.R213fs*34(10)|p.T211T(9)|p.V216del(8)|p.V216L(7)|p.T211I(7)|p.F212fs*3(7)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.R213P(5)|p.S215fs*32(4)|p.V216E(4)|p.T211N(4)|p.H214Y(4)|p.H214Q(4)|p.N210fs*37(4)|p.V216A(3)|p.V216G(3)|p.H214D(3)|p.S215T(3)|p.T211fs*4(3)|p.F212L(3)|p.T211fs*36(2)|p.S215S(2)|p.N210S(2)|p.H214fs*5(2)|p.R209fs*35(2)|p.V216fs*6(2)|p.R120*(2)|p.T211A(2)|p.T211fs*5(2)|p.V216fs*31(2)|p.V217L(2)|p.R81*(2)|p.F212S(2)|p.H214fs*33(2)|p.F212I(2)|p.R213G(2)|p.V217fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.D207_R213delDDRNTFR(1)|p.V217fs*5(1)|p.N210D(1)|p.N210N(1)|p.S215fs*31(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.D207_V216del10(1)|p.T211fs*28(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.?fs(1)|p.D208_V216delDRNTFRHSV(1)|p.R209fs*36(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.V217del(1)|p.R213fs*2(1)|p.T211P(1)|p.T211S(1)|p.K164_P219del(1)|p.H214H(1)|p.F212fs*4(1)|p.R209_R213delRNTFR(1)|p.S215_V216insX(1)|p.R213_S215>X(1)|p.V216fs*28(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_F212insX(1)|p.T211_S215delTFRHS(1)|p.E204_N210delEYLDDRN(1)|p.?(1)|p.N210fs*7(1)|p.R213>L(1)|p.F212Y(1)|p.S215_V218>R(1)|p.R213W(1)|p.R213R(1)|p.R209fs*6(1)|p.R209fs*5(1)	large_intestine(136)|lung(104)|breast(93)|ovary(59)|upper_aerodigestive_tract(58)|oesophagus(57)|haematopoietic_and_lymphoid_tissue(42)|central_nervous_system(36)|stomach(33)|liver(33)|urinary_tract(30)|prostate(23)|skin(20)|biliary_tract(15)|soft_tissue(13)|endometrium(11)|pancreas(11)|bone(7)|kidney(6)|thyroid(3)|eye(2)|vulva(1)|autonomic_ganglia(1)|cervix(1)|thymus(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	CD011205|CD921041|CD941799|CM004573|CM004906|CM022474|CM951226|CX952222|CX984230	TP53	D|M|X	rs1800372	c.(628-651)AACACTTTTCGACATAGTGTGGTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	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.chr17:7578200_7578221delCCACACTATGTCGAAAAGTGTT	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.628_649delAACACTTTTCGACATAGTGTGG	17.37:g.7578200_7578221delCCACACTATGTCGAAAAGTGTT	ENSP00000269305:p.Asn210fs	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_Frame_Shift_Del_p.N210fs|TP53_uc002gih.2_Frame_Shift_Del_p.N210fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N78fs|TP53_uc010cng.1_Frame_Shift_Del_p.N78fs|TP53_uc002gii.1_Frame_Shift_Del_p.N78fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N210fs|TP53_uc010cni.1_Frame_Shift_Del_p.N210fs|TP53_uc002gij.2_Frame_Shift_Del_p.N210fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.N117fs|TP53_uc002gio.2_Frame_Shift_Del_p.N78fs|TP53_uc010vug.1_Frame_Shift_Del_p.N171fs	p.N210fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	822_843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	210_217		V -> I (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.628_649delAACACTTTTCGACATAGTGTGG	CCDS11118.1																																																																																					0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	6	12	6	---	---	---	---
AP1M2	10053	broad.mit.edu	37	19	10685628	10685628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:10685628delG	ENST00000250244.6	-	10	1207	c.1125delC	c.(1123-1125)cccfs	p.P375fs	AP1M2_ENST00000590923.1_Frame_Shift_Del_p.P377fs	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	375	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGACCCCGATGGGGGGCCGGC	0.612																																						uc002mpc.2																			0				ovary(2)	2						c.(1123-1125)CCCfs		adaptor-related protein complex 1, mu 2 subunit							25.0	27.0	26.0					19																	10685628		1870	4092	5962	SO:0001589	frameshift_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10685628delG	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.1125delC	19.37:g.10685628delG	ENSP00000250244:p.Pro375fs					AP1M2_uc002mpd.2_Frame_Shift_Del_p.P377fs	p.P375fs	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		10	1209	-			375			MHD.		B2RDV5|Q9BSI8	Frame_Shift_Del	DEL	ENST00000250244.6	37	c.1125delC	CCDS45964.1																																																																																					0.612	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			5	8	5	8	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49114047	49114047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr19:49114047delC	ENST00000263266.3	-	2	712	c.523delG	c.(523-525)gatfs	p.D175fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	175										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTGGCAGCATCCACCAAGTCC	0.652																																						uc002pjn.2																			0				ovary(1)	1						c.(523-525)GATfs		hypothetical protein LOC54854							16.0	20.0	19.0					19																	49114047		2120	4237	6357	SO:0001589	frameshift_variant	54854							g.chr19:49114047delC	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.523delG	19.37:g.49114047delC	ENSP00000263266:p.Asp175fs						p.D175fs	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	2	588	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	175					Q9NXK1	Frame_Shift_Del	DEL	ENST00000263266.3	37	c.523delG	CCDS42587.1																																																																																					0.652	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		2	4	2	4	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121560	38121564	+	Frame_Shift_Del	DEL	CTATG	CTATG	-	rs550995908|rs201580923		TCGA-18-3409-01A-01D-0983-08	TCGA-18-3409-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aa733cb0-37a9-4fef-8d40-d57596ce9e51	c56da82c-b77a-44ef-a4c0-85de66f118cc	g.chr22:38121560_38121564delCTATG	ENST00000406386.3	+	7	3252_3256	c.2997_3001delCTATG	c.(2995-3003)gcctatgggfs	p.YG1000fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1000					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCGCTGCCTATGGGGCTCCCCT	0.644																																						uc003atr.2																			0				central_nervous_system(1)	1						c.(2995-3003)GCCTATGGGfs		TRIO and F-actin binding protein isoform 6																																				SO:0001589	frameshift_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121560_38121564delCTATG	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2997_3001delCTATG	22.37:g.38121560_38121564delCTATG	ENSP00000384312:p.Tyr1000fs					TRIOBP_uc003atu.2_Frame_Shift_Del_p.A827fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A999fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A827fs	p.A999fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3268_3272	+	Melanoma(58;0.0574)		999_1001					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	ENST00000406386.3	37	c.2997_3001delCTATG	CCDS43015.1																																																																																					0.644	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			76	44	76	44	---	---	---	---
